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1.
Am J Gastroenterol ; 2024 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-38934507

RESUMO

OBJECTIVE: Life-long adherence to gluten-free diet (GFD) and its assessment is essential for celiac disease (CeD) patients. We have developed and validated a tool for assessing adherence to GFD which can be used by both physicians and dietitians. DESIGN: Phase-I: Development, content validation and assessment of reliability of tool. Phase-II: Validation of tool against standard dietary evaluation (SDE) (gold standard), IgA anti-tissue transglutaminase antibody (IgA-anti-tTG Ab) and gluten immunogenic peptides in urine (Urine-GIP). Overall, 380 biopsy-confirmed CeD patients [Derivation-cohort: n=100(Phase:I), n=210(Phase:II) and Independent validation cohort, n=70)were recruited. RESULTS: Of initial 90-point questionnaire, 84-items (CD-CAT.v1) were retained after content validation and pilot testing. In Phase:I, upon administering CD-CAT.v1on 100 patients, a comprehensive 35-items tool (CD-CAT.v2;α=0.86) was obtained after removing items with low test-retest reliability and item-rest correlation values. In Phase:II, upon administering CD-CAT.v2 on 210patients,22 items were removed having low correlation values (R<0.4) with SDE. Finally, a 13-item tool (CD-CAT.v3;α=0.84) was obtained with high criterion validity with SDE (r=0.806, p<0.001), moderate convergent validity with CDAT (r=0.602, p=0.007) and moderate to weak correlation with urine GIP (r=0.46, p=0.001) and IgA anti-tTG Ab (r=0.39, p=0.008), respectively. The final 13-item tool also strongly correlated with SDE (r=0.78, p<0.001) in an independent validation cohort of 70 CeD patients. Principal component analysis identified three relevant sub-scales with a cumulative-variance of 62%. The sensitivity and specificity of CD-CAT.v3 were 80% and 91%, respectively, with an area under curve of 0.905 with SDE. The obtained cut-off score of <19 from ROC-curve was further categorized as: 13=excellent,14-18=very good, 19-28=average and >28=poor adherence to GFD. CONCLUSION: CD-CAT is a new and rapid tool for monitoring dietary adherence to GFD with high sensitivity and specificity which can be administered by both physicians and dietitians.

2.
J Endocrinol Invest ; 45(9): 1777-1786, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35585296

RESUMO

PURPOSE: Patients with hypoparathyroidism are at risk of vertebral fractures (VFs) despite high bone mineral density (BMD). We investigated this paradox by assessing trabecular bone score (TBS) and hip structural analysis (HSA) in non-surgical chronic hypoparathyroidism (cHypoPT) with and without VFs. METHODS: 152 cHypoPT patients (age 40.2 ± 13.4 years, M: F = 81:71) with a median follow-up of 8 (2-13) years were assessed for BMD, VFs, TBS, and HSA and compared with 152 healthy controls. VFs at T7-L4 were assessed by Genant's method. Average serum total calcium and phosphorus during follow-up were assessed. RESULTS: The lumbar spine and hip BMD were higher by 25.4 and 13.4% in cHypoPT than controls (P < 0.001). Paradoxically, VFs (30.9 vs.7.9%), including multiple (12.5 vs. 2.6%) were higher in cHypoPT (P < 0.001). Though overall average TBS (1.411 ± 0.091) was normal in cHypoPT, 25.4% of the females had subnormal TBS, more in post than pre-menopausal women (52.3 vs. 14%, P = 0.002) and as compared to males (6.1%, P = 0.001). TBS correlated with menopausal status and follow-up serum calcium-phosphorus product. For every gm/cm2 rise in BMD, TBS increase was only 0.227 in cHypoPT compared to 0.513 in controls. Frequency of VFs increased with declining TBS (P = 0.004). HSA was comparable between cHypoPT with and without VFs. 23.4% of cHypoPT with VFs had subnormal TBS. CONCLUSION: 31% of cHypoPT patients had VFs. TBS indicated degraded bone microarchitecture in 50% of the post-menopausal cHypoPT women. However, TBS has limitations to detect abnormal bone microarchitecture in cHypoPT as only one-fourth of patients with VFs showed low TBS.


