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71.
Ultrasound is often the initial imaging examination performed of the solid organs of the pediatric abdomen. The sonographic appearance of the hepatobiliary system, pancreas and spleen changes with growth and development. This article reviews the normal US appearance of these organs in children and illustrates, through case examples, congenital and inherited conditions that affect them. 相似文献
72.
Diana Rofail Daniel Froggatt Rafael de la Torre Jamie Edgin Priya Kishnani Renaud Touraine Sarah Whitwham Lisa Squassante Omar Khwaja Xavier Liogier D’Ardhuy 《Advances in therapy》2017,34(8):2058-2069
Introduction
To date, there is little research on health-related quality of life (HRQoL) in Down syndrome (DS), and existing research is variable with regard to reported HRQoL in DS. There are also no HRQoL measures developed specifically to be used with individuals with Down syndrome.Methods
A multi-national, longitudinal, 24-week non-interventional study was conducted in adolescents and adults with DS. HRQoL was assessed (n = 90) using the parent-report KIDSCREEN-27 questionnaire.Results
HRQoL domain scores were found to be similar to those in the KIDSCREEN-27 European normative group data set on the Physical Well-being, Psychological Well-being, Autonomy and Parent Relations domains. Compared with the normative data set, the adolescent participants with DS in the current study were found to have lower scores on the Social Support and Peers domain and higher scores than the normative group on the School Environment domain. The test-retest reliability of the KIDSCREEN-27 was also examined using the intraclass correlation coefficient (ICC) in a subgroup of stable participants. The KIDSCREEN-27 demonstrated poor-to-moderate test-retest reliability; however, test-retest reliability was assessed using a long time interval between assessment time points.Conclusion
The findings of this study underline that further research is needed to better understand the nature of HRQoL in DS. Further research using a shorter time interval between assessment time points to examine test-retest reliability is also required.Funding
F. Hoffmann-La Roche Ltd.73.
74.
Creutzfeldt-Jakob disease : report of 10 cases from North India. 总被引:3,自引:0,他引:3
M M Mehndiratta B K Bajaj M Gupta R Anand M Tatke S Seryam R Nehru V Puri G A Khwaja 《Neurology India》2001,49(4):338-341
Creutzfeldt-Jakob disease (CJD) is increasingly being reported over the last three decades as a result of heightened awareness of the disease. Various studies have reported annual incidence of 0.5-1.5 cases of CJD per million of general population. In India, the disease is still under reported. Over the period spanning from 1968-1997, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore recorded 69 cases of CJD from different parts of India in the CJD registry. This paper describes the clinical experience with cases of CJD managed at the Department of Neurology, G.B. Pant Hospital, New Delhi from 1990-1998. In this series, the mean age of the patients was 53.80 (+/- 7.32) years and there were 5 females and 5 males. Myoclonus was present in all the cases and abnormal behaviour with or without other features was the presenting complaint in 7 of the 10 patients, while one patient of CJD had cerebellar ataxia as the presenting feature. One patient with occipital variant of CJD presented with acute onset cortical blindness and myoclonic jerks. One of the patients had acute psychosis precipitated by emotional stress at the onset. Extrapyramidal features were noted in 7 of the 10 patients before death. The mean duration of symptoms from the onset of disease to death was 6.6 (+/- 6.11) months. Classical EEG changes were observed in all the patients, except in one possible case of occipital variant of CJD, where we did not have access to EEG record. Brain biopsy could be undertaken in 3 patients, and in 2 patients the features of subacute spongiform encephalopathy (SSE) were noted. 相似文献
75.
76.
77.
Fahad Shamsi Khwaja Y. Hasan Shahrukh Hashmani Syed F. Jamal Samer Ellaham 《Journal of the Saudi Heart Association》2021,33(1):9
The term myocardial infarction with non-obstructive coronary arteries (MINOCA) applies to patients who have clinical evidence of AMI but coronary angiography reveals no coronary obstructions and an alternative diagnosis is not possible. It is a heterogenous group of disease. Its prognosis, predictors of mortality and optimum management is unclear. In this review, we present a disease overview for MINOCA including the clinical features, adopted definitions, prevalence, diagnosis, treatment, and prognosis. 相似文献
78.
