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1.
Artículo en Inglés | MEDLINE | ID: mdl-39025231

RESUMEN

OBJECTIVE: To compare the accuracy of Kane, Barrett Universal II, Haigis, and SRK-T formulas in eyes with average keratometry greater than 46 diopters (D). METHODS: A retrospective analysis was conducted on 101 eyes of 101 patients with average keratometry greater than 46 D. The absolute prediction error (EA) was obtained for each patient one month after surgery. The mean absolute prediction error (MEA), median absolute prediction error (MedEA) and the percentage of patients with absolute refractive error less than 0.25 D, 0.50 D, and 1.00 D were calculated for each formula analyzed. RESULTS: The Kane formula achieved the lowest MEA (0.53 ±â€¯0.43) and the lowest MedEA (0.41), followed by Barrett Universal II (MEA: 0.56 ±â€¯0.42, MedEA: 0.49), SRK-T (MEA: 0.59 ±â€¯0.44, MedEA: 0.54), and Haigis (MEA: 0.77 ±â€¯0.47, MedEA: 0.69), showing a significant difference in the results. It was also observed that the Kane formula was the most accurate, with the highest percentage of patients, with EA less than 0.25 D, 0.50 D, and 1.00 D (30.7%, 54.4%, and 86.1%, respectively), while the Haigis formula was the least accurate (12.9%, 33.7%, and 69.3%, respectively). CONCLUSION: In eyes with corneas having average keratometry greater than 46 D, the Kane formula proves to be a useful tool in intraocular lens (IOL) power calculation and demonstrates higher precision compared to the Barrett Universal II, SRK-T, and Haigis formulas.

2.
J Burn Care Res ; 2024 May 29.
Artículo en Inglés | MEDLINE | ID: mdl-38809717

RESUMEN

Burn care continues to improve and larger total body surface area (TBSA) burn survival is increasing. These survivors require more extensive care than smaller burns and are at higher risk for wound/scar related complications. Prior work has shown low rates of follow up for burn survivors linked to socioeconomic factors such as housing insecurity and substance use. There are limited studies that evaluate socioeconomic factors that contribute to follow up and reconstructive surgery rates in massively burned patients. Patients that survived to discharge with >50% TBSA burns and planned return to treating institution were included in the study. Univariate and multivariate analyses were performed on the data collected. Sixty-Five patients were included with an average TBSA of 63.1%. Fifty-three patients (81.5%) attended at least one follow up appointment with median of four follow-up appointments. Younger patients (33±9 vs 44±11; p=0.0006), patients with larger TBSA burns (65±13 vs 55±5%; p=0.02), those with private insurance and those without housing insecurity (1.8% vs 45.4%; p=0.003) were more likely to follow up. On multivariate regression analysis, patients with housing insecurity were independently associated with lack of follow up (OR: 0.009 CI: 0.00001-0.57). Thirty-five patients had at least one reconstructive surgery and 31 patients had reconstructive surgery after discharge. No patients with housing insecurity underwent reconstructive surgery. Follow up rates in massive burns were higher than reported for smaller TBSA burns and more than half received reconstructive surgery. Housing insecure patients should be targeted for improved follow up and access to reconstructive surgery.

