Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule.

abstract：BACKGROUND:It has been suggested that ultra-rare diseases should be recognized as distinct from more prevalent rare diseases, but how drugs developed to treat ultra-rare diseases (DURDs) might be distinguished from drugs for 'other' rare diseases (DORDs) is not clear. We compared the characteristics of DURDs to DORDs f...

journal_title：Orphanet journal of rare diseases

authors： Richter T,Janoudi G,Amegatse W,Nester-Parr S

更新日期：2018-02-01 00:00:00

abstract：BACKGROUND:The efficacy of thymectomy in patients with non-thymomatous Myasthenia Gravis (MG) is still unclear. Main limitations have been variable outcome definitions, lack of a control group and adjustment for confounding. OBJECTIVE:To study the efficacy of thymectomy in achieving remission or minimal manifestation ...

journal_title：Orphanet journal of rare diseases

authors： Barnett C,Katzberg HD,Keshavjee S,Bril V

更新日期：2014-12-24 00:00:00

abstract：BACKGROUND:The concept of individual burden, associated with disease, has been introduced recently to determine the "disability" caused by the pathology in the broadest sense of the word (psychological, social, economic, physical). Inherited ichthyosis belong to a large heterogeneous group of Mendelian Disorders of Cor...

journal_title：Orphanet journal of rare diseases

authors： Dufresne H,Hadj-Rabia S,Méni C,Sibaud V,Bodemer C,Taïeb C

更新日期：2013-02-15 00:00:00

abstract：BACKGROUND:Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome. About 10...

journal_title：Orphanet journal of rare diseases

authors： Ravn K,Roende G,Duno M,Fuglsang K,Eiklid KL,Tümer Z,Nielsen JB,Skjeldal OH

更新日期：2011-08-30 00:00:00

abstract：BACKGROUND:The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics. METHODS:A cross-sectional study was conducted of a cohort of 206 patients studied in the HHT Unit of Hospital de Sierra...

journal_title：Orphanet journal of rare diseases

authors： Gómez-Acebo I,Prado SR,De La Mora Á,Puente RZ,de la Roza Varela B,Dierssen-Sotos T,Llorca J

更新日期：2020-06-29 00:00:00

abstract：BACKGROUND:Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the characteristics of patients with urea cycle disorders in Spain. METHODS:Observational, cross-sectional and multicenter study. Clinical, biochemical and gene...

journal_title：Orphanet journal of rare diseases

authors： Martín-Hernández E,Aldámiz-Echevarría L,Castejón-Ponce E,Pedrón-Giner C,Couce ML,Serrano-Nieto J,Pintos-Morell G,Bélanger-Quintana A,Martínez-Pardo M,García-Silva MT,Quijada-Fraile P,Vitoria-Miñana I,Dalmau J,Lama-More RA,Bue

更新日期：2014-11-30 00:00:00

abstract：BACKGROUND:Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These progeroid syndromes are defined as segmental because only some of the features observed during natural aging are accelerated. METHODS:Since 2015, the M...

journal_title：Orphanet journal of rare diseases

authors： Grelet M,Blanck V,Sigaudy S,Philip N,Giuliano F,Khachnaoui K,Morel G,Grotto S,Sophie J,Poirsier C,Lespinasse J,Alric L,Calvas P,Chalhoub G,Layet V,Molin A,Colson C,Marsili L,Edery P,Lévy N,De Sandre-Giovannoli A

更新日期：2019-12-11 00:00:00

abstract：BACKGROUND:Rare diseases can lead to a significant reduction in quality of life for patients and their families. Ensuring the patients voice is central to clinical decision making is key to delivering, evaluating and understanding the efficacy of therapeutic interventions. Patient reported outcome measures (PROMs) are ...

journal_title：Orphanet journal of rare diseases

authors： Slade A,Isa F,Kyte D,Pankhurst T,Kerecuk L,Ferguson J,Lipkin G,Calvert M

更新日期：2018-04-23 00:00:00

abstract：BACKGROUND:Dravet syndrome (DS) is currently considered as an epileptic encephalopathy, a condition in which epilepsy causes deterioration or developmental delay but preliminary data suggested that cognitive course may worsen independently from epilepsy. Our objective was to prospectively analyze the neuropsychological...

journal_title：Orphanet journal of rare diseases

authors： Nabbout R,Chemaly N,Chipaux M,Barcia G,Bouis C,Dubouch C,Leunen D,Jambaqué I,Dulac O,Dellatolas G,Chiron C

更新日期：2013-11-13 00:00:00

abstract：BACKGROUND:Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiology of sIBM is still unknown; however, genetic factors, aging, lifestyles, and environmental factors ...

