European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.

abstract：BACKGROUND:Mitochondrial disease (MD) is a heterogeneous group of disorders characterized by impaired energy production caused by abnormal oxidative phosphorylation. Diagnosis of MD is challenging given the variability in how the disease can affect an individual's neurologic, cardiovascular, ophthalmologic, or gastroen...

journal_title：Orphanet journal of rare diseases

authors： Cohen B,Balcells C,Hotchkiss B,Aggarwal K,Karaa A

更新日期：2018-11-22 00:00:00

abstract：OBJECTIVE:NUT midline carcinoma (NMC), a rare type of squamous cell carcinoma, is genetically characterised by NUT midline carcinoma family member 1 (NUTM1) gene rearrangement. NMC can arise from the lungs; however, there is no standard for the management of primary pulmonary NMC. This study aimed to confirm the clinic...

journal_title：Orphanet journal of rare diseases

authors： Xie XH,Wang LQ,Qin YY,Lin XQ,Xie ZH,Liu M,Zhang JX,Ouyang M,Liu J,Gu YY,Li SY,Zhou CZ

更新日期：2020-07-10 00:00:00

abstract：:Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem...

journal_title：Orphanet journal of rare diseases

authors： Verma AS,Fitzpatrick DR

更新日期：2007-11-26 00:00:00

abstract：OBJECTIVE:High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral nerve morphology in vivo. This study set out to characterize peripheral nerve involvement in X-linked adrenomyeloneuropathy (AMN) by HRUS. METHODS:Thirteen adults with genetically proven AMN were examined using the Ultr...

journal_title：Orphanet journal of rare diseases

authors： Rattay TW,Just J,Röben B,Hengel H,Schüle R,Synofzik M,Söhn AS,Winter N,Dammeier N,Schöls L,Grimm A

更新日期：2018-11-03 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:The diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for patients with ATTR cardiomyopathy. However, the outcome of surgically obtained fat pad biopsies has...

journal_title：Orphanet journal of rare diseases

authors： Paulsson Rokke H,Sadat Gousheh N,Westermark P,Suhr OB,Anan I,Ihse E,Pilebro B,Wixner J

更新日期：2020-10-08 00:00:00

abstract：BACKGROUND:We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their experiences regarding the management of disease, its impact on child and family life, and interacti...

journal_title：Orphanet journal of rare diseases

authors： Siddiq S,Wilson BJ,Graham ID,Lamoureux M,Khangura SD,Tingley K,Tessier L,Chakraborty P,Coyle D,Dyack S,Gillis J,Greenberg C,Hayeems RZ,Jain-Ghai S,Kronick JB,Laberge AM,Little J,Mitchell JJ,Prasad C,Siriwardena K,

更新日期：2016-12-07 00:00:00

abstract：BACKGROUND:Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Pathogenic variants in more than 20 differe...

journal_title：Orphanet journal of rare diseases

authors： Zhytnik L,Simm K,Salumets A,Peters M,Märtson A,Maasalu K

更新日期：2020-05-27 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：BACKGROUND:Primary Ciliary Dyskinesia (PCD) diagnosis relies on a combination of tests which may include (a) nasal Nitric Oxide (nNO), (b) High Speed Video Microscopy (HSVM) and (c) Transmission Electron Microscopy (TEM). There is variability in the availability of these tests and lack of universal agreement whether di...

journal_title：Orphanet journal of rare diseases

authors： Kouis P,Papatheodorou SI,Middleton N,Giallouros G,Kyriacou K,Cohen JT,Evans JS,Yiallouros PK

更新日期：2019-06-13 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: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:Huntington's disease (HD) is a devastating brain disorder with no effective treatment or cure available. The scarcity of brain tissue makes it hard to study changes in the brain and impossible to perform longitudinal studies. However, peripheral pathology in HD suggests that it is possible to study the disea...

journal_title：Orphanet journal of rare diseases

authors： Mina E,van Roon-Mom W,Hettne K,van Zwet E,Goeman J,Neri C,A C 't Hoen P,Mons B,Roos M

更新日期：2016-08-01 00:00:00

abstract：BACKGROUND:LCHADD is a long-fatty acid oxidation disorder with immediate symptoms and long-term complications. We evaluated data on clinical status, biochemical parameters, therapeutic regimens and outcome of Austrian LCHADD patients. STUDY DESIGN:Clinical and outcome data including history, diagnosis, short- and long...

journal_title：Orphanet journal of rare diseases

authors： Karall D,Brunner-Krainz M,Kogelnig K,Konstantopoulou V,Maier EM,Möslinger D,Plecko B,Sperl W,Volkmar B,Scholl-Bürgi S

更新日期：2015-02-22 00:00:00

abstract：BACKGROUND:The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders. RESULTS:We describe a highly inbred consanguineous Pakistani family with multiple affected children in 2 branches exhibiting moderately severe global developmental delay. Using h...

journal_title：Orphanet journal of rare diseases

authors： Akawi NA,Ben-Salem S,Hertecant J,John A,Pramathan T,Kizhakkedath P,Ali BR,Al-Gazali L

更新日期：2016-10-21 00:00:00

abstract：AIM:To determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis. BACKGROUND:FD is a multisystem X-linked lysosomal storage disease caused by deficient activity of alpha-galactosidase-A (α-GAL-A). Affected individuals are at risk of developing small-fibre neurop...

journal_title：Orphanet journal of rare diseases

authors： Jahan S,Sarathchandran S,Akhter S,Goldblatt J,Stark S,Crawford D,Mallett A,Thomas M

