Search

Your search keyword '"Herguner, Ozlem"' showing total 32 results
Start Over Author "Herguner, Ozlem" Search Limiters Full Text
32 results on '"Herguner, Ozlem"'

1. Hereditary Spastic Paraplegia Type 26 with a Novel Mutation in B4GALNT1 Gene and Literature Review of the Clinical Features

Author

Incecık, Faruk, Herguner, Ozlem M., and Bozdogan, Sevcan Tug

Subjects
Paralysis, Spastic, Health
Abstract

Author(s): Faruk Incecık [1]; Ozlem M. Herguner [1]; Sevcan Tug Bozdogan [2] Dear Editor, Hereditary spastic paraplegia (HSP) is a syndromic designation for a clinically and genetically heterogeneous group of [...]

Published
2023
Full Text
View/download PDF

2. Homozygous Mutation in CWF19L1 with Recessive Ataxia Syndrome in a Turkish Child

Author

Incecik, Faruk, Ozcanyuz, Duygu G., Bozdogan, Sevcan T., and Herguner, Ozlem M.

Subjects
Medical research, Medicine, Experimental, Nervous system diseases, Ataxia
Abstract

Author(s): Faruk Incecik; Duygu G. Ozcanyuz; Sevcan T. Bozdogan [1]; Ozlem M. Herguner Dear editor, Autosomal recessive cerebellar ataxia (ARCA) is a group of rare, genetically and clinically heterogeneous neurological [...]

Published
2023
Full Text
View/download PDF

3. A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy

Author

Victor, Ronald G, Sweeney, H Lee, Finkel, Richard, McDonald, Craig M, Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L, Topaloglu, Haluk, Miceli, M Carrie, Furlong, Pat, Landry, John, Elashoff, Robert, Cox, David, Abdel-Hamid, Hoda, Apkon, Susan, Barohn, Richard, Belousova, Elena, Bertini, Enrico, Brandsema, John, Bruno, Claudio, Burnette, William, Butterfield, Russell, Campbell, Craig, Carlo, Jose, Chae, Jong-Hee, Chandratre, Saleel, Comi, Giacomo, Connolly, Anne, De Groot, Imelda, Deconinck, Nicolas, Dooley, Joseph, Dubrovsky, Alberto, Durigneux, Julien, Finanger, Erika, Frank, L Matthew, Harper, Amy, Hattori, Ayako, Herguner, Ozlem, Iannaccone, Susan, Janas, Joanne, Jong, Yuh-Jyh, Kirschner, JanBerd, Komaki, Hirofumi, Kuntz, Nancy, Lee, Wang-Tso, Leung, Edward, Mah, Jean, Mathews, Katherine, McDonald, Craig, Mercuri, Eugenio, McMillan, Hugh, Mueller-Felber, Wolfgang, de Munain, Adolfo Lopez, Nakamura, Akinori, Niks, Erik, Ogata, Katsuhisa, Pascual, Samuel, Pegoraro, Elena, Pereon, Yann, Renfroe, Ben, Sanka, Ratna Bhavaraju, Schallner, Jens, Schara, Ulrike, Selby, Kathryn, Sendra, Isabel Illa, Servais, Laurent, Smith, Edward, Sparks, Susan, Victor, Ron, Vilchez, Juan Jose, Wicklund, Matthew, Wilichoswki, Ekkehard, and Wong, Brenda

