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Papers by coskun yarar

Research paper thumbnail of Neurological Effects of Acute Carbon Monoxide Poisoning in Children

Journal of Pediatric Neurosciences, 2009

Carbon monoxide poisoning (COP) is one of the most common causes of mortality and morbidity due t... more Carbon monoxide poisoning (COP) is one of the most common causes of mortality and morbidity due to poisoning in all over the world. Although the incidence of COP has not been known exactly in the childhood, almost one-third of CO exposures occurred in children. The data regarding COP in children are inconclusive. Children may be more vulnerable to CO exposure than adults as a result of their high respiration and metabolic rates, high oxygen metabolism, and immature central nervous system. Recent researches proposed new theories about neurological effects of CO toxicity. The clinical presentations associated acute COP may be various and nonspecific. Unrecognized CO exposure may lead to significant morbidity and mortality. CO exposed children often become symptomatic earlier, and recover more rapidly, than similarly CO exposed adults. Mild clinical signs and symptoms associated with COP are headache, dizziness, weakness, lethargy, and myalgia; however, severe signs and symptoms such a...

Research paper thumbnail of Evaluation of ketogenic diet therapy in children diagnosed with drug-resistant epilepsy: a single-center experience

The Turkish Journal of Pediatrics

Epilepsy incidence rates in children range from 0.5 to 8 per 1,000 according to population-based ... more Epilepsy incidence rates in children range from 0.5 to 8 per 1,000 according to population-based research. 1 Nearly, 20-40% of children with seizures fail to respond to medical treatment due to uncontrolled epilepsy or drug resistance. 2-4 Drug-resistant epilepsy (DRE) refers to epilepsy that fails to respond to the trials of two or three antiepileptic drugs (AEDs) 5 , in which epilepsy surgery, vagal nerve stimulation, deep brain stimulation and ketogenic diet (KD) therapy are the most prominent treatment options. 6,7 Epilepsy surgery is the primary treatment option when there is an epileptic focus that can be removed in drug-resistant epilepsies. Ketogenic diet is a good treatment option for children who cannot undergo surgery, as in most studies, more than half of the patients treated with KD report a reduction in seizure frequency of at least 50%. 3,8,9

Research paper thumbnail of Neurological Face of Familial Mediterranean Fever

Turkish Archives of Pediatrics

Research paper thumbnail of The Prevalence of Febrile Seizure and Associated Factors Among Turkish Children

International Journal of Clinical Pediatrics, 2014

Background: The aim of the present study was to determine the prevalence and risk factors of febr... more Background: The aim of the present study was to determine the prevalence and risk factors of febrile seizure (FS) in Eskisehir province, Turkey. Methods: The survey was conducted by family physicians and involved two steps. In the first step of research, 1,000 randomly selected 0-6 years old children were invited to come to their family health centers. A specific questionnaire was administered to the parents during face to face sessions. The children who had had a history of FS were referred to the university hospital where detailed medical histories were taken and neurological examinations were conducted. Results: The prevalence of FS was calculated to be 2.57%. The ratio of male to female was 1:1. The relationships between a positive history of FS and study variables were analyzed through logistic regression. It was found that attendance to day care center affects the prevalence of FS, with the risk of FS being 19.35 times higher if child attends to day care. Also familial history of FS and consanguinity of parents increase the risk that their children will have FS 7.52 and 13.1 times higher, respectively. Conclusions: FS is still a frequent problem in pediatric practice. Although the prevalence of FS might vary according to the methodology of study, this present study found that the prevalence of FS was 2.57% among Turkish children.

Research paper thumbnail of Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype

International Journal of Cardiology, 2015

Research paper thumbnail of Optic Nerve Sheath Measurement in Children with Head Trauma

World Academy of Science, Engineering and Technology, International Journal of Humanities and Social Sciences, Jun 24, 2019

Research paper thumbnail of The Turkish Journal of Pediatrics 2008; 50: 235-241 Original Analysis of the features of acute carbon monoxide poisoning and hyperbaric oxygen therapy in children

features of acute carbon monoxide poisoning and hyperbaric oxygen therapy

Research paper thumbnail of Interleukin-1β Levels in Neonatal Late-Onset Sepsis

Background. Sepsis is an important cause of mortality in newborns. However, a single reliable mar... more Background. Sepsis is an important cause of mortality in newborns. However, a single reliable marker is not available for the diagnosis of neonatal late-onset sepsis (NLS). The aim of this study is to evaluate the value of serum amyloid A (SAA) and procalcitonin (PCT) in the diagnosis and follow-up of NLS. Methods. 36 septic and healthy newborns were included in the study. However, SAA, PCT, TNF-α, IL-1β, and CRP were serially measured on days 0, 4, and 8 in the patients and once in the controls. Töllner’s sepsis score (TSS) was calculated for each patient. Results.CRP,PCT,andTNF-α levels in septic neonates at each study day were significantly higher than in the controls (P =.001). SAA and IL-1β levels did not differ from healthy neonates. The sensitivity

