1   550 82 AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY IN TWO SIBLINGS: SAME MUTATIONS BUT VERY DIFFERENT PHENOTYPES. AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY (APECED), CAUSED BY MUTATIONS IN THE AIRE GENE, IS MAINLY CHARACTERIZED BY THE TRIAD OF HYPOPARATHYROIDISM, PRIMARY ADRENOCORTICAL INSUFFICIENCY AND CHRONIC MUCOCUTANEOUS CANDIDIASIS, BUT CAN INCLUDE MANY OTHER MANIFESTATIONS, WITH NO CURRENTLY CLEAR GENOTYPE-PHENOTYPE CORRELATION. WE PRESENT THE CLINICAL FEATURES OF TWO SIBLINGS, A MALE AND A FEMALE, WITH THE SAME MUTATIONS IN THE AIRE GENE ASSOCIATED WITH TWO VERY DIFFERENT PHENOTYPES. INTERESTINGLY, THE BROTHER RECENTLY EXPERIENCED COVID-19 INFECTION WITH PNEUMONIA, COMPLICATED BY HYPERTENSION, HYPOKALEMIA AND HYPERCALCEMIA. ALTHOUGH APECED IS A MONOGENIC DISEASE, ITS EXPRESSIVENESS CAN BE EXTREMELY DIFFERENT. IN ADDITION TO THE GENETIC BASIS, EPIGENETIC AND ENVIRONMENTAL FACTORS MIGHT INFLUENCE THE PHENOTYPIC EXPRESSION, ALTHOUGH THEIR EXACT ROLE REMAINS TO BE ELUCIDATED.	2021	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                            
2  4182 26 MESOAMERICAN NEPHROPATHY (MEN): WHAT WE KNOW SO FAR. IN 2002, A REPORT FROM EL SALVADOR DESCRIBED A HIGH INCIDENCE OF CHRONIC KIDNEY DISEASE (CKD) OF UNKNOWN CAUSE, MOSTLY IN YOUNG MALES FROM SPECIFIC COASTAL AREAS. SIMILAR SITUATIONS WERE OBSERVED ALONG THE PACIFIC OCEAN COASTLINE OF OTHER CENTRAL AMERICAN COUNTRIES AND SOUTHERN MEXICO (MESOAMERICA). THIS NEW FORM OF CKD HAS BEEN DENOMINATED MESOAMERICAN ENDEMIC NEPHROPATHY (MEN). THE TYPICAL PRESENTATION OF MEN IS A YOUNG MALE FROM AN ENDEMIC AREA WITH A FAMILY HISTORY OF CKD, LOW EGFR, HIGH SERUM CREATININE, LOW LEVEL OF ALBUMINURIA, HYPOKALEMIA, HYPERURICEMIA, AND URINE URATE CRYSTALS. KIDNEY BIOPSY DEMONSTRATING TUBULOINTERSTITIAL NEPHRITIS REMAINS THE GOLD STANDARD FOR DIAGNOSIS BUT IS AVAILABLE ONLY FOR A MINORITY. COMMONLY PROPOSED CAUSES INCLUDE THERMAL STRESS/DEHYDRATION AND/OR EXPOSURE TO ENVIRONMENTAL POLLUTANTS. HOWEVER, LIKELY, A THIRD FACTOR, WHICH COULD BE GENETIC OR EPIGENETIC, COULD CONTRIBUTE TO THE CAUSE AND DEVELOPMENT OF THE DISEASE, ALONG WITH SOCIAL DETERMINANTS. CURRENTLY, PREVENTIVE MEASURES FOCUS ON MINIMIZING WORKERS EXPOSURE TO THERMAL STRESS/DEHYDRATION. THERE ARE MANY RESEARCH OPPORTUNITIES AND PRIORITIES SHOULD INCLUDE CLINICAL TRIALS TO EVALUATE THE EFFICACY AND SAFETY OF THE CURRENT TREATMENT PROTOCOLS, ALONG WITH ETIOLOGICAL AND GENETIC STUDIES, AND THE DEVELOPMENT OF KIDNEY DISEASE DATA SYSTEMS. ALTHOUGH THERE IS SCANT AND CONTROVERSIAL LITERATURE WITH REGARD S TO THE ETIOLOGY, DIAGNOSIS AND MANAGEMENT OF THE DISEASE, OUR AIM IS TO PROVIDE THE READER A VISION OF THE DISEASE BASED ON OUR EXPERIENCE.	2020	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                    
3  5470 20 RESOLVING THE ENIGMA OF THE MESOAMERICAN NEPHROPATHY: A RESEARCH WORKSHOP SUMMARY. THE FIRST INTERNATIONAL RESEARCH WORKSHOP ON MESOAMERICAN NEPHROPATHY (MEN) MET IN COSTA RICA IN NOVEMBER 2012 TO DISCUSS HOW TO ESTABLISH THE EXTENT AND DEGREE OF MEN, EXAMINE RELEVANT CAUSAL HYPOTHESES, AND FOCUS EFFORTS TO CONTROL OR ELIMINATE THE DISEASE BURDEN. MEN DESCRIBES A DEVASTATING EPIDEMIC OF CHRONIC KIDNEY DISEASE OF UNKNOWN ORIGIN PREDOMINANTLY OBSERVED AMONG YOUNG MALE SUGARCANE CUTTERS. THE CAUSE OF MEN REMAINS UNCERTAIN; HOWEVER, THE STRONGEST HYPOTHESIS PURSUED TO DATE IS REPEATED EPISODES OF OCCUPATIONAL HEAT STRESS AND WATER AND SOLUTE LOSS, PROBABLY IN COMBINATION WITH OTHER POTENTIAL RISK FACTOR(S), SUCH AS NONSTEROIDAL ANTI-INFLAMMATORY DRUG AND OTHER NEPHROTOXIC MEDICATION USE, INORGANIC ARSENIC, LEPTOSPIROSIS, OR PESTICIDES. AT THE RESEARCH WORKSHOP, CLINICAL AND EPIDEMIOLOGIC CASE DEFINITIONS WERE PROPOSED IN ORDER TO FACILITATE BOTH PUBLIC HEALTH AND RESEARCH EFFORTS. RECOMMENDATIONS EMANATING FROM THE WORKSHOP INCLUDED MEASURING WORKLOAD, HEAT, AND WATER AND SOLUTE LOSS AMONG WORKERS; QUANTIFYING NEPHROTOXIC AGENTS IN DRINKING WATER AND FOOD; USING BIOMARKERS OF EARLY KIDNEY INJURY TO EXPLORE POTENTIAL CAUSES OF MEN; AND CHARACTERIZING SOCIAL AND WORKING CONDITIONS TOGETHER WITH METHODS FOR VALID DATA COLLECTION OF EXPOSURES AND PERSONAL RISK FACTORS. ADVANTAGES AND DISADVANTAGES OF DIFFERENT POPULATION STUDY DESIGNS WERE DETAILED. TO ELUCIDATE THE ETIOLOGY OF MEN, MULTICOUNTRY STUDIES WITH PROSPECTIVE COHORT DESIGN, PREFERABLY INTEGRATING AN ECOSYSTEM HEALTH APPROACH, WERE CONSIDERED THE MOST PROMISING. IN ADDITION, GENETIC, EXPERIMENTAL, AND MECHANISTIC METHODS AND DESIGNS WERE ADDRESSED, SPECIFICALLY THE NEED FOR KIDNEY BIOPSY ANALYSIS, STUDIES IN ANIMAL MODELS, ADVANCES IN BIOMARKERS, GENETIC AND EPIGENETIC STUDIES, A COMMON REGISTRY AND REPOSITORY OF BIOLOGICAL AND DEMOGRAPHIC DATA AND/OR SPECIMENS, AND OTHER AREAS OF POTENTIAL CHRONIC KIDNEY DISEASE EXPERIMENTAL RESEARCH. FINALLY, IN ORDER TO IMPROVE INTERNATIONAL COLLABORATION ON MEN, WORKSHOP PARTICIPANTS AGREED TO ESTABLISH A RESEARCH CONSORTIUM TO LINK THESE MESOAMERICAN EFFORTS TO OTHER EFFORTS WORLDWIDE.	