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Biomedical subjects

B A Buehler

Publications and source records attributed to B A Buehler.

36 records · Page 2Linked to original sources
PubMed1987

Acephalus-acardia in twins with aneuploidy.

Since 1963, 11 cases have been reported in which both the acardiac twin and the "normal" co-twin were studied cytogenetically. Aneuploidy or polyploidy was clearly identified in the acardiac twin in 7 cases and in the co-twin in 1 case. We report on 2 additional twin pairs in which aneuploidy was associated with acephalus-acardia. In both cases the "normal" co-twin had a Klinefelter (47,XXY) karyotype. Chromosome analysis in the 2 acardiac twins documented a 47,XXY constitution in one and 94,XXXXYY anomaly in the other. One of the "normal" co-twins also had the VATER association. Given these data we would recommend chromosome analysis of both members of a twin pair when one has acephalus-acardia.

Abnormalities, Severe Teratoid↗
PubMed1987

Familial aortic dissection in absence of ascending aortic aneurysms: a lethal syndrome associated with precocious systemic hypertension.

The interaction of elevated blood pressure and aortic metabolism in the genesis of aortic dissection is uncharacterized. A kindred with fatal familial aortic dissection in association with precocious systemic hypertension and in absence of a definable connective tissue syndrome has undergone genealogical, clinical, pathological, and biochemical evaluation. Six family members spanning three generations have died of acute dissection. Five men died at a mean age of 28 years (range 22-34), while the proband's paternal grandmother died at 62 years of age. All were hypertensive. A constellation of subtle clinical features points toward deficient integrity of connective tissues; however, major hallmarks of known connective tissue syndromes including aortic root ectasia or aneurysms are absent. Studies of cultured dermal and aortae fibroblasts of two of the proband's brothers mitigate against Ehlers-Danlos IV syndrome. This family's susceptibility to aortic dissection reflects the synergistic liability of coexistent elevated blood pressure and metabolic abnormalities in the genesis of aortic degeneration.

Adult↗
PubMed1986

Familial lethal sleep apnea.

Three of six siblings presented with sleep apnea between 18 and 26 months of age. Twin females and a male had normal growth and development without antecedent neurologic or apparent metabolic disorder. The females presented at 25 and 27 months respectively with irregular respiration and episodes of apnea. Twin A succumbed to an apneic episode while sleeping. Central sleep apnea was diagnosed in twin B at the Stanford Sleep Clinic. She died following an apneic episode three months after evaluation. The male presented at 18 months with fatal sleep apnea. A fourth child was evaluated for sleep apnea at 7 weeks of age with several hospitalizations before her death at 31 months. She and remaining family members were extensively studied for inherited neurologic disorders including subacute necrotizing encephalomyopathy (SANE, Leigh disease). This family with lethal sleep apnea presents an association with SANE with minimal neurologic signs and symptoms and neuropathologic involvement. Lesions were confined to the respiratory centers of the lower brain stem, making sleep apnea explicable. This child and family members tested positive or borderline for inhibitor substance thiamine triphosphate (TTP). All testing for TTP inhibitor substance was performed in Professor Jack R. Cooper's laboratory, Department of Pharmacology, Yale University School of Medicine, New Haven, Conn. These cases present an interesting and instructive lesson emphasizing the need for extensive evaluation of children with unsuspected sleep apnea with early demise.

Adult↗
PubMed1985

Pregnancy in a woman with the Brachmann-de Lange syndrome.

We present the first reported pregnancy in a woman with the Brachmann-de Lange syndrome. This 24-year-old primagravid woman was originally seen at 13 weeks of pregnancy with manifestations consistent with this diagnosis. High-resolution chromosome studies, performed on lymphocytes, showed a normal 46,XX chromosome constitution. Because of the stage of pregnancy at which she presented, a genetic amniocentesis was simultaneously performed for chromosome analysis on the fetal cells, which were also normal (46,XX). The uncomplicated pregnancy was monitored carefully and at 37 1/2 weeks of gestation she delivered a clinically normal-appearing female infant.

Amniocentesis↗
PubMed1982

Pattern evoked potentials in phenylketonuria.

Humans with untreated phenylketonuria (PKU) are candidates for having misrouted optic projections related to their hypopigmentation. Six tractable PKUs were tested using scalp-recorded evoked potentials. Both pattern reversal and pattern onset/offset (appearance/disappearance) stimuli were used under conditions of binocular and monocular stimulation. Evoked potentials were of normal form and hemispheric symmetry following both monocular and binocular stimulation in 5 of the 6 PKUs. The exception demonstrated a small hemispheric asymmetry upon stimulation of the left eye, but not following stimulation of the right eye. The asymmetry observed in this subject was probably idiosyncratic and not representative of PKUs in general. Four of the 6 PKUs produced reversal. This may be related to incomplete postnatal myelination. There appears to be no detectable optic misrouting in PKU. In spite of total absence of fetal phenylalanine hydroxylase activity, availability of tyrosine and melanin pigment is evidently sufficient during early development of the visual system to permit normal decussation of optic fibers at the chiasm.

