Investigation of platelet aggregation by impedance and optic methods in children with iron deficiency anaemia

Although it is known that platelet count is altered in iron deficiency anaemia (IDA), the qualitative extent of this interference is not well documented. In the present study we investigated platelet aggregation (PA) by impedance and optic methods in IDA. Forty-seven patients (plasma group: 16 boys, 9 girls and whole blood group: 11 boys, 11 girls) with IDA and thirty-one healthy children (plasma group: 6 boys, 10 girls and whole blood group: 6 boys, 9 girls) were enrolled into the study. Template bleeding times were measured by the Ivy method in all children. In the control group whole blood count, serum iron levels, bleeding time and PA were determined. After basal PA was determined in the patients and controls, ferrous sulphate was orally administered to the patients at a dose of 6 mg/kg/24 h for three months. Then, PA tests were performed again in the IDA (test group) patients. Ristocetin-induced PA was suppressed in both plasma and whole blood groups. Inhibition by both collagen (p < 0.05) and ristocetin (p < 0.001)-induced PA was determined by the optic method. Similarly in PA measured by the impedance method a suppression to adenosine diphosphate (p < 0.001) and to ristocetin (p < 0.01) was found. However, no significant alteration was observed in the bleeding time. All defective responses were reversed by the iron supplementation therapy. In addition, a significant correlation was found between some parameters of PA and several haematological values. In conclusion, although defective PA responses cannot be clinically demonstrated in patients with IDA, this suppression of PA may be detected by laboratory examination. Therefore, it is advised that care should be taken when using anti-aggregant agents in IDA

Mental retardation and fragil X syndrome [Mental retardasyon ve frajil X sendromu]

Fragile X syndrome is a genetic disorder with a semidominance of X chromosome due to mutation in fragile X mental retardation-1 gen (familial mental retardation-1 or FMR-1) which is characterized by learning, linguistic and memory problems due to temporal lobe dysfunction. Fragile X syndrome is the second common cause of mental retardation after Down syndrome. Fragile X syndrome constitues 1/3-1/4 of X linked mental retardation. Its incidence is 1/4000 in male, 1/6000 in female children. There is no difference between ethnic groups

Down syndrome [Down sendromu]

Down syndrome is a genetic disorder with an excess genetic material on 21th chromosome, mild mental retardation and anomalies of multiple organ systems. Physical and neurophysicological findings such as mental retardation, linguistic and memory problems accompany this syndrome. Neuroanatomical origins of this cognitive dysfunctions are not clear yet. The risk of Down syndrome differs with respect to races, and ethnic groups, maternal age distribution, prenatal diagnosis and cytogenetic analysis

Deneysel Olarak Oluşturulmuş Ekzojen Ateş, Hipertermi ve Buna Yönelik Kullanılan Bazı İlaçların Yavru Rat Beyni Üzerine Olan Etkilerinin Değerlendirilmesi

Objective: Hyperthermia may cause pathological changes in all systems and organs including the brain. Neuronal effects of exogenous fever (39&deg;C) and hyperthermia (41&deg;C), and efficacy of different medication modalities were studied in two-week-old infant female Wistar-Albino rats. Material and Method: Possible neuronal damage was evaluated by examining healthy, apoptotic and necrotic cells, and heat shock proteins (HSP, HSP 27 and HSP 70) in the cerebral cortex, cerebellum, and hypothalamus.Results: In both temperature groups, convulsion has been observed at different rates (25-37.5%). Three infant rats with convulsion in the group of 41 &deg;C temperature were &nbsp;died (n=3/9, 33.3%). At cellular level, when all neural&nbsp;tissues were taken into account; (i) considerable increase&nbsp;in number of necrotic neurons in both temperature groups&nbsp;(p=0.001, p=0.000), (ii) after 39&deg;C fever, a decrease in&nbsp;number of healthy cells by diclofenac medication (p=0.02),&nbsp;an increase in number of necrotic cells by dexamethasone&nbsp;(p=0.02) and diclofenac (p=0.005) medications, (iii) after&nbsp;41&deg;C hyperthermia, a decrease in number of necrotic&nbsp;cells by dexamethasone (p=0.000) and paracetamol&nbsp;medications (p=0.000) were observed. In the group of&nbsp;39&deg;C fever, all medications were ineffective in terms of the&nbsp;number of apoptotic cells (p&gt;0.05).&nbsp;Conclusion: In conclusion, results of the present study&nbsp;showed that neuronal tissue of various brain regions&nbsp;responded as different degree of damage or improvement&nbsp;to hyperthermic time course and applied medications. It&nbsp;was considered that these conflicting data might be due to&nbsp;the complexity of the brain.&nbsp;Key Words: Fever, hyperthermia, brain, neurons Nobel&nbsp;Med 2012; 8(3): 66-75</div

