1/21. Ichthyosiform sarcoidosis.Ichthyosiform sarcoidosis is a rare specific cutaneous manifestation of sarcoidosis; it clinically and microscopically appears as acquired ichthyosis. We report a 68-year-old black man with a 10-year history of chronic obstructive pulmonary disease who presented with a 2-month history of acquired ichthyosis. His skin biopsy specimen showed both noncaseating granulomas in the dermis, consistent with sarcoidosis, and ichthyosis vulgaris. Ichthyosiform sarcoidosis is an uncommon presentation of cutaneous sarcoidosis that has been previously described in 19 nonwhite patients whose lesions were located on the legs. The skin lesions appeared either concurrently with or preceded the diagnosis of systemic sarcoidosis in 76% of patients; 95% of the patients eventually developed systemic involvement of their sarcoidosis. The onset of acquired ichthyosis should prompt evaluation for an associated malignancy, connective tissue disease, endocrine abnormality, nutritional deficiency, drug reaction, or sarcoidosis. A skin biopsy specimen consistent with acquired ichthyosis may point to the presence of cutaneous sarcoidosis.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/21. Case study: single lung transplantation for alpha 1-antitrypsin deficiency.alpha 1-antitrypsin deficiency predisposes individuals to emphysematous pulmonary changes. Single lung transplantation (SLTX) represents a promising, viable option for the management of alpha 1-antitrypsin deficiency/chronic obstructive pulmonary disease (COPD). The purpose of this case study is to discuss the relationship between alpha 1-antitrypsin deficiency. COPD, and SLTX, and the role of the perioperative nurse.- - - - - - - - - - ranking = 24846.904648856keywords = antitrypsin deficiency, antitrypsin, alpha, deficiency (Clic here for more details about this article) |
3/21. Three cases of alpha 1-antitrypsin deficiency: a review of diagnostic and therapeutic strategies.Deficiency of alpha 1-antitrypsin is an unusual cause of emphysema. This deficiency may be suspected when the age of onset and severity of disease are out of proportion to the history of inhaled agents (usually cigarette exposure). Three patients seen during a relatively short time in a private practice underscore the variability of presentation. Proper diagnosis offers such patients several benefits, particularly in view of new potential therapies.- - - - - - - - - - ranking = 17032.841053518keywords = antitrypsin deficiency, antitrypsin, alpha, deficiency (Clic here for more details about this article) |
4/21. Detection of an alteration of the alpha 2-macroglobulin gene in a patient with chronic lung disease and serum alpha 2-macroglobulin deficiency.alpha 2-Macroglobulin (A2M) is a major human plasma protease inhibitor capable of inhibiting most endopeptidases tested so far. In the case of the other major plasma protease inhibitor, alpha 1-antitrypsin, genetically determined deficiency states are known to increase the risk of chronic obstructive pulmonary disease (COPD) 20- to 30-fold in affected individuals. No defects of the A2M gene have been described as yet, but A2M may play a role in the regulation of protease activity in the lung, especially with respect to those proteases not inhibited by alpha 1-antitrypsin. We report here the molecular genetic detection of an alteration of the A2M gene in a patient with serum A2M deficiency and chronic lung disease since childhood. The alteration involves restriction sites detected with 10 different enzymes and is most probably caused by a major deletion or rearrangement of the gene. Nine of the restriction enzymes used detected no polymorphisms in 40 healthy control subjects and 39 COPD patients. The polymorphism detected in this patient with the enzyme PvuII was different from another described previously, and was found in this patient only. The patient is heterozygous for an alteration in the A2M gene; this may be responsible for his serum A2M deficiency and may be relevant to the early onset of pulmonary disease in his case.- - - - - - - - - - ranking = 964.11552867527keywords = antitrypsin, alpha, deficiency (Clic here for more details about this article) |
5/21. Fatal pulmonary transfusion reaction to plasma containing donor HLA antibody.A 55-year-old woman with common variable immunodeficiency and mild chronic obstructive lung disease received 3 units of plasma as immunoglobulin replacement therapy. During the administration of the final unit, her temperature rose 1 degree C, with no other observable symptoms. Fifteen minutes later she developed shortness of breath without nausea, vomiting, rash, or pruritus. In 30 min she lost consciousness, was breathless, and cyanotic. Resuscitative efforts failed. autopsy failed to pinpoint a cause of death. There was no evidence of ABO or Rh incompatibility, bacterial contamination, or hemolysis. There were no neutrophil, platelet or IgA antibodies detectable in the patient or the 3 plasma donors. There were no lymphocytotoxic HLA antibodies in the patient or two of the plasma donors. The third donor had HLA-B35 lymphocytotoxic antibodies that did not agglutinate or aggregate neutrophils. The patient's HLA type was A2, A3; B35, B40. Lymphocytotoxic crossmatches using lymphocytes of the patient were positive with plasma from the third donor but negative with the other two. An eluate prepared from post-mortem lung parenchymal tissue was cytotoxic to 7 of 8 panel lymphocytes positive for the hla-b35 antigen but not with cells lacking B35. The implicated plasma donor was healthy with a history of 6 pregnancies. This case report illustrates the potential hazard of transfusion of plasma containing HLA antibodies.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
