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1.
Vet Ophthalmol ; 2024 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-38519851

RESUMO

An approximately 1.5-year-old mixed breed heifer was presented for evaluation and treatment due to ocular pain affecting the right eye secondary to a live nematode within the anterior chamber. Ophthalmic examination revealed marked blepharospasm, evidence of chronic keratitis, uveitis, and a single, white, approximately 2.5 cm long, 0.5 mm thick, living parasite. The heifer underwent general anesthesia, and the parasite was removed using passive aqueous humor outflow following a stab incision into the anterior chamber. Twenty-four hours after removal of the intraocular parasite, the heifer displayed a significant improvement in ocular comfort, corneal edema, and uveitis. The nematode was identified via genetic analyses as Parafilaria bovicola, a filarial parasite of cattle. The heifer was discharged 5 days following nematode removal with a marked improvement in all ocular signs and apparently normal vision. To the authors' knowledge, there are no previous reports of confirmed intraocular filariosis caused by P. bovicola in the veterinary literature, nor are there reports detailing surgical removal of intraocular parasites in bovids.

2.
BMC Vet Res ; 19(1): 227, 2023 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-37919690

RESUMO

BACKGROUND: Infectious keratitis is a common ophthalmic condition in canine patients. Sequelae can include keratomalacia and corneal perforation, a vision threatening outcome. Photoactivated chromophore for keratitis - corneal cross-linking (PACK-CXL) is a non-surgical, adjunctive treatment method for infectious keratitis. The goal of this retrospective, multicenter study was to determine risk factors for treatment failure following PACK-CXL in canine patients suffering from suspected infectious keratitis. Medical records from four veterinary ophthalmology services were reviewed, and information related to patient demographics, ophthalmic findings, the PACK-CXL protocol used, and epithelialization time was collected and analyzed. Due to the potential for intervariable relationships, an additive Bayesian network (ABN) analysis was performed to evaluate these complex relationships. RESULTS: Records for 671 eyes (668 dogs) were included in the analysis. Based on the ABN, in the population included here, patients who underwent an accelerated PACK-CXL protocol were less likely to experience treatment failure versus patients treated with a slow protocol. Mutual dependencies between exposure variables were identified by ABN, which would have been overlooked using classical regression. Corneal re-epithelialization time was shortened following PACK-CXL combined with topical medical therapy compared to PACK-CXL alone. CONCLUSIONS: No risk factors associated with treatment failure were identified in the population included in the present study. Canine patients may benefit from the use of accelerated PACK-CXL protocols, especially when combined with topical antibiotics and anti-collagenolytic therapy. The reasons for this apparent positive impact on treatment outcome remain unclear.


Assuntos
Doenças do Cão , Infecções Oculares Bacterianas , Ceratite , Fotoquimioterapia , Animais , Cães , Teorema de Bayes , Crosslinking Corneano/veterinária , Reagentes de Ligações Cruzadas/uso terapêutico , Doenças do Cão/tratamento farmacológico , Infecções Oculares Bacterianas/tratamento farmacológico , Infecções Oculares Bacterianas/veterinária , Ceratite/tratamento farmacológico , Ceratite/veterinária , Fotoquimioterapia/veterinária , Fotoquimioterapia/métodos , Fármacos Fotossensibilizantes/uso terapêutico , Estudos Retrospectivos , Fatores de Risco , Falha de Tratamento , Raios Ultravioleta
3.
Environ Monit Assess ; 194(11): 827, 2022 Sep 26.
Artigo em Inglês | MEDLINE | ID: mdl-36156160

