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Hypopituitarism with deficiency of one or more pituitary hormones (combined pituitary hormone deficiency or CPHD) can vary in severity and age at presentation. Additionally, the hormone abnormalities may evolve with time necessitating frequent evaluation. These hormonal deficits can also be present as part of a syndrome, with patients showing extrapituitary abnormalities such as eye or forebrain malformations. Over the past decade, there has been an explosion in the knowledge of the genetic cascade that orchestrates hypothalamic and pituitary development. Several transcription factors and signaling molecules are critical for cell differentiation and proliferation at a very early stage of gestation. However, more genes remain to be identified in order to provide patients with a definitive aetiology. We studied 95 children with congenital hypopituitarism from seven pediatric hospitals from Argentina. Children with non-endocrine, non-familial idiopathic short stature served as a control group (n=100). A custom exon capture panel based on single-molecule molecular inversion probes sequencing (MIPS) was performed in probands and parents. This panel tests 104 genes: including a selection of reported and candidate genes chosen from our knowledge of pituitary development in mice and PROP1 interacting proteins. We found at least 1 variant in 50 probands. The prevalence of known variants in the pituitary transcription factor genes PROP1 and PIT1 (frequently mutated in CPHD) was low in our cohort. A significant number of disease-causing variants were found in LHX3, LHX4, GLI2 and OTX2. An important advance of our study is the identification of pathogenic variants in recently discovered and novel genes. We found an heterozygous variant in the Roundabout (ROBO) receptor homolog 1 gene: ROBO1;p.Arg1504* in a patient with CPHD and septo-optic dysplasia (SOD); two variants in Steroid Receptor SRA1: p. Ile179Thr and p.Val110delinsArgLeu in a patient with CPHD and hypogonadism hypogonadotropic and a missense variant in Semaphorin 3A SEMA3A: p.Val588Leu in a case of CPHD and aortic coarctation. Our findings support evidence that the etiology of congenital hypopituitarism is highly heterogeneous and may be infrequently monogenic with full penetrance, underlying a more complex pathogenesis. Presentation: Sunday, June 12, 2022 12:36 p.m. - 12:41 p.m., Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.

El Estado de Chile ha tenido una relación compleja con los pueblos indígenas derivado del modelo de Estado-nación chileno que ha marginado a los pueblos indígenas de los espacios de participación y debate político. Situaciones como la pandemia del Covid-19 y el proceso constituyente dan cuenta de las limitantes de este modelo. En 2020, se mantuvieron la estrategia de militarización en zonas mapuche o el asedio policial a comunidades y mujeres mapuche, el avance de una agenda legislativa orientada a la seguridad en la zona de la Araucanía, y la discusión en torno a los escaños reservados para los pueblos indígenas. Analizaremos aquí, desde la perspectiva de las políticas públicas, los contenidos y alcances de la agenda de gobierno para el año 2020, permitiendo evidenciar elementos relevantes que tensionan la relación entre el Estado y los pueblos indígenas, pero que pueden servir de base para introducir cambios a los procesos de toma de decisiones, si existe voluntad política para ello. El foco de análisis estará en el pueblo mapuche que ha sido quien ha tenido mayor protagonismo en esta agenda.

Objetivo: Correlacionar el ancho transpalatino (media dentaria) con los anchos maxilar y facial (medidas esqueléticas). Material y métodos: Estudio transversal, analítico, clínico-radiográfico. Se seleccionó aleatoriamente a 55 niños de 8 a 10 años de la Institución Educativa Sagrado Corazón de Jesús de Puno en el 2013. Se excluyeron niños que presenten: tratamiento ortodóncico previo, ausencia de primeros molares superiores, erupción incompleta de las primeras molares superiores, erupción ectópica de las primeras molares permanentes superiores, primeras molares permanentes superiores giroversadas, asimetría evidente del paladar, patologías como paladar hendido o síndromes genéticos. La evaluación clínica fue realizada por la investigadora en Dentosalud”, en un ambiente iluminado. Resultados: Los niños mestizos peruanos presentan el ancho facial mayor que los caucásicos y menor que los niños puneños. El desarrollo transversal del maxilar es mayor en los niños mestizos peruanos que participaron en el estudio que en los caucásicos y fue muy similar a la de los niños puneños. Los niños mestizos presentan el ancho transpalatino mayor que los niños caucásicos. Existe correlación lineal de Pearson altamente significativa al 99% entre el ancho transpalatino y el ancho maxilar. Existe correlación lineal de Pearson altamente significativa al 99% entre el ancho transpalatino y el ancho fácil. Por la existencia de un alto grado de correlación entre el ancho maxilar y transpalatino, este trabajo se presenta como una ayuda diagnostica para elegir el tratamiento en displasias transversales. Conclusiones: Existe correlación lineal entre el ancho transpalatino y el ancho maxilar y facial.

