[Subacute polyneuropathy as the initial manifestation of sarcoidosis].
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Acute Disease↗
Biomedical subjects
C Navarro
Publications and source records attributed to C Navarro.
Neurofibromatosis and early onset of cancers in hMLH1-deficient children.
Hereditary nonpolyposis colon cancer is a common hereditary disorder caused by the germ-line mutations of DNA mismatch repair (MMR) genes, especially hMLH1 and hMSH2. We report here the first identification of human compounds with a homozygous inactivation of a MMR gene. In a typical hereditary nonpolyposis colon cancer family, MMR-deficient children conceived from matings between heterozygotes for a hMLH1 deleterious mutation exhibited clinical features of de novo neurofibromatosis type I and early onset of extracolonic cancers. This observation demonstrates that MMR deficiency is compatible with human development but may lead to mutations during embryogenesis. On the basis of clinical symptoms observed in MMR-deficient children, we speculate that the neurofibromatosis type 1 gene is a preferential target for such alterations.
Adaptor Proteins, Signal Transducing↗
Sonographic presentation of uterine sex cord-stromal tumor.
A 24-year-old woman presented with continuous vaginal bleeding and anemia. Pelvic sonography demonstrated an enlarged uterus measuring 8.9 x 4.9 x 4.7 cm and a mass within the endometrial cavity measuring 3.0 x 1.8 cm. The mass appeared to be polypoid and echogenic, contained a small cyst, and was suggestive of a polyp. The patient underwent total vaginal hysterectomy. Pathologic examination revealed a uterine sex cord-stromal tumor. To our knowledge, the sonographic features of uterine sex cord-stromal tumor have not been previously reported. The sonographic appearance mimicked that of a polyp.
Adult↗
A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.
We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle's disease. The patient was homozygous for a T-to-C transition at codon 115 (L115P) in exon 3, which changed an encoded leucine (CUG) to a proline (CCG). This is the first mutation to be described in exon 3 and in a protein domain related to dimer contact. These data further emphasize the importance of private mutations in McArdle's disease, some of which are associated with specific ethnic groups.
Glycogen Phosphorylase, Muscle Form↗
Flower development in pisum sativum: from the war of the whorls to the battle of the common primordia
The ontogeny of pea (Pisum sativum L.) flowers, as in many legume and nonlegume plant species, proceeds through a very different sequence of events from the same process in Antirrhinum majus and Arabidopsis thaliana. Using scanning electron microscopic analysis, we have characterized the early development of wild-type pea flowers and selected morphological characters or markers to break it down into different developmental stages. We used these markers as tools to characterize early alterations in flower development of several pea floral homeotic mutants. These mutants display phenotypes resembling those of: (1) floral meristem identity mutations, frondosus (brac); (2) class A mutations, calix carpellaris (cc); (3) class B mutations, stamina pistilloida (stp-1 and stp-2); and (4) class C mutations, petalosus (pe). According to the homeotic transformations observed in the pea floral mutants, it would appear feasible that the identity and developmental pattern of the four organ types in pea flowers are governed by at least the same three developmental functions, A, B, and C, proposed for the two model systems. However, our results suggest that, in pea, although these functions do have a similar role in the specification of organ identity shown by their counterparts in Arabidopsis or Antirrhinum, they may differ in the control of other processes, such as floral determinacy, organ number, or leaf development. The more remarkable features of pea flower ontogeny were the existence of four common primordia to petals and stamens, the early carpel primordium initiation, and the abaxial-adaxial unidirectional initiation of organ primordia within each different floral whorl, in contrast to the centripetal and sequential floral ontogeny in other plants. Organ differentiation within each of these common primordia appears to be a complex process that plays a central role in the ontogeny of pea flowers. Analysis of flower developmental pea homeotic mutants suggests that A, B, and C functions are necessary for the correct differentiation of organs from common primordia and that, in addition to its role in the specification of petals and stamens, B function, would be involved in conferring common primordia identity. Copyright 1999 Wiley-Liss, Inc.
Journal Article↗
Intrapartum fetal invasive procedures and perinatal transmission of HIV.
