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Condition: Rare Diseases

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Total 294 results found since Jan 2013.

Fabry disease in cardiology: Diagnosis and therapeutic approaches
Turk Kardiyol Dern Ars. 2020 Dec;48(Suppl 2):1-42. doi: 10.5543/tkda.2020.38262.ABSTRACTFabry disease is a rare, progressive, X-linked inherited storage disorder due to absent or deficient of lysosomal alfa galactosidase A activity. Deficient activity of alfa-galactosidase A results in progressive accumulation of globotriaosylceramide in a variety of tissues and organs including myocardium, kidney and nerve system. This disorder predominantly affects males; however, female heterozygotes may also be affected with a less severe clinical picture. Classic Fabry disease is usually diagnosed in early age of childhood because of ...
Source: Turk Kardiyoloji Dernegi arsivi - January 21, 2021 Category: Cardiology Authors: Y üksel Çavuşoğlu Ebru Özpelit Nur Arslan Mesut Demir G ökhan Kahveci H üseyin Onay Emir Özgür Barış Ökçün Oma ç Tufekcioglu Selcen Yakar T ülüce Gonca K ılıç Yıldırım Source Type: research

Visual Hallucinations in a Patient With Moyamoya Disease: A Review and Case Report
We report the case of a 34-year-old man with MMD who suffered from psychosis accompanied by visual hallucinations. The man was diagnosed with MMD and attends periodic follow-ups in our neurology outpatient clinic. After undergoing programmed neurosurgery, the man’s immediate postoperative follow-up neuroimaging showed an extensive right frontotemporal acute ischemic lesion for which he was treated and released. Almost a year later, he presented to an outpatient psychiatric clinic where he complained of visual hallucinations and delusions. This time, there was no change in neuroimaging. Treatment with olanzapine was succe...
Source: Cognitive and Behavioral Neurology - March 1, 2021 Category: Neurology Tags: Case Reports Source Type: research

Fabry disease in cardiology: Diagnosis and therapeutic approaches
Turk Kardiyol Dern Ars. 2020 Dec;48(Suppl 2):1-42. doi: 10.5543/tkda.2020.38262.ABSTRACTFabry disease is a rare, progressive, X-linked inherited storage disorder due to absent or deficient of lysosomal alfa galactosidase A activity. Deficient activity of alfa-galactosidase A results in progressive accumulation of globotriaosylceramide in a variety of tissues and organs including myocardium, kidney and nerve system. This disorder predominantly affects males; however, female heterozygotes may also be affected with a less severe clinical picture. Classic Fabry disease is usually diagnosed in early age of childhood because of ...
Source: Turk Kardiyoloji Dernegi arsivi - January 21, 2021 Category: Cardiology Authors: Y üksel Çavuşoğlu Ebru Özpelit Nur Arslan Mesut Demir G ökhan Kahveci H üseyin Onay Emir Özgür Barış Ökçün Oma ç Tufekcioglu Selcen Yakar T ülüce Gonca K ılıç Yıldırım Source Type: research

Stroke-Like Migraine Attacks After Radiation Therapy (SMART) Syndrome: A Comprehensive Review
AbstractPurpose of ReviewSMART syndrome is a delayed complication of cranial irradiation that can be misconstrued as tumor recurrence or some other intracranial neurological disease. Recognition of this clinical syndrome is imperative as it can obviate the need for invasive diagnostic testing and can provide reassurance to both the patient and their loved ones.Recent FindingsSMART syndrome is generally considered a reversible clinical syndrome; however, neurological deficits may become permanent. Pathophysiology of SMART syndrome may involve cerebrovascular autoregulation impairment, neuronal dysfunction leading to trigemi...
Source: Current Pain and Headache Reports - March 24, 2021 Category: Neurology Source Type: research

The benefits and challenges of family genetic testing in rare genetic diseases —lessons from Fabry disease
ConclusionIn this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases.
Source: Molecular Genetics & Genomic Medicine - April 9, 2021 Category: Genetics & Stem Cells Authors: Dominique P. Germain, Sergey Moiseev, Fernando Su árez‐Obando, Faisal Al Ismaili, Huda Al Khawaja, Gheona Altarescu, Fellype C. Barreto, Farid Haddoum, Fatemeh Hadipour, Irina Maksimova, Mirelle Kramis, Sheela Nampoothiri, Khanh Ngoc Nguyen Tags: REVIEW ARTICLE Source Type: research

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
In conclusion, we identified variants in theLIG3 gene that result in a mitochondrial disease characterized by predominant gut dysmotility, encephalopathy, and neuromuscular abnormalities.
Source: Brain - April 15, 2021 Category: Neurology Source Type: research