A Saudi Patient with an Interstitial Deletion of Short Arm of Chromosome 3 (p13 to p21) and its Association with Joubert's Syndrome Features.

We report a case of 4 weeks old girl with a de novo interstitial deletion of the short arm of chromosome 3 (p13-p21) and clinical findings typical of proximal 3p deletion together with heart defects, choanal atresia, ear anomalies, central nervous system anomalies, renal anomalies and associated Joubert's syndrome (JS). Family history is unremarkable and parenteral chromosomes were normal. The clinical manifestations of the patient are compared with those of 11 patients previously described with a proximal 3p deletion. The additional JS features associated with this syndrome were described. This is the first case report in English literature describing 3p deletion associated with additional JS features.

Oral Nystatin Versus Intravenous Fluconazole as Neonatal Antifungal Prophylaxis: Non-inferiority Trial.

BACKGROUND: Fluconazole has shown to be effective in reducing both colonization and invasive Candida infection (ICI) in ELBW neonates; we conducted a randomized trial to compare oral nystatin with intravenous fluconazole for prophylaxis against invasive Candidiasis in high risk neonates. MATERIALS AND METHODS: By using SPSS, preterm less than 30 weeks gestation and/or birth weight 1200 grams or less assigned to receive either intravenous Fluconazole (6 mg/kg q72 hr for 1(st) week then q48 h for 6 wks) or oral Nystatin (100,000 unit q8 hr for 6 wks). The medications commenced at one week of age after obtaining the base line investigations and check for Candida colonization by urine culture and rectal swab; subsequently all lab work and the clinical data were monitered regularly. Risk factors were assessed. The data collected prospectively looking for primary end point the invasive Candida infection (ICI) and 2 ndry outcomes include medication safety, tolerance and cost. RESULTS: 65 neonate randomly assigned however only 57 neonates comleted the study 33/57 (57%) to intravenous fluconazole group and 24/57 (42%) to oral nystatin group. No differences in birth weights Nystatin (1.15 Kg) Fluconazole (1.01 Kg), gender males (26/57), female (32/57), Gestational age (29.28 vs l28.22) or risk factors between the two groups. Rectal swab Colonization occurred in 2/24 (8%) in Nystatin group and 4/33 (12%) in the Fluconazole group, but none of the neonates developed ICI or side effects, although in the Fluconazole group transient transaminase elevation 2SD standard deviation above the mean was observed. Central line duration was 2 SD above the mean for fluconazole group, The cost of the Fluconazole treated group (7,581 SAR) 106.4 US/pt double the cost of Nystatin treated group (3,375 SAR) 50 US/pt. CONCLUSION: Intravenous Fluconazole and oral Nystatin at the prophylactic doses are equally effective and safe in preventing (ICI) in preterm neonates, however oral Nystatin is readily available, easily administered with lower cost per neonate.

Congenital Neurofibromatosis in a Saudi Neonate who Presented with Neck Mass, Esophageal and Airway Obstruction.

We are presenting a case of a neonate presented with a neck mass, airway and esophageal obstruction, the tumor has a brain extension; treated with partial surgical excision; the pathological studies revealed plexiform Neurofibromatosis. The patient also has café au lait spots.

Nutritional assessment and hepatic fatty acid composition in non-alcoholic fatty liver disease (NAFLD): a cross-sectional study.

BACKGROUND/AIMS: Low hepatic n-6 and n-3 polyunsaturated fatty acid (PUFA) may contribute to steatosis and steatohepatitis and can be affected by diet and oxidative stress. METHODS: Seventy-three patients referred for elevated liver enzymes and suspected NAFLD were assessed. Nutritional assessment, hepatic FA composition and oxidative stress were compared between these groups: simple steatosis (SS, n=18), steatohepatitis (NASH, n=38) and minimal findings on liver biopsy (MF, n=17). RESULTS: Patients with NASH had higher: BMI, central obesity, body fat, insulin resistance, dyslipidemia and lower physical activity compared to the other groups. They also had relatively lower hepatic n-3 and n-6 PUFA, a decrease in the ratio of metabolites to essential FA precursors for both n-6 and n-3 FA (eicosapentaenoic+docosahexaenoic/linolenic and arachidonic/linoleic acid ratios) and higher liver lipid peroxides with lower antioxidant power, when compared to MF. Overall, there was no significant difference between SS and NASH in FA composition. Self-reported dietary intake and red blood cell FA composition were similar among the three groups. CONCLUSIONS: NASH patients have more metabolic abnormalities. This is associated with higher oxidative stress and lower n-3 and n-6 PUFA in the liver in the absence of any differences in dietary FA composition.

HIV-positive patients with nonalcoholic fatty liver disease have a lower body mass index and are more physically active than HIV-negative patients.

OBJECTIVE: To determine whether the clinical and metabolic features associated with nonalcoholic fatty liver disease (NAFLD) are similar between HIV-positive and HIV-negative male subjects. METHODS: Twenty-six HIV-positive and 25 HIV-negative subjects with liver biopsy-proven NAFLD were compared for liver histology (extent of steatosis, steatosis grading, and fibrosis staging), blood biochemistry (glucose, insulin, C-peptide, hemoglobin A1c, and lipid profile), insulin resistance (IR) using a homeostasis model assessment, anthropometry (body mass index [BMI], waist circumference, and arm muscle area), dietary intake, and physical activity. RESULTS: The 2 groups were similar for age, liver histology, and IR. HIV-positive patients had a lower BMI (26.3 +/- 0.5 vs. 30.2 +/- 1.0 kg/m; P = 0.001) and lower percentage of fat mass (19.4 +/- 0.9 vs. 22.7 +/- 1.2; P = 0.026) when compared with HIV-negative patients. Although caloric intake was similar between groups, HIV-positive patients had a higher physical activity level (8.3 +/- 1.6 vs. 4.1 +/- 0.8 units of exercise per day; P = 0.029). Blood triglycerides were significantly higher (3.14 +/- 0.39 vs. 1.86 +/- 0.20 mmol/L; P = 0.006) in HIV-positive patients. CONCLUSION: Although NAFLD was similar between the 2 groups, HIV-positive patients had a lower BMI and were more physically active compared with HIV-negative patients. This may suggest that in HIV, NAFLD is associated with factors other than those related to body fatness, such as HIV infection and treatment.