OBJECTIVE: To study the effect of intrapartum use of fetal invasive procedures (scalp electrodes or scalp pH sampling) on perinatal transmission rate of HIV. STUDY DESIGN: We compared the perinatal transmission of 57 HIV pregnancies in which invasive procedures (IP) were performed with a control group of 214 pregnancies without IP. We controlled for potentially risk factors (maternal CD4 level, gestational age, antiretroviral therapy use, duration of rupture of membranes (ROM), length of labor and mode of delivery) by stratification and logistic regression. RESULTS: Transmission rate in the group with IP was 26.3% (15/57) versus 13.6% (29/214) in the control group, relative risk (RR) 1.9, 95% CI (1.1-3.4). By logistic regression we observed three significant factors involved in transmission of HIV: low maternal CD4 level (odds ratio (OR)=3.3, 95% CI=1.2-9.4), duration of ROM (OR=2.9, 95% CI=1.1-7.9) and IP use (OR=3.5, CI 95%=1.2-9.6). Interaction between duration of ROM and IP are also significant (OR=5.1, CI 95%=1.5-17.5). CONCLUSIONS: Intrapartum use of fetal scalp electrodes or fetal scalp pH sampling increases the perinatal transmission of HIV and should therefore be avoided in HIV patients.
CD4 Lymphocyte Count↗
Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle.
Hirano bodies constitute eosinophilic intracytoplasmic inclusions, typically seen in the central nervous system, where they are related to senility and certain dementias such as Alzheimer's disease or the Parkinson-dementia complex. They have been found in different tissues of experimental animals and, on rare occasions, in extraocular muscles of elderly individuals. However, to our knowledge they have not been described in skeletal muscle in locations other than extraocular muscles or associated with muscle pathology. Glycogenosis II or Pompe's disease, is a metabolic disorder caused by acid maltase deficiency and is characterized by glycogen accumulation in lysosomes in various tissues, including skeletal muscle. There are three clinical forms depending on age at onset, the most frequent being the childhood form. We present the histopathological and ultrastructural findings of a muscle biopsy performed in a case of the adult form of glycogenosis II which showed, in addition to characteristic lysosomal glycogen storage, paracrystalline mitochondrial inclusions and, as an exceptional finding, intracytoplasmic Hirano bodies in some muscle fibres.
Female↗
A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.
We have identified a novel missense mutation, an A-T transition at codon 684 in exon 17, changing an encoded asparagine to a tyrosine (Asn684Tyr) in a Spanish patient with typical McArdle's disease. The patient was a compound heterozygote, with a previously-described mutation (Gly204Ser) on the other allele. This report expands the molecular genetic heterogeneity in McArdle's disease, emphasizes the presence of private mutations in specific ethnic groups, and indicates that geographic origin must be considered before undertaking DNA analysis for diagnosis.
Adult↗
Dietary intake of vegetables and fruits among adults in five regions of Spain. EPIC Group of Spain. European Prospective Investigation into Cancer and Nutrition.
OBJECTIVE: To assess the consumption of vegetables and fruits (V&F) in adults from five regions in Spain according to sex, age and educational level. DESIGN: Cross-sectional study within the members of the EPIC cohort in Spain. SETTING: Three regions of the north of Spain (Asturias, Guipúzcoa and Navarra) and two regions of the south of Spain (Granada and Murcia). SUBJECTS: 41448 healthy volunteers (15365 men, 25813 women), aged 29-69 y. INTERVENTIONS: Information on habitual diet during the previous year was collected by means of a computerised version of a diet history questionnaire. RESULTS: Among men, the mean daily consumption of vegetables and of fruits was 273.7 g (3.4 servings) and 348.3 g (4.4 servings) respectively. Among women, the corresponding vegetables and fruit intakes per day were 244.4g (3.1 servings) and 349.4g (4.4 servings). The total V&F intake tended to increase with age and educational level. Overall, 74% of subjects consumed 400 g/d (5 servings) of vegetables and fruit. CONCLUSIONS: Consumption of vegetables and fruits in healthy adults in Spain is considerably higher than in most European countries and the United States; this complies with what is considered to be the Mediterranean diet. Despite some regional differences, there were no clearly differentiated patterns of V&F intake between southern and northern regions within Spain.
