IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

Context: Genetic evaluation has been recognized as an important tool to elucidate the causes of growth disorders.

Objective: To investigate the cause of short stature and to determine the phenotype of patients with IHH mutations, including the response to recombinant human growth hormone (rhGH) therapy.

Patients And Methods: We studied 17 families with autosomal-dominant short stature by using whole exome sequencing and screened IHH defects in 290 patients with growth disorders.

ANALYSIS OF DEATH AND PALLIATIVE CARE IN A NEONATAL INTENSIVE CARE UNIT.

Objective: To characterize cases of children admitted to the Neonatal Intensive Care Unit of a tertiary university hospital who died in the period ranging from January 01, 2012 to July 31, 2014, and who required palliative care and/or were subjected to it.

Methods: A retrospective descriptive study was carried out by reviewing the medical records of these patients to collect data and to perform descriptive statistical analysis.

Results: During the study period, 49 children died after at least 48 hours from the time of admission.

Polycystic Ovary Syndrome among Obese Adolescents.

Background And Aims: In adolescence and obesity, the pathophysiology of polycystic ovary syndrome (PCOS) is very difficult to distinguish. We aimed to assess the diagnosis of PCOS in the population of obese adolescent.

Methods: Cross-sectional study.

Translation and validation of diabetes self-management profile (DSMP) into Brazilian Portuguese language: first instrument to assess type 1 diabetes self-management in a pediatric population.

Objective: To translate and validate the instrument Diabetes Self-Management Profile (DSMP)-Conventional and Flexible Regimens into Brazilian Portuguese language in order to evaluate the quality of diabetes self-management in children and adolescents with type 1 diabetes and their caregivers.

Methods: DSMP was submitted to forward and back translation method and validated in a group of type 1 diabetes youths between 6 and 18 years (n = 102), and their families. Analysis of DSMP internal consistency, intra and interobserver reliability and concurrent correlation with HbA1c were done.

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

Costello syndrome is part of the RASopathies, a group of neurocardiofaciocutaneous syndromes caused by deregulation of the RAS mitogen-activated protein kinase pathway. Heterozygous mutations in HRAS are responsible for Costello syndrome, with more than 80% of the patients harboring the specific p.Gly12Ser variant.

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome.

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

We report on a 12-year-old Brazilian boy with the p.Pro49Arg mutation in PPP1CB, a novel gene associated with RASopathies. This is the fifth individual described, and the fourth presenting the same variant, suggesting a mutational hotspot.

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.

Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy in several occasions. Since the first cases in 1971, much has been learned about this condition, including its molecular basis - mutations in the leukemia inhibitory factor receptor gene (LIFR) -, natural history and management possibilities. This review aims to highlight the clinical aspects, radiological features, molecular findings, and management strategies in Stüve-Wiedemann syndrome.

Six-minute walk test in children and adolescents with renal diseases: tolerance, reproducibility and comparison with healthy subjects.

Objectives: To evaluate exercise tolerance and the reproducibility of the six-minute walk test in Brazilian children and adolescents with chronic kidney disease and to compare their functional exercise capacities with reference values for healthy children.

Methods: This cross-sectional study assessed the use of the six-minute walk test in children and adolescents aged 6-16 with stage V chronic kidney disease. For statistical analysis of exercise tolerance, including examinations of correlations and comparisons with reference values, the longest walked distances were considered.

Risk Factors for Mortality and Outcomes in Pediatric Acute Lung Injury/Acute Respiratory Distress Syndrome.

Objectives: Children admitted to PICUs often present with or develop respiratory failure that requires mechanical ventilation. We prospectively identified children admitted to three general PICUs, with the goal of identifying risk factors for mortality.

Design: Prospective multicenter observational study.

[Nephrotic syndrome as the first manifestation of juvenile systemic scleroderma.].

Renal involvement occurs in 1%-12% in juvenile systemic sclerosis (JSSc) patients, mainly with arterial hypertension, proteinuria and scleroderma renal crisis. We report herein a patient who presented nephrotic syndrome (NS) as the first manifestation of JSSc with focal segmental glomerulosclerosis (FSGS). A female patient presented steroid-sensitive NS at the age of 12 years.

Focused cardiac ultrasound: a training course for pediatric intensivists and emergency physicians.

Background: Focused echocardiographic examinations performed by intensivists and emergency room physicians can be a valuable tool for diagnosing and managing the hemodynamic status of critically ill children. The aim of this study was to evaluate the learning curve achieved using a theoretical and practical training program designed to enable pediatric intensivists and emergency physicians to conduct targeted echocardiograms.

