Neurološki simptomi nedostatka vitamina B12: analiza pedijatrijskih bolesnika

Vitamin B12 is one of the essential vitamins that affect various systems in the body, including the central nervous system. Vitamin B12 plays an important part in the metabolism of the nervous system, although its exact role under pathological conditions is not fully understood. The purpose of this study was to emphasize the importance of early diagnosis of vitamin B12 deficiency in the light of the characteristics of the patients enrolled. This retrospective, clinical study included 38 children with neurological symptoms of vitamin B12 deficiency. Records of 38 patients referred to a single center of the university hospital outpatient child neurology clinic due to neurological symptoms of vitamin B12 deficiency between February 2012 and December 2013 were evaluated retrospectively. Patients aged 0-18 years with symptoms including syncope, dizziness, convulsion, hypotonia, developmental retardation, tremor, ataxia, tingling sensations and paresthesia, blurring of vision, fatigue and concentration difficulty caused by vitamin B12 deficiency were included in the study. Patient neurological findings included syncope (n=6), dizziness (n=4), hypotonia (n=9), inability to sit or walk without support, or gait ataxia (n=2), convulsion (n=4), hand tremor (n=1), tingling sensations and paresthesia (n=3), vision blurring (n=1), fatigue and concentration difficulty (n=8). All patients with neurological symptoms of vitamin B12 deficiency recovered within one month after vitamin B12 supplementation. In conclusion, clinical characteristics of vitamin B12 deficiency are broad and nonspecific and may not be associated with anemia and increased mean corpuscular volume. Since different clinical characteristics can be seen without anemia, awareness and cautious approach are essential in order to avoid severe clinical disease, especially in children from underdeveloped countries.Vitamin B12 jedan je od ključnih vitamina koji utječe na razne sustave u organizmu uključujući središnji živčani sustav. Vitamin B12 ima važnu ulogu u metabolizmu živčanog sustava, iako njegova uloga u patološkim stanjima nije u potpunosti razjašnjena. Namjera ovoga istraživanja bila je naglasiti važnost rane dijagnoze nedostatka vitamina B12 u svjetlu karakteristika bolesnika uključenih u istraživanje. Ovo retrospektivno kliničko istraživanje uključilo je 38 djece s neurološkim simptomima nedostatka vitamina B12. Retrospektivno su analizirani podaci za 38 djece upućene u ambulantu za dječju neurologiju jedne sveučilišne bolnice zbog neuroloških simptoma nedostatka vitamina B12 između veljače 2012. i prosinca 2013. godine. Uključeni su bolesnici u dobi od 0 do 18 godina sa sljedećim simptomima uzrokovanim nedostatkom vitamina B12: sinkopa, vrtoglavica, konvulzije, hipotonija, zastoj u razvoju, tremor, ataksija, trnci i parestezije, zamagljen vid, umor i otežana koncentracija. U bolesnika su zabilježeni sljedeći neurološki nalazi: sinkopa (n=6), vrtoglavica (n=4), hipotonija (n=9), nemogućnost da sjedi ili hoda bez potpore, ili ataksija u hodu (n=2), konvulzije (n=4), tremor ruku (n=1), trnci i parestezija (n=3), zamagljen vid (n=1), umor i otežana koncentracija (n=8). Svi bolesnici s neurološkim simptomima nedostatka vitamina B12 oporavili su se kroz jedan mjesec nakon nadomještanja vitamina B12. U zaključku, kliničke značajke nedostatka vitamina B12 široke su i nespecifične te ne moraju biti udružene s anemijom i povećanim srednjim korpuskularnim volumenom. Kako se razne kliničke značajke mogu zapaziti bez anemije, svijest o ovom nedostatku i pažljiv pristup bitni su kako bi se izbjegla teška klinička bolest, poglavito u djece iz manje razvijenih zemalja

Cerebral Venous Sinus Thrombosis With Internal Jugular Venous Thrombosis In A Male Patient With Nephrotic Syndrome

