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31.
NA Hanchard DR Murdock PL Magoulas M Bainbridge D Muzny YQ Wu M Wang AL McGuire JR Lupski RA Gibbs CW Brown 《Clinical genetics》2013,83(5):457-461
The advent of whole‐exome next‐generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½‐year old female patient with a 2‐year history of episodic muscle weakness and paroxysmal dystonia who presented following a previous extensive but unrevealing diagnostic work‐up. WES was performed on the proband and her two parents. Parental exome data was used to filter potential de novo genomic events in the proband and suspected variants were confirmed using di‐deoxy sequencing. WES revealed a de novo non‐synonymous mutation in exon 21 of the calcium channel gene CACNA1S that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis. This was unexpected, as the proband's original differential diagnosis had included hypokalemic periodic paralysis, but clinical and laboratory features were equivocal, and standard clinical molecular testing for hypokalemic periodic paralysis and related disorders was negative. This report highlights the potential diagnostic utility of WES in clinical practice, with implications for the approach to similar diagnostic dilemmas in the future. 相似文献
32.
Kuldeep Kumar Rekha Lalwani Ramesh Babu Sangeeta Aneja Anuj Malik 《Journal of the Anatomical Society of India》2013,62(1):33-36
Introduction: Fetal kidney length vs biparietal diameter (BPD) and femur length (FL) were comparatively evaluated and the role of fetal kidney length in estimating gestational age was determined in the second and third trimesters. Materials and methods: The study was carried out on 199 women with singleton uncomplicated pregnancies attending the outdoor patient department (OPD) for routine ultrasound fetal biometry. Fetal kidney length was measured biweekly, between 18 weeks and 38 weeks of gestation. Linear regression models for estimation of gestational age were derived from biometric indices (BPD and FL) and kidney length. Result: The earliest age at which fetal kidney could be seen sonographically was the 18th week of gestation with the mean kidney length of 12 ± 1.31 mm. The mean sonographic kidney length at the 38th week of gestation was 40.4 ± 1.71 mm, indicating that the mean fetal kidney length increases as pregnancy progresses from 18 weeks to 38 weeks of gestation. Conclusion: The best linear regression model for estimating fetal gestational age is femur length, kidney length, and biparietal diameter in that order, with standard error of ±3.85 days, ±8.04 days, and ±8.75 days, respectively. 相似文献
33.
Prasanna Mithra Prithvishree Ravindra B Unnikrishnan T Rekha Tanuj Kanchan Nithin Kumar Mohan Papanna Vaman Kulkarni Ramesh Holla K Divyavaraprasad 《Indian Journal of Palliative Care》2013,19(2):83-87
Background:
Organ transplantation is the most preferred treatment modality for end-stage organ diseases. The need for the transplants is higher than the availability. Prerequisites for the success of transplantation program include awareness and positive attitudes.Aim:
To assess the perceptions and attitudes of the people seeking health care in tertiary care centers towards organ donation in Mangalore, India.Settings and Design:
This cross-sectional study included 863 people seeking general healthcare as outpatients.Materials and Methods:
Face to face interviews were carried out using pretested tools which included the socio demographic data. Data was analyzed using Statistical Package for Social Sciences version 11.5.Results:
Overall, 59.6% participants showed the willingness to donate organs. Females (64.1%) and participants from upper socio economic status (62.7%) had higher willingness rates for organ donations. Hindus (63.6%) and Christians (63.3%) had higher willingness rates for organ donations than Muslims (38.2%). Also, 23.7% participants showed willingness to donate eyes and 33.6% wished to donate any organ after death. Most of the participants (67%) were aware that money should not be accepted for donating organs, and 58.1% were aware that it is an offence to accept any benefit for organ donations. Forty percent participants had perceived risks associated with organ donation. Regarding donor cards, 42.3% of the participants knew about it and 3.7% already possessed it.Conclusion:
It is apparent from the study that though there was high level of awareness about organ donation, a high proportion of the participants did not have positive attitudes towards organ donation. 相似文献34.
Sathyaprasad Savitha S. M. Sharma Shetty Veena R. Rekha 《Indian Journal of Plastic Surgery》2015,48(2):159-164
Background:
The bone morphogenetic protein (BMP) signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation.Aim:
To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P) and identify it directly from human analyses.Materials and Methods:
A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A) in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations) were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP.Results:
Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99). The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41).Conclusion:
This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality.KEY WORDS: Aetiology of non-syndromic cleft lip and palate, bone morphogenetic protein 4 gene, bone morphogenetic protein gene 相似文献35.
