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Biomedical subjects

A Hernandez

Publications and source records attributed to A Hernandez.

At least 199 records · Page 11Linked to original sources
PubMed1982

49,XXXXX syndrome.

A 3-year-old 49,XXXXX girl, the seventeenth case in medical literature, is described. A typical characteristic of the syndrome is the round face with epicanthal folds, hypertelorism, broad flat nasal bridge, upward slant of the palpebral fissures, enlarged round mandible and pointed chin, somewhat resembling trisomy 21. The apparent stronger selection against 49,XXXXX aneuploidy versus the 49,XXXXY suggested by the much higher frequency of the latter is probably due to the more severe congenital cardiopathy which may be related to the number of inactivated X chromosomes.

Abnormalities, Multiple↗
PubMed1982

Screening for inborn errors of the erythrocyte metabolism in Northwestern Mexico.

Data from a program aiming to the detection of inborn errors of the erythrocyte metabolism (IEEM) in Northwestern Mexican populations are presented. 5,998 individuals were studied and divided in 5 groups: a) 1,022 full-term newborns without jaundice; b) 872 randomly selected full-term newborns; c) 3,243 full-term newborns with jaundice; d) 54 patients with hemolytic anemia, and e) 807 professional blood donors. In groups b, c and d screening for 9 out of 14 IEEM clearly associated with hemolysis was carried out by means of enzymatic fluorescent procedures. In groups a and e only G-6-PD deficiency was investigated. The results suggest that 0.34%, 0.77%, 24% and 0.37% of the individuals from groups b, c, d and e, respectively, have an IEEM. The frequency of G-6-PD deficiency was 0, 0.43%, 1.1%, 30.3% and 0.37% in the males from groups a, b, c, d and e, respectively. The IEEM as a cause of neonatal jaundice seem not to be a public health problem in the studied populations. Systematic screening for: 1) G-6-PD deficiency in newborns with jaundice and 2) IEEM in patients with hemolysis, is recommended.

Anemia, Hemolytic↗
PubMed1981

The strength-duration function in the evocation of direct cortical responses.

The strength-duration function of single rectangular electrical stimuli which are required for eliciting threshold direct cortical responses in the primary somatosensory area was studied in rats anesthetized with 20 and 60 mg/kg of sodium pentobarbitone. The high linear correlation of the charge-duration data indicated that the strength-duration curve for threshold cortical activation closely resembles a hyperbolic function. Cortical chronaxie obtained from deeply anesthetized rats was higher than that obtained from slightly anesthetized ones. It is concluded that the chronaxie appears to be a significant discriminative intrinsic parameter for the quantitative characterization of excitation resulting from electrical stimulation of the cerebral cortex.

Anesthesia, General↗
PubMed1981

Trisomy 22q12 leads to qter: "aneusomie de recombinaison" of a pericentric inversion.

A 10-day-old girl affected with 22q12 leads to qter "pure" trisomy as a consequence of recombination within a maternal pericentric inversion (22)(p13q12) is described. A phenotypical comparative analysis reveals that the proposita's phenotype is strikingly similar to that of the trisomy 22 syndrome. Arylsulphatase-A activity was above normal levels and interpreted to be the result of a triple dosage of the gene, whose localization would be within the 22q12 leads to qter segment. It is concluded that the segment 22q12 leads to qter, rather than band q11 as previously suggested, plays an important role in determining the phenotypical abnormalities which characterize the trisomy 22 syndrome.

Abnormalities, Multiple↗
PubMed1981

Simultaneous trisomy 10q24 leads to qter and monosomy 4p16: an example of epistasis at the chromosome level.

A family with a reciprocal translocation (4;10)(p16;q24) leading to a simultaneous 10q24 leads to qter trisomy and partial 4p16 monosomy in two females (niece and aunt) is described. Comparative analysis with previously reported cases corroborates a distinctive dysmorphic syndrome due to the 10q24 leads to qter trisomy whose phenotypical expression is dominant over that of the 4p16 monosomy and those produced by other partial monosomies. This phenomenon is interpreted as epistasis at the chromosome level.