Research paper thumbnail of Cerebral sinovenous thrombosis in children: clinical presentation, locations, and acquired and inherited prothrombotic risk factors

The Turkish Journal of Pediatrics, 2021

Cerebral sinovenous thrombosis (CSVT) in children is a rare and life-threatening cerebrovascular ... more Cerebral sinovenous thrombosis (CSVT) in children is a rare and life-threatening cerebrovascular condition, and with increased clinical awareness and improved neuroradiological techniques, the disease can now be diagnosed more frequently and at earlier stages. Early diagnosis of CSVT is crucial since the risk of acute complications and long-term sequelae can be substantially reduced if appropriate treatment is initiated within the first few hours. 1 The incidence of childhood CSVT occurs between 0.4 and 0.7 children per 100,000 children per year. 2 The incidence is higher among neonates (30-50%) compared to other pediatric age groups. There is a male predominance with boys accounting for approximately two-thirds of all cases in children. 3

Research paper thumbnail of Identification of a Homozygous Deletion within FGD4 in a Charcot-Marie-Tooth type 4H Family by Exome Sequencing

Journal of Pediatric Neurology, 2021

Charcot-Marie-Tooth (CMT) disease is a group of clinically and genetically heterogeneous peripher... more Charcot-Marie-Tooth (CMT) disease is a group of clinically and genetically heterogeneous peripheral neuropathies by causing distal muscle weakness, sensory impairment, hyporeflexia, and skeletal deformities. Both of sequence and copy number variations (CNVs) of over 80 genes have been described in CMT patients so far, and FGD4 variants are among the uncommon causes of the disease. In this article, we present four siblings with early-onset CMT, who were found to carry a novel homozygous deletion within FGD4 gene by exome sequencing. Since CNVs of CMT-related genes other than PMP22 have been rarely described in literature and they are prone to be overlooked by next generation sequencing, this report confirms the importance of paying additional attention to these variants to increase diagnostic yield in CMT.

Research paper thumbnail of Medical Notification: The Basic Principles for preterm, noticed as developmental impairment; for protection, them, to be disabilities for leading to handicap

AIM: The prematurity as a developmental impairment, is a reasoning for some disabilities, causing... more AIM: The prematurity as a developmental impairment, is a reasoning for some disabilities, causing handicaps. Therefore, the principles of medical approach to the preterm and the disabilities for protection to handicap is indicated as concepts. Grounding Aspects: The Human Rights and Disability Acts, National and Universal articles are also taken as grounding of this notions. Each person as a member of Homo sapiens, sapiens are same, no discrimination in any matter is accepted, all are illegal. Individually everyone is unique and free, by sole characteristics, From the cellular point of view, have potential to be a human being, therefore, respect have to be considered. After the viability phase, the protection and caring of the right to life is obligatory. Live birth means to gin all the legal right of citizenship, earn the heir. Medical considerations are not only for physical health, to be other aspects are to be included, thus, human is a whole, confirming the social and cultural ...

Research paper thumbnail of Rituximab Treatment in Acute Disseminated Encephalomyelitis Associated with Salmonella Infection

Case Reports in Pediatrics, 2021

Acute disseminated encephalomyelitis (ADEM) is an inflammatory, demyelinating, and rapidly progre... more Acute disseminated encephalomyelitis (ADEM) is an inflammatory, demyelinating, and rapidly progressive disorder of the central nervous system. This condition is also known as postinfectious encephalomyelitis, and it is characterized by multifocal lesions in the brain and spinal cord with widespread neurological findings. High doses of intravenous (IV) methylprednisolone, intravenous immunoglobulin (IVIG), and plasma exchange (PLEX) treatments comprise the first-line therapy. There are limited pediatric case reports refractory to standard treatment. Here, we present the case of a 17-year-old girl diagnosed with ADEM associated with Salmonella infection, which was treated with rituximab.

