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Biomedical subjects

B G Kousseff

Publications and source records attributed to B G Kousseff.

At least 73 records · Page 4Linked to original sources
PubMed1984

Angioid streaks associated with hereditary spherocytosis.

We examined members of a family in whom hereditary spherocytosis had appeared in three generations. Angioid streaks were confirmed in the second generation and presumed to exist in the first generation. A woman in the third generation with hereditary spherocytosis did not have angioid streaks but these are age-related and may develop later. The one individual in the second generation without hereditary spherocytosis did not have angioid streaks. Angioid streaks associated with hereditary spherocytosis in this family did not appear to be coincidental. Patients with hereditary spherocytosis should be examined for angioid streaks because of the implications for their vision.

Adult↗
PubMed1984

Cryptorchidism in mental retardation.

We surveyed 148 institutionalized male subjects to study the prevalence of cryptorchidism among mentally retarded individuals. Of the patients 121 (81.7 per cent) were profoundly (intelligence quotient 19 or less), 21 severely (20 to 35), 5 moderately (36 to 51) and 1 mildly (65) retarded. Patient age ranged from 1 to 36 years (mean 13.6 means). According to the etiology of the mental retardation the cases were classified into 6 categories: chromosomal aberrations, single gene disorders, polygenic conditions, teratogen-induced anomalies, perinatal/postnatal injuries and idiopathic mental retardation. Cryptorchidism was found in 44 individuals (39.7 per cent), and was bilateral 3.4 times more often than unilateral. Cerebral palsy occurred in 88 patients. There were 36 patients with cryptorchidism and cerebral palsy, representing 41 per cent of the patients with cerebral palsy and 81.8 per cent of the cryptorchid group (p equals 0.0006). Among the noncryptorchid male subjects 52 (50 per cent) had cerebral palsy. Epilepsy also was more frequent in the cryptorchid group (p equals 0.0333). The cryptorchid and noncryptorchid groups did not show a significant difference in the etiology of mental retardation except in the perinatal/postnatal category in which cryptorchidism was more frequent (p equals 0.025), and in the polygenic category in which all 9 patients were noncryptorchid. This study shows a high prevalence of cryptorchidism in individuals with profound and severe mental retardation, and particularly in those having cerebral palsy.

Adolescent↗
PubMed1984

Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait.

Three of four siblings had sacral meningocele with subsequent development of hydrocephaly; two died during the neonatal period due to conotruncal heart defects (transposition of the great vessels and truncus arteriosus type I, respectively). An in utero diagnosis of open neural tube defect was made on the third sibling; persistent slightly elevated alpha-fetoprotein levels in amniotic fluid and increased number of rapidly adhering cells in short term amniotic cell culture were found. The unique combination of sacral meningocele and conotruncal malformations in this sibship suggests a new autosomal recessive condition. It also emphasizes the heterogeneity of both the open neural tube defects and congenital heart defects. Awareness of this variant is necessary in regard to the 25% recurrence risk instead of the 3% to 5% recurrence risk given for both congenital heart defects and open neural tube defects as isolated anomalies. The difficult prenatal diagnosis for the small neural tube defect should be appreciated.

Female↗
PubMed1983

Acanthosis nigricans in a patient with streak gonads.

Acanthosis nigricans (ACN) is associated with ovarian disorders or abnormalities of carbohydrate metabolism. We saw a 21-year-old woman who had primary amenorrhea and ACN. Results of endocrine studies showed anovulation and low serum estradiol levels with increased gonadotropin concentrations. Laparoscopic examination disclosed bilateral streak gonads; the ovaries were completely replaced by fibrous tissue. Cultures of peripheral lymphocytes, skin fibroblasts, and the right and left ovaries demonstrated normal female karyotype 46XX in all mitoses studied. An autoimmune disorder was excluded by the absence of antithyroid and antiadrenal antibodies. Specific antibodies against ovarian proteins were also absent. A glucose tolerance test demonstrated fasting hyperinsulinemia and exaggerated serum insulin response to the glucose load. The observations in this patient exclude a primary pathogenic role for the ovary in the production of ACN; they also lend further support to a connection between the cutaneous disorder and insulin resistance.

Acanthosis Nigricans↗
PubMed1982

The cytogenetic controversy in the Prader-Labhart-Willi syndrome.

A patient with Prader-Labhart-Willi syndrome (PLWS) was found to have mosaic partial trisomy 15: 46,XY/47,XY, + del(15) (pter leads to q1.3:) in both lymphocytes and fibroblasts. Thus, another novel aberration is added to the spectrum of chromosome abnormalities seen in this syndrome. The spectrum includes deletion of the short arm of chromosome 15, interstitial deletion of 15q1.2, inverted duplication of 15p (tetrasomy 15p), partial trisomy 15 different from that encountered in this patient, and a variety of aberrations involving other chromosomes. A hypothesis that the chromosome aberrations are due to a presumed gene for the PLWS may have merit and could be tested in the laboratory by exposing chromosomes of patients with PLWS to mutagens to search for secondary chromosome derangements.

Adult↗
PubMed1982

Incomplete differentiation of Wolffian structures: a form of Kallmann's syndrome?

We have reported a sibship in which all three males had azoospermia and a normal 46,XY karyotype. The mechanisms for the production of azoospermia were Kallmann's syndrome and bilateral agenesis of the globus major (head of the epididymis) in the proband and bilateral agenesis of the vasa deferentia and seminal vesicles in the two brothers. It is suggested that this syndrome of agenesis of the testicular excretory system may be a variant of Kallmann's syndrome.

Adult↗
PubMed1982

Autosomal recessive type of whistling face syndrome in twins.

A report of concordant monochorionic, diamnionic like-sex twins with whistling face syndrome is presented. The diagnosis was based on the characteristic facies with prominent supraorbital ridge, sunken eyes, telacanthus, short nose and colobomata of the nostrils, long philtrum, high narrow palate, and marked microstomia with puckered lips and an "H"-shaped cutaneous dimpling on the chin. The hands showed symmetrically clenched fingers with camptodactyly and ulnar deviation. The feet demonstrated mild bilateral talipes equinovarus. HLA studies to determine the zygosity of the twins showed discordance in HLA haplotypes, which indicated dizygosity. The pedigree analysis showed normal nonconsanguineos parents, and no other family members had the syndrome. The findings support the existence of an autosomal recessive type of whistling face syndrome.

Abnormalities, Multiple↗