Cerebral venous sinus thrombosis with internal jugular vein thrombosis is not reported as a complication in nephrotic syndrome. We report a 40-year-old male with nephrotic syndrome, who had headache during his hospitalization. Conventional diagnostic tests showed extensive thrombosis at the proximal part of superior sagittal sinus, left cortical vein, left sigmoid-transverse sinus and left internal jugular vein. The patient underwent medical treatment and was discharged in good health after 2 weeks. The aim of this study is to report a novel case of cerebral venous sinus thrombosis with internal jugular venous thrombosis in a male patient with nephrotic syndrome.WoSScopu

A Case of Neurocutaneous Melanosis and Neuroimaging Findings

Scopu

Assessment of dietary intakes in children with neurological dysphagia

Amaç: Çalışmanın amacı nörolojik yutma bozukluğu olan çocukların beslenme şekli ile enerji, makro ve mikro besin ögesi alım durumlarını değerlendirmektir. Bireyler ve Yöntem: Hacettepe Üniversitesi Tıp Fakültesi Pediatrik Nöroloji Bilim Dalı izleminde yutma bozukluğu tanısı almış 1-10 yaş arası nörolojik hastalığı olan 96 çocuk hasta çalışmaya alınmıştır. Hastaların genel bilgileri, beslenme şekli ve 24 saatlik besin tüketim kayıtları alınarak antropometrik ölçümleri yapılmıştır. WHO 2006 ve WHO 2007 büyüme standartlarına göre, yaşa göre vücut ağırlığı Z skor değeri -2SD altında olanlar malnütrisyonlu olarak kabul edilmiştir. Besin tüketimleri ve kullandıkları beslenme destek ürünleri BeBİS 7.2 programı kullanılarak analiz edilmiştir. Günlük alınan enerji ve besin ögeleri,“Türkiye’ye Özgü Beslenme Rehberi”nde belirtilen yaş grubuna göre önerilen miktarlar ile karşılaştırılarak yeterlilik düzeylerine bakılmıştır. Bulgular: Hastaların yaş ortalaması 3.8±2.4 yıldır (1-9.4 yıl). Çalışmada yer alan 96 hastanın %56.2’si erkek, %43.8’i kızdır ve çocukların %50’si malnütrisyonludur. Çocuklar beslenme tipine göre yalnızca oral, hem oral hem enteral ve yalnızca enteral yol ile beslenenler şeklinde 3 gruba ayrılmıştır. Bu gruplamaya göre hastaların %43.7’si yalnızca oral, %14.6’sı hem oral hem enteral, %41.7’si ise yalnızca enteral yolla beslenmektedir. Hastaların beslenme destek ürünü kullanma oranı ise %69.8’dir. Araştırmada yer alan erkek çocukların günlük alması gereken enerjinin %70.4’ünü, kız çocukların ise %61.6’sını karşıladığı saptanmıştır (p>0.05). Erkek çocukların günlük protein gereksinimlerinin %145.3’ünü, kız çocukların ise %127.9’unu karşıladığı sonucuna varılmıştır (p>0.05). Günlük posa alımı için ise çocukların gereksinmenin %23.3’ünü karşıladığı saptanmıştır. Sonuç: Büyüme gelişme döneminde besin ögesi ihtiyacındaki artış ve uygun besin ögelerini sağlama konusunda sorun yaşamaları nedeniyle nörolojik yutma bozukluğu olan çocuklar malnütrisyon riski altındadır.Aim: The aim of this study was to evaluate feeding type, energy, macronutrients and micronutrients intake of children with neurological dysphagia. Subjects and Methods: A total of 96 children aged 1 to 10 years followed by Hacettepe University Faculty of Medicine, Department of Pediatric Neurology with a diagnosis of dysphagia related to their neurological disorder were included. General information about the children, feeding methods and 24-hour dietary recalls were obtained, anthropometric measurements were evaluated. According to the WHO 2006 and WHO 2007 Growth Standards, patients whose weight-for-age Z score values under -2 SD were determined to be underweight. Food consumption and nutritional support formulas intake were analyzed by using BeBİS 7.2 programme. Adequacy of age specific recommended intakes of energy and nutrients were evaluated according to “Dietary Guidelines for Turkey.” Results: The mean age was 3.8±2.4 years (1-9.4 years). Out of 96 patients examined, 56.2% were boys and 43.8% were girls and 50% of children were underweight. When children were classified into 3 groups according to their feeding type; it was shown that 43.7% of patients were orally fed, 14.6% were both orally and tube fed, 41.7% were only tube fed. The ratio of using nutritional support formula was found as 69.8%. In this study, boys consumed 70.4% and girls consumed 61.6% of recommended daily energy intake (p>0.05). It was also found that boys consumed 145.3% and girls 127.9% of recommended daily protein intake (p>0.05). In addition, it was determined that children consumed %23.3 of recommended daily fiber intake. Conclusion: Due to increase in nutritional requirements during growth and development period and also having difficulties providing adequate nutrients, dysphagic children are under the risk of malnutrition