Assuntos
Hipoparatireoidismo , Fraturas por Osteoporose , Fraturas da Coluna Vertebral , Absorciometria de Fóton/métodos , Adulto , Densidade Óssea , Cálcio , Osso Esponjoso/diagnóstico por imagem , Feminino , Humanos , Vértebras Lombares/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Fraturas por Osteoporose/diagnóstico , Fraturas por Osteoporose/etiologia , Fósforo , Fraturas da Coluna Vertebral/diagnóstico por imagem , Fraturas da Coluna Vertebral/etiologia
3.
Clin Exp Dermatol ; 47(1): 125-128, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34236705

RESUMO

Tattoos with blue/black ink show good lightening of pigment after treatment with 1064 nm Q-switched (QS) neodymium-doped yttrium-aluminium-garnet (Nd:YAG) laser. In this randomized trial, we compared the efficacy of a novel three pass, one session procedure (R15 method) with a conventional method for treating blue/black tattoos in darker skin types. Tattoos were treated with 1064 nm QS Nd:YAG Laser with a spot size of 4 mm, fluence of 5 J/cm2 and frequency of 5 Hz. The tattoo pigment lightening was comparable with both methods. Thread-like tattoos had significantly better pigment lightening with fewer side effects than the broad band-like tattoos. We would like to recommend the R15 method of the QS Nd:YAG laser for thread-like tattoos, which can save patients' time, cut short the frequency of their hospital visits and, more importantly, decrease the cost involved in it.


Assuntos
Lasers de Estado Sólido/uso terapêutico , Pigmentação da Pele , Pele/efeitos da radiação , Tatuagem , Vesícula/etiologia , Cicatriz/etiologia , Humanos , Lasers de Estado Sólido/efeitos adversos , Lesões por Radiação/etiologia
4.
Pediatr Surg Int ; 38(2): 257-267, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34674019

RESUMO

INTRODUCTION: Wilms tumor is the most common renal malignancy in children and difficult to differentiate from other paediatric abdominal tumors radiologically, necessitating an invasive procedure for diagnosis. Previous studies have shown the potential role of miRNA as biomarkers for diagnosis, histological subtyping and prognosis. In this study, we are exploring the role of miRNA in the histological subtyping of Wilms tumor in the Indian population. MATERIALS AND METHODS: A total of 15 cases of Wilms tumor were evaluated for global miRNA expression analysis by microarray. Total RNA was extracted from fresh frozen tumor and miRNA expression analysis was performed using Agilent platform. Unsupervised clustering was done to analyse the data. RESULTS: Using unpaired student T test, top 10 significantly differentially expressed miRNA were selected which could differentiate among different histological subtypes by unsupervised hierarchical clustering and principal component analysis. The presence of necrosis, heterologous differentiation led to change in miRNA expression profile and led to a distinct cluster formation. CONCLUSIONS: A panel of 5 miRNAs (miR1, 133b, 299-3p, 499a-5p, 491-3p) could differentiate among different histological subtypes of Wilms tumor, thus avoiding an invasive procedure in children, however, further confirmation using real time PCR analysis will be needed.


Assuntos
Neoplasias Renais , MicroRNAs , Tumor de Wilms , Biomarcadores Tumorais/genética , Criança , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Humanos , Neoplasias Renais/genética , MicroRNAs/genética , Prognóstico , Reação em Cadeia da Polimerase em Tempo Real , Tumor de Wilms/genética
5.
Eur J Pediatr ; 180(4): 1043-1050, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33047160

RESUMO

Obese individuals are prone to vitamin D deficiency because of sequestration of vitamin D in their body fat. We planned to evaluate the rise in serum 25(OH)D levels in vitamin D-deficient obese vs normal body mass index(BMI) children, after administration of identical single dose of vitamin D. Twenty-two obese and 22 normal BMI children with serum 25 (OH)D < 20 ng/mL were given single oral dose 150,000 IU vitamin D, and 25 (OH)D levels were measured at 1 week and 1 month post-intervention. Results show that rise in 25(OH)D level from baseline was about 2.2 times lesser in obese compared with children with normal BMI, both at 1 week and at 1 month. The rise in 25(OH)D from baseline to 1 month was inversely correlated to BMI (r = - 0.56, p = < 0.001), waist circumference (r = - 0.48, p = 0.001), total fat mass (r = - 0.58, p < 0.001), and fat mass index (r = - 0.59, p < 0.001).Conclusion: The obese children have a 2.2 times lower rise in serum vitamin D levels as compared with the normal BMI children for the same dose of vitamin D supplementation. What is Known: • The obese individuals are prone to vitamin D deficiency and may be given higher doses of vitamin D supplementation. What is New: • Our study demonstrates that obese children have 2.2 times lesser rise in serum 25(OH)D concentrations as compared with normal BMI children when administered similar oral dose vitamin D.


