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Urmila Steffie Avanthi Govardhan Bale Mohsin Aslam Rupjyoti Talukdar Nageshwar Reddy Duvvur Vishnubhotla Ravikanth Venkata 《Indian journal of gastroenterology》2018,37(1):67-69
Mutations in PRSS1 gene namely R122H and N29I cause hereditary pancreatitis. They are autosomal dominant with a high penetrance (80%) reported in North American, North-east Asian, and North European ethnicities. However, the mutations are reportedly absent in Indian, African, and South American ethnicities. We report here for the first time a family from India that is positive for R122H mutation in the PRSS1 gene. The proband is symptomatic with chronic pancreatitis, however, the father although heterozygous for R122H is asymptomatic. 相似文献
34.
C. Pircher S. Schneeberger C. Boesmueller A. Agaimy H. Zoller R. Bale B. Henninger G. Mayer H. Neuwirt 《Transplant infectious disease》2018,20(3)
A 27‐year old caucasian male was diagnosed 2.7 years after kidney transplantation with Epstein‐Barr virus (EBV)‐associated smooth muscle tumors in liver and spleen. The reduction in immunosuppression and conversion from tacrolimus to sirolimus did not lead to a regression of the tumors. Additionally, the patient developed a cellular rejection of his renal allograft, which was successfully treated. A combined approach with stereotactic radiofrequency ablation (SRFA) and surgical resection was effective in the treatment of the tumors. 相似文献
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Sophie Witter Nouria Brikci Tim Harris Richard Williams Sarah Keen Ana Mujica Alex Jones Alex Murray‐Zmijewski Barbara Bale Bailah Leigh Ade Renner 《The International journal of health planning and management》2018,33(2):434-448
This article presents the findings of a theory‐based evaluation of the Sierra Leone Free Health Care Initiative (FHCI), using mixed methods. Analytical approaches included time‐series analysis of national survey data to examine mortality and morbidity trends, as well as modelling of impact using the Lives Saved Tool and expenditure trend analysis. We find that the FHCI responded to a clear need in Sierra Leone, was well designed to bring about needed changes in the health system to deliver services to the target beneficiaries, and did indeed bring funds and momentum to produce important systemic reforms. However, its ambition was also a risk, and weaknesses in implementation have been evident in a number of core areas, such as drugs supply. We conclude that the FHCI was one important factor contributing to improvements in coverage and equity of coverage of essential services for mothers and children. Modelled cost‐effectiveness is high—in the region of US$ 420 to US$ 444 per life year saved. The findings suggest that even—or perhaps especially—in a weak health system, a reform‐like fee removal, if tackled in a systematic way, can bring about important health system gains that benefit vulnerable groups in particular. 相似文献
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A 15-year-old girl with a limp and weakness and wasting of the left leg, was found to have a large chondromyxoid fibroma of
the sacrum. The lesion presented difficulties in diagnosis because of its unusual site, neurological presentation, large size
and extensive extension into the soft tissues of the pelvis and buttock. 相似文献
39.
Balanitis xerotica obliterans in children 总被引:1,自引:0,他引:1
Balanitis xerotica obliterans was studied in 48 fully developed and 6 early cases in children aged 2-15 years. It occurred in 9% of 100 consecutive circumcisions for all, including religious, reasons and in 19% of 232 other circumcisions for disease of the prepuce and penis. Seven cases developed after surgery for hypospadias. The boys nearly always presented with inability to retract the prepuce; half also had discomfort after micturition, and a quarter had obstructive signs, usually minor. At surgery, half had involvement of glans or meatus, previously considered rare in childhood, 3 requiring meatotomy. The condition, once seen, was easily recognized clinically as well as microscopically. The early cases, characterized by focal narrow hyaline edematous zones in severe diffuse chronic balanitis, suggest that the condition may be an inflammation in which the usual increased permeability of small vessels in inflammatory reaction is accentuated in a loose vascular region. 相似文献
40.
Johannes Burtscher R Bale A Dessl W Eisner K Twerdy R A Sweeney S Felber 《Minimally invasive neurosurgery》2002,45(1):24-31
To evaluate the usefulness of virtual endoscopy (VE) in planning neuroendoscopic intraventricular surgeries, the technique was applied in 20 of 22 consecutive procedures. Thirteen endoscopic third ventriculostomies (ETV) in 12 patients, 3 endoscopic colloid cyst removals, 1 third ventricular arachnoidal cyst fenestration, 1 endoscopic ventricul-cysto-cisternostomy (suprasellar arachnoidal cyst), 1 endoscopic tumor biopsy, one third ventricular gross total tumor removal and 2 septostomies at the foramen of Monro due the septal occlusion were performed. Contrast medium-enhanced MR images (3DMPRAGE, Siemens, Germany) were semi-automatically segmented with a surface-rendering technique ("Navigator" software, General Electric Medical, Buc, France) to produce the virtual endoluminal views. Surgery was performed with cerebral ventriculoscopes by Wolf (Richard Wolf, Knittlingen, Germany). VE was feasible in all patients and the virtual endoscopic images were comparable with the real intraventricular views obtained by standard rod lens systems. After contrast medium administration intra- and paraventricular vessels such as the thalamocaudate vein, the septal veins, the basilar artery and its branches (distal BA complex) and the choroid plexus were identified on the virtual endoscopic images. In 8 patients, the additional anatomic information provided by VE profoundly influenced surgical planning. VE provides the neurosurgeon with additional morphological information supporting the planning process of neuroendoscopic intraventricular surgeries, contributing to the safety of the procedures. 相似文献