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Iranian Journal of Child Neurology

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https://www.readbyqxmd.com/read/29379571/the-survey-of-saliva-compositional-alterations-is-a-non-invasive-method-in-determining-of-multiple-sclerosis-progression-in-children
#1
Mohammad Javad Saeediborujeni, Erik Schaeffner, Shayan Golkar, Mehdi Salehi, Bahman Rashidi
No abstract text is available yet for this article.
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379570/type-0-spinal-muscular-atrophy-in-rare-association-with-congenital-contracture-and-generalized-osteopenia
#2
Aditi Singh, Poonam Dalal, Jasbir Singh, Pooja Tripathi
Spinal muscular atrophy (SMAs) is a group of rare autosomal recessive diseases in which there is degeneration of alpha motor neurons in the spinal cord leading to progressive distal motor weakness. Here we report a case of type 0 SMA in a female neonate born at the Department of Pediatrics, PGIMS, Rohtak (Haryana) India, associated with generalized osteopenia and bony deformity in form of unilateral club foot. It may be emphasized that diagnosis of SMA should be kept in mind as a differential in cases of unexplained severe generalized hypotonia and severe respiratory compromise immediately after birth...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379569/brain-atrophy-and-hypomyelination-associated-with-iatrogenic-cushing-syndrome-in-an-infant
#3
Sumeyra Dogan, Mehmet S Dogan, Filiz Tutunculer, Ozge Yapiciugurlar, Hakan Genchellac
Prolonged use of topical corticosteroids, particularly in infants, albeit rare, may lead to Cushing syndrome. Central nervous system abnormalities including brain atrophy and delayed myelination on cranial magnetic resonance imaging has been reported in patients with corticosteroid treatment. We herein report a 5-month-old female infant referred to Department of Pediatric Endocrinology, Edirne, Turkey with brain atrophy and myelination delay that might be due to iatrogenic Cushing syndrome caused by topical corticosteroid use...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379568/characterization-of-a-de-novo-constitutional-balanced-translocation-t-2-11-q33-2-q23-2-with-break-point-on-the-human-nbeal1-geneho
#4
Javad Karimzadhagh, Soraya Salehgargari, Mirdavood Omrani
Reciprocal balanced translocations associated with clinical features are very rare. This study reports cytogenetic and molecular cytogenetic findings in a 3-yr-old female patient with mild developmental retardation, slight hypotone with a de novo balanced 46, XX, t(2; 11) (q33; q23) translocation. Her parent attended private office at Tehran, Iran in 2013. G-banded chromosomes and FISH-Analysis were used to examine the patient's karyotype as well as her parents. FISH-probes prepared with specific RP11-BAC clones mapped near 2q33 and 11q23 regions were used to characterize the location of the breakpoints...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379567/rare-presentation-of-moyamoya-disease-with-sub-acute-presentation-in-iran
#5
Payam Sasannejad, Fateme Rezaei, Reza Bidaki, Ehsan Zarepur
Moyamoya disease is a chronic progressive vascular disease of brain characterized by bilateral stenosis or occlusion of the arteries around the circle of Willis with prominent arterial collateral circulation. We introduce here a patient with Moyamoya who was misdiagnosed. She was a 16-yr-old female from north east of Iran who complained left hemiparesis and was diagnosed Moyamoya disease by brain and cervical CT-Angiography. There was still great difficulty in the diagnosis of diffuse white matter lesions. The CT-Angiography showed bilateral internal carotid stenosis with "puff of smoke" collateralization arising from the circle of Willis, therefore Moyamoya disease was raised...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379566/recurrent-stroke-in-a-child-with-trma-syndrome-and-slc19a2-gene-mutation
#6
Parvaneh Karimzadeh, Toktam Moosavian, Hamidreza Moosavian
Here we report a 5-month-old boy with thiamine Responsive Megaloblastic Anemia syndrome (TRMA syndrome) with several attacks of stroke, admitted to Mofid Children's Hospital, Tehran, Iran, in 2016. In addition to the cardinal clinical manifestations of the syndrome, other manifestations comprise thiamine-responsive megaloblastic anemia, diabetes mellitus, and sensor neural hearing loss. The patient showed the ischemic attack of stroke. Megaloblastic anemia and diabetes were diagnosed at 8 months and was successfully treated with vitamin and insulin prescription...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379565/bone-mineral-density-and-bone-metabolism-in-patients-with-duchenne-muscular-dystrophy
#7
Mohammad Barzegar, Elnaz Niknam, Parinaz Habibi, Shadi Shiva, Sanaz Tahmasebi
Objective: Poor bone health with related morbidity is a major problem with Duchene Muscular Dystrophy (DMD). Decreased mobility and long-term corticosteroid therapy are involved in poor bone health in DMD. We investigated bone mineral density and bone metabolism in 30 steroid treated DMD patients and also compared mentioned factors between ambulated and non-ambulated patients. Materials & Methods: In this cross-sectional study, 30 boys (21 patients ambulate and 9 non-ambulate) with documented DMD, according to genetic analysis, were enrolled in 2015...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379564/factors-influencing-the-attendance-of-preterm-infants-to-neonatal-follow-up-and-early-intervention-services-following-discharge-from-neonatal-intensive-care-unit-during-first-year-of-life-in-iran