journal_title：Orphanet journal of rare diseases

authors： Suzuki N,Mori-Yoshimura M,Yamashita S,Nakano S,Murata KY,Inamori Y,Matsui N,Kimura E,Kusaka H,Kondo T,Higuchi I,Kaji R,Tateyama M,Izumi R,Ono H,Kato M,Warita H,Takahashi T,Nishino I,Aoki M

更新日期：2016-11-08 00:00:00

abstract：:Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency. Profound developmental delay, progressive failure to thrive and acquired microceph...

journal_title：Orphanet journal of rare diseases

authors： Byrne S,Dionisi-Vici C,Smith L,Gautel M,Jungbluth H

更新日期：2016-02-29 00:00:00

abstract：BACKGROUND:Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease leading to dysfunction of multiple organs. SMA can impair the quality of life (QoL) of patients and family. We aimed to evaluate the QoL of children with SMA and their caregivers and to identify the factors associated with QoL in a ...

journal_title：Orphanet journal of rare diseases

authors： Yao M,Ma Y,Qian R,Xia Y,Yuan C,Bai G,Mao S

更新日期：2021-01-06 00:00:00

abstract：BACKGROUND:A study was designed to identify the source of fever in a patient with post-polycythemia myelofibrosis, associated with clonal Janus Kinase 2 (JAK2) mutation involving duplication of exon 12. The patient presented with 1-2 day long self-limited periodic episodes of high fever that became more frequent as the...

journal_title：Orphanet journal of rare diseases

authors： Shinar Y,Tohami T,Livneh A,Schiby G,Hirshberg A,Nagar M,Goldstein I,Cohen R,Kukuy O,Shubman O,Sharabi Y,Gonzalez-Roca E,Arostegui JI,Rechavi G,Amariglio N,Salomon O

更新日期：2015-06-30 00:00:00

abstract：BACKGROUND:The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. It is an autosomal dominant disorder mostly caused by de novo variants in TUBA1A. RESULTS:In three individuals with developmental delay w...

journal_title：Orphanet journal of rare diseases

authors： Hebebrand M,Hüffmeier U,Trollmann R,Hehr U,Uebe S,Ekici AB,Kraus C,Krumbiegel M,Reis A,Thiel CT,Popp B

更新日期：2019-02-11 00:00:00

abstract：BACKGROUND:X-linked Duchenne muscular dystrophy (DMD), the most frequent human hereditary skeletal muscle myopathy, inevitably leads to progressive dilated cardiomyopathy. We assessed the effect and safety of a combined treatment with the ACE-inhibitor enalapril and the β-blocker metoprolol in a German cohort of infant...

journal_title：Orphanet journal of rare diseases

authors： Dittrich S,Graf E,Trollmann R,Neudorf U,Schara U,Heilmann A,von der Hagen M,Stiller B,Kirschner J,Pozza RD,Müller-Felber W,Weiss K,von Au K,Khalil M,Motz R,Korenke C,Lange M,Wilichowski E,Pattathu J,Ebinger F,Wiec

更新日期：2019-05-10 00:00:00

abstract：BACKGROUND:Registration of trigger factors, prodromal symptoms, swelling localization, therapeutic behavior and gender-specific differences of the largest cohort of patients with hereditary angioedema due to C1-Inhibitor deficiency (C1-INH-HAE) in Switzerland. METHODS:Questionnaire survey within a cohort study: Consen...

journal_title：Orphanet journal of rare diseases

authors： Steiner UC,Weber-Chrysochoou C,Helbling A,Scherer K,Grendelmeier PS,Wuillemin WA

更新日期：2016-04-21 00:00:00

abstract：:Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in...

journal_title：Orphanet journal of rare diseases

authors： Pauli RM

更新日期：2019-01-03 00:00:00

abstract：:Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private component, in which patients pay personally for medical services. Seve...

journal_title：Orphanet journal of rare diseases

authors： Giugliani R,Vairo FP,Riegel M,de Souza CF,Schwartz IV,Pena SD

更新日期：2016-06-10 00:00:00

abstract：BACKGROUND:Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Niemann-Pick type A/B) and chronic visceral ASMD (Niemann-Pick type B). We conduc...

journal_title：Orphanet journal of rare diseases

authors： Lipiński P,Kuchar L,Zakharova EY,Baydakova GV,Ługowska A,Tylki-Szymańska A

更新日期：2019-02-22 00:00:00

abstract：UNLABELLED:DEFINITION AND CLINICAL PICTURE: We propose the minimal definition of Dercum's disease to be generalised overweight or obesity in combination with painful adipose tissue. The associated symptoms in Dercum's disease include fatty deposits, easy bruisability, sleep disturbances, impaired memory, depression, di...

