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Abstract Background Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme α-galactosidase A. Fabry disease is present in 4–5% of men with unexplained left ventricular hypertrophy or cryptogenic stroke. As enzyme replacement therapy is now more widely available, it is important to recognise the signs and symptoms of the disease and establish the diagnosis so that early treatment can be started before irreversible organ damage occurs. Case Presentation A previously fit and well 32-year-old Caucasian male presented with multisystem dysfunction including renal impairment. Although he had no suggestive symptoms, a diagnosis of Fabry disease was first established on a native renal biopsy. This was confirmed by enzymatic testing and subsequent genetic analysis that revealed a potentially new pathogenic variant. Conclusions This case highlights the importance both of Fabry disease as a differential diagnosis in patients with renal impairment in the context of multi-system disease and also of adequate tissue sampling for electron microscopy when performing native renal biopsies.

The prevalence of obesity among youth in the USA is currently >18% with projections that more than half of today's children will be obese as adults. The growth trajectory of children more likely to become obese is determined by weight in earliest childhood, and childhood body mass index (BMI) tracks through adolescence and adulthood. Childhood consequences of obesity include increased risk of asthma, type 2 diabetes mellitus, orthopedic disorders, and reduced academic performance. Health implications of obesity in adulthood include premature coronary artery disease, hypertension, type 2 diabetes, stroke, and certain cancers, contributing to the leading causes of adult mortality. Early childhood obesity is influenced by prenatal exposure to maternal obesity and environmental obesogens, and is associated with poverty, food insecurity, and poor nutritional quality. New strategies for primordial prevention of early childhood obesity require focusing attention on growth parameters during the first 2 y of life, with support for increasing the duration of breastfeeding, and improvements in dietary quality and availability, particularly the reduced consumption of added sugars. Reducing the prevalence of obesity among adolescent females and reducing exposure to environmental obesogens may reduce the prevalence of transgenerational obesity. The reduction of early childhood obesity could improve population health, quality of life, and longevity throughout the life course., (Copyright © The Author(s) on behalf of the American Society for Nutrition 2020.)

This study uses geostatistical techniques to model and estimate soil lead levels in an urban, residential neighborhood. Sixty-two composite soil samples (median 1773 ppm; range 175 to 7953 ppm) in a four-block area of brick and stone homes were obtained. The spatial continuity of soil lead levels was modeled with a semi-variogram, which was then used to estimate lead levels at unsampled locations, a process called kriging. Because soil lead levels were spatially correlated, it is likely that a "nonrandom" process generated the lead distribution found. This finding signifies the existence of lead sources which were tentatively identified on historical maps of the area and from past traffic volume patterns. The distribution of kriged estimates of soil lead levels provides an explanatory tool for exploring and identifying potential sources and may be useful for targeting urban soil abatement efforts.

Objective: To examine differences in the evaluation, management, and outcomes for patients seen in an on-site "fast track" (FT) vs the main ED., Methods: Over a three-month period, patients presenting to an urban pediatric ED were prospectively assessed. Patients included were: triaged as "nonurgent"; aged 2 months to 10 years; not chronically ill; and had fever, or complaint of vomiting, diarrhea, or decreased oral intake. Evening and weekend care was provided in the FT; at all other times these low-acuity patients were seen in the ED. Seven days after the visit, families were interviewed by telephone., Results: Four hundred seventy-nine and 557 patients were seen in the FT and ED, respectively. The patients in the two settings did not differ in age, clinical condition, race, or commercial insurance status. Patient mean test charges were $27 and $52 for the FT and ED, respectively (p < 0.01). Twenty-four percent of the FT patients vs 41% of the ED patients had tests performed (p < 0.01). Average length of stay was 28 minutes shorter in the FT (95% CI = 19 to 36, p < 0.01). Follow-up was completed for 480 of 755 families with telephones (64%). The FT and ED patients did not differ at follow-up: 90% vs 88% had improved conditions (p = 0.53), 18% vs 15% had received unscheduled follow-up care (p = 0.44), and 94% of the families in both groups were satisfied with the visit (p = 0.98)., Conclusions: Compared with those in the main ED, the study patients seen in the FT had fewer tests ordered and had briefer lengths of stay. These findings were not explained by differences in patient ages, vital signs, or demographic characteristics. No difference in final outcomes or satisfaction was detected among the families contacted for follow-up.

Objective: To examine the stability of the occurrence of psychiatric disorders in a nonpsychiatric sample of young children., Method: There were 510 children ages 2-5 years enrolled through pediatric practices, with 391 children participating in the second wave, and 344 in the third wave of data collection 42-48 months later. The assessment battery administered at each wave yielded best-estimate consensus DSM-III-R diagnoses and dimensional assessments of psychopathology., Results: The prevalence of disruptive disorders (DDs) decreased, while emotional disorders (EDs), other disorders, and comorbid DD increased. The DDs were associated with lower family cohesion, more maternal negative affect, stressful life events, and male gender. Comorbid DDs were associated with increasing age and family cohesion. Older children, lower family cohesion, and maternal negative affect were associated with EDs. Time trends for the dimensional assessment of psychopathology was similar to DSM-III-R disorders, but correlates differed., Conclusions: We discuss implications for service planning in pediatric primary care.

This paper explores various approaches to achieving representative and generalizable practice-based data. The data used were derived from original research conducted by the Pediatric Practice Research Group (PPRG), a research consortium including full-time staff at Children's Memorial Hospital and 132 practitioners in 35 Chicago-area practices in a variety of settings ranging from Chicago's inner city to rural northwest Indiana. Sampling issues addressed include sampling frame, source (population or practice), geographical representation, seasonal representation, survey instrument design, socioeconomic diversity, and contact and response rates.