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"Rare diseases"

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https://www.readbyqxmd.com/read/28222034/three-cases-of-gordon-syndrome-with-dominant-klhl3-mutations
#1
Ji Soo Park, Eujin Park, Hye Sun Hyun, Yo Han Ahn, Hee Gyung Kang, Il-Soo Ha, Hae Il Cheong
BACKGROUND: Gordon syndrome (GS) is a rare form of monogenic hypertension characterized by low renin hypertension, hyperkalemia, hyperchloremic metabolic acidosis, and normal glomerular filtration rate. To date, four genes causing GS have been identified as: WNK1, WNK4, CUL3, and KLHL3. CASE REPORT: We report three cases of GS in two families. All patients presented with typical clinical features of GS and had a known dominant KLHL3 mutation. Oral thiazide treatment with low salt diet resulted in normalization of blood pressure and serum electrolytes in all three cases...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28220375/cardiac-cephalalgia-one-case-with-cortical-hypoperfusion-in-headaches-and-literature-review
#2
REVIEW
Miao Wang, Lu Wang, Changfu Liu, Xiangbing Bian, Zhao Dong, Shengyuan Yu
BACKGROUND: Cardiac cephalalgia (CC) is a rare disease occurring during an episode of myocardial ischemia and relieved by nitroglycerine. Though more than 30 cases of CC have been reported since 1997, the mechanism is yet obscure. Herein, a case of CC is presented and discussed in relevance with previous literature to propose a novel hypothesis about the mechanism of CC. METHOD: A CC patient with cortical hypoperfusion during headache attacks was presented, which has never been reported...
December 2017: Journal of Headache and Pain
https://www.readbyqxmd.com/read/28220263/characterization-and-outcome-of-41-patients-with-beta-ketothiolase-deficiency-10%C3%A2-years-experience-of-a-medical-center-in-northern-vietnam
#3
Khanh Ngoc Nguyen, Elsayed Abdelkreem, Roberto Colombo, Yuki Hasegawa, Ngoc Thi Bich Can, Thao Phuong Bui, Hai Thanh Le, Mai Thi Chi Tran, Hoan Thi Nguyen, Hung Thanh Trinh, Yuka Aoyama, Hideo Sasai, Seiji Yamaguchi, Toshiyuki Fukao, Dung Chi Vu
Beta-ketothiolase (T2) deficiency is an inherited disease of isoleucine and ketone body metabolism caused by mutations in the ACAT1 gene. Between 2005 and 2016, a total of 41 patients with T2 deficiency were identified at a medical center in northern Vietnam, with an estimated incidence of one in 190,000 newborns. Most patients manifested ketoacidotic episodes of varying severity between 6 and 18 months of age. Remarkably, 28% of patients showed high blood glucose levels (up to 23.3 mmol/L). Ketoacidotic episodes recurred in 43% of patients...
February 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28217611/pyoderma-gangrenosum-a-clinician-s-nightmare
#4
Bindhu Bhaskaran, Mittu John Mathew, K N Vijayan, Asha Zacharia
Pyoderma gangrenosum (PG) is a rare disease and that affecting specifically the sole of the foot, is even rarer. Here, we report the case of a 54-year-old female admitted with a painful ulcer on the sole of the right foot which was initially treated with empirical antibiotics and debridement. The disease was found to spread rapidly after each debridement. The culture reports were negative; rheumatology workup and Doppler study were within normal limits. A clinical suspicion of PG was made and was confirmed with tissue biopsy...
July 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/28217162/a-rare-case-of-giant-occipital-meningocele-with-dandy-walker-syndrome-can-it-grow-bigger-than-this
#5
Dipanker Singh Mankotia, Guru Dutta Satyarthee, Bhoopendra Singh, Bhawani Shankar Sharma
Association of Dandy-Walker syndrome with occipital meningocele (OMC) is extremely rare and about thirty cases are reported till date in the Western literature. However, OMC is classified by Talamonti et al. into small, large, and giant categories with respective diameters were upto 5 cm in small, large with 5-9 cm, and giant with >9 cm. Usually the size of OMC progressively increases as raised intracranial pressure leads to compensatory cerebrospinal fluid escape into sac with the growth of children. Authors report an interesting case of an 18-month-old female child with extra-gigantic OMC, whose size was almost same since birth, representing the first case of its kind, who underwent successful surgical repair...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28216508/-idiopathic-mesenteric-phlebosclerosis-one-case-report-and-literature-review
#6
Yonghong Jiang, Shan Huang, Kequan Chen, Xueqing Chen
Idiopathic mesenteric phlebosclerosis (IMP) is a rare disease and it is easy to be misdiagnosed, which is characterized by intestinal obstruction symptoms, such as abdominal pain, bloating and vomiting. In this study, a case of IMP was observed and the literatures were reviewed. Computed tomography shows funicular high-density shadow and vascular calcification shadow along the vessels around the bowels. Narrow band imaging (M-NBI) endoscopy revealed the disappeared honeycomb capillary, the disordered microvascular structure and the increased density of blood vessels...