Assuntos
Deficiência de Vitamina D , Vitamina D , Índice de Massa Corporal , Criança , Suplementos Nutricionais , Humanos , Obesidade/complicações , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/tratamento farmacológico
6.
J Gastroenterol Hepatol ; 35(3): 438-445, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31498492

RESUMO

BACKGROUND AND AIM: Demonstration of villous abnormalities is an essential component of diagnosis of celiac disease (CeD) that requires duodenal biopsies. There is a need for non-invasive biomarker(s) that can predict the presence of villous abnormalities. METHODS: Levels of plasma citrulline, plasma intestinal fatty acid binding protein (I-FABP), and serum regenerating gene 1α (Reg1α) were estimated in treatment naïve patients with CeD and controls. The levels of these biomarkers and their cyclical pattern were validated in a predicted model of enteropathy. Optimum diagnostic cut-off values were derived, and the results were further validated in a prospective validation cohort. RESULTS: While level of plasma citrulline was significantly lower, the levels of plasma I-FABP and serum Reg1α were significantly higher in patients with CeD (n = 131) in comparison with healthy (n = 216) and disease controls (n = 133), and their levels reversed after a gluten-free diet (GFD). In the model of predicted enteropathy (n = 70), a sequential decrease and then increase in the level of plasma citrulline was observed; such a sequential change was not observed with I-FABP and Reg1α. The diagnostic accuracy for prediction of presence of villous abnormality was 89% and 78% if citrulline level was  ≤ 30 µM/L and I-FABP levels were ≥ 1100 pg/mL, respectively. The results were validated in a prospective validation cohort (n = 104) with a sensitivity and specificity of 79.5% and 83.1%, respectively, for predicting villous abnormalities of modified Marsh grade > 2 at calculated cut-off values of citrulline and I-FABP. CONCLUSIONS: Plasma citrulline  ≤ 30 µM/L is the most consistent, highly reproducible non-invasive biomarker that can predict the presence of villous abnormality and has the potential for avoiding duodenal biopsies in 78% patients suspected to have CeD.


Assuntos
Doença Celíaca/diagnóstico , Doença Celíaca/patologia , Citrulina/sangue , Proteínas de Ligação a Ácido Graxo/sangue , Mucosa Intestinal/anormalidades , Litostatina/sangue , Adulto , Biomarcadores/sangue , Estudos de Coortes , Feminino , Humanos , Mucosa Intestinal/patologia , Masculino , Valor Preditivo dos Testes , Adulto Jovem
7.
Clin Exp Dermatol ; 45(2): 172-179, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31361909

RESUMO

BACKGROUND: Noncultured extracted hair follicle outer root sheath cell suspension (NC-EHF-ORS-CS) is an upcoming surgical technique to treat stable vitiligo. Conventionally it employs trypsin to tap the hair follicle (HF) reservoir for autologous melanocytes and their precursors for transplantation. However, a perifollicular dermal sheath composed of type 1 collagen encases the target 'bulge' region of the HF. Adding collagenase type 1 would digest the ORS, facilitating better release of cells. AIM: To compare the repigmentation achieved using trypsin and a combination of collagenase plus trypsin, respectively, with dermabrasion alone, and to compare cell counts, viability and composition of both suspensions. METHODS: This was a randomized, double-blind, comparative, therapeutic trial, conducted as a pilot study on 22 patients with stable vitiligo. Three similar patches were randomized into three parallel treatment arms [(A) trypsin plus collagenase, (B) trypsin alone and (C) dermabrasion with vehicle alone]. Each patient's HF sample was divided and digested by the two methods, and transplanted as suspensions onto dermabraded patches, while a third dermabraded patch received the vehicle only. Suspensions were sent for laboratory analysis. Repigmentation was assessed over a follow-up of 6 months. RESULTS: There was a significant increase in cell yield and comparable viability when collagenase was added. Immunohistochemical and flow cytometry studies showed a nonsignificant increase in HMB45+ melanocytes and their precursor stem cells in group A. This trend was reflected clinically in the extent of repigmentation [group A (33.22%) > B (24.31%) > C (16.59%); P = 0.13]. Adding collagenase induced significantly higher repigmentation than dermabrasion alone (P < 0.05). CONCLUSIONS: Incorporating collagenase type I into the conventional NC-EHF-ORS-CS technique resulted in enhanced retrieval of pigment-forming cells and subsequently improved repigmentation in vitiligo.