Research paper thumbnail of Central nervous system malformations and contributing disorders

Purpose: Neurologic disorders may be seen in patients with cerebral malformations. The aim of thi... more Purpose: Neurologic disorders may be seen in patients with cerebral malformations. The aim of this study is determining epilepsy and the other contributing disorders in the patients with cerebral malformations using Gross Motor Function Classification Scale (GMFCS) and Bimanual Fine Motor Function Scale (BFMFS) are used to determine motor function. Methods: The clinical and neuroradiologic features of 76 patients with cerebral malformations admitted between the dates December 2011 and May 2012 were evaluated and motor prognosis is determined. Result: The most common associated disorders were mental retardation, epilepsy, language and speech disorders, malnutrition, Cerebral Palsy. Epilepsy was seen at half of the patients, and it was most common in cerebral cortex malformations (P<0.05). GMFCS level 5 was most common associated with cerebral cortex malformations. Most of the patients with cerebral palsy had GMFCS level 5. Oromotor dysfunction was most common in cerebral cortex ma...

Research paper thumbnail of A Child Who Presenting With a Round Pneumonia

Round pneumonia (RP) is characterized with spherical consolidation on chest radiograph and usuall... more Round pneumonia (RP) is characterized with spherical consolidation on chest radiograph and usually confused with pulmonary mass. RP is usually seen in children, and usually results from bacteria. The diagnosis of RP based on chest radiograph and clinical findings, further investigation is unnecessary and it is treated with appropriate antibiotics and supportive therapy. We present a 15- month old girl who was admitted with cough and fever and spherical mass appearence on chest radiograph, diagnosed as round pneumonia and treated with cefuroxim axetil without further evaluation. On the seventh day her both clinical and radiological findings recovered completely.

Research paper thumbnail of Tıbbi İlkeler: Olgunlaşmamışlık olarak tanımlanan Prematürelikte, sakatlık oluşmaması ve özürlüğe neden olmaması için etik öneriler (GAYE)

AMAC: Prematurelik temelinde, kusur, sakatlik ve ozurlu olmanin onlenebilmesi acisindan tibbi yak... more AMAC: Prematurelik temelinde, kusur, sakatlik ve ozurlu olmanin onlenebilmesi acisindan tibbi yaklasimlarin ilkeleri sunulmaktadir. Konu baslica temel haklar ve tibbi prensipler ile yaklasim boyutu ile irdelenmektedir. Dayanaklar/Kaynaklar (Materyal ve Metot): Tum Insan Haklari, Ozurlu Kanunlari temelinde yaklasim yapilmistir. Her insan Homo sapiens, sapiens olarak aynidir, ayni turun elemanidir. Herhangi bir ayirim kabul edilemez. Her birey tek ve ozel, ozguldur. Hucre duzeyinden itibaren tum olusumlar bir insan olarak saygi ve gereken onura sahiptir ve bir insanlik degeridir. Yasam sinirindan itibaren, yasam hakki one cikmaktadir. Canli dogum ile tum birey olarak tum vatandaslik haklarindan yararlanabilmekte, miras hakki da olusmaktadir. Prematurelik, kusurlu, ozurlu ve engelli olmasi bir ayirimcilik olarak Insan Haklari temelinde Kabul edilemez yaklasimdir ve tum saglik hizmetlerinden yararlanma hakki bulunmaktadir. Saglik yaklasimlari sadece fiziksel olarak irdelenemez, saglikli...

Research paper thumbnail of Subakut Sklerozan Panensefali̇tli̇ Hastalarda Kli̇ni̇k Gi̇di̇şat Ve Prognoz

Amac: Bu calismada Eskisehir Osmangazi Universitesi Tip Fakultesi, Cocuk Sagligi ve Hastaliklari ... more Amac: Bu calismada Eskisehir Osmangazi Universitesi Tip Fakultesi, Cocuk Sagligi ve Hastaliklari Anabilim Dali’nin Cocuk Noroloji Unitesinde yapilmistir. 1998 ile 2011 yillari arasinda Cocuk Noroloji Bilim dalinda SSPE tanisiyla izlenen 14 hasta retrospektif olarak incelenmistir Purpose: In this study we evalutaed fourten patients retrospectivley that had admitted to Eskisehir Osmangazi University pediatric neurology departmen between the years 1998-2011. Gerec: Hastalarin son norolojik durumu norolojik defisit indeksi(NDI) ile tespit edilmistir. Hastalarin asilama durumu, klinik bulgulari goz bulgulari ve beyin goruntuleme yontemleri degerlendirilmistir. Material: Patient’s last neurologic state is examined by neurologic deficiit index (NDI). Vaccination state, clinical findings, visual findings, cerebral imaging findings are evaluated. Yontemler: Hastaligi evrelerken Jabbour'un siniflamasi kullanildi. Hastalarin BOS inclemesi yapildi, BOS kizamik IgG ve IgM antikorlari IFA y...

