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Biomedical subjects

J V Higgins

Publications and source records attributed to J V Higgins.

At least 55 records · Page 3Linked to original sources
PubMed1983

Medical practice and genetics in the mid-Michigan area.

In this report the authors provide information on the knowledge of and attitudes on genetics of allopathic and osteopathic physicians of the Mid-Michigan area. The type of degree (M.D. or D.O.) made no difference with respect to physicians' knowledge of genetics, while their specialty and year of graduation from medical school each had a significant impact on the physicians' genetic performance. Although there are important differences by specialty area, the average score on a multiple-choice genetic knowledge test was approximately 50 percent correct. Respondents were more likely to indicate a lack of knowledge than to choose an incorrect answer, but the overall level of knowledge was low. Ninety-two percent of the respondents stated that their present knowledge was inadequate and preferred continuing medical education courses and case-related conferences to increase their knowledge.

Adult↗
PubMed1981

Familial occurrence of congenital pulmonary lymphangiectasis. Genetic implications.

Congenital pulmonary lymphangiectasis (CPL) is a rare, generalized disease of the lung, consisting of lymphatic cysts in the subpleural and interlobular connective tissue. This disorder typically manifests a clinical picture of acute respiratory distress with cyanosis shortly after birth, with death occurring in the neonatal period. Several cases of this disorder have been described in the literature, but there has been no family with more than one affected child. We report the first instance, to our knowledge, of familial cases of CPL, which raises an important question regarding a possible genetic component in this disorder. The implications of this are discussed.

Female↗
PubMed1980

Omphalocele in half-siblings.

A family is described in which half-siblings, a boy and a girl born to unrelated mothers and a phenotypically normal father, were affected with omphalocele. The suggested mode of transmission remains unclear. Prenatal diagnosis to detect an affected fetus should be offered to relatives of omphalocele-affected individuals.

Child, Preschool↗
PubMed1979

Cytogenetic and clinical studies in five cases of inv dup(15).

Inv dup(15) is a clinically significant bisatellited derivative of chromosome 15. Five unrelated patients with this abnormality are described and compared with ten confirmed and nine suspected cases in the literature. Mental and developmental retardation, hypotonia, behavioral disturbances, seizures, abnormal dermatoglyphics, and mild somatic anomalies were the most consistent findings. The extra chromosomes in our patients were identified with the aid of various techniques, including distamycin A/DAPI banding. A comparison of satellite polymorphisms suggested that the rearrangements frequently arose by meiotic nonsister chromatid exchange and second-division nondisjunction. A maternal origin was indicated in two cases, and parental ages were distinctly elevated.

Abnormalities, Multiple↗
PubMed1978

Partial tetrasomy 9 in a liveborn infant.

An unusual rearrangement of chromosome 9 was identified in a male infant with multiple congenital malformations. The rearrangement appeared as a fusion of two number 9 chromosomes with similar long-arm breakpoints. Since the infant also possessed two normal 9's, the presence of the additional chromosome resulted in partial tetrasomy; 47,XY, + tdic(9;9)(q22;q22). Clinical and autopsy examinations revealed many features reminiscent of trisomy 13. The tdic was functionally monocentric, although some evidence of activity at the second centromere was observed. Both parents had normal karyotypes, and C-banding demonstrated that at least one of the 9h regions on the tdic was likely to be of maternal origin.

Abnormalities, Multiple↗
PubMed1977

A syndrome of microcephaly and cataracts in four siblings. A new genetic syndrome?

We describe a syndrome of microcephaly, with extreme failure to thrive, (severe spasticity), kyphoscollosis, cataracts, and hip dysplasia in four siblings. The syndrome could be a new one, although it has several features resembling those described by Lowry et al. It is suggested that this syndrome is inherited as an autosomal-recessive condition.

Adult↗
PubMed1977

Mosaicism presumably related to a Y/6 translocation in a boy with multiple congenital abnormalities.

