Search

© 2022 Elsevier B.V.Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement. Methods: We retrospectively collected clinical information and molecular diagnosis data of 22 patients with Joubert syndrome from multiple facilities. Clinical exome or whole-exome sequencing were performed to identify causal variations in genes. Results: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber\"s congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephronophthisis as kidney involvement was encountered in our patients. The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients. A mild phenotype with hypophyseal hormone deficiencies without the classical molar tooth sign was observed with compound heterozygous and likely pathogenic variants not reported before in the KATNIP gene. Conclusion: Some rare variants that display prominent genetic heterogeneity with variable severity are first reported in our patients. In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients.

Background/aim Epidural fibrosis (EF) is a common cause of failed back surgery syndrome seen after spinal surgeries. The most frequent reason for the formation of EF is accumulated blood and its products in the operation zone. On the development of EF, the effect of bipolar coagulation and fibrillar oxidized cellulose, which are used frequently to control bleeding, was investigated. Materials and methods In the study, 45 male Sprague Dawley rats were divided into three groups (control, fibrillar, and bipolar). Lumbar laminectomy was applied to all rats under sterile conditions. In the control group, the epidural area was washed with saline solution. Bleeding was controlled with fibrillar oxidized cellulose in the fibrillar group, with bipolar coagulation in the bipolar group. The area to which laminectomy had been applied was removed as a block 6 weeks later and evaluated histopathologically and genetically in terms of EF development. Fibrosis degree was determined histopathologically by counting fibroblasts using the modified Lubina and EF He grading systems. Interleukin-6 (IL-6), transforming growth factor beta-1 (TGFβ-1), and mRNA levels were measured by the droplet digital polymerase chain reaction method. Results The number of epidural fibroblasts, percentage of modified Lubina, amount of IL-6, and He grading rates were significantly lower in the fibrillar group than in the bipolar and control groups (p ˂ 0.05). On the other hand, there was no significant difference among the control, fibrillar, and bipolar groups in terms of TGFβ-1 values (p= 0.525). Conclusion The use of fibrillar oxidized cellulose was more effective for hemostasis than bipolar coagulation in reducing the development of EF.