Research paper thumbnail of Evaluation of micronutrient levels in children with cerebral palsy

Pediatrics International, 2021

BACKGROUND Many studies evaluating the nutritional status of children with CP have focused on ene... more BACKGROUND Many studies evaluating the nutritional status of children with CP have focused on energy requirements and protein intake. The present work aimed to assess nutritional status and micronutrient levels of children with cerebral palsy. METHODS This multicenter, cross-sectional and observational study was conducted in ten different cities of Turkey. Data were available for 398 participants. Anthropometric measurements, feeding mode, nutritional status and micronutrient levels were evaluated. RESULTS The study was conducted with 398 participants (303 patients and 95 healthy controls). The statistical analysis showed that according to the Gomez classification, weight-for-age (WFA) revealed malnutrition in 92.6% of children with cerebral palsy based on CDC percentiles. Measurements of micronutrient levels showed that zinc levels were low in patients, whereas vitamin A levels were low in controls. Phosphorous and manganese levels were significantly lower in malnourished children than in normal children. The results revealed that children consuming enteral nutrition solution had higher selenium and lower zinc levels than nonconsumers. CONCLUSIONS Malnutrition is not only a protein- or calorie-based problem; micronutrient deficiencies might cause severe health problems. Children with chronic neurological disabilities must be carefully evaluated for these issues. Therefore, nutritional interventions should be adapted to nutrition.

Research paper thumbnail of NDE1 ‐related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly

American Journal of Medical Genetics Part A, 2021

NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organizati... more NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, specifically microlissencephaly and microhydranencephaly. The root of these different phenotypes remains unclear. Here, we report a 20-year-old male patient referred to our clinics due to severe microcephaly, developmental delay, spastic quadriplegia, and dysmorphic features. The cranial computed tomography revealed abnormal brain structure and excess of cerebrospinal fluid, consistent with microhydranencephaly. A homozygous c.684_685del, p.(Pro229TrpfsTer85) change in NDE1 gene was found by clinical exome analysis. The variant has previously been reported in individuals with microlissencephaly, therefore we propose that the same variant within the gene may cause either microlissencephaly or microhydranencephaly phenotypes. There are only a few papers about NDE1-related disorders in the literature and the patient we described is important to clarify the phenotypic spectrum of the disease.

Research paper thumbnail of Expression of microrna 146a, 155, 181 and 223 in febrile seizure

The Turkish Journal of Pediatrics, 2021

Background. We studied microRNAs (miRNAs)-146a,-155,-181 and-223 expressions and proinflammatory ... more Background. We studied microRNAs (miRNAs)-146a,-155,-181 and-223 expressions and proinflammatory cytokine levels in children with Febrile seizure (FS) and compared to febrile controls. Methods. This prospective multicenter study examined representative populations in eight different cities in Turkey between June 30, 2018 and July 1, 2019. Blood samples were taken from all children at presentation. The real time (RT) polymerase chain reaction (PCR) were used to measure the expressions of microRNAs and tumor necrosis factor alpha (TNF-α), interleukin 1 beta (IL-1β), and interleukin 6 (IL-6) levels were studied by enzyme-linked immuno-sorbent assay. Results. The study was conducted with 60 children; 30 children with FS and 30 children in the febrile control group. The seizure was classified as simple FS in 73.3 % and half of the children were experiencing their first FS episode. Although the expression levels of miRNAs-146a,-181a and-155 were higher in febrile seizure patients, only miRNAs 146a level was significantly higher in FS patients. Serum TNF-α, IL-1β, IL-6 levels were higher in the FS group than the controls. The results of statistical analysis showed that there were correlations within miRNA expressions in children with FS. No differences were found considering miRNA expression between FS type, number of FS experienced. Conclusions. miRNAs-146a,-181a,-155 and-223 may be involved in FS pathogenesis. Altered miRNA expression levels might be an adaptive response to inflammation. New therapeutic approaches might be developed based on miRNA expressions in children with FS.

Research paper thumbnail of Evaluation of Immunization Status in Patients with Cerebral Palsy: Multicenter CP-VACC Study

Children with chronic neurological diseases,including cerebral palsy(CP)are especially susceptibl... more Children with chronic neurological diseases,including cerebral palsy(CP)are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease.This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey,wherein outpatients children with CP were included in the study.Data on patient and CP characteristics,concomitant disorders as well as vaccination status included in the National Immunization Program(NIP),administration and recommendation of influenza vaccine were collected at a single visit. A total of 1194 patients were enrolled.Regarding immunization records,the most frequently administrated and schedule completed vaccines were BCG(90.8%),hepatitis B(88.9%)and oral poliovirus vaccine (88.5%).MMR was administered to 77.3% and...

