The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients.

Objective: Whole exome sequencing (WES) is a new molecular diagnostic test, used in pediatric medicine, especially pediatric neurology. The diagnostic yield of WES is higher than conventional methods. Therefore, this study aimed to assess the diagnostic yield of WES in a pediatric neurology clinic and to report positive results. Materials & Methods: This retrospective study was performed on patients, presenting to the pediatric neurology clinic of Ghaem Hospital in Mashhad, Iran, between March 2015 and March 2017, with various neurological disabilities and unrevealing workup before WES. The patients' clinical features and molecular diagnoses based on the WES results were reported in this study. Results: The overall diagnostic yield of WES was 82.71% (67/81 patients). Two patients were excluded for the lack of data. Sixty-five patients with pathogenic or possibly pathogenic variants exhibited various abnormalities, including intellectual disability/developmental delay (n=44), seizure (n=27), developmental regression (n=11), myopathy (n=9), microcephaly (n=8), neuropathy (n=2), autism spectrum disorder (n=2), and neuromuscular disease (n=2). Overall, 93.84% of the patients were born to consanguineous parents. Also, 62 patients had an autosomal recessive disorder, and three patients had an autosomal dominant disorder. Conclusion: The present findings indicating the high diagnostic yield of WES, besides the important role of this test in determining the etiology of non-specific and atypical presentations of genetic disorders, support the use of WES in pediatric neurology practice.

Albendazole therapy in human lung and liver hydatid cysts: A 13-year experience.

BACKGROUND: Cystic echinococcosis (CE) is an endemic disease in Iran. This study has aimed to report the efficacy of Albendazole therapy in patients with CE. METHOD: Among 164 patients with echinococcosis who were referred to the surgery clinic, Ghaem hospital, Mashhad University of Medical Sciences between 2001 and 2013, two were diagnosed with alveolar echinococcosis (AE) and 162 with CE; 43 of whom underwent surgery. The rest 119 patients received medical therapy by Albendazole 15 mg/kg/day for three phases. Each phase included 6 weeks of Albendazole therapy followed by 2 weeks of no medication. The patients were classified according to radiologic evaluations into four groups: (1) cured, (2) improved, (3) unchanged, and (4) worsened or relapsed. RESULTS: Patients who completed more phases had significantly greater chances of better response. Of the 56 patients who completed all three phases, 37 (66.1%) were cured, 15 (26.8%) improved, 4 (7.1%) remained unchanged, and none worsened or relapsed. [Odds ratio (OR):4.78, 95% confidence interval (CI): 2.95-7.74, P < .0001]. CONCLUSION: Albendazole can be beneficial for inoperable, multiple cysts, and multiple organs CE patients.