2014	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                        
4  1477 29 DIVERSE PHENOTYPIC EXPRESSION OF NPHP4 MUTATIONS IN FOUR SIBLINGS. NEPHRONOPHTHISIS (NPHP) IS AN AUTOSOMAL RECESSIVE DISEASE CHARACTERIZED BY RENAL TUBULAR BASEMENT MEMBRANE DISRUPTION, INTERSTITIAL FIBROSIS AND TUBULAR CYSTS THAT PROGRESSES TO END-STAGE KIDNEY DISEASE (ESKD). THERE ARE ALSO CHARACTERISTIC EXTRARENAL MANIFESTATIONS. MUTATIONS OF MORE THAN THIRTEEN GENES THAT CAN CAUSE NPHP HAVE BEEN IDENTIFIED. WE HEREIN REPORT FOUR SIBLINGS FROM A CONSANGUINEOUS FAMILY, WHO CARRIED THE SAME NPHP4 MUTATIONS BUT PRESENTED WITH DIFFERENT DISEASE PHENOTYPES RANGING FROM ENURESIS NOCTURNA TO ESKD. DILUTED URINE AND ECHOGENIC KIDNEYS IN ULTRASOUND EXAMINATION WERE CONSISTENT, WHICH IS TYPICAL FOR 100% OF THE NPHP CASES THAT HAVE BEEN DESCRIBED. CHRONIC KIDNEY DISEASE DEVELOPED IN THE OLDER TWO BROTHERS. THE OBSERVED PHENOTYPIC DIFFERENCES ARE LIKELY TO BE RELATED TO ENVIRONMENTAL AND EPIGENETIC FACTORS, OLIGOGENIC INHERITANCE AND MODIFIER GENES AFFECTING THE AGE OF PRESENTATION OF SIGNS AND SYMPTOMS. NPHP SHOULD BE CONSIDERED AS AN IMPORTANT CAUSE OF CKD IN CHILDREN, WHICH INSIDIOUSLY PROGRESSES TO ESKD, WITH NO SPECIFIC THERAPY AVAILABLE.	2014	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                              
5  4101 18 MDCT AND MR UROGRAM SPECTRUM OF CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT DIAGNOSED IN ADULTHOOD. OBJECTIVE: CONGENITAL ANOMALIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) ENCOMPASS A SPECTRUM OF ANOMALIES THAT RESULT FROM GENETIC, EPIGENETIC, ENVIRONMENTAL, AND MOLECULAR SIGNAL ABERRATIONS AT KEY STAGES OF URINARY TRACT DEVELOPMENT. CAKUT CAN BE SEEN INCIDENTALLY ON CROSS-SECTIONAL IMAGING OF THE ABDOMEN OR CAN BE A CAUSE FOR ADULT-ONSET CHRONIC KIDNEY DISEASE, POSING NEW CHALLENGES FOR NEPHROLOGISTS, UROLOGISTS, AND RADIOLOGISTS. CONCLUSION: AWARENESS OF CAKUT AND FAMILIARITY WITH THEIR IMAGING FINDINGS PERMIT OPTIMAL PATIENT MANAGEMENT AND THOROUGH WORKUP TO PREVENT HYPERTENSION AND PROGRESSION FROM CAKUT TO RENAL FAILURE. THE PURPOSE OF THIS ARTICLE IS TO REVIEW THE CROSS-SECTIONAL IMAGING FINDINGS OF CAKUT THAT MAY PRESENT IN ADULTHOOD.	2015	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                               
6   537 16 ASYMPTOMATIC HYPERURICEMIA: IS IT REALLY ASYMPTOMATIC? PURPOSE OF REVIEW: HYPERURICEMIA IS HIGHLY PREVALENT, AFFECTING APPROXIMATELY 38 MILLION INDIVIDUALS IN THE UNITED STATES. HOWEVER, THE SIGNIFICANCE OF ASYMPTOMATIC HYPERURICEMIA - HYPERURICEMIA IN THE ABSENCE OF GOUT - CONTINUES TO BE DEBATED. RECENT FINDINGS: ASYMPTOMATIC HYPERURICEMIA RESULTS IN MONOSODIUM URATE CRYSTAL DEPOSITION IN TISSUES, WHICH MAY PROMOTE CHRONIC INFLAMMATION. INTRACELLULARLY, HYPERURICEMIA INHIBITS THE MASTER REGULATOR ADENOSINE MONOPHOSPHATE (AMP)-ASSOCIATED PROTEIN KINASE AND MAY CONDITION INNATE IMMUNE RESPONSES THROUGH DURABLE EPIGENETIC MODIFICATIONS. AT THE POPULATION LEVEL, ASYMPTOMATIC HYPERURICEMIA IS ASSOCIATED WITH MULTIPLE COMORBIDITIES, INCLUDING HYPERTENSION, CHRONIC KIDNEY DISEASE, CORONARY ARTERY DISEASE, AND DIABETES; LIMITATIONS OF THESE STUDIES INCLUDE THAT MOST ARE RETROSPECTIVE AND SOME DO NOT RIGOROUSLY DISTINGUISH BETWEEN ASYMPTOMATIC HYPERURICEMIA AND GOUT. TREATMENT STUDIES SUGGEST THAT URATE LOWERING MAY REDUCE THE RISK OF INCIDENCE OR PROGRESSION OF SOME OF THESE COMORBIDITIES; UNFORTUNATELY, MANY OF THESE TREATMENT STUDIES ARE SMALL OR FLAWED, AND NOT ALL STUDY RESULTS ARE CONSISTENT. SUMMARY: ACCUMULATING EVIDENCE SUGGESTS THAT ASYMPTOMATIC HYPERURICEMIA CONTRIBUTES TO THE COMORBIDITIES WITH WHICH IT ASSOCIATES AND THAT PROPER ASYMPTOMATIC HYPERURICEMIA TREATMENT MAY REDUCE FUTURE RISK. ADDITIONAL PROSPECTIVE TRIALS ARE NEEDED TO DEFINITELY ESTABLISH CAUSALITY AND SUPPORT DECISION-MAKING AS TO WHETHER, AND WHICH PATIENTS WITH ASYMPTOMATIC HYPERURICEMIA WOULD WARRANT URATE-LOWERING TREATMENT.	2020	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                    