Research paper thumbnail of Neurological Effects of Acute Carbon Monoxide Poisoning in Children

Journal of Pediatric Neurosciences, 2009

Carbon monoxide poisoning (COP) is one of the most common causes of mortality and morbidity due t... more Carbon monoxide poisoning (COP) is one of the most common causes of mortality and morbidity due to poisoning in all over the world. Although the incidence of COP has not been known exactly in the childhood, almost one-third of CO exposures occurred in children. The data regarding COP in children are inconclusive. Children may be more vulnerable to CO exposure than adults as a result of their high respiration and metabolic rates, high oxygen metabolism, and immature central nervous system. Recent researches proposed new theories about neurological effects of CO toxicity. The clinical presentations associated acute COP may be various and nonspecific. Unrecognized CO exposure may lead to significant morbidity and mortality. CO exposed children often become symptomatic earlier, and recover more rapidly, than similarly CO exposed adults. Mild clinical signs and symptoms associated with COP are headache, dizziness, weakness, lethargy, and myalgia; however, severe signs and symptoms such a...

Research paper thumbnail of Evaluation of ketogenic diet therapy in children diagnosed with drug-resistant epilepsy: a single-center experience

The Turkish Journal of Pediatrics

Epilepsy incidence rates in children range from 0.5 to 8 per 1,000 according to population-based ... more Epilepsy incidence rates in children range from 0.5 to 8 per 1,000 according to population-based research. 1 Nearly, 20-40% of children with seizures fail to respond to medical treatment due to uncontrolled epilepsy or drug resistance. 2-4 Drug-resistant epilepsy (DRE) refers to epilepsy that fails to respond to the trials of two or three antiepileptic drugs (AEDs) 5 , in which epilepsy surgery, vagal nerve stimulation, deep brain stimulation and ketogenic diet (KD) therapy are the most prominent treatment options. 6,7 Epilepsy surgery is the primary treatment option when there is an epileptic focus that can be removed in drug-resistant epilepsies. Ketogenic diet is a good treatment option for children who cannot undergo surgery, as in most studies, more than half of the patients treated with KD report a reduction in seizure frequency of at least 50%. 3,8,9

Research paper thumbnail of Neurological Face of Familial Mediterranean Fever

Turkish Archives of Pediatrics

Research paper thumbnail of The Prevalence of Febrile Seizure and Associated Factors Among Turkish Children

International Journal of Clinical Pediatrics, 2014

Background: The aim of the present study was to determine the prevalence and risk factors of febr... more Background: The aim of the present study was to determine the prevalence and risk factors of febrile seizure (FS) in Eskisehir province, Turkey. Methods: The survey was conducted by family physicians and involved two steps. In the first step of research, 1,000 randomly selected 0-6 years old children were invited to come to their family health centers. A specific questionnaire was administered to the parents during face to face sessions. The children who had had a history of FS were referred to the university hospital where detailed medical histories were taken and neurological examinations were conducted. Results: The prevalence of FS was calculated to be 2.57%. The ratio of male to female was 1:1. The relationships between a positive history of FS and study variables were analyzed through logistic regression. It was found that attendance to day care center affects the prevalence of FS, with the risk of FS being 19.35 times higher if child attends to day care. Also familial history of FS and consanguinity of parents increase the risk that their children will have FS 7.52 and 13.1 times higher, respectively. Conclusions: FS is still a frequent problem in pediatric practice. Although the prevalence of FS might vary according to the methodology of study, this present study found that the prevalence of FS was 2.57% among Turkish children.

Research paper thumbnail of Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype

International Journal of Cardiology, 2015

Research paper thumbnail of Optic Nerve Sheath Measurement in Children with Head Trauma

World Academy of Science, Engineering and Technology, International Journal of Humanities and Social Sciences, Jun 24, 2019

Research paper thumbnail of The Turkish Journal of Pediatrics 2008; 50: 235-241 Original Analysis of the features of acute carbon monoxide poisoning and hyperbaric oxygen therapy in children

features of acute carbon monoxide poisoning and hyperbaric oxygen therapy

Research paper thumbnail of Interleukin-1β Levels in Neonatal Late-Onset Sepsis

Background. Sepsis is an important cause of mortality in newborns. However, a single reliable mar... more Background. Sepsis is an important cause of mortality in newborns. However, a single reliable marker is not available for the diagnosis of neonatal late-onset sepsis (NLS). The aim of this study is to evaluate the value of serum amyloid A (SAA) and procalcitonin (PCT) in the diagnosis and follow-up of NLS. Methods. 36 septic and healthy newborns were included in the study. However, SAA, PCT, TNF-α, IL-1β, and CRP were serially measured on days 0, 4, and 8 in the patients and once in the controls. Töllner’s sepsis score (TSS) was calculated for each patient. Results.CRP,PCT,andTNF-α levels in septic neonates at each study day were significantly higher than in the controls (P =.001). SAA and IL-1β levels did not differ from healthy neonates. The sensitivity

