The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS

Background: Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years of life. In so far as GA-1 desperately does not exist in Turkish newborn screening (NBS) program, most patients in our study were late-diagnosed. / Method: This study included 41 patients diagnosed with acylcarnitine profile, urinary organic acids, mutation analyses in the symptomatic period. We presented with clinical, neuroradiological, and molecular data of our 41 patients. / Results: The mean age at diagnosis was 14.8 13.9 (15 days to 72 months) and, high blood glutaconic acid, glutarylcarnitine and urinary glutaric acid (GA) levels in 41 patients were revealed. Seventeen different mutations in the glutaryl-CoA dehydrogenase gene were identified, five of which were novel. The patients, most of whom were late-diagnosed, had a poor neurological outcome. Treatment strategies made a little improvement in dystonia and the frequency of encephalopathic attacks. / Conclusion: All GA-1 patients in our study were severely affected since they were latediagnosed, while others show that GA-1 is a treatable metabolic disorder if it is diagnosed with NBS. This study provides an essential perspective of the severe impact on GA-1 patients unless it is diagnosed with NBS. We immediately advocate GA-1 to be included in the Turkish NBS

Global wave loads on a damaged ship

A computational tool was applied based on a two dimensional linear method to predict the hydrodynamic loads for damaged ships. Experimental tests on a ship model have also been carried out to predict the hydrodynamic loads in various design conditions. The results of the theoretical method and experimental tests are compared to validate the theoretical method. The extreme wave induced loads have been calculated by short term prediction. For the loads in intact condition, the prediction with duration of 20 years at sea state 5 is used, while for loads in damaged conditions the prediction in 96 hours exposure time at sea 3 is used. The maximum values of the most probable extreme amplitudes of dynamic wave induced loads in damaged conditions are much less than those in intact condition because of the reduced time. An opening could change the distribution of not only stillwater bending moment but also wave-induced bending moment. It is observed that although some cross sections are not structurally damaged, the total loads acting on these cross sections after damage may be increased dramatically compared to the original design load in intact condition

Posterior reversible encephalopathy syndrome in a child with cyclical vomiting and hypertension: a case report

<p>Abstract</p> <p>Introduction</p> <p>Posterior reversible encephalopathy syndrome is characterized by headache, nausea and vomiting, seizures and visual disturbances. It has certain characteristic radiological features, which allow diagnosis in the appropriate clinical setting and enable appropriate clinical therapy to be instituted.</p> <p>Case presentation</p> <p>A 10-year-old Caucasian girl who was hospitalized due to recurrent vomiting was diagnosed as having posterior reversible encephalopathy syndrome after an initial diagnosis of cyclical vomiting and hypertension was made.</p> <p>Conclusion</p> <p>Posterior reversible encephalopathy syndrome is a rare disorder in children. Early recognition of characteristic radiological features is key to the diagnosis as clinical symptoms may be non-specific or mimic other neurological illnesses. To the best of our knowledge this is the first case to report an association between posterior reversible encephalopathy syndrome, cyclical vomiting and hypertension. Furthermore, in this case, the resolution of the abnormalities found on magnetic resonance imaging over time did not appear to equate with clinical recovery.</p

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome wide siRNA screen to identify genes regulating ciliogenesis as candidates for JS. We analyzed results with a supervised learning approach, using SYSCILIA gold standard, Cildb3.0, a centriole siRNA screen and the GTex project, identifying 591 likely candidates. Intersection of this data with whole exome results from 145 individuals with unexplained JS identified six families with predominantly compound heterozygous mutations in KIAA0586. A c.428del base deletion in 0.1% of the general population was found in trans with a second mutation in an additional set of 9 of 163 unexplained JS patients. KIAA0586 is an orthologue of chick Talpid3, required for ciliogenesis and sonic hedgehog signaling. Our results uncover a relatively high frequency cause for JS and contribute a list of candidates for future gene discoveries in ciliopathies

Hashimoto's encephalopathy: An unusual cause of seizures [Epileptik nöbetin nadir bir nedeni olan hashimoto ensefalopatisi olgusu]

Hashimoto's encephalopathy is a rare, chronic relapsing and remitting encephalopathy associated with auto-antibodies against thyroid components. Clinically it is characterized by tremor, myoclonus, stroke-like episodes, seizures, impairment of consciousness, and dementia. We described here a 13-year-old boy who presented with generalized tonic clonic seizures associated with Hashimoto's encephalopathy. After corticosteroid treatment, his neurological features improved dramatically. As a result, Hashimoto's encephalopathy should be considered in cases of unexplained encephalopathy and seizures in pediatric patients

Guillain-Barre syndrome associated with hepatitis B vaccination: Letter to the editor

[No abstract available

A patient with left hemiparesis, seizure, and development delay on admission

[No abstract available

Unusual side effects due to clobazam: a case report with edema of the extremities

PubMedID: 29524094[No abstract available