Subjects
Pediatric, Clinical Research, Duchenne/ Becker Muscular Dystrophy, Clinical Trials and Supportive Activities, Muscular Dystrophy, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Rare Diseases, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Musculoskeletal, Adolescent, Area Under Curve, Child, Dose-Response Relationship, Drug, Double-Blind Method, Follow-Up Studies, Glucocorticoids, Heart Rate, Humans, International Cooperation, Male, Muscular Dystrophy, Duchenne, Quality of Life, Respiratory Function Tests, Tadalafil, Treatment Outcome, Vasodilator Agents, Ventricular Function, Left, Walking, Tadalafil DMD Study Group, Clinical Sciences, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveTo conduct a randomized trial to test the primary hypothesis that once-daily tadalafil, administered orally for 48 weeks, lessens the decline in ambulatory ability in boys with Duchenne muscular dystrophy (DMD).MethodsThree hundred thirty-one participants with DMD 7 to 14 years of age taking glucocorticoids were randomized to tadalafil 0.3 mg·kg-1·d-1, tadalafil 0.6 mg·kg-1·d-1, or placebo. The primary efficacy measure was 6-minute walk distance (6MWD) after 48 weeks. Secondary efficacy measures included North Star Ambulatory Assessment and timed function tests. Performance of Upper Limb (PUL) was a prespecified exploratory outcome.ResultsTadalafil had no effect on the primary outcome: 48-week declines in 6MWD were 51.0 ± 9.3 m with placebo, 64.7 ± 9.8 m with low-dose tadalafil (p = 0.307 vs placebo), and 59.1 ± 9.4 m with high-dose tadalafil (p = 0.538 vs placebo). Tadalafil also had no effect on secondary outcomes. In boys >10 years of age, total PUL score and shoulder subscore declined less with low-dose tadalafil than placebo. Adverse events were consistent with the known safety profile of tadalafil and the DMD disease state.ConclusionsTadalafil did not lessen the decline in ambulatory ability in boys with DMD. Further studies should be considered to confirm the hypothesis-generating upper limb data and to determine whether ambulatory decline can be slowed by initiation of tadalafil before 7 years of age.Clinicaltrialsgov identifierNCT01865084.Classification of evidenceThis study provides Class I evidence that tadalafil does not slow ambulatory decline in 7- to 14-year-old boys with Duchenne muscular dystrophy.

Published
2017

5. Different clinical manifestations of three prime repair exonuclease 1 mutation: A case series

Author

Incecik, Faruk, Balci, Sibel, Ekinci, Rabia Kisla, Herguner, Ozlem, Bisgin, Atil, and Yilmaz, Mustafa

Subjects
Gene mutations -- Health aspects, Nervous system diseases -- Diagnosis -- Genetic aspects -- Development and progression, Aicardi syndrome -- Diagnosis -- Development and progression -- Case studies, Health
Abstract

Byline: Faruk. Incecik, Sibel. Balci, Rabia. Kisla Ekinci, Ozlem. Herguner, Atil. Bisgin, Mustafa. Yilmaz Three prime repair exonuclease 1 (TREX1) degrades single- and double-stranded DNA with 3'-5' exonuclease activity. TREX1 [...]

Published
2020

6. Dysarthria, ataxia, and dystonia associated with COX20 (FAM36A) gene mutation: A case report of a Turkish child

Author

Ozcanyuz, Duygu, Incecik, Faruk, Herguner, Ozlem, Mungan, Neslihan, and Bozdogan, Sevcan

Subjects
Cytochrome c -- Genetic aspects, Gene mutation -- Genetic aspects, Cytochrome oxidase -- Genetic aspects, Health
Abstract

Byline: Duygu. Ozcanyuz, Faruk. Incecik, Ozlem. Herguner, Neslihan. Mungan, Sevcan. Bozdogan Sir, Cytochrome c oxidase 20 (COX20) encodes a protein with a role in the assembly and stability of mitochondrial [...]

Published
2020

7. Effect of levetiracetam usage on serum creatine phosphokinase concentration in patients with epilepsy

Author

Incecik, Faruk, Herguner, Ozlem, and Besen, Seyda

Subjects
Creatine -- Usage, Creatine kinase -- Usage, Epilepsy -- Care and treatment, Medical research -- Usage, Seizures (Medicine) -- Care and treatment, Levetiracetam -- Usage, Kidney diseases -- Care and treatment, Health
Abstract

Byline: Faruk. Incecik, Ozlem. Herguner, Seyda. Besen Background: Levetiracetam (LEV) is a widely used antiepileptic drug (AED) in the treatment of various type of seizures, including generalized epileptic seizure as [...]