Research paper thumbnail of Cerebral sinovenous thrombosis in children: clinical presentation, locations, and acquired and inherited prothrombotic risk factors

The Turkish Journal of Pediatrics, 2021

Cerebral sinovenous thrombosis (CSVT) in children is a rare and life-threatening cerebrovascular ... more Cerebral sinovenous thrombosis (CSVT) in children is a rare and life-threatening cerebrovascular condition, and with increased clinical awareness and improved neuroradiological techniques, the disease can now be diagnosed more frequently and at earlier stages. Early diagnosis of CSVT is crucial since the risk of acute complications and long-term sequelae can be substantially reduced if appropriate treatment is initiated within the first few hours. 1 The incidence of childhood CSVT occurs between 0.4 and 0.7 children per 100,000 children per year. 2 The incidence is higher among neonates (30-50%) compared to other pediatric age groups. There is a male predominance with boys accounting for approximately two-thirds of all cases in children. 3

Research paper thumbnail of Identification of a Homozygous Deletion within FGD4 in a Charcot-Marie-Tooth type 4H Family by Exome Sequencing

Journal of Pediatric Neurology, 2021

Charcot-Marie-Tooth (CMT) disease is a group of clinically and genetically heterogeneous peripher... more Charcot-Marie-Tooth (CMT) disease is a group of clinically and genetically heterogeneous peripheral neuropathies by causing distal muscle weakness, sensory impairment, hyporeflexia, and skeletal deformities. Both of sequence and copy number variations (CNVs) of over 80 genes have been described in CMT patients so far, and FGD4 variants are among the uncommon causes of the disease. In this article, we present four siblings with early-onset CMT, who were found to carry a novel homozygous deletion within FGD4 gene by exome sequencing. Since CNVs of CMT-related genes other than PMP22 have been rarely described in literature and they are prone to be overlooked by next generation sequencing, this report confirms the importance of paying additional attention to these variants to increase diagnostic yield in CMT.

Research paper thumbnail of Medical Notification: The Basic Principles for preterm, noticed as developmental impairment; for protection, them, to be disabilities for leading to handicap

AIM: The prematurity as a developmental impairment, is a reasoning for some disabilities, causing... more AIM: The prematurity as a developmental impairment, is a reasoning for some disabilities, causing handicaps. Therefore, the principles of medical approach to the preterm and the disabilities for protection to handicap is indicated as concepts. Grounding Aspects: The Human Rights and Disability Acts, National and Universal articles are also taken as grounding of this notions. Each person as a member of Homo sapiens, sapiens are same, no discrimination in any matter is accepted, all are illegal. Individually everyone is unique and free, by sole characteristics, From the cellular point of view, have potential to be a human being, therefore, respect have to be considered. After the viability phase, the protection and caring of the right to life is obligatory. Live birth means to gin all the legal right of citizenship, earn the heir. Medical considerations are not only for physical health, to be other aspects are to be included, thus, human is a whole, confirming the social and cultural ...

Research paper thumbnail of Rituximab Treatment in Acute Disseminated Encephalomyelitis Associated with Salmonella Infection

Case Reports in Pediatrics, 2021

Acute disseminated encephalomyelitis (ADEM) is an inflammatory, demyelinating, and rapidly progre... more Acute disseminated encephalomyelitis (ADEM) is an inflammatory, demyelinating, and rapidly progressive disorder of the central nervous system. This condition is also known as postinfectious encephalomyelitis, and it is characterized by multifocal lesions in the brain and spinal cord with widespread neurological findings. High doses of intravenous (IV) methylprednisolone, intravenous immunoglobulin (IVIG), and plasma exchange (PLEX) treatments comprise the first-line therapy. There are limited pediatric case reports refractory to standard treatment. Here, we present the case of a 17-year-old girl diagnosed with ADEM associated with Salmonella infection, which was treated with rituximab.

