Developmental impairment in children exposed during pregnancy to maternal SARS-COV2: A Brazilian cohort study.

Objectives: To determine the effects of in-utero exposure to maternal SARS-CoV-2 infection on offspring's neurodevelopment during the first year of life.

Methods: We performed a prospective cohort of babies exposed to SARS-CoV-2 during pregnancy, and a control group (CG) of unexposed babies in a low-income area in Brazil. Children's neurodevelopment was assessed using the guide for Monitoring Child Development in the Integrated Management of Childhood Illness context for both groups (at 1,2,3,4,5,6, 9, and 12 months), and the Ages & Stages Questionnaire (ASQ-3) for the exposed group (EG) (at 4, 6 and 12 months).

Maternal and Neonatal Outcomes Associated with Mild COVID-19 Infection in an Obstetric Cohort in Brazil.

Previous coronavirus epidemics were associated with increased maternal morbidity, mortality, and adverse obstetric outcomes. Reports for SARS-CoV-2 indicate that the obstetric population is at increased risk for severe illness, although there are still limited data on mild COVID-19 infection during pregnancy. To determine the association between mild COVID-19 infection during pregnancy, and maternal and neonatal outcomes, we performed a prospective cohort study among pregnant women with COVID-19 and a control group.

Perspective of pediatricians and adolescent patients on the transition process in a university hospital.

Objective: To map the transition process from the perspective of pediatricians and their adolescent patients, and to suggest a transition protocol.

Methods: This is a descriptive, cross-sectional study conducted in a pediatric outpatient clinic of a public tertiary hospital. Pediatricians answered a questionnaire about the transition process, and that was evaluated in a descriptive manner.

Adaptation of the Youth Connectedness to Provider scale to assess the relationship between health professionals and adolescent and young adult patients.

Objective: The aim was to adapt an instrument that evaluates the relationship between young individuals and health professionals to the Brazilian population, which will be called the Escala de Avaliação de Vínculo entre Jovens e Profissionais de Saúde (Youth Connectedness to Provider scale).

Method: The questionnaire known as the Youth Connectedness to Provider scale consists of seven Likert-like questions. The translation, back-translation, evaluation by ten specialists, and pre-test with 43 adolescents and young adults aged between 10 and 24 years were performed to assess the clarity and reliability of meanings.

Neonatal screening: 9% of children with filter paper thyroid-stimulating hormone levels between 5 and 10μIU/mL have congenital hypothyroidism.

Objectives: To determine the prevalence of congenital hypothyroidism in children with filter-paper blood-spot TSH (b-TSH) between 5 and 10μIU/mL in the neonatal screening.

Methods: This was a retrospective study including children screened from 2003 to 2010, with b-TSH levels between 5 and 10μIU/mL, who were followed-up during the first two years of life when there was no serum TSH normalization. The diagnosis of congenital hypothyroidism was defined as serum TSH ≥10μIU/mL and start of levothyroxine treatment up to 2 years of age.

The future of screening, brief intervention and referral to treatment in adolescent primary care: research directions and dissemination challenges.

Purpose Of Review: Screening, brief intervention and referral to treatment (SBIRT) offers a practical, integrated model for addressing substance use in primary care settings. This review provides an update of the research on SBIRT for adolescents in primary care, examines current dissemination challenges and suggests future research directions.

Recent Findings: A number of brief screening tools for adolescents have been developed and tested relative to Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) substance use disorders.

Apoptosis through Death Receptors in Temporal Lobe Epilepsy-Associated Hippocampal Sclerosis.

Seizure models have demonstrated that neuroinflammation and neurodegeneration are preponderant characteristics of epilepsy. Considering the lack of clinical studies, our aim is to investigate the extrinsic pathway of apoptosis in pharmacoresistant temporal lobe epilepsy (TLE) associated with hippocampal sclerosis (HS) patients, TLE(HS). By a specific death receptor-mediated apoptosis array plate, 31 upregulated targets were revealed in the sclerotic hippocampus from TLE(HS) patients.

BTK mutations selectively regulate BTK expression and upregulate monocyte XBP1 mRNA in XLA patients.

Mutations in the Bruton agammaglobulinemia tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA). Unfolded or misfolded proteins can trigger stress pathways in the endoplasmic reticulum (ER), known as unfolded protein response (UPR). The aim was to clarify the involvement of UPR in XLA pathophysiology.

Polyclonality of Parathyroid Tumors in Neonatal Severe Hyperparathyroidism.

Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder characterized by major hypercalcemia, elevated parathyroid hormone levels, and marked enlargement of multiple parathyroid glands, usually associated with germline mutations in the calcium receptor gene CASR. However, little is known about the outgrowth of parathyroid tumors in NSHPT, including whether they represent monoclonal or polyclonal expansions. We sought to examine the clonality of parathyroid tissues resected from a patient with NSHPT and biallelic CASR mutations.

Prader-Willi syndrome: a case report with atypical developmental features.

Objective: To describe the case of a male Prader-Willi syndrome (PWS) patient with atypical development features.

Description: We report the case of a male adolescent with confirmed diagnosis of PWS which presents atypical phenotype. The patient progressed with spontaneous and complete pubertal development, stature in the normal range, and weight control without any pharmacological treatment, except metformin.

The severity of Osteogenesis imperfecta and type I collagen pattern in human skin as determined by nonlinear microscopy: proof of principle of a diagnostic method.

Background: The confirmatory diagnosis of Osteogenesis Imperfecta (OI) requires invasive, commonly bone biopsy, time consuming and destructive methods. This paper proposes an alternative method using a combination of two-photon excitation fluorescence (TPEF) and second-harmonic generation (SHG) microscopies from easily obtained human skin biopsies. We show that this method can distinguish subtypes of human OI.

