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The full spectrum of MRI findings in 18 patients with Canavan disease: new insights into the areas of selective susceptibility
IntroductionCanavan disease (CD) is a rare autosomal recessive neurodegenerative disorder caused by a deficiency of aspartoacylase A, an enzyme that...
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The natural history of Canavan disease: 23 new cases and comparison with patients from literature
BackgroundCanavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could...
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Genetische Befunde in der Versorgungspsychiatrie
In psychiatry, owing to advancing medical diagnostics, patients are increasingly presenting with genetic findings, examples of which are mentioned...
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Canavan’s spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature
Canavan disease (CD; MIM 271,900) or spongy degeneration of the central nervous system (CNS) is a lethal, rare autosomal recessive leukodystrophy,...
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High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of white matter of...
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Immunosuppressed patients are at increased risk of local recurrence, metastasis, and disease specific death from cutaneous squamous cell carcinoma
It is well established that immunosuppressed patients are at increased risk for poor outcomes (PO) from cutaneous squamous cell carcinoma (cSCC),...
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Small and large intestinal cancer in patients with Crohn’s disease studied by surgeons
PurposeThe current study summarized the clinical course and treatment outcomes of intestinal cancer in CD seen in our department and explored the...
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Risk of Cancer in Inflammatory Bowel Disease and Pitfalls in Oncologic Therapy
BackgroundInflammatory bowel disease (IBD), represented by ulcerative colitis and Crohn’s disease, is an idiopathic condition caused by a...
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Update on leukodystrophies and develo** trials
Leukodystrophies are a heterogeneous group of rare genetic disorders primarily affecting the white matter of the central nervous system. These...
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Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature
BackgroundAminoacylase-1 deficiency (ACY1D) is an autosomal recessive rare inborn error of metabolism, which is caused by disease-causing variants in...
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Epilepsy in children with leukodystrophies
BackgroundEpilepsy might be one of the manifestations in children with leukodystrophies, but the incidence of epilepsy in different types of...
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Clinical 1H MRS in childhood neurometabolic diseases — part 2: MRS signatures
Proton MRS of the brain provides the ability to gather direct information regarding the metabolic status of the brain at the time of MRI. Although...
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Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders
BackgroundThe pediatric genetic white matter disorders are characterized by a broad disease spectrum. Genetic testing is valuable in the diagnosis....
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Viral-mediated gene therapy in pediatric neurological disorders
BackgroundDue to the broad application of next-generation sequencing, the molecular diagnosis of genetic disorders in pediatric neurology is no...
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Health-related quality of life in patients with extremity bone sarcoma after surgical treatment: a systematic review
PurposeWe conducted a systematic review of studies reporting on measurement of health-related quality of life (HRQoL), with a special focus on the...
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Induced pluripotent stem cells (iPSCs): molecular mechanisms of induction and applications
The induced pluripotent stem cell (iPSC) technology has transformed in vitro research and holds great promise to advance regenerative medicine. iPSCs...
