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91.
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency 总被引:6,自引:0,他引:6
A family is described in which the father and three (and probably all four) of his children had a decreased capacity for the oxidation of medium-chain fatty acids. One of the children suddenly died at the age of 16 months following an episode of a rapidly deteriorating Reye syndrome-like illness with hypoketotic hypoglycemia and dicarboxylic aciduria, but without any previous alarming symptoms. The eldest sibling had died at the age of 19 months under similar conditions. The other family members had always been healthy. On fasting, all affected family members accumulated in their plasma the medium-chain fatty acids octanoic, decanoic, and cis-4-decenoic acids. Their urinary organic acid excretion profile could be characterized as "dicarboxylic aciduria." A deficiency of medium-chain acyl-coenzyme A dehydrogenase was demonstrated in a postmortem liver sample of the index patient. Cultured fibroblasts from the father and the two healthy children had a decreased rate of [14C]octanoate oxidation. It is suggested that a deficiency of medium-chain acyl-coenzyme A dehydrogenase may lead to a life-threatening illness when other complicating factors such as diarrhea and vomiting result in an abnormal depletion of the body's glycogen stores. Careful monitoring of at-risk patients during a minor illness is necessary. 相似文献
92.
Hoppe B Duran I Martin A Kribs A Benz-Bohm G Michalk DV Roth B 《Pediatric nephrology (Berlin, Germany)》2002,17(4):264-268
The risk of nephrocalcinosis in preterm infants is considerable, but conflicting numbers are given for the actual incidence
(10–65%). Furosemide induced hypercalciuria is said to be the main risk factor. We examined retrospectively the incidence,
causes and outcome of nephrocalcinosis in preterm infants born in our hospital from 1988 to 1998 (n=2190). An abnormal renal echogenicity or nephrocalcinosis was seen in 31 infants (29.7±3.3 weeks gestational age; 1307±690
g birth weight). Nephrocalcinosis was diagnosed in 16, hyperechoic kidneys (HK) in 10 and Tamm-Horsfall kidneys in 5 infants.
Main risk factors were low gestation age and birth weight, length of hospitalization, variations in acid-base status, length
of assistant ventilation and hypercalciuria at diagnosis. The incidence of nephrocalcinosis was 0.73% [1.7% for low birth
weight infants (VLBW)]. Taking the cases of nephrocalcinosis and HK together, incidence was calculated to be 1.2% overall
and 2.5% for VLBW infants, but increased to 7% in 1998. The follow-up showed persisting nephrocalcinosis or hyperechoic kidneys
in 8/26 preterm infants. In conclusion, the incidence of nephrocalcinosis was lower in our population than is usually reported.
The numbers have, however, increased over the past few years. From the follow-up it was obvious that long-term observation
of preterm infants is necessary and that complications might arise in the long run.
Received: 9 July 2001 / Revised: 14 November 2001 / Accepted: 18 November 2001 相似文献
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False aneurysm of the profunda femoris artery rarely occurs and is a serious complication following femur fracture. A 39-year-old man who developed a false aneurysm arising from the perforating branch of the profunda femoris artery following an external fixation for a complicated femur fracture was presented. Clinical diagnosis was confirmed by selective arterial angiography after occurrence of significant hemorrhage and swelling of the injured thigh. The false aneurysm was treated by ligation of the perforating branch of the profunda femoris artery and excision of the aneurysmal sac via the medial approach. Clinical status of the patient was uneventful postoperatively. The right thigh swelling decreased rapidly following the operation in 1 week. The patient was discharged on the 10th postoperative day with external fixation. False aneurysm in a branch of the profunda femoris artery is a very rare status following application of the external fixator due to complicated femur fracture. Related literatures and interventions were reviewed on the basis of this case. 相似文献
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98.
Ward KM Celebi JT Gmyrek R Grossman ME 《Journal of the American Academy of Dermatology》2002,47(4):493-496
Acute infectious purpura fulminans is a rapidly progressive syndrome of hemorrhagic skin necrosis associated with acute infection and disseminated intravascular coagulation. We report 5 cases of purpura fulminans and briefly review the literature. All cases were associated with encapsulated organisms (Streptococcus pneumoniae or Group A streptococcus), and 4 of the 5 patients had asplenism or functional hyposplenism. 相似文献
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