Comparison of cervical length in adult and adolescent nulliparae at mid-gestation.

Study Objective: To compare cervical lengths of adolescents and adults in mid-gestation.

Design: An analytical, observational, and cross-sectional study.

Setting: Public health system in the city of Blumenau, Brazil.

Hippocampal gene expression dysregulation of Klotho, nuclear factor kappa B and tumor necrosis factor in temporal lobe epilepsy patients.

Background: Previous research in animal seizure models indicates that the pleiotropic cytokine TNF is an important effector/mediator of neuroinflammation and cell death. Recently, it has been demonstrated that TNF downregulates Klotho (KL) through the nuclear factor kappa B (NFkB) system in animal models of chronic kidney disease and colitis. KL function in the brain is unclear, although Klotho knockout (Kl-/-) mice exhibit neural degeneration and a reduction of hippocampal synapses.

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.

Deficiency of the enzyme P450 oxidoreductase is a rare form of congenital adrenal hyperplasia with characteristics of combined and partial impairments in steroidogenic enzyme activities, as P450 oxidoreductase transfers electrons to CYP21A2, CYP17A1, and CYP19A1. It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome. We report the case of a 9-year-old girl who was born with virilized genitalia (Prader stage V), absence of palpable gonads, 46,XX karyotype, and hypergonadotropic hypogonadism.

Quantitative changes in human epithelial cancers and osteogenesis imperfecta disease detected using nonlinear multicontrast microscopy.

We show that combined multimodal nonlinear optical (NLO) microscopies, including two-photon excitation fluorescence, second-harmonic generation (SHG), third harmonic generation, and fluorescence lifetime imaging microscopy (FLIM) can be used to detect morphological and metabolic changes associated with stroma and epithelial transformation during the progression of cancer and osteogenesis imperfecta (OI) disease. NLO microscopes provide complementary information about tissue microstructure, showing distinctive patterns for different types of human breast cancer, mucinous ovarian tumors, and skin dermis of patients with OI. Using a set of scoring methods (anisotropy, correlation, uniformity, entropy, and lifetime components), we found significant differences in the content, distribution and organization of collagen fibrils in the stroma of breast and ovary as well as in the dermis of skin.

Metabolic evaluation of young women with congenital adrenal hyperplasia.

Objective: To evaluate insulin resistance and lipid profile in women with congenital adrenal hyperplasia (CAH) caused by classical 21-hydroxylase deficiency (21OHD), and their association with body mass index (BMI) and corticosteroid dosage.

Subjects And Methods: We assessed BMI, waist circumference, current glucocorticoid dosage, glucose, insulin and lipid profile in eighteen young women (mean ± SD, 19.3 ± 3.

Turner syndrome and metabolic derangements: another example of fetal programming.

Background And Aim: Turner syndrome (TS) patients have an increased risk of weight gain and metabolic syndrome. To date, it is unknown what factors are involved in this metabolic process, even though it is recognized that TS patients are frequently born small-for-gestational age. The aim of this study was to evaluate the correlation between lipid and glucose profiles with being overweight and birth weight and length in TS patients.

Growth hormone effect on body composition in Turner syndrome.

This study analyzes the body composition of young adult women with Turner syndrome (TS) either treated or not treated with recombinant human growth hormone (rhGH) and compares them with a group of healthy women. Fifty-two non-treated TS patients (23.0 ± 5.

Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary cancer syndrome characterized mostly by parathyroid, enteropancreatic, and anterior pituitary tumors. We present a case of an 8-year-old boy referred because of hypoglycemic attacks. His diagnosis was pancreatic insulinoma.

Impairment in anthropometric parameters and body composition in females with classical 21-hydroxylase deficiency.

The aim of this study was to evaluate the physical measurements and body composition of female patients with the classic form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Twenty-eight girls with CAH were classified according to both hormonal control (well or not well controlled) and the clinical form of the disease (simple virilizing or salt-wasting). In the control group, 112 healthy individuals were included, divided into two subgroups (male and female).

Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

Mutations in the vitamin D receptor (VDR) are associated to the hereditary 1,25-dihydroxivitamin D-resistant rickets. The objectives of this work are: search for mutations in the VDR and analyze their functional consequences in four Brazilian children presented with rickets and alopecia. The coding region of the VDR was amplified by PCR e direct sequenced.

Absence of mutations in Pax6 gene in three cases of morning glory syndrome associated with isolated growth hormone deficiency.

Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system.

The calcium-sensing receptor and related diseases.

The calcium-sensing receptor (CASR) adjusts the extracellular calcium set point regulating PTH secretion and renal calcium excretion. The receptor is expressed in several tissues and is also involved in other cellular functions such as proliferation, differentiation and other hormonal secretion. High extracellular calcium levels activate the receptor resulting in modulation of several signaling pathways depending on the target tissues.

CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.

Familial hypocalciuric hypercalcemia (FHH) is caused by heterozygous loss-of-function mutations in the calcium-sensing receptor (CASR), in which the lifelong hypercalcemia is generally asymptomatic. Homozygous loss-of-function CASR mutations manifest as neonatal severe hyperparathyroidism (NSHPT), a rare disorder characterized by extreme hypercalcemia and the bony changes of hyperparathyroidism, which occur in infancy. Activating mutations in the CASR gene have been identified in several families with autosomal dominant hypocalcemia (ADH), autosomal dominant hypoparathyroidism, or hypocalcemic hypercalciuria.