Ahmet Yaramış

Diyarbakır Askeri Hastanesi

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Identification of mutations in theMYO9Agene in patients with congenital myasthenic syndrome

Brain (2016)

Emily O’Connor Ana Töpf Juliane S. Müller Dan Cox Teresinha Evangelista

Congenital myasthenic syndromes are a group of rare and genetically heterogenous disorders resulting from defects in the structure and function of the neuromuscular junction. Patients with congenital myasthenic syndrome exhibit fatigable muscle weakness with a variety of accompanying phenotypes depending on the protein affected. A cohort of patients with a clinical diagnosis of congenital myasthenic syndrome that lacked a genetic diagnosis underwent whole exome sequencing in order to identify genetic causation. Missense biallelic mutations in the MYO9A gene, encoding an unconventional myosin, were identified in two unrelated families. Depletion of MYO9A in NSC-34 cells revealed a direct effect of MYO9A on neuronal branching and axon guidance. Morpholino-mediated knockdown of the two MYO9A orthologues in zebrafish, myo9aa/ab, demonstrated a requirement for MYO9A in the formation of the neuromuscular junction during development. The morphants displayed shortened and abnormally branched motor axons, lack of movement within the chorion and abnormal swimming in response to tactile stimulation. We therefore conclude that MYO9A deficiency may affect the presynaptic motor axon, manifesting in congenital myasthenic syndrome. These results highlight the involvement of unconventional myosins in motor axon functionality, as well as the need to look outside traditional neuromuscular junction-specific proteins for further congenital myasthenic syndrome candidate genes. Congenital myasthenic syndromes result from defects in the neuromuscular junction. Using whole exome sequencing, O'Connor et al. identify mutations in a novel candidate gene, MYO9A, which encodes an unconventional myosin. They provide preliminary evidence that MYO9A contributes to formation of the neuromuscular junction via effects on the presynaptic motor axon.

Congenital myasthenic syndrome

10.1093/brain/aww130

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Citations (53)

Drowning and Near Drowning in Children in the Southeast of Turkey

Journal of Academic Emergency Medicine (2014)

Mustafa Taşkesen Ayfer Gözü Pirinççioğlu Ahmet Yaramış

Near Drowning

10.5152/jaem.2014.299

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Çocuklarda bakteriyel menenjit tedavisi ve korunması

Ahmet Yaramış Fuat Gürkan Bünyamin Dikici Yusuf Kenan Haspolat Murat Söker

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DISTINGUISHING FEATURES OF SALMONELLA AND VIRAL HEPATITIS

The Pediatric Infectious Disease Journal (2000)

Fuat Gürkan Orhan Derman Ahmet Yaramış Aydın Ece

To The Editors: Typhoid fever is common in the southeast region of our country, and presentation with hepatitis is common. The recognition of Salmonella hepatitis is important because the clinical picture of the disease is frequently indistinguishable from that of viral hepatitis.1–4 To identify the characteristic features of Salmonella hepatitis that may help in early diagnosis, a retrospective analysis of medical records was made of 25 patients with Salmonella hepatitis with positive blood cultures and of 18 patients with acute viral hepatitis hospitalized in Dicle University Hospital, Turkey, between 1996 and 1998. Symptoms and clinical findings, laboratory results, duration of hospitalization and final outcome were evaluated. Patients with acute viral hepatitis had illness severe enough to warrant admission to the hospital, and they had positive serologic markers for either type A (9 patients) or type B (9 patients) hepatitis. The patients' ages were significantly different between the Salmonella and viral hepatitis groups (mean ± sd, 9.7 ± 2.2 vs. 5.9 ± 2.0 years;P < 0.01, respectively). Typhoid hepatitis is uncommon among infants and young children; however, 25% of our patients were younger than 5 years of age. Sex distribution was similar between the two groups (male to female ratio, 2.1 vs. 2.0, respectively). Patients with Salmonella hepatitis developed fever and changes in consciousness more frequently than did those with viral hepatitis (100%vs. 55%, P < 0.01 and 84%vs. 22%, P < 0.01 respectively). A greater proportion of viral hepatitis patients developed clinically detectable jaundice (94%vs. 16%, P < 0.001). Hepatosplenomegaly and relative bradycardia was more frequently seen in patients with Salmonella than viral hepatitis (52%vs. %16, P < 0.05 and 28%vs. 0%, P < 0.05, respectively). Diarrhea (20%vs. 11%, respectively) and constipation (12%vs. 11%, respectively) were not common physical findings in either disease. In the laboratory investigation patients with Salmonella hepatitis had lower peak alanine aminotransferase, aspartate aminotransferase and alkaline phosphatase serum values than did those with viral hepatitis (174 IU/l vs. 1113 IU/l, P < 0.001; 212 IU/l vs. 1182 IU/l, P < 0.001; and 98 IU/l vs. 433 IU/l, P < 0.01, respectively). Peak serum lactate dehydrogenase concentrations were similarly elevated in the Salmonella and viral hepatitis groups (677 IU/l vs. 719 IU/l, respectively). White blood cells were 7480/mm3vs. 11 000/mm3 in the two groups, respectively (P > 0.05). Left shift of white blood cells was more common in Salmonella hepatitis, and anemia was also present in all patients. Thrombocytopenia with platelet count <100 000/mm3 was found in nine patients with Salmonella hepatitis and in only one patient with acute viral hepatitis. The O agglutinin titer of >1:160 was found in 48% of typhoid patients. Patients with Salmonella hepatitis had a longer duration of hospitalization (9.8 vs. 5.8 days, respectively;P < 0.001). Despite long hospitalization the prognosis was good in these patients. All patients responded well to specific antibiotic therapy. In conclusion several clinical and laboratory findings can help the clinician to suspect Salmonella hepatitis. Fever and abnormal liver biochemical tests are commonly found in patients with Salmonella hepatitis, but these patients have lower alanine aminotransferase, aspartate aminotransferase and alkaline phosphatase values than do patients with viral hepatitis. Jaundice is uncommon in Salmonella hepatitis. Patients with high fever and liver abnormalities should undergo blood, urine, stool and/or bone marrow cultures to distinguish Salmonella hepatitis from other causes of acute hepatitis. Fuat Gürkan M.D. Orhan Derman M.D. Ahmet Yaramis M.D. Aydin Ece M.D. Department of Pediatrics Dicle University Medical School Diyarbakir, Turkey Accepted for publication March 20, 2000.