Published
2020

8. Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population

Author

Incecik, Faruk, Herguner, Ozlem, and Mungan, Neslihan

Subjects
Ataxia -- Genetic aspects, Medical research, Nervous system diseases -- Genetic aspects, Molecular genetics -- Genetic aspects, Health
Abstract

Byline: Faruk. Incecik, Ozlem. Herguner, Neslihan. Mungan Background: Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of inherited neurodegenerative disorders. The aim of this study was to present the [...]

Published
2020

9. Late-onset Leigh syndrome due to NDUFV1 mutation in a 10-year-old boy initially presenting with ataxia

Author

Incecik, Faruk, Herguner, Ozlem, Besen, Seyda, Bozdoğan, Sevcan, and Mungan, Neslihan

Subjects
Ataxia -- Genetic aspects -- Physiological aspects, Gene mutation -- Physiological aspects, Nervous system diseases -- Genetic aspects -- Physiological aspects, Health
Abstract

Byline: Faruk. Incecik, Ozlem. Herguner, Seyda. Besen, Sevcan. Bozdo?an, Neslihan. Mungan Leigh syndrome (LS) is a progressive neurodegenerative disease caused by either mitochondrial or nuclear DNA mutations resulting in dysfunctional [...]

Published
2018

10. Neuro-ichthyotic syndromes: A case series

Author

Incecık, Faruk, Herguner, Ozlem, Ozbek, Mehmet, Gungor, Serdal, Yılmaz, Mustafa, Rizzo, Wiliam, and Mert, GüLen

Subjects
Neuropsychology -- Analysis, Mental disorders -- Risk factors -- Diagnosis -- Research, Health
Abstract

Byline: Faruk. Incec?k, Ozlem. Herguner, Mehmet. Ozbek, Serdal. Gungor, Mustafa. Y?lmaz, Wiliam. Rizzo, Gülen. Mert Background: The neuro-ichthyotic diseases are clinically and genetically heterogeneous. The purpose of this study was [...]

Published
2018

11. Spinocerebellar ataxia-21 in a Turkish child

Author

Incecik, Faruk, Herguner, Ozlem, Willems, Patrick, and Mungan, Neslihan

Subjects
Spinocerebellar ataxias -- Genetic aspects -- Research -- Causes of -- Diagnosis, Liver diseases -- Genetic aspects -- Research, Child health -- Analysis, Nervous system diseases -- Genetic aspects -- Research, Learning disorders -- Genetic aspects -- Research, Health
Abstract

Byline: Faruk. Incecik, Ozlem. Herguner, Patrick. Willems, Neslihan. Mungan Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of [...]

Published
2018

12. Guillain–Barre syndrome with hyperreflexia and bilateral papillitis in a child

Author

Incecik, Faruk, Herguner, Ozlem, Besen, Seyda, Yar, Kemal, and Altunbasak, Sakir

Subjects
Pediatrics -- Research, Papilledema -- Diagnosis -- Care and treatment -- Research -- Case studies, Health
Abstract

Byline: Faruk. Incecik, Ozlem. Herguner, Seyda. Besen, Kemal. Yar, Sakir. Altunbasak Guillain–Barré syndrome (GBS) is an acute inflammatory polyneuropathy characterized by rapidly progressive symmetric weakness, and areflexia. Areflexia is necessary [...]

Published
2016

13. Intravenous levetiracetam in critically ill children

Author

Incecik, Faruk, Horoz, Ozden, Herguner, Ozlem, Yıldızdas, Dincer, Besen, Seyda, Tolunay, Ilknur, and Altunbasak, Sakir

Subjects
Seizures (Medicine) -- Care and treatment -- Research, Levetiracetam -- Dosage and administration -- Research, Health
Abstract

Byline: Faruk. Incecik, Ozden. Horoz, Ozlem. Herguner, Dincer. Y?ld?zdas, Seyda. Besen, Ilknur. Tolunay, Sakir. Altunbasak Background: To report the effectiveness and safety of intravenous (IV) levetiracetam (LEV) in the treatment [...]