Elazığ Bölgesinde Mental Retardasyonlu Çocuklarda Sitogenetik İncelemeler

Frajil-X sendromu insanlarda kalıtsal zeka geriliğinin en sık nedenidir. Kalıtsal ve kalıtsal olmayan mental retardasyon (MR) nedenleri dikkate alındığında Down sendromundan sonra ikinci sırada gelmektedir. Bu çalışmanın amacı, MR ve konuşma güçlüğü bozukluğu olan vakalarda sitogenetik analizlerle diğer kromozomal anormallikler ve FRXS’unun insidansını ortaya koymaktır. Frajil-X tanısı sitogenetik olarak folattan fakir besiyeri kullanılarak elde edilen lenfosit kültürlerindeki metafaz kromozomları inceleyerek konulmaktadır. Bu çalışmada laboratuvarımıza Frajil-X açısından sitogenetik araştırma için yollanan MR’lu 72 olgu çalışıldı. Olguların hepsinde hem standart yöntemlerle hem de Frajil-X için folattan fakir besiyeri ile elde edilen metafazlarda kromozomlar değerlendirildi. Frajil-X için her olguda en az 100 metafaz değerlendirildi. 72 olgunun büyük bir çoğunluğu Fırat Üniversitesi Tıp Merkezi Nöroloji Anabilim Dalında değerlendirmeden geçmişti. Geliş yakınmaları içinde ilk iki sırayı MR ve konuşma güçlüğü alıyordu. Tüm olgular (72 olgu) içinde sitogenetik olarak 7 olguda (%9.5) FrajilX tanısı konuldu. Sonuç olarak, Frajil-X sıklığı MR’lu topluluklarda yapılan frajil tarama çalışmaları sonucu ile uygunluk gösterdi. Olguların sitogenetik çalışmaya alınmadan önce iyi bir klinik seçimden geçmelerinin uygun olacağı kanısına varıldı

Common Childhood Epilepsy Mimics

Unusual movements in children frequently generate concern of underlying seizures from parents and lead to professional review. Stigma associated with epilepsy heightens anxiety and a wish to confirm or exclude the diagnosis as soon as possible. These considerations could lead to a wrong diagnosis of epilepsy being given with unwarranted exposure to medications with potential side effects and cost burden to families. This chapter seeks to provide practitioners in pediatric epilepsy with an exploration of practical differential diagnoses for epilepsy in children, particularly for convulsive seizures. Evaluation of all epilepsy mimics requires a precise and relevant history to help arrive at a diagnosis. Epilepsy mimics across various ages will be reviewed, with the most common differential diagnoses presented first. Examples of common potential epilepsy mimics include benign sleep myoclonus, which is frequently observed in infants and may be a challenge to differentiate from myoclonic seizures in infants. It is a very common phenomenon in pre-term infants with an incidence of 57–132 per 1000 live births. Breath-holding spells among toddlers are common and may be mistaken for epilepsy, as can reflex anoxic seizures. Self-gratification phenomena have been observed from infancy onward and may resemble clonic seizures. Inattention in school-going children is a differential diagnosis for absence seizures and both conditions may co-exist. Stressed or traumatized children may present with non-epileptic psychogenic seizures, as can children with established seizures. Lack of concurrent electrophysiological correlates and absence of stereotypic presentation help differentiate inattention and non-epileptic seizures from childhood epilepsy. Sleep-related activity such as hallucinations, parasomnias, and hypnagogic jerks could also be mistaken for epilepsy in children. Video electroencephalogram (video-EEG) telemetry evaluation is invaluable in such cases. Lack of video-EEG services, simple videos, or EEG studies in resource-poor settings makes diagnosis of epilepsy imitators challenging. The differences between epilepsy and common differential diagnoses for practitioners in resource-limited settings who may lack access to requisite investigative tools will be addressed in the following text. The outcome for most epilepsy mimics is excellent with minimal morbidity and mortality. The potential danger posed by unnecessary medical interventions caused by misdiagnosis of epilepsy makes it imperative that this possibility is minimized