Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0010200 (cough)
 23,843 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Among 200,000 infants screened for alpha 1-antitrypsin (alpha 1-AT) deficiency, 125 Pi Z, 48 Pi Z, 1Pi S-, and 2 Pi Z- children were followed up prospectively. Eleven percent of the Pi Z infants had neonatal cholestasis, and at 2 years of age three of them had cirrhosis. About 50% of the asymptomatic Pi Z and Pi Z- subjects occasionally had serum alanine aminotransferase (ALAT) levels above normal, and in 15% of them the levels were probably permanently increased during the first two years of life. Two previously healthy Pi Z children had transient symptoms of liver disease at age 2 years in connection with severe infections. The Pi SZ children had no significant clinical liver disease and only two had abnormal serum ALAT levels. Among Pi Z children up to 2 years of age the following diseases were also encountered: eight had recurrent bronchitis with wheezing, two had persistant cough (both had cirrhosis), one had severe pneumonia, one was mentally retarded, three had urinary tract infections, six had pronounced eczema, one had allergic shock, and three had congenital malformations. Among the Pi SZ children one had recurrent bronchitis, one had eczema, and one had juvenile rheumatoid arthritis. Three children, two Pi Z and one Pi SZ, have died. The Pi Z- and Pi S- subjects were healthy. In conclusion a variety of significant symptoms were observed in about 30% of the Pi Z children compared with 6% of the Pi SZ children during the first two years of life.
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PMID:alpha 1-antitrypsin deficiency in early childhood. 30 15

The term cryptogenic organising pneumonia has been used for the combination of dyspnoea, cough, pleuritic pain, widespread shadows on chest radiographs, and histological evidence of intra-alveolar organisation with buds of granulation tissue within the alveoli. We report 12 patients with seasonal recurrence of this disorder for between 3 and 11 years. In all 12 patients, symptoms recurred between late February and early May every year, tending to increase in severity each year, and resolved between June and January. Chest radiography and computed tomography showed bilateral consolidation. Lung biopsy samples showed intra-alveolar buds of granulation tissue. There were many neutrophils within the lumina of medium-sized airways and terminal bronchioles showed evidence of obstruction by granulation tissue. Functionally, the predominant defect was restrictive and only 2 patients (life-long non-smokers) had airflow limitation. All 12 patients had very high activities of liver enzymes, suggesting intrahepatic cholestasis, but no other evidence of liver disease. Cultures of blood, sputum, lung tissue, and bronchoalveolar lavage fluid, viral screening, and complement fixation tests were consistently negative. In all patients all abnormalities responded rapidly to oral steroid therapy. These findings suggest a seasonal syndrome of organising pneumonia and biochemical abnormalities indicative of intrahepatic cholestasis. No aetiological factor has been identified, but the nature and periodicity of the illness point to an inhaled agent present in the environment for a limited period every year.
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PMID:Seasonal cryptogenic organising pneumonia with biochemical cholestasis: a new clinical entity. 135 1

A 35-year-old Swiss woman with AIDS experienced fever, jaundice and cough. Laboratory evaluation revealed signs of an infection and cholestasis. The examination by ultrasound showed thickening of the intra- and extrahepatic bile ducts and gallbladder wall, without dilatation or stones. Endoscopic retrograde cholangiography demonstrated diffuse sclerosing cholangitis like lesions in the biliary tract and confirmed the diagnosis of a HIV related cholangiopathy. The cause was a cytomegalovirus infection as shown by liver biopsy with detection of cytomegalovirus early antigen. The treatment with ganciclovir was of some efficacy with improvement of jaundice.
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PMID:[HIV infection, fever and cholestasis]. 802 60