Reem Z. Sharaiha Kaveh Hajifathalian Rekha Kumar Katherine Saunders Amit Mehta Bryan Ang Daniel Skaf Shawn Shah Andrea Herr Leon Igel Qais Dawod Enad Dawod Kartik Sampath David Carr-Locke Robert Brown David Cohen Andrew J. Dannenberg Srihari Mahadev Louis J. Aronne 《Clinical gastroenterology and hepatology》2021,19(5):1051-1057.e2
36.
Hamady Dieng Rahimah Binti Hassan Ahmad Abu Hassan Idris Abd Ghani Fatimah Bt Abang Tomomitsu Satho Fumio Miake Hamdan Ahmad Yuki Fukumitsu Nur Aida Hashim Wan Fatma Zuharah Nur Faeza Abu Kassim Abdul Hafiz Ab Majid Rekha Selvarajoo Cirilo Nolasco-Hipolito Olaide Olawunmi Ajibola Andrew Alek Tuen 《Acta tropica》2015
Even with continuous vector control, dengue is still a growing threat to public health in Southeast Asia. Main causes comprise difficulties in identifying productive breeding sites and inappropriate targeted chemical interventions. In this region, rural families keep live birds in backyards and dengue mosquitoes have been reported in containers in the cages. To focus on this particular breeding site, we examined the capacity of bird fecal matter (BFM) from the spotted dove, to support Aedes albopictus larval growth. The impact of BFM larval uptake on some adult fitness traits influencing vectorial capacity was also investigated. In serial bioassays involving a high and low larval density (HD and LD), BFM and larval standard food (LSF) affected differently larval development. At HD, development was longer in the BFM environment. There were no appreciable mortality differences between the two treatments, which resulted in similar pupation and adult emergence successes. BFM treatment produced a better gender balance. There were comparable levels of blood uptake and egg production in BFM and LSF females at LD; that was not the case for the HD one, which resulted in bigger adults. BFM and LSF females displayed equivalent lifespans; in males, this parameter was shorter in those derived from the BFM/LD treatment. Taken together these results suggest that bird defecations successfully support the development of Ae. albopictus. Due to their cryptic aspects, containers used to supply water to encaged birds may not have been targeted by chemical interventions. 相似文献
37.
Rekha Mittal 《Indian journal of pediatrics》2014,81(9):909-916
Febrile seizures are the most common seizures of childhood. A family history of febrile seizures is common, and the disorder is genetically heterogenous. While guidelines are available for management of simple febrile seizures, the management of complex febrile seizures is individualised. After a febrile seizure, it is important to rule out CNS infection and the decision to perform a lumbar puncture should be based on the clinical condition of the child. Neuroimaging and EEG are not required immediately in workup for simple or complex febrile seizures. Recurrence of febrile seizures may be managed at home by the parents with benzodiazepines. If the recurrences are multiple or prolonged and parents are unable to give home treatment, intermittent benzodiazepine prophylaxis may be given. Continuous antiepileptic prophylaxis may be given only to the children where intermittent prophylaxis has failed. Febrile seizures are also associated with increased risk of epilepsy, but this cannot be prevented by any form of treatment. There is also an increased risk of mesial temporal sclerosis, but whether this is an effect or cause of febrile seizures is as yet unclear. There is no increase in neurological handicaps or mortality following febrile seizures. 相似文献
38.
39.
Stefan Zeuzem Thomas Berg Edward Gane Peter Ferenci Graham R. Foster Michael W. Fried Christophe Hezode Gideon M. Hirschfield Ira Jacobson Igor Nikitin Paul J. Pockros Fred Poordad Jane Scott Oliver Lenz Monika Peeters Vanitha Sekar Goedele De Smedt Rekha Sinha Maria Beumont-Mauviel 《Gastroenterology》2014
40.
Ma X Helgason E Phung QT Quan CL Iyer RS Lee MW Bowman KK Starovasnik MA Dueber EC 《Proceedings of the National Academy of Sciences of the United States of America》2012,109(24):9378-9383
Tank-binding kinase (TBK)1 plays a central role in innate immunity: it serves as an integrator of multiple signals induced by receptor-mediated pathogen detection and as a modulator of IFN levels. Efforts to better understand the biology of this key immunological factor have intensified recently as growing evidence implicates aberrant TBK1 activity in a variety of autoimmune diseases and cancers. Nevertheless, key molecular details of TBK1 regulation and substrate selection remain unanswered. Here, structures of phosphorylated and unphosphorylated human TBK1 kinase and ubiquitin-like domains, combined with biochemical studies, indicate a molecular mechanism of activation via transautophosphorylation. These TBK1 structures are consistent with the tripartite architecture observed recently for the related kinase IKKβ, but domain contributions toward target recognition appear to differ for the two enzymes. In particular, both TBK1 autoactivation and substrate specificity are likely driven by signal-dependent colocalization events. 相似文献