更新日期：2020-01-13 00:00:00

abstract：BACKGROUND:X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of approximately 1 in 20-25,000 individuals. Excess FGF23 activity leads t...

journal_title：Orphanet journal of rare diseases

authors： Padidela R,Nilsson O,Makitie O,Beck-Nielsen S,Ariceta G,Schnabel D,Brandi ML,Boot A,Levtchenko E,Smyth M,Jandhyala R,Mughal Z

更新日期：2020-06-30 00:00:00

abstract：BACKGROUND:Infants presenting with lysosomal acid lipase deficiency have marked failure to thrive, diarrhea, massive hepatosplenomegaly, anemia, rapidly progressive liver disease, and death typically in the first 6 months of life; the only available potential treatment has been hematopoietic stem cell transplantation, ...

journal_title：Orphanet journal of rare diseases

authors： Jones SA,Rojas-Caro S,Quinn AG,Friedman M,Marulkar S,Ezgu F,Zaki O,Gargus JJ,Hughes J,Plantaz D,Vara R,Eckert S,Arnoux JB,Brassier A,Le Quan Sang KH,Valayannopoulos V

更新日期：2017-02-08 00:00:00

abstract：:Patients with TARDBP mutations have so far been classified as ALS, sometimes with frontal lobe dysfunction. A 66-year-old patient progressively developed a severe sensory disorder, followed by a motor disorder, which evolved over nine years. Symptoms started in the left hand and slowly involved the four limbs. Investi...

journal_title：Orphanet journal of rare diseases

authors： Camdessanché JP,Belzil VV,Jousserand G,Rouleau GA,Créac'h C,Convers P,Antoine JC

更新日期：2011-02-05 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:Infantile spasms represent the catastrophic, age-specific seizure type associated with acute and long-term neurological morbidity. However, due to rarity and heterogenous determination, there is persistent uncertainty of its pathophysiological and epidemiological characteristics. The purpose of the current s...

journal_title：Orphanet journal of rare diseases

authors： Jia JL,Chen S,Sivarajah V,Stephens D,Cortez MA

更新日期：2018-11-29 00:00:00

abstract：BACKGROUND:Duchenne muscular dystrophy (DMD) manifests in males mainly by skeletal muscle impairment, but also by cardiac dysfunction. The assessment of the early phases of cardiac involvement using echocardiography is often very difficult to perform in these patients. The aim of the study was to use cardiac magnetic r...

journal_title：Orphanet journal of rare diseases

authors： Panovský R,Pešl M,Máchal J,Holeček T,Feitová V,Juříková L,Masárová L,Pešlová E,Opatřil L,Mojica-Pisciotti ML,Kincl V

更新日期：2021-01-30 00:00:00

abstract：BACKGROUND:The small cell ovarian carcinoma of the hypercalcemic type (SCCOHT) which preferably affects young women during regenerative age represents a rare and aggressive form of ovarian tumors with poor prognosis and lacks an efficient therapy. METHODS AND RESULTS:In vitro chemotherapy testing in a fluorescence ass...

journal_title：Orphanet journal of rare diseases

authors： Otte A,Rauprich F,Hillemanns P,Park-Simon TW,von der Ohe J,Hass R

更新日期：2014-08-08 00:00:00

abstract：:Pompe disease/glycogen storage disease type II, is a rare, lysosomal storage disorder associated with progressive proximal myopathy, causing a gradual loss of muscular function and respiratory insufficiency. Studies of patients with late-onset Pompe disease have used endpoints such as the 6-minute walking test (6MWT) ...

journal_title：Orphanet journal of rare diseases

authors： Lachmann R,Schoser B

更新日期：2013-10-12 00:00:00

abstract：:Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis...

journal_title：Orphanet journal of rare diseases

authors： Levitt MA,Peña A

更新日期：2007-07-26 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:Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of h...

journal_title：Orphanet journal of rare diseases

authors： Fiorillo C,Astrea G,Savarese M,Cassandrini D,Brisca G,Trucco F,Pedemonte M,Trovato R,Ruggiero L,Vercelli L,D'Amico A,Tasca G,Pane M,Fanin M,Bello L,Broda P,Musumeci O,Rodolico C,Messina S,Vita GL,Sframeli M,Gibe

更新日期：2016-07-07 00:00:00

abstract：BACKGROUND:For many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatments with uncertain clinical effectiveness. They must also consider whether and how to contribute to cl...

journal_title：Orphanet journal of rare diseases

authors： Tingley K,Coyle D,Graham ID,Chakraborty P,Wilson K,Potter BK,Canadian Inherited Metabolic Diseases Research Network.

更新日期：2021-01-12 00:00:00

abstract：BACKGROUND:A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate (VPA) during pregnancy. Recognition of the increased risks of in utero exposure to VPA ...

journal_title：Orphanet journal of rare diseases

authors： Clayton-Smith J,Bromley R,Dean J,Journel H,Odent S,Wood A,Williams J,Cuthbert V,Hackett L,Aslam N,Malm H,James G,Westbom L,Day R,Ladusans E,Jackson A,Bruce I,Walker R,Sidhu S,Dyer C,Ashworth J,Hindley D,Diaz G

更新日期：2019-07-19 00:00:00

abstract：:Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000-40...

journal_title：Orphanet journal of rare diseases

authors： Goulet O,Vinson C,Roquelaure B,Brousse N,Bodemer C,Cézard JP

更新日期：2008-02-28 00:00:00