Assuntos
Colagenases/farmacologia , Folículo Piloso/citologia , Melanócitos/efeitos dos fármacos , Tripsina/farmacologia , Vitiligo/cirurgia , Adulto , Técnicas de Cultura de Células , Método Duplo-Cego , Feminino , Folículo Piloso/efeitos dos fármacos , Folículo Piloso/transplante , Humanos , Queratinócitos , Masculino , Melanócitos/transplante , Projetos Piloto , Suspensões , Transplante Autólogo
8.
Pharm Stat ; 19(6): 803-813, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32484295

RESUMO

When the same type of event is experienced by a subject more than once it is called recurrent event, which possess two important characteristics, namely "within-subject correlation" and "time-varying covariate." As a result, the traditional statistical methods do not work well on recurrent event data. Over the past few decades, many alternatives methods have been proposed for the analysis of recurrent event data. In this article, the six most prominent methods for recurrent event analysis have been compared on pediatric asthma data. Three variance corrected models (viz "Anderson and Gill [AG] model," "Prentice, William, and Peterson-Counting Process [PWP-CP] model," and "Prentice, William, and Peterson-Gap Time [PWP-GT] model") and three corresponding frailty variants (AG-frailty, PWP-CP-frailty, and PWP-GT-frailty) were compared using three mathematical criterion (AIC, BIC, and log-likelihood) and one graphical criteria (Cox-Snell goodness of fit, visual test). All model comparison indices showed the PWP-GT model as the most appropriate model on asthma data over other models. By using PWP-GT model, seven predictors of asthma exacerbation (viz "abdominal pain at previous visit," "Z5 (%) at previous visit," "diagnosis of asthma at previous visit," "calendar month of exacerbation," "history of maternal asthma," "monthly per capita income," and "emotional stress") were identified. The PWP-GT model was identified as the most appropriate model over other models on pediatrics asthma data.


Assuntos
Asma , Pediatria/estatística & dados numéricos , Projetos de Pesquisa/estatística & dados numéricos , Adolescente , Fatores Etários , Asma/diagnóstico , Asma/epidemiologia , Asma/fisiopatologia , Asma/terapia , Criança , Pré-Escolar , Interpretação Estatística de Dados , Progressão da Doença , Feminino , Humanos , Masculino , Modelos Estatísticos , Determinantes Sociais da Saúde/estatística & dados numéricos , Fatores de Tempo
9.
Br J Dermatol ; 180(3): 580-585, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30085349

RESUMO

BACKGROUND: The Vitiligo Impact Scale (VIS)-22 is a vitiligo-specific quality-of-life instrument. Its criterion, convergent and known-groups validity, test-retest reliability and responsiveness have been studied previously in an Indian population. The clinical meaning of VIS-22 scores has not yet been analysed. OBJECTIVES: To assign clinical meaning to VIS-22 scores using anchor-based methods. METHODS: This was a cross-sectional study conducted in a large teaching hospital in North India. Patients with vitiligo > 15 years of age (n = 391) completed the VIS-22 and Dermatology Life Quality Index (DLQI) questionnaires, and answered a Global Question (GQ) on the effect of vitiligo on their lives on a five-point Likert scale. Multiple band sets of VIS-22 scores were devised using GQ as the anchor. A weighted kappa-coefficient was calculated to estimate the level of agreement between different band sets of VIS-22 and GQ. VIS-22 and DLQI were compared based on their degree of correlation and agreement with GQ. RESULTS: The mean ± SD of VIS-22 scores was 24·8 ± 14·0 (range 0-61). VIS-22 scores showed good correlation with GQ (r = 0·76). Of the various VIS-22 band sets tested, the following was chosen: 0-5, 6-15, 16-25, 26-40 and 41-66 (weighted κ = 0·57), corresponding to the five categories of GQ. The degree of correlation (VIS-22, r = 0·77; DLQI, r = 0·69) and agreement (VIS-22, 51·6%; DLQI, 36·1%; P < 0·001) of VIS-22 with GQ was higher than that with DLQI. CONCLUSIONS: VIS-22 scores can be used to stratify the impairment of vitiligo-related quality of life.