Cholestatic jaundice of pregnancy is generally a self-limiting condition that occurs in the last trimester and disappears within 1-2 weeks after delivery. The cases of two women who developed severe intrahepatic cholestasis of pregnancy are presented. After delivery, pruritus and jaundice increased and the maximal level of bilirubin reached 500 and 433 mumol/L, respectively (normal, < 20 mumol/L). A familial aggregation was present in one case. Extensive laboratory, radiological, and histopathological investigation showed no other cause of jaundice. Cholestyramine, ursodeoxycholic acid, S-adenosylmethionine, evening primrose oil, and ultraviolet light were used without evidence of efficacy. On the other hand, after corticosteroids were given pruritus ceased and biochemical alterations became normal 35 and 43 weeks, respectively, after delivery. During follow-up 2 years after delivery in one patient, symptoms have not recurred and liver function tests have remained normal. A therapy-resistant dry cough in the other patient is described as a new clinical symptom of severe cholestasis.
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PMID:Prolonged postpartum course of intrahepatic cholestasis of pregnancy. 816 42

Benign recurrent intrahepatic cholestasis (BRIC) is a syndrome characterized by recurrent episodes of cholestasis with associated pruritus. The intensity and duration of cholestatic episodes, and the length of the intervening periods, vary unpredictably. We report the case of a patient with BRIC who was incapacitated by a severe intractable cough that accompanied marked pruritus during her second cholestatic episode. No cause for the cough was found, and it resolved spontaneously with amelioration of mild restrictive abnormalities of pulmonary function as the cholestasis subsided. Although cough has not been recognized as a complication of cholestasis, we postulate that it may occur either (i) as a result of direct stimulation of sensory nerves by circulating humoral substances related to the cholestasis that act either peripherally in the airways or centrally, or (ii) through stimulation of the vagus nerve in the liver, leading to cough that is mediated either centrally or by reflex.
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PMID:Intractable cough and abnormal pulmonary function in benign recurrent intrahepatic cholestasis. 885 52

Benign recurrent intrahepatic cholestasis (BRIC or Summerskill-Walshe-Tygstrup-syndrome) is a rare autosomal recessive form of liver disease, which usually becomes manifest in childhood. Characteristic are recurrent episodes of jaundice and itching of different duration. Number and duration of episodic attack and asymptomatic period develop individually. For diagnosis of BRIC following criteria are proposed: At least three episodes of severe jaundice and pruritus with biochemical evidence of cholestasis, normal intra-and extrahepatic bile ducts on cholangiography, absence of a factor known to produce intrahepatic cholestasis and symptom-free intervals of several months or years. Often the diagnosis of BRIC is made very late and patients have to suffer invasive investigations (explorative laparotomy). Because of the unknown pathophysiological mechanism there is no specific treatment. We report on a 53-year-old patient with jaundice, severe pruritus, vomiting, loss of hair and weight, extreme sleeplessness and intractable cough. At the onset of the attack an increase of serum bilirubin concentration and serum alkaline phosphatase was observed, whereas aspartate and alanine aminotransferase and gamma-glutamyltransferase were normal. Histological findings of liver biopsy revealed accumulation of bile plugs in bile canaliculi. The long-term follow-up of our patient confirms that the prognosis is good.
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PMID:[Follow-up of benign recurrent intrahepatic cholestasis (Summerskill-Walshe-Tygstrup syndrome) over 46 years]. 965 5

A patient with hepatocellular carcinoma had fever, cough, dyspnea. The analysis and the transcatheter arterial chemoembolization (TACE) showed leucocytosis, cholestasis and pleural viscous fluid with bilirubin. The patient was stabilized and two chest tube were placed. Abdomen CT demonstrated dilated bile duct and pleuro-biliary fistula: dilated bile duct, necrosis and portal thrombus were predictive for TACE-induced pleuro-biliary fistula.
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PMID:[An unusual complication of hepatocellular carcinoma: the pleuro-biliary fistula]. 1935 Aug