Adult↗
Lipoid proteinosis. A biochemical and ultrastructural investigation of two new cases.
Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and visceral lesions, in which large amounts of amorphous material are constantly found in stroma. Morphological and biochemical studies indicate abnormal collagen production, but little attention has been paid to the lipid component of lesions. Microscopic and ultrastructural studies of skin, with special emphasis on fibroblasts, vessels, nerve endings and eccrine sweat glands, were conducted in two patients with lipoid proteinosis. Biochemical studies were undertaken in cultured fibroblasts. Evidence of lysosomal storage in epithelial cells of eccrine sweat glands and in dermal histiocytes, very similar to that found in some metabolic disorders, particularly Farber disease, was found in both cases. Our findings suggest that two alterations might coexist in lipoid proteinosis, one characterized by impaired normal collagen production and the other related to a metabolic defect which may lead to accumulation of ceramide or more complex lipids.
Adult↗
Genetic diversity in mesoamerican populations of mahogany (Swietenia macrophylla), assessed using RAPDs.
Swietenia macrophylla King, a timber species native to tropical America, is threatened by selective logging and deforestation. To quantify genetic diversity within the species and monitor the impact of selective logging, populations were sampled across Mesoamerica, from Mexico to Panama, and analysed for RAPD DNA variation. Ten decamer primers generated 102 polymorphic RAPD bands and pairwise distances were calculated between populations according to Nei, then used to construct a radial neighbour-joining dendrogram and examine intra- and interpopulation variance coefficients, by analysis of molecular variation (AMOVA). Populations from Mexico clustered closely together in the dendrogram and were distinct from the rest of the populations. Those from Belize also clustered closely together. Populations from Panama, Guatemala, Costa Rica, Nicaragua and Honduras, however, did not cluster closely by country but were more widely scattered throughout the dendrogram. This result was also reflected by an autocorrelation analysis of genetic and geographical distance. Genetic diversity estimates indicated that 80% of detected variation was maintained within populations and regression analysis demonstrated that logging significantly decreased population diversity (P = 0.034). This study represents one of the most wide-ranging surveys of molecular variation within a tropical tree species to date. It offers practical information for the future conservation of mahogany and highlights some factors that may have influenced the partitioning of genetic diversity in this species across Mesoamerica.
Central America↗
Late-onset McArdle's disease mimicking treatment-resistant polymyositis. Report of a case and review of the literature.
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Age of Onset↗
[Indications for gastroplasty in the treatment of obesity].
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Body Mass Index↗
Peer education: an appreciation.
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HIV Infections↗
Subsarcolemmal expression of utrophin in neuromuscular disorders: an immunohistochemical study of 80 cases.
The immunohistochemical expression of utrophin in 80 muscle biopsies from patients with dystrophinopathies and other neuromuscular disorders is reported. All biopsy specimens were routinely studied by a battery of 12 histoenzymatic techniques, and immunohistochemistry was performed for spectrin, three domains of dystrophin and two domains of utrophin. Abnormal utrophin expression was observed in all dystrophinopathic muscles compared with normal controls or biopsy samples from several other muscular diseases. Inflammatory myopathies presented abnormal overexpression of utrophin and an abnormal dystrophin immunolabeling pattern. This overexpression of utrophin appears to be directly related to the decrease in dystrophin. We conclude that the study of utrophin is important for the histological interpretation and differential diagnosis of dystrophin-related muscular disorders.
Adolescent↗
Embryology of esophageal atresia in the adriamycin rat model.
