PubMed Health⌕ Search

Biomedical subjects

C Lazaro

Publications and source records attributed to C Lazaro.

17 recordsLinked to original sources
PubMed2006

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Neurofibromatosis type 1 (NF1) is characterized by cafe-au-lait spots, skinfold freckling, and cutaneous neurofibromas. No obvious relationships between small mutations (<20 bp) of the NF1 gene and a specific phenotype have previously been demonstrated, which suggests that interaction with either unlinked modifying genes and/or the normal NF1 allele may be involved in the development of the particular clinical features associated with NF1. We identified 21 unrelated probands with NF1 (14 familial and 7 sporadic cases) who were all found to have the same c.2970-2972 delAAT (p.990delM) mutation but no cutaneous neurofibromas or clinically obvious plexiform neurofibromas. Molecular analysis identified the same 3-bp inframe deletion (c.2970-2972 delAAT) in exon 17 of the NF1 gene in all affected subjects. The Delta AAT mutation is predicted to result in the loss of one of two adjacent methionines (codon 991 or 992) ( Delta Met991), in conjunction with silent ACA-->ACG change of codon 990. These two methionine residues are located in a highly conserved region of neurofibromin and are expected, therefore, to have a functional role in the protein. Our data represent results from the first study to correlate a specific small mutation of the NF1 gene to the expression of a particular clinical phenotype. The biological mechanism that relates this specific mutation to the suppression of cutaneous neurofibroma development is unknown.

Adolescent↗
PubMed2006

Isolation of multipotent progenitor cells from human fetal liver capable of differentiating into liver and mesenchymal lineages.

Little is known about the differentiation capabilities of nonhematopoietic cells of the human fetal liver. We report the isolation and characterization of a human fetal liver multipotent progenitor cell (hFLMPC) population capable of differentiating into liver and mesenchymal cell lineages. Human fetal livers (74-108 days of gestation) were dissociated and maintained in culture. We treated the colonies with geneticin and mechanically isolated hFLMPCs, which were kept in an undifferentiated state by culturing on feeder layers. We derived daughter colonies by serial dilution, verifying monoclonality using the Humara assay. hFLMPCs, which have been maintained in culture for up to 100 population doublings, have a high self-renewal capability with a doubling time of 46 h. The immunophenotype is: CD34+, CD90+, c-kit+, EPCAM+, c-met+, SSEA-4+, CK18+, CK19+, albumin-, alpha-fetoprotein-, CD44h+, and vimentin+. Passage 1 (P1) and P10 cells have identical morphology, immunophenotype, telomere length, and differentiation capacity. Placed in appropriate media, hFLMPCs differentiate into hepatocytes and bile duct cells, as well as into fat, bone, cartilage, and endothelial cells. Our results suggest that hFLMPCs are mesenchymal-epithelial transitional cells, probably derived from mesendoderm. hFLMPCs survive and differentiate into functional hepatocytes in vivo when transplanted into animal models of liver disease. hFLMPCs are a valuable tool for the study of human liver development, liver injury, and hepatic repopulation.

Animals↗
PubMed2001

Laser in situ keratomileusis enhancement after photorefractive keratectomy.

OBJECTIVE: To describe the safety, effectiveness, and predictability of laser in situ keratomileusis (LASIK) for correcting residual myopia after primary photorefractive keratectomy (PRK). DESIGN: A retrospective, noncomparative case series. PARTICIPANTS AND INTERVENTION: Thirty-six consecutive eyes of 30 patients underwent LASIK after primary PRK. A Multiscan Schwind excimer laser was used for LASIK enhancement. MAIN OUTCOME MEASURES: Uncorrected visual acuity (UCVA), best spectacle-corrected visual acuity, refraction, videokeratography, and complications were determined before and after LASIK retreatment. Follow-up was at least 12 months. RESULTS: Before LASIK, 11.11% of eyes showed a UCVA of 20/40 or better. This increased to 94.44% 12 months after LASIK. A UCVA of 20/25 or better was achieved in 0% before and in 72.22% after retreatment. Refraction +/-0.5 diopters (spherical equivalent) represented 0% of eyes before and 77.78% of eyes after enhancement. Before LASIK, two eyes had significant haze. Haze remained in these two eyes and appeared in another eye. CONCLUSIONS: Laser in situ keratomileusis proved to be safe and effective for treating residual myopia after PRK. Care must be taken when considering LASIK retreatment in patients with significant haze after primary PRK.