Methods: Theoretical and practical training sessions were conducted with 16 pediatric intensivist/emergency room physicians.

Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports.

Introduction: Bloom syndrome is a rare, autosomal recessive, chromosomal instability disorder caused by mutations in the BLM gene that increase the risk of developing neoplasias, particularly lymphomas and leukemias, at an early age.

Case Presentation: Case 1 was a 10-year-old Brazilian girl, the third child of a non-consanguineous non-Jewish family, who was born at 36 weeks of gestation and presented with severe intrauterine growth restriction. She had Bloom syndrome and was diagnosed with a unilateral Wilms' tumor at the age of 3.

Hypotonic solution decreases serum sodium in infants with moderate bronchiolitis.

Aim: To investigate the influence of hypotonic parenteral hydration on serum and urinary sodium and osmolality in infants with moderate bronchiolitis.

Methods: We studied 36 infants (mean age 3.7 ± 2.

Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).

Hunter syndrome, or Mucopolysaccharidosis type II (MPS II), is a rare X-linked recessive disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The phenotypic spectrum varies from severe to attenuated clinical forms. We report a large Brazilian family with 16 affected individuals exhibiting a very attenuated form of MPS II.

Increased IgE serum levels are unrelated to allergic and parasitic diseases in patients with juvenile systemic lupus erythematosus.

Objective: The aim of this study was to assess the IgE serum levels in juvenile systemic lupus erythematosus patients and to evaluate possible associations with clinical and laboratory features, disease activity and tissue damage.

Methods: The IgE serum concentrations in 69 consecutive juvenile systemic lupus erythematosus patients were determined by nephelometry. IgG, IgM and IgA concentrations were measured by immunoturbidimetry.

The long-term use of enalapril and hydrochlorothiazide in two novel mutations patients with Dent's disease type 1.

Dent's disease type 1 is an X-linked tubular disease caused by mutations in the renal chloride channel CLCN-5, and it is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, and renal failure. Several cases have been described in which the only presenting symptoms were asymptomatic proteinuria, and focal segmental or global glomerulosclerosis. The renal failure in these patients may be caused by hypercalciuria and persistent proteinuria.

Nutrition therapy in a pediatric intensive care unit: indications, monitoring, and complications.

Background: Nutrition therapy (NT) is essential for the care of critically ill children. Inadequate feeding leads to malnutrition and may increase the patient's risk of morbidity and mortality. The aim of this study was to describe the NT used in a tertiary pediatric intensive care unit (PICU).

Home and ambulatory blood pressure to identify white coat and masked hypertension in the pediatric patient.

Objective: To evaluate the effect of the environment and the observer on the measurement of blood pressure (BP) as well as to compare home BP (HBP) and ambulatory BP (ABP) measurements in the diagnosis of white coat hypertension (WCH) and masked hypertension (MH) in children and adolescents with hypertension (HT).

Methods: BP of 40 patients with HT (75% of which had secondary HT and were on antihypertensive medication), mean age 12.1 years was evaluated through casual measurements at the clinic and at the HT unit, HBP for 14 days with the OMRON HEM 705 CP monitor (Omron, Tokyo, Japan) and ABP performed with SPACELABS 90207 (Spacelabs, Redmond, WA), for 24 h.

Alternative management of diabetic ketoacidosis in a Brazilian pediatric emergency department.

DKA is a severe metabolic derangement characterized by dehydration, loss of electrolytes, hyperglycemia, hyperketonemia, acidosis and progressive loss of consciousness that results from severe insulin deficiency combined with the effects of increased levels of counterregulatory hormones (catecholamines, glucagon, cortisol, growth hormone). The biochemical criteria for diagnosis are: blood glucose > 200 mg/dl, venous pH <7.3 or bicarbonate <15 mEq/L, ketonemia >3 mmol/L and presence of ketonuria.

Flow-through peritoneal dialysis in neonatal enema-induced hyperphosphatemia.

Fleet enemas are hypertonic solutions with an osmotic action and a high concentration of phosphate. When retained in the human body they have a great toxic potential, causing severe hydro-electrolyte disorders in children, especially in newborns. We report the case of a previously healthy 8-day-old newborn who needed neonatal intensive care treatment after the inadvertent administration of an osmotically active hypertonic phosphate enema.