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Biomedical subjects

M R Seashore

Publications and source records attributed to M R Seashore.

At least 37 records · Page 2Linked to original sources
PubMed1988

Prenatal findings in a case of spondylocostal dysplasia type I (Jarcho-Levin syndrome).

We report the first prenatal identification using ultrasound of a fetus affected with spondylocostal dysplasia type I, or Jarcho-Levin syndrome, in a patient without a positive family history for this condition. The fetus was initially evaluated because of a low maternal serum alpha-fetoprotein determination. At 23 weeks, we visualized a shortened spine, disorganization of the vertebral bodies, posterior fusion of the ribs, and normal long-bone biometry. Termination of pregnancy was elected. All features identified with ultrasound were confirmed postnatally. The fetus was affected with Jarcho-Levin syndrome, a recessively inherited condition associated with a 25% recurrence rate.

Adult↗
PubMed1987

Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases.

The molecular nature of the glycine cleavage system was investigated in eight patients with typical (neonatal) and two patients with atypical (late onset) nonketotic hyperglycinemia (NKH). The overall activity of the glycine cleavage system was found to be decreased in all of the liver and brain tissue studied, but it was undetectable or extremely low in typical NKH, whereas there was some residual activity in atypical NKH. Six patients with typical NKH had a specific defect in the P protein, and one a defect in the T protein; the activity of the T protein was defective in one patient with atypical NKH.

Amino Acid Oxidoreductases↗
PubMed1987

Familial apple peel jejunal atresia: surgical, genetic, and radiographic aspects.

Fifty-seven cases of apple peel jejunal atresia have been reported in the English literature. Patients with this anomaly have a high incidence of prematurity (70%), malrotation (54%), short gut syndrome (74%), multiple atresias (15%), complications (63%), and mortality (54%). Mortality has decreased from 63% to 47% since 1970. We report three new cases of apple peel jejunal atresia, including two from one family. Radiographic evidence of high small bowel obstruction and a malrotated microcolon on preoperative roentgenogram with barium enema should suggest this diagnosis. Five families, including ours, have been reported in which more than one child was affected, and it has been suggested that this disorder is transmitted by an autosomal recessive gene. However, the occurrence of conventional intestinal atresia in other siblings, the association with multiple atresias, and discordance in a set of apparently monozygotic twins indicate that there may be a more complex spectrum of genetic transmission. Subsequent siblings are at increased risk for apple peel atresia or related malformations. Prenatal ultrasound can facilitate early diagnosis and treatment.

Anastomosis, Surgical↗
PubMed1985

Loss of intellectual function in children with phenylketonuria after relaxation of dietary phenylalanine restriction.

Fourteen patients with classic phenylketonuria (PKU) were treated with a phenylalanine restricted diet from early infancy. All had satisfactory dietary control, with serum phenylalanine concentrations ranging between 2 to 5 mg/dL. Dietary restriction was discontinued in all these children between ages 5 and 6 years, and a free diet allowed. Developmental testing was performed using the Cattell Infant Intelligence Scales (1 to 2 years), Stanford-Binet Intelligence Scale (2 to 4 years), Wechsler Intelligence Scale for Children (WISC) and the revised version (WISC-R) (less than 5 years). Mean IQ for the group (Stanford-Binet and WISC) at termination of dietary therapy was 104 +/- 13. Four to 7 years after discontinuation of dietary therapy, mean IQ for the group was 90 +/- 13. The severity correlated, to some degree, with duration of unrestricted diet, but not with initial serum phenylalanine concentrations, age at initiation of therapy, or IQ at time diet was discontinued. Several children are experiencing difficulties, both attentional and academic, in school. Two children have had a change in the EEG from normal to abnormal. Neurologic testing performed after 4 to 7 years off diet demonstrated deficits in visual-motor integration or cognitive problem-solving in most children. The mean developmental age for the group for perceptual-motor integration was 1.2 years below the mean chronologic age of the group. This deterioration in intellectual function suggests that discontinuation of the phenylalanine-restricted diet is hazardous for some children with classic phenylketonuria.

Adolescent↗
PubMed1984

Human genetics of the abdominal aortic aneurysm.

The results of recent studies suggest that genetic factors may be important in the pathogenesis of abdominal aortic aneurysms. In the present report, the apparent mechanisms of inheritance in 16 families with a total of 41 affected individuals are summarized. The results suggest that there may be both X-linked and autosomal dominant forms of the disease, with the X-linked variant as the more common type. A multifactorial mechanism cannot be ruled out from the results of the present data.

Aged↗
PubMed1984

Overwhelming sepsis in the adult variant of Wiskott-Aldrich syndrome.

Two brothers with a variant form of Wiskott-Aldrich syndrome suffered episodes of severe bacterial infection commencing in their fourth decade of life. One man died of overwhelming pneumococcal infection. This study emphasizes (1) the importance of recognizing the variant form of Wiskott-Aldrich syndrome in male adults with thrombocytopenia and (2) the treatment of these patients with prophylactic antibiotics.

Adult↗
PubMed1981

Complete trisomy 9 in two liveborn infants.

Two unrelated newborn infants with multiple malformations were found to have complete trisomy 9 in all cells examined. In both, the phenotype was similar, consisting of characteristic facial appearance (microphthalmia, bulbous nose, micrognathia, cleft palate, low set ears), skeletal abnormalities (dislocated joints, flexion contractures of the fingers), cardiovascular malformations (persistent left superior vena cava, ventricular septal defect), hypoplastic genitalia, renal anomalies, and central nervous system malformations. Both died during the first few hours of life. Comparison of these two infants with the previously reported cases reveals a consistent pattern of malformations and very short survival associated with trisomy 9. These cases illustrate the importance of doing chromosome studies on infants with congenital malformations dying in the newborn period and the usefulness of such studies in counselling parents regarding the risk of recurrence.

Abnormalities, Multiple↗
PubMed1980

Detection of phenylketonuria in autistic and psychotic children.

Sixty-five children with pervasive developmental disturbance (autism and atypical childhood psychosis) were screened by standard urinary amino acid detection testing methods. Three of the children showed abnormalities in these screening tests, leading to the diagnosis of phenylketonuria. This was verified by repeated urinary testing and blood phenylalanine determinations. The children with phenylketonuria were treated with low-phenylalanine diets and have shown improvement in functioning and developmental level since treatment. Urinary genetic screening should be a standard test for all children being evaluated for serious developmental disturbances of childhood.

Amino Acids↗
PubMed1977

7q deletion syndrome (7q32 leads to 7qter).

Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46,XX or XY, del(7)(q32); 46,XX or XY,del(7)(pter leads to q32:)). Comparison of the findings of these four cases with one other case report of a similar deletion revealed similar dysmorphologic features in all five cases.

Abnormalities, Multiple↗