7    81 16 A NEW TYPE OF DENTAL ANOMALY: MOLAR-INCISOR MALFORMATION (MIM). A MOLAR-INCISOR MALFORMATION (MIM) IS A NEWLY DISCOVERED TYPE OF DENTAL ANOMALY OF THE PERMANENT FIRST MOLARS, DECIDUOUS SECOND MOLARS, AND PERMANENT MAXILLARY CENTRAL INCISORS. MIM ANOMALIES OF THE PERMANENT FIRST MOLARS AND DECIDUOUS SECOND MOLARS MAY INCLUDE NORMAL CROWNS WITH A CONSTRICTED CERVICAL REGION AND THIN, NARROW, AND SHORT ROOTS, WHEREAS THE AFFECTED MAXILLARY CENTRAL INCISORS MAY EXHIBIT A HYPOPLASTIC ENAMEL NOTCH NEAR THE CERVICAL THIRD OF THE CLINICAL CROWN. ALTHOUGH THE ETIOLOGY OF MIM REMAINS TO BE DETERMINED, IT IS THOUGHT TO BE ATTRIBUTABLE TO AN EPIGENETIC FACTOR LINKED TO BRAIN- AND CENTRAL NERVOUS SYSTEM-RELATED SYSTEMIC DISEASES AT AROUND AGE 1 TO 2 YEARS. MIM TEETH ARE ASSOCIATED WITH CLINICAL PROBLEMS SUCH AS IMPACTION, EARLY EXFOLIATION, SPACE LOSS, SPONTANEOUS PAIN, PERIAPICAL ABSCESS, AND POOR INCISOR ESTHETICS. CHILDREN WITH MIM TEETH SHOULD BE OBSERVED CLOSELY WITH RESPECT TO THEIR MEDICAL HISTORY, AND DENTISTS SHOULD FORMULATE A WIDER-RANGING TREATMENT PLAN.	2014	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                 
8   646 18 BIRTH MODE AND INFECTIOUS MORBIDITY RISKS IN QOM CHILDREN OF ARGENTINA. OBJECTIVES: CESAREAN DELIVERY MAY INCREASE CHILDHOOD INFECTIOUS MORBIDITY RISKS VIA ALTERED BIRTH EXPOSURES AND SUBSEQUENT IMMUNE, MICROBIAL, AND EPIGENETIC DEVELOPMENT. MANY LATIN AMERICAN INDIGENOUS POPULATIONS EXPERIENCE DUAL BURDENS OF INFECTIOUS AND CHRONIC DISEASES, AND ARE PARTICULARLY VULNERABLE TO RISING RATES OF CESAREAN DELIVERY AND ASSOCIATED ADVERSE OUTCOMES. THE QOM/TOBA ARE AN INDIGENOUS POPULATION IN ARGENTINA EXPERIENCING RAPID LIFESTYLE TRANSITIONS. WE HYPOTHESIZED THAT CESAREAN DELIVERY WOULD BE ASSOCIATED WITH INCREASED RISK OF INFECTIOUS SYMPTOMS IN QOM CHILDREN AFTER ADJUSTING FOR GESTATIONAL AND NUTRITIONAL FACTORS. METHODS: WE CONDUCTED A SECONDARY ANALYSIS OF BIRTH RECORDS AND MONTHLY ANTHROPOMETRIC AND ILLNESS DATA COLLECTED PREVIOUSLY FROM 90 QOM CHILDREN (AGED 1-55 MONTHS). WE TESTED FOR ADDITIVE EFFECTS OF BIRTH MODE ON RISK OF GASTROINTESTINAL (GI) AND RESPIRATORY ILLNESS (RI) IN MIXED-EFFECTS LOGISTIC REGRESSION MODELS ADJUSTING FOR CHILD WEIGHT-FOR-AGE (WAZ), WEANING, AND GESTATIONAL AND MATERNAL AGE. RESULTS: CESAREAN DELIVERIES ACCOUNTED FOR 46% OF BIRTHS AND WERE ASSOCIATED WITH MATERNAL AGE < 20 AND >/= 30 YEARS, GESTATIONAL AGE < 39 WEEKS, AND PRENATAL COMPLICATIONS. GI AND RI RISKS WERE REDUCED IN ASSOCIATION WITH CESAREAN DELIVERY, GREATER WAZ, WEANING, MATERNAL AGE >/= 30 YEARS, AND GESTATIONAL AGE < 39 WEEKS. CONCLUSIONS: THE RELATIONSHIP BETWEEN CESAREAN DELIVERY AND REDUCED INFECTIOUS RISKS MAY REFLECT STATISTICAL CONFOUNDING WITH RELATIVELY RAPID POSTNATAL GROWTH AND GREATER ADIPOSITY. POSTNATAL GROWTH TRAJECTORIES MAY BE IMPORTANT MEDIATORS OF LONG-TERM MORBIDITY RISKS ASSOCIATED WITH CESAREAN DELIVERY. THE FREQUENCY OF CESAREAN DELIVERIES AMONG THE QOM REMAINS CONCERNING GIVEN TRADITIONALLY HIGH RATES OF FERTILITY AND ADOLESCENT PREGNANCY.	2019	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                               
9  1055 17 CLINICAL INTEGRATION OF GENOME DIAGNOSTICS FOR CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT. REVOLUTIONS IN GENETICS, EPIGENETICS, AND BIOINFORMATICS ARE CURRENTLY CHANGING THE OUTLINE OF DIAGNOSTICS AND CLINICAL MEDICINE. FROM A NEPHROLOGIST'S PERSPECTIVE, INDIVIDUALS WITH CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT (CAKUT) ARE AN IMPORTANT PATIENT CATEGORY: NOT ONLY IS CAKUT THE PREDOMINANT CAUSE OF KIDNEY FAILURE IN CHILDREN AND YOUNG ADULTS, BUT THE STRONG PHENOTYPIC AND GENOTYPIC HETEROGENEITY OF KIDNEY AND URINARY TRACT MALFORMATIONS HAS HAMPERED STANDARDIZATION OF CLINICAL DECISION MAKING UNTIL NOW. HOWEVER, PATIENTS WITH CAKUT MAY BENEFIT FROM PRECISION MEDICINE, INCLUDING AN INTEGRATED DIAGNOSTICS TRAJECTORY, GENETIC COUNSELING, AND PERSONALIZED MANAGEMENT TO IMPROVE CLINICAL OUTCOMES OF DEVELOPMENTAL KIDNEY AND URINARY TRACT DEFECTS. IN THIS REVIEW, WE DISCUSS THE PRESENT UNDERSTANDING OF THE MOLECULAR ETIOLOGY OF CAKUT AND THE CURRENTLY AVAILABLE GENOME DIAGNOSTIC MODALITIES IN THE CLINICAL CARE OF PATIENTS WITH CAKUT. FINALLY, WE DISCUSS HOW CLINICAL INTEGRATION OF FINDINGS FROM LARGE-SCALE GENETIC, EPIGENETIC, AND GENE-ENVIRONMENT INTERACTION STUDIES MAY IMPROVE THE PROGNOSIS OF ALL INDIVIDUALS WITH CAKUT.	2020	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                       