January 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28215594/adult-onset-satoyoshi-syndrome-in-a-young-male
#7
Vinícius Viana Abreu Montanaro, Thiago Falcão Hora, Christian Marques Couto, Flavio Diniz Ribas
Satoyoshi syndrome is a rare condition of presumed autoimmune etiology that is characterized by intermittent painful spasms, diarrhea, hair loss, and bone abnormalities. We report the first case of adult onset Satoyoshi syndrome in South America. A 32-year-old Caucasian male presented with sudden involuntary muscle contractions and painful cramps that had started at the age of 21. He also presented with trismus and complete loss of body hair. Electroneuromyography showed abnormal spontaneous activity. Diagnosis of Satoyoshi syndrome was made after extensive investigation; improvement was achieved with corticosteroids and azathioprine...
January 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28214109/a-novel-mutation-in-trem2-gene-causing-nasu-hakola-disease-and-review-of-the-literature
#8
Efthimios Dardiotis, Vasileios Siokas, Eva Pantazi, Maria Dardioti, Dimitrios Rikos, Georgia Xiromerisiou, Aikaterini Markou, Dimitra Papadimitriou, Matthaios Speletas, Georgios M Hadjigeorgiou
Nasu-hakola disease (NHD) is a rare disease characterized by bone cysts and fractures, frontal lobe syndrome, and progressive presenile dementia. NHD may be the prototype of primary microglial disorders of the CNS or, as they have been coined, "microgliopathies". Mutations in TREM2 and TYROBP genes are known to cause NHD. Interestingly, recent evidence-associated rare genetic variants of TREM2 gene with increased risk of Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, and Parkinson's disease...
January 20, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28212975/budget-impact-analysis-of-prolonged-half-life-recombinant-fviii-therapy-for-hemophilia-in-the-united-states
#9
Suzanne McMullen, Brieana Buckley, Eric Hall, Jon Kendter, Karissa Johnston
BACKGROUND: Hemophilia A is a factor VIII deficiency, associated with spontaneous, recurrent bleeding episodes. This may lead to comorbidities such as arthropathy and joint replacement, which contribute to morbidity and increased health care expenditure. Recombinant factor VIII Fc fusion protein (rFVIIIFc), a prolonged half-life factor therapy, requires fewer infusions, resulting in reduced treatment burden. OBJECTIVE: Use a budget impact analysis to assess the potential economic impact of introducing rFVIIIFc to a formulary from the perspective of a private payer in the United States...
January 2017: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/28211645/disability-and-inclusive-education-in-an-italian-region-analysis-of-the-data-for-the-school-year-2012-2013
#10
Evamaria Lanzarini, Antonia Parmeggiani
BACKGROUND: In Italy, pupils with disabilities enroll in mainstream schools and attend the ordinary classes at all educational levels. For the past twelve years, the Region Emilia Romagna has witnessed an increase in the number of children who are in need of special support. The aim of the study was to identify the causes of disability in children attending public schools during the school year 2012-2013. METHODS: The study was designed as a cross-sectional survey...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28211264/genetics-diagnosis-and-clinical-features-of-congenital-hypodysfibrinogenaemia-a-systematic-literature-review-and-report-of-a-novel-mutation
#11
A Casini, T Brungs, C Lavenu-Bombled, R Vilar, M Neerman-Arbez, P de Moerloose
BACKGROUND: Hypodysfibrinogenaemia is a rare disease characterised by decreased levels of a dysfunctional fibrinogen. It shares features with both hypo- and dysfibrinogenaemia, although with specific molecular patterns and clinical phenotypes. OBJECTIVES: To better define the genetics, the diagnosis and the clinical features of hypodysfibrinogenaemia. PATIENTS/METHODS: A systematic literature search led to 167 records. After removal of duplicates, abstract screening and full-text reviewing, 56 molecular and/or clinical studies were analysed, including a novel FGB missense mutation in a woman with a mild bleeding phenotype...
February 16, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28210839/thrombotic-microangiopathy-caused-by-methionine-synthase-deficiency-diagnosis-and-treatment-pitfalls
#12
Maria Helena Vaisbich, Andressa Braga, Maria Gabrielle, Clarissa Bueno, Flávia Piazzon, Fernando Kok
BACKGROUND: Inborn errors of cobalamin (Cbl) metabolism form a large group of rare diseases. One of these, Cbl deficiency type C (CblC), is a well-known cause of thrombotic microangiopathy (TMA), especially in infants. However, there has only been a single published case of TMA associated to Cbl deficiency type G (CblG), also known as methionine synthase deficiency (MSD). CASE DIAGNOSIS/TREATMENT: A 21-month-old boy presented with pallor and oral ulcers during episodes of upper respiratory infection (URI)...
February 16, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28210639/an-interesting-case-of-tolosa-hunt-syndrome-in-a-young-male
#13
Ghulam Murtaza, Nicholas Konowitz, Hannah Lu, Anadil Faqah, Aneesh Kuruvilla
Tolosa-Hunt syndrome is a rare disease with a limited number of cases reported in the literature. It typically presents with orbital pain associated with palsy of the third, fourth, or sixth cranial nerve. We present an interesting case of Tolosa-Hunt syndrome in a young male who responded well to high-dose steroids and in a few days had significant improvement in his retro-orbital pain and ocular movements.