Objective: Our aim is to evaluate how many patients with neuromuscular manifestations get a definite diagnosis and which methods are used in the pathway to diagnosis as well as to assess patient characteristics.Methods: Patients aged 0-18 years old with neuromuscular manifestations (e.g., weakness, hypotonia, creative kinase elevation) who were admitted to Okmeydani Training and Research Hospital between January 2017 and July 2019 were included. Retrospectively, patient demographics, clinical signs, laboratory tests, diagnoses, clinical follow-up were recorded.Results: Forty-five patients aged 67.8 +/- 59.6 months were included in the study. Thirteen (29%) patients were female, and 32 (71%) were male. Creatine kinase levels were increased in 26 (58%) patients (median: 3211 IU/L). Twenty-four patients underwent electromyography; seven patients had neuropathy and nine patients muscular pathologies. Three (0.07%) patients underwent muscle biopsy and had nonspecific myopathic changes. Twenty-six (58%) patients out of 45 had a definite diagnosis, and 21 of these diagnoses were genetically confirmed. Seven patients had been subjected to next generation sequencing, and five of these were diagnosed with dystrophinopathy, hypokalemic periodic paralysis, mental retardation autosomal dominant type 9, Ullrich muscular dystrophy, and calpainopathy. Altogether, the most common diagnoses were dystrophinopathy, spinal muscular atrophy, and chronic inflammatory demyelinating polyneuropathy.Conclusion: After a patient history is taken, a physical examination is conducted, and serum creotine kinase levels are measured, establishment of diagnosis is possible through targeted genetic tests for diseases like dystrophinopathy. However, for patients who cannot be diagnosed with this approach, neuromuscular panels and whole exome sequencing can provide a diagnosis. Amaç: Bu çalışmada amacımız, nöromüsküler hastalıkları düşündüren semptom ve bulgularla başvurançocuk hastaların ne kadarının kesin tanı aldığının, bu hastalarda hangi yöntemler ile tanıya ulaşıldığının vehasta özelliklerinin değerlendirilmesidir.Yöntem: Okmeydanı Eğitim ve Araştırma Hastanesi Çocuk Nöroloji Polikliniği’ne Ocak 2017-Temmuz 2019tarihleri arasında nöromüsküler belirtilerle (örn: güçsüzlük, hipotoni, kreatin kinaz yüksekliği) başvuran0-18 yaş arası hastalar değerlendirmeye alındı. Retrospektif olarak hastaların demografik verileri, klinikbulguları, laboratuvar testleri, tanıları, izlemleri kayıt altına alındı.Bulgular: Çalışmaya dahil edilen 45 hastanın yaş ortalaması 67,8±59,6 ay idi. On üç (%29)’ü kız, 32(%71)’si erkekti. Kreatin kinaz seviyeleri 26 (%61) hastada yüksekti ve medyanı 3211 IU/L idi. Elektromiyografiyapılan 24 hastadan yedisinde nöropati, dokuz hastada kasa ait patolojiler saptandı. Kas biyopsisi yapılanüç (%0,07) hastada non spesifik miyopatik değişiklikler izlendi. Kırkbeş hastadan 26 (%58)’sına kesin tanıkonulabildi, bunlardan 21 (%47)’inin tanısı genetik olarak kesinleştirildi. Yedi hastada yeni nesil dizilemeanalizi uygulandı ve beşi distrofinopati, hipokalemik periyodik paralizi, otozomal dominant mental retardasyon tip 9, Ullrich müsküler distrofi, calpainopati tanılarını aldı. Tüm hastalarda en sık tanılar distrofinopati, spinal müsküler atrofi ve kronik inflamatuvar demiyelinizan polinöropatiydi.Sonuç: Öykü, fizik muayene ve serum kreatin kinaz seviyesi sonrasında, örneğin distrofinopati gibi bir gruphastalıkta hedefe yönelik genetik testler ile tanıya ulaşılabilir. Ancak bu şekilde tanıya ulaşılamayan hastalarda nöromüsküler hastalık panelleri ve tüm ekzom dizileme gibi ileri moleküler genetik incelemeleretkili bir şekilde tanıya ulaşmayı sağlayabilir.

More than 12,000 hemoglobin (Hb) variants have been identified and listed on the HbVar database. Reliable detection of these Hb variants is important for planning hemoglobinopathy screening and genetic counseling. Presumptive diagnosis is usually dependent on dedicated Hb analyzers, e.g. high-performance liquid chromatography (HPLC) or capillary electrophoresis (CE) systems specifically developed for Hb fraction separation and quantification. In most cases, simple Hb variants can be easily identified. Rarely, a novel Hb molecule formed by the assembly of different defective globin chains could complicate clinical and laboratory diagnostics and requires DNA testing

Objective of this study is to investigate the changes of whole genom gene expression levels in rat brain induced by 2,4 GHz Wireless Fidelity Radiofrequency Electromagnetic Field (WiFi RF-EMF). Total RNA was extracted immediately and purified from the rat brain, after 12 hours/day exposed or sham-exposed to a frequency of 2,4 GHz WiFi RF-EMF for 14 days. Roche-Nimblegene-Agilent Microarray System was applied to investigate the changes of gene expression in rat brain. Roche-Nimblegene-Agilent Genespring Software for Microarray Analysis was used in bioenformatic analysis. After 14 days of WiFi RF-EMF exposure, 69 genes in experimental group showed statistical significant down regulation compared with the control group. Ten genes in experimental group showed statistical significant up regulation compared with the control group. In this study, it was detected that WiFi RF-EMF exposure to brain cells resulted with the down and up regulation of transcription level of some important genes. © 2018, Anka Publishers. All rights reserved., T-678, This work was supported by Cumhuriyet University BAP Fund with the Project Number T-678.