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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

Stent retriever thrombectomy combined with long-term local thrombolysis for severe hemorrhagic cerebral venous sinus thrombosis.
Authors: Wang Y, Zhao C, Huang D, Sun B, Wang Z Abstract Cerebral venous sinus thrombosis (CVST) is a rare disease associated with high disability and mortality rates. A subset of patients do not respond to standard anticoagulation therapy, leading to the progression of CVST with hemorrhagic stroke, which represents a major challenge for its treatment. Severe hemorrhagic (SH)-CVST is life-threatening due to large hematoma, edema and/or cerebral hernia. Anticoagulation or thrombolytic therapy alone may lead to further aggravation of the hematoma. Stent retriever thrombectomy combined with long-term local thrombolysi...
Source: Experimental and Therapeutic Medicine - September 24, 2020 Category: General Medicine Tags: Exp Ther Med Source Type: research

CADASIL vs. Multiple Sclerosis: Is It Misdiagnosis or Concomitant? A Case Series
Conclusion: Since CADASIL is a rare disease, it is imperative to raise awareness of its unique clinical condition as well as variation in its clinical presentations. It is crucial that the overlapping symptoms between MS and CADASIL be thoroughly examined to avoid misdiagnosis and treatment complications. The involvement of autoimmune mechanisms in CADASIL and the role of NOTCH3 gene mutations in provoking an autoimmune process should be further investigated.
Source: Frontiers in Neurology - September 3, 2020 Category: Neurology Source Type: research

Spinal epidural hematoma as a stroke mimic
Spinal epidural hematoma is a rare disease with an annual incidence of 1 per 1,000,000 individuals;1 however, it is a critical stroke mimic.2 As patients with spinal epidural hematoma typically present with acute hemiparesis,3,4 such a presentation is not expected to be detected by a computed tomography (CT) scan of the brain, which is the most common neuroimaging choice in patients with an activated stroke code. Indeed, there are several case reports in which patients with spinal epidural hematoma were misdiagnosed with ischemic stroke and treated with anti-thrombotic therapy, including intravenous thrombolysis,5 –10 oc...
Source: Journal of Stroke and Cerebrovascular Diseases - August 15, 2020 Category: Neurology Authors: Yuichiro Inatomi, Makoto Nakajima, Toshiro Yonehara Source Type: research

Factors influencing in-hospital death for pediatric patients with isolated methylmalonic acidemia: a nationwide inpatient database analysis
Patients with isolated methylmalonic acidemia (MMA) usually experience recurrent episodes of acute metabolic decompensation or metabolic stroke, require frequent hospitalization, and have a relatively high mor...
Source: Orphanet Journal of Rare Diseases - June 19, 2020 Category: Internal Medicine Authors: Yi-Zhou Jiang, Yu Shi, Ying Shi, Lan-Xia Gan, Yuan-Yuan Kong, Li-Ying Sun, Hai-Bo Wang and Zhi-Jun Zhu Tags: Research 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

Recurrent arterial thrombosis in a patient with Fabry disease: case report
Resumo A doen ça de Fabry é definida como uma doença rara de depósito lisossomal ligada ao cromossomo X que apresenta sintomas multissistêmicos, incluindo comprometimento vascular com eventos trombóticos. Paciente do sexo feminino, 57 anos, com diagnóstico de doença de Fabry há 11 anos, apresentava hiper idrose, hipoacusia e angioqueratoma nas mãos. Na história patológica pregressa, relatou episódio de acidente vascular encefálico isquêmico prévio aos 40 anos de idade e trombose arterial crônica agudizada em membro inferior direito há 1 ano, a qual foi tratada por meio de angioplastia com u so de stent, a...
Source: Jornal Vascular Brasileiro - April 3, 2020 Category: Surgery Source Type: research

Acute Flaccid Myelitis: A Clinical Review
Semin Neurol DOI: 10.1055/s-0040-1705123Acute flaccid myelitis (AFM) is an emerging disorder primarily affecting children that is characterized by acute flaccid paralysis accompanied by abnormalities of the spinal cord gray matter on magnetic resonance imaging. In most cases, prodromal fever or respiratory symptoms occur, followed by acute-onset flaccid limb weakness. Respiratory, axial, bulbar, facial, and extraocular muscles may also be affected. The clinical manifestations have been described as “polio-like,” due to striking similarities to cases of poliomyelitis. The primary site of injury in AFM is the anterior ho...
Source: Seminars in Neurology - March 5, 2020 Category: Neurology Authors: Murphy, Olwen C. Pardo, Carlos A. Tags: Review Article Source Type: research