Age- and gender-related radiological changes of the cervical spine: A study with largest magnetic resonance imaging database of 5672 consecutive patients

Background: The morphological features of the cervical spine are an essential issue. This retrospective study aimed to investigate the structural and radiological changes in the cervical spine. Materials and Methods: A total of 250 patients with neck pain but no apparent cervical pathology were selected from a database of 5672 consecutive patients undergoing magnetic resonance imaging (MRI). MRIs were directly examined for cervical disc degeneration. These include Pfirrmann grade (Pg/C), cervical lordosis angle (A/CL), Atlantodental distance (ADD), the thickness of transverse ligament (T/TL), and position of cerebellar tonsils (P/CT). The measurements were taken at the positions of T1- and T2-weighted sagittal and axial MRIs. To evaluate the results, patients were divided into seven age groups (10–19, 20–29, 30–39, 40–49, 50–59, 60–69, 70, and over). Results: In terms of ADD (mm), T/TL (mm), and P/CT (mm), there was no significant difference among age groups (P > 0.05). However, in terms of A/CL (degree) values, a statistically significant difference was observed among age groups (P < 0.05). Conclusions: Intervertebral disc degeneration was more severe in males than in females as age increased. For both genders, cervical lordosis, decreased significantly as age increased. T/TL, ADD, and P/CT did not significantly differ with age. The present study indicates that structural and radiological changes are possible reasons for cervical pain at advanced ages

SUDEP: Türkiye’de İlk Olgu Serisi

Introduction: Sudden unexpected death in epilepsy (SUDEP) is defined as the sudden, unexpected, witnessed or unwitnessed, non-traumatic, and non-drowning death of patients with epilepsy with or without evidence of a seizure, excluding documented status epilepticus, and in whom postmortem examinations do not reveal a toxicological or anatomic cause for death. In this study, data on patients who passed away under observation in the epilepsy clinic due to sudden, unexpected death have been compiled, and we also aim to emphasize the importance of SUDEP in Turkey. Methods: This study was performed with a total of nine cases. Data were obtained from hospital records, information given by the families of patients, the database of the General Directorate for Civil Services of the Ministry of Internal Affairs of Turkey, and from the Ankara Metropolitan Municipality Cemetery Information System. As the basis of classification and definition, the proposals suggested by Nashef et al., which were made to the International League Against Epilepsy (ILAE) in 2011, were taken into consideration. Results: Eight of the patients were classified as probable SUDEP and one of them as possible SUDEP; the mean age at SUDEP was 33 years, and the average follow-up period was 19.7 years. In these cases, except for known risk factors (generalized tonic-clonic seizures, nocturnal seizures, severe epilepsy, more frequent seizures, younger age at the onset of epilepsy, unwitnessed seizures, polytherapy, and mental handicap), a different risk factor was not identified Conclusion: This study is the first case series on SUDEP in Turkey. Postmortem studies are the most important shortcoming of the study. However, the importance of the topic is highlighted by presenting the available data. SUDEP deserves more attention during the daily practice of neurologists, pediatric neurologists, forensic physicians, and family physicians. If death is sudden and unexpected in a patient with epilepsy, SUDEP should be considered, regardless of the clear causes of death.Wo

Changes in Serum Valproate and Levetiracetam Levels Related to Sex Steroids in Adolescent Girls

WOS: 000472985200014PubMed: 31023605[No abstract available]Scientific Research Fund of Karadeniz Technical UniversityApplication will be made to Scientific Research Fund of Karadeniz Technical University

