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Biomedical subjects

K M Saxena

Publications and source records attributed to K M Saxena.

At least 19 recordsLinked to original sources
PubMed1995

Telomeres of higher primates.

The telomeres of gorilla, chimpanzee and human peripheral blood cells have been examined by hybridization to an oligonucleotide probe, (TTAGGG)4, following conventional and pulsed-field electrophoresis procedures. The MspI site present near the chromosome terminus undergoes methylation in gorilla, chimpanzee and human genome as shown by the HpaII digestion. Minor (TTAGGG)4-hybridizing sequences have been also detected in the chimpanzee HindIII and MspI digests.

Animals↗
PubMed1986

Empty sella syndrome in an adolescent.

Empty sella syndrome (ESS) is a condition in which the sella turcica is partially or completely filled with cerebrospinal fluid resulting in a displacement of the normal pituitary. The condition is more common and benign in adults, although associated endocrine abnormalities have been reported. In children and adolescents, the syndrome is rare (27 reported cases), and the clinical picture is much less benign, with an increase in familial incidence, associated skeletal disorders, and endocrine abnormalities. Definitive diagnosis can be made by CT scan of the head. Our case report is of an adolescent who appeared clinically to have growth retardation and normal endocrine function. The CT scan of the head was compatible with ESS. Further follow-up showed improved growth rate. Although our patient did not appear to have symptoms related to ESS, based on the literature we agree that this syndrome is much less benign in children and adolescents than in adults.

Brain↗
PubMed1984

Adrenoleukodystrophy: clinical and biochemical manifestations in carriers.

We studied 21 women from four definite adrenoleukodystrophy (ALD) kinships . Nine women had a spastic paraparesis, including two with peripheral neuropathy. Fifteen women were assigned heterozygote status based on abnormal very-long-chain fatty acid ( VLCFA ) concentrations in plasma, fibroblasts, or both. These 15 included those with abnormal examinations and all women judged to be carriers by clinical criteria. Some ALD heterozygotes have varying degrees of neurologic disease, usually spastic paraparesis. Carrier detection is possible by determination of VLCFA concentrations in plasma and cultured skin fibroblasts. Any woman at risk in an ALD kinship, and who demonstrates a spastic paraparesis, should be assumed to be a carrier until biochemical testing is obtained. To determine whether a woman is an ALD carrier, measurement of plasma VLCFA levels should be done initially. If this gives normal or equivocal results, VLCFA levels should be measured in cultured skin fibroblasts.

Adolescent↗
PubMed1982

Familial X-linked Addison disease as an expression of adrenoleukodystrophy (ALD): elevated C26 fatty acid in cultured skin fibroblasts.

Adrenoleukodystrophy (ALD) is a fatal X-linked disorder of very long chain fatty acid (VLCFA) metabolism manifested by disease of the central and peripheral nervous systems and the adrenals. X-linked Addison disease alone, as an expression of ALD, has not been previously reported. We present the results of our study of a unique family among whom clinically apparent Addison disease without neurologic involvement has occurred in affected males, and spastic paraparesis has occurred in female carriers. The presence of ALD was confirmed by VLCFA determination in cultured skin fibroblasts. A comparison group of patients with Addison disease on a putative immunopathogenic basis was normal.

Addison Disease↗
PubMed1977

Computed tomography of the head in children: experience with 1024 scans performed in an outpatient facility.

Our experience in 1,024 computed tomography examinations of the head in 954 infants and children performed in a private office is reported. Immobilization in infants was achieved using relatively large dosages of chloral hydrate (as high as 75 mg/kg) supplemented, when necessary, by I.M. Benadryl. The usual dose of chloral hydrate recommended for children is 25 mg/kg as a sedative and 50 mg/kg as a hypnotic. Satisfactory immobilization was accomplished in 350 of the 360 children under 6 years of age. Thus, routine general anesthesia was avoided. The wide spectrum of conditions demonstrated has been tabulated and selectively illustrated.

Adolescent↗