Assuntos
Qualidade de Vida , Inquéritos e Questionários , Vitiligo/psicologia , Adolescente , Adulto , Idoso , Tomada de Decisão Clínica/métodos , Estudos Transversais , Estudos de Viabilidade , Feminino , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Psicometria , Reprodutibilidade dos Testes , Vitiligo/complicações , Adulto Jovem
10.
Indian J Med Res ; 150(2): 175-185, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31670273

RESUMO

Background & objectives: The models for implementation of antibiotic stewardship programme (ASP) in the acute care settings of developing countries are lacking. In most of the hospitals, patient turnover is high and a proper system for recording antibiotic-related information and tracking hospital-acquired infections is not in place. This pilot study was conducted in a tertiary care teaching hospital in north India to assess the feasibility of implementation of an ASP in a Medicine unit and to evaluate the effect of implementation as per the criteria applicable in this set up. Methods: A pre-post-quasi-experimental non-randomized study was conducted in two phases. In the first phase, current practices in the Medicine wards were observed. In the second phase, the ASP was implemented in a single Medicine unit, along with prospective audit and feedback, tracking of the process, as well as outcome measures. Patient risk stratification, blood culture on day one, day 3 bundle, dose optimization, de-escalation and intravenous to oral conversion of antibiotics were the key elements focused upon. Results: There was a significant improvement in the appropriateness of antibiotic prescription (66 vs. 86%, P<0.001) and reduction in the mean number of antibiotics used per person (4.41 vs. 3.86, P<0.05) along with decrease in the duration of hospital stay (17 vs. 14 days, P<0.05). There was a significant improvement in sending of blood cultures on day one during the stewardship phase (P<0.001). Interpretation & conclusions: The ASP approach used in our pilot study may be feasible and beneficial. However, it needs further confirmation in other settings and on a large scale.


Assuntos
Gestão de Antimicrobianos , Infecções Bacterianas/tratamento farmacológico , Farmacorresistência Bacteriana/efeitos dos fármacos , Administração Intravenosa , Infecções Bacterianas/epidemiologia , Infecções Bacterianas/microbiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Feminino , Hospitais de Ensino , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Centros de Atenção Terciária
11.
Natl Med J India ; 31(5): 268-273, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-31267990

RESUMO

Background: Globally, around 1 billion persons are disabled as per the WHO report on disability in 2011. The bio-psycho-social model of disability was developed by the WHO as the International Classification of Functioning, Disability and Health. We studied the prevalence of disability and its association with sociodemographic factors and quality of life among adults in a rural area. Methods: We did a community-based, cross-sectional study among 418 randomly selected adult participants aged 18 years and above in a rural area of Ballabgarh, Haryana. Participants were interviewed by administering WHO Disability Assessment Schedule 2.0 (WHODAS 2.0) for assessing disability and WHO Quality of Life-BREF (WHOQOL-BREF) scale for assessing quality of life. Multivariate analyses were done for the predictors of disability. Correlation was applied to find the association between disability and quality of life. Results: The prevalence of disability was 7.7% (95% confidence interval [CI]: 5.3%-10.6%) based on the cut-off > 40 summary score. More women (10.9%) than men (4.1 %) were disabled (p = 0.009). Being ≥60 years of age was independently associated with disability (adjusted odds ratio 12.3; 95% CI 4.45-33.97). The mean (SD) of the WHOQOL-BREF health-related quality of life (HRQOL) summary score was 67.6 (11.6) and the median was 66.43. HRQOL summary scores decreased as age increased. There was a negative correlation between summary scores of WHODAS 2.0 and WHOQOL-BREF (r -0.57, p<0.001). Conclusion: Prevalence of disability was higher than the estimate given by Census 2011. The elderly and women experience more disability. As age increases, quality of life decreases. Increase in the level of disability decreases the quality of life.


Assuntos
Avaliação da Deficiência , Pessoas com Deficiência/estatística & dados numéricos , Qualidade de Vida , População Rural/estatística & dados numéricos , Fatores Socioeconômicos , Adulto , Fatores Etários , Estudos Transversais , Feminino , Humanos , Índia/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores Sexuais , Inquéritos e Questionários/estatística & dados numéricos , Adulto Jovem
12.
Indian J Crit Care Med ; 22(6): 408-414, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29962740

