نتایج جستجو برای: congenital myopathy
تعداد نتایج: 131548 فیلتر نتایج به سال:
X-linked myotubular myopathy (McKusick no. 31040) is a congenital myopathy in which affected male subjects typically present with severe hypotonia and respiratory distress at birth. Surviving patients have prolonged ventilator dependence and grossly delayed motor milestones but usually have intact intelligence.1-3 However, the long-term prognosis as reported in the literature is generally poor,...
We report a case of X-linked myotubular myopathy with chylothorax. A male infant weighing 2,114 g was born to a mother whose pregnancy was complicated with polyhydramnios from gestational week 32. At gestational week 37, emergent caesarian section was performed due to membrane rupture followed by fetal bradycardia. Ventilatory support was necessary because the neonate showed severe birth asphyx...
P-5 Search for mutations in the RYR1 gene in Italian patients with congenital myopathy D. Cassandrini, R. Trovato, M. Pane, A. D’Amico, G. Comi, R. Battini, C. Fiorillo, F.M. Santorelli, C. Minetti, C. Bruno; and the Italian Network for Congenital Myopathies IRCCS “Stella Maris”, Pisa, Italy; 1 Policlinico Gemelli, Rome, Italy; 2 IRCCS “Bambin Gesù”, Roma, Italy; 3 Policlinico Maggiore, Milano,...
P-5 Search for mutations in the RYR1 gene in Italian patients with congenital myopathy D. Cassandrini, R. Trovato, M. Pane, A. D’Amico, G. Comi, R. Battini, C. Fiorillo, F.M. Santorelli, C. Minetti, C. Bruno; and the Italian Network for Congenital Myopathies IRCCS “Stella Maris”, Pisa, Italy; 1 Policlinico Gemelli, Rome, Italy; 2 IRCCS “Bambin Gesù”, Roma, Italy; 3 Policlinico Maggiore, Milano,...
P-5 Search for mutations in the RYR1 gene in Italian patients with congenital myopathy D. Cassandrini, R. Trovato, M. Pane, A. D’Amico, G. Comi, R. Battini, C. Fiorillo, F.M. Santorelli, C. Minetti, C. Bruno; and the Italian Network for Congenital Myopathies IRCCS “Stella Maris”, Pisa, Italy; 1 Policlinico Gemelli, Rome, Italy; 2 IRCCS “Bambin Gesù”, Roma, Italy; 3 Policlinico Maggiore, Milano,...
Congenital fiber type disproportion is a rare type of congenital myopathy which presents as hypotonia, delayed motor milestones and dysmorphic facies. During the past 2 years we received 449 muscle biopsies, of which 4 cases were diagnosed as congenital fiber type disproportion (CFTD). In addition to CFTD, one case also had centronuclear features. Three of them were females and one was a male c...
The Freeman-Sheldon syndrome is a rare congenital myopathy and dysplasia. Fibrotic contractures of the facial muscles result in the characteristic "whistling face". Difficulties with intubation may be attributed in part to microstomia and micrognathia. In addition to other deformities, limb myopathy results in ulnar flexion contractures of the hand and equinovarus/valgus deformities of the feet...
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various pheno...
We describe the successful use of the short-acting, non-depolarizing neuromuscular blocking agent, mivacurium, in a 53-yr-old female patient with late onset congenital myopathy, undergoing elective submucous resection of the inferior turbinates. She was unable to climb stairs and walking was limited to periods of 15 min because of generalized weakness, fatigue and shortness of breath. A Datex R...
Nemaline rod myopathy (NM) is a rare form of congenital myopathy characterized by slowly progressive or nonprogressive muscle weakness and pathognomonic rod-like structures within the muscle fibers. To the best of our knowledge, this is first documentation of the clinicopathological features of this rare entity from India. All cases of NM diagnosed in our laboratory were retrieved. Clinical and...
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