Published
2016

14. Merosin-negative congenital muscular dystrophy: Report of five cases

Author

Incecik, Faruk, Herguner, Ozlem, Ceylaner, Serdar, and Altunbasak, Sakir

Subjects
Muscular dystrophy -- Research -- Care and treatment -- Complications and side effects, Children -- Research -- Health aspects, Gene mutation -- Analysis, Health
Abstract

Byline: Faruk. Incecik, Ozlem. Herguner, Serdar. Ceylaner, Sakir. Altunbasak Context: Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the laminin a-2 gene encoding laminin-a2. Aims: The purpose [...]

Published
2015

15. Urinary and fecal incontinence during levetiracetam therapy

Author

Incecik, Faruk, Herguner, Ozlem, Besen, Seyda, and Altunbasak, Sakir

Subjects
Health
Abstract

Byline: Faruk. Incecik, Ozlem. Herguner, Seyda. Besen, Sakir. Altunbasak Sir, Levetiracetam (LEV), an antiepileptic drug (AED), has become widely used in the treatment of several types of epilepsy. It is [...]

Published
2015

16. Electroconvulsive therapy for refractory status epilepticus in a child: A case report

Author

Incecik, Faruk, Horoz, Ozden, Herguner, Ozlem, Yildizdas, Dincer, and Altunbasak, Sakir

Subjects
Electroshock -- Methods -- Patient outcomes, Pediatric diseases -- Diagnosis -- Care and treatment, Status epilepticus -- Care and treatment -- Diagnosis, Health
Abstract

Byline: Faruk. Incecik, Ozden. Horoz, Ozlem. Herguner, Dincer. Yildizdas, Sakir. Altunbasak Sir, Status epilepticus (SE) is a life-threatening condition with a high mortality rate in spite of aggressive treatment. Electroconvulsive [...]

Published
2015

17. Çocuklarda psödotümör serebri: etyoloji, klinik bulgular, prognoz

Author

Mert, Gulen Gul, Ozcan, Neslihan, Besen, Seyda, Yar, Kemal, Herguner, Ozlem, Incecik, Faruk, Altunbasak, Sakir, and Çukurova Üniversitesi

Subjects
Idiopathic intracranial hypertension, papillae edema, Health Care Sciences and Services, Idiopathic intracranial hypertension,papillae edema,headache,childhood, Sağlık Bilimleri ve Hizmetleri, headache, childhood
Abstract

