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Biomedical subjects

A Carnevale

Publications and source records attributed to A Carnevale.

At least 91 records · Page 5Linked to original sources
PubMedDate not supplied

Capillary gas chromatographic analysis of illicit diamorphine preparations.

An improved capillary gas chromatographic method for the analysis of illicit diamorphine preparation is reported. The method was able to resolve the impurities and more frequent adulterants and contaminants present in street heroin preparations with a diamorphine detection limit of 0.2 ng in split-less mode.

Chromatography, Gas↗
PubMedDate not supplied

Drugs in hair: a new extraction procedure.

An enzymatic hydrolysis of hair for drug detection is described. The results obtained with the suggested method are compared with those observed by chemical hydrolysis. Enzymatic digestion provides a high recovery (80%) for cocaine metabolite, while alkaline hydrolysis causes its chemical destruction. The two hydrolytic procedures yielded comparable results for morphine. The outlined procedure is recommended when unstable compounds are to be detected in hair.

Cocaine↗
PubMedDate not supplied

Carrier detection and prenatal molecular diagnosis in a Duchenne muscular dystrophy family without any affected relative available.

In this paper we report a family where the affected DMD patients were not available for study and a molecular strategy was used for female carriers detection and for prenatal diagnosis. Linkage analysis was performed with two markers within the DMD gene, in all family members screened. DMD markers used (pERT87.8/Taq1 and pERT87.15/Xmn1) seemed not to be informative because the propositas mother (II-2) was homozygous for the minor allele at each marker (T2 and X2), however, the proposita and one sister carried only the major allele, which was inherited from the father. These results suggested that a deletion involving both markers could be present, and was inherited from the mother to both daughters. Quantitative multiplex PCR confirmed the deletion in female carriers, involving at least exons 12 to 17. DNA studies of cultured amniotic fluid cells at 14 weeks gestation, by amplification of specific Y-chromosome sequences, followed by multiplex PCR, lead to the diagnosis of a male fetus affected by DMD.

Adult↗
PubMedDate not supplied

Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City.

BACKGROUND: Microtia is a malformation of the ear with extreme variability of expression. It is generally seen as an isolated malformation. However, some authors consider it to be a minimal manifestation of the oculo-auriculo-vertebral spectrum (OAVS), where, in addition, there are facial, vertebral, and renal abnormalities, among others. METHODS: A total of 145 pediatric patients with unilateral or bilateral microtia not considered as part of a syndrome were studied. All patients were subjected to an intentional clinical examination, a familial history, and radiographic imaging studies for ruling out associated malformations. Patients were classified into two groups: group 1 (60%), with isolated microtia; and group 2 (40%), considered as OAVS, with microtia associated with hemifacial skeletal microsomia, vertebral and/or renal malformations. RESULTS: No significant differences were found between the groups when the following variables were compared: gender; presence of unilateral or bilateral microtia; atretic external auditory canal; presence of preauricular tags; hearing loss of any type, and affection of the seventh cranial nerve, as well as associated malformations of other organs or systems. There were significant differences in relation to the presence of soft-tissue hemifacial microsomia, more frequently seen in patients with OAVS, because the majority of these patients had bone microsomia. Over 66% of the cases were sporadic and the rest were familiar. In 28.3% of the cases, the history suggested an autosomal-dominant inheritance pattern, and in 5.5%, an autosomal-recessive inheritance pattern, although in some familial cases, multifactorial inheritance could not be ignored. Some members in several families had isolated microtia, and others had mild characteristic manifestations of OAVS. CONCLUSIONS: Our results support the hypothesis that isolated microtia is a minimal expression of OAVS. Therefore, it is recommended that patients with microtia be subjected to intentional studies that search for malformations and physical examinations of first-degree relatives for adequate genetic counseling and management.

Adolescent↗
PubMedDate not supplied

Cytogenetics in acute lymphoblastic leukemia in Mexican children: an institutional experience.