In just a few months, coronavirus disease 2019 (COVID-19) has become a pandemic, causing millions of cases and hundreds of thousands of deaths. Due to its high infectiousness, the health care staff is even more exposed. Nevertheless, there is still very limited information about it, especially among pediatricians.To assess the seroprevalence of SARSCoV- 2 antibodies among physicians from a children's hospital 3 months after the first case in Argentina. To explore if certain demographic, occupational, and epidemiological characteristics are risk factors for SARS-CoV-2 seropositivity.Cross-sectional study of physicians randomly selected from the list of workers of a children's hospital. All of them were screened for SARS-CoV-2 antibodies by chemiluminescence (immunoglobulins G/M [IgG/IgM]) and their epidemiological history was collected (age, place of residence, professional category, contact with infected people) in order to explore the association between predictors and seropositivity.A total of 116 physicians were included; their average age was 45.6 ± 13.3 years. Of them, 62.9 % were staff physicians, and the rest, residents; 42.2 % worked in areas designated for direct care of COVID-19 patients. Four (3.5 %) referred contact with infected people without the appropriate protection, and 6 (5.2 %), having traveled to risk areas. SARS-CoV-2 antibodies (IgG) were only detected in one of the professionals. Because of this, it was impossible to assess the association between potential predictors and the presence of SARS-CoV-2 antibodies.It was observed that only 0.9 % of the physicians from a children's hospital had SARS-CoV-2 antibodies.Introducción. En pocos meses, la enfermedad por coronavirus 2019 (COVID-19) se transformó en una pandemia, alcanzando millones de casos y centenas de miles de muertos. Por la enorme capacidad de contagio, el personal de salud se encuentra más expuesto a contraerla. Sin embargo, aún hay muy poca información al respecto, particularmente, entre pediatras. Objetivo. Evaluar la seroprevalencia de anticuerpos anti SARS-CoV-2 en médicos de un hospital pediátrico, a 3 meses del primer caso en la Argentina. Explorar si algunas características demográficas, profesionales y epidemiológicas son factores de riesgo para presentar seropositividad para SARS-CoV-2. Métodos. Estudio transversal, con médicos seleccionados aleatoriamente de la nómina de un hospital pediátrico. En todos, se pesquisaron anticuerpos anti SARS-CoV-2 por quimioluminiscencia (inmunoglobulinas G/M -IgG/IgM-) y se recogieron antecedentes epidemiológicos (edad, lugar de residencia, categoría profesional, contacto con enfermos), para explorar asociación entre los predictores y seropositividad. Resultados. Se incluyeron 116 médicos, con una edad promedio de 45,6 ± 13,3 años. El 62,9 % eran médicos de planta, y el resto, residentes. El 42,2 % prestaban servicios en áreas dedicadas a la asistencia directa de pacientes con COVID-19. Cuatro (el 3,5 %) refirieron contacto con enfermos sin la debida protección, y 6 (el 5,2 %), viaje previo a zonas de riesgo. Solo se identificaron anticuerpos anti-SARS-CoV-2 (IgG) en un profesional. Debido a ello, no se pudo evaluar asociación entre los potenciales predictores y la presencia de anticuerpos anti-SARS-CoV-2. Conclusión. Se encontró que solo el 0,9 % de los médicos de un hospital pediátrico presentaban anticuerpos anti-SARS-CoV-2.