RESUMO

The current research focuses on the use of different simulation techniques in the future prediction of the crucial aerosol optical properties over the highly polluted Indo-Gangetic Basin in the northern part of India. The time series model was used to make an accurate forecast of aerosol optical depth (AOD) and angstrom exponent (AE), and the statistical variability of both cases was compared in order to evaluate the effectiveness of the model (training and validation). For this, different models were used to simulate the monthly average AOD and AE over Jaipur, Kanpur and Ballia during the period from 2003 to 2018. Further, the study was aimed to construct a comparative model that will be used for time series statistical analysis of MODIS-derived AOD550 and AE412-470. This will provide a more comprehensive information about the levels of AOD and AE that will exist in the future. To test the validity and applicability of the developed models, root-mean-square error (RMSE), mean absolute error (MAE), mean absolute percent error (MAPE), fractional bias (FB), and Pearson coefficient (r) were used to show adequate accuracy in model performance. From the observation, the monthly mean values of AOD and AE were found to be nearly similar at Kanpur and Ballia (0.62 and 1.26) and different at Jaipur (0.25 and 1.14). Jaipur indicates that during the pre-monsoon season, the AOD mean value was found to be highest (0.32 ± 0.15), while Kanpur and Ballia display higher AOD mean values during the winter season (0.72 ± 0.26 and 0.83 ± 0.32, respectively). Among the different methods, the autoregressive integrated moving average (ARIMA) model was found to be the best-suited model for AOD prediction at Ballia based on fitted error (RMSE (0.22), MAE (0.15), MAPE (24.55), FB (0.05)) and Pearson coefficient r (0.83). However, for AE, best prediction was found at Kanpur based on RMSE (0.24), MAE (0.21), MAPE (22.54), FB (-0.09) and Pearson coefficient r (0.82).


Assuntos
Poluentes Atmosféricos , Aerossóis/análise , Poluentes Atmosféricos/análise , Monitoramento Ambiental/métodos , Índia , Meteorologia
4.
Insect Mol Biol ; 30(2): 231-240, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33368750

RESUMO

The N-methyl-d-aspartate receptors (NMDARs) are ionotropic ligand gated channels that are highly permeable to calcium ions. In insects, NMDARs are associated with glutamatergic neurotransmission governing diverse physiological and biological processes like vitellogenesis and ovarian development. Therefore, NMDAR may act as attractive target for insect pest control. In present study, we performed structural and functional characterization of NMDARs in Bemisia tabaci, a highly invasive crop pest and potent virus vector. We identified that NMDAR consists of three subunits each encoded by single gene in whiteflies which are highly conserved among different insect orders. Expression analysis suggests that subunit 1 (BtNR1) and subunit 2 (BtNR2) are the main functional units. External supplementation of NMDAR ligand or BtNRs silencing was lethal to insects, which suggested that NMDAR function is highly balanced in whiteflies.


Assuntos
Hemípteros/metabolismo , Receptores de N-Metil-D-Aspartato/química , Receptores de N-Metil-D-Aspartato/genética , Animais , Hemípteros/química , Hemípteros/genética , Proteínas de Insetos , Conformação Molecular , Filogenia , Interferência de RNA , Receptores de N-Metil-D-Aspartato/metabolismo
5.
Indian J Clin Biochem ; 35(1): 127-131, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32071506

RESUMO

Serum prostatic specific antigen (PSA) and serum testosterone levels share an undefined relationship with each other, with many conflicting studies showing both positive and negative correlation between them. Our aim was to assess association between serum PSA and serum testosterone in healthy men with normal testosterone levels and men with partial androgen deficiency (PADAM). A cross sectional study was conducted at a teaching hospital setting where serum testosterone and aging male symptom scale (AMS) scores along with PSA were studied in 255 men (> 50 years) with and without PADAM. Mean total testosterone and serum PSA was 9.35 ± 1.33 nmol/L, 1.96 ± 0.76 ng/mL in males with PADAM and 15.30 ± 1.95 nmol/L, 1.85 ± 0.73 ng/mL respectively in males without PADAM. No significant relationship was observed between serum PSA and serum testosterone levels among healthy males irrespective of PADAM in the study population. We suggest, there is no need to adjust PSA values for biopsy decisions according to testosterone levels.

6.
J Synchrotron Radiat ; 26(Pt 1): 263-271, 2019 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-30655494

RESUMO

GALAXIES is an in-vacuum undulator hard X-ray micro-focused beamline dedicated to the study of the electronic structure of materials with high energy resolution using both photoelectron spectroscopy and inelastic X-ray scattering and under both non-resonant (NR-IXS) and resonant (RIXS) conditions. Due to the penetrating power of hard X-rays and the `photon-in/photon-out' technique, the sample environment is not a limitation. Materials under extreme conditions, for example in diamond anvil cells or catalysis chambers, thus constitute a major research direction. Here, the design and performance of the inelastic X-ray scattering end-station that operates in the energy range from ∼4 keV up to 12 keV is reported, and its capabilities are highlighted using a selection of data taken from recently performed experiments. The ability to scan `on the fly' the incident and scattered/emitted X-ray energies, and the sample position enables fast data collection and high experimental throughput. A diamond X-ray transmission phase retarder, which can be used to generate circularly polarized light, will also be discussed in the light of the recent RIXS-MCD approach.

