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For the first time in Germany cases of a "centronuclear myopathy" are described in a 14-year-old boy and his 18-year-old sister. First symptoms in both patients appeared at 4 to 5 years of age with a "sleepy facial expression", clumsy gait and rapid fatigue. Within few years the disease progressed to generalized muscle weakness and atrophy, ptosis, ophthalmoplegia externa and areflexia. Weakness and atrophy were most pronounced in the distal muscles of the lower extremities. Both patients were free of epilepsy and the EEG recordings were normal. Motor and sensory nerve conduction velocities were normal. Repetitive stimulation of nerves revealed a normal transmission from nerve to muscle. Muscle biopsy showed a type I muscle fiber hypotrophy and a type II muscle fibre hypertrophy in addition to a predominance of type I fibres. Both fibre types showed central nuclei, sometimes appearing as chains in longitudinal sections. In most cells with central nuclei there persists a very small pericentral zone free of myofibrils but with increased activity of oxidative enzymes and phosphorylase. 2--3% of muscle fibres in cross sections showed a decreased of absent enzyme activity in the most peripheral fibre zone. Electron microscopy showed evidence of a centrally distinct myofibrillar disintegration. The father of both children had a ptosis at least from the 20th year of age. 5 years later generalized progressive muscle atrophy was recorded. Aged 51 years he died of pneumonia. Though not proved most probably the father suffered from the same disease as the children, pointing to an autosomal dominant inheritance in this family. The disease, according to the literature, seems to be genetically heterogeneous. The clinical picture seems to be independent of the mode of inheritance. Our patients showed a relatively rapid progression of symptoms. Pathogenetically the "centronuclear myopathy" may result from a disturbance of correlated nerve-muscle structures starting during early fetal life.
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PMID:[Centronuclear myopathy with autosomal dominant inheritance(author's transl)]. 115 Feb 40

The etiology of acute severe mitral incompetence resulting from rupture of the chordae is presented and is illustrated by four case reports. The condition was incorrectly diagnosed and treated primarily as pneumonia or obstructive pulmonary disease. The correct diagnosis was established primarily by echocardiography. Treatment was surgical with implantation of a mitral valvular prosthesis. In three out of four patients, myxomatously degenerated tissue and balooning of the edges of the cups, compatible with the diagnosis of the mitral prolapse syndrome were found. The pathogenesis appears to be primarily dysplasia of the chordae with a component of mechanical wear and tear with physical exertion as the factor precipitating the rupture. The diagnosis of severe mitral incompetence resulting from rupture of the chordae should be borne in mind in cases of acutely developing dyspnoea.
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PMID:[Acute surgery-requiring mitral valve insufficiency caused by rupture of the chordae tendineae]. 200 46

This paper describes traditional obstetric care among women of the Igbo tribe in Nigeria. It also discusses the role of traditional birth attendants, antenatal care, management of delivery complications, postnatal care and traditional community practices surrounding birth. There are no special agencies responsible for the care of the pregnant women in the traditional Igbo community. 2 categories of indigenous midwives are recognized: those who have developed a special interest in maternity care and conduct delivery only for close relatives and friends; and the herbalist-cum-midwife, usually a male, who is a professional medical practitioner. Most pregnant women in the Igbo community receive no formal antenatal care. There are several strong food and behavioral taboos associated with pregnancy. Certain foods are believed to cause long, difficult labor. The traditional midwife is only summoned when delivery is considered imminent. Factors which contribute to the high mortality rates include an almost complete absence of antenatal attention, ignorance of the most elementary principles of hygiene, delivery in an unsanitary environment, the long wait for the placenta to be born before the cord is cut, the use of unsterile razors for that purpose, and the subsequent nonaseptic care of the umbilical cord stump. Neonatal tetanus, pneumonia and bronchitis are major causes of child loss in Nigeria. The indigenous midwife is frequently helpless when complications such as perinatal hemorrhage, abnormal delivery, obstructed labor, or cord prolapse are encountered. Some herbal medicines used by indigenous midwives to augment labor in countries such as Uganda and Malawi have oxytocic properties. Herbal potions are also used by the Igbo traditional midwife to induce labor and to treat ailments such as generalized bodily edema. The plants used in such preparations should be analyzed pharmacologically. The benefits of ambulation during labor have been recognized. It should be encouraged.
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PMID:Childbearing among the Igbos of Nigeria. 287 77

