Height benefit of GnRH agonists after age 8 in a Portuguese cohort of central precocious puberty.

Objective: Idiopathic central precocious puberty (iCPP) is common in paediatric endocrinology. Gonadotropin-releasing hormone agonists (GnRHa) are safe, but the effect on final height and the ideal timing for treatment remains controversial. This study aims to assess the effectiveness of GnRHa on growth outcomes in girls with iCPP treated before and after the age of 8 years old.

Do GnRH Agonists Really Increase Body Weight Gain? Evaluation of a Multicentric Portuguese Cohort of Patients With Central Precocious Puberty.

Introduction: There are several concerns associated with gonadotropin-releasing hormone agonist (GnRHa) treatment for central precocious puberty (CPP), such as obesity and changes in body mass index (BMI). We aimed to investigate whether any anthropometric differences exist and if they persist over time.

Methods: We conducted an observational study of Portuguese children (both sexes) diagnosed with CPP between January 2000 and December 2017, using a digital platform, in order to analyze the influence of GnRHa treatment on BMI-SD score (BMI-SDS).

Image quality of compressive single-pixel imaging using different Hadamard orderings.

Single-pixel imaging is an imaging technique that has recently attracted a lot of attention from several areas. This paper presents a study on the influence of the Hadamard basis ordering on the image reconstruction quality, using simulation and experimental methods. During this work, five different orderings, Natural, Walsh, Cake-cutting, High Frequency and Random orders, along with two different reconstruction algorithms, TVAL3 and NESTA, were tested.

Urinary tract infection in patients with spinal cord injury after urodynamics under fosfomycin prophylaxis: a retrospective analysis.

Background: Urinary tract infection (UTI) is a common complication of spinal cord injury (SCI). Urodynamic testing is widely used for characterization of vesico-sphincteric dysfunction and for therapeutic orientation. As an invasive procedure, the risk of UTI is increased so, in some medical centers, antibiotic prophylaxis is instituted.

Congenital muscular torticollis: where are we today? A retrospective analysis at a tertiary hospital.

Background: The congenital muscular torticollis is characterized by a persistent lateral flexion of the head to the affected side and cervical rotation to the opposite side due to unilateral shortening of the sternocleidomastoid muscle. The majority of the cases resolve with conservative management, with parents/caregivers education and physical therapy.The aim of this study was to assess demographic and clinical characteristics, treatment options, and outcome, amongst infants referred to pediatric rehabilitation consultation due to congenital muscular torticollis.

Nonpharmacological interventions to improve quality of life in heart failure: an integrative review.

Objective:: to identify articles that assessed the effectiveness or efficacy of nonpharmacological interventions to improve quality of life of people with heart failure in the literature.

Method:: an integrative literature review was performed in Lilacs, MedLine and SciELO databases, including randomized or nonrandomized clinical trials and quasi-experimental studies published between 2003 and 2014, in Portuguese, English or Spanish.

Results:: twenty-three studies were included.

Septo-optic dysplasia: fitting the pieces together.

A 7-year-old boy was admitted for a general tonic-clonic seizure with severe hypoglycaemia (1.39 mmol/l). His medical history was remarkable for a congenital left eye strabismus, unilateral cryptorchidism and three previous episodes of hypoglycaemic seizures with inconclusive metabolical and neurological investigations.

Berardinelli-Seip syndrome: highlight of treatment challenge.

Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare autosomal-recessive disease characterised by lipoatrophy and associated with deregulations of glycidic and lipid metabolism. We report three BSCL cases with its typical clinical picture and complications. Clinically, they all show marked atrophy of adipose tissue, acromegaly, acanthosis nigricans and tall stature.

[Turner syndrome. From child to adult... A multidisciplinary approach].

Turner syndrome is one of the most frequent chromosome disorders in clinical practice. It is characterized by a multisystemic involvement, responsible for a high morbidity and an increased mortality at all ages. Therefore it is essential that there is a continuous and integrated approach in reference centers to improve the quality of life and prevent early mortality.

Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.

Context: Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome, is a rare autosomal recessive disease caused by mutations in either the BSCL2 or AGPAT2 genes. This syndrome is characterized by an almost complete loss of adipose tissue usually diagnosed at birth or early infancy resulting in apparent muscle hypertrophy. Common clinical features are acanthosis nigricans, hepatomegaly with or without splenomegaly and high stature.

Insulin resistance in adolescents with Down syndrome: a cross-sectional study.

Background: The prevalence of diabetes mellitus is higher in individuals with Down syndrome (DS) than in the general population; it may be due to the high prevalence of obesity presented by many of them. The aim of this study was to evaluate the insulin resistance (IR) using the HOMA (Homeostasis Model Assessment) method, in DS adolescents, describing it according to the sex, body mass index (BMI) and pubertal development.

Methods: 15 adolescents with DS (8 males and 7 females) were studied, aged 10 to 18 years, without history of disease or use of medication that could change the suggested laboratory evaluation.