A 3 1/2-year-old boy was referred for chromosomal evaluation because of mental and developmental retardation, peculiar facies, and abnormalities of the extremities. Karyotype analysis disclosed the presence of 46 and 47 chromosome cell lines. The 46 chromosome line contained 4 normal G group chromosomes and an abnormally small Y identified by G banding. Further investigation with Q and C band techniques revealed that the missing segment of the Y, the distal long arm, had been translocated to the end of the long arm of a number 6 chromosome. This de novo rearrangement appeared to be balanced and was found in all cells examined. The 47 chromosome line, which had a frequency of 10% in the patient's leucocytes, was identical to the 46 line except for the presence of an additional copy of the small chromosome. The morphology and banding patterns of the two small acrocentrics in the aneuploid line were found to correspond to those of the der (derivative) Y in the euploid line. The cytogenetic findings suggest that the translocation was followed by non-disjunction of one of its products resulting in mosaicism. Possible causes for the clinical and karyotypic abnormalities are discussed.

Abnormalities, Multiple↗
PubMed1977

An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.

An infant with peculiar facies, coloboma of both eyes, and developmental retardation was found to have d de novo interstitial deletion of the secondary constriction and some adjacent euchromatin on one of her No. 9 chromosomes, del(9)(q11q21). Since studies on duplications, variants, and the molecular composition of the secondary constriction suggest that it contributes little if any information necessary to normal development, deletion of the euchromatin alone is most probably responsible for the clinical findings.

Abnormalities, Multiple↗
PubMed1977

Ovarian dysgenesis due to 45 X, 0/46 dic (X) mosaicism.

A 16 year old girl was evaluated for short stature, primary amenorrhea, and lack of development of secondary sex characterisics. She did not have the classical phenotypic signs of Turner's syndrome. However, she was short, had infantile genitalia and the adnexa were not palpable. There was a minor bone malformation and no signs of visceral abnormalities. The hormonal studies showed hypergonadotropic hypogonadism and borderline hypothyroidism. The rest of the endocrine functions was normal. The Barr bodies on the buccal smear were decreased and in part abnormal, large or bipartite. The karyotype showed mosaicism of about equal proportions of 45 X, 0/46, X, dic (X). The large dicentric chromosome was due to the end to end fusion of two X chromosomes by their short arms. Sequential binding studies were performed and failed to document any loss of genetic material of the dicentric X. It is speculated that the fusion of X chromosomes during an early mitotic division was responsible for the 45 X, U cell line, and that the short stature and gonadal dysgenesis in this patient was due to the presence of the 45 X, 0 line.

Adolescent↗
PubMed1976

Metabolism of alpha-aminoadipic and alpha-ketoadipic acids: studies using rat and beef liver, and human leukocytes.

The reported studies have shown that alpha-DL-amino [1-14C]adipic acid is metabolized to radioactive alpha-ketoadipic acid and then to 14CO2 in rat and beef liver homogenates. It was also demonstrated that alpha-keto [1-14C]adipic acid is decarboxylated to 14CO2. The effects of several co-factors and other variables, i.e. alpha-ketoglutarate, pyridoxal phosphate, NAD, thiamine pyrophosphate (TPP), FAD, LA, and pH have also been delimited. These reactions and the effects of the co-factors were also established in freshly drawn leukocytes. Using the methods outlined, a technique for studying the metabolism of alpha-amino-adipate and alpha-ketoadipate in the leukocytes from 10 ml of blood was developed.

2-Aminoadipic Acid↗
PubMed1975

Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation.

Our studies of a mentally retarded male with extremely elevated levels of alpha-aminoadipic acid and alpha-ketoadipic acid in his urine have led to the description of a new metabolic defect, alpha-ketoadipic aciduria. Analysis of the urine and serum from the patient's family revealed that the patient (KW) had a mentally and physically normal sister (CW) with the same metabolites elevated, but the rest of the family appeared normal.

Adipates↗