necdin (Ndn) is one of a cluster of genes deleted in the neurodevelopmental disorder Prader-Willi syndrome. necdin is upregulated during neuronal differentiation and is thought to play a role in cell cycle arrest in terminally differentiated neurons. Most necdin-deficient Ndn(tm2Stw) mutant pups carrying a targeted replacement of Ndn with a lacZ reporter gene die in the neonatal period of appar...

Two respiratory physiotherapy methods were evaluated by analyzing changes in the transcutaneous partial pressure of CO2 (tcPCO2) in 15 patients with respiratory insufficiency. All were receiving continuous oxygen therapy and had CO2 retention. The physiotherapy methods compared were thoracic compression (TC) and positive expiratory pressure (PEP). The mean decrease (+/- SD) in tcPCO2 was the sa...

Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular a...

A 17-year-old Japanese woman with rigid spine syndrome (RSS) presented with respiratory failure leading to CO2 narcosis. The clinical symptoms were drowsiness, asterixis and cardiac arrhythmias. Tracheostomy and temporary ventilatory support abolished these symptoms. However, polygraphic sleep studies without a ventilator revealed Cheyne-Stokes respiration and profound arterial oxygen desaturat...

Background: Patients with LAMA2-congenital muscular dystrophy (CMD) usually present a severe phenotype characterized by inability to achieve walking capacity, multiple joint deformities, and respiratory insufficiency. However, there is gravity spectrum, some patients can walk unassisted. Characteristically, the have white matter changes in T2-WI FLAIR brain magnetic resonance. More rarely, cort...

Patchefsky, A. S., Israel, H. L., Hoch, W. S., and Gordon, Gloria (1973). Thorax, 28, 680-693. Desquamative interstitial pneumonia: relationship to interstitial fibrosis. The clinical course and radiographic and pathological findings in 14 patients having the histological pattern of desquamative interstitial pneumonia (DIP) have been studied. Four deaths occurred from cardiorespiratory failure ...

Tricholoma equestre (hereinafter - T. equestre) is a common edible fungus that is considered to be toxic under certain conditions. Here, we report four cases of acute poisoning caused by T. equestre, including one lethal outcome in Lithuania between 2004 and 2013. In the severe case, fatigue, nausea without vomiting and muscle pain, profuse sweating without fever, and respiratory insufficiency ...