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1.
Clin Genet ; 105(6): 639-654, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38374498

RESUMEN

The application of genomic technologies has led to unraveling of the complex genetic landscape of disorders of epilepsy, gaining insights into their underlying disease mechanisms, aiding precision medicine, and providing informed genetic counseling. We herein present the phenotypic and genotypic insights from 142 Indian families with epilepsy with or without comorbidities. Based on the electroclinical findings, epilepsy syndrome diagnosis could be made in 44% (63/142) of the families adopting the latest proposal for the classification by the ILAE task force (2022). Of these, 95% (60/63) of the families exhibited syndromes with developmental epileptic encephalopathy or progressive neurological deterioration. A definitive molecular diagnosis was achieved in 74 of 142 (52%) families. Infantile-onset epilepsy was noted in 81% of these families (61/74). Fifty-five monogenic, four chromosomal, and one imprinting disorder were identified in 74 families. The genetic variants included 65 (96%) single-nucleotide variants/small insertion-deletions, 1 (2%) copy-number variant, and 1 (2%) triplet-repeat expansion in 53 epilepsy-associated genes causing monogenic disorders. Of these, 35 (52%) variants were novel. Therapeutic implications were noted in 51% of families (38/74) with definitive diagnosis. Forty-one out of 66 families with monogenic disorders exhibited autosomal recessive and inherited autosomal dominant disorders with high risk of recurrence.


Asunto(s)
Epilepsia , Asesoramiento Genético , Fenotipo , Humanos , Epilepsia/genética , Epilepsia/epidemiología , Epilepsia/diagnóstico , India/epidemiología , Masculino , Femenino , Niño , Preescolar , Lactante , Predisposición Genética a la Enfermedad , Linaje , Edad de Inicio , Estudios de Asociación Genética , Adolescente , Genotipo , Variaciones en el Número de Copia de ADN/genética
2.
BMC Med Educ ; 24(1): 637, 2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38844924

RESUMEN

BACKGROUND: Online education has emerged as a crucial tool for imparting knowledge and skills to students in the twenty-first century, especially in developing nations like India, which previously relied heavily on traditional teaching methods. METHODS: This study delved into the perceptions and challenges experienced by students and teachers in the context of online education during the COVID-19 pandemic. Data were collected from a sample of 491 dental students and 132 teachers utilizing a cross-sectional research design and an online-validated survey questionnaire. RESULTS: The study's findings revealed significant insights. Internet accessibility emerged as a major impediment for students, with online instruction proving more effective for theoretical subjects compared to practical ones. Although most teachers expressed comfort with online teaching, they highlighted the absence of classroom interaction as a significant challenge. CONCLUSION: This study comprehensively examines the perspectives of both students and teachers regarding online education during the pandemic. The results carry substantial implications for the academic community, underscoring the need to address internet access issues and explore ways to enhance engagement and interaction in online learning environments.


Asunto(s)
COVID-19 , Educación en Odontología , Educación a Distancia , Estudiantes de Odontología , Humanos , COVID-19/epidemiología , India/epidemiología , Estudios Transversales , Estudiantes de Odontología/psicología , Estudiantes de Odontología/estadística & datos numéricos , Masculino , Femenino , Educación en Odontología/métodos , Adulto , SARS-CoV-2 , Encuestas y Cuestionarios , Pandemias , Docentes de Odontología , Adulto Joven
3.
Neurogenetics ; 24(2): 113-127, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36790591

RESUMEN

Neurodegeneration with brain iron accumulation (NBIA) is an umbrella term encompassing various inherited neurological disorders characterised by abnormal iron accumulation in basal ganglia. We aimed to study the clinical, radiological and molecular spectrum of disorders with NBIA. All molecular-proven cases of NBIA presented in the last 5 years at 2 tertiary care genetic centres were compiled. Demographic details and clinical and neuroimaging findings were collated. We describe 27 individuals from 20 unrelated Indian families with causative variants in 5 NBIA-associated genes. PLA2G6-associated neurodegeneration (PLAN) was the most common, observed in 13 individuals from 9 families. They mainly presented in infancy with neuroregression and hypotonia. A recurrent pathogenic variant in COASY was observed in two neonates with prenatal-onset severe neurodegeneration. Pathogenic bi-allelic variants in PANK2, FA2H and C19ORF12 genes were observed in the rest, and these individuals presented in late childhood and adolescence with gait abnormalities and extrapyramidal symptoms. No intrafamilial and interfamilial variability were observed. Iron deposition on neuroimaging was seen in only 6/17 (35.3%) patients. A total of 22 causative variants across 5 genes were detected including a multiexonic duplication in PLA2G6. The variants c.1799G > A and c.2370 T > G in PLA2G6 were observed in three unrelated families. In silico assessments of 8 amongst 9 novel variants were also performed. We present a comprehensive compilation of the phenotypic and genotypic spectrum of various subtypes of NBIA from the Indian subcontinent. Clinical presentation of NBIAs is varied and not restricted to extrapyramidal symptoms or iron accumulation on neuroimaging.