Viral Hepatitis

Hepatitis B

Hepatitis C

10.1097/00006454-200006000-00029

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Citations (5)

Brainstem involvement in subacute sclerosing panencephalitis.

PubMed (2011)

Ahmet Yaramış Mustafa Taşkesen

Subacute sclerosing panencephalitis (SSPE), which usually develops 2-10 years after measles infection, is a progressive neurologic disorder with an insidious onset. The neurologic dysfunctions associated with SSPE include generalized myoclonic jerks and seizure activity, and progression of the disease usually results in coma and death within one to two years after onset. Most of the cerebral lesions in SSPE are observed in the periventricular and subcortical white matter. Brainstem involvement in SSPE is very rare. In this paper, we report two cases with brainstem involvement in SSPE that was accompanied by other intracranial lesions with magnetic resonance imaging (MRI). These two patients died in a short time. Thus, brainstem involvement should be considered in patients with SSPE.

Subacute sclerosing panencephalitis

Myoclonic Jerk

Coma (optics)

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Citations (8)

Pyridoxine Dependent Early Epileptic Encephalopathy in a Newborn: Case Report

Turkiye Klinikleri Journal of Pediatrics (2012)

Mustafa Taşkesen Ahmet Yaramış Ayfer Gözü Pirinççioğlu Celal Devecioğlu

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The Epidemiology of Subacute Sclerosan Panencephalitis in Children

DOAJ (DOAJ: Directory of Open Access Journals) (2004)

Ahmet İrdem Sultan Ecer M. Nuri Özbek Ahmet Yaramış Celal Devecioğlu

Subacute sclerosing panencephalitis

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Severe neurodevelopmental disease caused by a homozygous TLK2 variant

European Journal of Human Genetics (2019)

Ana Töpf Yavuz Oktay B. Sunitha Elmasnur Yilmaz Ece Sönmezler

Abstract A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All cases reported carried either truncating variants located throughout the gene, or missense changes principally located at the C-terminal end of the protein mostly resulting in haploinsufficiency of TLK2 . Through whole exome sequencing, we identified a homozygous missense variant in TLK2 in a patient showing more severe symptoms than those previously described, including cerebellar vermis hypoplasia and West syndrome. Both parents are heterozygous for the variant and clinically unaffected highlighting that recessive variants in TLK2 can also be disease causing and may act through a different pathomechanism.

Haploinsufficiency

Compound heterozygosity

Exome

Neurodevelopmental disorder

Heterozygote advantage

10.1038/s41431-019-0519-x

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Citations (13)

Characteristics of pediatric multiple sclerosis: The Turkish pediatric multiple sclerosis database

European Journal of Paediatric Neurology (2017)

Ünsal Yılmaz Banu Anlar Kıvılcım Gücüyener Ahmet Yaramış Ali Cansu

10.1016/j.ejpn.2017.06.004