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Biomedical subjects

H Zellweger

Publications and source records attributed to H Zellweger.

At least 55 records · Page 3Linked to original sources
PubMed1976

Protein synthesis in muscle cultures from patients with Duchenne muscular dystrophy. Calcium and A23187 ionophore dependent changes.

Muscle samples for cultures were obtained from the quadriceps by open biopsy under local anesthesia in five patients with early stage of Duchenne muscular dystrophy (DMD) and 10 controls. Primary cultures were grown in Eagle's Minimum Essential Medium (MEM) with 20 per cent fetal calf serum. After 4 weeks, cells were trypsinized, counted, subcultured for 5 days in MEM with 5 per cent horse serum and finally incubated for 4 h with (3H) leucine. Ttal protein synthesis showed a significant decrease (half of control values) only in muscle cultures from patients with DMD. Addition of calclium chloride alone or with A23187 ionophore normalized this defect in protein synthesis. By contrast, myosin heavy chain synthesis was measured and found normal in all paitents.

Anti-Bacterial Agents↗
PubMed1976

The problem of trisomy 22. A case report and a discussion of the variant forms.

A case of trisomy 22 with partial long arm deletion (47, +22 q-) studied by G-banding is presented. The patient, a five-month-old male, showed failure to thrive, delayed psychomotor development, large, low-set ears, mild micrognathia, atrial septal defect, and marked muscular hypotonia. The father's karyotype was normal. The mother's karyotype was 46 XX, but one of the no22 chromosomes showed a deletion of the long arm as seen in the proband's karyotype. A comparison with previously reported cases in the literature indicates a great variability of clinical features of trisomy 22: "classical form," cat eye syndrome, and abortive cases (as this reported case).

Abnormalities, Multiple↗
PubMed1975

The short arm deletion syndrome of chromosome 4 (4p- syndrome).

Partial deletion of the short arm of chromosome 4 (4p-) represents another (rare) cause of cleft lip and cleft palate. Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias. Life expectancy is often shortened. The 4p- syndrome has many features in common with another deletion syndrome, the cri-du-chat syndrome, and also with the Smith-Lemli-Opitz syndrome. The latter is a hereditary condition with normal karyotype. The cri-du-chat syndrome is characterized by a peculiar high-pitched, mewing cry and can be differentiated from the Wolf syndrome by the different staining characteristics (banding) of chromosomes 4 and 5.

Abnormalities, Multiple↗
PubMed1975

Gastric bypass for morbid obesity in children and adolescents.

This report reviews 25 patients 20 yr of age or younger who were treated for morbid obesity by gastric bypass or gastroplasty. Eighteen genetically normal obese adolescents averaged 15% body weight loss 6 mo after operation and 25% weight loss 36 mo postoperatively; the eight males lost more weight than did the ten females. Seven younger children had Prader-Willi syndrome; six of them lost weight postoperatively although not so dramatically as the genetically normal obese patients. Four patients required later revisions to reduce the size of the gastric pouch or stoma. These operations were performed with acceptable morbidity and no mortality. Growth in height was not interrupted and no metabolic problems were encountered postoperatively. Gastric bypass is a safe and effective method of controlling body weight in morbidly obese children and adolescents.

Adolescent↗
PubMed1975

Cardiac manifestations of the mucopolysaccharidoses.

The cardiovascular manifestations of the mucopolysaccharidoses (MPS) have not been well characterized. We studied nine children with various forms of MPS, using noninvasive cardiac diagnostic techniques. The echocardiograms of two brothers with Type I H/S MPS showed slow mitral valve early diastolic closure velocities (MVEDC) (18, 29 mm/sec) consistent with mitral stenosis. Each had a soft opening snap, low frequency presystolic murmurs and X-ray evidence of calcific mitral stenosis. Three patients with Type II A MPS had echocardiographic evidence of impaired left ventricular function, suggesting the presence of myocardial damage. One of these had an abnormal electrocardiogram; non had murmurs. No cardiac abnormalities were discovered in two patients with Type III A and IV MPS. One patient with Type VI A MPS had presystolic, holostolic and early diastolic murmurs. A soft opening snap was recorded. The echocardiogram showed a slow MVEDC (18 mm/sec) and a slightly enlarged left atrial dimension (2.2 cm/m2). In summary, noninvasive studies are useful in evaluating patients with MPS. Type I H/S and Type VI A patients may show evidence of valvular deformity, the former associated with mitral valvular calcification and the latter with both aortic and mitral valve involvement. Type II A patients have muscle function abnormalities and Type III A and IV are shown by noninvasive methods to be free of cardiovascular abnormalities.

Adolescent↗
PubMed1975

Newborn screening for Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) occurs in about 1 of 3,000 to 4,000 boys. Laboratory evidence of the disease, notably elevated creatinephosphokinase (CPK), is present already in the newborn infant. Unspecific CPK elevation occurs in the newborn as well, yet disappears shortly thereafter, while in DMD patients the CPK remains high throughout infancy. A new method to reliably determine CPK in a drop of dried blood is described. The method fulfills the criteria given for a suitable screening method in the newborn infant. Although DMD is an incurable disease, early diagnosis has benefits. The latter include early beginning of supportive treatment and particularly recognition of heterozygous carriers of the mutant gene before other affected children are born in a stricken family. It is proposed to adopt the method as a new screening procedure for male newborn infants.

Adenosine Diphosphate↗
PubMed1975

Trisomy 22.

The existence of a trisomy 22 has been definitely established by newer methods of karyotype analysis which permit distinction between the acrocentric chromosomes of group G. Trisomy 22 is much rarer than trisomy 21. This report presents presumptive evidence that the cat eye syndrome (CES), the so-called "trisomy 22" (T22), the intermediate cases (IM) with cardinal symptoms of CES and T22, and some cases of mental retardation with rather unspecific symptoms are variants of the same disease entity. For T22, CES and one abortive case the extra chromosome was clearly identified as number 22 chromosome with or without partial deletion of the long arm. An interesting and presently not fully understood feature of trisomy 22 is its frequent familial incidence.

Abnormalities, Multiple↗
PubMed1975

Trisomy 22.

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Chromosomes, Human, 21-22 and Y↗
PubMed1974

Effect of coenzyme Q on serum levels of creatine phosphokinase in preclinical muscular dystrophy.

Coenzyme Q(10) (CoQ(10)) exists in human tissue, and is indispensable to mitochondrial enzymes of respiration. CoQ was administered to children with preclinical muscular dystrophy, CoQ enzymology was emphasized, and serum creatine phosphokinase, CPK, (ATP:creatine N-phosphotransferase, EC 2.7.3.2) was repeatedly monitored.A 40-week treatment of an infant, 1-2 years of age, reduced serum CPK (P < 0.001; total CPK assays, 76). A 40-week treatment of a boy, 3-5 years of age, reduced serum CPK (P < 0.01); treatment through 80 weeks reduced CPK (P < 0.001; total CPK assays, 118). This response of preclinical dystrophy to CoQ implies a deficiency of CoQ in skeletal muscle that was actually found previously by assay of the activity of the succinate dehydrogenase:coenzyme Q(10) reductase of the rectus abdominis. The relationships among a CoQ deficiency in muscle, serum CPK, and use of CPK in muscle are uncertain; however, restoration of CoQ enzyme activity in muscle by oral administration of CoQ could lead to increased use of CPK in muscle to form phosphocreatine from creatine and ATP, with a corresponding decrease in serum levels of CPK. The great excess of CPK in serum comes from deteriorating muscle in which CPK is below normal.

Child, Preschool↗