A new patient with Leigh's syndrome (subacute necrotizing encephalomyelopathy due to pyruvate dehydrogenase complex deficiency) is presented. A Turkish boy of consanguinously married healthy parents developed progressive muscle weakness since infancy. At the age of 3 years he was unable to sit, stand or walk. Clinical examination showed general muscle weakness, hypotonia, muscle hypotrophy, bilateral ptosis, partial bilateral external ophthalmoplegia, nystagmus, intention tremor and hypoactive tendon reflexes. The EEG showed diffuse slowing, the cerebral CT scan disclosed mild hydrocephalus e vacuo. Motor nerve conduction velocity was slightly decreased, the EMG revealed signs of neuropathy. In the biopsied muscle only a mild hypotrophy of type 2 fibres was found, no abnormal mitochondria could be detected. The sural nerve was slightly abnormal: loss of large myelinated axons, loss of unmyelinated nerves. CSF protein was elevated to 80 mg/dl, protein electrophoresis revealed the pattern of markedly impaired blood-CSF barrier. Serum lactate and pyruvate were permanently elevated. In the urine the excretion of alanine was raised. The clinical state deteriorated during intercurrent infections; somnolence, vomiting and Cheyne-Stoke's respiration occurred. At the age of 3 1/2 years the child died of pneumonia. In the liver tissue a decreased activity of the pyruvate dehydrogenase complex was found. Neuropathological examination of the brain demonstrated wide-spread changes of Leigh's spongiform encephalopathy. Several enzyme deficiencies have hitherto been associated with Leigh's syndrome: This patients confirms earlier findings that a subgroup of Leigh's syndrome is caused by pyruvate dehydrogenase complex deficiency.
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PMID:[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex]. 312 26

In 144 pull-through-operations performed for anorectal-atresia, following complications were observed: pneumonia 11%, sepsis 8.3%, peritonitis 5%, bowel obstruction 5%, osteomyelitis 1%, retraction of the pulled-through colon 4%, anal stenosis 16%, secondary megacolon 9%, fistula relapse 8%, mucosal prolapse 4%. Recto-urethral, recto-vesical- and recto-vaginal fistula relapses are managed by interposition of the gracile muscle. Anal stenoses and secondary megacolon are prevented by a sufficiently long postoperative bougienage.
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PMID:[Therapy of postoperative complications following abdominoperineal or abdominosacroperineal pull-through surgery in anal atresia]. 343 Dec 99

Congenital laryngeal stridor (CLS) and laryngomalacia are terms used to describe a common disorder characterized by onset, at or soon after birth, of a harsh respiratory sound mostly audible during inspiration. Typically, laryngoscopy reveals flaccid supraglottic structures which tend to prolapse medially toward the glottis during inspiration. Despite reports of this disorder dating back to the mid-19th century, specific etiology and pathogenesis remain nebulous. Analysis of findings in 30 infants indicate that there are often associated manifestations of delayed development in neuromuscular control. Associated findings include gastroesophageal reflux, obstructive and central apnea, hypotonia, failure to thrive, and pneumonitis. A retrospective review of relevant medical literature along with results of laryngeal dissections and analysis of clinical findings in the 30 cases leads to the conclusion that CLS may be a mild form of localized hypotonia rather than an isolated idiopathic type of anatomic abnormality.
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PMID:Congenital laryngeal stridor (laryngomalacia): etiologic factors and associated disorders. 649 35