Asunto(s)
Trastornos del Movimiento , Malformaciones del Sistema Nervioso , Adolescente , Recién Nacido , Humanos , Niño , Ganglios Basales , Genotipo , Trastornos del Movimiento/patología , Neuroimagen , Hierro , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Proteínas Mitocondriales/genética
4.
Nutr Neurosci ; 24(3): 212-225, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31149894

RESUMEN

Objectives: Curcuma amada Roxb. (Mango ginger) was evaluated for anti-obesity, anti-amnesic and neuroprotection using high-fat and high-sugar diet (HFHS)-induced obesity and cognitive impairment in rats. Methods: Animals were exposed to HFHS diet to evaluate lipid parameters and subjected to Y maze test and Pole climbing test to evaluate the memory. In addition, oxidative stress parameters, acetyl cholinesterase activity (AChE), neurochemicals and histopathology were assessed in the brain. Results: HFHS diet led to increased body weight and lipid parameters (total cholesterol, low-density lipoprotein [LDL], and very low-density lipoprotein [VLDL], triglycerides [TG]) but not high-density lipoprotein (HDL). Elevated serum glutamate oxalate transaminase (SGOT) and serum glutamate pyruvate transaminase (SGPT), oxidative biomarker, decreased enzymatic and non-enzymatic antioxidants, Acetylcholinesterase (AChE) activity and reduced percentage of spontaneous alternation behaviour (% SAB in Y-maze test) as well as reduced serotonin and dopamine levels and neurodegeneration were observed in HFHS diet-fed rats. Curcuma amada (CAAE1, 100 mg/kg and CAAE2, 300 mg/kg) treatment to HFHS diet-fed rats (21 days after HFHS diet feeding alone) showed dose-dependent activity and ameliorated the HFHS diet-induced alterations in lipid parameters related to obesity, hepatological parameters, memory, oxidative stress, neurochemicals and neurodegeneration. Furthermore, 300 mg/kg of C. amada (CAAE2) augmented the memory by inhibiting acetylcholinesterase (AChE) activity; it also ameliorated the effect of antioxidants such as glutathione, superoxide dismutase (SOD), and total thiol and mitigated the effect of malondialdehyde (MDA). CAAE2 also controlled the level of dopamine and serotonin and reduced the neurodegeneration in the hippocampus CA1 region. Discussion: The results of the present study indicated that treatment with C. amada 300 mg/kg (CAAE2) attenuated the HFHS diet-induced obesity, memory loss, oxidative stress, and neurodegeneration. These study results indicated that the administration of C. amada offers a potential treatment option for obesity and memory loss, and it requires further preclinical and clinical evaluations.


Asunto(s)
Curcuma , Dieta Alta en Grasa , Azúcares de la Dieta/administración & dosificación , Memoria/efectos de los fármacos , Fármacos Neuroprotectores/administración & dosificación , Obesidad/metabolismo , Obesidad/psicología , Extractos Vegetales/administración & dosificación , Animales , Conducta Animal , Masculino , Obesidad/complicaciones , Ratas Wistar
5.
Int J Clin Pract ; 75(11): e14858, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34516700

RESUMEN

AIM: The novel coronavirus disease-2019 (COVID-19) is a major health problem and has affected innumerable people around the world. The current online-based study was conducted to assess the knowledge, attitude and practice (KAP) of dental students and professionals during the early days of lockdown in India from 2 April to 1 May 2020. METHODOLOGY: An online-based cross-sectional study was undertaken through WhatsApp messenger and e-mail groups among dental students and professionals. The KAP on COVID-19 was ascertained using an investigator designed and validated questionnaire. The results were stratified based on student vs professionals. The data were expressed as frequency and percentage analysed using the chi-square/Fishers exact test using IBM version 17. A probability value of <.05 was considered significant. RESULTS: A total of 287 complete responses from the dental students and professionals were received. The results indicated that the knowledge of both dental students and professionals were good and that the attitude and practice were in accordance with good clinical practice. No significant differences were found within the domains of KAP scores among the dental students and practitioners indicating that the study participants were abreast with the recent advances. CONCLUSION: The results of this study conducted during the early stage of the lockdown indicated that the dental students and professionals who had filled the questionnaire had very good knowledge of coronavirus and COVID-19. CLINICAL IMPLICATIONS: The results of the study indicate that the volunteers had good knowledge, attitude and self-care practice, which are necessary in preventing the spread of COVID-19. It is anticipated that detailed hands-on training in practical aspects of good clinical practice with protective gears will help students and professionals perform the necessary dental procedures in accordance with the guidelines set by Centers for Disease Control and Prevention and World Health Organization.


