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Condition: Rare Diseases

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Total 294 results found since Jan 2013.

Diagnostic Challenges due to Atypical presentations of CMT in Charcot Marie Tooth Disease type 4C associated with SH3TC2 mutations (P5.124)
Conclusions:Our results suggest that certain mutations in the SH3TC2 gene can present with clinical features atypical of classic presentations of CMT. These atypical features have been described previously, and our results confirm the diagnostic challenge associated with CMT 4C.Study Supported by:This work was supported by intramural funding from the National Institute of Neurological Disorders and Stroke (NINDS), NIH (AM). The work was supported by a grant from the National Institute of Neurological Disorders and Stroke (MES) and Office of Rare Diseases (MES, U54NS065712), Muscular Dystrophy Association (MES), Charcot-Mar...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Jerath, N., Grunseich, C., Baloui, H., Nnamdi-Emeratom, C., Schindler, A., Chrast, R., Shy, M., Mankodi, A. Tags: Neuromuscular and Clinial Neurophysiology (EMG): Peripheral Neuropathy II Source Type: research

Thrombotic Thrombocytopenic Purpura in Oman; Manifestations and Outcome. Retrospective Study
Conclusion:This is the first study that demonstrates the demographic, clinical and survival rate of TTP patients in Oman, and provides a general picture of the TTP patients in our countryDisclosuresNo relevant conflicts of interest to declare.
Source: Blood - November 21, 2018 Category: Hematology Authors: Al Hashmi, K. N., Al Dowaiki, S. Tags: 311. Disorders of Platelet Number or Function Source Type: research

Antiphospholipid Syndrome is still a rare disease: the estimated prevalence in Piedmont and Aosta Valley
AbstractWe read with interest the recent article by Duarte ‐García, A. et al. where they reported an estimated prevalence of the antiphospholipid syndrome (APS) of 50 cases per 100,000 population. APS is an autoimmune disorder characterized by thrombotic events, pregnancy morbidity, or both in the presence of persistent positivity for antiphospholipid an tibodies (aPL). While APS is often held as the most common acquired thrombophilia, the global incidence and the prevalence of APS in the general population still need to be fully elucidated. Some reports estimate an incidence of 5 cases per 100,000 persons per year and ...
Source: Arthritis and Rheumatology - June 16, 2020 Category: Rheumatology Authors: Massimo Radin, Savino Sciascia, Mario Bazzan, Tiziana Bertero, Renato Carignola, Barbara Montaruli, Antonella Vaccarino, Erika Montabone, Irene Cecchi, Elena Rubini, Dario Roccatello, Simone Baldovino, on behalf of the Piedmont, Aosta Valley APS Consortiu Tags: LETTER TO THE EDITOR Source Type: research

Retrograde recanalisation for vertebral artery stump syndrome: a case report
Stroke Vasc Neurol. 2022 Mar 30:svn-2021-001407. doi: 10.1136/svn-2021-001407. Online ahead of print.ABSTRACTVertebral artery stump syndrome (VASS) is a rare disease associated with a posterior circulation stroke after vertebral artery origin occlusion. We have herein presented a case of VASS that was effectively treated with endovascular intervention using retrograde recanalisation and the mechanism of VASS in our patient was thought to be a thrombus formed by stagnating flow.PMID:35354663 | DOI:10.1136/svn-2021-001407
Source: Atherosclerosis - March 31, 2022 Category: Cardiology Authors: Renjie Ji Bing Li Ziqi Xu Source Type: research

Hidden Bow Hunter's Syndrome Diagnosed Using Dynamic Cerebral Angiography and Successfully Treated with Spinal Surgery: A Case Report and Review of the Literature
Intern Med. 2023 Jun 7. doi: 10.2169/internalmedicine.1386-22. Online ahead of print.ABSTRACTHidden bow hunter's syndrome (HBHS) is a rare disease in which the vertebral artery (VA) occludes in a neutral position but recanalizes in a particular neck position. We herein report an HBHS case and assess its characteristics through a literature review. A 69-year-old man had repeated posterior-circulation infarcts with right VA occlusion. Cerebral angiography showed that the right VA was recanalized only with neck tilt. Decompression of the VA successfully prevented stroke recurrence. HBHS should be considered in patients with p...
Source: Internal Medicine - June 7, 2023 Category: Internal Medicine Authors: Satoshi Miyamoto Mikito Hayakawa Sho Okune Ryosuke Shintoku Akinari Yamano Takato Hiramine Toshihide Takahashi Hisayuki Hosoo Yoshiro Ito Aiki Marushima Masao Koda Eiichi Ishikawa Yuji Matsumaru Source Type: research