3.
Heliyon ; 10(4): e26703, 2024 Feb 29.
Artículo en Inglés | MEDLINE | ID: mdl-38434012

RESUMEN

The crystallographic, optical, and electrical properties of manganese sulfide thin films depend on the control of the temperature precursors in the synthesis process, as shown by the results of this work. MnS thin films were deposited on glass substrates using the SILAR method and over an additional layer of CdS synthesized by chemical bath deposition (CBD) to acquire a p-n heterojunction. SILAR is an inexpensive method performed with a homemade robot in this case. Temperature in the solution precursors varied from 20 to 80 °C in four experiments. The morphology and structure of MnS and FTO/CdS/MnS thin films were studied through scanning electron microscopy (SEM) and grazing-incidence X-ray diffraction (GIXRD); the results indicate that materials showed a polycrystalline behavior, a diffraction peak of α- MnS cubic phase was observed with lattice constants values, ranging from 4.74 to 4.75 Å. Additionally, Raman spectroscopy showed a signal corresponding to the transversal optical phonons of MnS at a wavenumber near 300 cm-1. UV-vis spectroscopy showed optical bandgap values of 3.94, 4.0, 4.09, and 4.26 eV for thin films obtained at 20°, 40°, 60°, and 80 °C. respectively. Results indicated 80 °C as an optimal cationic precursor process temperature, achieving optical transmittance T% and good film quality according to SEM and GIXRD for the synthetization of MnS. The current-voltage (I-V) characterization in the heterojunction showed a characteristic diode curve with an open circuit voltage (VOC) of 300 mV under illumination, which indicated that the manganese sulfide behaves as p-type material contributing with positive charge carriers, while CdS behaves as n-type material.

4.
HCA Healthc J Med ; 4(1): 23-34, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37426564

RESUMEN

Background: The Mountain Area Health Education Center (MAHEC) Dental Health Center sought to learn how COVID-19 affected dental care attainment and patient perceptions of appropriate safety measures, as well as their acceptance of the dental office as a site for COVID-19 vaccinations. Methods: A cross-sectional online survey of dental patients was performed to inquire about barriers to care, safety precautions, including COVID-19 testing, and the acceptability of vaccination for COVID-19 in the dental office. All adult patients of the MAHEC Dental Health Center with an email address on file and a clinic visit in the past year were randomized for inclusion. Results: We sampled 261 adult patients; the majority were White (83.1%), female (70.1%), and over 60 years of age (60.1%). Patients who were included had visited the clinic for routine cleanings (67.2%) and dental emergency care (77.4%) in the past year. Respondents supported safety precautions at the clinic; however, there was little support for mandatory COVID-19 testing prior to a visit (14.7%). Just under half (47.3%) of respondents believed it would be appropriate for a dental office to give COVID-19 vaccinations. Conclusions: Overall, patients experienced concerns during the pandemic but still sought dental care for routine treatments and emergencies. Patients supported the use of precautionary COVID-19 safety measures at the clinic, though they did not support mandatory COVID-19 testing prior to a visit. Respondents were split on the acceptability of COVID-19 vaccination in the dental clinic.

5.
Artículo en Inglés | MEDLINE | ID: mdl-37244864

RESUMEN

OBJECTIVE: A core outcome set (COS) is the minimum agreed-on data set required to be measured in interventional trials. To date, there is no COS for oral lichen planus (OLP). This study describes the final consensus project that brought together the results of the previous stages of the project to develop the COS for OLP. STUDY DESIGN: The consensus process followed the Core Outcome Measures in Effectiveness Trials guidelines and involved the agreement of relevant stakeholders, including patients with OLP. Delphi-style clicker sessions were conducted at the World Workshop on Oral Medicine VIII and the 2022 American Academy of Oral Medicine Annual Conference. Attendees were asked to rate the importance of 15 outcome domains previously identified from a systematic review of interventional studies of OLP and a qualitative study of OLP patients. In a subsequent step, a group of OLP patients rated the domains. A further round of interactive consensus led to the final COS. RESULTS: The consensus processes led to a COS of 11 outcome domains to be measured in future trials on OLP. CONCLUSION: The COS developed by consensus will help reduce the heterogeneity of outcomes measured in interventional trials. This will allow future pooling of outcomes and data for meta-analyses. This project showed the effectiveness of a methodology that could be used for future COS development.


Asunto(s)
Liquen Plano Oral , Humanos , Liquen Plano Oral/tratamiento farmacológico , Técnica Delphi , Evaluación de Resultado en la Atención de Salud/métodos , Proyectos de Investigación , Consenso , Resultado del Tratamiento
6.
Artículo en Inglés | MEDLINE | ID: mdl-37061409