Joel Frohlich Meghan T. Miller Lynne M. Bird Pilar Garces Hannah Purtell Marius C. Hoener Benjamin D. Philpot Michael S. Sidorov Wen-Hann Tan Maria-Clemencia Hernandez Alexander Rotenberg Shafali S. Jeste Michelle Krishnan Omar Khwaja Joerg F. Hipp 《Neuropsychopharmacology》2019,85(9):752-759
Background
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by either disruptions of the gene UBE3A or deletion of chromosome 15 at 15q11-q13, which encompasses UBE3A and several other genes, including GABRB3, GABRA5, GABRG3, encoding gamma-aminobutyric acid type A receptor subunits (3, 5, 3). Individuals with deletions are generally more impaired than those with other genotypes, but the underlying pathophysiology remains largely unknown. Here, we used electroencephalography (EEG) to test the hypothesis that genes other than UBE3A located on 15q11-q13 cause differences in pathophysiology between AS genotypes.Methods
We compared spectral power of clinical EEG recordings from children (1–18 years of age) with a deletion genotype (n = 37) or a nondeletion genotype (n = 21) and typically developing children without Angelman syndrome (n = 48).Results
We found elevated theta power (peak frequency: 5.3 Hz) and diminished beta power (peak frequency: 23 Hz) in the deletion genotype compared with the nondeletion genotype as well as excess broadband EEG power (1–32 Hz) peaking in the delta frequency range (peak frequency: 2.8 Hz), shared by both genotypes but stronger for the deletion genotype at younger ages.Conclusions
Our results provide strong evidence for the contribution of non-UBE3A neuronal pathophysiology in deletion AS and suggest that hemizygosity of the GABRB3-GABRA5-GABRG3 gene cluster causes abnormal theta and beta EEG oscillations that may underlie the more severe clinical phenotype. Our work improves the understanding of AS pathophysiology and has direct implications for the development of AS treatments and biomarkers. 相似文献79.
Lazaros C. Foukas Inma M. Berenjeno Alexander Gray Asim Khwaja Bart Vanhaesebroeck 《Proceedings of the National Academy of Sciences of the United States of America》2010,107(25):11381-11386
Small molecule inhibitors of PI3K for oncology mainly target the class I PI3Ks, comprising the p110α, β, γ, and δ isoforms, of which only p110α is mutated in cancer. To assess the roles of class I PI3K isoforms in cell proliferation and survival, we generated immortalized mouse leukocyte and fibroblast models in which class I PI3Ks were inactivated by genetic and pharmacological approaches. In IL3-dependent hemopoietic progenitor cells (which express all four class I PI3K isoforms), genetic inactivation of either p110α or p110δ did not affect cell proliferation or survival or sensitize to p110β or p110γ inactivation. Upon compound inactivation of p110α and p110δ, which removed >90% of p85-associated PI3K activity, remarkably, cells continued to proliferate effectively, with p110β assuming an essential role in signaling and cell survival. Furthermore, under these conditions of diminished class I PI3K activity, input from the ERK pathway became important for cell survival. Similar observations were made in mouse embryonic fibroblasts (which mainly express p110α and p110β) in which p110α or p110β could sustain cell proliferation as a single isoform. Taken together, these data demonstrate that a small fraction of total class I PI3K activity is sufficient to sustain cell survival and proliferation. Persistent inhibition of selected PI3K isoforms can allow the remaining isoform(s) to couple to upstream signaling pathways in which they are not normally engaged. Such functional redundancy of class IA PI3K isoforms upon sustained PI3K inhibition has implications for the development and use of PI3K inhibitors in cancer. 相似文献
80.