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Condition: Rare Diseases

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Total 294 results found since Jan 2013.

Neurological Involvement in the Course of Scleromyxedema: A Case Report
Scleromyxedema is a rare disease of unknown etiology primarily affecting the skin, characterized by generalized papular eruption, dermal fibroblast proliferation with mucin deposition, and a monoclonal gammopathy. Neurological impairment is a rare but sometimes fatal complication of scleromyxedema that should be rapidly identified to prevent significant morbidity and mortality. A 63-year-old Caucasian man had a 2-year history of scleromyxedema, and was under immunosuppressive treatment with ciclosporine and methotrexate.
Source: Journal of Stroke and Cerebrovascular Diseases - June 5, 2016 Category: Neurology Authors: Francesca Spagnolo, Cecilia Nozzoli, Augusto Rini, Salvatore La Spada, Vincenzo De Marco, Bruno Passarella Tags: Case Studies Source Type: research

Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology
AbstractThis review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015. Weaning studies continue to show promise for preventing food allergy. New diagnostic tools are available for identifying the allergic origin of allergic-like symptoms. Advances have been reported in obesity, short stature and autoimmune endocrine disorders. New molecules are offered to reduce weight gain and insulin-resistance in obese children. Regional investigations may provide suggestions for preventing short stature. Epidemiological studies have evidenced th...
Source: Italian Journal of Pediatrics - August 26, 2016 Category: Pediatrics Source Type: research

Stroke patients with familial hypercholesterolemia: need for detection and aggressive treatment
This article is protected by copyright. All rights reserved.
Source: European Journal of Neurology - November 28, 2017 Category: Neurology Authors: Haralampos Milionis Tags: Editorials Source Type: research

The dynamic natural history of cerebral aneurysms from cardiac myxomas: A review of the natural history of myxomatous aneurysms.
We describe two contrasting patients with multiple cerebral aneurysms and a previous history of resected cardiac myxomas with no cardiac recurrence on follow-up echocardiography. Both patients presented with stroke- like symptoms; one with a left visual defect and the other with right hemiplegia. Magnetic resonance imaging of the brain of both patients showed the presence of multiple cerebral aneurysms that was later confirmed on conventional angiography. Both patients' aneurysms were managed conservatively. Serial angiograms were performed during their follow-up, which spanned several years. One patient's aneurysms remain...
Source: Interventional Neuroradiology - February 1, 2018 Category: Radiology Tags: Interv Neuroradiol Source Type: research

Rapid progressive visual decline and visual field defects in two patients with the Heidenhain variant of Creutzfeld-Jakob disease
Conclusions Loss of visual acuity and a decline in visual fields without corresponding MRI findings and marked changes in behaviour should lead to a diagnosis of HvCJD. Corresponding diagnostic tests should be performed for confirmation. The prognosis for survival is poor and should be immediately communicated to affected patients and their relatives.
Source: Journal of Clinical Neuroscience - February 21, 2018 Category: Neuroscience Source Type: research

Genotype-Phenotype Correlation in Congenital TTP: New Insights from a Multicentre Study with 121 Patients
Conclusion: At present, the Hereditary TTP Registry is the largest cohort on cTTP, to our knowledge. The large number of different mutations as well as confounding factors, including multi-ethnic and geographical factors in our internationally compiled patient cohort make unravelling the genotype-phenotype correlation in cTTP challenging. Yet, for c.4143_4144dupA, we can conclude that homozygous patients with ADAMTS13 c.4143_4144dupA are clinically less severely affected than compound heterozygotes due to the later onset of the disease in homozygotes, whereas the clinical characteristics are similar between compound hetero...
Source: Blood - November 21, 2018 Category: Hematology Authors: Van Dorland, A. A., Mansouri Taleghani, M., Friedman, K. D., George, J., Hrachovinova, I., Knobl, P., Lammle, B., Matsumoto, M., von Krogh, A. S., Schneppenheim, R., Aebi-Huber, I., Lukas, B., Cermakova, Z., Quist-Paulsen, P., Terrell, D., Vesely, S. K., Tags: 311. Disorders of Platelet Number or Function: Advances in the Treatment of TTP and HIT Source Type: research

Benefits and Limitations of Long-Term Eculizumab Treatment for Paroxysmal Nocturnal Hemoglobinuria (PNH): Real-World Data from Large Cohort Study in Russia
Conclusions: The results of the study show both the high efficacy and limitations of treatment with eculizumab for PNH in real-world practice. Prospectively confirmed significant improvement of the overall survival on eculizumab stress the need for faster and wider access to costly therapy. Nevertherless, a number of limitations, including BTH and extravascular hemolysis, lack of control of bone marrow failure and further clonal evolution, determine the relevance of next-generation complement inhibitors and risk-adjusted allogeneic HSCT as a curative option.DisclosuresKulagin: Alexion Pharmaceuticals, Inc: Consultancy, Honoraria.
Source: Blood - November 21, 2018 Category: Hematology Authors: Kulagin, A., Klimova, O., Rudakova, T., Golubovskaya, I., Ivanova, M., Smirnova, A., Lapina, A., Bykova, T., Babenko, E., Popova, M., Dobronravov, V., Afanasyev, B. Tags: 508. Bone Marrow Failure: Poster II Source Type: research