Citrin deficiency (CD) is an autosomal recessive disorder with SLC25A13 as causative gene that encodes citrin, the liver-type aspartate/glutamate carrier isoform 2 (AGC2). Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), the major CD phenotype at pediatric age, has been previously reported as a self-limiting condition with clinical presentations resolving between 6 months and 1 year of life. We report the prenatal diagnosis of CD in a family with a fatal NICCD proband. The proband was a 10-month-old male presenting cough for 8 days and jaundiced skin 1 day. Physical examination revealed fever, dark jaundiced sclera and skin, hoarse breathing sounds, and hepatosplenomegaly. Laboratory tests uncovered elevated cholestatic indices, increased ammonia, and prolonged activated partial thromboplastin time and prothrombin time, and reduced fibrinogen. Sonography showed the features of liver cirrhosis. Metabolome analysis uncovered large quantity of 4-hydroxyphenyllactate and dicarboxylates in urine and increased citrulline and methionine in blood. The patient passed away due to liver failure at his age of 13.5 months. Mutation analysis revealed him a homozygote of 851del4, a four-base deletion in exon 9 of SLC25A13 gene. On request of the parents who had a second fetus, prenatal diagnosis of CD was performed by PCR-electrophoresis following amniocentesis and amniocyte culture, and demonstrated the fetus a carrier of the same mutation. The fatal proband in the present report has provided clinical evidence challenging the traditional concept on NICCD prognosis. Moreover, as the first trial on CD prenatal diagnosis, this study might open a novel area for clinical management of CD.
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PMID:Prenatal diagnosis of citrin deficiency in a Chinese family with a fatal proband. 2209 53

A 22-year-old Tennessee Walking Horse mare was presented to the Auburn University Large Animal Teaching Hospital with a 3-day history of lethargy, anorexia, and mild signs of colic. The mare had a several-month history of weight loss and refractory cough. Physical examination revealed an increased respiratory rate, and crackles and wheezes were heard on thoracic auscultation. Thoracic ultrasonographic examination showed disseminated, minor, bilateral comet tail-like lesions on the parietal pleural surfaces. Abdominal ultrasonographic examination was unremarkable. Trans-rectal palpation revealed a firm small colon impaction with concomitant diarrhea. Laboratory data were characterized by a very pronounced acute inflammatory leukogram with severe neutropenia and significant left shift, evidence of hepatocellular damage/necrosis, cholestasis, and possibly mixed metabolic alkalosis and acidosis. On cytologic evaluation of a peritoneal fluid sample, there were many large granular lymphocytes (LGL). Large numbers of LGL were also observed on cytologic examination of a subsequent transtracheal wash. The final cytologic interpretation was disseminated lymphoma with LGL morphology. Due to worsening of the clinical signs and poor prognosis, the mare was euthanized. On necropsy and in histopathologic examination, disseminated lymphoma with LGL morphology was noted in a mesenteric lymph node, lungs, liver, spleen, kidneys, and right dorsal colon. Lymphoma with LGL morphology is rarely diagnosed in the horse. This report provides unique cytologic findings of a case of disseminated lymphoma with LGL morphology in a horse, confirmed with histopathologic evaluation.
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PMID:Disseminated lymphoma with large granular lymphocyte morphology diagnosed in a horse via abdominal fluid and transtracheal wash cytology. 2594 65

Little is known about the effects of mother's intrahepatic cholestasis of pregnancy (ICP) on the health of sons born to these mothers. The purpose of the present study was to explore the health of sons born to mothers with ICP. The study design was a retrospective study of ICP mothers' sons. In the region of Tampere University Hospital in Finland, 365 sons of mothers with ICP during 1969 to 1988 and 617 sons of mothers without ICP were sent a questionnaire in 2010. The response rates were 37.8% (n = 138) and 36.6% (n = 226), respectively. Only minor differences were reported between the two groups. Self-evaluated health was similar. There were no significant differences between the groups regarding symptoms and complaints, diagnosed diseases, mental health, and use of medicines. Cough was 10.8 percentage points less common among ICP mothers' sons than among controls (p = .034). Urticaria was more common among ICP mothers' sons, the difference in percentage points being 2.2 (p = .026). In general, a mother's ICP does not affect her son's health.
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PMID:Men's Health Is Not Affected by Their Mothers' Intrahepatic Cholestasis of Pregnancy. 2594 45


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