Adult↗
PubMed2000

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.

Given q as the global frequency of the alleles causing a disease, any allele with a frequency higher than q minus the cumulative frequency of the previously known disease-causing mutations (threshold) cannot be the cause of that disease. This principle was applied to the analysis of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in order to decide whether they are the cause of cystic fibrosis. A total of 191 DNA samples from random individuals from Italy, France, and Spain were investigated by DGGE (denaturing gradient gel electrophoresis) analysis of all the coding and proximal non-coding regions of the gene. The mutations detected by DGGE were identified by sequencing. The sample size was sufficient to select essentially all mutations with a frequency of at least 0.01. A total of 46 mutations was detected, 20 of which were missense mutations. Four new mutations were identified: 1341+28 C/T, 2082 C/T, L1096R, and I11131V. Thirteen mutations (125 G/C, 875+40 A/G, TTGAn, IVS8-6 5T, IVS8-6 9T, 1525-61 A/G, M470V, 2694 T/G, 3061-65 C/A, 4002 A/G, 4521 G/A, IVS8 TG10, IVS8 TG12) were classified as non-CF-causing alleles on the basis of their frequency. The remaining mutations have a cumulative frequency far exceeding q; therefore, most of them cannot be CF-causing mutations. This is the first random survey capable of detecting all the polymorphisms of the coding sequence of a gene.

Cystic Fibrosis Transmembrane Conductance Regulato↗
PubMed1995

Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas.

The NF2 gene is a putative tumor-suppressor gene that, when it is altered in the germline, causes neurofibromatosis type 2, a tumor-susceptibility disease that mainly predisposes to schwannomas and meningiomas. The recent isolation of the NF2 gene on chromosome 22 allows the identification of somatic mutations in human tumors. We have searched for mutations of the NF2 gene in 331 primary human tumors using a screening method based on denaturing gradient gel electrophoresis, which allows the detection of mutations in 95% of the coding sequence. Mutations were observed in 17 of 57 meningiomas and in 30 of 89 schwannomas. No mutations were observed for 17 ependymomas, 70 gliomas, 23 primary melanomas, 24 pheochromocytomas, 15 neuroblastomas, 6 medulloblastomas, 15 colon cancers, and 15 breast cancers. All meningiomas and one-half of the schwannomas with identified NF2 mutations demonstrated chromosome 22 allelic losses. We conclude that the involvement of the NF2 gene in human tumorigenesis may be restricted to schwannomas and meningiomas, where it is frequently inactivated by a two-hit process.

Brain Neoplasms↗
PubMed1995

Prenatal diagnosis of neurofibromatosis type 1: from flanking RFLPs to intragenic microsatellite markers.

Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.

Bayes Theorem↗
PubMed1992

Reduction in the susceptibility of Aedes aegypti to Brugia malayi infection after treatment with ethyl methanesulfonate.

The susceptibility to Brugia malayi infections of F2 and F4 progenies of Aedes aegypti (Black Eye strain) treated with ethyl methanesulfonate (EMS) was tested. Both 3-day-old males and females were treated with 0.025, 0.050, 0.075 and 0.10% EMS. Control and treated females were then mated with normal or treated males to recover F1 progeny. F2 offspring were derived from sibling intercrosses, and 3 lines were established by further intercross matings to generate the F4. Susceptibility in the 0.025, 0.050, 0.075 and 0.10% EMS F2s was reduced by 13, 12, 4 and 25%, respectively. The 0.025% and 0.050% EMS F2 females showed a 29 to 39% decrease in mean L3 numbers. At 0.075 and 0.10% EMS, mean L3 numbers decreased by 0.8 and 71%, respectively. The F4 populations gave overall infections of 65, 56 and 22% for the control, 0.25 and 0.10% EMS lines, respectively. Mean L3s were reduced by 24 and 77%, respectively, in the 0.025 and 0.10% F4 EMS-selected populations.