BACKGROUND: Cytogenetic studies in acute lymphoblastic leukemia (ALL) have identified numerical and structural chromosomal abnormalities related to the disease's pathophysiologic characteristics. These findings correlate with prognosis and response to treatment in ALL patients. The purpose of this study was to define the frequency of chromosomal abnormalities in a group of Mexican children with ALL and to compare these data with those reported in the literature. METHODS: Bone marrow chromosome studies with GTG bands were performed in 150 pediatric patients with ALL who were naive to antileukemic treatment and aged from 5 months to 16 years; the majority was diagnosed as L1. RESULTS: Among 131 patients, 30 (22.9%) karyotypes were normal and the remaining 101 (77.1%) had abnormal karyotypes with numerical and/or structural abnormalities. Among patients with numerical abnormalities, the most frequent karyotypes were hyperdiploidy with 51-65 chromosomes (30 patients) and hyperdiploidy with 47-50 chromosomes (18 patients). Among recurrent, non-random, and primary structural abnormalities, the most frequent was t(9;22), followed by t(1;19). Aberrations involving band 11q23 were not detected, and only one of two patients with L3 had the t(8;14). Of the secondary non-random abnormalities, dup(1q), del(6q), and i(7)(q10) were found. CONCLUSIONS: The frequency and type of chromosomal abnormalities found was comparable to those reported in the literature with similar methodology and pediatric populations; however, the number of cases analyzed should be increased to create a database of Mexican children with ALL, and several patients require molecular analysis to identify chromosomal abnormalities not detected through conventional cytogenetic studies.

Child↗
PubMedDate not supplied

[The content and limits of consent to a medical procedure].

The bases of legality for any medical-surgical activity aimed at a therapeutical-diagnostic purpose is the consent of the patient. Such a consent must comply with some requirements of validity, first of all the owner of this right must be able to realize the significance of the assertion of his will. Besides, the awareness of the consent assumes that the surgeon should make a complete and detailed planning of the operation, with a clear reference to any possible hazard, as well as to any possible after-effects, as far as either the intellectual level or the motivity of the patient are concerned. After having examined the various laws covering, the legal, doctrinal and jurisprudential views, authors defines the aspects of the therapeutical treatment. The differences between a free decision and a true informed consent are outlined as well as the extension and the expression of same. It is particularly analysed the relationship between capacity and competence to get the juridical right. The question of understanding which is the best way to respect individual freedom, often reduced to a virtual level form a pathological restriction of individual autonomy, is still open. Moreover, the consent may really be effective only if it is specific, the is aimed at a well definite and accurate therapeutical act. Authors agrees with the criminalist interpretation that the medical surgical activity, out of consent of the patient, can give form to personal voluntary injury. In case of medical surgical treatment different from that previously agreed and out of a situation of therapeutic flagrant necessity, the authors are of the opinion that the inquiry has to concern the medical behaviour in order to estimate the medical surgical treatment as personal voluntary injury or as personal negligent injury. Some reasoned evaluations on the problem were considered at the end of the article.

Humans↗
PubMedDate not supplied

[Genetics and cancer].

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Chromosome Aberrations↗
PubMedDate not supplied

[Effects of the addition of conditioned media on the response of Fanconi anemia lymphocytes to mitomycin C].

It has been shown that the addition of normal plasma to Fanconi anemia (FA) lymphocyte cultures significantly decreases the frequency of mitomycin C (MMC) induced chromosome aberrations, suggesting that normal plasma contains a diffusible correction factor (CF) which is able to partially complement FA lymphocytes. On the other hand, there is evidence suggesting that FA cells are defective in the DNA postreplicative repair. CF could then be involved in DNA repair processes and in possible inducible mechanisms. In the present study MMC-treated FA lymphocytes were grown during the last 24 hours of culture, in conditioned media obtained from untreated and MMC-treated normal cells. The purpose was to investigate if MMC-stressed normal cells were induced to produce CF in vitro. The results failed to show a constant decrease of FA cells chromosome aberrations when plasma-free conditioned media from MMC-stressed normal cells were added (experiments 2 and 3). However, when the conditioned media were supplemented with normal plasma (experiments 1 and 4) a partial repair of MMC-induced damage of the FA cells was observed. The results suggest the presence of CF in normal plasma and two possible mechanisms of action are suggested: CF is involved in DNA repair of MMC-damaged FA cells or it induces cellular division selecting the less damaged cell population through mitosis.

