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Biomedical subjects

C H Gonzalez

Publications and source records attributed to C H Gonzalez.

At least 19 recordsLinked to original sources
PubMed2002

Total body water measurement using bioelectrical impedance analysis, isotope dilution and total body potassium: a scoring system to facilitate intercomparison.

OBJECTIVES: (1) To develop a scale that is useful in evaluating the accuracy of multifrequency bioelectrical impedance analysis (MF-BIA) in the assessment of body water volumes against the accepted gold standard measurements based on isotope-dilution and total body potassium (TBK). (2) To perform a pilot test of the scale. DESIGN: A scale was developed to evaluate the accuracy of MF-BIA in the assessment of body water volumes. Questions were obtained from reading the scientific literature and discussions involving the four authors. Three of these and two additional independent readers pre-tested the scale. A weighting was identified for each question and a pilot test with a sample of 10 articles (different to those used for the questionnaire performance) was conducted. A further validation was carried out with a second set of 20 articles and two additional independent readers. RESULTS: The kappa statistic expressing the level of agreement between pairs of the first three authors using this scale with 10 articles, was 0.3, 0.4 and 0.6 after the first attempt. A second evaluation after specific changes improved the agreement to 0.8, 0.6 and 0.8. The mean score for 10 articles was 252+/-36 points from a total score of 400 (63+/-9%). The evaluation with the second set of 20 articles resulted in a kappa of 0.7 from two pairs of authors. The evaluation with two additional reviewers resulted in a kappa=0.7. CONCLUSION: A tool has been developed to assess the accuracy of the MF-BIA technique and to identify methodological components, plan future studies and critically evaluate data in this area. It is likely that this tool may also be used to assess the accuracy of single frequency studies.

Body Water↗
PubMed2001

Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

We report on a family with typical clinical findings of Noonan syndrome associated with giant cell lesions in maxilla and mandible. We discuss the obvious clinical overlap between Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome, and we give further clinical and molecular support that these two entities could be allelic conditions.

Adolescent↗
PubMed2000

Standardized limb abduction for bioimpedance measurements using position restraints.

Bioelectrical impedance analysis (BIA) measurements are widely used in the assessment of body hydration. However, there are many variables which can influence the impedance values obtained and their individual significance is not entirely clear. One such variable is limb position and it is possible to standardize this either by invoking subject cooperation or by the use of some form of mechanical constraint. This study evaluates these two approaches. BIA measurements were made on five healthy male volunteers both with the positioners and without. Additional variables including room temperature, prandial status, exercise, alcohol intake, bed surface for the test, and bladder status were controlled. The mean percentage difference between impedance values with and without positioners was (-0.37 +/- 0.69)%. The mean difference between occasions with and without mechanical fixing was (2.02 +/- 2.5)% and (2.58 +/- 3)% respectively. None of these differences is statistically significant. It was concluded that reproducibility of BIA measurements obtained with active subject cooperation in limb position is not significantly improved if mechanical positioners are used. This may not apply where subject cooperation is poor e.g. in very sick or very young people or in repeated measurements in different days.

Adult↗
PubMed2000

Cardiac findings in 31 patients with Noonan's syndrome.

OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and Doppler echocardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80% of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease.

Adolescent↗
PubMed1998

Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy.

BACKGROUND: Misoprostol is commonly used to induce abortion in Brazil, and in other countries in South and Central America where abortions are illegal. However, misoprostol is not very effective in inducing abortions, and exposure to the drug in utero can cause abnormalities in the fetus. We aimed to define the common phenotypical effects of exposure to the drug. METHODS: We studied 42 infants from São Paulo, Brazil, who were exposed to misoprostol during the first 3 months of gestation, and then born with congenital abnormalities. We interviewed each of the infants' mothers to find out about misoprostol exposure and dosage. Each infant was physically examined by a geneticist or a neuropaediatrician. FINDINGS: 17 of the infants had equinovarus with cranial-nerve defects. Ten children had equinovarus as part of more extensive arthrogryposis. The most distinctive phenotypes were arthrogryposis confined to the legs (five cases) and terminal transverse-limb defects (nine cases) with or without Mobius sequence. The most common dose of misoprostol taken was 800 microg (range 200-16000 microg). INTERPRETATION: Deformities attributed to vascular disruption were found in these children. We suggest that the uterine contractions induced by misoprostol cause vascular disruption in the fetus, including brain-stem ischaemia. Information on the effects of taking misoprostol during pregnancy should be made more widely available, to dissuade women from misusing the drug.

Abnormalities, Drug-Induced↗
PubMed1995

Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q.

Deletion 11q23-->qter and duplication 12q23-->qter are described in a boy with neuroblastoma, multiple congenital anomalies, and mental retardation. The patient has clinical manifestations of 11q deletion and 12q duplication syndromes. The possible involvement of the segment 11q23-->24 in the cause of the neuroblastoma is discussed.

Abnormalities, Multiple↗
PubMed1995

Hereditary multiple exostoses and cervical ventral protuberance causing dysphagia. A case report.