Prospective memory (PM), “remembering to remember,” has been linked to important functional outcomes in adults. Studies of PM in children and adolescents would benefit from the development and validation of developmentally appropriate clinical measures with known psychometric properties. The Prospective Memory Assessment for Children & Youth (PROMACY), a performance-based measure of PM, was developed for the Pediatric HIV/AIDS Cohort Study Adolescent Master Protocol, Memory and Executive Functioning Substudy, and includes Summary, Time-, and Event-based scores derived from eight trials with an ongoing word search task. Fifty-four healthy perinatally HIV-exposed, uninfected children and youth, mean age 13 years, 54% female, 76% Black/non-Hispanic, and 61% impoverished were included in this psychometric analysis. PROMACY Summary Scores demonstrated low, but broadly acceptable internal consistency as measured by Cronbach’s alpha and Spearman-Brown. Better PROMACY performance was associated with older age, but no other demographic factors. Generally medium-sized correlations were observed between the PROMACY Summary Score and standard clinical measures of retrospective memory, working memory, executive functions, and IQ. Findings from this preliminary psychometric study of non-clinical children and youth provide cautious support for the internal consistency and construct validity of PROMACY’s Summary Score that awaits replication and extension in larger samples of healthy children, youth and clinical populations.

Pregnancy is probably the most important challenge in young women with chronic kidney disease (CKD). The challenge is greater in developing countries, in which access to dialysis is uneven, and prenatal care for CKD patients is not uniformly available. This case report summarizes some of the challenges faced by pregnant CKD women in a developing country. A 35-year-old woman, affected by an undiagnosed kidney disease, experienced preeclampsia at 24 years of age, and started dialysis in emergency at age 31 in the context of severe preeclampsia in her second pregnancy. Following slow recovery of kidney function, after 18 months of dialysis she started a moderately restricted, supplemented, low-protein diet, which allowed her to discontinue dialysis. A few months after dialysis discontinuation, she started a new pregnancy in the presence of severely reduced kidney function (serum creatinine 4.6 mg/dl at the last pre-pregnancy control). Interestingly, she discontinued nephrology and nutritional follow-up, mainly because she was worried that she would be discouraged from continuing the pregnancy, but also because she continued to feel well. She self-managed her diet in pregnancy and delivered a healthy baby, with normal intrauterine growth, at term; while the last laboratory data confirmed the presence of severe kidney function impairment, she is still dialysis-free at the time of the present report. Her story, with its happy ending, underlines the importance of dedicated programs for CKD pregnancies in developing countries and confirms the safety of moderately protein-restricted diets in pregnancy.

Objectives To estimate birth prevalence of congenital cytomegalovirus (cCMV) in HIV-exposed uninfected children born in the current era of combination antiretroviral therapy and describe cCMV-related neurodevelopmental and hearing outcomes. Study design The Surveillance Monitoring for ART Toxicities cohort study follows HIV-exposed uninfected children at 22 sites in the US and Puerto Rico. Birth cCMV prevalence was estimated in a subset of participants who had blood pellets collected within three weeks of birth and underwent ≥1 of 6 assessments evaluating cognitive and language development including an audiologic examination between 1 and 5 years of age. Detection of CMV DNA by polymerase chain reaction testing of peripheral blood mononuclear cells was used to diagnose cCMV. Proportions of suboptimal assessment scores were compared by cCMV status using Fisher exact test. Results Mothers of 895 eligible HIV-exposed uninfected children delivered between 2007 and 2015. Most (90%) were on combination antiretroviral therapy, 88% had an HIV viral load of ≤400 copies/mL, and 93% had CD4 cell counts of ≥200 cells/μL. Eight infants were diagnosed with cCMV, yielding an estimated prevalence of 0.89% (95% CI, 0.39%-1.75%). After adjusting for a sensitivity of 70%-75% for the testing method, projected prevalence was 1.2%-1.3%. No differences were observed in cognitive, language and hearing assessments by cCMV status. Conclusions Although birth cCMV prevalence in HIV-exposed uninfected children born to women with well-controlled HIV is trending down compared with earlier combination antiretroviral therapy-era estimates, it is above the 0.4% reported for the general US population. HIV-exposed uninfected children remain at increased risk for cCMV.

