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Implications associated with existence record change level plasticity pertaining to child morphology along with locomotion inside the Túngara frog.
Sequencing of SH3TC2 gene showed SNP rs1025476 (g.57975C>T) in 21 (87.5%) patients, including 7 homozygous and 14 heterozygous individuals. Conclusion Despite the high rate of mutations in some populations, it seems that they are very rare in Iranian CMT4D patients. Regarding the association of SNP rs1025476 with CMT4D, further assessments are needed to reach a better understanding of genetic markers and their genetic features and to propose better diagnostic and treatment plans for the Iranian population.Acute necrotizing encephalopathy of childhood (ANEC) is a disease, characterized by a respiratory or gastrointestinal infection, accompanied with fever, rapid alteration of consciousness, and seizures. The clinical characteristics of ANEC include acute encephalopathy following a viral infection, seizure, altered consciousness, and absence of cerebrospinal fluid (CSF) pleocytosis, with an occasional increase in the level of proteins. This disease is almost exclusively seen in previously healthy infants and children from East Asia. Serial magnetic resonance imaging (MRI) examinations have demonstrated symmetric lesions involving the thalami, brainstem, cerebellum, and white matter. ANEC has a poor prognosis with high morbidity and mortality rates. Herein, we present three cases of ANEC, who were referred to Bu-Ali Hospital of Ardabil, Iran during two weeks. see more Report of these three cases promoted the idea of an epidemic. The purpose of this case series was to raise the issue that ANEC may occur as an epidemic.Objective Inborn errors of metabolism (IEM) are rare conditions, with an overall incidence of 1 per 1000 births. Approximately 40-60% of IEM cases present with epilepsy as one of the main clinical presentations of the disease. A substantial number of these patients require timely and accurate diagnosis, besides specific treatment to prevent the irreversible outcomes. Materials & Methods In this two-year retrospective study, a total of 128 patients with documented neurometabolic disorders were selected and evaluated in Mofid Children Hospital of Tehran, Iran, using a questionnaire to investigate the prevalence of epilepsy and seizure phenotypes. The collected data were evaluated in SPSS version 23. Results Seizure was reported in 49% (63/128) of the patients. A single episode of seizure occurred in 7 (7%) patients. The prevalence of epilepsy was estimated at 42% (54/128). The most common seizure types were generalized tonic-clonic (43%), tonic (22%), and myoclonic (10%), respectively. link2 Epilepsy was refractory in 30% (16/54) of the patients, and the mean number of administered anti-seizure drugs for refractory cases was 3.2. Overall, 50% of refractory cases had mixed-type seizures, and 25% had generalized tonic-clonic and myoclonic seizures. Conclusion Neurometabolic disorders are rare, but treatable causes of epilepsy. A considerable number of patients (42%) in the current study presented with epilepsy as a clinical feature of IEM.Objective This study aimed at comparing the effect of a newly approved drug leveitiracetam (LEV) versus carbamazepine (CBZ) in the treatment of childhood focal epilepsy. Methods & Materials The study population included newly diagnosed children with focal epilepsy (1-16 years old) referring to the Pediatric Neurology Ward of Quaem Hospital, Mashhad, Iran from May 2013 to March 2014. The subjects were randomly treated with LEV or CBZ. Patients were followed for seizure control and drug side effects throughout six months. We assessed liver function and complete blood count for all patients through one month and they were asked about significant side effects, such as drowsiness، restlessness, and skin reaction. Eventually, they were assigned in two groups (n=25) receiving LEV and CBZ. link3 Results In our study, two cases in the LEV group were excluded because of severe agitation. Relapsing seizures were observed in 3 (13%) and 10 (40%) patients in LEV and CBZ groups, respectively. The seizure was not repeated in 15 cases (60%) in the CBZ group and 20 cases (87%) in the LEV group. The results of the Chi-squared test showed significant differences in the responses to treatment between the groups (P=0.03). Agitation was the most prevalent complication in the LEV group, whereas drowsiness was more common in the CBZ group. Fortunately, liver enzyme dysfunction and blood cell disturbances were not observed in the subjects. Conclusion According to the findings, there were significant differences in controlling seizures between two groups that indicated the effectiveness of LEV (87%) in the suppression of focal seizure.Objectives People suffering from chronic diseases like epilepsy are highly prone to debilitating changes in factors that affect the quality of life (QOL) such as physical capacity, self-esteem, relationships with others and fulfillment of their daily life activities. This study attempted to evaluate QOL in children with epilepsy in Shiraz, Southern Iran. Materials & Methods Epileptic patients admitted at the epilepsy clinic of Shiraz University of Medical Sciences with no first time episode of seizures in the previous six months and no febrile-seizure were included in the study. The patients were evaluated using the standard KIDSCREEN-27 questionnaire. Data were analyzed using the statistical software SPSS 21 along with Man Whitney and Chi-square tests, and were reported in terms of descriptive statistics. The significance level was considered less than 0.05. Results In this case-control study, 229 children with epilepsy were compared with a control group of 400 normal individuals. The mean age was 12.44±3.16 and 12.10±2.69 years in the case and control groups, respectively. The tonic-clonic seizure had the highest prevalence. Moreover, male gender, older age and more seizures per year