Purpose: Clinical and neuroimaging findings, aetiologies, treatment modalities and durations, response to treatment, and neurological sequelae of the patients diagnosed with pseudotumor cerebri were reviewed.Materials and Methods: A total of 27 patients who followed up in the Department of Pediatric Neurology at Çukurova Medical Faculty between June 2015 and May 2018 were included in this study. Age, gender distribution, anthropometric measurements, cerebrospinal fluid pressures, neurological, ophthalmologic, neuroimaging and neurological sequelae findings, treatment modalities and durations, response to therapy of 27 patients were reviewed retrospectively. Results: Mean cerebrospinal fluid pressure was 43.29.1cmH2O. The most frequent cause in aetiology were obesity (33.3%), iron deficiency anemia (18.5%) and venous sinus thrombosis (14.8%). All patients were treated with acetazolamid, 59.3% patients received only acetazolamid and 25.9% of patients received combined therapy with acetazolamide and topiramate and 14.8% of patients received combined therapy with acetazolamide and steroids. Of the patients, 25 had excellent neurological and ophtalmological outcome with medical treatment. Conclusion: The most frequently-seen neurological sequelae in pseudotumor cerebri is permanent visual impairment This irreversible situation affects the whole life of child. Therefore it is quite important to think about the diagnosis of pseudotumor cerebri for the children with complaints of headache, visual impairment and diplopia, and to subject them to treatment quickly and properly., Amaç: Psödotümör serebri tanısı alan hastaların klinik ve nörogörüntüleme bulguları, etiyolojileri, tedavi şekilleri ve süreleri, tedaviye yanıtları ve nörolojik sekel varlıkları gözden geçirildiGereç ve Yöntem: Çalışmaya dahil edilen hastalar Haziran 2015 ile Mayıs 2018 arasında Çukurova Tıp Fakültesi Çocuk Nöroloji Bilim Dalında takip edildi. Yirmi yedi hastanın yaş, cinsiyet dağılımı, antropometrik ölçümleri, BOS basınçları, nörolojik, oftalmolojik, nörogörüntüleme, nörolojik sekel bulguları, tedavi modaliteleri ve süreleri, tedavi yanıtı retrospektif olarak incelendi. Bulgular: BOS basıncı ortalaması 43,29,1cmH2O idi. Etiyolojide en sık neden obezite (%33,3), demir eksikliği anemisi (%18,5) ve venöz sinüs trombozu (%14,8) idi. Hastaların %59,3’üne yalnızca asetazolamid tedavisi verildi, %25,9’una topiramat eklendi, %14,8’ine steroid verildi. 25 hastanın nörolojik ve oftalmolojik bulgularında medikal tedavi ile tamamen düzelme görüldü.Sonuç: Psödotümör serebri hastalığında en sık oluşan nörolojik sekel kalıcı görme kaybıdır. Bu durum geri dönüşümsüz olur ve çocuğun tüm hayatını etkiler. Bu nedenle başağrısı, görme kaybı, çift görme şikayetleri olan çocuklarda Psödotümör serebri tanısının düşünülmesi gerektiğinin bilinmesi ve çocukların hızlı ve uygun şekilde tedavisi prognozda oldukça önemlidir.

Published
2018

18. Risk of recurrence after discontinuation of antiepileptic drug therapy in children with epilepsy

Author

Incecik, Faruk, Herguner, Ozlem, Altunbasak, Sakir, Mert, Gulen, and Kiris, Nurcihan

Subjects
Diseases -- Relapse, Children -- Health aspects, Anticonvulsants -- Health aspects -- Research, Epilepsy -- Prognosis -- Drug therapy -- Research, Health
Abstract

Byline: Faruk. Incecik, Ozlem. Herguner, Sakir. Altunbasak, Gulen. Mert, Nurcihan. Kiris Objectives: The numerous antiepileptic drug (AED) withdrawal studies published in the last 40 years have relied mainly on heterogeneous [...]

Published
2014

19. Multiple sulfatase deficiency: A case series of four children

Author

Incecik, Faruk, Ozbek, Mehmet, Gungor, Serdal, Pepe, Stefano, Herguner, Ozlem, Mungan, Neslihan, Gungor, Sabiha, and Altunbasak, Sakir

Subjects
Gene mutations -- Health aspects, Medical genetics -- Research, Children -- Health aspects, Metabolism, Inborn errors of -- Genetic aspects -- Diagnosis, Cysteine -- Health aspects, Health
Abstract

Byline: Faruk. Incecik, Mehmet. Ozbek, Serdal. Gungor, Stefano. Pepe, Ozlem. Herguner, Neslihan. Mungan, Sabiha. Gungor, Sakir. Altunbasak Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and [...]

Published
2013

20. A Turkish family with Sjogren-Larsson syndrome caused by a novel ALDH3A2 mutation

Author

Incecik, Faruk, Herguner, Ozlem, Rizzo, Wiliam, and Altunbasak, Sakir

Subjects
Gene mutations -- Identification and classification, Sjogren-Larsson syndrome -- Diagnosis -- Care and treatment -- Case studies, Health
Abstract

Byline: Faruk. Incecik, Ozlem. Herguner, Wiliam. Rizzo, Sakir. Altunbasak Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene [...]