RESUMEN

OBJECTIVE: There is a lack of consensus regarding clinician- and patient-reported oral lichen planus (OLP) outcomes. The World Workshop on Oral Medicine Outcomes Initiative for the Direction of Research (WONDER) Project aims to develop a core outcome set (COS) for OLP, which would inform the design of clinical trials and, importantly, facilitate meta-analysis, leading to the establishment of more robust evidence for the management of this condition and hence improved patient care. STUDY DESIGN: Ovid MEDLINE, Embase, CINAHL, CENTRAL, and Clinicaltrials.gov were searched for interventional studies (randomized controlled trials, controlled clinical trials, and case series including ≥5 participants) on OLP and oral lichenoid reactions published between January 2001 and March 2022 without language restriction. All reported primary and secondary outcomes were extracted. RESULTS: The searches yielded 9,135 records, and 291 studies were included after applying the inclusion criteria. A total of 422 outcomes were identified. These were then grouped based on semantic similarity, condensing the list to 69 outcomes. The most frequently measured outcomes were pain (51.9%), clinical grading of the lesions (29.6%), lesion size/extension/area (27.5%), and adverse events (17.5%). CONCLUSION: As a first step in developing a COS for OLP, we summarized the outcomes that have been used in interventional studies over the past 2 decades, which are numerous and heterogeneous.


Asunto(s)
Liquen Plano Oral , Medicina Oral , Humanos , Liquen Plano Oral/tratamiento farmacológico , Liquen Plano Oral/patología , Dolor , Evaluación de Resultado en la Atención de Salud
7.
Artículo en Inglés | MEDLINE | ID: mdl-37069037

RESUMEN

OBJECTIVE: This study aimed to explore the lived experience of patients with oral lichen planus (OLP) and investigate what treatment-related outcomes are the most important to them and should be included in a core outcome set (COS) for OLP. STUDY DESIGN: A qualitative study involving focus group work with 10 participants was conducted. Interviews with each focus group were held twice: session 1 explored the lived experience of patients with OLP, and session 2 allowed patients to review a summary of the outcome domains used in the OLP literature to date. The discussions were recorded, transcribed verbatim, and analyzed using framework analysis. RESULTS: In session 1, 4 themes and 8 sub-themes emerged from the data analysis. An additional outcome, 'knowledge of family and friends,' was suggested in session 2. CONCLUSIONS: We have gained valuable insight into the lived experience of patients with OLP via this qualitative study. To our knowledge, this study is the first to explore the patient perspective on what should be measured in clinical trials on OLP, highlighting an important additional suggested outcome. This additional outcome will be voted upon in a consensus process to determine a minimum COS for OLP.


Asunto(s)
Liquen Plano Oral , Humanos , Liquen Plano Oral/tratamiento farmacológico , Evaluación de Resultado en la Atención de Salud
8.
PPAR Res ; 2023: 1743289, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36875280

RESUMEN

Obesity and diabetes mellitus are considered the most important diseases of the XXI century. Recently, many epidemiological studies have linked exposure to pesticides to the development of obesity and type 2 diabetes mellitus. The role of pesticides and their possible influence on the development of these diseases was investigated by examining the relationship between these compounds and one of the major nuclear receptor families controlling lipid and carbohydrate metabolism: the peroxisome proliferator-activated receptors (PPARs), PPARα, PPARß/δ, and PPARγ; this was possible through in silico, in vitro, and in vivo assays. The present review aims to show the effect of pesticides on PPARs and their contribution to the changes in energy metabolism that enable the development of obesity and type 2 diabetes mellitus.

9.
Braz J Biol ; 84: e264425, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36722676

RESUMEN

The ixodicidal activity of the methanolic extracts of Artemisia ludoviciana (Astereceae), Cordia boissieri (Boraginaceae) and Litchi chinensis (Sapindaceae) against two field populations of Rhipicephalus (Boophilus) microplus from the state of Nuevo Leon (NL) and Veracruz (VER) was evaluated. The extract of L. chinensis in the concentration of 150 mg/ml showed efficacies of 100% and 99% against engorged females and mortalities of 98% and 99% against larvae. C. boissieri in the same concentration showed efficacies of 71% and 37% against engorged adults and mortalities of 33.04% and 10.33% against larvae and A. ludoviciana had efficacies of 94% and 83% in adults and mortalities of 89.39% and 89.21% against larvae in both populations respectively. The enzymatic activity of Acetylcholinesterase (AChE), Carboxylesterase (CaE), Glutathione-S-Transferase (GST) and Alkaline Phosphatase (ALP) was measured in both populations of ticks. As a result, a significant difference between both populations was shown, being the VER population the one that exhibited a higher enzymatic activity (p ≤ 0.05). It can be concluded that the methanolic extract of the seed of L. chinensis shows potential ixodicidal activity and can be used as an alternative source of tick control, however, prior characterization, toxicity and formulation studies are necessary.


