ObjectiveLumbar puncture (LP) is a useful procedure which is performed for both diagnosis and treatment of numerous conditions affecting children and adults. The purpose of this study was to determine the frequency and cause of increased parental refusal to perform LP in the pediatric population.MethodA cross-sectional study was conducted from January 2018 to June 2019 at the Civil Hospital, Dow University of Health Sciences, pediatric department, Civil Hospital, Karachi. Over the 18-month time period, a total of 215 patients who had indications of LP were selected from the in-patient pediatrics department; the age range was between newborn to 12 years of age. The mode of research was a questionnaire and interview-based method that was conducted with guardians of minor patients to understand the extent of their knowledge and awareness about the LP procedure as well as its complication and the role of culture, education background, and financial status of the families which may lead to an increased likelihood of refusal.ResultThe frequency of LP refusal amongst the 215 families of the patients that were interviewed was found to be 32.6%. Mean age of the respondents was 30.98 years. The decision for LP was not significantly affected by the subjects’ gender (p=0.1), by the religious communities to which the families belonged (p=0.9), their ethnicities (0.52), or by the families’ financial status (p=0.4). It was observed that when indications for performing LP were appropriately explained, there was a significantly greater number of consents given as compared to when they were not made clear (p=0.009). Explaining the complications of the procedure did not considerably impact the decision for refusal of the procedure (p=0.1). The multi-variable logistic regression analysis model was applied to determine the likelihood of variables affecting refusal of LP and the logistic regression model was found to be statistically significant, χ2 (8) = 38.2 p < 0. 001.ConclusionLack of knowledge about the LP procedure and fear of ramification plays a conspicuous role in the denial of LP procedure by the guardians of minor patients. A better, simpler approach using standardized consent forms by the doctors may lead to the removal of the information gaps and can provide a better understanding about the concerned risks, the primary indications, and the benefits of this procedure to the guardians.
Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia in which capillary bed is absent with direct draining of arterial blood into venous circulation. Due to increased pressure there is increased risk of bleeding. The classical triad consists of telangiectasias, epistaxis and a positive family history. This defect can involve any organ system, especially lungs, brain and liver; but hepatic vascular malformations in HHT usually remain silent until fifth or sixth decade of life. However, if symptomatic, it usually results in only mild liver dysfunction in adults. Herein, we report a rare case showing extensive hepatic involvement in HHT leading to hepatic failure at a younger age. Hepatic screening is traditionally not recommended at early age while pulmonary and cerebral screening must be done. Based on this case, we recommend hepatic screening even in a young patient with HHT.
Metaphyseal chondrodysplasia, Schmid type (MDSC) is a rare inherited autosomal disorder with characteristic skeletal deformities striking on radiological imaging, which includes metaphyseal cupping and fraying. Physical examination reveals short stature in early childhood, frontoparietal bossing, rachitic rosary, genu varum and valgum, and coxa vara usually. We believe that the constellation of clinical and radiographic findings of MDSC might look similar to vitamin D resistant rickets; hence, genetic analysis is needed to overcome diagnostic challenges faced by physicians to avoid unnecessary vitamin D supplementation in individuals. We report the first case of MDSC with a coexisting factor VII deficiency in an eightyear-old boy.
Large vein allografts are suitable for MVH reconstruction, but their supply is often limited. PTPF grafts are unlimitedly available with acceptably high mid-term patency rates when being used for MHV reconstruction during LDLT. However, we identified that unwanted PTFE migration into the stomach and other adjacent organs happened in a not negligible proportion as well as a majority of them remained as a foreign body after luminal obliteration with thrombus formation. To replace the use of PTFE graft, we have recently used the cryopreserved aorta homograft more frequently than before. This study intended to present the technical tips and patency outcomes after use of cryopreserved aorta homografts for MHV reconstruction. During the 3-year study period, cryopreserved aorta homograft was used in 30 LDLT recipients. The surgical techniques for MHV reconstruction using cryopreserved aorta homografts and PTFE grafts were very similar because those developed for PTFE grafts was directly applied to cryopreserved aorta grafts. We used arterial patch insertion technique at the liver cut surface because the wall of aorta graft is too thick to perform direct anastomosis. The 6-month patency rate was 92% for aorta and 76% for PTFE graft, showing a significant difference in mid-term patency rates. Overall graft and patient survival rates did not differ according to the MHV interposition vessel materials. In conclusion, cryopreserved aorta grafts combined with small vessel patch showed very high patency rates not comparable to those interposition vessel materials, thus they can be preferentially used for MHV reconstruction when they are available.
Patient characteristics such as demographics, tumor pathology, Next Generation Sequencing (NGS) recommendations, and organoid-derived drug recommendations are shown in the Table. We optimized operational logistics, assessed tumor growth rates, and measured chemosensitivity reporting timelines. All four specimens resulted in adequate growth to characterize drug sensitivities. No NGS studies performed on these tumors resulted in targeted chemotherapy recommendations. Conversely, tumor organoid assays rapidly identified selective, personalized drugs in all four cases. Conclusion: We have shown the feasibility of this approach in CCA. This pilot study has facilitated the expansion process, quantified the turnaround time, and identified technical and logistic barriers for future clinical trials. Our preliminary Results will inform the design of a future prospective clinical trial to establish and validate this method to select personalized cancer treatments for rare malignancies.
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