Research paper thumbnail of Central nervous system malformations and contributing disorders

Purpose: Neurologic disorders may be seen in patients with cerebral malformations. The aim of thi... more Purpose: Neurologic disorders may be seen in patients with cerebral malformations. The aim of this study is determining epilepsy and the other contributing disorders in the patients with cerebral malformations using Gross Motor Function Classification Scale (GMFCS) and Bimanual Fine Motor Function Scale (BFMFS) are used to determine motor function. Methods: The clinical and neuroradiologic features of 76 patients with cerebral malformations admitted between the dates December 2011 and May 2012 were evaluated and motor prognosis is determined. Result: The most common associated disorders were mental retardation, epilepsy, language and speech disorders, malnutrition, Cerebral Palsy. Epilepsy was seen at half of the patients, and it was most common in cerebral cortex malformations (P<0.05). GMFCS level 5 was most common associated with cerebral cortex malformations. Most of the patients with cerebral palsy had GMFCS level 5. Oromotor dysfunction was most common in cerebral cortex ma...

Research paper thumbnail of A Child Who Presenting With a Round Pneumonia

Round pneumonia (RP) is characterized with spherical consolidation on chest radiograph and usuall... more Round pneumonia (RP) is characterized with spherical consolidation on chest radiograph and usually confused with pulmonary mass. RP is usually seen in children, and usually results from bacteria. The diagnosis of RP based on chest radiograph and clinical findings, further investigation is unnecessary and it is treated with appropriate antibiotics and supportive therapy. We present a 15- month old girl who was admitted with cough and fever and spherical mass appearence on chest radiograph, diagnosed as round pneumonia and treated with cefuroxim axetil without further evaluation. On the seventh day her both clinical and radiological findings recovered completely.

Research paper thumbnail of Tıbbi İlkeler: Olgunlaşmamışlık olarak tanımlanan Prematürelikte, sakatlık oluşmaması ve özürlüğe neden olmaması için etik öneriler (GAYE)

AMAC: Prematurelik temelinde, kusur, sakatlik ve ozurlu olmanin onlenebilmesi acisindan tibbi yak... more AMAC: Prematurelik temelinde, kusur, sakatlik ve ozurlu olmanin onlenebilmesi acisindan tibbi yaklasimlarin ilkeleri sunulmaktadir. Konu baslica temel haklar ve tibbi prensipler ile yaklasim boyutu ile irdelenmektedir. Dayanaklar/Kaynaklar (Materyal ve Metot): Tum Insan Haklari, Ozurlu Kanunlari temelinde yaklasim yapilmistir. Her insan Homo sapiens, sapiens olarak aynidir, ayni turun elemanidir. Herhangi bir ayirim kabul edilemez. Her birey tek ve ozel, ozguldur. Hucre duzeyinden itibaren tum olusumlar bir insan olarak saygi ve gereken onura sahiptir ve bir insanlik degeridir. Yasam sinirindan itibaren, yasam hakki one cikmaktadir. Canli dogum ile tum birey olarak tum vatandaslik haklarindan yararlanabilmekte, miras hakki da olusmaktadir. Prematurelik, kusurlu, ozurlu ve engelli olmasi bir ayirimcilik olarak Insan Haklari temelinde Kabul edilemez yaklasimdir ve tum saglik hizmetlerinden yararlanma hakki bulunmaktadir. Saglik yaklasimlari sadece fiziksel olarak irdelenemez, saglikli...

Research paper thumbnail of Subakut Sklerozan Panensefali̇tli̇ Hastalarda Kli̇ni̇k Gi̇di̇şat Ve Prognoz

Amac: Bu calismada Eskisehir Osmangazi Universitesi Tip Fakultesi, Cocuk Sagligi ve Hastaliklari ... more Amac: Bu calismada Eskisehir Osmangazi Universitesi Tip Fakultesi, Cocuk Sagligi ve Hastaliklari Anabilim Dali’nin Cocuk Noroloji Unitesinde yapilmistir. 1998 ile 2011 yillari arasinda Cocuk Noroloji Bilim dalinda SSPE tanisiyla izlenen 14 hasta retrospektif olarak incelenmistir Purpose: In this study we evalutaed fourten patients retrospectivley that had admitted to Eskisehir Osmangazi University pediatric neurology departmen between the years 1998-2011. Gerec: Hastalarin son norolojik durumu norolojik defisit indeksi(NDI) ile tespit edilmistir. Hastalarin asilama durumu, klinik bulgulari goz bulgulari ve beyin goruntuleme yontemleri degerlendirilmistir. Material: Patient’s last neurologic state is examined by neurologic deficiit index (NDI). Vaccination state, clinical findings, visual findings, cerebral imaging findings are evaluated. Yontemler: Hastaligi evrelerken Jabbour'un siniflamasi kullanildi. Hastalarin BOS inclemesi yapildi, BOS kizamik IgG ve IgM antikorlari IFA y...