#8
Aida Ravarian, Roshanak Vameghi, Mohammad Heidarzadeh, Shahin Nariman, Setareh Sagheb, Fariba Nori, Farhoud Saeedershadi, Mehdi Norozi
Objective: The aim of this study was to determine factors influencing the number of times neonatal intensive care unit admitted preterm infants attend Neonatal Follow up and Early Intervention services (NFEI) during first year of life. Materials &Methods: A parent-report questionnaire was administered via phone after the first birthday of preterm infants admitted to the NICU at Arash Hospital, Tehran, for at least 24 h, and who received standard NICU-based therapeutic services, from Apr 2014 to Feb 2015...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379563/the-relationship-of-parental-pain-catastrophizing-with-parents-reports-of-children-s-anxiety-depression-and-headache-severity
#9
Ghazale Akbarzadeh, Hojjat Daniali, Mohsen Javdzadh, Line Caes, Seyran Ranjbar, Mojtaba Habibi
Objective: Parental pain catastrophizing is a construct recognized to have a significant impact on experience of pain in both children and parents. This research aimed to investigate the probable relationship of parental pain catastrophizing with the parent's reports of children's anxiety, depression and headache severity amongst Iranian parents of children with chronic or recurrent headache. Materials & Methods: This study was conducted in 2015-16, in two pediatric neurological centers located in Tehran, Iran; with a convenience sampling method and 212 parents (120 mothers and 92 fathers) of 132 children with a chronic or recurrent headache (migraine and tension-type)...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379562/a-randomized-clinical-trial-comparing-the-efficacy-of-melatonin-and-amitriptyline-in-migraine-prophylaxis-of-children
#10
Razieh Fallah, Fatemeh Fazelishoroki, Leila Sekhavat
Objective: The aim of the present research was to compare the effectiveness and tolerability of melatonin and amitriptyline in pediatric migraine prevention. Materials & Methods: In a parallel single-blinded randomized clinical trial, 5-15 yr old children with diagnosis of migraine that preventive therapy was indicated in whom and were referred to Pediatric Neurology Clinic of Shahid Sadoughi Medical Sciences University, Yazd-Iran from 2013-2014, were randomly allocated to receive 1 mg/kg amitriptyline or 0...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379561/haplotype-analysis-of-dxs548-and-fraxac1-microsatellite-loci-in-iranian-patients-with-fragile-x-syndrome
#11
Seyed Ahmad Aleyasin, Fatemeh Salamat, Mojgan Mirakhori
Objective: Fragile X syndrome (FXS) is the most common cause of inherited mental retardation caused by expansion of a (CGG) repeat region up to 1000 repeat in 5' region of the FMR1 gene located in FRAXA locus Xq27.3. To better understand the mechanism involved in expansion of CGG region, the molecular characteristic of the flanking microsatellite markers in the region must be clarify in different populations. We aimed to examine the potential association between specific haplotype and the expanded AC-repeat region in cases and controls chromosomes...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379560/evaluating-of-psychiatric-behavior-in-obese-children-and-adolescents
#12
Fatemeh Moharei, Samaneh Norooziasl, Fatemeh Behdani, Nosrat Ghaemi
Objective: Obesity is a medical condition that may have a harmful effect on health, leading to increased illness and reduced life expectancy. This study aimed to  evaluate the relationship of psychiatry disorders in overweight and obese children and adolescents. Materials & Methods: In this case-control study, 160 children and adolescent were enrolled refereed to Clinic of Pediatric Endocrinology, Imam Reza hospital, Mashhad, Iran in 2009-2011. The sampling method of this study was non-probability and biased...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379559/clinical-and-imaging-findings-in-childhood-posterior-reversible-encephalopathy-syndrome
#13
Serdal Gungor, Betul Kilic, Yilmaz Tabel, Ayse Selimoglu, Unsal Ozgen, Sezai Yilmaz
Objective: Posterior reversible encephalopathy syndrome (PRES) is characterized by typical radiologic findings in the posterior regions of the cerebral hemispheres and cerebellum. The symptoms include headache, nausea, vomiting, visual disturbances, focal neurologic deficits, and seizures. The aim of this study is to evaluate the clinical and radiological features of PRES in children and to emphasize the recognition of atypical features. Materials & Methods: We retrospectively examined 23 children with PRES from Mar 2010-Apr 2015 in Inonu University Turgut Ozal Medical Center in Turkey...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379558/effect-of-whole-exome-sequencing-in-diagnosis-of-inborn-errors-of-metabolism-and-neurogenetic-disorders
#14
REVIEW
Marjan Shakiba, Mohammad Keramatipour
