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T H Vu K Tanji S A Holve E Bonilla R J Sokol R D Snyder S Fiore G H Deutsch S Dimauro D De Vivo 《Hepatology (Baltimore, Md.)》2001,34(1):116-120
Navajo neurohepatopathy (NNH) is an autosomal recessive disease of full-blooded Navajo children living in the Navajo Reservation of southwestern United States. Clinical features of NNH include peripheral and central nervous system involvement, acral mutilation, corneal scarring or ulceration, liver failure, and metabolic and immunologic derangement. The cause of NNH is unknown, but the clinical features of NNH are similar to those of patients with mitochondrial DNA (mtDNA) depletion. Therefore, we studied mtDNA concentration in the liver from 2 patients with NNH. Using histochemical, biochemical, and molecular techniques, we found evidence of mtDNA depletion, and we propose that the primary defect in NNH is in the nuclear regulation of mtDNA copy number. 相似文献
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A 6-week-old boy had generalized weakness, requiring assisted ventilation, and lactic acidosis. At 6 months, the lactic acidosis resolved, and the patient started to improve; assisted ventilation was discontinued at 15 months. Muscle biopsies at 4 and 11 months showed accumulation of mitochondria, lipid, and glycogen; cytochrome c oxidase (COX) activity was 11% of the lowest control in the first biopsy and 57% in the second. Immunocytochemistry and immunotitration showed presence of immunologically reactive enzyme protein in both biopsies. This case confirms a previous report of benign infantile myopathy due to reversible COX deficiency. The severe fibrosis in the second biopsy may explain the slower rate of clinical recovery in this child. 相似文献
86.
Neglected traumatic posterior dislocations of the shoulder: controversies on indications for treatment and new CT scan findings 总被引:4,自引:0,他引:4
Gustavo Aparicio Emilio Calvo Luis Bonilla Luis Espejo Rodolfo Box 《Journal of orthopaedic science》2000,5(1):37-42
We report seven missed traumatic posterior dislocations of the shoulder in six patients. In all seven shoulders, anteroposterior
radiographs did not provide the diagnosis in the emergency room after the trauma (epileptic seizure in four patients) and
diagnosis was delayed for at least 24 h. The final diagnosis was reached by clinical suspicion and computed tomography (CT)
scan of the seven shoulders. Two shoulders were treated by closed reduction and three were treated by closed reduction and
percutaneous pinning, although four of these five shoulders presented a defect in the humeral head involving 20%–25% of the
articular surface. Two shoulders dislocated for more than 6 months were treated according to Mc Laughlin's technique modified
by Hawkins instead of an arthroplasty. At a minimum follow-up of 2 years and 2 months, the functional results according to
Hawkins were good in all seven shoulders. There was no recurrence of the dislocation in any patient. Radiographs showed mild
degenerative changes. The establishment of indications for treatment, based on the proportion of articular surface of the
humeral head involved and the time of evolution of the dislocation, needs more clinical or experimental evidence. In epileptic
patients, strict control of medication is of the utmost importance.
Received for publication on Jan. 7, 1999; accepted on June 23, 1999 相似文献
87.
Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathy 总被引:3,自引:0,他引:3
E Bonilla D S Younger H W Chang U Tantravahi A F Miranda R Medori S DiMauro D Warburton L P Rowland 《Neurology》1990,40(8):1267-1270
We studied monozygous twin women, age 63. One, asymptomatic, had a serum creatine kinase (CK) level of 191 units (normal, 1 to 50); her son died of typical Duchenne muscular dystrophy (DMD) at age 18. Her twin sister had symptomatic limb weakness from about age 40. Her serum CK was 495 units. EMG and muscle biopsy were compatible with myopathy. In the asymptomatic twin, the peripheral blood lymphocyte karyotype was 46,XX. In the affected twin, 18% of cells were 45,X, and the others 46,XX, without X/autosome translocation. DNA analysis did not reveal a deletion at the DMD locus. Immunologic studies of dystrophin showed a partial deficiency of the protein that was more severe in the symptomatic twin. The clinical discordance and the different severity of dystrophin deficiency may have resulted from the effects of lyonization. 相似文献
88.
Omar Amado Maria Bautista Jose Moore Guillermo Bonilla Nicolas Jimenez Adolfo Llinás 《Journal of Clinical Orthopaedics and Trauma》2018,9(2):137-141
Introduction
Joint dislocation is one of the most frequent complications after hip arthroplasty. Multiple strategies have demonstrated ability to prevent instability when used in isolation, but the effect when more than one intervention is implemented has not been measured. The purpose of this study is to assess the rate of dislocation after implementation of a protocol of combined strategies for prevention of instability.Materials and methods
Consecutive patients undergoing primary total hip replacement for hip osteoarthritis between February 2012 and June 2014 were included. A multimodal protocol including patient education, use of large femoral heads, posterior soft-tissue repair, and intraoperative adjustment of limb length and hip offset was applied. Dislocation episodes were documented trough medical records review and a telephonic follow-up at 3 and 12 months after surgery.Results
During the period of study 331 patients were included, mean age was 66 years and 68.8% were females. Only 0.91% of patients were lost to follow-up. Eighty-nine percent of patients received all interventions. Cumulative dislocation rate at 3 months was 0.60% and 0.90% at 12 months.Conclusions
The implementation of a multimodal protocol for prevention of prosthesis instability produces a low rate of dislocation, which compares favorably with benchmarks. We recommend the use of a combination of multiple interventions to prevent this complication. 相似文献89.
Phase I study of granulocyte colony-stimulating factor in patients with transitional cell carcinoma of the urothelium. 总被引:5,自引:1,他引:5 下载免费PDF全文
J L Gabrilove A Jakubowski K Fain J Grous H Scher C Sternberg A Yagoda B Clarkson M A Bonilla H F Oettgen et al. 《The Journal of clinical investigation》1988,82(4):1454-1461
Recombinant human granulocyte colony-stimulating factor (rhG-CSF) was administered at a dose of 1-60 micrograms/kg of body weight to 22 patients with transitional cell carcinoma before chemotherapy as part of a Phase I/II study. In all patients, a specific dose-dependent increase in the absolute neutrophil count (ANC) of 1.8-12 fold was seen. In addition, this augmentation in the ANC was accompanied by an increase in leukocyte alkaline phosphatase, a marker of secondary granule formation. In six of eight patients analyzed, an increase in bone marrow myeloid to erythroid cell ratio was seen. Day 14 peripheral blood cell derived colony forming unit granulocyte macrophage were also increased by day 6 of rhG-CSF treatment. Circulating levels of eosinophils and basophils were unchanged; however, a 10-fold increase in monocytes was observed in patients treated at the highest doses. There was also a small increase in CD3+ lymphocytes that was not dose dependent. Hemoglobin, hematocrit, and platelet count remained near baseline throughout the period of rhG-CSF administration. These findings demonstrate that rhG-CSF is a potent stimulus for normal neutrophil proliferation and maturation. 相似文献
90.