Asunto(s)
COVID-19 , Pandemias , Control de Enfermedades Transmisibles , Estudios Transversales , Conocimientos, Actitudes y Práctica en Salud , Humanos , India/epidemiología , Pandemias/prevención & control , SARS-CoV-2 , Estudiantes de Odontología
6.
Epilepsy Behav ; 89: 159-168, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30415139

RESUMEN

Phenytoin (Dilantin) is an orally active, use-dependent voltage-gated sodium channel inhibitor and is a potent, economical, and widely used anticonvulsant agent. The objective of the present study was to investigate the effect of the combined treatment of naringin (40 mg/kg and 80 mg/kg) and phenytoin on prevention of seizure attacks, development of kindling, oxidative stress, cognitive impairment, and neurochemicals in the frontal cortex, temporal cortex, and hippocampus, and morphological changes in the hippocampus. Treatment with the high dose of naringin (80 mg/kg) along with phenytoin has shown to offer protection against seizures, development of kindling, and cognition enhancement through Y-maze test and improved % conditioned avoidance response (% CAR) through pole climbing test in pentylenetetrazole (PTZ)-induced kindling model. It has also been shown to improve neurochemical balance by elevating levels of Gamma amino butyric acid (GABA) and dopamine, decreasing levels of glutamate, oxidative biomarker (malondialdehyde (MDA)), and increasing levels of antioxidants (glutathione (GSH), superoxide dismutase (SOD), catalase (CAT), and total thiol and offered neuroprotection in the hippocampus. So, coadministration of naringin with phenytoin offers a potential treatment option for drug-resistant epilepsy and associated comorbidities. Interpretable research on flavonoids will support the clinical evidence for the recommendation of flavonoids as supplements with antiepileptic drugs (AEDs) for curtailing pharmacoresistant epilepsy and AED-associated comorbidities.


Asunto(s)
Anticonvulsivantes/administración & dosificación , Flavanonas/administración & dosificación , Excitación Neurológica/efectos de los fármacos , Pentilenotetrazol/toxicidad , Fenitoína/administración & dosificación , Convulsiones/tratamiento farmacológico , Animales , Antioxidantes/administración & dosificación , Quimioterapia Combinada , Hipocampo/efectos de los fármacos , Hipocampo/metabolismo , Excitación Neurológica/fisiología , Masculino , Estrés Oxidativo/efectos de los fármacos , Estrés Oxidativo/fisiología , Ratas , Ratas Wistar , Convulsiones/inducido químicamente , Convulsiones/metabolismo
7.
Chromosoma ; 124(2): 249-62, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25428210

RESUMEN

In mammals, X-inactivation process is achieved by the cis-spreading of long noncoding Xist RNA over one of the female X chromosomes. The Xist binding accumulates histones H3 methylation and H4 hypoacetylation required for X inactivation that leads to proper dosage compensation of the X-linked genes. Co-transcription of Tsix, an antisense copy of Xist, blocks the Xist coating on the Xi. In mice ES cells, an RNase III enzyme Dicer1 disrupts Xist binding and methylated H3K27me3 accumulation on the Xi. Later, multiple reports opposed these findings raising a question regarding the possible role of Dicer1 in murine X silencing. Here, we show that reduction of DICER1 in human female cells increases XIST transcripts without compromising the binding of the XIST and histone tail modifications on the Xi. Moreover, DICER1-depleted cells show differential upregulation of many human X-linked genes by binding different amounts of acetylated histone predominantly on their active promoter sites. Therefore, X-linked gene silencing, which is thought to be coupled with the accumulation of XIST and heterochromatin markers on Xi can be disrupted in DICER1 depleted human cells. These results suggest that DICER1 has no apparent effect on the recruitment of heterochromatic markers on the Xi but is required for inactivation of differentially regulated genes for the maintenance of proper dosage compensation in differentiated cells.


