1/13. The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements.We report the finding of paternal isodisomy for chromosome 14 in a fetus found to have a der(14;14)(q10;q10) by amniocentesis. The pregnancy was complicated by severe polyhydramnios and elevated amniotic fluid alpha-fetoprotein (AFP). The infant showed features consistent with paternal uniparental disomy (UPD) including postnatal growth retardation, poor respiratory function, feeding difficulties, and evidence of hypertrophic cardiomyopathy. The present case, in addition to other reported cases of UPD involving balanced acrocentric rearrangements, supports testing for UPD in prenatally detected Robertsonian translocations and isochromosomes.- - - - - - - - - - ranking = 1keywords = alpha (Clic here for more details about this article) |
2/13. Upper respiratory tract involvement in the course of diffuse infiltrative lymphocytosis syndrome in hiv-1-infected patients: report of 2 cases.Diffuse infiltrative lymphocytosis syndrome (DILS) in patients with human immunodeficiency virus (HIV) infection is characterized by persistent CD8( ) lymphocytosis with visceral lymphocytic infiltration. DILS induces a large spectrum of clinical features. We describe 2 HIV-infected patients with upper respiratory tract involvement that occurred during the course of DILS.- - - - - - - - - - ranking = 0.44156142749635keywords = deficiency (Clic here for more details about this article) |
3/13. Complex extra-intestinal complications of ulcerative colitis in a patient with alpha1-antitrypsin deficiency.Ulcerative colitis (UC) can manifest with a variety of extra-intestinal disorders frequently affecting the skin, joints, and liver. An aetiologic role of alpha1-antitrypsin deficiency in chronic inflammatory bowel disease has recently been suggested. We report a patient with UC and alpha1-antitrypsin deficiency who presented with disseminated cutaneous leucocytoclastic vasculitis clinically appearing with target-like purpuric patches and haemorrhagic oedemas. In addition, he displayed acute haemorrhage of the eyes and the respiratory tract consistent with a systemic vasculitic process. Moreover, he had autoimmune haemolytic anaemia. Systemic vasculitides, such as Wegener's granulomatosis, churg-strauss syndrome, and microscopic polyangiitis, could widely be excluded. Systemically administered glucocorticosteroids and azathioprine led to dramatic improvement of extra-intestinal symptoms. On the basis of alpha1-antitrypsin deficiency and UC, the present patient likely developed severe systemic vasculitis with multi-organ involvement. UC should at times be viewed within the context of a more generalized immune imbalance affecting multiple organs, and not as an isolated pathological entity. Testing for alpha1-antitrypsin deficiency in UC patients may detect individuals at higher risk of severe extra-intestinal involvement.- - - - - - - - - - ranking = 8204.4486190062keywords = antitrypsin deficiency, antitrypsin, alpha, deficiency (Clic here for more details about this article) |
4/13. Respiratory cryptosporidiosis in a patient with malignant lymphoma. Report of a case and review of the literature.Respiratory cryptosporidiosis is a rare complication of intestinal infection by cryptosporidia, with only six cases reported (to our knowledge) since its first description in 1983. We report the first case of respiratory cryptosporidiosis recognized at the National Institutes of health, Bethesda, Md. An antemortem diagnosis was made based on recognition of acid-fast cryptosporidia in an induced sputum specimen obtained from a 64-year-old woman with malignant lymphoma and an associated profound immunodeficiency. autopsy confirmed the presence of cryptosporidia along the apical aspect of the respiratory epithelium lining the trachea, bronchi, and bronchioles. Cryptosporidia were also identified in the duodenum and gallbladder. Immunohistochemical staining of the paraffin-embedded autopsy lung sections using a monoclonal antibody verified the diagnosis of cryptosporidiosis. review of our case and the literature suggests that respiratory cryptosporidiosis is characterized by a chronic tracheitis, bronchitis, and bronchiolitis but generally does not cause severe pulmonary dysfunction.- - - - - - - - - - ranking = 0.44156142749635keywords = deficiency (Clic here for more details about this article) |
5/13. Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity.The proteinase inhibitor null (Pi-) allele is a rare cause of alpha 1 antitrypsin (AAT) deficiency. In three families, all the subjects with AAT deficiency due to PiZ- presented in early childhood with recurrent chest infections and wheezing presumably related to passive smoking. In Pi- the AAT gene is present and there is no evidence for a gene deletion. In one family a restriction fragment length polymorphism (RFLP) detected with the enzyme XbaI segregates with the Pi- allele. In a family where a consanguineous marriage occurred, the XbaI polymorphism segregates with the normal M1 allele rather than Pi-, suggesting that Pi- may have originated from M1. In contrast, a third family and 20 normal unrelated subjects do not show the RFLP.- - - - - - - - - - ranking = 4176.748338915keywords = antitrypsin deficiency, antitrypsin, alpha, deficiency (Clic here for more details about this article) |