Asunto(s)
Artemisia , Cordia , Ixodidae , Litchi , Rhipicephalus , Femenino , Animales , Acetilcolinesterasa , Glutatión Transferasa , Larva , Metanol , Extractos Vegetales/farmacología
10.
Sci Rep ; 11(1): 24373, 2021 12 21.
Artículo en Inglés | MEDLINE | ID: mdl-34934118

RESUMEN

Gestational Diabetes Mellitus (GDM) and obesity affect the functioning of multiple maternal systems and influence colonization of the newborn gastrointestinal through the breastmilk microbiota (BMM). It is currently unclear how GDM and obesity affect the human BMM composition. Here, we applied 16S-rRNA high-throughput sequencing to human colostrum milk to characterize BMM taxonomic changes in a cohort of 43 individuals classified in six subgroups according to mothers patho-physiological conditions (healthy control (n = 18), GDM (n = 13), or obesity (n = 12)) and newborn gender. Using various diversity indicators, including Shannon/Faith phylogenetic index and UniFrac/robust Aitchison distances, we evidenced that BMM composition was influenced by the infant gender in the obesity subgroup. In addition, the GDM group presented higher microbial diversity compared to the control group. Staphylococcus, Corynebacterium 1, Anaerococcus and Prevotella were overrepresented in colostrum from women with either obesity or GDM, compared to control samples. Finally, Rhodobacteraceae was distinct for GDM and 5 families (Bdellovibrionaceae, Halomonadaceae, Shewanellaceae, Saccharimonadales and Vibrionaceae) were distinct for obesity subgroups with an absolute effect size greater than 1 and a q-value ≤ 0.05. This study represents the first effort to describe the impact of maternal GDM and obesity on BMM.


Asunto(s)
Bacterias/genética , Calostro/microbiología , Diabetes Gestacional/microbiología , Microbioma Gastrointestinal , Tracto Gastrointestinal/microbiología , Leche Humana/microbiología , Obesidad/microbiología , Adulto , Bacterias/clasificación , Bacterias/aislamiento & purificación , Índice de Masa Corporal , Femenino , Humanos , Recién Nacido , Masculino , Filogenia , Embarazo
11.
RSC Adv ; 11(21): 12951-12960, 2021 Mar 29.
Artículo en Inglés | MEDLINE | ID: mdl-35423826

RESUMEN

Molecular dynamics simulations reveal the behavior of the bimodal distribution of cation conformations (folded/unfolded) in ionic liquids based on alkylated imidazoles, such as [BMIM+][BF4 -]. The alkyl chains of the cations can fold and block interactions between the cations and anions, thereby reducing the cohesivity of the liquid. At room temperature, the folded conformations represent less than one-third of the total conformations. In contrast to the behavior observed during the thermal denaturation of proteins, in ionic liquids, the concentration of folded cations grows when the temperature increases. At the equimolar concentration, the system reaches the reported experimental temperature of thermal stability (similar to the thermal denaturation behavior). There is an outermost layer of cations at the interface that can tilt toward the interface and cover a layer of anions adsorbed at the interface. This interfacial conformation makes the system stable in transverse directions and unstable in the normal direction at temperatures in the region of thermal instability, limiting the rate of vaporization of neutral ion pairs, which are observed as rare events at temperatures as low as 773.15 K.