Asunto(s)
ARN Helicasas DEAD-box/genética , Silenciador del Gen , Genes Ligados a X , ARN Largo no Codificante/genética , Ribonucleasa III/genética , Inactivación del Cromosoma X , Animales , Diferenciación Celular , Cromatina/genética , Cromatina/metabolismo , Cromosomas Humanos X , ARN Helicasas DEAD-box/metabolismo , Daño del ADN , Células Madre Embrionarias/metabolismo , Femenino , Células HEK293 , Células HeLa , Histonas/genética , Histonas/metabolismo , Humanos , Células Jurkat , Masculino , Ratones , Regiones Promotoras Genéticas , Unión Proteica , ARN Largo no Codificante/metabolismo , ARN Interferente Pequeño/genética , ARN Interferente Pequeño/metabolismo , Ribonucleasa III/metabolismo , Transcripción Genética , Ubiquitina-Proteína Ligasas/genética , Ubiquitina-Proteína Ligasas/metabolismo
8.
BMC Cancer ; 16: 271, 2016 Apr 14.
Artículo en Inglés | MEDLINE | ID: mdl-27080994

RESUMEN

BACKGROUND: The incidence of and mortality from colorectal cancers (CRC) can be reduced by early detection. Currently there is a lack of established markers to detect early neoplastic changes. We aimed to identify the copy number variations (CNVs) and the associated genes which could be potential markers for the detection of neoplasia in both ulcerative colitis-associated neoplasia (UC-CRN) and sporadic colorectal neoplasia (S-CRN). METHODS: We employed array comparative genome hybridization (aCGH) to identify CNVs in tissue samples of UC nonprogressor, progressor and sporadic CRC. Select genes within these CNV regions as a panel of markers were validated using quantitative real time PCR (qRT-PCR) method along with the microsatellite instability (MSI) in an independent cohort of samples. Immunohistochemistry (IHC) analysis was also performed. RESULTS: Integrated analysis showed 10 overlapping CNV regions between UC-Progressor and S-CRN, with the 8q and 12p regions showing greater overlap. The qRT-PCR based panel of MYC, MYCN, CCND1, CCND2, EGFR and FNDC3A was successful in detecting neoplasia with an overall accuracy of 54% in S-CRN compared to that of 29% in UC neoplastic samples. IHC study showed that p53 and CCND1 were significantly overexpressed with an increasing frequency from pre-neoplastic to neoplastic stages. EGFR and AMACR were expressed only in the neoplastic conditions. CONCLUSION: CNVs that are common and unique to both UC-associated and sporadic colorectal neoplasm could be the key players driving carcinogenesis. Comparative analysis of CNVs provides testable driver aberrations but needs further evaluation in larger cohorts of samples. These markers may help in developing more effective neoplasia-detection strategies during screening and surveillance programs.


Asunto(s)
Colitis Ulcerosa/genética , Neoplasias Colorrectales/genética , Hibridación Genómica Comparativa , Variaciones en el Número de Copia de ADN/genética , Proteínas de Neoplasias/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Colitis Ulcerosa/complicaciones , Colitis Ulcerosa/patología , Neoplasias Colorrectales/complicaciones , Neoplasias Colorrectales/patología , Ciclina D1/genética , Ciclina D2/genética , Receptores ErbB/genética , Femenino , Fibronectinas/genética , Humanos , Masculino , Inestabilidad de Microsatélites , Persona de Mediana Edad , Proteína Proto-Oncogénica N-Myc/genética , Proteínas Proto-Oncogénicas c-myc/genética
9.
J Oral Pathol Med ; 44(5): 345-52, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25212455

RESUMEN

BACKGROUND: Tongue cancer is the most common intra-oral malignancy with a high rate of morbidity and mortality owing to its increased propensity for tumor invasion and metastasis. These processes require a controlled degradation of the extracellular matrix. Matrix Metalloproteinase-2 (MMP-2) and Matrix Metalloproteinase-9 (MMP-9) are known to be important regulators of matrix lysis and play a significant role in the metastasis of malignancies. AIM AND OBJECTIVES: To study the expression of MMP-2 and MMP-9 in the early stages of tongue squamous cell carcinoma and find the association between their expression and local recurrence, metastasis, and survival rates of the subjects. MATERIALS AND METHODS: Fifty-nine tumor biopsy samples of tongue squamous cell carcinoma in T1 N0 M0 and T2 N0 M0 stages were immunostained with MMP-2 and MMP-9 antibodies. The immunohistochemical expression was compared with the patient characteristics and outcome. RESULTS: Cytoplasmic expression of MMP-2 correlated with that of MMP-9 (r = 0.716, P < 0.001). Greater expression of MMP-2 and MMP-9 was observed in patients who subsequently developed local recurrence (P = 0.044 and P < 0.001, respectively), regional and/or distant metastasis (P < 0.001 and P = 0.001, respectively) of the tumor. Further, a higher expression of these biomarkers was associated with shorter survival. MMP-9 was found to have better specificity for local recurrence, metastasis and survival. CONCLUSION: Our results showed that these biomarkers may serve as indicators of a patient's risk potential for poor prognosis and presage the need for more aggressive treatment measures.


