Effectiveness Oral Theophylline, Piracetam, and Iron Treatments in Children With Simple Breath-Holding Spells.

Breath-holding spells (BHS) are common nonepileptic paroxysmal events in children. This is a retrospective study to compare the effectiveness of oral theophylline, piracetam, and iron treatments in children with simple BHS. A total of 146 children (75 girls and 71 boys) with simple BHS were included to this retrospective study. Children were divided into 4 groups: nontreated (no anemia and no treatment), oral theophylline (10 mg/kg/d as a single daily dose), piracetam (40 mg/kg/d in 2 divided doses), and elementary iron (3 mg/kg/d as a single daily dose) treatments. Iron therapy had been given only in children with iron deficiency anemia. Neurologic, cardiologic, and biochemical evaluations were performed for all children. The majority of the patients had cyanotic spells (83.6%). The frequency of attacks/month was markedly decreased with iron (58.8%) and theophylline (82.9%) treatments, but not with piracetam therapy (8.8%) and nontreated group (4.7%). Satisfaction of the parents/caregivers was found to be high in the theophylline group (P < .001). Our results showed that theophylline was the most effective therapy to decrease the frequency of simple BHS in children.

Asian Study of Cerebral Venous Thrombosis.

BACKGROUND/OBJECTIVE: Most of the studies and registries related to cerebral venous thrombosis (CVT) are reported from European countries and the United States. The objective of the present study is to identify risk factors, presentation, and outcome of CVT in Asian patients. METHODS: Asian CVT registry is a prospective multinational observational study that included patients (aged > 16 years) with symptomatic CVT. RESULTS: Eight hundred and twelve patients (59% women) from 20 centers in 9 Asian countries were included. Mean age of the patients was 31 years. Motor weakness in limbs was present in 325 (40%) patients. One hundred and eighty (22.1%) patients had a normal Glasgow coma scale (GCS) at presentation, and another 529 patients (65%) had GCS between 11 and 14. The rest (103; 13%) had a GCS of less than 10 at presentation. Permanent risk factors were present in 264 (33%) patients, transient in 342 (42%) patients, both in 43 (5%) patients and no risk factors were found in 163 (20%) patients. Anemia was present in 51%, use of oral contraceptive pills (OCP) was present in 12% women and a hypercoaguable state was present in more than 40% of those tested. One hundred and forty-three cases (18%) were in women who were either pregnant (18; 2%) or in the puerperium (up to 6 weeks postpartum; N = 125; 15%). A total of 86 (10.5%) patients were diagnosed with infection in any part of the body. The most common MRI finding was local brain edema or ischemia (53.3%) followed by hemorrhage (26.7%). Twenty-seven patients (3.3%) died during hospital stay. The mRS score at discharge was available for 661 (81%) patients. Of these, 577 (87.3%) had good functional outcome at discharge. Motor weakness at presentation, GCS of 9 or less and mental status disorder were the strongest independent predictors of mortality at last follow-up among patients with CVT. CONCLUSIONS: Important differences were identified as compared to western data including younger age, high frequency of anemia, low use of OCP, and high frequency of hypercoaguable states. Functional outcome at discharge was good.

Efficacy of stem cell therapy in ambulatory and nonambulatory children with Duchenne muscular dystrophy - Phase I-II.

PURPOSE: Duchenne muscular dystrophy (DMD) is an X-linked recessive pediatric disorder that ultimately leads to progressive muscle degeneration. It has been known that cell-based therapies were used to promote muscle regeneration. The main purpose of this study was to investigate the effects of allogeneic Wharton jelly-derived mesenchymal stem cells therapy in Duchenne muscular dystrophy. PATIENTS AND METHODS: Four ambulatory and five nonambulatory male patients were assessed as having acceptance criteria. Gene expression and immunohistochemical analysis were performed for dystrophin gene expression. The fluorescent in situ hybridization method was used for detection of chimerism and donor-recipient compatibility. Complement dependent lymphocytotoxic crossmatch test and detection of panel reactive antigen were performed. All patients were treated with 2 × 106 cells/kg dose of allogeneic Wharton jelly-derived mesenchymal stem cells via intra-arterial and intramuscular administration. Stability was maintained in patient follow-up tests, which are respiratory capacity tests, cardiac measurements, and muscle strength tests. RESULTS: The vastus intermedius muscle was observed in one patient with MRI. Chimerism was detected by fluorescent in situ hybridization and mean gene expression was increased to 3.3-fold. An increase in muscle strength measurements and pulmonary function tests was detected. Additionally, we observed two of nine patients with positive panel reactive antigen result. CONCLUSION: All our procedures are well tolerated, and we have not seen any application-related complications so far. Our main purpose of this study was to investigate the effects of allogeneic mesenchymal stem cell therapy and determine its suitability and safety as a form of treatment in this untreatable disorder.