12.
Artículo en Inglés | MEDLINE | ID: mdl-32044267

RESUMEN

OBJECTIVE: The aim of this study was to determine the prevalence and the factors associated with symptomatic oral lichen planus (OLP). STUDY DESIGN: Patients with OLP seen for an initial visit were assessed retrospectively. Initial visit data included demographic characteristics; social, medical, and OLP treatment histories; medications; chief complaints, 0 to 10 pain level; OLP duration and symptoms; OLP type and location; total OLP lesion size (mm2); total ulcer size (mm2); and fungal infection and its management. Follow-up data included 0 to 10 pain level and total lesion and ulcer sizes. RESULTS: We assessed 205 patients: 154 (75%) were women, and the mean (standard deviation [SD]) age was 62.5 (11.5) years. The mean (SD) current pain level was 1.6 (2.2) at the initial visit. A total of 125 patients (61%) were classified as symptomatic, including 85 (41%) patients reporting a pain level of 1 or greater and another 40 patients (20%) who had symptoms not described as pain at the initial visit. The following increased the odds of OLP symptoms at the initial visit: tongue location (× 2.3), erosive/erythematous type (× 2.3), female sex (× 2.9), topical steroid use before initial visit (× 2.1), and number of medical conditions (× 1.2). CONCLUSIONS: Most patients with OLP in the present cohort were symptomatic at the initial visit, with location, type, sex, steroid use and medical conditions being predictors of symptomatic OLP. Despite improvement in OLP symptoms in most patients over time, 25% of patients who are asymptomatic at the initial visit present with symptomatic OLP at a future visit.


Asunto(s)
Liquen Plano Oral , Micosis , Enfermedades de la Lengua , Femenino , Humanos , Estudios Retrospectivos , Esteroides
13.
Asian-Australas J Anim Sci ; 29(6): 823-9, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26954187

RESUMEN

Eight Holstein steers (216±48 kg body weight) fitted with ruminal and duodenal cannulas were used to evaluate effects of wheat straw processing (ground vs pelleted) at two straw inclusion rates (7% and 14%; dry matter basis) in dry rolled or steam-flaked corn-based finishing diets on characteristics of digestion. The experimental design was a split plot consisting of two simultaneous 4×4 Latin squares. Increasing straw level reduced ruminal (p<0.01) and total tract (p = 0.03) organic matter (OM) digestion. As expected, increasing wheat straw level from 7% to 14% decreased (p<0.05) ruminal and total tract digestion of OM. Digestion of neutral detergent fiber (NDF) and starch, per se, were not affected (p>0.10) by wheat straw level. Likewise, straw level did not influence ruminal acetate and propionate molar proportions or estimated methane production (p>0.10). Pelleting straw did not affect (p≥0.48) ruminal digestion of OM, NDF, and starch, or microbial efficiency. Ruminal feed N digestion was greater (7.4%; p = 0.02) for ground than for pelleted wheat straw diets. Although ruminal starch digestion was not affected by straw processing, post-ruminal (p<0.01), and total-tract starch (p = 0.05) digestion were greater for ground than for pelleted wheat straw diets, resulting in a tendency for increased post-ruminal (p = 0.06) and total tract (p = 0.07) OM digestion. Pelleting wheat straw decreased (p<0.01) ruminal pH, although ruminal volatile fatty acids (VFA) concentration and estimated methane were not affected (p≥0.27). Ruminal digestion of OM and starch, and post-ruminal and total tract digestion of OM, starch and N were greater (p<0.01) for steam-flaked than for dry rolled corn-based diets. Ruminal NDF digestion was greater (p = 0.02) for dry rolled than for steam-flaked corn, although total tract NDF digestion was unaffected (p = 0.94). Ruminal microbial efficiency and ruminal degradation of feed N were not affected (p>0.14) by corn processing. However, microbial N flow to the small intestine and ruminal N efficiency (non-ammonia N flow to the small intestine/N intake) were greater (p<0.01) for steam-flaked than for dry rolled corn-based diets. Ruminal pH and total VFA concentration were not affected (p≥ 0.16) by corn processing method. Compared with dry rolled corn, steam-flaked corn-based diets resulted in decreased acetate:propionate molar ratio (p = 0.02). It is concluded that at 7% or 14% straw inclusion rate, changes in physical characteristics of wheat straw brought about by pelleting negatively impact OM digestion of both steam-flaked and dry-rolled corn-based finishing diets. This effect is due to decreased post-ruminal starch digestion. Replacement of ground straw with pelleted straw also may decrease ruminal pH.