Asunto(s)
Biomarcadores de Tumor/biosíntesis , Metaloproteinasa 2 de la Matriz/biosíntesis , Metaloproteinasa 9 de la Matriz/biosíntesis , Neoplasias de la Lengua/enzimología , Estudios de Cohortes , Femenino , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Metástasis de la Neoplasia , Estadificación de Neoplasias , Pronóstico , Tasa de Supervivencia , Neoplasias de la Lengua/patología
10.
J Hand Surg Am ; 39(5): 937-9, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24582847

RESUMEN

Superficial angiomyxoma is a distinctive cutaneous soft tissue neoplasm commonly involving dermal and subcutaneous tissues and showing a prominent angiomyxoid matrix interspersed with numerous blood vessels. We report a case of superficial angiomyxoma in a 70-year-old man who presented with a fungating swelling on the distal phalanx of the thumb mimicking a malignant tumor. The diagnosis of superficial angiomyxoma was made based on histopathology and immunohistochemistry. We report this lesion because of its rare presentation with extensive distal phalangeal osteolysis mimicking a malignant bone tumor.


Asunto(s)
Neoplasias Óseas/diagnóstico , Mixoma/diagnóstico , Neoplasias de los Tejidos Blandos/diagnóstico , Pulgar , Anciano , Diagnóstico Diferencial , Humanos , Masculino , Mixoma/patología , Neoplasias de los Tejidos Blandos/patología
11.
PeerJ ; 12: e17237, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38699192

RESUMEN

Background: Root perforation repair presents a significant challenge in dentistry due to inherent limitations of existing materials. This study explored the potential of a novel polydopamine-based composite as a root repair material by evaluating its sealing efficacy, radiopacity, and surface topography. Methods: Confocal microscopy assessed sealing ability, comparing the polydopamine-based composite to the gold standard, mineral trioxide aggregate (MTA). Radiopacity was evaluated using the aluminium step wedge technique conforming to ISO standards. Surface roughness analysis utilized atomic force microscopy (AFM), while field emission scanning electron microscopy (FESEM) visualized morphology. Results: The polydopamine-based composite exhibited significantly superior sealing efficacy compared to MTA (P < 0.001). Radiopacity reached 3 mm aluminium equivalent, exceeding minimum clinical requirements. AFM analysis revealed a smooth surface topography, and FESEM confirmed successful composite synthesis. Conclusion: This study demonstrates promising properties of the polydopamine-based composite for root perforation repair, including superior sealing efficacy, clinically relevant radiopacity, and smooth surface topography. Further investigation is warranted to assess its clinical viability and potential translation to endodontic practice.


Asunto(s)
Compuestos de Aluminio , Compuestos de Calcio , Indoles , Óxidos , Polímeros , Materiales de Obturación del Conducto Radicular , Silicatos , Propiedades de Superficie , Polímeros/química , Indoles/química , Silicatos/química , Compuestos de Calcio/química , Óxidos/química , Materiales de Obturación del Conducto Radicular/química , Compuestos de Aluminio/química , Humanos , Combinación de Medicamentos , Microscopía Electrónica de Rastreo , Microscopía de Fuerza Atómica/métodos , Microscopía Confocal , Ensayo de Materiales , Raíz del Diente/lesiones , Raíz del Diente/diagnóstico por imagen , Raíz del Diente/cirugía
12.
ACS Omega ; 9(24): 25766-25778, 2024 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-38911713

RESUMEN

MXene, a new 2D transition metal carbide-based material, is gaining outstanding attention in recent days in the area of separation and purification. In this study, we have successfully synthesized vanadium-based MXene-V2CT x (where T represents functional groups such as -OH, O, and F) by etching an aluminum layer from V2AlC. For the first time, a vanadium-based MXene-V2CT x -embedded mixed matrix membrane was fabricated and utilized for removal of hazardous dye and humic acid from wastewater. With an increase in V2CT x loading, the hydrophilicity of the polyphenylsulfone (PPSU) membrane reasonably improved, and its water contact angle was reduced from 82.8 to 70.9°. V2CT x nanosheet-embedded PPSU membrane exhibited an excellent pure water permeability of 247 L m-2 h-1, which was 266% elevated than the pristine PPSU membrane. The V2CT x -PPSU membrane revealed a good antifouling nature, thermal stability, and 98.5% removal of humic acid. The optimal membrane exhibited 96.6 and 82.02% expulsion of Reactive Black 5 (RB 5) dye and Reactive Orange 16 (RO 16) dye, respectively. The flux for RO 16 and RB 5 dyes and humic acid were remarkable with a value of 202.02, 161.61, and 141.41 L m-2 h-1, respectively. This work provides a new V2CT x -incorporated PPSU ultrafiltration membrane to effectively treat humic acid and dye wastewater.