Culture Media, Conditioned↗
PubMedDate not supplied

[Effect of the sex of the progenitor on the clinical manifestations of neurofibromatosis].

One hundred and twenty four patients with neurofibromatosis 1 (NF1) were assessed as whether the individual was a new mutation (68 cases) or born from an affected mother (27 cases) or an affected father (29 cases). For each case the clinical manifestations were recorded and the patients were grouped in four degrees of severity: minimal (1), mild (2), moderate (3) and severe (4). In the group of patients born to affected mothers, 33.3% had a degree 3 or 4 of severity in contrast with the 20.6% of those born to affected fathers. However the difference was not statistically significant. The frequency of the complications and their age of onset also suggested that patients born to affected mothers were more severely diseased. On the other hand, in the new mutation group, 35.2% of patients had degree 3 and 4 of severity. As 54% of our NF1 patients were new mutations and we do not know the proportion of paternal or maternal origin of the mutation, our results cannot support the hypothesis of a genomic imprinting in NF1 resulting in milder clinical manifestations when the gene is inherited from the father.

Adolescent↗
PubMedDate not supplied

[Clinical and radiologic study of hereditary diseases of the femoral epiphysis].

The diseases that involve the proximal femoral epiphysis are an heterogeneous group with similar clinical characteristics, so it is important to establish a differential diagnosis to bring suitable management and genetic counseling. The present study includes 33 patients: eleven with multiple epiphyseal dysplasia (MED), five with spondylo-epiphyseal dysplasia (SED), twelve with unilateral Perthes disease (PD uni) and five with bilateral Perthes disease (PD bi). The clinical study showed that affected relatives and associated clinical manifestations were more frequent in the dysplastic patients. The somatometric profile of the 17 PD patients was within two standard deviations of the average, whereas the dysplastic patients showed short stature. In the radiological study all patients had one or both proximal femoral epiphysis affected. All the dysplastic patients had other irregular or flattened epiphysis, but only half of those with PD showed mild flattening or distal femoral epiphysis. Eight of 29 patients had a delay in bone maturity, and all patients had mild flattened vertebras. We think this study shows the importance of having sufficient clinic and radiologic criteria to establish the differential diagnosis in view of the heterogeneity of these entities.

Adolescent↗
PubMedDate not supplied

[Effect of gamma radiations on robertsonian translocations].

Centromeric breaks and the dissociation of Robertsonian translocations have been regarded as the possible cause of a few reported cases of mosaicism. In a previous study we suggested that the dissociative phenomenon is influenced by an instability of the point of fusion, when it is located on a heterochromatic region, which appears to be a preferential mitomycin C (MMC) breakpoint. In this study lymphocytes from 6 robertsonian translocation carriers were treated with gamma rays. In one case who was a mosaic, the MMC induced a statistically significant increase in the number of cells with the dissociation. In the remaining cases, centromeric breaks or complete fissions were observed in 1.8% of the cells. In addition, the analysis of the distribution of breakage points on heterochromatic or euchromatic regions showed that almost 50% of the breaks on translocation chromosomes were located on pericentromeric heterochromatin. We postulate that the dissociation which occurs in robertsonian translocations may be caused by instability of the point of fusion since it is located on a heterochromatic region, susceptible to breakage by clastogenic agents such as MMC and gamma rays.

Gamma Rays↗
PubMedDate not supplied

[Effect of mitomycin C (MMC) on the fusion points of reciprocal translocations].

Lymphocytes from five patients having a reciprocal translocation were exposed to MMC to test the stability of the point of reunion which was localized in an euchromatic region. The results showed that the point of fusion in this type of translocations in not a preferential breakpoint. In a patient carrier of a (1;7) translocation, the derivate chromosome showed a significant increased number of breaks compared with the homologous chromosomes. No explanation is available for this finding. Our results support the hypothesis that the observed dissociation of Robertsonian translocation is related to the fact that the point of reunion is located in a heterochromatic region.

Chromosome Fragility↗