14.
Food Chem ; 200: 16-23, 2016 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-26830555

RESUMEN

There are very few reports on the self-assembly of peptides derived from proteins of agro industrial byproducts origin. Although it has been claimed that purity is a determining factor in peptide self-assembly, whether proteins extracted using water along with other components also form self-assembled structures is not known. The results of this work prove that albumins from wheat bran, a byproduct obtained from the milling industry, can form tubular nanostructures during their hydrolysis with the V8 protease in the presence of Ca(2+). Electron microscopy of the hydrolysate revealed that under specific conditions, long filaments are formed, which are nanotubes of several microns in length, with inner and outer diameters of 100 and 200 nm, respectively. The infrared analysis of the hydrolysate identified (-)OOC-Ca(2+) interactions and changes in beta sheet content in response to variations in protein/V8/Ca(2+) molar ratios. A model that explains the probable mechanism of the observed self-assembly is discussed.


Asunto(s)
Albúminas/química , Calcio/química , Fibras de la Dieta/análisis , Nanoestructuras/química , Serina Endopeptidasas/química , Nanotubos/química , Péptidos/química , Proteolisis
16.
Leukemia ; 28(11): 2188-96, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24699307

RESUMEN

Ibrutinib and other targeted inhibitors of B-cell receptor signaling achieve impressive clinical results for patients with chronic lymphocytic leukemia (CLL). A treatment-induced rise in absolute lymphocyte count (ALC) has emerged as a class effect of kinase inhibitors in CLL and warrants further investigation. Here we report correlative studies in 64 patients with CLL treated with ibrutinib. We quantified tumor burden in blood, lymph nodes (LNs), spleen and bone marrow, assessed phenotypic changes of circulating cells and measured whole-blood viscosity. With just one dose of ibrutinib, the average increase in ALC was 66%, and in>40% of patients the ALC peaked within 24 h of initiating treatment. Circulating CLL cells on day 2 showed increased Ki67 and CD38 expression, indicating an efflux of tumor cells from the tissue compartments into the blood. The kinetics and degree of the treatment-induced lymphocytosis was highly variable; interestingly, in patients with a high baseline ALC the relative increase was mild and resolution rapid. After two cycles of treatment the disease burden in the LN, bone marrow and spleen decreased irrespective of the relative change in ALC. Whole-blood viscosity was dependent on both ALC and hemoglobin. No adverse events were attributed to the lymphocytosis.


Asunto(s)
Leucemia Linfocítica Crónica de Células B/tratamiento farmacológico , Linfocitosis/inducido químicamente , Pirazoles/uso terapéutico , Pirimidinas/uso terapéutico , Receptores de Antígenos de Linfocitos B/antagonistas & inhibidores , Transducción de Señal/efectos de los fármacos , Adenina/análogos & derivados , Anciano , Viscosidad Sanguínea/efectos de los fármacos , Femenino , Hemoglobinas/metabolismo , Humanos , Leucemia Linfocítica Crónica de Células B/sangre , Recuento de Linfocitos , Masculino , Modelos Biológicos , Piperidinas , Carga Tumoral/efectos de los fármacos
17.
West Indian Med J ; 63(5): 528-31, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25781296

RESUMEN

Myeloproliferative neoplasms (MPN) are considered a risk factor for Budd-Chiari syndrome (BCS). The current classification of MPN by the World Health Organization is based on the presence of JAK-2 V617F somatic mutation, which is present in 40 to 60% of patients with BCS. Factor V Leiden mutation is found in around 53% of patients with BCS, representing the most common prothrombotic disease associated with the disorder. We describe a 48-year old woman with a past medical history of deep venous thrombosis in the left upper extremity and one episode in both lower extremities, one episode of transient ischaemic attack and essential thrombocythemia, who presented with jaundice, ascites and hepatomegaly. Budd-Chiari syndrome was diagnosed based on findings on Doppler ultrasound and liver biopsy. Doppler ultrasound showed narrowness of hepatic veins and inferior vena cava in its hepatic portion, diffuse echotexture and portal hypertension. Liver biopsy showed congestion of sinusoids and portal fibrosis. The patient was found to be a heterozygous carrier of Factor V and homozygous wild type G20210A prothrombin mutations. The JAK-2 V617F mutation was detected by allele-specific polymerase chain reaction (AS-PCR). The association of these mutations is rare, with only a few cases reported in the literature. The patient was treated with oral anticoagulation and antiplatelets with good results and proper follow-up. In conclusion, due to the possible coexistence of multiple prothrombotic factors in patients with Budd-Chiari syndrome, the approach to these patients must be focussed on searching for multiple factors and should include the JAK-2 V617F mutation.