Objective: Inborn errors of metabolism are complex disorders with huge variability in clinical manifestations. Decreasing cost of whole exome sequencing (WES) in recent years, made it affordable. Therefore, we witnessed an increase in using WES in diagnosis of genetic diseases, including inherited metabolic disorders. Methods: A systematic search was done in well-known databases including Medline, Google, Cochrane, and PubMed until 1 Oct 2017. We reviewed the articles addressing the use of WES in diagnosis of metabolic and neurogenetic diseases to evaluate its impact in diagnosis of these conditions...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29201129/cerebral-vasculitis-in-a-case-of-meningitis
#15
Devdeep Mukherjee, Agnisekhar Saha
Cerebral vasculitis is a serious complication of meningitis with Streptococcus pneumoniae. We report a 5 yr old girl who was admitted in May 2015 at Fortis Hospital, Kolkata, India and was diagnosed to have pneumococcal meningitis with vasculitis on DWMRI within a week of onset of fever. She was given high dose of methyl-prednisolone simultaneously with antibiotics and successfully treated without any neuro-sequelae. Although vasculitis has been documented to develop as sequelae to bacterial meningitis usually in the second week, our patient had an early presentation...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29201128/a-highlighted-case-for-emphasizing-on-clinical-diagnosis-for-rare-syndrome-in-third-world
#16
Fatemeh Owlia, Mohammad-Hassan Akhavan Karbassi, Roqayeh Hakimian, Mohammad Sadegh Alemrajabi
Premature tooth loss is a disastrous situation that affects deciduous or permanent teeth era with different causes. It may be attributed to some disorders like Papillon-Lefevre syndrome or coffin-lowry syndrome but because of ambiguous nature, precise diagnosis is not easily possible. Moreover, it has very low incidence and defines by few and limited case series, with vague characters to some extent, confusion in detecting the right diagnosis is a common possibility. Hence, it is expectable to have a wrong diagnosis for this case...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29201127/another-limping-child-an-interesting-diagnosis-journey
#17
Mehrnoush Hassas Yeganeh, Khosro Rahmani, Shokuh Hashemi, Seyed Hassan Tonekaboni, Reza Sinae, Mohammad Reza Fathi, Reza Shiari
Limp is described as any deviation from a normal gait pattern for the child's age. Limping takes many forms and is one of the most enigmatic complaints in pediatric medicine. It is never normal, and both benign and life-threatening illnesses can present with limp. The provisional diagnosis can be a challenge to establish even after history, physical, and laboratory examinations.
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29201126/neurological-crises-after-discontinuation-of-nitisinone-ntbc-treatment-in-tyrosinemia
#18
Naser Honar, Nader Shakibazad, Zahra Serati Shirazi, Seyed Mohsen Dehghani, Soroor Inaloo
Objective: Tyrosinemia type 1 is a hereditary disorder with liver, kidney and nervous system involvement. Neurological crises can occur in tyrosinemic patients without treatment or when treatment stops. Here we report three children that developed diaphragmatic paralysis after discontinuation of nitisinone. In patients with tyrosinemia type 1, combined treatment with nitisinone and a low-tyrosine diet have prevented neurological crises. The purpose of this article was to express the importance of taking nitisinone (NTBC) for tyrosinemia diseases and risks of inadvertent discontinuation...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29201125/glutaric-aciduriatype-1-clinical-and-molecular-study-in-iranian-patients-3-novel-mutations
#19
Zahra Pirzadeh, Massoud Houshmand, Jafar Nasiri, Mohsen Mollamohammadi, Mostafa Sedighi, Seyed Hassan Tonekaboni
Objective: Glutaricaciduria type 1 (GA1), is a rare, treatable neuro metabolic disease, due to glutaryl- CoA dehydrogenase (GCDH) gene mutation.In regions without neonatal blood screening (NBS), patients are diagnosed in symptomatic period. This study was carried out to assess patients with GA1 for clinical, biochemical, neuroimaging findings and GCDH gene mutations analysis. Materials & Methods: In this cross-sectional study, clinical manifestation, neuroimaging and metabolic findings of eleven Iranian GA1 patients of MofidChildren's Hospital, Tehran, Iranbetween 2001 and 2011,were evaluated...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29201124/does-parent-report-gross-motor-function-level-of-cerebral-palsy-children-impact-on-the-quality-of-life-in-these-children
#20
Marzieh Pashmdarfard, Malek Amini, Reza Shervin Badv, Narges Ghaffarzade Namazi, Mehdi Rassafiani
Objective: The aim of this study was to assess the effect of parent report gross motor function level of cerebral palsy (CP) children on the parent report quality of life of CP children. Materials & Methods: Sampling of this cross-sectional study was done in occupational therapy clinics and CP children's schools in 2016 in Zanjan, Iran. Samples size was 60 CP children aged 6-12 yr and for sampling method, a non-probability convenience was used. For assessing the quality of life of CP children the cerebral palsy quality of life (CP QOL) questionnaire and for assessing the level of gross motor function of CP children the Gross Motor Function Classification System Family Report Questionnaire (GMFCSFRQ) were used...
2017: Iranian Journal of Child Neurology
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