RESUMO

INTRODUCTION: Lack of restorative sleep and altered sleep-wake cycle is a frequent problem among patients admitted to the Intensive Care Unit (ICU). This study was conducted to estimate the prevalence of poor sleep and patient's perspective of factors governing poor sleep in the ICU. MATERIALS AND METHODS: A cross-sectional study was performed in medical ICU of a tertiary care hospital. A total of 32 patients admitted to the ICU for at least 24 h were recruited. A 72-h actigraphy was done followed by a subjective assessment of sleep quality by the Richards-Campbell Sleep Questionnaire (RCSQ). Patient's perspective of sleep quality and quantity and possible risk factors for poor sleep were recorded. RESULTS: Poor sleep (defined as RCSQ <50, sensitivity 88% and specificity 87%) was found in 15 out of the 32 patients (47%). The prevalence of poor sleep was higher among patients on mechanical ventilation (n = 15) (66.7% vs. 33.3%, P < 0.05). Patients with poor sleep had higher age (median age [in years] 42.8 vs. 31.4, P = 0.008), acute physiology, and chronic health evaluation II score (mean 14 ± 5.15 vs. 9.3 ± 5.64, P = 0.02), SAPS 3 score (62.7 ± 8.9 vs. 45.6 ± 10.5, P ≤ 0.0001), and worse actigraphy parameters. Only 55.63% of total sleep time was in the night (2200-0600). All patients had discomfort from indwelling catheters and suctioning of endotracheal tubes. All patients suggested that there be a minimum interruption in the sleep for interventions or medications. CONCLUSION: There is a high prevalence of poor sleep among patients admitted to the ICU. There is a dire need to minimize untimely interventions and design nonpharmacological techniques to allow patients to sleep comfortably.

13.
Br J Dermatol ; 176(6): 1624-1632, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27925151

RESUMO

BACKGROUND: Accurately diagnosing the subtype of epidermolysis bullosa (EB) is critical for management and genetic counselling. Modern laboratory techniques are largely inaccessible in developing countries, where the diagnosis remains clinical and often inaccurate. OBJECTIVES: To develop a simple clinical diagnostic tool to aid in the diagnosis and subtyping of EB. METHODS: We developed a matrix indicating presence or absence of a set of distinctive clinical features (as rows) for the nine most prevalent EB subtypes (as columns). To test an individual patient, presence or absence of these features was compared with the findings expected in each of the nine subtypes to see which corresponded best. If two or more diagnoses scored equally, the diagnosis with the greatest number of specific features was selected. The matrix was tested using findings from 74 genetically characterized patients with EB aged > 6 months by an investigator blinded to molecular diagnosis. For concordance, matrix diagnoses were compared with molecular diagnoses. RESULTS: Overall, concordance between the matrix and molecular diagnoses for the four major types of EB was 91·9%, with a kappa coefficient of 0·88 [95% confidence interval (CI) 0·81-0·95; P < 0·001]. The matrix achieved a 75·7% agreement in classifying EB into its nine subtypes, with a kappa coefficient of 0·73 (95% CI 0·69-0·77; P < 0·001). CONCLUSIONS: The matrix appears to be simple, valid and useful in predicting the type and subtype of EB. An electronic version will facilitate further testing.


Assuntos
Epidermólise Bolhosa/diagnóstico , Criança , Pré-Escolar , Epidermólise Bolhosa/genética , Estudos de Viabilidade , Humanos , Projetos Piloto , Sistemas Automatizados de Assistência Junto ao Leito , Estudos Prospectivos
14.
Osteoporos Int ; 27(4): 1611-1617, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26630977

RESUMO

UNLABELLED: Evaluation of ultraviolet B index (UVBI) and its impact on vitamin D synthesis is important. We observed the maximum UVBI between 11 am and 1 pm. There was no increase in serum 25(OH)D levels following sun exposure during winter as the UVBI was significantly low, emphasizing the need for vitamin D supplementation during these months. INTRODUCTION: The amount of vitamin D3 synthesizing UVB irradiation (290-320 nm) reaching the earth's surface at different altitudes and seasons in different parts of India and it's impact on vitamin D synthesis has not been well studied. METHODS: The hourly UVB index (UVBI) from 10 am to 3 pm everyday for 12 months was measured by a solar meter in 4 different zones (North, Northeast, West and South) of the country. To study the impact of sun light exposure on vitamin D synthesis during winter, healthy school children aged 10-15 years were exposed to sunlight for a period of 30 min per day, between 11 am to 12 noon with 10 % body surface area, for 4 weeks. The main outcome measures were serum 25(OH)D, PTH, calcium, phosphate, and alkaline phosphatase levels before and after sun exposure. RESULTS: The mean UVBI was highest between 11 am and 1 pm throughout the year in all locations. The highest UVBI was recorded from the North zone (4.5 ± 2.7 µW/Cm(2)), while the least was recorded in the Northeast zone (2.1 ± 1.2 µW/Cm(2)). UVBI readings in the Northeast zone were consistently low throughout the year, while all the other three zones showed significant seasonal fluctuations. Surprisingly, we observed a significant decrease in serum 25(OH)D levels from baseline (6.3 ± 4.6 to 5.1 ± 2.7 ng/mL; p < 0.001) despite sun exposure. CONCLUSION: The mean UVBI was highest between 11 am and 1 pm throughout the year in all locations. No increase in the serum 25(OH)D levels was observed following sun exposure in winter, emphasizing the need for vitamin D supplementation during these months.