18.
Mol Genet Metab Rep ; 1: 203-212, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-27896089

RESUMEN

Patients with ARCL-IIA harbor mutations in ATP6V0A2 that codes for an organelle proton pump. The ARCL-IIA syndrome characteristically presents a combined glycosylation defect affecting N-linked and O-linked glycosylations, differentiating it from other cutis laxa syndromes and classifying it as a Congenital Disorder of Glycosylation (ATP6V0A2-CDG). We studied two Mexican Mestizo patients with a clinical phenotype corresponding to an ARCL-IIA syndrome. Both patients presented abnormal transferrin (N-linked) glycosylation but Patient 1 had a normal ApoCIII (O-linked) glycosylation profile. Mutational screening of ATP6V0A2 using cDNA and genomic DNA revealed in Patient 1 a previously reported homozygous nonsense mutation c.187C>T (p.R63X) associated with a novel clinical finding of a VSD. In Patient 2 we found a homozygous c.2293C>T (p.Q765X) mutation that had been previously reported but found that it also altered RNA processing generating a novel transcript not previously identified (r.2176_2293del; p.F726Sfs*10). This is the first report to describe Mestizo patients with molecular diagnosis of ARCL-IIA/ATP6V0A2-CDG and to establish that their mutations are the first to be found in patients from different regions of the world and with different genetic backgrounds.

19.
QJM ; 106(11): 1023-9, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23824939

RESUMEN

BACKGROUND: Cuba is a unique country, and despite limited economic development, has an excellent health system. However, the prevalence of asthma symptoms in children in Havana, Cuba, is unusually high. AIM: As early life exposures are critical to the aetiology of asthma, we have studied environmental influences on the risk of wheezing in Cuban infants. DESIGN: Cross-sectional study. METHODS: A random sample of 2032 children aged 12-15 months living in Havana was selected for inclusion in the cohort. Data were collected using questionnaires administered by researchers. RESULTS: Of 2032 infants invited to participate, 1956 (96%) infants provided data. The prevalence of any wheeze was 45%, severe wheeze requiring use of emergency services was 30% and recurrent wheeze on three or more occasions was 20%. The largest adjusted risk factors for any wheeze were presence of eczema [odds ratio (OR) 2.09; 95% confidence interval (CI) 1.48-2.94], family history of asthma (OR 2.05; 95% CI 1.60-2.62), poor ventilation in the house (OR 1.99; 95% CI 1.48-2.67), attendance at nursery (OR 1.78; 95% CI 1.24-2.57), male sex (OR1.52; 95% CI 1.19-1.96) and the number of smokers in the house (P < 0.03 for trend), OR 1.64 (95% CI 1.17-2.31) for three or more smokers in the house compared to no smokers in the household. CONCLUSION: We have identified several risk factors for any wheeze in young infants living in modern day Cuba. As the prevalence of smoking in the house is high (51%), intervention studies are required to determine effective strategies to improve infant health.


Asunto(s)
Asma/epidemiología , Ruidos Respiratorios/etiología , Fumar/efectos adversos , Asma/etiología , Estudios Transversales , Cuba/epidemiología , Eccema/epidemiología , Salud de la Familia , Femenino , Humanos , Lactante , Masculino , Oportunidad Relativa , Factores de Riesgo , Escuelas de Párvulos , Factores Sexuales , Hermanos , Ventilación/estadística & datos numéricos
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