Sleep Disorders and Subjective Well-Being in Portuguese Adults: Evidence from a Representative Study.

 The quality and quantity of sleep affect people's well-being, as chronic sleep disorders are associated with social, physical, and psychological problems, as well as low self-reported life satisfaction. The present cross-sectional study examined the associations of sleep disorders with self-reported life satisfaction in Portuguese adults.  Data from a representative sample of the Portuguese population (14,341 participants, aged ≥ 18 years) extracted from the Sixth Portuguese National Health Survey was analyzed.

Material Extrusion to Manufacture Carbide-Based Advanced Cutting Tools.

Material extrusion (MEX) allows for the production of advanced cutting tools with new internal cooling systems, which are suitable for new machining equipment. To produce cutting tools via this process, hardmetal and cermet feedstock must be prepared for the extrusion of 3D printing filaments. After shaping the 3D object (green), debinding and sintering must be performed to achieve densification.

Content validation of a questionnaire to assess the knowledge of pediatricians, family, and community physicians on obesity.

Objective: The aim of this study was to validate the content of a questionnaire in order to assess the attitudes and practices in childcare consultations, knowledge on overweight and obesity, their risk factors, and barriers in addressing the issue by pediatricians and family physicians.

Methods: The Delphi technique was used, with the objective of reaching a consensus on a certain subject, through experts' opinions. The content validity index (CVI) of each item, axis, and questionnaire was calculated.

Paracetamol Allergy: A Case of a 9-Year-Old Female with a History of Atopy.

We describe a rare case involving paracetamol, a commonly used drug worldwide. Increased paracetamol consumption increases the risk of adverse drug reactions. This is a case of a 9-year-old girl who visited the emergency department due to sudden onset sneezing, nasal itching, urticaria, and angioedema after paracetamol ingestion.

Type 1 diabetes does not impair the physical capacity of non-sedentary adolescents.

Background: Type 1 diabetes patients have a higher risk of developing hypoglycemia or hyperglycemia during physical activity, which may compromise their safety during exercise but results regarding the exercise capacity of patients with type 1 DM when compared to control subjects have been contradictory.

Aim: To evaluate if type 1 diabetes affects the capacity of adolescents to exercise.

Methods: The study enrolled 37 adolescents in stage 2-4 of the Tanner scale, aged from 10 to 14 years, 21 with type 1 diabetes and 16 without any chronic diseases.

Distance Education Course about Sexuality for Obstetrics and Gynecology Residents.

 To describe the experience of a distance education course on sexual issues during pregnancy and after birth for residents.  This prospective educational intervention study was conducted by investigators from the Universidade Federal de São Paulo, Brazil, between April and September 2014. The participants were 219 physicians (residents from the 1st to the 6th years).

Experience of an online course on sexuality during pregnancy for residents.

Objective: Many obstetrics and gynecology (Ob/Gyn) residents report insufficient knowledge about female sexuality and this has a negative impact on their capacity to manage their patients. The aim of this study was to describe an online course about sexuality during pregnancy for Brazilian Ob/Gyn residents and evaluate their knowledge acquisition.

Methods: This longitudinal educational intervention study involved 219 Brazilian Ob/Gyn residents.

Cross-reactive LTP sensitization in food-dependent exercise-induced urticaria/anaphylaxis: a pilot study of a component-resolved and in vitro depletion approach.

Background: Challenge tests for food-dependent exercise-induced anaphylaxis (FDEIA) carry some risk and have a high rate of false negatives. Our aim was to explore the usefulness of an in vitro immunodepletion assay and an allergen microarray test in the identification of IgE-mediated cross-reactive food allergens in patients with suspected FDEIA or food-dependent exercise-induced urticaria and panallergen sensitization.