Assuntos
Colecalciferol/biossíntese , Estações do Ano , Luz Solar , Raios Ultravioleta , Adolescente , Criança , Feminino , Mapeamento Geográfico , Humanos , Índia/epidemiologia , Masculino , Exposição à Radiação , Instituições Acadêmicas , Vitamina D/análogos & derivados , Vitamina D/sangue , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/epidemiologia
16.
Indian J Med Res ; 144(6): 924-928, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28474630

RESUMO

BACKGROUND & OBJECTIVES: The N-acetyltransferase 2 (NAT2) gene encodes an enzyme which both activates and deactivates arylamine and other drugs and carcinogens. This study was aimed to investigate the role of NAT2 gene polymorphism in anti-tuberculosis drug-induced hepatotoxicity (DIH). METHODS: In this prospective study, polymerase chain reaction-restriction fragment length polymorphism results for NAT2 gene were compared between 185 tuberculosis patients who did not develop DIH and 105 tuberculosis patients who developed DIH while on anti-tuberculosis drugs. RESULTS: Frequency of slow-acetylator genotype was commonly encountered and was not significantly different between DIH (82.8%) and non-DIH (77.2%) patients. However, the genotypic distribution of variant NAT2FNx015/FNx017 amongst slow-acetylator genotypes was significantly higher in DIH (56%) group as compared to non-DIH (39%) group (odds ratio 2.02; P=0.006). INTERPRETATION & CONCLUSIONS: The present study demonstrated no association between NAT2 genotype and DIH in the north Indian patients with tuberculosis.


Assuntos
Antituberculosos/efeitos adversos , Arilamina N-Acetiltransferase/genética , Doença Hepática Induzida por Substâncias e Drogas/genética , Predisposição Genética para Doença , Tuberculose/tratamento farmacológico , Adolescente , Adulto , Idoso , Doença Hepática Induzida por Substâncias e Drogas/patologia , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Tuberculose/complicações
17.
Sleep Breath ; 20(4): 1225-1230, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27193743

RESUMO

PURPOSE: The Epworth Sleepiness Scale (ESS) is one of the most widely used questionnaire for the assessment of excessive daytime sleepiness (EDS) in sleep-disordered breathing (SDB). This study was conducted to assess the validity of ESS in the Hindi language. METHODS: The Hindi version was developed by translation and back translation by independent translators. The English and Hindi versions were administered to 115 bilingual subjects who presented with symptoms of SDB, of whom 98 underwent a polysomnography at a tertiary care hospital in North India. RESULTS: The questionnaire had a high level of internal consistency as measured by Cronbach's alpha (α = 0.84). There was no significant difference between the mean ESS scores of Hindi and English versions (11.65 ± 5.47 vs 11.70 ± 5.49, respectively; p = 0.80). The Hindi version of ESS showed a strong correlation with the English version (Spearman's correlation ρ = 0.98 and weighted kappa = 0.94). Each of the 8 individual questions of Hindi ESS demonstrated a good agreement with the corresponding English version. The Hindi ESS score was significantly higher in subjects with OSA compared to those without OSA (12.67 ± 5.29 vs 7.76 ± 5.44, respectively; p = 0.002). However, there was no difference in ESS score between mild and moderate OSA or between moderate and severe OSA. CONCLUSIONS: The Hindi version of the ESS showed a good internal consistency and a strong correlation with the English version and can be used in the Hindi-speaking population.