7.
BJOG ; 126 Suppl 4: 72-80, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31309706

RESUMO

OBJECTIVE: The National Family Health Survey-4 in India provided the first nationally representative estimates of hysterectomy among women aged 15-49. This paper aims to examine the national and state-level age-specific prevalence of hysterectomy, individual and household level factors associated with the procedure, and state-level indicators that may explain variation across states. DESIGN: Cross-sectional, nationally representative household survey. SETTING: National Family Health Survey was conducted across all Indian states and union territories between 2015 and 2016. POPULATION: The survey covered 699 686 women between the ages of 15 and 49 years. METHODS: Descriptive analyses and multivariate logistic regression. MAIN OUTCOME MEASURES: Women who reported ever having a hysterectomy and age at hysterectomy. RESULTS: Age-specific prevalence of hysterectomy was 0.36% (0.33,0.39) among women aged 15-29; 3.59% (3.45,3.74) among women aged 30-39; and 9.20% (8.94,9.46) among women 40-49 years. There was considerable variation in prevalence by state. Four states reported age-specific prevalence similar to high-income settings. Approximately two-thirds of hysterectomies were conducted in private facilities, with similar patterns across age groups. At the national level, higher age and parity (at least two children); not having had formal schooling; rural residence (adjusted odds ratio [AOR] 1.36; 95% CI 1.27,1.45; P < 0.01) and higher wealth status were associated with higher odds of hysterectomy. Previously sterilised women had lower odds (AOR 0.64; 95% CI 0.61,0,68; P < 0.01) of reporting hysterectomy. Exploratory analyses suggest state-level factors associated with prevalence of hysterectomy include caesarean section, female illiteracy, and women's employment. CONCLUSIONS: Hysterectomy patterns among women aged 15-49 in India indicate the critical need to ensure treatment options for gynaecological morbidity and to address hysterectomy among young women in particular. FUNDING: This study was part of the RASTA initiative of the Population Council's India country office under the Evidence Project supported by USAID. TWEETABLE ABSTRACT: Hysterectomy patterns in India highlight the need for alternatives to treat gynaecological morbidity among younger women.


Assuntos
Histerectomia/estatística & dados numéricos , Saúde da Mulher , Adolescente , Adulto , Distribuição por Idade , Estudos Transversais , Feminino , Inquéritos Epidemiológicos , Humanos , Índia/epidemiologia , Modelos Logísticos , Pessoa de Meia-Idade , Prevalência , Fatores Socioeconômicos , Doenças Uterinas/epidemiologia , Doenças Uterinas/cirurgia , Adulto Jovem
9.
Environ Monit Assess ; 191(2): 98, 2019 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-30675638

RESUMO

Land use and land cover (LULC) change have considerable influence on ecosystem services. Assessing change in ecosystem services due to LULC change at different spatial and temporal scales will help to identify suitable management practices for sustaining ecosystem productivity and maintaining the ecological balance. The objective of this study was to investigate variations in ecosystem services in response to LULC change over 27 years in four agro-climatic zones (ACZ) of eastern India using satellite imagery for the year 1989, 1996, 2005, 2011 (Landsat TM) and 2016 (Landsat 8 OLI). The satellite images were classified into six LULC classes, agriculture land, forest, waterbody, wasteland, built-up, and mining area. During the study period (1989 to 2016), forest cover reduced by 5.2%, 13.7%, and 3.6% in Sambalpur, Keonjhar, and Kandhamal districts of Odisha, respectively. In Balasore, agricultural land reduced by 17.2% due to its conversion to built-up land. The value of ecosystem services per unit area followed the order of waterbodies > agricultural land > forests. A different set of indicators, e.g., by explicitly including diversity, could change the rank between these land uses, so the temporal trends within a land use are more important than the absolute values. Total ecosystem services increased by US$ 1296.4 × 105 (50.74%), US$ 1100.7 × 105 (98.52%), US$ 1867 × 105 (61.64%), and US$ 1242.6 × 105 (46.13%) for Sambalpur, Balasore, Kandhamal, and Keonjhar, respectively.


