Neurocognitive profiles in Duchenne muscular dystrophy and gene mutation site

The presence of nonprogressive cognitive impairment is recognized as a common feature in a substantial proportion of patients with Duchenne muscular dystrophy. To investigate the possible role of mutations along the dystrophin gene affecting different brain dystrophin isoforms and specific cognitive profiles, 42 school-age children affected with Duchenne muscular dystrophy, subdivided according to sites of mutations along the dystrophin gene, underwent a battery of tests tapping a wide range of intellectual, linguistic, and neuropsychologic functions. Full-scale intelligence quotient was approximately 1 S.D. below the population average in the whole group of dystrophic children. Patients with Duchenne muscular dystrophy and mutations located in the distal portion of the dystrophin gene (involving the 140-kDa brain protein isoform, called Dp140) were generally more severely affected and expressed different patterns of strengths and impairments, compared with patients with Duchenne muscular dystrophy and mutations located in the proximal portion of the dystrophin gene (not involving Dp140). Patients with Duchenne muscular dystrophy and distal mutations demonstrated specific impairments in visuospatial functions and visual memory (which seemed intact in proximally mutated patients) and greater impairment in syntactic processing.     

Prevalence and Severity of Sleep Apnea in a Group of Morbidly Obese Patients

Background Obesity is the most important risk factor for obstructive sleep apnea. It is estimated that 70% of sleep apnea patients are obese. In the morbidly obese, the prevalence may reach 80% in men and 50% in women. The aim of this study was to determine the prevalence and severity of sleep apnea in a group of morbidly obese patients, leading to bariatric surgery. Methods In a cross-sectional study developed in Bahia, northeastern Brazil. 108 patients (78 women and 30 men) from the Obesity Treatment and Surgery Center - “Núcleo de Tratamento e Cirurgia da Obesidade” underwent standard polysomnography. Patients with an apnea-hypopnea index (AHI) ≥ 5 events/hour were considered apneic. Results Mean ± SD for age and BMI were 37.1 ± 10.2 years and 45.2 ± 5.4 kg/m2, respectively. The calculated AHI ranged widely from 2.5 to 128.9 events/hour. Sleep apnea was detected in 93.6% of the sample, wherein 35.2% had mild, 30.6% moderate and 27.8% severe apnea. Oxyhemoglobin desaturation was directly related to the AHI and was more severe in men. Conclusion There was a high frequency of sleep apnea in this group of morbidly obese patients, for whom it was very important to request polysomnography, thus enabling therapeutic management and prognostication.     

Early psychosis in Indonesia: reflections on illness and treatment

Abstract

This paper provides an overview of more than 22?years of research conducted in the central Javanese province of Yogyakarta, Indonesia, by teams of researchers associated with Gadjah Mada University and Harvard University, led by the authors of this essay. This work is placed in the context of the very limited literature on early psychosis and mental health services in Indonesia. It provides an overview of mental health services in Indonesia and of this team’s research trajectory, then addresses four key domains: the cultural phenomenology of early experiences of psychotic illness; patterns of onset, with a particular focus on extremely rapid onset psychoses; patterns of care-seeking for first episode illness; and mental health services and patterns of utilization. It then discusses the importance of rapid onset psychosis for research on early psychosis, and the question of whether collinearity of rapidity of onset and rapidity of care-seeking raises questions about the long-standing finding that a short duration of untreated psychosis leads to better outcomes. It concludes by discussing difficulties of prioritizing early intervention models in settings with very low mental health resources.     

Characterization and Management of Arrhythmic Events in Young Patients With Brugada Syndrome

Background

Information on young patients with Brugada syndrome (BrS) and arrhythmic events (AEs) is limited.

Antidepressants and nose-to-brain delivery: drivers,restraints, opportunities and challenges

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Intestinal Inflammation in Rats Induces Metallothionein in Colonic Submucosa

The aim of the current study was to determine if induction of metallothionein (MT) via acute or chronic dietary zinc supplementation attenuates intestinal inflammation, and to investigate the relationship with site-specific intestinal MT determined by immunolocalization. Growing rats were assigned to zinc-deficient (ZD), acute zinc-treated (ZT), pair-fed, control or chronic Zn-supplemented (ZS) groups. Half the rats in each dietary group received 5% dextran sulphate sodium (DSS) in their drinking water for 4 days. DSS treatment produced acute intestinal inflammation in the colon only, however, dietary zinc deficiency, acute zinc treatment or chronic zinc supplementation did not alter the severity of ulceration. Serum zinc concentrations were attenuated in the DSS-challenged ZT and ZS groups suggesting that zinc was being utilized in some capacity in response to inflammation. DSS-challenge induced MT immunostaining in the colonic submucosa, however, MT was not associated with histological improvements in the present study. The site-specific MT induction in colonic submucosa during intestinal inflammation requires further clarification as a component of the host defense.     

Ventricular remodeling in Loeffler endocarditis: implications for therapeutic decision making

BACKGROUND: Little is known about the morphological and functional evolution of ventricular abnormalities in Loeffler endocarditis. METHODS AND RESULTS: We describe 5 patients, including 3 with long-term echocardiographic follow-up, in whom apical obliteration due to fibro-thrombotic thickening of the endocardium showed favorable patterns of evolution. In one patient there was almost complete resolution of the obliterative process with consequently increased effective ventricular volume. In two patients formation of a flow-passage in the fibrocalcific apical 'floor' between the main medioventricular cavity and the apical chamber, leading to a 'double-chambered' left ventricle was observed. CONCLUSIONS: Medical therapy and appropriate anticoagulation, can induce favorable long-term ventricular remodeling in Loeffler endocarditis.