Biomedical subjects

M Vest

Publications and source records attributed to M Vest.

At least 19 recordsLinked to original sources

PubMed1996

[Liver cell carcinoma as a late complication of Alagille syndrome (arterio-hepatic dysplasia)].

The Alagille syndrome which is also known as arterio-hepatic dysplasia is an autosomal dominant inherited disorder. In several cases cytogenetic studies revealed an interstitial deletion of the short arm of chromosome 20. The hypoplasia or paucity of the interlobular bile ducts causes a chronic intrahepatic cholestasis. The association with facial dysmorphia, embryotoxon posterior, pulmonary stenosis and vertebral deformities are required for the diagnosis of the complete Alagille syndrome. The occurrence of hepatocellular carcinoma as a late complication of the Alagille syndrome was recognized only 11 years after the first publication by Alagille et al. So far 15 cases complicated by hepatocellular carcinoma have been reported. There is one family where all four siblings suffered from hepatocellular carcinoma. Our own case concerns a 31 year old man who died of hepatocellular carcinoma. The postmortem study of his medical history reaching back to childhood allowed the diagnosis of an unrecognized Alagille syndrome.

Adult↗

PubMed1992

Respiratory function, cognitions, and panic in chronic obstructive pulmonary patients.

The present study investigated the relationship between respiratory function, catastrophic thoughts about anxiety, and panic in 48 Chronic Obstructive Pulmonary Disease (COPD) patients. During a routine office visit which included respiratory function tests (Forced Vital Capacity, FVC; Forced Expiratory Volume--first second, FEV1) patients completed a battery of questionnaires which assessed history of panic, days with shortness of breath, general activity level, agoraphobic cognitions, perception of bodily sensations, anxiety and depression. Thirty-seven percent of the sample reported experiencing a panic attack. Subjects showed a significant impairment in respiratory functioning. Patients with a history of panic did not differ from those who had not experienced panic on demographic, physiologic, or activity variables. Patients who experienced panic reported significantly more agoraphobic cognitions and greater concern with bodily sensations than did patients who did not experience panic.

Aged↗

PubMed1989

Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.

An unusual clinical course of a patient with biotinidase deficiency, causing Leigh syndrome, is reported. Laryngeal stridor was the major presenting symptom followed by progressive neurologic deterioration and death at the age of 21.5 mo. Absence of skin and hair abnormalities as well as of organic aciduria delayed the correct diagnosis. Necropsy revealed subacute necrotizing encephalopathy (Leigh syndrome). Carboxylase activities (propionyl CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase) measured in lymphocytes 1 day before death were decreased to 10% of normal values. Propionyl-CoA carboxylase was shown to be the only stable carboxylase in human postmortem tissue; in our patient it was moderately decreased in postmortem liver (29% of control) and kidney (42%), but severely decreased in brain (3%). These findings might explain the severity of neurological symptoms in the absence of marked organic aciduria. They indicate that in biotinidase deficiency the CNS may become biotin depleted earlier and more severely than other organs. Biotinidase deficiency should be included in the differential diagnosis of Leigh syndrome and of unexplained respiratory problems.

Amidohydrolases↗

PubMed1986

[Disease (Lyme disease) in pediatric patients in Switzerland caused by spirochetes (Borrelia burgdorferi) of Ixodes ricinus].

Lyme disease in children is studied in the light of questionnaires sent out twice to departments and divisions of pediatrics in Switzerland. Thirty-six serologically proven cases were collected. The 48 clinical signs attributed to Lyme disease involved the skin in 40%, the nervous system in 40%, and the joints in 20%. They were erythema chronicum migrans (13), lymphocytoma (4), acrodermatitis chronica atrophicans (2), peripheral facial palsy (14), sensomotor radiculoneuritis (2), meningoencephalitis (3) and arthritis (10, 7 of which were monoarthritic). Only half the patients had a history of tick-bite. Antibiotic therapy, usually with penicillin, reduced both the duration of symptoms and frequency of secondary disease. Cardiac involvement and chronic stages with residua were not observed in this series.

Adolescent↗

PubMed1984

Septo-optic pituitary dysplasia. Observations on three patients.

Septo-optic pituitary dysplasia is a relatively rare but pathophysiologically interesting malformation of the brain midline structures including optic chiasm and nerves, hypothalamus, neurohypophysis and septum pellucidum. The lesion develops between the 5th and 8th week of pregnancy. The cause is unknown but heredity seems unlikely. Symptoms result from hypothalamic and neurohypophyseal insufficiency of variable severity combined with reduced vision due to hypoplasia of optic nerves and chiasm. Prognosis is variable, depending on the severity of the defect as well as on the earliest time of diagnosis followed by suitable hormone substitution and specialized care of blindness. We present the clinical course in three patients and the pathological findings in one patient who died in the 14th month of life.

Child↗

PubMed1981

High-dose intravenous gammaglobulin for idiopathic thrombocytopenic purpura in childhood.

Seven children with chronic or intermittent and six with acute idiopathic thrombocytopenic purpura (ITP) were treated with large intravenous doses of polyvalent, intact immunoglobulin (Ig). In all patients the platelet count rose sharply within 5 days, but the initial response and the subsequent course varied from patient to patient. Among children with chronic ITP the initial response was more marked in splenectomised than in non-splenectomised patients. Among those with acute ITP the two who remained Ig dependent had a smaller initial response than the four patients who required no maintenance treatment. During the 90-110 days of observation five of six patients with chronic ITP could be maintained with Ig alone. No untoward effects of Ig therapy were observed.

Child↗

PubMed1978

Interrelation of maternal and foetal glucose and free fatty acids. The role of insulin and glucagon.

At birth there is a statistically significant correlation between the maternal blood sugar and the umbilical venous and arterial blood glucose. The glucose concentration in the mother is higher than in the umbilical vein, and in the latter higher than in the umbilical artery. The free fatty acids also show a falling gradient from the mother to the umbilical vein and artery. This supports the assumption that glucose and FFA pass the placenta from the mother to the foetus. Insulin concentration is significantly higher in the mother than in the cord blood. There is however no difference between umbilical venous and arterial plasma insulin. A statistically significant correlation between glucose and insulin is only demonstrable in the maternal blood. Glucagon levels are about the same in maternal and umbilical arterial blood, but are significantly higher in umbilical venous blood. These results are consistent with the supposition that insulin and glucagon do not cross the placenta to a significant extent and can be synthesised by the foetus. In the first few hours after birth, a fall of glucose and a rise in FFA occur at the same time. Insulin tends to be lower than at birth and glucagon rises.

Blood Glucose↗

PubMed1976