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Introduction: We report a pediatric case of primary hyperparathyroidism due to a parathyroid adenoma and Cushing’s disease due to a pituitary adenoma. Clinical Case: The patient presented at 13.5 years old for hypertension that was discovered during an exam for weight loss, headaches, and paresthesias. Evaluation was significant for elevated blood pressure (148/98 mmHg), obesity (BMI 96.5%), striae, and he was found to be midpubertal. Tests showed calcium levels 10.7 (RR 8.6-10.6 mg/dL), aldosterone 2.4 (RR 4.0-31.0), and 24 hour urine cortisol/creatinine 451 ug/g (prepubertal RR< 25, >18 yo

Background Understanding the patterns of HIV/AIDS epidemics is crucial to tracking and monitoring the progress of prevention and control efforts in countries. We provide a comprehensive assessment of the levels and trends of HIV/AIDS incidence, prevalence, mortality, and coverage of antiretroviral therapy (ART) for 1980-2017 and forecast these estimates to 2030 for 195 countries and territories. Methods We determined a modelling strategy for each country on the basis of the availability and quality of data. For countries and territories with data from population-based seroprevalence surveys or antenatal care clinics, we estimated prevalence and incidence using an open-source version of the Estimation and Projection Package - a natural history model originally developed by the UNAIDS Reference Group on Estimates, Modelling, and Projections. For countries with cause-specific vital registration data, we corrected data for garbage coding (ie, deaths coded to an intermediate, immediate, or poorly defined cause) and HIV misclassification. We developed a process of cohort incidence bias adjustment to use information on survival and deaths recorded in vital registration to back-calculate HIV incidence. For countries without any representative data on HIV, we produced incidence estimates by pulling information from observed bias in the geographical region. We used a re-coded version of the Spectrum model (a cohort component model that uses rates of disease progression and HIV mortality on and off ART) to produce agesex- specific incidence, prevalence, and mortality, and treatment coverage results for all countries, and forecast these measures to 2030 using Spectrum with inputs that were extended on the basis of past trends in treatment scale-up and new infections. Findings Global HIV mortality peaked in 2006 with 1·95 million deaths (95% uncertainty interval 1·87-2·04) and has since decreased to 0·95 million deaths (0·91-1·01) in 2017. New cases of HIV globally peaked in 1999 (3·16 million, 2·79-3·67) and since then have gradually decreased to 1·94 million (1·63-2·29) in 2017. These trends, along with ART scale-up, have globally resulted in increased prevalence, with 36·8 million (34·8-39·2) people living with HIV in 2017. Prevalence of HIV was highest in southern sub-Saharan Africa in 2017, and countries in the region had ART coverage ranging from 65·7% in Lesotho to 85·7% in eSwatini. Our forecasts showed that 54 countries will meet the UNAIDS target of 81% ART coverage by 2020 and 12 countries are on track to meet 90% ART coverage by 2030. Forecasted results estimate that few countries will meet the UNAIDS 2020 and 2030 mortality and incidence targets. Interpretation Despite progress in reducing HIV-related mortality over the past decade, slow decreases in incidence, combined with the current context of stagnated funding for related interventions, mean that many countries are not on track to reach the 2020 and 2030 global targets for reduction in incidence and mortality. With a growing population of people living with HIV, it will continue to be a major threat to public health for years to come. The pace of progress needs to be hastened by continuing to expand access to ART and increasing investments in proven HIV prevention initiatives that can be scaled up to have population-level impact. © 2019 The Author(s).

Objective: We report an unusual case of Prader-Willi Syndrome (PWS) presenting with clinical signs and symptoms suggestive of Angelman Syndrome (AS), without exclusive features of PWS.Methods: A deletion in the 15q11-13 region is associated with 2 distinctive genetic syndromes depending on the parent of origin: AS and PWS. AS is characterized by developmental delays, seizures, microcephaly, movement or balance disorders, speech disorders, and happy demeanor. PWS is characterized by hypotonia, hyperphagia, and developmental delays. An 11.5-year-old female was evaluated for developmental delay with cognitive disabilities, minimal speech, echolalia, and continuous hand motions. The patient had a pleasant but minimally interactive demeanor.Results: Chromosomal microarray analysis revealed a 5.02 Mb interstitial deletion of 15q11.2>q13.1 (base pairs 21,192,943 to 26,213,571), consistent with PWS or AS, and a 604 kb interstitial duplication of 16p11.2 (base pairs 29,530,197 to 30,134,432). Based on her presentation, AS was suspected; however, methylation analysis confirmed the diagnosis of PWS, with the presence of only the maternal copy of 15q11.2q13.1.Conclusion: Although variable phenotypic presentation of PWS has been reported, this case is particularly unusual in having only a few typical features of PWS while presenting as possible AS. We postulate that the 16p11.2 duplications, involving an autism susceptibility region, may have attenuated some features of PWS.Abbreviations: AS = Angelman Syndrome; ASD = Autism Spectrum Disorder; BMI = body mass index; CMA = chromosomal microarray; PWS = Prader-Willi Syndrome