13.
Clin Exp Nephrol ; 17(5): 725-729, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23292176

RESUMEN

BACKGROUND: We studied the urinary abnormalities and acute kidney injury (AKI) as per RIFLE criteria in scrub typhus. METHODS: A prospective case record-based study of scrub typhus was carried out from January 2009 to December 2010 in a tertiary hospital in South India. Patients were followed up until renal recovery or for at least 3 months after discharge. Univariate, chi-squared tests and multivariate logistic regression analyses were performed to identify the predictors of AKI. RESULTS: Scrub typhus was diagnosed in 259 patients. Urinary abnormalities were seen in 147 patients (56.7%) with 60 patients (23.2%) having AKI. All AKI patients had urinary abnormalities and 17 (28.3%) were oliguric. Applying RIFLE (risk, injury, failure, loss, end-stage kidney disease) criteria, R, I, F were present in 23 (38.33%), 13 (21.67%), and 24 patients (40%), respectively. Creatine phosphokinase (CPK) was raised in 33 patients (55%) and hemodialysis was required in 6 patients (10%). The case fatality rate in this study was 2 out of 259 (0.77%), both having AKI and others recovering clinically. Significant predictors of AKI were tachycardia [odds ratio (OR) 2.28], breathlessness (OR 2.281), intensive care requirement (OR 2.43), mechanical ventilation (OR 3.33), thrombocytopenia (OR 2.90) and CPK>80 U/L (OR 1.76) by univariate analysis and intensive care requirement (adjusted OR 2.89) and thrombocytopenia (AOR 2.28) by multivariable logistic regression. CONCLUSION: Scrub typhus should be part of the differential diagnosis of acute febrile illness with AKI. AKI in scrub typhus is usually mild, non-oliguric, and renal recovery occurs in most patients. Rhabdomyolysis may be contributory to AKI. Thrombocytopenia and intensive care requirement are significant predictors of AKI in scrub typhus.


Asunto(s)
Lesión Renal Aguda/microbiología , Orientia tsutsugamushi/aislamiento & purificación , Tifus por Ácaros/microbiología , Lesión Renal Aguda/diagnóstico , Lesión Renal Aguda/epidemiología , Lesión Renal Aguda/fisiopatología , Lesión Renal Aguda/terapia , Lesión Renal Aguda/orina , Adulto , Biomarcadores/orina , Distribución de Chi-Cuadrado , Creatina Quinasa/orina , Femenino , Humanos , Incidencia , India/epidemiología , Riñón/fisiopatología , Modelos Logísticos , Masculino , Análisis Multivariante , Oportunidad Relativa , Oliguria/epidemiología , Estudios Prospectivos , Recuperación de la Función , Diálisis Renal , Factores de Riesgo , Tifus por Ácaros/diagnóstico , Tifus por Ácaros/epidemiología , Índice de Severidad de la Enfermedad , Centros de Atención Terciaria , Factores de Tiempo , Resultado del Tratamiento
14.
Malays J Med Sci ; 20(2): 81-4, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23983583

RESUMEN

The epithelioid variant of malignant peripheral nerve sheath tumours is a rare histological entity, and the occurrence of a malignant peripheral nerve sheath tumour in the skull base is even more unusual. We report a case of a 52-year-old man who presented with reduced hearing in the left ear, giddiness and left-sided facial weakness of short duration. He was a known hypertensive. On examination, left-sided 7th to 12th cranial nerve palsies were noted. Computed tomography (CT) and brain magnetic resonance imaging (MRI) were reported as an ill-defined heterogeneously enhancing mass left skull base suggestive of chondrosarcoma. Left tympanotomy and biopsy of the lesion were carried out. On light microscopy and immunohistochemical examination of the biopsy, a diagnosis of epithelioid malignant peripheral nerve sheath tumour was established. The patient underwent left extended modified radical mastoidectomy and selective neck dissection. Histopathological study of the resected surgical specimen confirmed left-sided extensive tumour involvement of skull base structures, as well as neck nodal metastases.

