Gene/Protein Disease Symptom Drug Enzyme Compound
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Heart-lung transplantation for treatment of end-stage cardiopulmonary disease continues to be plagued by many problems. Three primary ones are the technical difficulties that can be encountered, particularly in those patients who have undergone previous cardiac operations, the additional restriction on donor availability imposed by the lack of satisfactory preservation techniques, and the need for lung size compatibility. Two of these difficulties and others surfaced postoperatively in a heart-lung transplant recipient who presented a series of unique operative and therapeutic challenges. A 42-year-old woman with chronic pulmonary hypertension and previous atrial septal defect repair underwent a heart-lung transplantation in August 1985. The operative procedure was expectedly complicated by bleeding from extensive mediastinal adhesions from the previous sternotomy and bronchial collateralization. Excessive chest tube drainage postoperatively necessitated reoperation to control bleeding from a right bronchial artery tributary. Phrenic nerve paresis, hepatomegaly, and marked abdominal distention caused persistent atelectasis and eventual right lower lobe collapse. Arteriovenous shunting and low oxygen saturation necessitated right lower lobectomy 15 days after transplantation, believed to be the first use of this procedure in a heart-lung graft recipient. Although oxygenation improved dramatically, continued ventilatory support led to tracheostomy. An intensive, psychologically oriented physical therapy program was initiated to access and retrain intercostal and accessory muscles. The tracheostomy cannula was removed after 43 days and gradual weaning from supplemental oxygen was accomplished. During this protracted recovery period, an episode of rejection was also encountered and successfully managed with steroid therapy. The patient continued to progress satisfactorily and was discharged 83 days after transplantation. She is well and active 20 months after discharge.
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PMID:Postoperative complications necessitating right lower lobectomy in a heart-lung transplant recipient with previous sternotomy. 311 65

Twenty-six cases of adult T-cell leukemia/lymphoma (ATLL) were identified between 1983 and 1991 in Martinique (French West Indies). There were 14 men and 12 women, all of mixed racial descent and born in Martinique. Their ages ranged from 23 to 95 years. The main clinical and laboratory features at initial presentation were peripheral lymphadenopathy (22 cases), hepatomegaly (11 cases), splenomegaly (10 cases), cutaneous lesions (12 cases), hypercalcemia (16 cases), refractory infection by Strongyloides stercoralis (12 cases), and pre-existing autoimmune disorders (4 cases). All patients had absolute lymphocytosis with circulating pleomorphic abnormal lymphocytes. The prognosis was poor, with most patients (20 cases) surviving for less than 6 months. Although the overall clinicopathologic features of ATLL in this series are similar to those described in previous reports, we observed three additional points of interest: a high association with Strongyloides infection, an increased incidence of tropical spastic paresis/HTLV-1 associated myelopathy (TSP/HAM) among the relatives of the patients (5 cases), and the presence of prior collagen vascular diseases.
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PMID:Adult T-cell leukemia-lymphoma: a clinico-pathologic study of twenty-six patients from Martinique. 811 52

Gaucher disease is the most prevalent hereditary metabolic storage disorder, and the most common genetic disease in individuals of Ashkenazic Jewish ancestry. Patients with Gaucher disease have been classified into three clinical phenotypes. Patients with type 1 disease exhibit markedly variable hepatosplenomegaly, anemia, thrombocytopenia, skeletal, and, to a lesser extent, pulmonary and kidney involvement. The central nervous system does not appear to be involved. In patients with type 2 Gaucher disease, hepatosplenomegaly and extensive central nervous system damage are apparent in infancy. These patients usually die between 1 and 2 years of age. Patients with type 3 Gaucher disease have been subclassified into types 3a and 3b. Type 3a patients exhibit mild-to-moderate hepatosplenomegaly and slowly progressive neurologic deterioration. Recurrent myoclonic seizures are common. Patients with type 3b Gaucher disease exhibit splenomegaly along with extensive hepatomegaly that is frequently accompanied by esophageal varices. Horizontal supranuclear gaze paresis is the major neurologic sign. Excessive quantities of glucocerebroside accumulate in the organs of patients with Gaucher disease because of a deficiency of the enzyme glucocerebrosidase. In the vast majority of patients, the reduction of glucocerebrosidase activity is caused by mutations in the gene that codes for glucocerebrosidase. In a few instances, glucocerebroside accumulates due to a lack of saposin C, a cohydrolase that is required in addition to glucocerebrosidase for the catabolism of glucocerebroside. Mutations in the glucocerebrosidase gene are discussed in the context of the severity of disease and the presence or absence of nervous system involvement. Enzyme replacement therapy is highly beneficial for patients with type 1 Gaucher disease. Enzyme replacement is also being investigated for patients with type 3b Gaucher disease. Novel procedures must be developed to deliver glucocerebrosidase to the nervous system so that patients with type 2 and type 3a Gaucher disease can be helped. Exploration of gene therapy for Gaucher disease is under way.
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PMID:The role of neurogenetics in Gaucher disease. 821 80