The importance of hyponatremia in febrile seizure

Febril nöbet çocukluk çağında en sık görülen nörolojik durumdur. Basit, komplike ve febril status olarak görülür. Uzamış febril nöbet ve komplike febril nöbet başta olmak üzere beyinde hasarlanmalar yaratır ve elektrolit bozuklukları bu durumun ağırlaşmasına ve nöbet tekrarlamasına neden olabilir. 2014- 2018 yılları arasında çocuk bölümüne başvuran toplam 6-72 ay arası 537 çocuk (273 çocuk febril nöbet; 264 çocuk ise nöbet olmadan ateş) çalışmaya dahil edildi. Hastalar iki gruba; basit febril nöbet (BFN) ve komplike febril nöbet (KFN) olarak ayrıldı. tek nöbet 15 dakikanın altında fokalite göstermeyen; KFN ise >15 dakika ve fokalite gösteren 24 saat içinde birden çok kez tekrarlayan nöbet olarak alındı. Febril nöbetle başvuru anında elektrolit değerleri venöz kan örnekleri ile değerlendirildi. BULGULAR: : Hastaların yaştan ve cinsiyetten bağımsız olarak lojistik regresyon analizi yapıldığında sodyum değeri 15 minutes and 24 hours with focal. Electrolyte values were evaluated with venous blood samples at admission with febrile seizures When logistic regression analysis was performed, regardless of age and gender, patients with sodium values <134.5 were found to be 10.13 times more risky for febrile seizures than those with sodium values <134.5. There was no significant relationship between serum potassium and calcium levels. 66.3% of patients with febrile seizures and 64% of patients with CFN had a sodium value below 134.5 mmol / L. The sensitivity and specificity for crosstabs sodium were 66.3% and 83.7%, and the positive predictive value was 80.8% and 70.6%, respectively. Seizure frequency of patients with moderate hyponatremia (132-133) was proportional to increase in seizure frequency compared to other sodium levels (r = 0.389, r = 0.434, p <0.05). In this study; We showed that sodium levels decreased significantly in febrile seizure, low sodium was significant in children with complex febrile seizures and it was a determining risk factor for recurrence of seizures

Biological therapy management from the initial selection of biologics to switching between biologics in severe asthma

The aim of this review is to elaborate the management of biologic therapy from initial selection to switching biologics in severe asthma. A nonsystematic review was performed for biological therapy management in severe asthma. Depending on clinical characteristics and biomarkers, selecting the preferred biologic based on super-responder criteria from previous studies may result in adequate clinical efficacy in most patients. On the other hand, no matter how carefully the choice is made, in some patients, it may be necessary to discon- tinue the drug due to suboptimal clinical response or even no response. This may result in the need to switch to a different biological therapy. How long the biological treatment of patients whose asthma is controlled with biologics will be continued and according to which criteria they will be terminated remains unclear. It has been shown that in patients with a long history of good response to biologics, asthma control may be impaired when biologics are discontinued, while it may persist in others. Therefore, discontinuation of biologics may be a viable strategy in a particular patient group. Clinicians should make the best use of all predictive factors to identify patients who will most benefit from each biologic. Patients who do not meet a predefined res- ponse criterion after sufficient time for response evaluation and who are eli- gible for one or more alternative biological agents should be offered the opportunity to switch to another biologic. There is no consensus on when the biologics used in severe asthma that produce favorable results should be dis- continued. In our opinion, treatment should continue for at least five years, as premature termination may potentially deteriorate asthma control

Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders

Abstract Background Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes. It also contributes to the identification of genes that are responsible for the phenotypes in the new copy number variations. Results Chromosomal microarray analysis was conducted on 124 patients with intellectual disability and global developmental delay. Multiplex ligation-dependent probe amplification was used for the confirmation of chromosome 22q11.2 deletion/duplication. 26 pathogenic and likely pathogenic copy number variations were detected in 23 patients (18.55%) in a group of 124 Turkish patients with intellectual disability and global developmental delay. Chromosomal microarray analysis revealed pathogenic de novo Copy number variations, such as a novel 2.9-Mb de novo deletion at 18q22 region with intellectual disability and autism spectrum disorder, and a 22q11.2 region homozygote duplication with new clinical features. Conclusion Our data expand the spectrum of 22q11.2 region mutations, reveal new loci responsible from autism spectrum disorder and provide new insights into the genotype–phenotype correlations of intellectual disability and global developmental delay