Published
2013

22. Epilepsy and McArdle Disease in a Child

Author

Incecik, Faruk, Herguner, Ozlem M., Mert, Gulen, Seyda Besen, Kor, Deniz, Yilmaz, Berna S., Mungan, Neslihan O., Altunbasak, Sakir, and Çukurova Üniversitesi

Subjects
lcsh:R5-920, Epilepsy, lcsh:R, lcsh:Medicine, McArdle hastalığı,epilepsi,birliktelik, lcsh:Medicine (General), McArdle's disease, Coexistence, McArdle’s disease,epilepsy,coexistence, Cerrahi
Abstract

McArdle’s disease, defined by the lack of functional glycogen phosphorylase in striated muscle, is inherited as an autosomal recessive trait. Patients typically suffer from reduced exercise tolerance, with muscle cramps and pain provoked by exercise, along with easy fatigability and weakness after exercise. Following prolonged exertion, contractures, rhabdomyolysis, and myoglobinuria may occur. Central nervous system symptoms have rarely been reported in McArdle disease. In this case report, a 13-year-old boy with epilepsy and McArdle’s disease is presented., McArdle hastalığı, çizgili kasta glikojen fosforilaz enziminin eksikliği sonucu gelişen, otozomal resesif kalitim gösteren bir hastalık olarak tanımlanmaktadır. Hastalar genellikle çabuk yorulma ve egzersiz sonrası güçsüzlük ile birlikte, kas krampları, ağrı ve azalmış egzersiz toleransından yakınırlar. Uzun süreli efor sonrası kontraktür, rabdomiyoliz ve miyoglobinüri oluşabilir. Merkezi sinir sistemi belirtileri McArdle hastalığında nadiren bildirilmiştir. Burada, epilepsi ve McArdle hastalığı olan 13 yaşındaki bir çocuk sunulmuştur

Published
2015

23. Mitochondrial membrane protein–associated neurodegeneration: A case series of six children.

Author

Incecik, Faruk, Herguner, Ozlem, and Bisgin, Atil

Subjects
*COGNITION disorders, *GENETIC mutation, *MITOCHONDRIAL membranes, *GENETIC disorders, *DYSTONIA, *SPASTICITY, *MEMBRANE proteins, *NEURODEGENERATION, *SYMPTOMS, *ADOLESCENCE
Abstract

Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra. Mitochondrial membrane protein–associated neurodegeneration (MPAN), a subtype of NBIA, is caused by mutation in the orphan gene C19orf12. A slowly progressive gait disorder from generalized dystonia and spasticity and cognitive impairment constitute the main features of MPAN. The C19orf12 p.Thr11Met mutation is frequent among Turkish patients with MPAN. Here, we report the clinical manifestations and genetic study results of six Turkish patients with MPAN due to different mutations from previous. [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

24. Psoriasiform Drug Eruption Associated with Sodium Valproate

Author

Gul Mert, Gulen, Incecik, Faruk, Gunasti, Suhan, Herguner, Ozlem, and Altunbasak, Sakir

Subjects
Article Subject
Abstract

As psoriasis is a common skin disorder, knowledge of the factors that may induce, trigger, or exacerbate the disease is of primary importance in clinical practice. Drug intake is a major concern in this respect, as new drugs are constantly being added to the list of factors that may influence the course of the disease. We report a patient with a psoriasiform drug eruption associated with the use of sodium valproate. Physicians should be aware of this type of reaction. Early detection of these cases has practical importance since the identification and elimination of the causative drug are essential for therapy success.

