muscular dystrophies/diarré

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An unusual association: celiac disease and Becker muscular dystrophy.

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A history of poor growth in early childhood associated with persistent diarrhea and iron deficiency anemia led to a diagnosis of celiac disease in a 9-yr-old boy hospitalized for acute rhabdomyolysis. Elevated serum creatine kinase levels had been documented over the previous years, and Becker's

Patient-centered benefit-risk assessment in duchenne muscular dystrophy.

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This study quantified caregiver and patient preferences for a therapeutic agent with demonstrated pulmonary benefits for Duchenne muscular dystrophy (DMD). Caregiver and patient differences were also explored. A best-worst scaling survey (BWS) was administered to caregivers and patients. Across 9

Bacterial overgrowth syndrome in myotonic muscular dystrophy is potentially treatable.

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Over one third of patients with myotonic muscular dystrophy type 1 (DM1) have gastrointestinal complaints. The cause is multifactorial, and treatment options are limited. Twenty DM1 patients with gastrointestinal symptoms were screened over a 2-year period using glucose breath hydrogen testing

[Electrolyte abnormalities and metabolic acidosis in two Duchenne muscular dystrophy patients with advanced congestive heart failure].

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We experienced two Duchenne muscular dystrophy patients with advanced congestive heart failure, who showed abrupt severe hyponatremia, hyperkalemia and metabolic acidosis. Two patients received respiratory management, parenteral nutrition, and drugs including angiotensin converting enzyme inhibitors

The effect of e-, i-, and n-nitric oxide synthase inhibition on colonic motility in normal and muscular dystrophy (mdx) mice.

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To explore the origin of diarrhea or constipation in human Duchenne muscular dystrophy (DMD), the effect of the inhibition of e- , i-, and n-nitric oxide synthase (NOS) on the motility of proximal and distal segments of colon of muscular dystrophy (mdx) and control mice was studied. The frequency of

Phase 1 Study of Edasalonexent (CAT-1004), an Oral NF-κB Inhibitor, in Pediatric Patients with Duchenne Muscular Dystrophy.

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BACKGROUND Edasalonexent is an orally administered small molecule designed to inhibit NF-κB, which is activated from infancy in Duchenne muscular dystrophy and is central to causing muscle damage and preventing muscle regeneration. OBJECTIVE Evaluate the safety, tolerability, pharmacokinetics and

A Novel NF-κB Inhibitor, Edasalonexent (CAT-1004), in Development as a Disease-Modifying Treatment for Patients With Duchenne Muscular Dystrophy: Phase 1 Safety, Pharmacokinetics, and Pharmacodynamics in Adult Subjects.

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In Duchenne muscular dystrophy (DMD), NF-κB is activated in skeletal muscle from infancy regardless of the underlying dystrophin mutation and drives inflammation and muscle degeneration while inhibiting muscle regeneration. Edasalonexent (CAT-1004) is a bifunctional orally administered small

[Renal dysfunction is a frequent complication in patients with advanced stage of Duchenne muscular dystrophy].

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Mechanical ventilation and cardioprotective therapy have significantly improved the prognosis and quality of life of patients with Duchenne muscular dystrophy (DMD). The incidence of congestive heart failure is on declining trend by meticulous care. Meanwhile, elongation of decreased cardiac

Relationship between Eating and Digestive Symptoms and Respiratory Function in Advanced Duchenne Muscular Dystrophy Patients.

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Duchenne muscular dystrophy (DMD) patients can have various issues that affect their quality of life, including eating and digestive conditions.We sought to identify the relationship between respiratory function and various eating and digestion related

Fecal Transplant for Treatment of Toxic Megacolon Associated With Clostridium Difficile Colitis in a Patient With Duchenne Muscular Dystrophy.

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Clostridium difficile (C diff) colitis infection is the most common cause of nosocomial infectious diarrhea and the prevalence is increasing worldwide. Toxic megacolon is a severe complication of C diff colitis associated with high mortality. Gastrointestinal (GI) comorbidity and impaired smooth

Glutamine supplementation in sick children: is it beneficial?

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The purpose of this review is to provide a critical appraisal of the literature on Glutamine (Gln) supplementation in various conditions or illnesses that affect children, from neonates to adolescents. First, a general overview of the proposed mechanisms for the beneficial effects of Gln is

Survey of current enteral nutrition practices in treatment of amyotrophic lateral sclerosis.

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OBJECTIVE Enteral nutrition (EN) is commonly prescribed for dysphagia and weight loss in amyotrophic lateral sclerosis (ALS), but there are currently no ALS-specific EN guidelines. We aimed to survey current practices prescribing EN to ALS patients. METHODS An online survey was distributed using

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