Aedes↗
PubMed1990

Identifying hypertensive patients with elevated systolic workplace blood pressures.

The present study was designed to identify patients who had systolic work blood pressures that were substantially higher than their clinic blood pressures. Fifty-two mild and moderate hypertensive patients were assessed using clinic blood pressures and ambulatory blood pressure monitoring in their natural environment. Thirty-eight percent of these patients had systolic work blood pressures that were more than 10 mm Hg above their clinic blood pressures. These patients did not differ from other patients in terms of the demographic or clinical factors which were assessed. Need for control and anger, two core features of the Type A Coronary-prone Behavior Pattern, were shown to discriminate these patients on a statistically reliable basis. Research on cardiovascular reactivity to stress suggests that such patients with elevated systolic work blood pressures may be at greater risk for cardiac morbidity and mortality.

Analysis of Variance↗
PubMed1990

Longitudinal study of adverse reactions following diphtheria-tetanus-pertussis vaccine in infancy.

A prospective study of immunogenicity and adverse effects of 1553 doses of diphtheria and tetanus toxoids and whole cell pertussis vaccine (DTP) was performed in 538 children observed longitudinally from 2 months to 20 months of age. Subjects were randomized to the standard four-dose immunization schedule or to a three-dose schedule (with a saline injection substituted for DTP at 6 months of age). The three-dose schedule could not be recommended on the basis of serologic data. Compliance for completing a clinical observation form in the 48 hours following injections was greater than 99%. Fever, local reactions, or adverse behavioral effects were described in association with 96% of DTP doses and 36% of placebo injections. Contraindications to DTP immunization developed in 3% of study children. No convulsion, hypotonic hyporesponsive episode, encephalopathy, or temperature greater than 40.5 degrees C occurred. Behavioral and local inflammatory effects occurred maximally in the first 6 hours following vaccine but fever peaked later. There was no interrelationship between occurrence of local reaction and fever. Data suggest that age has more effect on the type and rate of adverse clinical events than does vaccine dose number. Existing antibody levels to vaccine components, lot of vaccine, breast-feeding, or gestational age did not affect rate or type of clinical reactions. Neither occurrence of reactions nor the use of acetaminophen affected antibody response to vaccine.

Acetaminophen↗
PubMed1989

Symptomatic zinc deficiency in breast-fed premature infants.

We report two breast-fed premature infants who developed transient symptomatic zinc deficiency with scaly erythema of cheeks and napkin area, 9-13 weeks after birth. Serum zinc concentrations were 3.6 and 4.8 mumols/l, and the lesions healed rapidly in response to oral zinc supplements. Both mothers had low breast-milk zinc levels (2.3 and 3.2 mumols/l at 21 and 15 weeks respectively). The infants were both initially misdiagnosed as having eczema and infection. Premature infants are in negative zinc balance and though the additional factor of a low maternal breast milk zinc concentration may be necessary to provoke symptoms, rashes developing in such infants in the months following premature birth should raise the suspicion of zinc deficiency.

Breast Feeding↗
PubMedDate not supplied

The white-coat hypertension response: prevalence and predictors.

This study was designed to determine the clinical characteristics of hypertensive patients whose blood pressures are substantially higher in the medical office than in their natural environments. Thirty-nine percent of patients enrolled in a nonpharmacologic hypertension treatment program had systolic or diastolic office blood pressures (OBPs) that were at least 10 mm Hg higher than their ambulatory blood pressures (ABPs). Although these white-coat responders (WCRs) had higher systolic OBPs than did non-white-coat responders (NRs), both their systolic (p less than 0.02) and their diastolic (p less than 0.0001) ABPs were significantly lower than those of NRs. Furthermore, patients with white-coat hypertension did not have greater blood pressure reactivity in their natural environments, suggesting that their blood pressure elevations may be specific to the medical setting. White-coat hypertensives were older (p less than 0.005), had less angry dispositions (p less than 0.01), and reported less overt anger expression (p less than 0.005). They were also taking more antihypertensive medications than were the other patients in the study (p less than 0.001).

Antihypertensive Agents↗