10  6160 25 THE GENETICS AND PATHOGENESIS OF CAKUT. CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT (CAKUT) COMPRISE A LARGE VARIETY OF MALFORMATIONS THAT ARISE FROM DEFECTIVE KIDNEY OR URINARY TRACT DEVELOPMENT AND FREQUENTLY LEAD TO KIDNEY FAILURE. THE CLINICAL SPECTRUM RANGES FROM SEVERE MALFORMATIONS, SUCH AS RENAL AGENESIS, TO POTENTIALLY MILDER MANIFESTATIONS, SUCH AS VESICOURETERAL REFLUX. ALMOST 50% OF CASES OF CHRONIC KIDNEY DISEASE THAT MANIFEST WITHIN THE FIRST THREE DECADES OF LIFE ARE CAUSED BY CAKUT. EVIDENCE SUGGESTS THAT A LARGE NUMBER OF CAKUT ARE GENETIC IN ORIGIN. TO DATE, MUTATIONS IN ~54 GENES HAVE BEEN IDENTIFIED AS MONOGENIC CAUSES OF CAKUT, CONTRIBUTING TO 12-20% OF THE AETIOLOGY OF THE DISEASE. PATHOGENIC COPY NUMBER VARIANTS HAVE ALSO BEEN SHOWN TO CAUSE CAKUT AND CAN BE DETECTED IN 4-11% OF PATIENTS. FURTHERMORE, ENVIRONMENTAL AND EPIGENETIC FACTORS CAN INCREASE THE RISK OF CAKUT. THE DISCOVERY OF NOVEL CAKUT-CAUSING GENES IS CHALLENGING OWING TO VARIABLE EXPRESSIVITY, INCOMPLETE PENETRANCE AND VARIABLE GENOTYPE-PHENOTYPE CORRELATION. HOWEVER, SUCH A DISCOVERY COULD ULTIMATELY LEAD TO IMPROVEMENTS IN THE ACCURATE MOLECULAR GENETIC DIAGNOSIS, ASSESSMENT OF PROGNOSIS AND MULTIDISCIPLINARY CLINICAL MANAGEMENT OF PATIENTS WITH CAKUT, POTENTIALLY INCLUDING PERSONALIZED THERAPEUTIC APPROACHES.	2023	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                             
11  1183 20 CONVERGING RELATIONSHIPS OF OBESITY AND HYPERURICEMIA WITH SPECIAL REFERENCE TO METABOLIC DISORDERS AND PLAUSIBLE THERAPEUTIC IMPLICATIONS. BACKGROUND: OBESITY AND HYPERURICEMIA MUTUALLY INFLUENCE METABOLIC SYNDROME. THIS STUDY DISCUSSES THE METABOLIC RELATIONSHIPS BETWEEN OBESITY AND HYPERURICEMIA IN TERMS OF PATHOPHYSIOLOGY, COMPLICATIONS, AND TREATMENTS. METHODS: WE SEARCHED FOR PRECLINICAL OR CLINICAL STUDIES ON THE PATHOPHYSIOLOGY, COMPLICATIONS, AND THERAPY OF OBESITY AND HYPERURICEMIA ON THE PUBMED DATABASE. RESULTS: IN THIS SYSTEMIC REVIEW, WE SUMMARIZED OUR SEARCHING RESULTS ON TOPICS OF PATHOPHYSIOLOGY, COMPLICATIONS AND THERAPEUTIC STRATEGY. IN PATHOPHYSIOLOGY, WE FIRSTLY INTRODUCE GENETIC VARIATIONS FOR OBESITY, HYPERURICEMIA AND THEIR RELATIONSHIPS BY GENETIC STUDIES. SECONDLY, WE TALK ABOUT THE EPIGENETIC INFLUENCES ON OBESITY AND HYPERURICEMIA. THIRDLY, WE DESCRIBE THE CENTRAL METABOLIC REGULATION AND THE ROLE OF HYPERURICEMIA. THEN, WE REFER TO THE CHARACTER OF ADIPOSE TISSUE INFLAMMATION AND OXIDATIVE STRESS IN THE OBESITY AND HYPERURICEMIA. IN THE LAST PART OF THIS TOPIC, WE REVIEWED THE CRITICAL LINKS OF GUT MICROBIOTA IN THE OBESITY AND HYPERURICEMIA. IN THE FOLLOWING PART, WE REVIEW THE PATHOPHYSIOLOGY OF MAJOR COMPLICATIONS IN OBESITY AND HYPERURICEMIA INCLUDING INSULIN RESISTANCE AND TYPE 2 DIABETES MELLITUS, CHRONIC KIDNEY DISEASE, CARDIOVASCULAR DISEASES, AND CANCERS. FINALLY, WE RECAPITULATE THE THERAPEUTIC STRATEGIES ESPECIALLY THE NOVEL PHARMACEUTIC INTERVENTIONS FOR OBESITY AND HYPERURICEMIA, WHICH CONCURRENTLY SHOW THE MUTUAL METABOLIC INFLUENCES BETWEEN TWO DISEASES. CONCLUSION: THE DATA REVIEWED HERE DELINEATE THE METABOLIC RELATIONSHIPS BETWEEN OBESITY AND HYPERURICEMIA, AND PROVIDE A COMPREHENSIVE OVERVIEW OF THE THERAPEUTIC TARGETS FOR THE MANAGEMENT OF METABOLIC SYNDROMES.	2020	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                              
12  4007 21 LOW BIRTHWEIGHT AS A RISK FACTOR FOR NON-COMMUNICABLE DISEASES IN ADULTS. ACCORDING TO STUDIES UNDERTAKEN OVER THE PAST 40 YEARS, LOW BIRTHWEIGHT (LBW) IS NOT ONLY A SIGNIFICANT PREDICTOR OF PERINATAL DEATH AND MORBIDITY, BUT ALSO INCREASES THE RISK OF CHRONIC NON-COMMUNICABLE DISEASES (NCDS) IN ADULTHOOD. THE PURPOSE OF THIS PAPER IS TO SUMMARIZE THE RESEARCH ON LBW AS A RISK FACTOR FOR NCDS IN ADULTS. THE BARKER HYPOTHESIS WAS BASED ON THE FINDING THAT ADULTS WITH AN LBW OR AN UNHEALTHY INTRAUTERINE ENVIRONMENT, AS WELL AS A RAPID CATCH-UP, DIE DUE TO NCDS. OVER THE LAST FEW DECADES, TERMINOLOGY SUCH AS THRIFTY GENES, FETAL PROGRAMMING, DEVELOPMENTAL ORIGINS OF HEALTH AND DISEASE (DOHAD), AND EPIGENETIC FACTORS HAVE BEEN COINED. THE MOST COMMON NCDS INCLUDE CARDIOVASCULAR DISEASE, DIABETES MELLITUS TYPE 2 (DMT2), HYPERTENSION (HT), DYSLIPIDEMIA, PROTEINURIA, AND CHRONIC KIDNEY DISEASE (CKD). STUDIES IN MOTHERS WHO EXPERIENCED FAMINE AND THOSE THAT SOLELY REPORTED BIRTH WEIGHT AS A RISK FACTOR FOR MORTALITY SUPPORT THE CONCEPT. ALTHOUGH THE ETIOLOGY OF NCD IS UNKNOWN, BARRY BRENNER EXPLAINED THE NOTION OF A LOW GLOMERULAR NUMBER (NGLOM) IN LBW CHILDREN, FOLLOWED BY THE PROGRESSION TO HYPERFILTRATION AS THE PHYSIOPATHOLOGIC ETIOLOGY OF HT AND CKD IN ADULTS BASED ON GUYTON'S RENAL PHYSIOLOGY WORK. AUTOPSIES OF SEVERAL ETHNIC GROUPS HAVE REVEALED ANATOMOPATHOLOGIC EVIDENCE IN FETUSES AND ADULT KIDNEYS. BECAUSE OF THE RENAL RESERVE, DEMONSTRATING RENAL FUNCTION IN PROPORTION TO RENAL VOLUME IN VIVO IS MORE DIFFICULT IN ADULTS. THE GREATEST IMPACT OF THESE THEORIES CAN BE SEEN IN PEDIATRICS AND OBSTETRICS PRACTICE.	2021	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                       
13   363 19 AMBIENT AIR POLLUTION: HEALTH HAZARDS TO CHILDREN. AMBIENT AIR POLLUTION IS PRODUCED BY SOURCES INCLUDING VEHICULAR TRAFFIC, COAL-FIRED POWER PLANTS, HYDRAULIC FRACTURING, AGRICULTURAL PRODUCTION, AND FOREST FIRES. IT CONSISTS OF PRIMARY POLLUTANTS GENERATED BY COMBUSTION AND SECONDARY POLLUTANTS FORMED IN THE ATMOSPHERE FROM PRECURSOR GASES. AIR POLLUTION CAUSES AND EXACERBATES CLIMATE CHANGE, AND CLIMATE CHANGE WORSENS HEALTH EFFECTS OF AIR POLLUTION. INFANTS AND CHILDREN ARE UNIQUELY SENSITIVE TO AIR POLLUTION, BECAUSE THEIR ORGANS ARE DEVELOPING AND THEY HAVE HIGHER AIR PER BODY WEIGHT INTAKE. HEALTH EFFECTS LINKED TO AIR POLLUTION INCLUDE NOT ONLY EXACERBATIONS OF RESPIRATORY DISEASES BUT ALSO REDUCED LUNG FUNCTION DEVELOPMENT AND INCREASED ASTHMA INCIDENCE. ADDITIONAL OUTCOMES OF CONCERN INCLUDE PRETERM BIRTH, LOW BIRTH WEIGHT, NEURODEVELOPMENTAL DISORDERS, IQ LOSS, PEDIATRIC CANCERS, AND INCREASED RISKS FOR ADULT CHRONIC DISEASES. THESE EFFECTS ARE MEDIATED BY OXIDATIVE STRESS, CHRONIC INFLAMMATION, ENDOCRINE DISRUPTION, AND GENETIC AND EPIGENETIC MECHANISMS ACROSS THE LIFE SPAN. NATURAL EXPERIMENTS DEMONSTRATE THAT WITH INITIATIVES SUCH AS INCREASED USE OF PUBLIC TRANSPORTATION, BOTH AIR QUALITY AND COMMUNITY HEALTH IMPROVE. SIMILARLY, THE CLEAN AIR ACT HAS IMPROVED AIR QUALITY, ALTHOUGH EXPOSURE INEQUITIES PERSIST. OTHER EFFECTIVE STRATEGIES FOR REDUCING AIR POLLUTION INCLUDE ENDING RELIANCE ON COAL, OIL, AND GAS; REGULATING INDUSTRIAL EMISSIONS; REDUCING EXPOSURE WITH ATTENTION TO PROXIMITY OF RESIDENCES, SCHOOLS, AND CHILD CARE FACILITIES TO TRAFFIC; AND A GREATER AWARENESS OF THE AIR QUALITY INDEX. THIS POLICY REVIEWS BOTH SHORT- AND LONG-TERM HEALTH CONSEQUENCES OF AMBIENT AIR POLLUTION, ESPECIALLY IN RELATION TO DEVELOPMENTAL EXPOSURES. IT EXAMINES INDIVIDUAL, COMMUNITY, AND LEGISLATIVE STRATEGIES TO MITIGATE AIR POLLUTION.	2021	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                
14  4723 10 NONHUMAN PRIMATE MODELS OF POLYCYSTIC OVARY SYNDROME. WITH CLOSE GENOMIC AND PHENOTYPIC SIMILARITY TO HUMANS, NONHUMAN PRIMATE MODELS PROVIDE COMPREHENSIVE EPIGENETIC MIMICS OF POLYCYSTIC OVARY SYNDROME (PCOS), SUGGESTING EARLY LIFE TARGETING FOR PREVENTION. FETAL EXPOSURE TO TESTOSTERONE (T), OF ALL NONHUMAN PRIMATE EMULATIONS, PROVIDES THE CLOSEST PCOS-LIKE PHENOTYPES, WITH EARLY-TO-MID GESTATION T-EXPOSED FEMALE RHESUS MONKEYS EXHIBITING ADULT REPRODUCTIVE, ENDOCRINOLOGICAL AND METABOLIC DYSFUNCTIONAL TRAITS THAT ARE CO-PATHOLOGIES OF PCOS. LATE GESTATIONAL T EXPOSURE, WHILE INDUCING ADULT OVARIAN HYPERANDROGENISM AND MENSTRUAL ABNORMALITIES, HAS LESS DYSFUNCTIONAL METABOLIC ACCOMPANIMENT. FETAL EXPOSURES TO DIHYDROTESTOSTERONE (DHT) OR DIETHYLSTILBESTROL (DES) SUGGEST ANDROGENIC AND ESTROGENIC ASPECTS OF FETAL PROGRAMMING. NEONATAL EXPOSURE TO T PRODUCES NO PCOS-LIKE OUTCOME, WHILE CONTINUOUS T TREATMENT OF JUVENILE FEMALES CAUSES PRECOCIOUS WEIGHT GAIN AND EARLY MENARCHE (HIGH T), OR HIGH LH AND WEIGHT GAIN (MODERATE T). ACUTE T EXPOSURE OF ADULT FEMALES GENERATES POLYFOLLICULAR OVARIES, WHILE CHRONIC T EXPOSURE INDUCES SUBTLE MENSTRUAL IRREGULARITIES WITHOUT METABOLIC DYSFUNCTION.	2013	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                        
