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1.
Pneumologie ; 67(8): 471-5, 2013 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-23846428

RESUMO

A 37-year-old female patient presented with sudden dyspnea and chest pain. Spontaneous pneumothoraces had been observed several times before in this patient and two members of the patient´s family in the last years. Moreover, she exhibited papular facial skin lesions. Radiomorphologically a pneumothorax apical on the left side and basal accentuated cystic lung destruction on both sides could be seen. Pleurodesis and several wedge resections with insertion of a drainage on the left side were performed therapeutically. Histology disclosed multiple cysts, whereby typical differential diagnoses could be excluded by immunohistochemistry. A molecular genetic investigation detected a heterozygous mutation in the gene coding for follikulin (FLCN). Thereby, Birt-Hogg-Dubé syndrome (BHDS) was diagnosed. BHDS follows autosomal dominant inheritance and is characterized by cystic lung lesions with recurrent pneumothoraces, cutaneous fibrofolliculomas and an increased risk of renal carcinomas. It is based on mutations in the gene coding for the protein FLCN on chromosome 17.


Assuntos
Síndrome de Birt-Hogg-Dubé/diagnóstico , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico , Adulto , Diagnóstico Diferencial , Dermatoses Faciais , Feminino , Humanos , Dermatopatias Vesiculobolhosas
2.
Handchir Mikrochir Plast Chir ; 28(3): 143-6, 1996 May.
Artigo em Alemão | MEDLINE | ID: mdl-8767945

RESUMO

In the course of a prospective randomised study, 120 patients underwent a carpal tunnel release procedure. The follow-up documentation included 101 patients. 54 patients had the conventional open procedure, including epineural neurolysis of the median nerve. 47 patients were treated with the Agee endoscopic procedure. The documentation included: patients age, sex, profession, duration of treatments, disablement, return to the activities of daily life (ADL) and pre- and postoperative neurological symptoms and postoperative complications. The electroneurographical measurements were performed preoperatively and nine months after operation by the same neurologist. The open and endoscopic carpal tunnel release procedures are described and the study results are reported. None of the 101 patients had wound-healing impairments. Clinical and neurological follow-up examinations did not reveal any signs of injured nerves or tendons. The study shows that the endoscopic group returned to work significantly earlier compared to the control group. At the same time, the Agee group had reduced postoperative pain symptoms. Regarding the long-term results, no significant difference between both groups was found. Based on the electrophysiological results, the study shows that epineural neurolysis of the median nerve is not necessary.


Assuntos
Artroscópios , Síndrome do Túnel Carpal/cirurgia , Endoscópios , Feminino , Seguimentos , Humanos , Masculino , Exame Neurológico , Complicações Pós-Operatórias/etiologia , Estudos Prospectivos
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