Assuntos
Mudança Climática , Conservação dos Recursos Naturais/métodos , Monitoramento Ambiental/métodos , Agricultura/métodos , Ecossistema , Florestas , Índia , Mineração , Imagens de Satélites/métodos
10.
Clin Genet ; 94(1): 159-164, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29566257

RESUMO

The location and/or type of variants in FLNB result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis syndrome and Larsen syndrome, to severe perinatal lethal forms, such as atelosteogenesis I and III and Boomerang dysplasia. Spondylocarpotarsal synostosis syndrome is characterized by disproportionate short stature, vertebral anomalies and fusion of carpal and tarsal bones. Biallelic loss-of-function variants in FLNB are known to cause spondylocarpotarsal synostosis syndrome and 9 families and 9 pathogenic variants have been reported so far. We report clinical features of 10 additional patients from 7 families with spondylocarpotarsal synostosis syndrome due to 7 novel deleterious variants in FLNB, thus expanding the clinical and molecular repertoire of spondylocarpotarsal synostosis syndrome. Our report validates key clinical (fused thoracic vertebrae and carpal and tarsal coalition) and molecular (truncating variants in FLNB) characteristics of this condition.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Alelos , Filaminas/genética , Variação Genética , Vértebras Lombares/anormalidades , Doenças Musculoesqueléticas/diagnóstico , Doenças Musculoesqueléticas/genética , Escoliose/congênito , Sinostose/diagnóstico , Sinostose/genética , Vértebras Torácicas/anormalidades , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Masculino , Linhagem , Fenótipo , Radiografia , Escoliose/diagnóstico , Escoliose/genética , Síndrome
12.
J Postgrad Med ; 64(2): 98-103, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29692401

RESUMO

We aimed to review the contributions by Indian researchers to the subspecialty of skeletal dysplasias (SDs). Literature search using specific keywords in PubMed was performed to retrieve all the published literature on SDs as on July 6, 2017. All published literature on SDs wherein at least one author was from an Indian institute was included. Publications were grouped into different categories based on the major emphasis of the research paper. Five hundred and forty publications in English language were retrieved and categorized into five different groups. The publications were categorized as reports based on: (i) phenotypes (n = 437), (ii) mutations (n = 51), (iii) novel genes (n = 9), (iv) therapeutic interventions (n = 31), and (v) reviews (n = 12). Most of the publications were single-patient case reports describing the clinical and radiological features of the patients affected with SDs (n = 352). We enlisted all the significant Indian contributions. We have also highlighted the reports in which Indians have contributed to discovery of new genes and phenotypes. This review highlights the substantial Indian contributions to SD research, which is poised to reach even greater heights given the size and structure of our population, technological advances, and expanding national and international collaborations.


Assuntos
Bibliometria , Pesquisa Biomédica , Osteocondrodisplasias , Humanos , Índia , Editoração
13.
Clin Exp Immunol ; 187(3): 480-489, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-27861762

RESUMO

In Asia, enthesitis-related arthritis (ERA) is the most frequent category of juvenile idiopathic arthritis. ERA has a strong association with human leucocyte antigen (HLA)-B27 and subclinical gut inflammation. In an HLA-B27 transgenic rat model, the presence of Bacteroides bacteria in the gut appears to cause spondyloarthropathy (SpA). Thus, we studied gut microbiota in children with ERA. Stool specimens from 33 patients with ERA and 14 age-matched healthy controls were studied; none had any gastrointestinal symptom, or had received a drug known to affect gut motility or microbiota in the preceding 6 weeks. From each specimen, a cDNA library for the V3 region of bacterial 16S rRNA was subjected to high-throughput, massively parallel sequencing. Relationship of the specimens was studied using principal co-ordinate analysis (PCoA), and abundances of various bacterial taxa and alpha diversity were compared between groups. In eight patients, a repeat faecal specimen was studied after 12 weeks of probiotic therapy. The 55 specimens yielded a median (range) of 397 315 (102 093-1 502 380) high-quality reads each. In PCoA, gut microbiota from ERA showed a wider dispersion than those from controls. In patients, families Bacteroidaceae and Enterobacteriaceae were more abundant and Prevotellaceae were less abundant than in controls. Also, genera Bacteroides, Entercoccus and Klebsiella were over-represented and genus Prevotella was under-represented in ERA patients. Probiotic therapy led to a non-significant increase in Prevotellaceae. Patients with ERA have a dysbiosis in the gut, with increased abundance of Bacteroides and reduction of Prevotella. Probiotic supplementation in a subset of patients did not reverse these changes significantly.


