Similar disease progression in nonsense Duchenne muscular dystrophy boys as general natural history: Single Brazilian center 15 years registry view.

Duchenne muscular dystrophy is a progressive and fatal X-linked neuromuscular disease. Emergent disease-modifying therapy (DMT) in nonsense Duchenne muscular dystrophy (nmDMD) has brought new perspectives to slow down functional decline in this fatal disease. To investigate if there are differences in natural history between nmDMD and other genotypes, we described a retrospective cohort analysis of 25 nonsense mutation DMD (nmDMD) boys without disease-modifying therapy, aged between 1 and 22 years, over the last 15 years (2007-2022) in a single neuromuscular center in Rio de Janeiro and use published data on DMD natural history for comparison.

Why should a 5q spinal muscular atrophy neonatal screening program be started?

Spinal muscular atrophy (SMA) is a genetic neuromuscular progressive disorder that is currently treatable. The sooner the disease-modifying therapies are started, the better the prognosis. Newborn screening for SMA, which is already performed in many countries, has been scheduled to begin in the near future.

Cluster Analysis in Victims of Perceived Cyberbullying at the Higher Education Level.

A number of studies have demonstrated the prevalence of cyberbullying in university settings. The objective of this research is to conduct a cluster analysis to categorize victims according to the nature of the behavior they have received and to examine the relationship between gender and intention to drop out. To this end, the Online Victimization Questionnaire was administered to a sample of 800 first-year students at a university in northern Spain who had opted to participate in the study.

Development and internal validation of a clinical score to predict neonatal hypoglycaemia in women with gestational diabetes.

Introduction: Gestational diabetes (GD) is a risk factor for neonatal hypoglycaemia (NH), but other factors can increase this risk.

Objectives: To create a score to predict NH in women with GD.

Methods: Retrospective study of women with GD with a live singleton birth between 2012 and 2017 from the Portuguese GD registry.

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.

Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the . SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the gene or adding a copy of the gene through gene therapy, providing a drastic change in the natural history of the disease.

Comprehensive look at rectal squamous cell carcinoma.

Rectal squamous cell carcinoma (rSCC) is a rare cancer (0.5% of all rectal cancers). It typically presents at an advanced stage and has a poor prognosis.

Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: A case series.

Background And Purpose: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder affecting particularly the nervous tissue and adrenal cortex. Adrenomyeloneuropathy (AMN) is the most frequent phenotype, although adrenal insufficiency is usually the first manifestation in male patients. We set out to describe the clinical and biochemical features, together with the clinical course of X-ALD patients, focusing particularly on endocrine dysfunction.

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.

In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication.

Grateful Workers, Satisfied Workers? A Portuguese Study about Organizational Happiness during COVID-19 Quarantine.

Although work satisfaction has been largely studied, gratitude is an emerging field within multiple sciences, including positive psychology, organizational behavior, and human resources marketing. This ex post facto study aims to characterize gratitude and understand its relations to job satisfaction in a non-probabilistic sample of 521 Portuguese workers (62.2% women), 30.

Best Supportive Care of the Patient with Oesophageal Cancer.

Background: Oesophageal cancer patients have poor survival, and most are unfit for curative or systemic palliative treatment. This article aims to review the best supportive care for oesophageal cancer, focusing on the management of its most frequent or distinctive symptoms and complications.

Methods: Evidence-based review on palliative supportive care of oesophageal cancer, based on Pubmed search for relevant clinical practice guidelines, reviews and original articles, with additional records collected from related articles suggestions, references and societies recommendations.

How to fairly allocate scarce medical resources? Controversial preferences of healthcare professionals with different personal characteristics.

The scarcity of medical resources is widely recognized, and therefore priority setting is inevitable. This study examines whether Portuguese healthcare professionals (physicians vs nurses): (i) share the moral guidance proposed by ethicists and (ii) attitudes toward prioritization criteria vary among individual and professional characteristics. A sample of 254 healthcare professionals were confronted with hypothetical prioritization scenarios involving two patients distinguished by personal or health characteristics.

Advanced Adrenocortical Carcinoma: Current Perspectives on Medical Treatment.

Adrenocortical carcinoma (ACC) is a rare and aggressive malignancy. For stage I and II tumors, surgery is a curative option, but even in these cases recurrence is frequent. Practical guidelines advocate a combination of mitotane with etoposide, doxorubicin, and cisplatin as first-line therapy for metastatic adrenocortical carcinoma.

Multifactorial diabetes insipidus during pregnancy: a challenging diagnosis.

Diabetes insipidus (DI) is characterised by thirst and polydipsia with hypotonic polyuria. Several forms exist, namely, central or pituitary, nephrogenic and gestational and must be differentiated for adequate treatment. We describe the case of a 41-year-old woman chronically infected with HIV who had been recently medicated with a tenofovir-based antiretroviral treatment and who, at 22 weeks of pregnancy, presented with transient gestational DI.

Abusive Sexting in Adolescence: Prevalence and Characteristics of Abusers and Victims.

Sexting has been defined as sending, receiving, or forwarding sexually explicit messages, images, or photos to others through digital platforms, and can assume more consensual or more abusive and violent forms. This study aims to explore the prevalence of abusive sexting in Portuguese adolescents and the psychological characteristics of sexting abusers in terms of emotional and behavioral problems, potential markers of psychopathy, childhood trauma and maltreatment, and different forms of aggression. A cross-sectional study was conducted with 4,281 participants, aged 12-20 years (2,264 girls and 2,017 boys), of whom 204 (4.

Thyroid tuberculosis: an unexpected diagnosis.

(MTB) is an aerobic bacillus responsible for tuberculous infection. The the thyroid gland being affected by MTB is a rare condition. A 71-year-old woman had 6 months of slight cervical discomfort.

Complications and Sequelae in Patients With Congenital Microcephaly Associated With Zika Virus Infection: Two-Year Follow-Up.

Background: We aim to describe the long term follow-up of a cohort of children exposed in utero to the Zika virus.

Methods: Descriptive study of a cohort of microcephalic children due to Zika virus. Logistic regression was used to evaluate variables associated with worse prognosis epilepsy.

Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?

Objective: Duchenne muscular dystrophy, an X-linked genetic disease, leads to progressive muscle weakness mainly in the lower limbs. Motor function tests help to monitor disease progression. Can low-cost, simple assessments help in the diagnostic suspicion of Duchenne muscular dystrophy? The authors aim to define the sensitivity of time to rise from the floor, time to walk 10meters, and time to run 10meters, evaluating them as eventual diagnostic screening tools.

Early identification of first-year students at risk of dropping out of high-school entry medical school: the usefulness of teachers' ratings of class participation.

Dropping out from undergraduate medical education is costly for students, medical schools, and society in general. Therefore, the early identification of potential dropout students is important. The contribution of personal features to dropout rates has merited exploration.

Allgrove syndrome and motor neuron disease.

Allgrove or triple A syndrome (AS or AAA) is a rare autosomal recessive syndrome with variable phenotype due to mutations in gene which encodes a protein called ALADIN. Generally, it's characterized by of adrenal insufficiency in consequence of adrenocorticotropic hormone (ACTH) resistance, besides of achalasia, and alacrimia. Neurologic features are varied and have been the subject of several case reports and reviews.

Brazilian consensus on Duchenne muscular dystrophy. Part 2: rehabilitation and systemic care.

Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) have occurred since the publication of international guidelines for DMD care in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care of DMD in Brazil. A combination of the Delphi technique with a systematic review of studies from 2010 to 2016 was employed to classify evidence levels and grade of recommendations for the guideline.