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28210512/porphyria-cutanea-tarda-in-a-patient-with-end-stage-renal-disease-a-case-of-successful-treatment-with-deferoxamine-and-ferric-carboxymaltose
#14
Natacha Rodrigues, Fernando Caeiro, Alice Santana, Teresa Mendes, Leonor Lopes
Porphyria cutanea tarda (PCT) is a rare disease, with a strong association with hepatitis C virus. PCT is particularly problematic in end-stage renal disease patients as they have no renal excretion of porphyrins and these are poorly dialyzed. Also, conventional treatment of PCT is compromised in these patients as hydroxychloroquine is contraindicated, phlebotomies with the stipulated frequency are poorly tolerated in already anaemia-prone patients, and iron-chelating agents are less efficient in removing iron and contribute to worsening anaemia...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/28210315/news
#15
REVIEW
(no author information available yet)
Rare diseases are defined by a limited prevalence of ≤5 cases per 10 000 individuals in Europe [1]. This definition includes around 8000 diseases, many of which are unknown not only to the public but also to the vast majority of healthcare professionals and text books. It is estimated that, as a whole, rare diseases affect around 25 to 30 million people in Europe. Most rare diseases are chronic and debilitating and appear in early childhood or young adulthood, accounting for a significant proportion of infant mortality and childhood/life-long disability...
December 2016: Breathe
https://www.readbyqxmd.com/read/28207528/idiopathic-retroperitoneal-fibrosis-causing-unilateral-ureteral-and-sigmoid-colon-obstruction-a-case-report
#16
Ting Yan, Yujuan Wang, Zhijun Liu, Xiaolei Zhang, Qian Wu, Mingrong Xi
OBJECTIVE: The present report aimed to present a unique case of idiopathic retroperitoneal fibrosis (RPF) presenting features of unilateral ureteral and sigmoid colon obstruction. RPF is a rare disorder with unclear etiology. CASE REPORT: A 43-year-old female had a 10-day history of lower right abdominal and lumbar pain. Gynecological examination, ultrasound, and computed tomography (CT) were all suggestive of right ovarian tumor. An enhanced CT showed right-sided hydronephrosis...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28206985/-huntington-s-disease-in-balearic-islands-population-based-registry-of-rare-diseases-prevalence-and-mortality-during-the-period-2010-2013-spain
#17
Mercedes Cáffaro Rovira, M Magdalena Salom Castell
OBJECTIVE: Huntington's disease is a hereditary disease with low prevalence. The low frequency of Huntington's disease leads to its inclusion as one of the pathologies in the Registry of Rare Diseases. The Balearic Islands Population-based Registry of Rare Diseases began in 2010. Previously, there had been no prevalence or mortality data for Huntington's disease in the Balearic Islands. The aim of this study was to determine the prevalence and mortality of Huntington's disease in the Balearic Islands between 2010 and 2013...
February 16, 2017: Revista Española de Salud Pública
https://www.readbyqxmd.com/read/28205180/methods-for-monitoring-abca1-dependent-sterol-release
#18
Yoshio Yamauchi, Shinji Yokoyama, Ta-Yuan Chang
Releasing sterols to the extracellular milieu is an important part of sterol homeostasis in cells and in the body. ATP-binding cassette transporter A1 (ABCA1) plays an essential role in cellular phospholipid and sterol release to lipid-free or lipid-poor apolipoprotein A-I (apoA-I), the major apolipoprotein in high-density lipoprotein (HDL), and constitutes the first step in the formation of nascent HDL. Loss-of-function mutations in the ABCA1 gene lead to a rare disease known as Tangier disease that causes severe deficiency in plasma HDL level...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28203625/cutaneous-plasmacytosis-resembling-pityriasis-rosea-in-a-66-year-old-white-woman-a-rare-disease-presenting-in-an-unusual-patient-demographic
#19
Jennifer Bares, Apphia Wang, Peter Pavlidakey, Diego De Idiaquez Bakula, Boni Elewski
No abstract text is available yet for this article.
January 2017: JAAD Case Reports
https://www.readbyqxmd.com/read/28203428/multiple-cavitating-pulmonary-nodules-rare-manifestation-of-benign-metastatic-leiomyoma
#20
Sa Ra Lee, Youn-I Choi, Seok Jeong Lee, Sung Shine Shim, Jin Hwa Lee, Yoo Kyung Kim, Soon Hee Sung
Benign metastasizing leiomyoma (BML) is a rare disease of pathologically benign, but the tumor metastasizes to other organs. The most common organ involved in BML is lung. Pulmonary involvement usually manifested as multiple nodules on chest X-ray, however we experienced an interesting case of a 52-year-old premenopausal woman who presented with multiple bilateral lung cavitations and nodules on a chest X-ray without any respiratory symptoms. Chest computed-tomography identified multiple cavitary lesions of 5-12 mm in diameter and well-defined nodules of 5-10 mm in diameter in both lung fields...
January 2017: Journal of Thoracic Disease
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