Assuntos
Artrite Juvenil/tratamento farmacológico , Artrite Juvenil/microbiologia , Microbioma Gastrointestinal/efeitos dos fármacos , Probióticos/administração & dosagem , Adolescente , Adulto , Bactérias/efeitos dos fármacos , Estudos de Casos e Controles , Criança , Pré-Escolar , Países em Desenvolvimento , Disbiose/tratamento farmacológico , Disbiose/microbiologia , Fezes/microbiologia , Feminino , Antígeno HLA-B27/metabolismo , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Masculino , Microbiota/efeitos dos fármacos , Adulto Jovem
14.
J Viral Hepat ; 24(5): 371-379, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-27933698

RESUMO

Until 2014, pegylated interferon plus ribavirin was the recommended standard of care for the treatment of chronic hepatitis C virus (HCV) infection in India. This open-label phase 3b study, conducted across 14 sites in India between 31 March 2014 and 30 November 2015, evaluated the efficacy and safety of sofosbuvir plus ribavirin therapy among treatment-naïve patients with chronic genotype 1 or 3 HCV infection. A total of 117 patients with genotype 1 or 3 HCV infection were randomized 1:1 to receive sofosbuvir 400 mg and weight-based ribavirin (1000 or 1200 mg) daily for 16 or 24 weeks. Among those with genotype 1 infection, the primary efficacy endpoint of sustained virologic response at 12 weeks post-treatment (SVR12) was reported in 90% (95% confidence intervals [CI], 73-98) and 96% (95% CI, 82-100) of patients following 16 and 24 weeks of treatment, respectively. For patients with genotype 3 infection, SVR12 rates were 100% (95% CI, 88-100) and 93% (95% CI, 78-99) after 16 and 24 weeks of therapy, respectively. Adverse events, most of which were mild or moderate in severity, occurred in 69% and 57% of patients receiving 16 and 24 weeks of treatment, respectively. The most common treatment-emergent adverse events were asthenia, headache and cough. Only one patient in the 24-week group discontinued treatment with sofosbuvir during this study. Overall, sofosbuvir plus ribavirin therapy achieved SVR12 rates ≥90% and was well tolerated among treatment-naïve patients with chronic genotype 1 or 3 HCV infection in India.


Assuntos
Antivirais/administração & dosagem , Genótipo , Hepacivirus/classificação , Hepatite C Crônica/tratamento farmacológico , Hepatite C Crônica/virologia , Ribavirina/administração & dosagem , Sofosbuvir/administração & dosagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Antivirais/efeitos adversos , Quimioterapia Combinada/efeitos adversos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/patologia , Hepacivirus/genética , Hepacivirus/isolamento & purificação , Humanos , Índia , Pessoa de Meia-Idade , Ribavirina/efeitos adversos , Sofosbuvir/efeitos adversos , Resposta Viral Sustentada , Resultado do Tratamento , Adulto Jovem
15.
Clin Genet ; 92(3): 323-326, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28276056

RESUMO

Steel syndrome is a rare disorder of the skeleton characterized by facial dysmorphism, short stature, carpal coalition, dislocated radial heads, bilateral hip dislocation and vertical talus. Homozygous variants in COL27A1 were reported in an extending family from Puerto Rico. Here, we report a 5-year-old girl from a non-consanguineous family with facial dysmorphism, short stature, carpal coalition, dislocation of radial heads, bilateral hip dislocation, scoliosis and vertical talus. Exome sequencing identified 2 novel compound heterozygous variants c.521_528del (p.(Cys174Serfs*34)) and c.2119C>T (p.(Arg707*)) in COL27A1 in this child and the parents were heterozygous carriers. We hence report the second molecularly proven case of Steel syndrome and the first case to be reported among non-Puerto Rican population. Our report further validates the role of COL27A1 mutations in causation of Steel syndrome.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Alelos , Colágenos Fibrilares/genética , Mutação , Criança , Pré-Escolar , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Linhagem , Fenótipo , Síndrome , Sequenciamento do Exoma
16.
J Postgrad Med ; 63(1): 47-49, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27853042