Methods: Three patients with a history of food dependent exercise induced urticaria/anaphylaxis and food panallergen sensitization in whom a food-exercise challenge was not feasible were selected: a 25-year-old man with cholinergic urticaria who experienced generalized urticaria and angioedema during a soccer match after drinking a peach-based soft drink; a 19-year-old woman with allergic rhinitis and controlled asthma who experienced anaphylactic shock while playing soccer, having eaten walnuts in the previous 90 min; and a 57-year-old man with baker's asthma who experienced four episodes of anaphylaxis during exercise after ingesting wheat-containing food.

Dealing with female sexuality: training, attitude, and practice of obstetrics and gynecology residents from a developing country.

Introduction: There is little research on how obstetrics and gynecology (Ob/Gyn) residents deal with female sexuality, especially during pregnancy.

Aim: The aim of this study was to assess the training, attitude, and practice of Ob/Gyn residents about sexuality.

Methods: A cross-sectional survey of Brazilian Ob/Gyn residents enrolling in an online sexology course was conducted.

[Endovascular management of an infectious and ruptured abdominal aortic aneurysm. Clinical report].

Infectious aneurysms are about 1-3% of all aneurysms of the infrarenal aorta. Its treatment is challenging and the best strategy is far from consensual. The authors report a case of a HIV + patient with multiple other co-morbidities, which was seen in the emergency department with fever and left back pain.

[Complications of vascular access for hemodialysis - limits, imagination and commitment].

Terminal chronic kidney disease courses with high mortality and is a serious public health problem on a global scale. In Portugal, it involves about 14,000 patients of whom 5,000 are transplanted. The remaining require permanent renal replacement techniques.

Brazilian residents' attitude and practice toward sexual health issues in pregnant patients.

Introduction: Sexual difficulties and questions regarding sexual function are frequent in pregnancy, yet they are infrequently discussed in academic communities, medical schools, and residency programs. Embarrassment, lack of experience, inadequate communication skills and insufficient knowledge on how to deal with sexual complaints, and questions in pregnancy are common, especially among young health professionals.

Aim: The aim of this study was to assess and compare the attitude and behavior of Brazilian residents in three different medical programs (obstetrics-gynecology, internal medicine, and psychiatry) toward sexual health issues of pregnant patients.

[Some reflections on the Klippel Trenaunay syndrome: A single entity or an association of vascular malformations].

The author started in the year 2000, in the St Marta Hospital, a consultation for congenital vascular malformations, that was extrapolated to the Pulido Valente Hospital - CHLN where he continues to see multiple patients with this type of pathology, mainly located to the extremities.The Klippel Trenaunay syndrome, which was described as a set of anomalies constituted by the presence of a cutaneous angiomatous malformation ( port wine stain ), varicose veins and gigantism of the limbs, is undoubtedly the most common malformations that he is asked to treat. So he thought that it would be interesting to undertake an actual review of this pathology.

Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected.

Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare form of bilateral adrenocortical hyperplasia that is inherited in an autosomal dominant manner and leads to ACTH-independent Cushing's syndrome (CS). PPNAD may be isolated or associated with Carney Complex (CNC). For the diagnosis of PPNAD and CNC, in addition to the hormonal and imaging tests, searching for PRKAR1A mutations may be recommended.

Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation.

Congenital hyperinsulinism of infancy (CHI) is the most common cause of hypoglycemia in newborns and infants. Several molecular mechanisms are involved in the development of CHI, but the most common genetic defects are inactivating mutations of the ABCC8 or KCNJ11 genes. The classical treatment for CHI has been pancreatectomy that eventually leads to diabetes.

[Cubital artery aneurysm and hypothenar hammer syndrome. Report of an unusual case].

Hypothenar hammer syndrome (HHS) is a rare condition and is a term used to described an aneurysm or thrombosis of the ulnar artery. It is considered an occupational or recreational injury and usually results of repetitive trauma to the hypothenar region, where th unique anatomy after the artery leaves the Guyon canal, allows the arterial injury. Clinical manifestations are more often unilateral, involving the dominant hand.

Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.