Association of Neutrophil/Lymphocyte Ratio With Intravenous Immunoglobulin Treatment in Children With Guillain-Barré Syndrome.

Guillain-Barré syndrome (GBS) is an acute immune-mediated inflammatory polyneuropathy of the peripheral nervous system. The authors aimed to investigate whether the neutrophil/lymphocyte (N/L) and platelet/lymphocyte (P/L) ratios are the parameters that associated with the drug treatment or severity of GBS. Twenty-seven children with GBS were retrospectively analyzed from the medical records of patients who attended to the Pediatric Neurology Department of the Gaziantep University Hospital. Biochemical and hematologic parameters were measured. Leukocytes, neutrophils counts and N/L ratio were significantly higher before the intravenous immunoglobulin treatment ( P < .001). However, there were no marked differences in platelet count and P/L ratio. In addition, marked correlation was observed between the N/L ratio after treatment and duration of weakness. The results of the study showed that N/L ratio is significantly higher in GBS patients, and reduces following with intravenous immunoglobulin treatment.

Serial Casting as an Adjunct to Botulinum Toxin Type A Treatment in Children With Cerebral Palsy and Spastic Paraparesis With Scissoring of the Lower Extremities.

The purpose of this study was to examine whether combination therapy of serial casting and botulinum toxin type A injection can further enhance the effects of botulinum toxin type A in children with cerebral palsy with scissoring of both legs. This study was a prospective and randomized trial. The children were divided into 2 groups, one of which received serial casting after botulinum toxin type A (n = 40), and the other which only received botulinum toxin type A (n = 40). Serial casting started 3 weeks after the botulinum toxin type A. Both groups received physiotherapy. Groups were assessed at baseline then compared at 6 and 12 weeks following the intervention. Significant improvements in Gross Motor Function Measure-66 and Caregiver Health Questionnaire were recorded in both groups ( P < .001). The modified Ashworth scale improved significantly following botulinum toxin type A in the serial casting group ( P < .05), but not in botulinum toxin type A only group. These results suggest that serial casting after botulinum toxin type A can enhance the benefits of botulinum toxin type A in children with cerebral palsy.

The Clinical Implications of Todd Paralysis in Children With Benign Rolandic Epilepsy.

The aim of this study was to describe the clinical and electroencephalographic (EEG) findings of postictal Todd paralysis in benign rolandic epilepsy of childhood and find out the possible correlation with migraine. Based on International Headache Society pediatric migraine criteria, patients were investigated for migraine, and 12 of the 108 patients with benign rolandic epilepsy (6 girls and 6 boys, 11.1%) were found to have postictal Todd paralysis. Ten of these 12 patients (83.3%) had pediatric migraine based on the diagnostic criteria. We showed comorbidity of migraine and benign rolandic epilepsy with postictal Todd paralysis in children. Increased incidence of migraine in the present study suggest that children who have benign rolandic epilepsy and postictal Todd paralysis are more likely to have migraines.

Comparison of Efficacy and Side Effects of Oral Baclofen Versus Tizanidine Therapy with Adjuvant Botulinum Toxin Type A in Children With Cerebral Palsy and Spastic Equinus Foot Deformity.

This retrospective study aimed to compare the therapeutic response, including side effects, for oral baclofen versus oral tizanidine therapy with adjuvant botulinum toxin type A in a group of 64 pediatric patients diagnosed with static encephalopathy and spastic equinus foot deformity. Following botulinum toxin A treatment, clinical improvement led to the gradual reduction of baclofen or tizanidine dosing to one-third of the former dose. Gross Motor Functional Measure and Caregiver Health Questionnaire scores were markedly elevated post-botulinum toxin A treatment, with scores for the tizanidine (Gross Motor Functional Measure: 74.45 ± 3.72; Caregiver Health Questionnaire: 72.43 ± 4.29) group significantly higher than for the baclofen group (Gross Motor Functional Measure: 68.23 ± 2.66; Caregiver Health Questionnaire: 67.53 ± 2.67, P < .001). These findings suggest that the combined use of botulinum toxin A and a low dose of tizanidine in treating children with cerebral palsy appears to be more effective and has fewer side effects versus baclofen with adjuvant botulinum toxin A.