A case of moderately severe botulism was diagnosed in a 4 weeks old white female. Clostridium botulinum toxin was identified repeatedly in the infant's faeces by means of the mouse protection assay. Clostridium botulinum was isolated in pure culture from faecal material. Both the organism and the toxin were type B. The onset of illness was characterized by mild constipation, apathy, weak sucking and difficulty with swallowing. Incipient, probably aspiration, pneumonia was diagnosed at the same time. Further signs of botulism developed during hospitalization, viz. loss of head control, pooled oral secretion, weak cry, mild ptosis, reduced facial expression, generalized muscular weakness and reduced spontaneous activity. A nasogastric feeding tube was needed because the ability to suck and swallow was impaired. Immediately on admission of the infant to hospital emergency treatment was started with ampicillin, which was followed by penicillin injections. The infant recovered in 60 days. Subsequent medical examinations demonstrated that the recovery was complete and the development normal. The case represents the first instance of infant botulism detected on the European Continent.
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PMID:Infant botulism type B in central Europe. 703 93

The number of laparoscopic or laparoscopic-assisted operations in abdominal surgery constantly increases. 64 patients between February 1992 and November 1993 underwent a laparoscopic assisted colorectal procedure. In 5 cases laparotomy was necessary. There were only 4 complications: one subileus treated conservatively and one peritoneal abscess was drained successfully under sonographic guidance; furthermore there were a postoperative pneumonia and a prolapse of the greater omentum in the area pierced by a 10 mm-trocar. The oncologic criteria for the resection of malignant tumours can be fulfilled in laparoscopic surgery. Our first experiences indicate that the advantages for the patient in laparoscopic procedures of the colon/rectum are the same as have been reported in laparoscopic cholecystectomy.
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PMID:[Laparoscopy-assisted colon surgery--overview and personal experiences with 64 patients]. 787 96

A case is reported of a 16-month-old girl who presented with generalized hypotonia, ptosis and persistent low grade fever after a previous pneumonia. Brain CT and MRI showed symmetric necrotizing lesions in the basal ganglia, substantia nigra and periaqueduct area. Lactate and pyruvate levels were elevated in both the blood and cerebrospinal fluid. Biopsy of the rectus femoris muscle for electron microscopic examination revealed some distortion of the mitochondrial cristae. Biochemical study showed normal respiratory chain enzymes. Leigh disease was considered from the neuroradiological findings and morphological investigations.
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PMID:Leigh disease (subacute necrotizing encephalomyelopathy): report of one case. 821 61

We reported an autopsy case with recent memory disturbance, characterized by localized atrophy of parahippocampal gyrus, subiculum and amygdala. This patient initially exhibited recent memory disturbance at the age of 73. She was disoriented to time and place and immediately forgot having had a meal. At the age of 75, she was hospitalized because of progressive forgetfulness and congestive heart failure. One year later, she was admitted to our medical center. On admission, she was alert, but showed severe recent memory disturbance and disorientation to time and place. By contrast, she had neither aphasia nor apraxia. No other neurological symptoms were found. Brain CT showed localized atrophy of the medial part of bilateral temporal lobes and brain SPECT (123I-IMP) revealed a decrease of cerebral blood flow in the same regions. We considered her as early stage of Alzheimer type dementia (ATD) clinically. She died of pneumonia and DIC at the age of 78. Her illness lasted about 5 years. General autopsy showed prolapse of mitral valves, bronchopneumonia and DIC. The brain weighed 1,150 gm. Coronal sections of the brain revealed locarized atrophy of bilateral mediobasal part of the temporal lobes including the rostral parahippocampal gyrus, subiculum and amygdala. There were severe neuronal loss with astrogliosis and a few neurofibrillary tangles (NFT) in the rostral para-hippocampus, CA1 of the hippocampal formation, prosubiculum and amygdala. There were neither senile plaques (SP) nor NFT in the cerebral neocortex. This case lacked neocortical SP and NFT and showed bilateral localized atrophy of rostral parahippocampal gyrus, CA1, subiculum and related structure of the ventromedial temporal lobe with severe neuronal loss and astrogliosis.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case with recent memory disturbance, characterized by localized atrophy of parahippocampal gyrus, subiculum and amygdala]. 833 75


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