myotonia/kanama

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Schwartz-Jampel syndrome with gastroduodenal bleeding.

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Schwartz-Jampel syndrome is a rare autosomal recessive disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. The patients with Schwartz-Jampel syndrome have muscle stiffness and electromyography reveals complex, repetitive discharges as myotonic

Myotonia dystrophica: unusual features in a Labrador family.

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A large family with myotonia dystrophica has been recognized in an isolated area of Labrador. The complete family tree showed 29 of 108 members to be affected, including an infant with the congenital form of the disease. The propositus presented with epiphora and reduced frequency of blinking, with

Myotonia dystrophica: obstetric complications.

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We describe the course and outcome of 23 pregnancies in six women affected by myotonia dystrophica in a large Labrador family. A seventh patient had 14 pregnancies, so that the infertility commonly described in this disorder did not apply to this family. The rate of complications was high,

Scoliosis in Steinert syndrome: a case report.

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BACKGROUND Steinert syndrome is described as an autosomal dominant condition characterized by progressive muscular wasting, myotonia, musculoskeletal manifestations and rare spinal defects. Little is reported about spinal deformity associated with this syndrome. OBJECTIVE We present a patient with

Torsion of a non-gravid leiomyomatous uterus in a patient with myotonic dystrophy complaining of acute urinary retention: anaesthetic management for total abdominal hysterectomy.

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Torsion of a pregnant uterus is rare, but torsion of a non-pregnant uterus is extremely rare. Abdominal pain is the major symptom. Other symptoms include vaginal bleeding, urinary tract symptoms and gastro-intestinal manifestations. We present a case of a 37-year-old white nullipara who presented at

[Steinert's disease and pregnancy. A case report and recent literature].

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Steinert's disease or myotonic dystrophy is a heredo-degenerative neuroendocrinal dystrophy. It is an autosomal dominant disorder. The arising of a congenital myotonic dystrophy of one of the new-born children of the maternity hospital enabled to diagnose the Steinert's disease of his mother. A

Myotonic muscular dystrophy in pregnancy.

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Myotonic muscular dystrophy is an autosomal dominant disease inherited with variable penetrance. With pregnancy, the myotonia and muscle weakness may increase. There is also an increased incidence of abortion, prematurity, fetal death, labor dysfunction, and postpartum hemorrhage. A description of

Congenital myotonic dystrophy: report of one case.

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We report a laboratory-confirmed pediatric case of congenital myotonic dystrophy (CMD) in Taiwan. A 5-year-old girl presented in our neurological clinic with the chief complaints of developmental delay and slowness in learning. Clinical examination, intelligence tests, and developmental examinations

Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: confirmation of an entity.

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We describe two brothers with moderate to severe mental retardation, short stature, an unusual skull shape, early anterior balding, unusual facial morphology, hypogonadotrophic hypogonadism, small genitalia, and small patellae. The older sib had generalized hypotonia without focal neurological

Poisoning due to chlorophenoxy herbicides.

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Chlorophenoxy herbicides are used widely for the control of broad-leaved weeds. They exhibit a variety of mechanisms of toxicity including dose-dependent cell membrane damage, uncoupling of oxidative phosphorylation and disruption of acetylcoenzyme A metabolism. Following ingestion, vomiting,

Mechanisms of toxicity, clinical features, and management of acute chlorophenoxy herbicide poisoning: a review.

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BACKGROUND Chlorophenoxy herbicides are used widely for the control of broad-leaved weeds. They exhibit a variety of mechanisms of toxicity including dose-dependent cell membrane damage, uncoupling of oxidative phosphorylation, and disruption of acetylcoenzyme A metabolism. Between January 1962 and

Neurological complications of hematopoietic stem cell transplantation (HSCT): a retrospective study in a HSCT center in Brazil.

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We present the neurological complications evaluated in a series of 1000 patients who underwent hematopoietic stem cell transplantation (HSCT). Central nervous system (CNS) neurological complications, particularly brain hemorrhages, were the most common, followed by seizures and CNS infections. An

Carpal tunnel syndrome in children.

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Carpal tunnel syndrome (CTS) is rarely seen in children. A literature search in 1989 revealed 52 published cases. The authors review 163 additional cases that were published since that date. The majority of these cases were related with a genetic condition. The most common aetiology was lysosomal

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