Abnormalities, Multiple↗
PubMed1981

Morphine-induced cortical excitation and its influence on thalamic somatosensory evoked activity.

Cortical and thalamic bioelectrical activity was studied following topical application of 1% morphine solution to the primary somatosensory area (PSA) and the parietal association area (PAA) of the rat cerebral cortex. At the cortical level, morphine enhanced both the spontaneous and the somatosensory evoked activity of PSA and PAA. The changes observed were restricted to the cortical region where the drug was applied. At the thalamic level, administration of morphine to the PSA or PAA significantly increased the amplitude of the evoked responses recorded from the center median-parafascicular complex (CM-Pf). It is concluded that morphine has a direct excitatory influence on cortical neurons involved in somatosensory processes. This morphine-induced cortical activation generates descending influences modulating neuronal activity at the thalamic CM-Pf complex level.

Administration, Topical↗
PubMed1980

Deficient cell immunity and mild intermittent hyperaminoacidemia in a patient with the Rubinstein-Taybi Syndrome.

A boy aged 2 years 8 months presenting the Rubinstein-Taybi Syndrome (RTS) and a history of recurrent gastrointestinal and respiratory infections was studied. Partial deficient cell immunity and intermittent hyperaminoacidemia and aminoaciduria were ascertained. These findings were interpreted as evidence of phenotypic and probably genetic heterogeneity of RTS.

Abnormalities, Multiple↗
PubMed1980

Plasma creatine kinase isoenzyme determinations in infants and children. Characterization in normal patients and after cardiac catheterization and surgery.

In adults, plasma elevations of creatine kinase isoenzymes are highly specific for myocardial necrosis, however, the diagnostic sensitivity and specificity of MB CK in children have not been determined. Accordingly, we analyzed the CK isoenzyme activity in serial plasma samples from 147 patients, aged 2 days to 18 months. Forty-two patients underwent routine checkups and served as controls. Fifty-seven patients underwent cardiac catheterization for congenital heart disease, an additional 16 underwent non-cardiac surgery, and 32 cardiac surgery. Blood samples were obtained prior to surgery and catheterization and q6H x 3 thereafter. Total plasma CK and MB CK in normals averaged 62 +/- 22 (SD) and 1.7 +/- 0.8 IU/L respectively. Despite a fivefold increase in total plasma CK after catheterization and surgery, MB CK remained normal. After cardiac surgery, total CK increased from 68 +/- 18 to 905 +/- 231 IU/L, and MB CK increased from 1.7 +/- 0.6 to 13 +/- 7 IU/L. Thus, MB CK is specific for cardiac injury and would be a valuable adjunct in the diagnosis of myocarditis or in assessing interventions to minimize cardiac injury during surgery.

Cardiac Catheterization↗
PubMed1980

Partial trisomy and monosomy 21 in an infant with an unusual de novo 21/21 translocation.

A 3-month-old boy with a 46,XY,--21,+t(21;21)(pter leads to q22.3::q22.3 leads to q11::p11 leads to pter) karyotype, implicating trisomy for the 21q11 leads to 21q22.2 segment and monosomy for the 21q22.3 sub-band, is described. Most of the clinical features corresponded to Down syndrome ; other signs such as large ears, prominent nasal bridge and retromicrognathia were interpreted as the expression of 21q22.3 monosomy. The abnormal monocentric chromosome had satellites and stalks on both ends as a result of a 21q;21q translocation followed by deletion of one centromere region. Despite similar stalk size and NOR-Ag positiveness a significantly higher association frequency of the centrometric end as compared to the acentric end was found. This observation suggests that the satellite association phenomenon is not exclusively NOR-dependent, but that the centromeric and/or p11 regions of acrocentrics also play an important role.