Measuring Health-Related Quality of Life in Sickle Cell Disease Patients Undergoing Automated Red Blood Cell Exchange in the USA, France and the UK
ConclusionSickle cell disease patients that require chronic blood transfusion experience better health-related quality of life when they are treated with automated red blood cell exchange versus simple transfusion. This observation is supported by the opinion of their treating physicians.DisclosuresDierick: Terumo BCT: Employment. Roig: Terumo BCT: Employment.
Source: Blood - November 21, 2018 Category: Hematology Authors: Dierick, K., Roig, J. Tags: 903. Outcomes Research-Non-Malignant Hematology Source Type: research

Hypothesis: Presymptomatic treatment of Sturge-Weber Syndrome With Aspirin and Antiepileptic Drugs May Delay Seizure Onset
Sturge-Weber Syndrome (SWS) is a neurocutaneous disorder caused by a somatic mosaic mutation in GNAQ.1 SWS brain involvement causes seizures, stroke-like episodes and/or neurological deficits such as hemiparesis and intellectual disability. Seventy-five percent of infants with SWS will develop seizures within the first year of life.2 Those with more severe epilepsy experience greater cognitive deficits and intellectual disability.3 There is ictal single-photon emission computed tomography evidence that, in SWS, the seizures themselves may contribute to the brain injury due to an abnormal hemodynamic response.
Source: Pediatric Neurology - November 24, 2018 Category: Neurology Authors: Alyssa M. Day, Adrienne M. Hammill, Csaba Juh ász, Anna L. Pinto, E. Steve Roach, Charles E. McCulloch, Anne M. Comi, National Institutes of Health Sponsor: Rare Diseases Clinical Research Network (RDCRN) Brain and Vascular Malformation Consortium (BVMC) Tags: Perspectives in Pediatric Neurology Source Type: research

Extracranial internal carotid artery occlusive dissection - multimodality presentation in a case series.
CONCLUSIONS: Careful interpretation of imaging findings on various imaging modalities can lead to early and accurate diagnosis of carotid dissection. PMID: 30539689 [PubMed - as supplied by publisher]
Source: VASA. Zeitschrift fur Gefasskrankheiten. Journal for Vascular Diseases - December 12, 2018 Category: Surgery Authors: Rafailidis V, Notas K, Destanis E, Kouskouras K, Chryssogonidis I, Xerras C, Charitanti-Kouridou A, Tegos T Tags: Vasa Source Type: research

Simultaneous 18F-FDG PET/MRI Assists Diagnosis of a Rare Disease, MELAS
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a rare congenital mitochondrial DNA mutation disease. Here, we report a 4-year-old girl, who presented with short stature, mental retardation, and recurrent seizures, underwent simultaneous 18F-FDG PET/MRI examination. An interesting contradiction images were found on bilateral frontal, left temporal, occipital, and parietal lobes, which were with high blood flow shown on 3D-ASL perfusion images, but low uptake of 18F-FDG on PET images. The contradiction of high blood flow and low glucose metabolism gave us a clue to make the diagnosis of...
Source: Clinical Nuclear Medicine - December 23, 2018 Category: Nuclear Medicine Tags: Interesting Images Source Type: research

Perioperative management of intramyocardial hydatid cyst with off-pump technique.
We present a case report of an asymptomatic case of off-pump removal of intramyocardial hydatid cyst. A 21-year-old male presented asymptomatically and was diagnosed with a hydatid cyst incidentally during a regular checkup. Echocardiography and cardiac computed tomography angiography images demonstrated an intramyocardial hydatid cyst on the lateral aspect of the left ventricle with slight extension over the anterior and posterior regions. Important aspects of diagnosis and management specific to cardiac hydatid cyst along with the review of literature have been discussed. PMID: 30648688 [PubMed - in process]
Source: Annals of Cardiac Anaesthesia - January 1, 2019 Category: Anesthesiology Authors: Gupta Y, Priyadarshi M Tags: Ann Card Anaesth Source Type: research

AHA News: After 4 Strokes, Rare Disease and Brain Surgery, Woman Helps Others
WEDNESDAY, March 27, 2019 (American Heart Association News) -- When Lisa Deck was chosen as a Go Red for Women national spokeswoman in 2014, she was thrilled to have a larger platform to help raise awareness about heart disease and stroke. She had...
Source: Drugs.com - Daily MedNews - March 27, 2019 Category: General Medicine Source Type: news

New report shows nearly 20 innovative medicines in development for sickle cell disease
Sickle cell disease (SCD) is the most common inherited blood disorder in the United States, afflicting nearly 100,000 Americans. Patients with SCD have sickle-shaped red blood cells, which have trouble moving through the blood vessels and thus cause blockages or slow blood flow and oxygen to parts of the body. SCD is life-threatening, due to potential complications from blocked blood vessels, which can include stroke, difficulty breathing, pulmonary hypertension and other organ damage.
Source: The Catalyst - April 2, 2019 Category: Pharmaceuticals Tags: Medicines in Development Research and Development Rare Diseases New Era of Medicine Source Type: news