Adult↗
PubMed1980

Upper limb anomalies and renal disease.

Two brothers with upper limb and renal anomalies have been identified. Their upper limb abnormalities were characterized by absence and hypoplasia of various bones; their renal anomalies included crossed-fused ectopia and vesico-ureteral reflux. Both suffered from chronic kidney failure secondary to reflux nephropathy. An autosomal or sex-linked mode of inheritance seems likely.

Abnormalities, Multiple↗
PubMed1978

Spermine and spermidine, modulators of the cell surface enzyme adenylate cyclase.

Adenylate cyclase activity was measured in membrane preparations of cultured fibroblasts from controls and patients with cystic fibrosis. Enzyme activity increased as the transition from exponential growth to confluence occurred; sodium fluoride-stimulated activity more markedly displayed this relationship than basal cyclase activity. The in vitro addition of spermine (1 X 10(-6) to 2 X 10(-3) M) to membrane preparations caused inhibition of basal and sodium fluoride-stimulated enzyme activity, with 50% inhibition of basal activity occurring at 10(-6) M spermine. Spermidine (10(-4) M) caused 15--25% inhibition of adenylate cyclase activity. The increase in fibroblast adenylate cyclase activity during the transition from exponential growth was comparable in cells obtained from cystic fibrosis patients and control subjects. Basal and sodium-fluoride stimulated adenylate cyclase activity as well as inhibition of this enzyme activity by spermidine and spermine were undistinguishable between the different cell genotypes. A potential modulation of cellular proliferative activity through polyamine interaction with the adenylate cyclase system is postulated.

Adenylyl Cyclase Inhibitors↗
PubMedDate not supplied

Thyroid screening in the newborn: Utah experience.

Since 1979, the State Department of Health Laboratory of Utah has screened 108,256 newborn infants for hypothyroidism. The incidence of diagnosed hypothyroid children during this period was 1 per 3,800 live births. Utilizing a normal range of serum thyroid hormone levels in newborn infants of 8.0 to 26.0 micrograms per dl, the incidence of normal infants initially considered hypothyroid was less than one percent. A review of our three years experience is presented.

Humans↗
PubMedDate not supplied

Hematologic aberrations in metabolic diseases.

This study of enzyme deficiencies and hematologic aberrations in metabolic diseases includes disorders of amino acidopathies, lipid disease, albinism, carbohydrates, and mucopolysaccharidosis.

Albinism↗
PubMedDate not supplied

Hereditary disorders of albumin synthesis.

Albumin, the major serum protein, is considered to be responsible for maintenance of normal serum colloid osmotic pressure, transport of certain hormones and maintaining an endogenous source of amino acids. The acute loss of albumin in the nephrotic syndrome leads to severe generalized peripheral edema and difficulties in maintenance of normal blood pressure as well as hypocalcemia. Yet, there are now 14 reported cases of congenital analbuminemia in which serum albumin is absent or greatly reduced without clinical evidence of edema, decreased hormone levels or abnormal amino acid requirements. These "experiments of nature" are reviewed in detail comparing clinical and laboratory findings in these patients with the postulated effects of a low serum albumin level.

Blood↗
PubMedDate not supplied

Inherited disorders of amino acid transport in relation to the kidney.

Cystinuria was first described in 1810. Since the initial description, a group of renal cellular transport deficit diseases has been characterized. The study of genetic diseases that create a specific aminoaciduria has expanded our knowledge of cellular structure, cellular transport, and intracellular concentration gradients. A review of the theories and experimental data obtained through investigations of the renal aminoacidurias are presented.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

Significance of polyamine measurements in urine in carcinogenesis of endocrine glands.

Polyamines, polycationic compounds found in urine and sera of mammals, are elevated in patients with malignancies. Like carcinoembryonic antigen, these organic structures have been investigated as potential diagnostic tools in screening at-risk individuals for cancer and for predicting prognosis. In many instances, the ubiquity of these compounds and the lack of specificity for each malignancy have negated their usefulness. Recently, investigations have included some of the endocrine carcinomas and the relationships of urine or serum polyamine measurements. This article indicates the preliminary work that has been done and future directions for the significance of polyamine measurements in urine in carcinogenesis of the endocrine glands.

Breast Neoplasms↗