Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Sons”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 577 records · Page 32Linked to original sources
PubMed1985

Behavioral effects of alcohol in sons of alcoholics.

This paper describes a search for genetically mediated biological factors that contribute to a predisposition toward alcoholism. Healthy, nonalcoholic, drinking men aged 21 to 25 who have a close alcoholic relative were selected as the family history positive (FHP) or higher risk subjects and matched with lower risk controls (family history negative, or FHN) on demography, drinking and smoking history, and height to weight ratio. Comparisons of this higher and lower risk population revealed no significant differences in selected personality attributes, and an alcohol challenge resulted in identical patterns of blood alcohol over time. However, the FHP men developed higher levels of the first breakdown product of ethanol, acetaldehyde, after drinking, demonstrated a less intense intoxication than the FHN controls despite identical blood alcohol concentrations, and tended to show a lower amplitude of a positive brain wave sent at about 300 msec in an event-related potential paradigm. These results may be clues to help investigators identify genetic markers of a predisposition toward alcoholism.

Adult↗
PubMed1982

Your son is cured now; you may take him home.

While responding to a question on medical errors in an in-depth interview, a physician told a story about a medical error. The story revealed his silent involvement in the evolution of the error. His response is presented as a 'text' requiring interpretation. Fine details of his manner of speaking are displayed in order to disclose what he said and what it meant. In interpreting the text, phenomenological and sociolinguistic methods are used.

Appendectomy↗
PubMed1983

Dissociation of a t(12;21) resulting in a normal cell line in two trisomic 21 sons of a nonmosaic t(12;21) father?

A normal cell line arising from a translocation, t(12;21), possibly by dissociation, was observed in two brothers in early life. Each was conceived as trisomic 21 by their 45,XY,-12,-21,+t(12;21) father, who was phenotypically normal. Each brother showed morphologic manifestations of trisomy 21 syndrome, and each was mildly mentally retarded. Dermatoglyphic indices were not diagnostic of trisomy 21 syndrome. At 4 months the younger brother had a 50:50 proportion of trisomic:normal blood cells which became 25:75 of trisomic 21:normal at 36 months. The older brother had a 25:75 proportion of trisomic 21:normal when first studied at 41/2 years. A similar t(12;21) has not previously been reported. The occurrence of an apparently normal cell line arising spontaneously is unique.

Adult↗
PubMed1976

rDNA and acrocentric chromosomes in man. I. rDNA levels in a subject carrier of a 8p/13p balanced translocation and in his unbalanced son.

A malformed female infant was found to have a 46,XX complement with a chromosome 8 shorter than normal with a secondary constriction and satellites on the short arm. Chromosome studies on the clinically normal father showed a balanced translocation between chromosome 8 and 13, i.e., 46,XY,t(8;13) (p21 p12). The proposita, carrier of the unbalanced form of the translocation, resulted partially monosomic for short arm of chromosome 8 (8p-) and partially trisomic for short arm of chromosome 13. The levels of DNA complementary to rRNA (normal in the father who had 10 NOR and increased in the proposita who had 11 NOR) confirmed our interpretation of the rearrangement.

Adult↗
PubMed1979

Partial trisomy 7q and probable partial monosomy of 5p in the son of a mother with a reciprocal translocation between 5p and 7q.

An underweight male newborn revealed a complex pattern of abnormal findings including severe neurologic dysfunction, a catlike cry, defective ossification of the calvarian bones, hypertelorism, downward slanting palpebral fissures, epicanthal folds, a short and flat nose with a flattened bridge, broad thumbs, clenched fingers 3--5 on the right hand, simian creases, a congenital heart defect, internal hydrocephalus, and bilateral hydronephrosis. He died on day 26 of his life. Chromosome examination disclosed a maternally inherited reciprocal translocation between 5p and 7q, resulting most probably in monosomy of 5p15 and trisomy of 7q32 leads to qter (46,XY,der(5), t(5;7)(p15;q32)mat).

Abnormalities, Multiple↗
PubMed1991

Myoglobinuria and carnitine palmityl transferase deficiency in father and son.

A 18-year-old man had recurrent myoglobinuria following exercise and fasting. His parents originated from the same village, which has less than 1000 inhabitants. His 53-year-old father suffered from similar episodes, whereas his mother and elder brother were symptom free. Biochemical investigations on muscle and platelets disclosed carnitine palmityl transferase (CPT) deficiency in the patient and his father. His mother and brother showed intermediate CPT values consistent with their being heterozygotes. This appears to be the first report of CPT deficiency with recurrent myoglobinuria in two generations (so-called quasidominant transmission).

Adolescent↗
PubMed1975

Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father).

The McDonough syndrome is a "new" MCA/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47--67) and had congenital heart defect, sternal deformity, kyphosis and craniofacila anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is postulated as the explanation for similar features in affected and unaffected siblings and parents. However, the McDonough syndrome may be an autosomal recessive trait with minor manifestations in heterozygotes. The klinefelter syndrome in one affected boy and a 46,XY/47,XXY chromosome constitution in the father was a coincidental finding.

Abnormalities, Multiple↗
PubMed1996

Carbon-11 and iodine-123 labelled iomazenil: a direct PET-SPET compari son.

The benzodiazepine receptor ligand iomazenil was labelled with carbon-11 to allow a direct positron emission tomography/single-photon emission tomography (PET/SPET) comparison with the well-known iodine-123 labelled compound. Imaging showed the same regional distribution for both modalities. Blood sample activity was corrected for metabolites by extraction with chloroform and high-performance liquid chromatographic analysis. Metabolism is very fast: 5min after application more than 85% of the plasma activity is present as hydrophilic metabolites. Kinetic methods were used to obtain regional estimates of transport rate constants and receptor concentrations. A three-compartment model was employed which gave transport rate constants for brain uptake (K1) and the distribution volume for the specifically receptor bound compartment (DVS). K1 varied from 0.32 to 0.50ml/min per gram for the cortical regions, cerebellum, thalamus and striatum for PET and SPET. Mean DVS-PET and DVS-SPET values were, respectively, 23+/-5 and 31+/-5ml/g for the occipital cortex, 11+/-3 and 15+/-2ml/g for the cerebellum, 7+/-2 and 11+/-3ml/g for the thalamus, 5+/-3 and 10+/-3ml/g for the striatum, and 3+/-2 and 3+/-1ml/g for the pons. These values correlated very well individually. The coefficient of variation of the SPET parameters was quite comparable to that of the PET parameters, especially after 180min (PET 90min) study duration. Thus quantitative benzodiazepine receptor information can be obtained from dynamic SPET imaging in the same way as with PET.

Adult↗
PubMed2001

Pseudohypoparathyroidism in a mother and son: phenotypic variability and associated disorder.

A 2-month-old infant with clinical features of hypothyroidism presented with hypocalcemic seizures. The maternal phenotypic features aroused the suspicion of pseudohypoparathyroidism which was confirmed in both by biochemical and endocrinological investigations. Though the child had clinical and radiological features to suggest hypothyroidism he had normal free thyroxine and only slightly elevated thyroid stimulating hormone levels. Special note is made of the intra and interpatient variability of this rare inherited disorder.

Adult↗