6/13. Cardiorespiratory disease associated with Hallermann-Streiff syndrome: analysis of craniofacial morphology by cephalometric roentgenograms.This paper analyzes the craniofacial morphology in a patient with typical Hallermann-Streiff syndrome (HSS) who developed symptomatic cardiorespiratory deficiency at the age of 48 years. The patient had obstructive sleep apnea (OSA), hypoxia, hypercarbia, pulmonary hypertension, tricuspid insufficiency, and right ventricular failure. Analysis of cephalometric roentgenograms, done 15 years earlier, revealed severe mandibular hypoplasia with marked underdevelopment of the ramus and body. The gonial angle was abnormally obtuse. The condylar and coronoid processes were reduced in size. The anteroposterior dimension of the upper airway was markedly narrowed. Cephalometric roentgenograms of six other HSS patients from our clinic were compared to those of the reference patient. Considerable variation in the features of the syndrome were noted. None of the other patients showed definitive airway obstruction. Comparison was also made with cephalometric roentgenograms of a patient with Treacher Collins syndrome and of a patient with progeria. The former showed airway obstruction associated with a deformed hypoplastic mandible; the latter had an unobstructed airway despite a small mandible because of associated hypoplasia of the maxilla and tongue. The HSS reference patient improved after oxygen therapy, diuretics, antibiotics, and relief of OSA. patients with HSS, as well as those with Treacher Collins syndrome, appear to be at risk for the development of cardiopulmonary disease if they have obstructed airways. OSA has been shown to have developed in two patients with HSS. The resultant cardiopulmonary insufficiency of such patients may be preventable if airway obstruction can be relieved relatively early in life.- - - - - - - - - - ranking = 0.44156142749635keywords = deficiency (Clic here for more details about this article) |
7/13. Unusual syndrome among premature infants: association with a new intravenous vitamin e product.Eight small, premature infants developed an unusual symptom complex of pulmonary deterioration, thrombocytopenia, liver failure, ascites, and renal failure. Five infants died; the health of the other three infants improved and they were discharged from the hospital. This unusual syndrome occurred after introduction of a new intravenous vitamin e product (E-Ferol, alpha-tocopherol acetate) for routine use in the intensive care nursery. Even though no definite conclusion was reached as to its cause, the administration of this intravenous vitamin e product appears to be a significant risk factor.- - - - - - - - - - ranking = 1keywords = alpha (Clic here for more details about this article) |
8/13. Respiratory diseases and food allergy.Both upper and lower respiratory tracts can be affected by food allergy. Manifestations in either may be exclusively due to food allergy (common in infants) or may result from the combined effects of food allergy plus another defect such as gastroesophageal reflux, a congenital defect of the heart or tracheo-bronchial tree, an immunodeficiency syndrome such as isolated IgA or IgG4 deficiency, or a concomitant inhalant allergy. Chronic rhinitis is the most common respiratory tract manifestation of food allergy. When it occurs in conjunction with lung disease, it may be a helpful indicator of activity of the allergic lung disease and of the patient's compliance in following a specific diet. Recurrent serous otitis media may be solely or partially due to food allergy. Large tonsillar and adenoid tissues, sometimes with upper airway obstruction, may be caused, or aggravated by, food allergies. Lower respiratory tract disease manifested by chronic coughing, wheezing, pulmonary infiltrates, or alveolar bleeding may also occur. Lower respiratory tract involvement is generally associated with a greater delay in onset of symptoms and with a larger quantity of allergen ingestion than chronic rhinitis. food allergy should be considered when there is a history of prior intolerance to a food in childhood or of symptoms beginning soon after a particular food was introduced into the diet. It is an important consideration in patients who have chronic respiratory tract disease which does not respond adequately to the usual therapeutic measures and is otherwise unexplained.(ABSTRACT TRUNCATED AT 250 WORDS)- - - - - - - - - - ranking = 0.88312285499271keywords = deficiency (Clic here for more details about this article) |
9/13. Pernicious anaemia and hypogammaglobulinaemia in a patient with severe infantile kyphoscoliosis.A 27-year-old man with severe infantile kyphoscoliosis suffered from recurrent respiratory tract infections during childhood and early adult life. He deteriorated and was found to have pernicious anaemia and common variable immunodeficiency with hypogammaglobulinaemia and impairment of cell-mediated immunity. Marked clinical improvement has followed the institution of effective gamma-globulin replacement.- - - - - - - - - - ranking = 0.44156142749635keywords = deficiency (Clic here for more details about this article) |
10/13. Airway compromise and delayed death following attempted central vein injection of propylhexedrine.Propylhexedrine is a potent alpha-adrenergic drug available as a nasal decongestant, which drug abusers sometimes extract and inject into a central vein. A 25-year-old white male presented to a local emergency department 32 h after attempting to inject his right internal jugular vein with "home-made crank." Following injection, he noted right neck pain, followed by fever and chills. On emergency department admission, he had inspiratory stridor and respiratory distress. Massive edema of his right neck extended from his anterior chest to the right parotid. Neck radiographs showed extensive paracervical swelling with displacement of the trachea. The patient was taken to surgery for nasotracheal intubation with fiberoptic guidance and surgical exploration. The neck contained extensive necrotic tissue that was surgically debrided. In spite of treatment with antibiotics, he developed progressive renal failure and hypotension unresponsive to fluid therapy, followed by cardiopulmonary arrest and death.- - - - - - - - - - ranking = 1keywords = alpha (Clic here for more details about this article) |
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