15  5186 19 PREMATURITY IN MICE LEADS TO REDUCTION IN NEPHRON NUMBER, HYPERTENSION, AND PROTEINURIA. THE NEPHRON NUMBER AT BIRTH IS A QUANTITATIVE TRAIT THAT CORRELATES INVERSELY WITH THE RISK OF HYPERTENSION AND CHRONIC KIDNEY DISEASE LATER IN LIFE. DURING KIDNEY DEVELOPMENT, THE NEPHRON NUMBER IS CONTROLLED BY MULTIPLE FACTORS INCLUDING GENETIC, EPIGENETIC, AND ENVIRONMENTAL MODIFIERS. PREMATURE BIRTH, WHICH REPRESENTS MORE THAN 12% OF ANNUAL LIVE BIRTHS IN THE UNITED STATES, HAS BEEN LINKED TO LOW NEPHRON NUMBER AND THE DEVELOPMENT OF HYPERTENSION LATER IN LIFE. IN THIS REPORT, WE DESCRIBE THE DEVELOPMENT OF A MOUSE MODEL OF PREMATURITY-INDUCED REDUCTION OF NEPHRON NUMBER. PREMATURE MICE, DELIVERED 1 AND 2 DAYS EARLY, HAVE 17.4 +/- 2.3% (N = 6) AND 23.6 +/- 2% (N = 10) FEWER NEPHRONS, RESPECTIVELY, WHEN COMPARED WITH FULL-TERM ANIMALS (12,252 +/- 571 NEPHRONS/KIDNEY, N = 10). AFTER 5 WEEKS OF AGE, THE MICE DELIVERED 2 DAYS PREMATURE SHOW LOWER REAL-TIME GLOMERULAR FILTRATION RATE (GFR, 283 +/- 13 VS 389 +/- 26 MUL/MIN). THE PREMATURE MICE ALSO DEVELOP HYPERTENSION (MEAN ARTERIAL PRESSURE [MAP], 134 +/- 18 VS 120 +/- 14 MM HG) AND ALBUMINURIA (286 +/- 83 VS 176 +/- 59 MUG ALBUMIN/MG CREATININE). THIS MOUSE MODEL PROVIDES A PROOF OF CONCEPT THAT PREMATURITY LEADS TO REDUCED NEPHRON NUMBER AND HYPERTENSION, AND THIS MODEL WILL BE USEFUL IN STUDYING THE PATHOPHYSIOLOGY OF PREMATURITY-INDUCED NEPHRON NUMBER REDUCTIONS AND HYPERTENSION.	2012	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                        
16  1386 27 DIABETES: AN UPDATE ON THE PANDEMIC AND POTENTIAL SOLUTIONS. DIABETES MELLITUS IS A CHRONIC METABOLIC DISEASE WITH DEADLY, DISABLING, AND COSTLY CONSEQUENCES FOR INDIVIDUALS, FAMILIES, COMMUNITIES, AND COUNTRIES. ALTHOUGH THEY ARE PHENOTYPICALLY DISTINCT, DIABETES SUBTYPES (TYPE 1, TYPE 2, GESTATIONAL, AND OTHER FORMS) ARE ALL DEFINED BY ELEVATED BLOOD GLUCOSE LEVELS. APPROXIMATELY 95 PERCENT OF DIABETES CASES WORLDWIDE ARE TYPE 2 DIABETES (PREVIOUSLY KNOWN AS ADULT-ONSET OR NON-INSULIN-DEPENDENT DIABETES), WHICH IS THE FOCUS OF THIS CHAPTER. TYPE 1 DIABETES (PREVIOUSLY KNOWN AS INSULIN-DEPENDENT DIABETES) MOST COMMONLY BEGINS IN CHILDHOOD AND ADOLESCENCE. GESTATIONAL DIABETES REFERS TO ELEVATED BLOOD GLUCOSE LEVELS DURING PREGNANCY AMONG WOMEN WITHOUT PREVIOUS DIABETES AND IS ASSOCIATED WITH FETAL, BIRTHING, AND EARLY CHILDHOOD COMPLICATIONS AS WELL AS HIGHER RISK OF THE MOTHER DEVELOPING POSTGESTATION DIABETES. THE GROWTH OF DIABETES AND ITS IMPACTS HAVE ACCELERATED WORLDWIDE SINCE THE END OF THE TWENTIETH CENTURY (NCD-RISC 2016), LIKELY CORRELATED WITH EXPANSION OF DIABETES RISK FACTORS, ESPECIALLY POPULATION AGING AND OBESITY. DIABETES IS A MULTIFACTORIAL CONDITION. BECAUSE GENETIC, EPIGENETIC, LIFESTYLE, ECONOMIC, AND PSYCHOSOCIAL FACTORS ALL CONTRIBUTE TO THE DEVELOPMENT OF DIABETES (MCCARTHY 2010; STUMVOLL, GOLDSTEIN, AND VAN HAEFTEN 2005), PREVENTING AND MANAGING THE CONDITION REQUIRE ACTION AT POLICY, PROGRAM, CLINICAL PRACTICE, AND INDIVIDUAL LEVELS (HILL AND OTHERS 2013). RELIABLE AND MEANINGFUL ESTIMATES OF BURDENS, RISK FACTORS, AND EFFECTIVENESS AND COST-EFFECTIVENESS OF INTERVENTIONS AS WELL AS EVALUATIONS OF EXISTING POLICIES, ARE LIMITED; DATA ARE ESPECIALLY SCARCE IN LOW- AND MIDDLE-INCOME COUNTRIES (LMICS). THIS CHAPTER FOCUSES ON WHAT CAN AND SHOULD BE DONE TO ADDRESS DIABETES. WE PRESENT THE AVAILABLE DATA REGARDING GLOBAL BURDENS AND TRENDS IN DIABETES; REVIEW AVAILABLE EVIDENCE AND ASSESS THE EFFECTIVENESS AND COST-EFFECTIVENESS OF INTERVENTIONS TO PREVENT, DETECT, AND CONTROL DIABETES; AND REPORT SUMMARY EXPERT OPINIONS REGARDING THE PRIORITY AND FEASIBILITY OF IMPLEMENTING THESE INTERVENTIONS. ASSIMILATING EVIDENCE FROM COUNTRIES AT DIFFERENT INCOME LEVELS, WE PROVIDE GLOBAL PERSPECTIVES ON THE DIABETES PANDEMIC, RECOMMEND PRIORITY INTERVENTIONS, AND IDENTIFY REMAINING DATA GAPS.	2017	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                    
17  2727 25 EXPLAINING THE BLACK-WHITE DISPARITY IN PRETERM BIRTH: A CONSENSUS STATEMENT FROM A MULTI-DISCIPLINARY SCIENTIFIC WORK GROUP CONVENED BY THE MARCH OF DIMES. IN 2017-2019, THE MARCH OF DIMES CONVENED A WORKGROUP WITH BIOMEDICAL, CLINICAL, AND EPIDEMIOLOGIC EXPERTISE TO REVIEW KNOWLEDGE OF THE CAUSES OF THE PERSISTENT BLACK-WHITE DISPARITY IN PRETERM BIRTH (PTB). MULTIPLE DATABASES WERE SEARCHED TO IDENTIFY HYPOTHESIZED CAUSES EXAMINED IN PEER-REVIEWED LITERATURE, 33 HYPOTHESIZED CAUSES WERE REVIEWED FOR WHETHER THEY PLAUSIBLY AFFECT PTB AND EITHER OCCUR MORE/LESS FREQUENTLY AND/OR HAVE A LARGER/SMALLER EFFECT SIZE AMONG BLACK WOMEN VS. WHITE WOMEN. WHILE DEFINITIVE PROOF IS LACKING FOR MOST POTENTIAL CAUSES, MOST ARE BIOLOGICALLY PLAUSIBLE. NO SINGLE DOWNSTREAM OR MIDSTREAM