Maternal Iron Deficiency Anemia as a Risk Factor for the Development of Retinopathy of Prematurity.

BACKGROUND: Retinopathy of prematurity is a proliferative vascular disease affecting premature newborns and occurs during vessel development and maturation. The aim of this study was to evaluate the maternal iron deficiency anemia as possible risk factors associated with the development of retinopathy of prematurity among premature or very low birth weight infants. METHODS: In this study, mothers of 254 infants with retinopathy of prematurity were analyzed retrospectively, and their laboratory results of medical records during pregnancy were reviewed for possible iron deficiency anemia. RESULTS: In a cohort of 254 mothers of premature infants with retinopathy of prematurity, 187 (73.6%) had iron deficiency, while the remaining 67 (26.4%) mothers had no deficiency. Babies born to mothers with iron deficiency anemia with markedly decreased hemoglobin, hematocrit, mean corpuscular volume, serum iron, and ferritin levels were more likely to develop retinopathy of prematurity. CONCLUSIONS: Our results are the first to suggest that maternal iron deficiency is a risk factor for the development of retinopathy of prematurity. Our data suggest that maternal iron supplementation therapy during pregnancy might lower the risk of retinopathy of prematurity.

Occurrence of Hashimoto's thyroiditis among the patients with Sydenham's chorea.

AIM: The purpose of this study was to examine the possible association of Hashimoto's thyroiditis (HT) with Sydenham's chorea (SC). MATERIALS AND METHODS: A total of 25 SC patients and 25 patients with the diagnosis of HT were included in the study. Neurological, cardiac, radiological abnormalities, clinical findings, and biochemical analysis were evaluated. RESULTS: Heart murmur as a result of mitral valve deformation was present in all SC group patients. No neurologic and cardiac abnormalities were noted in HT group. Serum thyroid-stimulating hormone (TSH), anti-thyroid peroxidase, and anti-thyroglobulin levels were found to be high in 4 patients of the SC group and called as SC with HT group. Significant elevation of serum TSH levels in SC with HT group (31.75 ± 3.71 µU/ml) was observed when compared to HT group (12.60 ± 4.24 µU/ml, p < 0.05). CONCLUSION: These results showed that HT can be occurred among the patients with SC with cardiac involvement.

Contribution of KCNJ10 gene polymorphisms in childhood epilepsy.

The purpose of this study was to investigate the possible association between childhood epilepsy and KCNJ10 gene polymorphisms (rs61822012 and rs2486253). A total of 200 epileptic cases and 200 healthy controls enrolled to this study. Genomic DNAs from the patients and control cases were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism methods. There were significant associations between the G/T genotype of KCNJ10 gene rs2486253 polymorphism in the idiopathic generalized epilepsy group (P = .037) and in subjects with generalized tonic-clonic seizures (P = .0015). T allele was also increased in patients with generalized tonic-clonic seizures (P = .0158). However, no statistically significant association was found between rs61822012 polymorphism and epilepsy. Our data suggest that G/T genotype of the KCNJ10 gene rs2486253 polymorphism affects risk for development of common types of childhood epilepsy. The T allele of this polymorphism was found to be a seizure-susceptibility allele for tonic-clonic epilepsy.

Importance of hyperbilirubinemia in differentiation of primary and secondary hemophagocytic lymphohistiocytosis in pediatric cases.

BACKGROUND AND OBJECTIVE: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyper-inflammatory disease. It is difficult to differentiate between primary and secondary HLH based on clinical findings at the onset of disease. We aimed to find parameters that can help to differentiate primary and secondary HLH at initial diagnosis especially for physicians working in developing countries. PATIENT AND METHOD: We retrospectively analyzed data of 38 HLH patients who were admitted to the Pediatric Hematology Department of Gaziantep University between January 2009 and December 2013. RESULTS: Of 38 patients, 20 were defined as primary, and 18 were secondary HLH. The average age of primary and secondary HLH patients was 31±9 and 81±14 months, respectively (p=0.03). We found consanguinity rates significantly higher in primary HLH patients compared to secondary HLH patients (p=0.03). We found that total and direct bilirubin levels significantly increased in primary HLH patients compared to secondary HLH patients (p=0.006, p=0.044). Also, CRP levels were found markedly increased in secondary HLH patients compared to primary ones (p=0.017). CONCLUSION: We showed that cholestasis and hyperbilirubinemia findings of HLH patients at the initial diagnosis should be considered in favor of primary HLH, and an increased level of CRP should be considered in favor of secondary HLH.