15.
Cureus ; 15(6): e40850, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37489217

RESUMEN

INTRODUCTION: The POSSUM (Physiologic and Operative Severity Score for the Study of Mortality and Morbidity) and Portsmouth-POSSUM (P-POSSUM) models have been popularly recommended as appropriate for predicting postoperative mortality and morbidity in surgical practice. This study aims to evaluate the efficacy and accuracy of both scoring systems for surgical risk assessment in predicting postoperative mortality and morbidity in patients undergoing emergency abdominal surgeries. METHODOLOGY: The study was conducted as a part of a post-doctoral fellowship program. A total of 150 patients, undergoing emergency abdominal surgery in a tertiary care hospital in Bhubaneswar, were evaluated using POSSUM and P-POSSUM. Physiological scoring was done prior to surgery and operative scoring was performed intra-operatively. Patients were followed up for 30 days after the operative period. The observed mortality rate was then compared with POSSUM and P-POSSUM predicted mortality rates. RESULTS: POSSUM predicted a morbidity rate of 116, whereas the actual morbidity rate was 92 (p < 0.05). P-POSSUM predicted a morbidity rate of 109, whereas the actual morbidity rate was 92 (p < 0.05). POSSUM predicted a mortality rate of 23, whereas the actual mortality rate was 21 (p < 0.05). P-POSSUM predicted a mortality rate of 25, whereas the actual mortality rate was 21 (p < 0.05). CONCLUSIONS: With a reasonably good prediction of morbidity and mortality rate, POSSUM and P-POSSUM scores are both effective scoring systems in clinical practice for use in abdominal surgery.

16.
Eur J Hum Genet ; 2023 Dec 20.
Artículo en Inglés | MEDLINE | ID: mdl-38114583

RESUMEN

The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic spectrum of 54 families (55 individuals) with syndromic ID harboring rare de novo variants. We also emphasize on the effectiveness of singleton exome sequencing as a valuable tool for diagnosing these disorders in resource limited settings. Overall, 46 distinct disorders were identified encompassing 46 genes with 51 single-nucleotide variants and/or indels and two copy-number variants. Pathogenic variants were identified in CREBBP, TSC2, KMT2D, MECP2, IDS, NIPBL, NSD1, RIT1, SOX10, BRWD3, FOXG1, BCL11A, KDM6B, KDM5C, SETD5, QRICH1, DCX, SMARCD1, ASXL1, ASXL3, AKT3, FBN2, TCF12, WASF1, BRAF, SMARCA4, SMARCA2, TUBG1, KMT2A, CTNNB1, DLG4, MEIS2, GATAD2B, FBXW7, ANKRD11, ARID1B, DYNC1H1, HIVEP2, NEXMIF, ZBTB18, SETD1B, DYRK1A, SRCAP, CASK, L1CAM, and KRAS. Twenty-four of these monogenic disorders have not been previously reported in the Indian population. Notably, 39 out of 53 (74%) disease-causing variants are novel. These variants were identified in the genes mainly encoding transcriptional and chromatin regulators, serine threonine kinases, lysosomal enzymes, molecular motors, synaptic proteins, neuronal migration machinery, adhesion molecules, structural proteins and signaling molecules.

17.
Cureus ; 14(11): e32038, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36600856

RESUMEN

BACKGROUND: Postoperative pain caused by laparoscopic cholecystectomy can be controlled by different methods. The study aimed to observe the efficacy of laparoscopic transversus abdominis plane (TAP) block in laparoscopic cholecystectomy and to analyze the cost-effectiveness of the procedure in comparison to the non-TAP method. METHODS:  In this double-blinded randomized clinical trial, the subjects who had come for cholecystectomy were randomly divided into two groups (n = 43 in each group). Group A received laparoscopy-guided subcostal TAP block bilaterally (0.25% bupivacaine, 20 ml each) along with parenteral analgesics (100 mg tramadol injection in 100 ml normal saline IV) SOS as rescue analgesia, and group B received parenteral analgesics (injection paracetamol 1 gm IV) eight hourly and injection tramadol 100 mg in 100 ml normal saline IV SOS as rescue analgesia. RESULT:  A bulge was visualized by the surgeon through a laparoscope as a signature view for confirming the placement of local anesthetic in TAP. Based on the Visual Analog Scale (VAS) for assessment of postoperative pain and the Numeric Rating Scale (NRS) for assessment of pain at 30 minutes, four hours, eight hours, 12 hours, and 24 hours postoperatively, patients of both groups were assessed. According to the VAS, the pain assessment was better in the TAP block group at 30 minutes post-surgery than in the non-TAP group. As a primary outcome, 37% of TAP block group cases were recovered without any rescue analgesia. VAS score revealed a significant difference in postoperative nausea and vomiting (PONV) among the TAP block and non-TAP groups. PONV at four hours, eight hours, and 12 hours showed significantly lesser incidences in the TAP group as compared to the non-TAP group (p-value: 0.015, 0.028, and 0.055, respectively). CONCLUSION:  The cost-effectiveness of the TAP block method is 20 times lesser than the non-TAP method. Thus, a laparoscopic-guided TAP block could offer better postoperative analgesia at a low cost with a similar advantage to a USG-guided TAP block.