FACTOR EXPLAINS THE DISPARITY OR ITS SOCIAL PATTERNING, HOWEVER, MANY LIKELY PLAY LIMITED ROLES, E.G., WHILE GENETIC FACTORS LIKELY CONTRIBUTE TO PTB, THEY EXPLAIN AT MOST A SMALL FRACTION OF THE DISPARITY. RESEARCH LINKS MOST HYPOTHESIZED MIDSTREAM CAUSES, INCLUDING SOCIOECONOMIC FACTORS AND STRESS, WITH THE DISPARITY THROUGH THEIR INFLUENCE ON THE HYPOTHESIZED DOWNSTREAM FACTORS. SOCIOECONOMIC FACTORS ALONE CANNOT EXPLAIN THE DISPARITY'S SOCIAL PATTERNING. CHRONIC STRESS COULD AFFECT PTB THROUGH NEUROENDOCRINE AND IMMUNE MECHANISMS LEADING TO INFLAMMATION AND IMMUNE DYSFUNCTION, STRESS COULD ALTER A WOMAN'S MICROBIOTA, IMMUNE RESPONSE TO INFECTION, CHRONIC DISEASE RISKS, AND BEHAVIORS, AND TRIGGER EPIGENETIC CHANGES INFLUENCING PTB RISK. AS AN UPSTREAM FACTOR, RACISM IN MULTIPLE FORMS HAS REPEATEDLY BEEN LINKED WITH THE PLAUSIBLE MIDSTREAM/DOWNSTREAM FACTORS, INCLUDING SOCIOECONOMIC DISADVANTAGE, STRESS, AND TOXIC EXPOSURES. RACISM IS THE ONLY FACTOR IDENTIFIED THAT DIRECTLY OR INDIRECTLY COULD EXPLAIN THE RACIAL DISPARITIES IN THE PLAUSIBLE MIDSTREAM/DOWNSTREAM CAUSES AND THE OBSERVED SOCIAL PATTERNING. HISTORICAL AND CONTEMPORARY SYSTEMIC RACISM CAN EXPLAIN THE RACIAL DISPARITIES IN SOCIOECONOMIC OPPORTUNITIES THAT DIFFERENTIALLY EXPOSE AFRICAN AMERICANS TO LIFELONG FINANCIAL STRESS AND ASSOCIATED HEALTH-HARMING CONDITIONS. SEGREGATION PLACES BLACK WOMEN IN STRESSFUL SURROUNDINGS AND EXPOSES THEM TO ENVIRONMENTAL HAZARDS. RACE-BASED DISCRIMINATORY TREATMENT IS A PERVASIVE STRESSOR FOR BLACK WOMEN OF ALL SOCIOECONOMIC LEVELS, CONSIDERING BOTH INCIDENTS AND THE CONSTANT VIGILANCE NEEDED TO PREPARE ONESELF FOR POTENTIAL INCIDENTS. RACISM IS A HIGHLY PLAUSIBLE, MAJOR UPSTREAM CONTRIBUTOR TO THE BLACK-WHITE DISPARITY IN PTB THROUGH MULTIPLE PATHWAYS AND BIOLOGICAL MECHANISMS. WHILE MUCH IS UNKNOWN, EXISTING KNOWLEDGE AND CORE VALUES (EQUITY, JUSTICE) SUPPORT ADDRESSING RACISM IN EFFORTS TO ELIMINATE THE RACIAL DISPARITY IN PTB.	2021	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                     
18   759 22 CASE REPORT OF CUTANEOUS SQUAMOUS CELL CARCINOMA AT THE WRIST JOINT AND THE PUBLIC HEALTH CRISIS OF ARSENICOSIS. CONTEXT: ARSENICOSIS IS CAUSED BY LONG TERM (6 MONTHS PLUS) INGESTION OF ARSENIC ABOVE A SAFE DOSE, CHARACTERIZED BY SKIN LESIONS AND POSSIBLE INVOLVEMENT OF INTERNAL ORGANS. ARSENICOSIS IS COMMON IN INDIA AND BANGLADESH WHERE NATURALLY OCCURRING HIGH CONCENTRATIONS OF ARSENIC IN THE EARTH'S CRUST CONTAMINATE GROUND WATER, CAUSING ADVERSE HEALTH EFFECTS. CASE PRESENTATION: WE REPORT A CASE OF A 55-YEAR-OLD INDIAN MALE, RESIDENT OF A KNOWN ARSENIC ENDEMIC REGION OF UTTAR PRADESH WHO SUFFERED FROM CHARACTERISTIC PULMONARY AND CUTANEOUS FEATURES OF CHRONIC ARSENIC TOXICITY WHICH INCLUDED RADIOLOGICAL FINDINGS OF INTERSTITIAL LUNG DISEASE, HYPERKERATOTIC LESIONS OVER THE PALMS AND SOLES, RAIN DROP LIKE PIGMENTATION OVER THE TRUNK, AND CARCINOMATOUS CHANGES AT THE WRIST JOINT. THE PATIENT WAS STARTED ON CHELATING AGENTS (D-PENICILLAMINE) AND ORAL RETINOIDS (ISOTRETINOIN) FOLLOWED BY THE SURGICAL EXCISION OF THE CARCINOMA. DISCUSSION: ENVIRONMENTAL CONTAMINATION WITH ARSENIC IS A WELL-KNOWN HEALTH HAZARD IN SOUTH ASIAN COUNTRIES. THE MAIN SOURCE IS CONSUMPTION OF CONTAMINATED GROUND WATER FOR DOMESTIC PURPOSES. CUTANEOUS LESIONS, INTERNAL ORGAN INVOLVEMENT INCLUDING INTERSTITIAL LUNG DISEASE AND CARCINOMAS AS OBSERVED IN OUR PATIENT HAVE BEEN REPORTED IN THE LITERATURE. VARIOUS MECHANISMS LIKE EPIGENETIC CHANGES AND ARSENIC-INDUCED IMMUNE SUPPRESSION HAVE BEEN PROPOSED FOR THE DEVELOPMENT OF CUTANEOUS CARCINOMAS WITH PROLONGED EXPOSURE TO ARSENIC. RELEVANCE TO CLINICAL PRACTICE: AMONG THE VARIOUS CAUSES OF PALMO-PLANTAR HYPERKERATOSIS, ARSENICOSIS SHOULD BE KEPT IN MIND WHEN PRESENTING IN COMBINATION WITH PIGMENTARY CHANGES AND CARCINOMATOUS GROWTH FROM AN ARSENIC-ENDEMIC REGION. CONCLUSIONS: PEOPLE RESIDING IN ARSENIC-ENDEMIC REGIONS SHOULD BE MADE AWARE OF ARSENIC-RELATED HEALTH HAZARDS. RAINWATER HARVESTING AND GOOD NUTRITION ARE THE SIMPLEST MEASURES WHICH COULD BE ADOPTED BY THE EXPOSED POPULATION IN AFFECTED AREAS. SEVERAL METHODS HAVE ALSO BEEN EMPLOYED BY GOVERNMENTAL AND NON-GOVERNMENT ORGANIZATIONS TO SEPARATE ARSENIC FROM CONTAMINATED WATER TO COMBAT ARSENIC-RELATED DISEASES AND CARCINOMAS. COMPETING INTERESTS: THE AUTHORS DECLARE NO COMPETING FINANCIAL INTERESTS.	2021	
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                             