Prevalence of resistant occipital lobe epilepsy associated with celiac disease in children.

PURPOSE: Celiac disease (CD) is a chronic, inflammatory autoimmune disorder caused by intolerance to ingested gluten. Increased frequency of CD has been reported in occipital lobe epilepsy. The aim of the present study is to investigate the frequency of CD among children followed up due to epilepsy and diagnosed with epileptic activity in the occipital lobe in at least one electroencephalography (EEG) test. METHODS: For this research, 90 pediatric epilepsy patients with epileptic activity in the occipital lobe were enrolled in the study group, while the control group comprised of 100 healthy children. In addition to the EEG examination, tissue transglutaminase (tTG) antibody was determined on duodenal biopsy. RESULTS: None of the healthy children in the control group was positive in terms of the tTG antibody test used to scan CD. In the group with epileptic activity in the occipital lobe, two patients out of 90 were tTG antibody positive. The seroprevalence was 1/45 (2.22 %) in this group. These two patients were diagnosed with CD based on the endoscopic duodenal biopsy. In these patients, the seizures were uncontrollable through monotherapy. CONCLUSIONS: Our results showed that the prevalence of CD is observed to be higher than the normal population among the patients with occipital lobe epilepsy. This type of seizure disorder seems to be more resistant to monotherapy, compared with other types of occipital epilepsy. Therefore, screening for CD is recommended in children with resistant epileptic activity in the occipital lobe.

Pregnancy and puerperium-related strokes in Asian women.

BACKGROUND: Despite an increased risk of stroke in pregnancy and puerperium, the overall incidence of the condition in this population is low. Therefore, there is limited data pertaining to these patients particularly from Asian countries. Our objective was to describe the risk factors and outcomes of 110 pregnancy-related ischemic strokes from 5 Asian countries. METHODS: Data were collected by retrospective chart review in most cases and prospectively in the rest. Inclusion criteria for this subanalysis were women, pregnant or within 1-month postpartum, presenting to the study center with acute ischemic stroke (arterial or venous) confirmed by neuroimaging. Intracranial hemorrhages other than the ones associated with cerebral venous thrombosis or hemorrhagic infarct were excluded. Risk factors were diagnosed based on already published criteria. Outcomes were measured using modified Rankin score. Statistical analysis was done using Statistical Package for Social Sciences version 19.0. RESULTS: In all, 110 women with mean age of 27.94 years presented with pregnancy-related ischemic strokes; 58.2% of the strokes occurred postpartum and 49.1% were secondary to cerebral venous thrombosis. Venous strokes were significantly more likely to occur postpartum compared with arterial strokes (P=.01), to have abnormal "hypercoagulable panel result on admission" (P<.001), less likely to have traditional stroke risk factors (P<.001), to have hemorrhagic conversion of stroke (P<.001), and to have lesser stroke severity and better functional outcome at 3 months (P<.001 for each). CONCLUSION: Cerebral venous thrombosis is a significant contributor to pregnancy-related strokes in Asian women. Both traditional and pregnancy-specific risk factors should be addressed to control ischemic stroke risk in these women.

Prevalence and clinical significance of antithyroid antibodies in children with immune thrombocytopenic purpura.

BACKGROUND AND OBJECTIVE: To determine the prevalence and the clinical significance of thyroid autoantibodies and their influence on treatment response in children with idiopathic thrombocytopenic purpura (ITP). PATIENT AND METHOD: We retrospectively analyzed the antithyroglobulin (anti-TG) and antithyroid peroxidase (anti-TPO) antibodies from the records of 151 ITP patients who were admitted to the Pediatric Hematology Department of Gaziantep University between 2009 and 2012. RESULTS: Anti-TPO and/or anti-TG was found positive in 38 (36.8%) of 103 patients whose thyroid autoantibody levels were measured. The comparison of positivity ratios of autoantibodies between acute and chronic ITP patients showed no significant difference. However, the separate comparison of each group of ITP patients with control group showed significantly high positivity ratios of autoantibodies in ITP patients. The initial mean platelet count of anti-TPO positive patients at diagnosis was significantly less than that of the negative patients (P = .008). One month after treatment, platelet count of anti-TPO positive patients was significantly less than that of the negative patients (P = .01). Moreover, the mean platelet counts of anti-TPO positive patients were significantly less than those of the negative patients after intravenous immunoglobulin treatment (P < .001). CONCLUSION: We demonstrated that the thyroid-autoimmune-diseases-related autoantibodies are frequently found in childhood ITP. Although no recommendation is found in international guidelines regarding screening for thyroid autoantibodies in patients with ITP, in view of the high incidence of antithyroid antibodies and their potential negative effect on treatment response, screening these patients for such antibodies would be recommended.