were associated with lower QOL. Overall, epileptic children had significantly lower QOL compared to the controls. Conclusion Epileptic children have an overall lower QOL while factors such as old age, male gender, and high number of seizures per year reduce QOL in epileptic patients.Objective The aim of this study was to test a model of child, family and environment and identify factors affecting the intensity of leisure participation by children with cerebral palsy (CP). Materials & Methods In this cross-sectional study, 232 children with cerebral palsy (141 boys and 91 girls), aged 6 to 14 years old and their parents were selected from four schools of children with special needs and five rehabilitation centers through the convenience sampling method in Shiraz, Iran. To evaluate the intensity of leisure participation, we used the Persian version of Children's Assessment of Participation and Enjoyment (CAPE) completed by the participants. Demographic form, Craig Hospital Inventory of Environmental Factors (CHIEF), Strengths and Difficulties Questionnaire (SDQ), Family Environmental Scale (FES), SPARCLE cognitive level and parents' version of Gross Motor Function Classification System, Manual Ability Classification System and Communication Function Classification System were sent to the pome and community indirectly impact children's participation pattern. To enhance children's participation, we suggest therapists to support children's behaviors, family relationships and involvement in community activities and optimize physical function of children with limitations in self-mobility.Objectives Dietary phenylalanine restriction is the main treatment of phenylketonuria (PKU, OMIM 261600). There are a number of studies which have demonstrated growth retardation in these patients, and some are in contrast. This study was performed to assess the growth parameters of treated PKU patients. Materials & Methods This cross-sectional study was performed between 2015 and 2017 to compare growth indices in PKU patients in our clinics with normal age and sex matched controls. Weight, height, head circumference (HC), weight for height and BMI (weight/height2) were measured and converted into Z-scores. We assessed differences between patients and controls' anthropometric indexes in all patients and separately in patients who were diagnosed by newborn screening program and patients who were diagnosed after presentation of clinical manifestations in comparison with age and sex-matched controls. Also, this difference was assessed separately in patients aged two years and less. Correlations between pretreatmin patients, while BMI SDS, weight SDS, and weight for height SDS were significantly higher in PKU patients in comparison with the control group when patients who were diagnosed in newborn screening were assessed. Head circumference SDS, BMI, height SDS and difference between patients' height SDS and mid parental height SDS had significantly lower mean scores in comparison with those of the control group, while mean weight SDS was significantly higher compared to controls when patients who were diagnosed after clinical presentation were assessed. Mean phenylalanine was not correlated with anthropometric indices, while there was a correlation between pretreatment phenylalanine and HC. Conclusion Disparities in anthropometric indexes changes observed in different studies may be due to diverse diet protocols, availability of various specific products and micronutrient substitutes.Objectives Infantile spasms can have irrecoverable adverse effects on a child's brain. Adrenocorticotropic hormone (ACTH) is the most common first-line medication for the treatment of infantile spasms. However, the suitable dose and duration of treatment continue to be debated among specialists. Since high doses of ACTH, which are commonly used, can produce more side effects, lower doses are preferred. The aim of this study was to determine the effect and extent of complications caused by high and low doses of ACTH in children with infantile spasms. Materials & Methods This clinical trial was performed on 32 infants with infantile spasms, aged 1.5-18 months. The subjects were divided into high- and low-dose ACTH groups. Treatment continued for two months. The therapeutic effects and complications were then compared over 18 months. Results The results indicated no significant difference between the groups in terms of the short-term prognosis of convulsions, final prognosis of patients with spasm relapse, EEG changes after treatment, and post-treatment development of hypertension. On the other hand, there was a significant difference in the frequency distribution of restlessness intensity and becoming Cushingoid, which were more frequent in the high-dose group. Conclusion The results indicated that high- and low-dose ACTH are equally effective in controlling spasms, yet the low dose causes fewer side effects.Objectives The aim of this study protocol is to systematically review the literature to examine the effects of developmental care on preterm infants' neurodevelopment in the neonatal intensive care unit (NICU). Materials & Methods Studies will be retrieved through searching the following databases Web of Science, PubMed, EMBASE (Ovid), Cochrane Central Register of Controlled Trials (CENTRAL), CINAHL (EBSCO), and Scopus. Randomized controlled trials will be included with randomization at either individual or cluster level. The primary outcome will be to evaluate the effect of developmental care on the mental and motor development of NICU neonates. The secondary outcome will be neonatal weight gain and length of stay during NICU hospitalization. The assessment tool for the development should be the Bayley Scales of Infant and Toddler Development, in any of the first, second and third editions. Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) will be employed to identify relevant articles and report the screening process.
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