After nearly four years of study, evaluation, and deliberation, the Madison, Wisconsin, Ad Hoc Committee charged with undertaking a comprehensive review of the Madison Police Department (MPD) has completed its work and issued its final report. The report contains 177 specific recommendations to chart a path for the future that will help bring together Madison's diverse communities and its police department, build mechanisms for collaboration and trust through enhanced civilian input and oversight of the policing function, and ensure that the Madison Police Department continues its long-standing ideals of community policing and problem-oriented policing. The centerpiece of the report and its recommendations is that Madison should create structures for civilian oversight of police through a new Office of an Independent Monitor that responds to a Civilian Review Board, composed of civilians who reflect all of Madison's diverse communities and the lived experiences of those members of the community who frequently come into contact with the police. That recommendation was submitted to the Common Council separately on August 6, 2019, and was accepted by the Council. The Mayor's budget includes $200,000 to implement that recommendation. Other recommendations include proposals aimed at improving the MPD's relations with the Madison Community, including addressing race and equity concerns; enhancing the MPD's commitment to and practice of community policing and problem-oriented policing; enhancing the MPD's ability to respond effectively and sensitively to individuals in mental health crises; minimizing the need to resort to and the frequency of incidents of police use of force, including deadly force; improving accountability and transparency; creating processes for learning from bad outcomes, including police or civilian fatalities; and others.

Learning and memory in youth with perinatally acquired HIV (PHIV) are poorly understood, despite their importance for academic, healthcare and daily functioning.PHIV (n = 173) and perinatally HIV-exposed but uninfected (PHEU, n = 85) participants (aged 9-19 years) in a substudy of the Pediatric HIV/AIDS Cohort Study completed age-standardized tests of verbal and visual learning and delayed memory. Linear regression models implemented via generalized estimating equations were used to compare memory measures in PHEU participants versus PHIV youth with and without Centers for Disease Control and Prevention class C diagnosis (PHIV-C, n = 45 and PHIV-non-C, n = 128, respectively), adjusting for sociodemographic covariates.Participants (mean age = 14.10 years) were 54% female, 75% Black and 18% Hispanic. Although unadjusted analyses showed significantly lower visual recognition memory and verbal delayed recall for PHIV-C compared with PHEU participants and lower verbal learning for PHIV-C and non-C groups compared with PHEU, differences persisted only for visual recognition memory after adjusting for sociodemographic covariates. For PHIV youth, current CD4%25 was associated with poorer verbal learning, and older age at peak viral load was associated with poorer verbal delayed recall and design memory.Youth with PHIV, particularly those with Centers for Disease Control and Prevention class C diagnosis, showed poorer performance on some measures of learning and memory compared with PHEU. Although group differences in verbal memory were largely attributable to sociodemographic characteristics, associations of class C diagnosis with poorer visual recognition memory and of current CD4% with poorer verbal learning suggest subtle effects of HIV on learning and memory in youth with PHIV.

Background Concentrations of cholesterol and triacylglycerol are commonly believed to be low in persons with cystic fibrosis and thus not of concern. Objective The goal was to determine whether concentrations of cholesterol and triacylglycerol are related to glucose tolerance or nutritional status in patients with cystic fibrosis. Design Fasting lipid profiles were measured in 192 patients ( +/- SD age: 21 +/- 11 y) in conjunction with an oral-glucose-tolerance test. Results Cystic fibrosis patients in all age groups had higher triacylglycerol (1.51 +/- 0.95 mmol/L) and lower cholesterol (3.57 +/- 0.96 mmol/L) concentrations than US population means. Thirty patients (16%) had hypertriglyceridemia (3.22 +/- 1.22 mmol/L), and 8 patients (4%) had elevated cholesterol (6.05 +/- 1.32 mmol/L). In most cases, hypertriglyceridemia was isolated; only 3 subjects had elevation of both cholesterol and triacylglycerol. Lipid concentrations were not related to body mass index, weight, glucose tolerance, the areas under the curve for glucose or insulin, or glycated hemoglobin. Lipid concentrations also did not correlate with cystic fibrosis genotype, use of systemic steroids, blood pressure, liver enzymes, C-reactive protein, or pulmonary function. Conclusions Isolated hypertriglyceridemia appears to be common in cystic fibrosis, whereas cholesterol concentrations are generally low. Hypertriglyceridemia may be related to chronic low-grade inflammation or to a dietary macronutrient imbalance with excessive simple carbohydrate absorption relative to fat absorption. Whether it is associated with a risk of cardiovascular disease in this population is uncertain, but the clinical significance of triacylglycerol elevation may become important as survival improves.