Thiamine-responsive megaloblastic anemia syndrome.

Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of disease is usually seen during infancy or at early childhood and most of the TRMA patients are originated from consanguineous families. In this case, we report a 5-month-old boy who had diagnosis of TRMA during evaluations for his anemia and thrombocytopenia. The diagnosis of TRMA should be kept in mind in differential diagnosis of megaloblastic anemia especially in the populations where the consanguinity is frequent.

Ischemic stroke in young Asian women: risk factors, subtypes and outcome.

BACKGROUND AND OBJECTIVE: The objective of our study was to describe risk factors, mechanisms and outcome of young Asian women with ischemic stroke. METHODS: Twelve tertiary-care centers in 8 Asian countries participated. Women aged 15-45 years were included if they had an ischemic stroke supported by neuroimaging. Data on age, risk factor history, stroke mechanism and discharge status were collected. RESULTS: A total of 958 subjects were included, their mean age was 34 years. Large-vessel thrombosis comprised 24%, cerebral venous thrombosis 21%, cardioembolism 19% and small-vessel thrombosis 15%. The stroke risk factors included hypertension (29%), diabetes (14%), pregnancy (11%), valvular heart disease (10%) and cigarette smoking (3%). Anemia was found in 42%, and mortality was 4%; at discharge, 17% had modified Rankin score (mRS) >4 and 83% mRS 0-3. CONCLUSION: Unlike among Caucasians, large-vessel thrombosis, cerebral venous thrombosis and cardioembolism are common among young Asian women with stroke. A high proportion are pregnancy-related. More studies are needed.

Headache in Cerebral Venous Thrombosis: incidence, pattern and location in 200 consecutive patients.

We analyzed the incidence, pattern and location of headache in consecutive 200 patients with proven diagnosis of CVT to identify an association between localization of headache and site of sinus involvement. Headache was present in 136 (68%) patients. The duration of headache (reported in 128 patients) was reported as acute (1-3 days), 81 patients (60%); sub-acute (4-14 days), 33 patients (24%); and chronic (more than 14 days), 14 patients (10%). The quality of headache (reported in 72 patients) was reported as throbbing 12 (9%), band like 27 (20%), thunderclap 7 (5%), and other (pounding, exploding, stabbing, etc.) 26 (20%). The location of headache (reported in 101 patients) was reported as unilateral (one side of head) 48 (37%), localized (frontal, temporal, occipital, and neck) 25 (19%), and diffuse (whole head) 28 (20%). 43 (32%) patients had normal neurological examination (normal mental status, cranial nerves, motor and sensory examination with down going planters). 93 (68%) patients have abnormal findings on neurological examination including papilledema 29 (15%) patients, altered mental status 38 (19%), and focal neurological deficit 45 (22%) patients. There was no association between headache and presence of hemorrhage on CT and MRI (P = 0.1) or hydrocephalus (P = 0.09). There was no association between localization of headache and site of sinus thrombosis except sigmoid sinus thrombosis, where 17 out of 28 patients with involvement of sigmoid sinus alone or in combination with transverse sinus had pain in the occipital and neck region (P < 0.05). There was no association between lateralization of pain and site of thrombosis (P = 0.66).

Study: the lack of significant association of the catechol-O-methyl transferase (COMT) gene polymorphism in violent offenders with mental retardation.

Little is known about criminality of cognitively impaired people and also there have been no reports on the relationship between catechol-O-methyl transferase (COMT) and committed Mental Retardation (MR) subjects. In the present study, the association between committed (violent offences) MR subjects and genetic variants of COMT were investigated by using polymerase chain reaction and based restriction fragment length polymorphism methods. During 6 years of follow-up, 36 violent offenders with mild MR were investigated. Thirty-six control volunteers were included in the study as a control group. H/L polymorphism of the COMT gene was investigated in these two groups. In conclusion, the COMT gene genotype distribution and allele frequency is not significantly different between the two groups (p > 0.05). This result suggests that the H/L polymorphism of the COMT gene does not show an association with the potential of "commits-violent offense" of Turkish subjects with mental retardation, compared with control group.