Published
2013
Full Text
View/download PDF

28. Intravenous levetiracetam in critically ill children.

Author

Herguner, Ozlem M., Incecik, Faruk, Besen, Seyda, Altunbasak, Sakir, Horoz, Ozden O., Yıldızdas, Dincer, and Tolunay, Ilknur

Abstract

Background: To report the effectiveness and safety of intravenous (IV) levetiracetam (LEV) in the treatment of critically ill children with acute repetitive seizures and status epilepticus (SE) in a children’s hospital. Materials and Methods: We retrospectively analyzed data from children treated with IV LEV. Results: The mean age of the 108 children was 69.39 ± 46.14 months (1-192 months). There were 58 (53.1%) males and 50 (46.8%) females. LEV load dose was 28.33 ± 4.60 mg/kg/dose (10-40 mg/kg). Out of these 108 patients, LEV terminated seizures in 79 (73.1%). No serious adverse effects were observed but agitation and aggression were developed in two patients, and mild erythematous rash and urticaria developed in one patient. Conclusion: Antiepileptic treatment of critically ill children with IV LEV seems to be effective and safe. Further study is needed to elucidate the role of IV LEV in critically ill children. [ABSTRACT FROM AUTHOR]

Published
2016
Full Text
View/download PDF

29. A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.

Author

Incecık, Faruk, Herguner, Ozlem M., Rizzo, Wiliam B., and Altunbasak, Sakir

Abstract

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N) mutation in exon 6 in two patients. [ABSTRACT FROM AUTHOR]

Published
2013
Full Text
View/download PDF

30. Psoriasiform Drug Eruption Associated with Sodium Valproate.

Author

Mert, Gulen Gul, Incecik, Faruk, Gunasti, Suhan, Herguner, Ozlem, and Altunbasak, Sakir

Subjects
VALPROIC acid, PSORIASIS, MEDICAL practice, DRUG utilization, DRUG therapy, PHYSICIANS
Abstract

As psoriasis is a common skin disorder, knowledge of the factors that may induce, trigger, or exacerbate the disease is of primary importance in clinical practice. Drug intake is a major concern in this respect, as new drugs are constantly being added to the list of factors that may influence the course of the disease. We report a patient with a psoriasiform drug eruption associated with the use of sodiumvalproate. Physicians should be aware of this type of reaction. Early detection of these cases has practical importance since the identification and elimination of the causative drug are essential for therapy success. [ABSTRACT FROM AUTHOR]

Published
2013
Full Text
View/download PDF

31. A Case with Recurrent Facial Palsy: Melkersson-Rosenthal Syndrome

Author

fatma derya bulut, Mert, Gulen Gul, Incecik, Faruk, Herguner, Ozlem M., and Altunbasak, Sakir

Subjects
lcsh:R5-920, children, lcsh:R, Melkersson-Rosenthal sendromu,tekrarlayan fasiyal paralizi,çocuklar, Melkersson-Rosenthal syndrome,recurrent facial paralysis,children, lcsh:Medicine, Melkersson-Rosenthal syndrome, recurrent facial paralysis, lcsh:Medicine (General)
Abstract

Melkersson-Rosenthal syndrome (MRS) is a rare neuromucocutaneous syndrome characterized by recurrent facial paralysis, orofacial edema and fissured tongue. Oligosymptomatic and monosymptomatic forms are more common than the triad. The presence of two manifestations or one manifestation with granulomatous cheilitis in biopsy is sufficient to make diagnosis of Melkersson-Rosenthal syndrome. We present a 12 years-old male who is diagnosed Melkersson-Rosenthal syndrome., Melkersson-Rosenthal sendromu (MRS), tekrarlayan fasiyal paralizi, orofasiyal ödem, dilde fissürle karakterize nadir bir nöromukokütanöz sendromdur. Oligosemptomatik ve monosemptomatik olgular, klasik triaddan sık görülür. Bulguların ikisinin görülmesi veya bulguların biri ve biyopside granülomatöz keilitin varlığı Melkersson-Rosenthal sendromu tanısı için yeterlidir. Bu yazıda Melkersson-Rosenthal sendromu tanısı alan 12 yaşında bir erkek sunulmuştur.