18.
Vaccines (Basel) ; 10(12)2022 Dec 06.
Artículo en Inglés | MEDLINE | ID: mdl-36560491

RESUMEN

Globally, the pandemic of the coronavirus disease, which started in Wuhan, China, has become a major issue for public health. The COVID-19 epidemic notably causes health professionals to experience significantly more emotional stress than the general populace. The present study proposes to investigate the fear aspect in dentists in the initiation of clinical practice during these times. An online cross-sectional study was conducted among dental practitioners based on a pre-validated questionnaire. The data were expressed as frequency and percentage analyzed using the chi-square test using SPSS version 25. The data was obtained from 271 participants, where clinical practice after the first wave was mostly by freelancers (p-value = 0.01); most of whom were married (p-value = 0.065); 19.1% attached to institutes did not have changes in earnings; 28.1% of private practitioners had less than 10% reduction in cases. A total of 62% of private practitioners are concerned about the vaccine's preventative effects (p-value = 0.026), and 57% of private practitioners worry about being sued for the delay in treatment (p-value = 0.036). Only 33.1% of employees in institutions worry that becoming sick could endanger their family. As dentists continue to work their way through this pandemic, these pressures only occasionally have an impact on them. According to the researchers, this is the first study that has captured the anxiety and apprehensions that dental practitioners experienced during the height of the COVID-19 outbreak in India in April 2021. The study's findings demonstrate that the study population was generally upbeat and confident that they could quickly overcome their fear.

19.
Breast Cancer Res Treat ; 127(3): 751-60, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21107681

RESUMEN

We analyzed the length of the CAG repeats of the androgen receptor gene in Indian women with breast cancer, and compared the data with that of other populations across the world in an attempt to find a potential pattern of association. The study was undertaken on 1,408 individuals comprising 747 breast cancer patients and 661 control individuals recruited from three southern states of India: Andhra Pradesh, Tamil Nadu, and Karnataka. The comparison revealed no difference in mean length of the repeat between cases and controls in any of the three groups or in the analysis of pooled data. No significant difference between pre- and post-menopausal cases in any of the three groups or in the analysis of pooled data was observed. Most of the studies to date support either positive association (longer repeats--increased disease risk) or no association, and only 2 out of 20 studies reported negative association (inverse correlation between repeat length and disease risk). Comparison of these data with those from other populations revealed several interesting facts. Particularly notable is that repeat length shows association with breast cancer risk in a population-specific manner with most of the studies on American and Canadian women showing positive association, whereas those on Australian and Israeli women showing no association. Only one study had been conducted on other populations including Asians/South Asians; this restricted us from finding any patterns of association in these populations.


Asunto(s)
Neoplasias de la Mama/genética , Estudios de Asociación Genética , Polimorfismo Genético , Receptores Androgénicos/genética , Secuencias Repetidas en Tándem , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Andrógenos/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , India , Persona de Mediana Edad , Factores de Riesgo
20.
Gynecol Endocrinol ; 27(8): 572-8, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20672904

RESUMEN

OBJECTIVE: Present study was designed for carrying out the mutational analysis of the entire Androgen receptor (AR) gene including two microsatellite (CAG)n, (GGN)n, promoter region in cases of premature ovarian failure (POF) and primary amenorrhea (PA). DESIGN: Previous reports of AR knockout mice model showed POF phenotype, this draws an attention on the role of AR gene in the aetiology of POF for the case-control association studies in POF samples (n = 133), PA samples (n = 63) and control samples (n = 200). RESULTS: We identified six mutations including four novel mutations, i.e. c.636G > A, c.1885 + 9C > A, c.1948A > G, c.1972C > A, and two previously reported mutations, i.e. c.639G > A, c.2319-78T > G. Repeat length variation was noted in the two microsatellite regions CAG and GGN, located in the coding region of exon 1 at the N-terminal region of the AR gene. The CAG repeat length was homogeneously distributed with the same frequency and no association among all cases and controls. The GGN repeat showed a significant association among the SS and SL allele with p = 0.0231 and p = 0.0476, respectively, among the POF/control samples. CONCLUSIONS: Thus, AR gene mutations may play a role in the genetic cause of POF. Identification of the underlying genetic alteration of the AR gene is important for a proper diagnosis of POF subjects.


Asunto(s)
Mutación de Línea Germinal , Polimorfismo de Nucleótido Simple , Insuficiencia Ovárica Primaria/genética , Receptores Androgénicos/genética , Adulto , Amenorrea/genética , Sustitución de Aminoácidos , Estudios de Casos y Controles , Análisis Mutacional de ADN , Exones , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Humanos , India , Intrones , Repeticiones de Microsatélite , Regiones Promotoras Genéticas
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