Research paper thumbnail of Evaluation of micronutrient levels in children with cerebral palsy

Pediatrics International, 2021

BACKGROUND Many studies evaluating the nutritional status of children with CP have focused on ene... more BACKGROUND Many studies evaluating the nutritional status of children with CP have focused on energy requirements and protein intake. The present work aimed to assess nutritional status and micronutrient levels of children with cerebral palsy. METHODS This multicenter, cross-sectional and observational study was conducted in ten different cities of Turkey. Data were available for 398 participants. Anthropometric measurements, feeding mode, nutritional status and micronutrient levels were evaluated. RESULTS The study was conducted with 398 participants (303 patients and 95 healthy controls). The statistical analysis showed that according to the Gomez classification, weight-for-age (WFA) revealed malnutrition in 92.6% of children with cerebral palsy based on CDC percentiles. Measurements of micronutrient levels showed that zinc levels were low in patients, whereas vitamin A levels were low in controls. Phosphorous and manganese levels were significantly lower in malnourished children than in normal children. The results revealed that children consuming enteral nutrition solution had higher selenium and lower zinc levels than nonconsumers. CONCLUSIONS Malnutrition is not only a protein- or calorie-based problem; micronutrient deficiencies might cause severe health problems. Children with chronic neurological disabilities must be carefully evaluated for these issues. Therefore, nutritional interventions should be adapted to nutrition.

Research paper thumbnail of NDE1 ‐related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly

American Journal of Medical Genetics Part A, 2021

NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organizati... more NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, specifically microlissencephaly and microhydranencephaly. The root of these different phenotypes remains unclear. Here, we report a 20-year-old male patient referred to our clinics due to severe microcephaly, developmental delay, spastic quadriplegia, and dysmorphic features. The cranial computed tomography revealed abnormal brain structure and excess of cerebrospinal fluid, consistent with microhydranencephaly. A homozygous c.684_685del, p.(Pro229TrpfsTer85) change in NDE1 gene was found by clinical exome analysis. The variant has previously been reported in individuals with microlissencephaly, therefore we propose that the same variant within the gene may cause either microlissencephaly or microhydranencephaly phenotypes. There are only a few papers about NDE1-related disorders in the literature and the patient we described is important to clarify the phenotypic spectrum of the disease.

Research paper thumbnail of Expression of microrna 146a, 155, 181 and 223 in febrile seizure

The Turkish Journal of Pediatrics, 2021

Background. We studied microRNAs (miRNAs)-146a,-155,-181 and-223 expressions and proinflammatory ... more Background. We studied microRNAs (miRNAs)-146a,-155,-181 and-223 expressions and proinflammatory cytokine levels in children with Febrile seizure (FS) and compared to febrile controls. Methods. This prospective multicenter study examined representative populations in eight different cities in Turkey between June 30, 2018 and July 1, 2019. Blood samples were taken from all children at presentation. The real time (RT) polymerase chain reaction (PCR) were used to measure the expressions of microRNAs and tumor necrosis factor alpha (TNF-α), interleukin 1 beta (IL-1β), and interleukin 6 (IL-6) levels were studied by enzyme-linked immuno-sorbent assay. Results. The study was conducted with 60 children; 30 children with FS and 30 children in the febrile control group. The seizure was classified as simple FS in 73.3 % and half of the children were experiencing their first FS episode. Although the expression levels of miRNAs-146a,-181a and-155 were higher in febrile seizure patients, only miRNAs 146a level was significantly higher in FS patients. Serum TNF-α, IL-1β, IL-6 levels were higher in the FS group than the controls. The results of statistical analysis showed that there were correlations within miRNA expressions in children with FS. No differences were found considering miRNA expression between FS type, number of FS experienced. Conclusions. miRNAs-146a,-181a,-155 and-223 may be involved in FS pathogenesis. Altered miRNA expression levels might be an adaptive response to inflammation. New therapeutic approaches might be developed based on miRNA expressions in children with FS.

Research paper thumbnail of Evaluation of Immunization Status in Patients with Cerebral Palsy: Multicenter CP-VACC Study

Children with chronic neurological diseases,including cerebral palsy(CP)are especially susceptibl... more Children with chronic neurological diseases,including cerebral palsy(CP)are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease.This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey,wherein outpatients children with CP were included in the study.Data on patient and CP characteristics,concomitant disorders as well as vaccination status included in the National Immunization Program(NIP),administration and recommendation of influenza vaccine were collected at a single visit. A total of 1194 patients were enrolled.Regarding immunization records,the most frequently administrated and schedule completed vaccines were BCG(90.8%),hepatitis B(88.9%)and oral poliovirus vaccine (88.5%).MMR was administered to 77.3% and...