32. Idiopathic Childhood Occipital Lobe Epilepsies in Turkish Children

Author

Incecik, Faruk, Herguner, Ozlem M., GULEN GUL MERT, Altunbasak, Sakir, and Çukurova Üniversitesi

Subjects
lcsh:R5-920, Idiopathic childhood occipital epilepsies,clinical findings,children, children, İdiopatik çocukluk çağı oksipital lob epilepsisi,klinik bulgular,çocuklar, lcsh:R, lcsh:Medicine, Idiopathic childhood occipital epilepsies, clinical findings, lcsh:Medicine (General), Cerrahi
Abstract

Purpose: Two forms of idiopathic occipital lobe epilepsy can be distinguished: an early onset or Panayiotopoulos type (PS), and a late onset or Gastaut type (GS). The aim of this study was to identify clinical manifestations and outcome in Turkish children with idiopathic occipital lobe epilepsy. Material and Methods: Thirty nine children (27 boys, 12 girls) were divided into the PS and GS type, according to the classification for epileptic seizures of the International League Against Epilepsy. Results: Among the 39 patients, 27 (69.3%) were boys and 12 (30.7%) were girls and the mean age at the seizure onset was 77.38 ± 27.33 months (36-145 months). The PS type patients consisted of 27 children (19 boys, 8 girls). The average age of seizure onset in PS type patients was 60.76 ± 14.21 months (range, 36-94 months). The GS type patients consisted of 12 children (8 boys, 4 girls), and seizure onset was 107.7 ± 18.8 months (range, 72-145 months). Ictal vomiting was more common in the PS type patients, and visual symptoms were more common in the GS type patients. We detected that after treatment, 27 patients (100%) in PS type and 10 patients (83.3%) in GS type became seizures-free. Two patients continued having seizures in GS type. Conclusions: The average age of seizure onset was much younger in the PS than in the GS. Also, in idiopathic occipital lobe epilepsy, the PS type has better seizure-free and prognosis than the GS., Amaç: İdiopatik çocukluk çağı oksipital lob epilepsisinin iki farklı tipi tanımlanmıştır: erken başlangıçlı veya Panayiotopoulos tip (PS) ve geç başlangıçlı Gastaut tip (GS). Bu çalışmanın amacı, idiopatik çocukluk çağı oksipital lop epilepsisi tanısı alan Türk çocuklarında klinik bulguları ve seyri ortaya koymaktır. Materyal ve Metod: Otuz dokuz çocuk (27 erkek, 12 kız), Uluslarası Epilepsi ile Savaş Derneği (İLAE) tarafından önerilen epileptik nöbet sınıflamasına göre PS ve GS tip olarak ayrıldı. Bulgular: Otuz dokuz hastanın, 27’si (69.3%) erkek ve 12’si (30.7%) kız idi ve ortalama nöbet başlangıç yaşı 77.38 ± 27.33 ay (36-145 ay) idi. Hastaların 27’si (19 erkek, 8 kız) PS tip idi. PS tip hastaların ortalama nöbet başlangıç yaşları 60.76 ± 14.21 ay (36-94 ay) idi. GS tip 12 hastanın (8 erkek, 4 kız) idi ve nöbet başlangıç yaşı 107.7 ± 18.8 ay (72-145 ay) idi. PS tip hastalarda iktal kusma ve GS tip hastalarda vizüel semptomlar daha sıktı. Tedavi sonrası PS tip hastaların 27’si (100%), GS tip hastaların 10’u (83.3%) nöbetsiz duruma gelmişti. GS tip hastalardan ikisinin nöbetleri devam ediyordu. Sonuç: Nöbet başlangıç yaşı ortalaması PS tipte, GS tipe göre daha erkendir. Ayrıca idiopatik çocukluk çağı oksipital lop epilepsisi olan, PS tipinin prognozu ve nöbetsizlik durumu, GS tipine göre daha iyidir.

Catalog

Books, media, physical & digital resources
See catalog results