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Biomedical subjects

A Gerber

Publications and source records attributed to A Gerber.

At least 91 records · Page 5Linked to original sources
PubMed1990

Severe neonatal asphyxia due to X-linked centronuclear myopathy.

Severe neonatal centronuclear myopathy is inherited as an X-linked condition characterized by primary asphyxia, extreme muscular hypotonia and absent spontaneous movements. We report seven cases from three families to point out the importance of diagnosis with regard to prognosis, outcome and genetic counselling. In hypotonic diseases, analysis of cerebrospinal fluid, electromyography, nerve conduction velocity creatine kinase and a skin biopsy for fibroblast cultures for metabolic investigations are usually carried out. Needle muscle biopsy is an additional valuable investigation to establish diagnosis. In all our patients we found an increased number of centrally located nuclei with perinuclear halos confirming the diagnosis of centronuclear myopathy. The diagnosis of this disorder will become of greater importance as soon as carrier detection and prenatal diagnosis by DNA-technology are routinely available.

Asphyxia Neonatorum↗
PubMed1990

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.

We have studied the inheritance of several polymorphic Xq27/28 DNA marker loci in two three generation families with the X linked neonatal lethal form of centronuclear/myotubular myopathy (XL MTM). We found complete linkage of XLMTM to all four informative Xq28 markers analysed, with GCP/RCP (Z = 3.876, theta = 0.00), with DXS15 (Z = 3.737, theta = 0.00), with DXS52 (Z = 2.709, theta = 0.00), and with F8C (Z = 1.020, theta = 0.00). In the absence of any observable recombination, we are unable to sublocalise the XLMTM locus further within the Xq28 region. This evidence for an Xq28 localisation may allow us to carry out useful genetic counselling within such families.

Cell Nucleus↗
PubMed1990

Passive smoking and 20-year cardiovascular disease mortality among nonsmoking wives, Evans County, Georgia.

The association of passive smoking and cardiovascular disease (CVD) mortality was assessed in a cohort of 513 rural, married Black and White women who were disease-free and self-described as never-smokers at baseline in 1960. Over a 20-year period, 76 of 147 total deaths were attributed to CVD. Relative risk estimates adjusted for age, cholesterol, blood pressure, and body mass from proportional hazards models were 1.59 for CVD (95% CI = 0.99, 2.57) and 1.39 (CI = 0.99, 1.94) for all cause mortality among women with husbands who smoked cigarettes.

Adolescent↗
PubMed1989

[Problems in obtaining a driver's license in remote areas].

Performance deficiencies were recorded in 22 rural subjects who had failed their driving license test three times. In a control group were 33 subjects with three failures, too, but of urban origin. The two groups showed no differences in psychophysical skills. The driving test showed that rural subjects pay significantly better attention to traffic signs and have better vehicle control. They were, however, less efficient in coping with complex traffic situations.

Adult↗
PubMed1986

Cardiovascular regulation during administration of co-dergocrine to normal subjects.

Whether and to what extent activation of peripheral presynaptic dopamine2-receptors may modulate the release of norepinephrine (NE) and so affect blood pressure (BP) in normal or hypertensive man is not clear. The hydrogenated ergotoxine derivative, co-dergocrine, given in effective antihypertensive rather than excessive experimental doses, has recently been shown to act predominantly as a peripheral dopamine2-receptor agonist in several species. Accordingly, BP regulation assessed has been in 8 normal men on placebo and after 3 weeks on codergocrine 4 mg/day. Co-dergocrine significantly reduced urinary NE excretion from 43 to 33 micrograms/24 h, supine and upright plasma NE 21 to 16 and 49 to 36 ng/dl, respectively, heart rate (-8 and -5%, respectively) and upright systolic BP, 115 to 102 mm Hg; upright diastolic BP also tended to be lower. A standard pressor dose of infused NE was lowered from 131 to 102 ng/kg/min, and the relationship between NE-induced changes in BP and concomitant NE infusion rate or plasma NE concentration was displaced to the left. Exchangeable sodium and plasma volume tended to be slightly decreased. Plasma and urinary electrolytes and epinephrine, plasma renin activity and aldosterone levels, pressor responsiveness to angiotensin II, the chronotropic responses to isoproterenol, and the NE-induced rise in BP, plasma clearance of NE, glomerular filtration rate and effective renal plasma flow were not consistently modified. The findings are consistent with effective peripheral dopamine2-receptor agonism by co-dergocrine in humans. Peripheral presynaptic dopaminergic activation may modulate sympathetic activity and BP in normal man.

Adult↗
PubMed1986

Body sodium/blood volume state in normotensive members of normotensive and hypertensive families.

Exchangeable sodium is lower than normal in young male patients with essential hypertension. This may reflect a primary abnormality of sodium metabolism, or natriuresis caused by sodium-independent elevation of arterial pressure. To investigate this question, 31 normotensive men with positive and 31 normotensive men with negative family history of essential hypertension were studied. Blood pressure tended to be higher in the former (121/78 +/- 9/8 (s.d.) versus 113/74 +/- 11/9 mmHg; P less than 0.005); mean age, urinary sodium or potassium excretion, plasma sodium, potassium, renin activity or aldosterone levels and creatinine clearance were comparable. Exchangeable sodium and blood volume were also similar in the two groups, when expressed in absolute values (3113 +/- 306 versus 3044 +/- 242 mmol and 4902 +/- 581 versus 4769 +/- 579 ml, respectively) or in relation to body surface area (100.8 +/- 7.1 versus 100.2 +/- 6% and 103.8 +/- 12.2 versus 102 +/- 11.3%). In both groups, exchangeable sodium and blood volume were unrelated to arterial pressure. The body sodium/blood volume state is normal in normotensive subjects with positive family history. The low exchangeable sodium of young patients with essential hypertension does not appear to reflect a primary familial abnormality of body sodium metabolism.

Aldosterone↗