Assuntos
Comparação Transcultural , Distúrbios do Sono por Sonolência Excessiva/diagnóstico , Psicometria/estatística & dados numéricos , Apneia Obstrutiva do Sono/diagnóstico , Inquéritos e Questionários , Adulto , Feminino , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Polissonografia , Reprodutibilidade dos Testes , Tradução
18.
Sleep Breath ; 20(1): 87-93, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25957617

RESUMO

PURPOSE: Sleep disturbances such as insomnia, nocturnal awakenings, restless legs syndrome, habitual snoring, and excessive daytime sleepiness are frequent during pregnancy, and these have been linked to adverse maternal and fetal outcomes. METHODS: A prospective observational study was performed in high-risk Indian pregnant women. We used modified Berlin questionnaire (MBQ), Pittsburgh sleep quality index (PSQI), International Restless Legs Syndrome Study Group 2011 criteria, and Epworth sleepiness scale to diagnose various sleep disorders, such as symptomatic OSA, poor sleep quality and insomnia, RLS, and excessive daytime sleepiness, respectively, in successive trimesters of pregnancy. Outcome variables of interest were development of gestational hypertension (GH), gestational diabetes mellitus (GDM), and cesarean delivery (CS); the Apgar scores; and low birth weight (LBW). The relationship between sleep disorders and outcomes was explored using logistic regression analysis. RESULTS: Outcome data were obtained in 209 deliveries. As compared to nonsnorers, women who reported snoring once, twice, and thrice or more had odds ratios for developing GH-4.0 (95 % CI 1.3-11.9), 1.5 (95 % CI 0.5-4.5), and 2.9 (95 % CI 1.0-8.2) and for undergoing CS-5.3 (95 % CI 1.7-16.3), 4.9 (95 % CI 1.8-13.1), and 5.1 (95 % CI 1.9-14.9), respectively. Pregnant women who were persistently positive on MBQ had increased odds for GH and CS. CONCLUSIONS: Snoring and high-risk MBQ in pregnant women are strong risk factors for GH and CS. In view of the significant morbidity and health care costs, simple screening of pregnant women with questionnaires such as MBQ may have clinical utility.


Assuntos
Complicações na Gravidez/diagnóstico , Resultado da Gravidez , Transtornos do Sono-Vigília/diagnóstico , Adulto , Índice de Apgar , Cesárea , Diabetes Gestacional/diagnóstico , Feminino , Humanos , Hipertensão Induzida pela Gravidez/diagnóstico , Índia , Recém-Nascido de Baixo Peso , Recém-Nascido , Razão de Chances , Gravidez , Estudos Prospectivos , Apneia Obstrutiva do Sono/diagnóstico , Estatística como Assunto , Adulto Jovem
20.
Br J Dermatol ; 172(1): 208-14, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24864027

RESUMO

BACKGROUND: Patients with congenital ichthyosis, especially those with darker skin types, are at increased risk of developing vitamin D deficiency and rickets. The relationships between 25-hydroxyvitamin D [25(OH)D], parathyroid hormone (PTH) and bone health have not been studied previously, in ichthyosis. OBJECTIVES: To determine the threshold levels of 25(OH)D and PTH for impaired bone health in children with congenital ichthyosis. METHODS: In this cross-sectional study, 119 children with ichthyosis and 168 controls were recruited. Serum 25(OH)D, PTH, calcium, phosphate and alkaline phosphatase (ALP) were measured. Radiological screening for rickets was carried out only in children with ichthyosis. RESULTS: Forty-seven children with ichthyosis had either clinical or radiological evidence of rickets. The correlation between serum 25(OH)D and PTH showed that a serum level of 25(OH)D 8 ng mL(-1) was associated with a significant increase in PTH. The correlation between PTH and ALP showed that a serum PTH level of 75 pg mL(-1) was associated with a significant increase in ALP levels. Of the different clinical phenotypes of ichthyosis, both autosomal recessive congenital ichthyosis (ARCI) and epidermolytic ichthyosis (EI) were found to have significantly increased PTH, ALP and radiological rickets scores compared with common ichthyosis. CONCLUSIONS: Serum levels of 25(OH)D ≤ 8 ng mL(-1) and PTH ≥ 75 pg mL(-1) significantly increases the risk for development of rickets [odds ratio (OR) 2·8; 95% confidence interval (CI) 1·05-7·40; P = 0·04] in ichthyosis. Among the different types, patients with ARCI (OR 4·83; 95% CI 1·74-13·45; P < 0·01) and EI (OR 5·71; 95% CI 1·74-18·79; P < 0·01) are at an increased risk of developing rickets.


Assuntos
Ictiose Lamelar/complicações , Hormônio Paratireóideo/metabolismo , Raquitismo/etiologia , Deficiência de Vitamina D/complicações , Vitamina D/análogos & derivados , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Hiperparatireoidismo/sangue , Hiperparatireoidismo/complicações , Ictiose Lamelar/sangue , Lactente , Masculino , Raquitismo/sangue , Vitamina D/metabolismo , Deficiência de Vitamina D/sangue
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