Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE)

We report 3 new cases of Mitochondrial-Neuro-Gastro-Intestinal Encephalomyopathy (MNGIE) (or Pseudo-Obstruction-Leukoencephalopathy-Intestinal-Pseudoobstruction Syndrome [POLIP]), a rare disease that associates chronic intestinal pseudo-obstruction (CIPO) and neurological symptoms. A review of the 72 reported cases together with these 3 cases revealed that this condition was associated with (a) a specific cluster of neurological symptoms including leukoencephalopathy (96%), polyneuropathy (96%), ophthalmoplegia (91%) and hearing loss (55%); (b) a CIPO syndrome with the presence of small bowel diverticulae (53%); and (c) mitochondrial cytopathy in 36 of the 37 tested patients (2 of our 3 cases), and thymidine phosphorylase gene mutations in all the 37 tested patients (2 of our cases). The etiology of POLIP/MNGIE syndrome appears therefore to be due to a mitochondrial cytopathy secondary to thymidine phosphorylase gene mutation(s). In 3 cases, including 2 of our 3 patients, mitochondrial abnormalities were evidenced at the ultrastructural level in digestive smooth muscle demonstrating that the pathogenesis of gastrointestinal involvement was directly related to mitochondrial alterations in digestive smooth muscle cells.     

Intra-left ventricular electromechanical asynchrony. A new independent predictor of severe cardiac events in heart failure patients

OBJECTIVES: We sought to assess the electromechanical parameters, using tissue Doppler echocardiography, as potential independent predictors of heart failure (HF) worsening. BACKGROUND: Ventricular conduction disorders worsen the prognosis for HF patients. However, the relationships between the QRS width and morphology, hemodynamic parameters, and presence and magnitude of intra-left ventricular (LV) and inter-ventricular (V) asynchrony have not been well clarified. METHOD: A total of 104 patients with an LV ejection fraction (EF) 相似文献   

A non-fatal Nerium oleander self-poisoning: case report and discussion

Nerium oleander is potentially lethal plants after ingestion. We report a case of poisoning by these plants. Our patient complained of nausea, vomiting, and diarrhoea. He had bradycardia during first twelve hours. He was discharge after 3 days. All parts of these plants are toxic and contain a variety of cardiac glycosides including oleandrin. In most cases, clinical management of poisoning by N. oleander involves administration of activated charcoal and supportive care. Digoxin specific Fab fragments are an effective treatment.