Unlabelled: Combined Pituitary Hormone Deficiency (CPHD) is a prevalent disease in Neuroendocrinology services. The genetic form of CPHD may originate from mutations in pituitary transcription factor (PTF) genes and the pituitary image in these cases may give a clue of what PTF is most probably mutated: defects in LHX4 are usually associated with ectopic posterior pituitary (EPP); defects in LHX3, PIT1, and PROP1, with normally placed posterior pituitary (NPPP); HESX1 mutations are associated with both.

Objective: To identify mutations in PTF genes in patients with idiopathic hypopituitarism followed in our service, based on the presence or absence of EPP on sellar MRI.

Central precocious puberty associated with pituitary duplication and midline defects.

Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. It may be idiopathic or result from congenital or acquired CNS lesions. We describe a 7.

The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.

Background: Combined pituitary hormone deficiency (CPHD) corresponds to impaired production of growth hormone (GH) and other anterior pituitary hormones. The genetic form of CPHD may result from mutations in pituitary transcription factor genes, and PROP1 is the most commonly mutated gene in these cases. Patients with PROP1 mutations may have variable CPHD phenotypes but, because they are usually treated in childhood, the wide phenotypic variability caused by these mutations may not be thoroughly appreciated.

Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review.

Kallmann syndrome (KS) describes the association of isolated hypogonadotropic hypogonadism with hypo/anosmia. A few KS patients may reverse hypogonadism after testosterone withdrawal, a variant known as reversible KS. Herein, we describe the first mutation in KAL1 in a patient with reversible KS and review the literature.

Waxing and waning of a pituitary mass in a young woman with combined pituitary hormone deficiency (CPHD) due to a PROP-1 mutation.

We describe a 23-yr old woman with congenital combined pituitary hormone deficiency (CPHD) diagnosed at 10 years of age and a large sellar mass discovered at the age of 19 years, when her first pituitary MRI was performed. The mass (height: 13 mm) extended to the suprasellar region, close to the optic chiasm, showed signal hyperintensity in T1- and hypointensity in T2-weighted images, with no enhancement after gadolinium injection. Although these MRI features were suggestive of Rathke's cleft cyst, cystic craniopharyngioma or previous hemorrhage, no visual symptoms, diabetes insipidus and/or hyperprolactinemia were present.

[Glycoprotein-secreting pituitary adenomas: pathogenesis, diagnosis and treatment].

The glycoprotein-secreting pituitary adenomas comprise two distinctive clinical and pathological entities, the gonadotroph and the thyrotroph cell pituitary adenomas. Although they can be grouped together for producing hormones and/or subunits that are glycoproteins, these tumors originate from distinctive cell types (gonadotrophes and thyrotrophes) that are only remotely related. Gonadotroph cell adenomas are among the commonest types of pituitary adenomas, corresponding to the majority of the so-called "nonfunctioning" or clinically silent adenomas, while thyrotroph cell adenomas are extremely rare and usually present with hyperthyroidism due to inappropriate TSH secretion.

A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.

Objective: The anion exchanger gene (AE1) or band 3 encodes a chloride-bicarbonate (Cl(-)/HCO(3)(-)) exchanger expressed in the erythrocyte and in the renal alpha-intercalated cells involved in urine acidification. The purpose of the present study was to screen for mutations in the AE1 gene in 2 brothers (10 and 15 years of age) with familial distal renal tubular acidosis (dRTA), nephrocalcinosis, and failure to thrive.

Methods: AE1 mutations were screened by single-strand conformation polymorphism, cloning, and sequencing.

Hereditary corticosteroid-binding globulin deficiency due to a missense mutation (Asp367Asn, CBG Lyon) in a Brazilian kindred.

Objective: Abnormal corticosteroid-binding globulin (CBG) is an extremely rare condition and only three mutations have been described in four families. The molecular basis of an abnormal CBG in a Brazilian family was studied and correlations between genotype and serum cortisol, cortisol binding capacity (CBC) and CBG levels were determined.

Subjects: All 10 family members, comprising three generations, and nine healthy volunteers were studied.