Two sibs affected by the severe neonatal form of spinal muscular atrophy (SMA) with diaphragmatic paralysis are described. The two sibs were discordant for the haplotypes determined by DNA markers flanking the SMA locus. This supports non-linkage of SMA to chromosome 5 in this family and indicates that the uncommon SMA type I variant associated with early onset respiratory failure maps outside ...

Emery-Dreifuss muscular dystrophy has some remarkably specific features, with only cardiac and skeletal tissues being affected. Equally remarkably, the disease is caused by mutations in widely expressed genes for the nuclear membrane/lamina proteins, emerin and lamin A/C. How do mutations in proteins at the heart of the cell lead to stiff joints and sudden heart failure? This and related questi...

Received 24 December 2010 Revised 24 January 2011 Accepted 25 January 2011 Early online 27 January 2011 Print 31 January 2011 Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) is a relentlessly progressive neurological disorder causing peripheral muscular weakness and resultant respiratory failure. In this article, we report a case of ALS with chronic obstructive pul...

Between 1990 and 1993, we studied 14 cases of acute renal failure due to prolonged muscular exercise (e.g., squat jumping, sit-ups) and blunt trauma inflicted by law enforcement personnel using sticks or leather belts. None of the patients had a prior history of myopathy, neuropathy, or renal disease. All were critically ill and required renal support in the form of dialysis. Although the morbi...

Dyspnea has many characteristics, differing from one clinical state to another. In pulmonary diseases the immediate cause is usually a disproportion between actual ventilation (breathing requirement) and breathing capacity. The hyperventilation of organic pulmonary disease is often mistakenly diagnosed as psychoneurosis. In early cardiac dyspnea, muscular fatigue associated with inadequate card...

EDITORIAL SYNOPSIS The causes of obstruction in 100 cases diagnosed clinically as 'pyloric stenosis' showed that the majority of cases were duodenal ulcer stenosis, with prepyloric carcinoma as second in frequency. In the earlier stages the obstruction is overcome by hyperactivity of the gastric muscle but later on muscular failure occurs with gastric atony and retention of food. This is revers...

Anchor points in the Colles’ fascia elongated 17.4% further prior to failure than those in the periosteum.There was noticable variability between anchor points and across samples. The histologic sections suggest that Colles’ fascia from the different regions of the ischiopubic ramus vary considerably both in continuity and collagen fiber content. The periosteal and muscular fascial layers were ...

Thiamine deficiency may present four classic clinical forms: peripheral polyneuropathy, anorexia and muscular weakness (dry beriberi); high output heart failure with signs of congestion (wet beriberi); beriberi associated with shock (Shoshin beriberi) and Wernicke's encephalopathy. In this report we describe a picture that is suggestive of severe pulmonary hypertension and cor pulmonale, with j...

Diaphragm eventration is partial or complete elevation of the diaphragm as a result of failure of muscular development. While diaphragm eventration has no symptoms in some cases, it may also cause life threatening problems. Thoracic ectopic kidney is a rare anomaly and usually does not produce symptoms. A 4-month-old male patient who has diaphragm eventration with left ectopic thoracic kidney w...

This study examined the effect of a novel circuit weight training (CWT) program on cardiorespiratory fitness, muscular strength, and body composition in 13 patients with chronic heart failure (CHF), using a prospective randomized crossover protocol. Peak exercise oxygen uptake (VO(2 peak)) increased after the 8-wk CWT program (19. 5 +/- 1.2 vs. 22.0 +/- 1.5 ml. kg(-1). min(-1), P < 0.01), as di...