journal_title：Orphanet journal of rare diseases

authors： Hansson E,Svensson H,Brorson H

更新日期：2012-04-30 00:00:00

abstract：BACKGROUND:In Taiwan, DNA-based newborn screening showed a surprisingly high incidence of a cardiac Fabry mutation (IVS4 + 919G > A). The prevalence of this mutation is too high to be believed that it is a real pathogenic mutation. The purpose of this study is to identify the cardiac pathologic characteristics in patie...

journal_title：Orphanet journal of rare diseases

authors： Hsu TR,Sung SH,Chang FP,Yang CF,Liu HC,Lin HY,Huang CK,Gao HJ,Huang YH,Liao HC,Lee PC,Yang AH,Chiang CC,Lin CY,Yu WC,Niu DM

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:Charcot-Marie-Tooth type 1A disease (CMT1A) is a rare orphan inherited neuropathy caused by an autosomal dominant duplication of a gene encoding for the structural myelin protein PMP22, which induces abnormal Schwann cell differentiation and dysmyelination, eventually leading to axonal suffering then loss an...

journal_title：Orphanet journal of rare diseases

authors： Attarian S,Vallat JM,Magy L,Funalot B,Gonnaud PM,Lacour A,Péréon Y,Dubourg O,Pouget J,Micallef J,Franques J,Lefebvre MN,Ghorab K,Al-Moussawi M,Tiffreau V,Preudhomme M,Magot A,Leclair-Visonneau L,Stojkovic T,Bossi L

更新日期：2014-12-18 00:00:00

abstract：:Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on chromosome 2q33-qter and contains ni...

journal_title：Orphanet journal of rare diseases

authors： Nie S,Chen G,Cao X,Zhang Y

更新日期：2014-11-26 00:00:00

abstract：BACKGROUND:McCune-Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few individuals with MAS have been reported in Korea. We describe the various clinical and endocrine manif...

journal_title：Orphanet journal of rare diseases

authors： Cho EK,Kim J,Yang A,Ki CS,Lee JE,Cho SY,Jin DK

更新日期：2016-08-09 00:00:00

abstract：:Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 bir...

journal_title：Orphanet journal of rare diseases

authors： Davit-Spraul A,Gonzales E,Baussan C,Jacquemin E

更新日期：2009-01-08 00:00:00

abstract：BACKGROUND:Most orphan drugs do not meet traditional standards of cost-effectiveness. Yet, most orphan drugs are reimbursed, which implies that other factors are taken into account at the time of reimbursement. To increase accountability of decision-makers, there is a need for more transparency in the factors that play...

journal_title：Orphanet journal of rare diseases

authors： Picavet E,Cassiman D,Simoens S

更新日期：2014-09-12 00:00:00

abstract：:We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D ...

journal_title：Orphanet journal of rare diseases

authors： Al Kaissi A,Grill F,Safi H,Ben Ghachem M,Ben Chehida F,Klaushofer K

更新日期：2007-01-08 00:00:00

abstract：UNLABELLED:Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis with severe blistering. No curative treatment is available. Scientific data indicated that epigallocatechin-3-gallate (EGCG), a green tea extract, might improve the phenotype of RDEB patients. In a multicentre, randomized, crossover, ...

journal_title：Orphanet journal of rare diseases

authors： Chiaverini C,Roger C,Fontas E,Bourrat E,Bourdon-Lanoy E,Labrèze C,Mazereeuw J,Vabres P,Bodemer C,Lacour JP

更新日期：2016-03-25 00:00:00

abstract：BACKGROUND:Prader-Willi-Syndrome (PWS) is characterized by hypothalamic-pituitary dysfunction. Recent research suggests starting growth hormone-treatment (GHT) as soon as possible. The aim of this study is to analyze possible differences in auxological parameters, carbohydrate and lipid metabolism between two groups of...

journal_title：Orphanet journal of rare diseases

authors： Magill L,Laemmer C,Woelfle J,Fimmers R,Gohlke B

更新日期：2020-10-12 00:00:00

abstract：BACKGROUND:Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder with hypothalamic dysfunction, early morbid obesity with hyperphagia, and specific psychiatric phenotypes including cognitive and behavioural problems, particularly disruptive behaviours and frequent temper outbursts that preclude s...

journal_title：Orphanet journal of rare diseases

authors： Tauber M,Mantoulan C,Copet P,Jauregui J,Demeer G,Diene G,Rogé B,Laurier V,Ehlinger V,Arnaud C,Molinas C,Thuilleaux D

更新日期：2011-06-24 00:00:00