6/21. Alpha1-antitrypsin deficiency. Severe obstructive lung disease and pregnancy.The case of a 37-year-old primigravida with severe obstructive lung disease and alpha1-antitrypsin deficiency is reported. Serial pulmonary function studies and arterial blood gases were obtained during the antenatal and postpartum periods. Intrauterine fetal growth was monitored with serial ultrasonic fetal biparietal diameter determinations. Serial oxytocin challenge tests were used to monitor uteroplacental function. Aggressive chest physiotherapy was used to maintain good maternal bronchopulmonary hygiene. A normal female infant was delivered vaginally at 38 weeks' gestation following an uneventful labor. The available obstetric literature regarding the outcome of pregnancy in patients with obstructive lung disease and cystic fibrosis is reviewed. This literature suggests that pregnancy in a patient with severe obstructive lung disease should be considered a medical indication for therapeutic abortion. Successful delivery of this patient with severe obstructive lung disease and alpha1-antitrypsin deficiency suggests that these conditions are not a contraindication to successful outcome of preganncy for both mother and child.- - - - - - - - - - ranking = 24835.595155253keywords = antitrypsin deficiency, antitrypsin, alpha, deficiency (Clic here for more details about this article) |
7/21. Diffuse hepatocellular dysplasia and carcinoma associated with the Mmalton variant of alpha 1-antitrypsin.The cirrhosis and hepatocellular carcinoma associated with alpha 1-antitrypsin deficiency has been exclusively reported with the PI Z allele. We present a 63-yr-old white man with emphysema, cirrhosis, and hepatocellular carcinoma. The latter occurred on a background of diffusely distributed hepatocellular dysplasia. serum protein electrophoresis suggested a deficiency of alpha 1-antitrypsin quantitated at 13% of normal. PI phenotyping showed that he had only the rare PI Mmalton allele, previously associated only with severe lung disease. family studies demonstrated the distribution of this rare allele. The liver at autopsy displayed well-differentiated hepatocellular carcinoma in addition to alpha 1-antitrypsin deposits in normal, dysplastic, and malignant cells.- - - - - - - - - - ranking = 6957.3157789228keywords = antitrypsin deficiency, antitrypsin, alpha, deficiency (Clic here for more details about this article) |
8/21. Familial idiopathic pulmonary hemosiderosis.Two brothers, aged 3 and 6 years, respectively, had their pulmonary conditions diagnosed as idiopathic pulmonary hemosiderosis (IPH). Both boys had severe iron-deficiency anemia, chronic cough, hemoptysis, and exertional dyspnea, and one had recurrent epistaxis. The results of light microscopic lung histopathologic studies in both patients showed numerous hemosiderinladen macrophages and chronic interstitial pneumonitis. No specific patterns of immunofluorescence of the alveolar capillary basement membranes were found. The results of electron microscopic examinations showed intact alveolar and capillary basement membranes and no evidence of electron-dense deposits. The lack of clinical or biochemical evidence for renal disease as well as the absence of serum antinuclear and antibasement membrane antibodies excluded associated autoimmune disorders. Evaluation for milk-protein allergy was negative and neither child demonstrated a clinical response to a milk-free diet. Sequential pulmonary function studies performed over four years showed episodes of acute obstructive airway disease that correlated with pulmonary hemorrhage and mild persistent restrictive lung disease. The results of this family study suggested that some cases of IPH may have a genetic basis.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
9/21. Neonatal hepatitis with obstructive jaundice in an SZ heterozygous alpha 1-antitrypsin-deficient boy and destructive lung disease in his SZ mother. A review of the literature.SZ-alpha 1-antitrypsin deficiency, leading to severe transient neonatal cholestasis with mild hepatitis is rare. In our patient, intrahepatic bile duct hypoplasia was suspected. Since cholecystography and hepatic scintigraphy failed to reveal intrahepatic bile ducts, a diagnostic surgical liver biopsy was performed. Typical intrahepatocytic PAS-positive granules and a low serum alpha 1-antitrypsin concentration allowed a correct diagnosis of the SZ phenotype. The administration of an elementary diet quickly improved the clinical condition of our patient. follow-up studies of this case and others will allow a better establishment of prognostic criteria and help in genetic counselling.- - - - - - - - - - ranking = 6484.9746601076keywords = antitrypsin deficiency, antitrypsin, alpha, deficiency (Clic here for more details about this article) |
10/21. Chronic obstructive pulmonary disease and alpha-1-antitrypsin (Pi) variation: a family study.A kindred of a white male proband with alpha1-antitrypsin deficiency, ZZ phenotype, and a severe obstructive ventilatory defect secondary to pulmonary emphysema was studied with regard to alpha1-antitrypsin phenotype, serum trypsin inhibitory capacity (T.I.C.), and pulmonary function. T.I.C.'s and alpha1-antitrypsin phenotypes were consistent with autosomal codominant inheritance. While MZ relatives as well as the proband had pulmonary function abnormalities, the pattern varied within the kindred and abnormalities were observed in some MM relatives also.- - - - - - - - - - ranking = 6956.3157789228keywords = antitrypsin deficiency, antitrypsin, alpha, deficiency (Clic here for more details about this article) |
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