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Biomedical subjects

F A Ziter

Publications and source records attributed to F A Ziter.

At least 37 records · Page 2Linked to original sources
PubMed1979

Epidemiology of myelomeningocele in Utah.

This study suggests that in the Intermountain area of the United States (Utah, Wyoming, Idaho and Montana) there is an effect of social class on the incidence of myelomeningocele: the higher the social class the less the incidence. This survey also suggests that there is an influence from the social class in which the mother was raised, as well as that into which she marries. Birth order and maternal age were found to have no influence on the incidence of myelomeningocele in this study.

Birth Order↗
PubMed1979

Manual fluorometry of phenylalanine from blood specimens collected on filter paper: a modified procedure.

In this manual fluorometric method, blood samples are used that have been impregnated on the filter paper, a convenient collection technique that is widely used to screen newborns for phenylketonuria. The modified procedure, based on the method of McCaman and Robins [J. Lab Clin. Med. 59, 885 (1962)], includes elution of phenylalanine from specimens on filter paper, removal of proteins by precipitation with trichloroacetic acid at 0 degrees C, and then reaction with ninhydrin-peptide reagent for color development. The standard curve is linear to at least 200 mg/L and the CV is 6.3% for a phenylalanine concentration of 27 mg/L. The modified procedure is suitable both for early screening for phenylketonuria and for monitoring blood phenylalanine of phenylketonurics during dietary therapy.

Blood Specimen Collection↗
PubMed1978

Defective neutrophil function in myotonic dystrophy.

Polymorphonuclear leukocytes (PMNs), obtained from 10 patients with myotonic dystrophy and 39 age-matched controls, were tested for chemotactic activity, chemiluminescence (CL), and phagocytosis. PMNs from 8 of the 10 patients had depressed chemotactic indexes (30 +/- 23) as compared to controls (61 +/- 18) (P less than 0.0003), and 6 of the 10 patients' PMNs produced lower peaks in CL (less than 90%) than those of controls. Phagocytosis and bactericidal activity were evaluated in 7 patients and were normal. Control PMNs incubated in patient serum produced normal chemotactic activity and CL. These results indicate defects in 2 PMN membrane-associated activities in myotonic dystrophy and suggest that the PMN is affected by the generalized membrane abnormality underlying myotonic dystrophy.

Adolescent↗
PubMed1978

Serum creatine phosphokinase and pyruvate kinase in neuromuscular disorders and Duchenne dystrophy carriers.

Serum levels of creatine phosphokinase (CPK) and pyruvic kinase (PK) were determined in 42 controls, 57 patients with various neuromuscular disorders, and 23 female relatives of Duchenne dystrophy patients. CPK and PK enzyme activities were increased in comparable numbers of muscle disease patients and female carriers; there was no advantage in the combined use of the two tests. We did not confirm earlier reports suggesting that determination of PK is more valuable than CPK in carrier detection.

Adolescent↗
PubMed1977

Childhood gastroesophageal reflux. Neurologic and psychiatric syndromes mimicked.

Thirteen infants and children with proved gastroesophageal (GE) reflux had complaints that suggested a CNS disorder. Symptoms began in early infancy in ten cases, but accurate diagnosis and proper treatment were not instituted in three cases until three to five years of age. A CNS basis for their disease was suspected because they exhibited specific signs or because the importance of associated gastrointestinal (GL) and respiratory tract symptoms was not appreciated. The presenting CNS symptoms and signs included dystonia in 11, developmental retardation in ten, dysphagia in nine, seizures in six, and extreme irritability in ten. We believe that the diagnosis of symptom-causing GE reflux is being missed regularly. The effects of proper medical or surgical therapy are often dramatic, and the consequences of missed diagnosis or improper treatment are potentially lethal.

Age Factors↗
PubMed1977

Rigid spine syndrome. A type I fiber myopathy.

The rigid spine syndrome is an unusual disorder characterized by nonprogressive mild axial and proximal muscle weakness, flexion contractures of the neck and spine, scoliosis, and joint contractures. The biopsy specimen from the patient described in this report shows type I fiber hypotrophy and predominance. This contrasts with previous reports that describe connective tissue proliferation as the major histologic abnormality.

Adolescent↗
PubMed1977

Three-generation pedigree of a Möbius syndrome variant with chromosome translocation.

We report the clinical and cytogenetic data on seven members of a family, spaning three generations, who showed congenital facial diplegia and finger contractures. Each affected member showed an identical chromosome abnormality, reciprocal translocation between chromosome 1 and 13. The concurrence of the clinical and cytogenetic defect in this family suggests a direct and possibly etiologic relationship.

Adult↗
PubMed1977

Bony and vascular anomalies of the head. Their possible relation to anencephaly.

This study links a midfacial anomaly in an 8-year-old boy, with underlying bony skull defects and abnormalities of the cerebral vasculature, with an earlier spontaneous miscarriage and the subsequent birth of a frankly anencephalic sibling. We believe that the midfacial and vascular anomalies in the second child could represent a forme fruste of anencephaly, which should alert the physician to monitor subsequent pregnancies for the complete anencephalic phenotype.

Abnormalities, Multiple↗
PubMed1977

Assessment of muscle strength in Duchenne muscular dystrophy.

Muscle strength in 23 patients with Duchenne dystrophy was tested against gravity and manual resistance during an 8-year period. The data show striking linearity in rate of loss of strength with age for any given patient. The tempo does not appear altered during growth spurts, bracing, or loss of ambulation. Variability in disease severity was documented clearly by 7 years of age and appears to be related to earlier age at onset of symptoms. This long ignored method of muscle strength assessment provides a precise measure of disease progression and, since the technique is widely used by physical therapists, it should be incorporated in clinical studies and therapeutic trials.

Age Factors↗
PubMed1977

Fibromuscular dysplasia as a cause of stroke in infancy and childhood.

Two children had abrupt onset of hemiplegia due to childhood fibromuscular dysplasia (FMD). Although FMD is a recognized cause of strokes in adults, the disorder has not, to our knowledge, been reported previously in children. Our report reviews the pathology and diagnosis of FMD and discusses the complexities of its treatment.

Cerebrovascular Disorders↗