PURPOSE: The aim of this study was to describe the dysmorphogenetic process leading to esophageal atresia and tracheoesophageal fistula (EA + TEF) in the recently developed Adriamycin model of the malformation. METHODS: Time-mated pregnant rats were given either Adriamycin (1.75 mg/kg intraperitoneally) or saline on days 6 to 9 of gestation, and their embryos recovered on days 12, 12.5, and 13 were serially sectioned in the transversal plane and studied microscopically after H&E and PAS staining. The findings were compared with those of age-matched untreated embryos. RESULTS: All untreated and saline embryos were normal, whereas 49% of Adriamycin embryos had foregut malformations. Tracheoesophageal separation was complete on day 12 in control embryos, whereas 9 of 10 Adriamycin-exposed embryos had a common esophagotrachea with low emergence of the bronchi at that stage. This pattern had evolved into that of a regular EA + TEF in all nine malformed embryos by day 13. On day 12.5, esophagotrachea was found in 6 of 13 and EA + TEF in 5 of 13 embryos. Two had less well-defined malformations. CONCLUSIONS: Esophagotrachea equivalent to complete tracheoesophageal cleft is the first step leading to EA + TEF in this model. The full-blown malformation is finally acquired by partial loss of the posterior wall of the foregut, which tapers-off in the mediastinal mesenchyme and respiratory differentiation of the anterior wall down to the level of bronchial bifurcation, where it constitutes the fistula and the distal esophagus.
Abnormalities, Drug-Induced↗
Cardiovascular risk factors and educational attainment in Southern Spain: a study of a random sample of 3091 adults.
STUDY OBJECTIVE: To analyze the associations between educational attainment and major cardiovascular disease risk factors in the Murcia Region (Southern Spain). DESIGN: During 1992 we conducted a survey by interview, with multi-stage random sampling, representative of the general adult population. We calculated odds ratios (OR) and trends by logistic regression as a measure of the association between educational levels and cardiovascular risk factors, taking the university level as the reference category. PARTICIPANTS: A total of 1514 men and 1577 women aged between 18 and 65 years was included in the study. Rate of response to the questionnaire was 61%. Seventy-eight percent of the respondents provided a blood sample. A telephone survey on a representative sample of non-respondents (n = 347), showed no statistical differences in the level of studies. MEASUREMENTS: We asked for educational level (highest schooling qualification completed), and according to the WHO MONICA protocol we measured: blood pressure, cigarette smoking, height, weight and total cholesterol, triglycerides and HDL-cholesterol. We also obtained the leisure-time physical activity by a validated questionnaire. MAIN RESULTS: In a context of a low level of schooling, mainly among the older age groups, the prevalence of risk factors except smoking in women is higher in the lower educational levels. Systolic blood pressure tends slightly to increase as schooling level decreases (both genders, p<0.02). Conversely, serum total cholesterol and triglycerides decrease with higher level of schooling in men. The high levels of HDL-cholesterol observed in all educational groups show no trend in both genders. Arterial hypertension in men and women and overweight in women tend to decrease with higher educational attainment. Moreover, higher level of education is associated with vigorous physical exercise in both genders and cigarette smoking in women. We observed the strongest significant magnitude association in nonschooling with hypertension in men (OR: 1.82; 95% CI: 1.15, 2.89), in women (OR: 2.39; 95% CI: 1.05, 5.44), and with overweight in women (OR: 3.22; 95% CI: 1.97, 5.27), meaning that compared to people at the university level, people without schooling showed two to three times higher prevalence of hypertension and overweight (only women). Also non-schooling obtained the lowest significant association with protective physical exercise for coronary heart disease in men (OR: 0.32; 95% CI: 0.18, 0.56) and in women (OR: 0.31; 95% CI: 0.15, 0.62) pointing out that people at the university level of education had three times the prevalence of vigorous physical activity than their non schoolarized counterparts. CONCLUSIONS: After adjusting for environmental factors, in our adult general population, educational attainment is inversely associated with arterial hypertension in both genders and with overweight in women, and directly associated with cigarette smoking in women and with leisure-time physical activity in both genders.
Adolescent↗
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA.
We describe familial multiple symmetric lipomatosis in a pedigree harboring the 8344 mutation in the tRNA(Lys) gene of mitochondrial DNA (mtDNA). The proband showed neuromuscular involvement but lacked the typical manifestations of myoclonic epilepsy and ragged-red fibers disease. The distribution of the mutation was unusual because the proportion of mutated genomes was higher in blood and lipomas than in muscle tissue.
Adult↗