19  6416 21 THE SURVEY OF THE HEALTH OF WISCONSIN (SHOW) PROGRAM: AN INFRASTRUCTURE FOR ADVANCING POPULATION HEALTH SCIENCES. PURPOSE: THE SURVEY OF THE HEALTH OF WISCONSIN (SHOW) WAS ESTABLISHED IN 2008 BY THE UNIVERSITY OF WISCONSIN (UW) SCHOOL OF MEDICINE AND PUBLIC HEALTH (SMPH) WITH THE GOALS OF 1) PROVIDING A TIMELY AND ACCURATE PICTURE OF THE HEALTH OF THE STATE RESIDENTS; AND 2) SERVING AS AN AGILE RESOURCE INFRASTRUCTURE FOR ANCILLARY STUDIES. TODAY SHOW CONTINUES TO SERVE AS A VITAL POPULATION HEALTH RESEARCH INFRASTRUCTURE. PARTICIPANTS: SHOW CURRENTLY INCLUDES 5,846 ADULT AND 980 MINOR PARTICIPANTS RECRUITED BETWEEN 2008-2019 IN FOUR PRIMARY WAVES. WAVE I (2008-2013) INCLUDES ANNUAL STATEWIDE REPRESENTATIVE SAMPLES OF 3,380 ADULTS AGES 21 TO 74 YEARS. WAVE II (2014-2016) IS A TRIANNUAL STATEWIDE SAMPLE OF 1957 ADULTS (AGE >/=18 YEARS) AND 645 CHILDREN. WAVE III (2017) CONSISTS OF FOLLOW-UP OF 725 ADULTS FROM THE WAVE I AND BASELINE SURVEYS OF 222 CHILDREN IN SELECTED HOUSEHOLDS. WAVES II AND III INCLUDE STOOL SAMPLES COLLECTED AS PART OF AN ANCILLARY STUDY IN A SUBSET OF 784 INDIVIDUALS. WAVE IV CONSIST OF 517 ADULTS AND 113 CHILDREN RECRUITED FROM TRADITIONALLY UNDER-REPRESENTED POPULATIONS IN BIOMEDICAL RESEARCH INCLUDING AFRICAN AMERICANS AND HISPANICS IN MILWAUKEE COUNTY, WI. FINDINGS TO DATE: THE SHOW PROVIDES EXTENSIVE DATA TO EXAMINE THE INTERSECTIONALITY OF MULTIPLE SOCIAL DETERMINANTS AND POPULATION HEALTH. SHOW INCLUDES A LARGE BIOREPOSITORY AND EXTENSIVE HEALTH DATA COLLECTED IN A GEOGRAPHICALLY DIVERSE URBAN AND RURAL POPULATION. OVER 60 STUDIES HAVE BEEN PUBLISHED COVERING A BROAD RANGE OF TOPICS INCLUDING, URBAN AND RURAL DISPARITIES IN CARDIO-METABOLIC DISEASE AND CANCER, OBJECTIVE PHYSICAL ACTIVITY, SLEEP, GREEN-SPACE AND MENTAL HEALTH, TRANSCRIPTOMICS, THE GUT MICROBIOME, ANTIBIOTIC RESISTANCE, AIR POLLUTION, CONCENTRATED ANIMAL FEEDING OPERATIONS AND HEAVY METAL EXPOSURES. FUTURE PLANS: THE SHOW COHORT IS AVAILABLE FOR CONTINUED LONGITUDINAL FOLLOW-UP AND ANCILLARY STUDIES INCLUDING GENETIC, MULTI-OMIC AND TRANSLATIONAL ENVIRONMENTAL HEALTH, AGING, MICROBIOME AND COVID-19 RESEARCH. ARTICLE SUMMARY: STRENGTHS AND LIMITATIONS: THE SURVEY OF THE HEALTH OF WISCONSIN (SHOW) IS AN INFRASTRUCTURE TO ADVANCE POPULATION HEALTH SCIENCES INCLUDING BIOLOGICAL SAMPLE COLLECTION AND BROADER DATA ON INDIVIDUAL AND NEIGHBORHOOD SOCIAL AND ENVIRONMENTAL DETERMINANTS OF HEALTH.THE EXTENSIVE DATA FROM DIVERSE URBAN AND RURAL POPULATIONS OFFERS A UNIQUE STUDY SAMPLE TO COMPARE HOW SOCIO-ECONOMIC GRADIENTS SHAPE HEALTH OUTCOMES IN DIFFERENT CONTEXTS.THE OBJECTIVE HEALTH DATA SUPPORTS NOVEL INTERDISCIPLINARY RESEARCH INITIATIVES AND IS ESPECIALLY SUITED FOR RESEARCH IN CAUSES AND CONSEQUENCES OF ENVIRONMENTAL EXPOSURES (PHYSICAL, CHEMICAL, SOCIAL) ACROSS THE LIFE COURSE ON CARDIOMETABOLIC HEALTH, IMMUNITY, AND AGING RELATED CONDITIONS.THE EXTENSIVE BIOREPOSITORY SUPPORTS NOVEL OMICS RESEARCH INTO COMMON BIOLOGICAL MECHANISMS UNDERLYING NUMEROUS COMPLEX CHRONIC CONDITIONS INCLUDING INFLAMMATION, OXIDATIVE STRESS, METABOLOMICS, AND EPIGENETIC MODULATION.ANCILLARY STUDIES, SUCH AS THE WISCONSIN MICROBIOME STUDY, HAVE EXPANDED THE UTILITY OF THE STUDY TO EXAMINE HUMAN SUSCEPTIBILITY TO ENVIRONMENTAL EXPOSURES AND OPPORTUNITIES FOR INVESTIGATIONS OF THE ROLE OF MICROBIOME IN HEALTH AND DISEASE.LONG-STANDING PARTNERSHIPS AND RECENT PARTICIPATION AMONG TRADITIONALLY UNDER-REPRESENTED POPULATIONS IN BIOMEDICAL RESEARCH OFFER NUMEROUS OPPORTUNITIES TO SUPPORT COMMUNITY-DRIVEN HEALTH EQUITY WORK.NO BIOLOGICAL SAMPLES WERE COLLECTED AMONG CHILDREN.THE STATEWIDE SAMPLING FRAME MAY LIMIT GENERALIZABILITY TO OTHER REGIONS IN THE UNITED STATES.	2021	

20  6825 21 [GENETIC AND EPIGENETIC FACTORS OF POLYCYSTIC OVARY SYNDROME]. THE DEVELOPMENT OF POLYCYSTIC OVARY SYNDROME AND ITS EXACT PATHOPHYSIOLOGICAL MECHANISM IS STILL UNCLEAR, BUT ENVIRONMENTAL AND GENETIC FACTORS LIKELY PLAY A ROLE. EXPOSITION TO TERATOGENIC EFFECTS DURING THE PRENATAL DEVELOPMENT CAN LEAD TO CHRONIC DISEASES IN THE POSTNATAL PERIOD. THIS FINDING CONFIRMS THE COMMON FAMILIAL AGGREGATION AS WELL. A LITERATURE SEARCH WAS CONDUCTED UP TO JANUARY 1, 2016 FOR ARTICLES DEALING WITH THE GENETIC OR EPIGENETIC FACTORS OF POLYCYSTIC OVARY SYNDROME. THIS REVIEW WILL DISCUSS THE CURRENT UNDERSTANDING OF THE GENETIC BASIS AND CLINICAL PRESENTATION OF THIS DISEASE. ORV. HETIL., 2016, 157(32), 1275-1281.	2016