Pelosi ’s radical plan would leave patients with sickle cell disease behind
Sickle cell disease (SCD) is the most commonly inherited genetic blood disorder, affecting nearly 100,000 children and adults in the United States. Three million Americans carry the sickle cell trait and it is nearly25 times more common in people of African American descent. The disorder, which can cause irregularly shaped blood cells to get stuck in narrow vessels, inflicts substantial pain on patients. The resulting reduced oxygen flow creates life-threatening complications such as difficulty breathing, chest pains, blood clots and stroke.
Source: The Catalyst - November 14, 2019 Category: Pharmaceuticals Authors: Tom Wilbur Tags: Research and Development Rare Diseases Pelosi Plan Source Type: news

Medullary Compression Due to Ectatic Vertebral Artery —Case Report and Review of Literature
Medullary compression syndrome due to anomalous course of blood vessels is a rare disease most commonly seen in the adult population. The offending vessels causing this syndrome are mostly posterior inferior cerebellar artery or the vertebral artery. The symptoms of this syndrome vary from most common hypertension to various other neurologic deficits like hemiplegia, dysesthesia, and dysarthria. Intractable dizziness is a rare symptom of this disease. The definite management plan for this disease is microvascular decompression.
Source: Journal of Stroke and Cerebrovascular Diseases - November 5, 2019 Category: Neurology Authors: Raja K. Kutty, Yasuhiro Yamada, Katsumi Takizawa, Yoko Kato Tags: Case Report Source Type: research

AI and Health Care Are Made for Each Other
Artificial intelligence has the potential to radically change health care. Imagine a not too distant future when the focus shifts away from disease to how we stay healthy. At birth, everyone would get a thorough, multifaceted baseline profile, including screening for genetic and rare diseases. Then, over their lifetimes, cost-effective, minimally invasive clinical-grade devices could accurately monitor a range of biometrics such as heart rate, blood pressure, temperature and glucose levels, in addition to environmental factors such as exposure to pathogens and toxins, and behavioral factors like sleep and activity patterns...
Source: TIME: Health - October 24, 2019 Category: Consumer Health News Authors: Geralyn Miller Tags: Uncategorized Healthcare Source Type: news

A pragmatic, adaptive clinical trial design for a rare disease: The FOcal Cerebral Arteriopathy Steroid (FOCAS) trial
We present a pragmatic approach to clinical trial design that may inform the approach to other rare disorders.
Source: Contemporary Clinical Trials - October 12, 2019 Category: Radiology Authors: Yeonhee Park, Heather J. Fullerton, Jordan J. Elm Source Type: research

PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features.
Abstract Hypertension and brachydactyly syndrome (HTNB; MIM 112410) is a rare, recently described, autosomal dominant syndromic disease characterized by the triad of brachydactyly type E (BDE), short stature, and hypertension. HTNB is caused by a heterozygous mutation in the PDE3A (MIM 123805) gene on chromosome 12p12; this gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase family. PED3A plays a role in many signal transduction pathways, including those involved in vascular smooth muscle proliferation and contraction, cardiac contractility, platelet aggregation, and hormone secretion. ...
Source: European Journal of Medical Genetics - October 3, 2019 Category: Genetics & Stem Cells Authors: Lee CG, Kang K, Yoon RG, Seo JY, Park JM Tags: Eur J Med Genet Source Type: research

Blau syndrome with a rare mutation in exon 9 of NOD2 gene.
We reported a 41-year old female Turkish patient diagnosed as Blau syndrome. Granulomatous dermatitis and severe headache, as well as recurrent chest and pelvic pain have been present since she was 8 years old. Arthritis started when she was teenage, hypertension diagnosed when she was 20 and other symptoms also occurred during the lifetime (severe preeclampsia, ischemic stroke, recurrent hemiparesis, recurrent-transient-vision-loss and renal-artery-stenosis). Genomic DNA was isolated from peripheral blood and 12 genes sequenced in Autoinflammatory panel on IonTorrent-S5-NGS platform with Parseq-VariFind™AIPassay. NGS ...
Source: Autoimmunity - September 28, 2019 Category: Allergy & Immunology Tags: Autoimmunity Source Type: research