RESUMO

Acute limb ischemia and peripheral vascular disease (PVD) are unusual presentations of polyarteritis nodosa (PAN). Here, we present a case with PVD of both lower limbs leading to foot claudication. Digital subtraction angiography showed narrowing, irregularity, and occlusion of both lower limb arteries with no involvement of the abdomen visceral arteries. Based on significant weight loss, diastolic blood pressure >90 mmHg, myalgia, testicular pain, and angiographic abnormalities in medium-sized arteries, he was diagnosed as having PAN. He was treated with corticosteroid and bolus intravenous cyclophosphamide following which he had prompt and near-complete recovery of the symptoms without any tissue loss.


Assuntos
Aneurisma/diagnóstico por imagem , Angiografia Digital/métodos , Claudicação Intermitente/etiologia , Isquemia/etiologia , Doenças Vasculares Periféricas/diagnóstico por imagem , Poliarterite Nodosa/diagnóstico por imagem , Dor Abdominal/etiologia , Corticosteroides/uso terapêutico , Ciclofosfamida/uso terapêutico , Humanos , Metilprednisolona , Poliarterite Nodosa/complicações , Poliarterite Nodosa/tratamento farmacológico , Resultado do Tratamento , Adulto Jovem
17.
Clin Exp Immunol ; 185(3): 301-8, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27238895

RESUMO

Gut microflora and dysbiosis as an environmental factor has been linked to the pathogenesis of enthesitis-related arthritis (JIA-ERA); thus, we performed a proof-of-concept study of probiotics to modulate the gut-flora and study the effects on immune and clinical parameters of children having JIA-ERA. Forty-six children with active JIA-ERA were randomized to placebo or probiotic therapy along with non-steroidal anti-inflammatory drugs (NSAIDs) for 12 weeks. Patients were assessed using a six-point composite disease activity index (mJSpADA) based on morning stiffness, joint count, enthesitis count, sacroiliitis/inflammatory back pain, uveitis and erythrocyte sedimentation rate/C-reactive protein (ESR/CRP). Frequencies of T helper type 1 (Th1), Th2, Th17 and regulatory T cells in blood were measured using flow cytometry. Serum cytokines interferon (IFN)-γ, interleukin (IL)-4, IL-17, IL-10, tumour necrosis factor (TNF)-α and IL-6 were measured by cytokine bead array using flow cytometer. The average age of 46 children (44 boys) was 15 ± 2.5 years and duration of disease was 3.5 ± 3 years. There was no significant difference in improvement in mJSpADA between the two groups (P = 0·16). Serum IL-6 levels showed a decrease (P < 0·05) in the probiotic-group. Th2 cell frequency (P < 0·05) and serum IL-10 levels (P < 0·01) showed an increase in the placebo group, but again the probiotic use did not show a significant change in immune parameters when compared to the placebo. Adverse effects among the probiotic and placebo groups were diarrhea (36 versus 45%), abdominal pain (9 versus 20%), minor infections (4·5 versus 20%) and flatulence (23 versus 15%), respectively. Thus, we can conclude that probiotic therapy in JIA-ERA children is well tolerated, but failed to show any significant immune or clinical effects over NSAID therapy.


Assuntos
Artrite Juvenil/imunologia , Artrite Juvenil/terapia , Citocinas/sangue , Probióticos/uso terapêutico , Adolescente , Anti-Inflamatórios não Esteroides/uso terapêutico , Artrite Juvenil/microbiologia , Proteína C-Reativa/análise , Diarreia/etiologia , Flatulência/etiologia , Humanos , Interleucina-17/sangue , Interleucina-6/sangue , Masculino , Avaliação de Resultados em Cuidados de Saúde , Probióticos/efeitos adversos , Linfócitos T Reguladores/imunologia , Células Th17/química , Células Th2/imunologia
18.
Clin Genet ; 90(6): 536-539, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-26880018

RESUMO

Intraflagellar transport (IFT) is vital for the functioning of primary cilia. Defects in several components of IFT complexes cause a spectrum of ciliopathies with variable involvement of skeleton, brain, eyes, ectoderm and kidneys. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, postaxial polydactyly of hands, pigmentary retinopathy, small teeth and skeletal dysplasia. The clinical phenotype of the child shows significant overlap with cranioectodermal dysplasia type I (Sensenbrenner syndrome). Whole-exome sequencing revealed a homozygous nonsense variant p.R142* in IFT52 encoding an IFT-B core complex protein as the probable cause of her condition. This is the first report of a human disease associated with IFT52.