STUDY DESIGN: A case report of a patient with hereditary multiple exostosis and who presented with cervical ventral protuberance causing dysphagia. OBJECTIVES: To present this rare situation and to discuss the treatment and the result obtained. SUMMARY OF BACKGROUND DATA: We found in the literature only one case of exostosis of the cervical spine causing dysphagia. METHODS: The patient, a 16-year-old girl, was affected by hereditary multiple exostosis, as was her father. The diagnosis was confirmed by radiograph, computed tomography, and magnetic resonance imaging, which showed a tumor in the anterior arch of the atlas. The patient was submitted to a transoral approach, and the tumor was excised. RESULTS: The patient had a good evolution 2 years after the surgery without sign of recurrence. CONCLUSIONS: This was a very rare situation, and the result validated the treatment used.

Adolescent↗
PubMed1993

Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy.

Misoprostol, a synthetic analog of prostaglandin, has been widely used in Brazil as an abortifacient. Abortion is illegal in Brazil. An uncertain number of these abortion attempts are unsuccessful and the pregnancy continues. We report on 7 patients whose mothers attempted to abort using this drug in the first trimester of gestation without success. The 7 patients presented with limb defects and in 4 of them a diagnosis of Möbius sequence was made.

Abnormalities, Drug-Induced↗
PubMed1990

In search of a genetic basis for the Rett syndrome.

Rett syndrome is a progressive encephalopathy restricted to the female sex. In the present paper a possible genetic cause for this syndrome is discussed, based on data from the literature as well as our own. Our results are in agreement with others regarding no increase in parental age, or in spontaneous abortions rate among the mothers of affected children and with a normal sex ratio among sibs. We have found no chromosome rearrangement detectable with the methods used and no correlation between fra(X) (p22) and the Rett syndrome. We have observed an alteration in the sequence of replication in one of the two types of late-replicating X-chromosome present in normal women, and suggest that this may signify that genes which are active in the late-replicating X-chromosome are inactivated (or vice-versa) in these patients. This fact could be related to the abnormal phenotype observed in Rett syndrome patients.

Child↗
PubMed1988

Inherited C3 deficiency of the complement system.

1. We report a patient homozygous for C3 deficiency and several heterozygotes from the same family. Upon follow-up, the homozygote was found to suffer several severe bacterial infections, whereas all the heterozygotes were clinically healthy. 2. C3 was undetectable in the homozygous patient, CH50 was very low and factor I was present. Serum capacity to generate chemoattractant stimuli for peripheral leucocytes was similar to that of normal adults as was also observed for one of the heterozygotes. Serum capacity to opsonize yeast was reduced in the presence of autologous and homologous (normal adult) cells. The CH50 levels of heterozygous patients were within the lower range of normality. 3. The parental consanguinity and the homozygosis state observed here are classical signs of recessive autosomal inheritance. However, the lower or below normal C3 levels detected in parents and relatives point to a co-dominant inheritance of gene S with respect to the "null" gene. 4. C3 polymorphism presented a predominantly "slow" pattern in most family members, which, together with the low C3 levels, indicates the expression of S-allotypes.

Antibodies, Anti-Idiotypic↗
PubMed1985

Creatine-kinase and pyruvate-kinase activities in normal children: implications in Duchenne muscular dystrophy carrier detection.

Serum creatine-kinase (CK) and pyruvate-kinase (PK) levels were determined in 201 boys and girls less than 15 years old to establish values and to investigate a possible correlation between enzyme activity, sex, and age. It was observed that the mean CK activity in boys was significantly higher than in females (of all ages), whereas it did not differ statistically between girls and women. A slight but significant correlation between CK activity and age was found only in females. The mean PK activity in children was significantly greater than in adult women and it decreased significantly with age in children of both sexes. Furthermore, a slight correlation between CK and PK was observed only in girls. Based on these results, we suggest that the results of CK and PK determinations of females at risk for Duchenne muscular dystrophy should be compared with controls of comparable age and sex.

Adolescent↗
PubMed1984

Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology.

Fibrochondrogenesis is a rare, neonatally lethal rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by broad long-bone metaphyses, pear-shaped vertebral bodies, and by microscopic changes of cartilage with unique interwoven fibrous septa and fibroblastic dysplasia of chondrocytes. We report the second and third well-documented cases of this apparently autosomal recessive disorder and discuss the differential diagnosis.

Cartilage↗
PubMed1983

Duplication 10p in a girl due to a maternal translocation t(10;14) (p11:p12).

We present a dup (10p) due to a t(10;14) (p11;p12)mat with a malformation syndrome in a girl. The analysis of 37 published cases shows that 31 patients (16 males; 15 females) had either a mother or a father carrying a balanced translocation; one case was due to a paternal and another due to a maternal pericentric inversion; two cases were due to de novo translocations; one case had a partial duplication of 10p; and one case had a supernumerary ring chromosome composed of 10p material. The phenotypic spectrum of the condition was analyzed. It is a specific multiple congenital anomalies/mental retardation (MCA/MR) syndrome which includes characteristic facial appearance (dolichocephaly, frontal bossing, short nose with a broad root, highly arched and upswept eyebrows, long philtrum, and thin lips), postnatal growth retardation, severe mental and psychomotor retardation, and several major and minor anomalies. Pseudohermaphroditism seems to be an important anomaly being present in 15 to 20% of affected males. A hypothenar crease together with a transverse crease forming a "crease triangle" seems a helpful sign in the clinical diagnosis of duplication 10p.

Abnormalities, Multiple↗