Asthma is the most common chronic lower respiratory disease in childhood throughout the world. Several guidelines and/or consensus documents are available to support medical decisions on pediatric asthma. Although there is no doubt that the use of common systematic approaches for management can considerably improve outcomes, dissemination and implementation of these are still major challenges. Consequently, the International Collaboration in Asthma, Allergy and Immunology (iCAALL), recently formed by the EAACI, AAAAI, ACAAI, and WAO, has decided to propose an International Consensus on (ICON) Pediatric Asthma. The purpose of this document is to highlight the key messages that are common to many of the existing guidelines, while critically reviewing and commenting on any differences, thus providing a concise reference. The principles of pediatric asthma management are generally accepted. Overall, the treatment goal is disease control. To achieve this, patients and their parents should be educated to optimally manage the disease, in collaboration with healthcare professionals. Identification and avoidance of triggers is also of significant importance. Assessment and monitoring should be performed regularly to re-evaluate and fine-tune treatment. Pharmacotherapy is the cornerstone of treatment. The optimal use of medication can, in most cases, help patients control symptoms and reduce the risk for future morbidity. The management of exacerbations is a major consideration, independent of chronic treatment. There is a trend toward considering phenotype-specific treatment choices; however, this goal has not yet been achieved. © 2012 John Wiley & Sons A/S.

Objective The mouse serves as an important model for insulin-like (IGF)-related research. However, lack of homologous mouse assays has prevented studies of the normal ontology of the murine IGF system. Therefore, we developed and validated immunoaassays for murine IGF-I, IGFBP-3 and ALS and studied levels of these analytes in mice. Methods Using commercially available reagents, we developed and validated specific enzyme-linked immunosorbent assays (ELISAs) for murine IGF-I, IGFBP-3, and ALS. Levels of these analytes were measured in sera from CD-1 mice, male and female, sampled at 1, 2, 4, 8, 20 and 32 weeks of age. In addition, sera from pregnant and postpartum CD-1 mice were also studied. Results Validation of specific ELISAs for murine IGF-I, IGFBP-3 and ALS are described; all 3 assays were highly sensitive, precise and accurate. As measured by our homologous ELISA, IGF-I levels (ng/mL, mean ± SD) in male mice were relatively low at 1 week (53 ± 8), rising sharply to peak at 8 weeks of age (636 ± 48), and gradually declining thereafter, reaching 395 ± 64 at 32 weeks. IGF-I levels in non-pregnant female mice peaked at 4 weeks of age (548 ± 77) declined at 8 weeks (417 ± 61), then recovered to plateau at 539 ± 78 and 535 ± 88 at 20 and 32 weeks, respectively. In male mice, trends in IGFBP-3 were similar to the patterns of IGF-I. However, in non-pregnant female mice, the IGFBP-3 levels declined relatively slowly after peaking at 4-weeks of age, unlike IGF-I levels during this period. ALS levels followed the same pattern as IGF-I in both sexes. IGF-I to IGFBP-3 molar ratios (percent) were similar between sexes, rising continuously with age: ∼30% at 1 week, 80% at 4 weeks, 135% at 32 weeks. IGF-I was reduced in 8 week old mice in mid-pregnancy (354 ± 75 vs 417 ± 61 in non-pregnant 8 week females), reaching a nadir in late-term (146 ± 40), and only partially recovering in the postpartum period (239 ± 23). IGFBP-3 was also lower in late-pregnancy (1245 ± 100 vs 1925 ± 439) and remained depressed postpartum. In contrast to IGF-I and IGFBP-3, ALS increased more than threefold in mid-pregnancy (12180 ± 1641 vs 3741 ± 910), followed by a 4-fold decrease in late-pregnancy (2964 ± 489), recovering postpartum (6104 ± 1178). Conclusions We report the first ontological studies of IGF-I, IGFBP-3 and ALS in mice using newly-characterized sensitive, homologous immunoassays. Our results indicate that mice have a generally similar pattern in IGF-related axis components, with low levels early in life, increasing to peak during sexual maturation and declining thereafter. Significant gender differences in non-pregnant levels and dramatic changes during pregnancy were also found. Knowledge of the normal developmental changes in the murine IGF system and accurate tools for investigations of this system are a necessary foundation for research in this field.