Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Habibe Nejad Biglari"'
Autor:
Hanie Karimi, Roham Sarmadian, Abolfazl Gilani, Poorya salajegheh, Habibe Nejad Biglari, Mahsa Gholizadeh
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-6 (2022)
Abstract Background Coronavirus disease 2019 can lead to rare but severe and life-threatening diseases in susceptible high-risk populations, including patients with immunodeficiency. A rare event in this report is stroke following COVID-19 disease in
Externí odkaz:
https://doaj.org/article/2a801eb76f864d4388ce3d2746f6bb91
Publikováno v:
Clinical Medicine Insights: Case Reports, Vol 16 (2023)
Background: Primary deficiency of coenzyme Q 10 deficiency-4 (CoQ 10 D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia. Case report: We pr
Externí odkaz:
https://doaj.org/article/2b7deb6f8810464393f7bcaab78936fa
Autor:
Hamed Ghoshouni MD, Roham Sarmadian MD, Rana Irilouzadian MD, Habibe Nejad Biglari MD, Abolfazl Gilani MD
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports, Vol 11 (2023)
Cerebrotendinous xanthomatosis ( CTX ) is a rare hereditary disease described by a mutation in the CYP27A1 gene , which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid. Accumulation of cholesterol and its metabolite, c
Externí odkaz:
https://doaj.org/article/c821ffe7fc8249b59485a683f15ef5c8
Autor:
Rana Irilouzadian, Ali Goudarzi, Hamed Hesami, Roham Sarmadian, Habibe Nejad Biglari, Abolfazl Gilani
Publikováno v:
SAGE Open Medical Case Reports, Vol 11 (2023)
Canavan disease is a rare fetal inherited leukodystrophy, caused by accumulation of N-acetyl-aspartate in the brain. Here, we report a child presented with frequent intractable seizures and visual impairment. A 14-month-old female infant with a compl
Externí odkaz:
https://doaj.org/article/b9e75ab9031e4876b707a601e5562207
Publikováno v:
IP Indian Journal of Neurosciences. 8:282-285
The usual features of the acrocallosal syndrome (ACLS) are agenesis of the corpus callosum, mental retardation, prominent craniofacial deformities, and specific digital abnormalities. ACLS is a rare genetic disorder which may be autosomal recessive,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b2a227f2664f650102ea76e9270714f
https://doi.org/10.18231/j.ijn.2022.055
https://doi.org/10.18231/j.ijn.2022.055
Publikováno v:
Oxford Medical Case Reports. 2023
Paganini-Miozzo syndrome (MRXSPM) is a rare neurogenetic disorder that is transmitted by X-linked recessive inheritance. This is the third case reported of this disease in the world with a novel variant. A boy was referred due to the absence of neck
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4012672aa6f78d2289e5843371cf80ad
https://doi.org/10.1093/omcr/omad024
https://doi.org/10.1093/omcr/omad024
The usual features of the acrocallosal syndrome (ACLS) are agenesis of the corpus callosum, mental retardation, prominent craniofacial deformities, and specific digital abnormalities. We discuss the case of a neonate with ACLS-consistent characterist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::39bbe59e12a51b2bf87e0585f48622b5
https://doi.org/10.22541/au.165545480.06420297/v1
https://doi.org/10.22541/au.165545480.06420297/v1
Autor:
Elham Pourbakhtyaran, Seyyed Hossein Fakhraee, Lobat Shahkar, Seyyed Ahmad Tabatabai, Sara Sanii, Habibe Nejad Biglari
Publikováno v:
Archives of Pediatric Infectious Diseases. 4
Background: Congenital pulmonary lesions may be diagnosed through ultrasonographic screenings or be revealed as causes of respiratory distress in the neonatal period and infancy. Less commonly, they are detected as incidental features. Objectives: Ou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1de285591ee71d354e19f9231d5fe083
https://doi.org/10.5812/pedinfect.32792
https://doi.org/10.5812/pedinfect.32792
Autor:
Parvaneh, Karimzadeh, Narjes, Jafari, Habibe, Nejad Biglari, Sayena, Jabbehdari, Mehdi, Alizadeh, Ghazal, Alizadeh, Hamid, Nejad Biglari, Sara, Sanii
Publikováno v:
Iranian Journal of Child Neurology
Objective Adrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath breakdown in the brain. In this study, we present 4 yr experience on this disorder. Materials & Methods The patients diagnosed as adrenoleuko
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9f6311833de9b03ddf1173c93fefd31e
https://pubmed.ncbi.nlm.nih.gov/27057190
https://pubmed.ncbi.nlm.nih.gov/27057190
Autor:
Habibe, Nejad Biglari, Alireza, Rezayi, Hamid, Nejad Biglari, Mehdi, Alizadeh, Farzad, Ahmadabadi
Publikováno v:
Iranian Journal of Child Neurology
Objective Migraine is a disabling illness that causes absence from school and affects the quality of life. It has been stated that headache may represent an epileptic event. EEG abnormality is a prominent finding in children with migraine. The aim of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a50cc2364868703c8c7f552d736e0217
https://pubmed.ncbi.nlm.nih.gov/24665268
https://pubmed.ncbi.nlm.nih.gov/24665268