Idiopathic hypertrophic cranial pachymeningitis: a rare but treatable cause of headache and facial pain
Introduction Idiopathic Hypertrophic Cranial Pachymeningitis (IHCP) is a rare disease with pain and compression related cranial nerve dysfunction as main clinical features. The leading diagnostic finding of IHCP consists of diffuse or localised thickening of the dura, which demands appropriate imaging and image interpretation. This case description aims at increasing the awareness for the clinical symptoms and imaging findings of this rare disease to allow prompt diagnosis and treatment initiation. Case description An 82-year-old man presented with recurrent left sided headache and worsening facial pain, which had begun mo...
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 15, 2013 Category: Neurosurgery Authors: Khalil, M., Ebner, F., Fazekas, F., Enzinger, C. Tags: Immunology (including allergy), Meningitis, Brain stem / cerebellum, Cranial nerves, Headache (including migraine), Infection (neurology), Multiple sclerosis, Pain (neurology), Stroke, Hypertension, Ophthalmology, Radiology, Surgical diagnostic tests, Ear Source Type: research

Enhancing Case Ascertainment of Parkinson's Disease Using Medicare Claims Data in a Population-Based Cohort: The Cardiovascular Health Study (P03.065)
CONCLUSIONS: Although our enhanced method identified a number of new PD cases, and reclassified findings did not appreciably alter prevalence and incidence estimates compared to our previous algorithm. However, our enhanced method provided stronger estimates of association, potentially due to a reduced level of disease misclassification.Supported by: Michael J. Fox Rapid Response Innovation Award;; This work was also funded by the National Heart, Lung, and Blood Institute (N01 HC-35129, N01 HC-45133, N01 HC-75150, N01 HC-85079 through N01 HC-85086, N01 HC-15103, N01 HC-55222, U01 HL-080295 and R01 HL-075366) with additiona...
Source: Neurology - February 14, 2013 Category: Neurology Authors: Ton, T., Biggs, M. L., Comer, D., Curtis, L., Hu, S.-C., Thacker, E., Searles Nielson, S., Delaney, J., Landsittel, D., Longstreth, W. T., Checkoway, H., Jain, S. Tags: P03 Movement Disorders: Parkinson ' s Disease Epidemiology and Biomarkers Source Type: research

Erythropoietin Receptor (EpoR) Agonism Is Used to Treat a Wide Range of Disease.
Abstract The erythropoietin receptor (EpoR) was discovered and described in red blood cells (RBCs), stimulating its proliferation and survival. The target in humans for EpoR agonists drugs appears clear-to treat anemia. However, there is evidence of the pleitropic actions of erythropoietin (Epo). For that reason, rhEpo therapy was suggested as a reliable approach for treating a broad range of pathologies, including heart and cardiovascular diseases, neurodegenerative disorders (Parkinson's and Alzheimer's disease), spinal cord injury, stroke, diabetic retinopathy and rare diseases (Friedreich ataxia). Unfortunatel...
Source: Molecular Medicine - May 23, 2013 Category: Molecular Biology Authors: Sanchis-Gomar F, Perez-Quilis C, Lippi G Tags: Mol Med Source Type: research

Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
We report 2 patients with HGPS who presented with generalized sclerodermatous, shiny skin in infancy and a novel mutation in the LMNA gene.
Source: Journal of the American Academy of Dermatology - September 20, 2013 Category: Dermatology Authors: Hui Zhang, Xilan Chen, Yifeng Guo, Jianying Liang, Li Tang, Hong Yu, Zhirong Yao Tags: JAAD Online Source Type: research

Pituitary aspergillosis in a kidney transplant recipient and review of the literature
Abstract Pituitary aspergillosis is a very rare disease, documented in only 12 cases. Although seen in both immunocompetent and immunocompromised patients, serious invasive sequelae, such as meningoencephalitis and death, have been noted in immunocompromised patients. Immunocompromised patients are susceptible and require complex multidisciplinary care to contain the spread of infection and maximize outcomes. This is the first case report, to our knowledge, of pituitary aspergillosis in the setting of an organ transplant. A 68‐year‐old woman presented with cephalgia, left temporal hemianopsia, and ptosis. Non‐contras...
Source: Transplant Infectious Disease - October 3, 2013 Category: Transplant Surgery Authors: P. Vijayvargiya, I. Javed, J. Moreno, M.A. Mynt, M. Kotapka, R. Zaki, J. Ortiz Tags: Case Report Source Type: research