Centromere↗
PubMed1980

Cortical facilitatory effect of mefenamic acid.

Mefenamic acid intravenously injected or locally applied upon the cerebral cortex increases the amplitude of the evoked responses recorded in the somatosensory S1 cortex. This facilitatory effect supports previous EEG studies showing that this drug also has central actions. In light of the present result it is suggested that the central action induced by mefenamic acid occurs at the cortical level.

Animals↗
PubMed1979

Blood pressure in a high school population. II. Clinical profile of the juvenile hypertensive.

One-hundred-fourteen hypertensive high school students were evaluated to determine whether a distinctive clinical profile could be identified; 71 normotensive students served as controls. Selected blood chemistry determinations, urinalysis, and chest roentgenograms were done to help rule out secondary causes of hypertension. Left ventricular function was assessed by echocardiography and systolic time intervals. The hemodynamic response to exercise was also evaluated. A significant number of the subjects 14 to 18 years of age with persistent systolic and/or diastolic pressure 1.65 SD above the mean for age and sex showed the following: obesity; elevated serum triglyceride concentration; basilar hypertrophy by electrocardiogram/vectorcardiogram; electromechanical systole and pre-ejection period shorter, and the ratio of the pre-ejection period over the left ventricular ejection time lower, than mean for age and sex as determined by systolic time intervals; volume indices depressed and cardiac contractile functions elevated as determined by echocardiography; higher blood pressure at start of exercise stress test and higher peak systolic and diastolic pressures during test, and a slower return of heart rate to base line level after the test. The above findings should be useful in following the course of a young individual with essential hypertension and may provide a means of evaluating therapeutic intervention.

Adolescent↗
PubMed1979

De novo partial trisomy of chromosome 18(pter yields q11:). Some observations on the phenotype mapping of chromosome 18 imbalances.

An infant with a partial trisomy 18(pter yields q11:) is described. The patient's phenotype consists of many features of complete trisomy 18. The findings are compared with those from similar cases reported in the literature permitting to conclude that 18q121-q122 segment is the "critical" zone which when trisomic, causes the severe stigmata (inner organ malformations and early death) of the complete trisomy 18.

Child, Preschool↗
PubMed1979

Some clinical and cytogenetic observations on a ring chromosome 13 (p11 q34).

A girl of 9-10/12 years of age with 46,XX,r(13)(p11q34) karyotypes was studied. She presented some clinical and radiological features, such as pectus excavatum, scalp alopecic area, 12th rib agenesis, hypoplastic pelvis, small gluteal pits and hypoplasia of the external genitalia in a female, which have never been previously described in other cases with ring 13 chromosomes. Cytogenetically, in vivo and in vitro viability of complete monosomic and partially trisomic and tetrasomic cells was found. The presence of nucleolus organizer regions and association of the ring 13 with other acrocentrics question the exclusivity of these attributes to acrocentrics p12.

Abnormalities, Multiple↗
PubMed1979

Malformed genitalia in the 47,XYY genotype.

A 5 10/12 year-old boy with a 47,XYY karyotype, micropenis, scrotal hypospadias and right testicular regression is described. Normal for age basal plasma testosterone levels which increased after hCG stimulation were interpreted as an adequate response of the left testicular Leydig cells. The review of similar cases did not permit definite conclusions concerning the relationship between the abnormal genitalia and the XYY karyotype.

Aneuploidy↗
PubMed1979

On the deletion 4p16 Wolf-Hirschhorn syndrome.

Two girls (aged 46 and 5 months) and one boy aged 5 months) were studied and found to have the Wolf-Hirschhorn syndrome. Chromosomal complement in all three cases implicated the deletion of the 4p16 band ; in two of them an extra segment of autosomal material was found to be translocated to 4p. Parents' karyotypes were normal. It is concluded that the expression of the 4p16 monosomy is stronger than that of some simultaneous partial trisomies.

Abnormalities, Multiple↗