Assuntos
Osso e Ossos/anormalidades , Proteínas de Transporte/genética , Ciliopatias/genética , Craniossinostoses/genética , Displasia Ectodérmica/genética , Proteínas Associadas aos Microtúbulos/genética , Mutação/genética , Osso e Ossos/fisiopatologia , Pré-Escolar , Cílios/patologia , Ciliopatias/fisiopatologia , Craniossinostoses/fisiopatologia , Displasia Ectodérmica/fisiopatologia , Exoma/genética , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Homozigoto , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Fenótipo
19.
Int J Behav Med ; 23(1): 63-70, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26025629

RESUMO

BACKGROUND: One of the biggest challenges in the spirituality, religiosity, and health field is to understand how patients and physicians from different cultures deal with spiritual and religious issues in clinical practice. PURPOSE: The present study aims to compare physicians' perspectives on the influence of spirituality and religion (S/R) on health between Brazil, India, and Indonesia. METHOD: This is a cross-sectional, cross-cultural, multi-center study carried out from 2010 to 2012, examining physicians' attitudes from two continents. Participants completed a self-rated questionnaire that collected information on sociodemographic characteristics, S/R involvement, and perspectives concerning religion, spirituality, and health. Differences between physicians' responses in each country were examined using chi-squared, ANOVA, and MANCOVA. RESULTS: A total of 611 physicians (194 from Brazil, 295 from India, and 122 from Indonesia) completed the survey. Indonesian physicians were more religious and more likely to address S/R when caring for patients. Brazilian physicians were more likely to believe that S/R influenced patients' health. Brazilian and Indonesians were as likely as to believe that it is appropriate to talk and discuss S/R with patients, and more likely than Indians. No differences were found concerning attitudes toward spiritual issues. CONCLUSION: Physicians from these different three countries had very different attitudes on spirituality, religiosity, and health. Ethnicity and culture can have an important influence on how spirituality is approached in medical practice. S/R curricula that train physicians how to address spirituality in clinical practice must take these differences into account.


Assuntos
Médicos , Religião e Medicina , Espiritualidade , Adulto , Atitude do Pessoal de Saúde/etnologia , Brasil , Comparação Transcultural , Estudos Transversais , Feminino , Humanos , Índia , Indonésia , Masculino , Médicos/psicologia , Médicos/estatística & dados numéricos , Inquéritos e Questionários
20.
Genet Couns ; 27(4): 449-460, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-30226963

RESUMO

We set out to evaluate multiplex ligation dependent probe amplification (MLPA) as a tool for diagnosis and carrier detection in families with a dystrophinopathy. Fifty three Indian families with provisional diagnosis of Duchene muscular dystrophy or Becker muscular dystrophy were evaluated by MLPA and multiplex polymerase chain reaction (PCR). Sanger sequencing was used to analyze the entire gene in one patient. Mothers were tested for carrier status whenever possible. Molecular analysis of DMD gene by combining MLPA and multiplex PCR yielded a mutation detection rate of 62% (33/53). Deletions were detected in 27/53 (51%) cases, duplications in 5/53 (9%) cases, a small deletion one case and Sanger sequencing detected a nonsense mutation in one case. Mutation was not detected in 36% (19/53) cases. Fifty six percent of mothers (9/16) were found to be carriers. MLPA helped to refine the results of multiplex PCR testing in 22 patients (5 duplications, 16 deletions and one small deletion). We also describe a situation where a deletion of single exon on MLPA (but not detected by multiplex PCR) was actually due to a deletion of two nucleotides in the probe ligation site. MLPA appears to score over multiplex PCR in diagnosis and carrier detection, specifically by detecting deletions and duplications that are not detected by traditional multiplex PCR.


Assuntos
Triagem de Portadores Genéticos/métodos , Reação em Cadeia da Polimerase Multiplex/métodos , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Adolescente , Adulto , Criança , Pré-Escolar , Análise Mutacional de DNA , Distrofina/genética , Éxons/genética , Feminino , Humanos , Índia , Masculino , Exame Neurológico , Adulto Jovem
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