3 research outputs found
CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings
Purpose: We report a rare case of CRB1 gene mutation in two siblings (sisters) affected with the exact same genetic mutation on both CRB1 genes resulting in varying phenotypes.
Case Report: CRB1 gene mutation in this case has resulted in causing varying degrees of Leber congenital amaurosis (LCA) in both sisters with a more severe phenotype in the older sibling causing LCA-8 with retinitis pigmentosa spectrum in both eyes and a milder phenotype causing LCA-8 with less severe rod cone dystrophy in the younger sister.
Conclusion: In summary, the mechanisms of varying phenotypes resulting from CRB1 genetic mutation are still not well understood. We concluded that the presence of different phenotypes associated with identical genotypic mutation of a single gene in siblings or in a family is important especially when dealing with retinal dystrophies
Ameloblastoma : Management and outcome
Introduction Ameloblastoma is a locally destructive tumor with a propensity for recurrence if not entirely excised. Management of ameloblastoma poses a challenge for all involved in the field of head and neck surgery because successful treatment requires not only adequate resection but also a functional and aesthetically acceptable reconstruction of the residual defect. Methods Patients who had histologically proven ameloblastoma between 1991 and 2009 were identified from the database of Aga Khan University Hospital. A review of all medical records, radiological images, operative reports and pathology reports was undertaken. Results A total of 15 patients with histologically confirmed ameloblastoma were identified. Out of 15 patients nine were males and six were females with age range from 20 to 60 years (mean age 43 years). The most common symptom found in our patient group was painless facial swelling. In 13 patients the origin of tumor was mandible and in the remaining two the tumor originated from maxilla. Eleven out of 15 patients underwent segmental mandibulectomy, two had maxillectomy and two had enucleation. All patients who underwent segmental mandibulectomy required reconstruction. Reconstruction was done with microsurgical free tissue transfer in eight patients, non-vascularized iliac crest bone graft was used in one patient and two had plating only. All free flaps survived with no evidence of flap loss. The mean follow-up was eight years. There was no evidence of graft failure which was used in one patient. Complication was seen in only one of our patients in the form of plate exposure. Recurrence was seen in two of our cases who primarily underwent enucleation. All patients had satisfactory speech, cosmesis and mastication. Conclusion The management of ameloblastoma still poses a big challenge in spite of being the most common odontogenic tumor. In our study we have found that segmental mandibulectomy with disease-free margin of around 1 cm and immediate reconstruction with free tissue transfer have shown good results
Outbreak of dengue fever in Karachi 2006: a clinical perspective
OBJECTIVE: This study reports clinical manifestations and spectrum of severity of dengue fever (DF), dengue haemorrhagic fever (DHF) and dengue shock syndrome (DSS) in adult patients admitted during 2006 outbreak in Karachi. A rough estimation of cost of care was also calculated.
METHODS: A cross-sectional study was done at a tertiary care hospital in Karachi from January to December 2006. Patients suspected of having DF with positive dengue IgM antibodies were included and records were reviewed. Patients were divided into DF, DHF and DSS as per WHO classification, and the severity of clinical manifestations was determined.
RESULTS: A total of 278 (65.72%) of 423 patients admitted with suspected dengue illness had positive IgM titer. Mean age was 31 +/- 12.9 years, with 168 (60%) males and 110 (40%) females. Common presenting symptoms were fever (100%), vomiting (78%), epigastric pain (52%), bleeding tendencies (34%), and erythematous rash (33%). Thrombocytopenia (60%), Leucopenia (45%), elevated transaminases (ALT 71%; AST 88%), and deranged PT (22%) and aPTT (75%) were the predominant. Laboratory parameters: DF was diagnosed in 169 (61%) patients, 82 (29%) were classified as DHF, and 27 (10%) as DSS. Patients with DHF/DSS were younger (n=60, 55%) and had longer hospital stay (p=0.001). Case fatality rate for DHF/DSS group was 4.6%.
CONCLUSION: It was estimated that endemicity of DF is on the rise in Karachi and a significant proportion of patients had DHF and DSS. Younger patients develop DHF and DSS and have high case fatality rate