Inherited paediatric neurometabolic disorders, can brain magnetic resonance imaging predict?

OBJECTIVE: To evaluate diagnostic capability of brain magnetic resonance imaging (MRI) in detection of inherited neurometabolic disorders. METHODS: This retrospective observational study was performed in Radiology Department at our Hospital in Dhahran, from January 2013 to January 2020. We evaluated brain MRIs of children (under 5) who were referred to pediatric neurology for clinical suspicion of neuro-developmental delay and metabolic disease. Known perinatal ischemia and birth trauma cases were excluded. Imaging criteria included: (i) bilateral symmetric white matter signal abnormality, (ii) diffusion restriction affecting bilateral deep grey nuclei with or without brainstem involvement, (iii) brain atrophy or edema with abnormal white matter signal, (iv) characteristic MR spectroscopic finding. Presence of any one of these findings was considered positive for neurometabolic disease. Two neuroradiologists interpreted MRIs with substantial interobserver agreement. Diagnoses were confirmed on biochemical/ metabolic screening and genetic testing. A 2 x 2 contingency table was used for results. Chi square test was used to determine association. RESULTS: Out of 133 cases, 72 (49 males, 90% AR) were found to have neurometabolic disorders. Sensitivity, specificity, positive and negative predictive values were calculated as 81.94% (CI, 71.11-90.02), 67.21% (CI, 54.00-78.69), 74.68% (CI, 66.96-81.11) and 75.93% (CI, 65.16-84.17) respectively. Findings were found significant (p-value=0.0001). CONCLUSION: Brain MRI can help to predict inherited neurometabolic disorders considering certain findings.

Upper Egypt experience in bladder preservation using concurrent chemoradiotherapy.

OBJECTIVE: To share our experience in bladder preservation in Upper Egypt, Assiut and Sohag Universities, using different treatment protocols. In Sohag study patients with operable muscle invasive bladder cancer were included and underwent transurethral resection followed by radiochemotherapy (5- fluorouracil and Cisplatin) for bladder preservation. In Assiut study after maximum safe resection of bladder tumor, patients received combined chemo-radiotherapy, 60 Gy of fractionated radiotherapy over 6 weeks, with Cisplatin and Gemcitabine. RESULTS: In Sohag study the age of patients ranged from 35-72ys with Median 56 years, 24 patients were male (80%) and 6 patients were female (20%). In Assiut study the mean of age was 57.30 years, median 58.5 years with peak incidence in 7th decade (9 cases) then in 6th decade 7 cases (23.33%). Performance status was represented as following, 23 patients (76.6%) were scale 1 and seven patients (23.3%) were scale 2. In Assiut study, 90% of patients were disease free at the time of cystoscopic reevaluation. Of concern is that within 18 months of follow up in Assiut study, 7 of 27 (74%) complete responding patients have had local recurrence and 66.7% of all cases. The recurrence free survival in Sohag study at the median follow up (17 months) was 84% and at the end of follow up (30 months) was 70%. The overall survival at the median follow up was 95%, and at the end of follow up was 84%. The disease free survival in Assiut study was 66.7% and the overall Survival in Assiut study was 76.7. CONCLUSION: Three significant prognostic factors were detected for overall survival, performance status, tumor size and residual of tumor and two significant prognostic factors were detected for disease free survival, tumor size and residual of tumor in Assiut study. And it was nearly similar to that reported by Sohag study as they found the completeness of TUR and early stage of the tumor had the strongest impact in response to treatment.

Concurrent radiotherapy and chemotherapy for locally advanced squamous cell carcinoma of the head and neck.

BACKGROUND: Concurrent chemoradiation is the standard treatment for patients with advanced head and neck squamous cell carcinoma (HNSCC).The present study was carried out to assess the feasibility and efficacy of low-dose gemcitabine as a radiosensitizer when used during radical therapeutic management of patients with locally advanced HNSCC. PATIENTS AND METHODS: Fifty-two patients with locally advanced HNSCC (stage III, 50%; stage IVa, 50%) were enrolled during the period from July 2008 to December 2010. All received a course of radiotherapy (70 Gy over 7 weeks) concurrent with weekly infusions of gemcitabine at 50 mg/m(2). RESULTS: All patients were available for toxicity and response. Severe mucositis (grade 3-4) was observed in 76% of patients. Severe hematological toxicity was uncommon. Xerostomia was the most common late toxicity in 34 patients (65.4%). The rate of complete and partial response rate was 67.3% and 21.1%, respectively, with an overall response rate of 88.45%. Two years progression-free survival and disease-free survival were 46% and 38.46%, respectively. CONCLUSION: Using low-dose gemcitabine concurrent with radiotherapy maintains high response rate with low systemic toxicity, in spite of severe mucositis in a high percentage of patients.