Abstract：
BACKGROUND:This study describes the natural history of Barth syndrome (BTHS). METHODS:The medical records of all patients with BTHS living in France were identified in multiple sources and reviewed. RESULTS:We identified 16 BTHS pedigrees that included 22 patients. TAZ mutations were observed in 15 pedigrees. The estimated incidence of BTHS was 1.5 cases per million births (95%CI: 0.2-2.3). The median age at presentation was 3.1 weeks (range, 0-1.4 years), and the median age at last follow-up was 4.75 years (range, 3-15 years). Eleven patients died at a median age of 5.1 months; 9 deaths were related to cardiomyopathy and 2 to sepsis. The 5-year survival rate was 51%, and no deaths were observed in patients ≥3 years. Fourteen patients presented with cardiomyopathy, and cardiomyopathy was documented in 20 during follow-up. Left ventricular systolic function was very poor during the first year of life and tended to normalize over time. Nineteen patients had neutropenia. Metabolic investigations revealed inconstant moderate 3-methylglutaconic aciduria and plasma arginine levels that were reduced or in the low-normal range. Survival correlated with two prognostic factors: severe neutropenia at diagnosis (<0.5 × 109/L) and birth year. Specifically, the survival rate was 70% for patients born after 2000 and 20% for those born before 2000. CONCLUSIONS:This survey found that BTHS outcome was affected by cardiac events and by a risk of infection that was related to neutropenia. Modern management of heart failure and prevention of infection in infancy may improve the survival of patients with BTHS without the need for heart transplantation.
journal_name
Orphanet J Rare Disjournal_title
Orphanet journal of rare diseasesauthors
Rigaud C,Lebre AS,Touraine R,Beaupain B,Ottolenghi C,Chabli A,Ansquer H,Ozsahin H,Di Filippo S,De Lonlay P,Borm B,Rivier F,Vaillant MC,Mathieu-Dramard M,Goldenberg A,Viot G,Charron P,Rio M,Bonnet D,Donadieu Jdoi
10.1186/1750-1172-8-70subject
Has Abstractpub_date
2013-05-08 00:00:00pages
70issn
1750-1172pii
1750-1172-8-70journal_volume
8pub_type
杂志文章abstract：:Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an estimated incidence of 1:8.000. Patients present with h...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-7-32
更新日期：2012-05-29 00:00:00
abstract：:Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal motility disorder with significant morbidity and mortality in pediatric patients. The diagnosis of CIPO is difficult, because it is clinically based on the symptoms and signs of bowel obstruction which are similar to the clinical manifestations of other...
journal_title：Orphanet journal of rare diseases
pub_type： 信件
doi：10.1186/s13023-017-0615-3
更新日期：2017-03-28 00:00:00
abstract：BACKGROUND:Lysosomal acid lipase deficiency (LALD) is an autosomal recessive inborn error of lipid metabolism characterized by impaired lysosomal hydrolysis and consequent accumulation of cholesteryl esters and triglycerides. The phenotypic spectrum is diverse, ranging from severe, neonatal onset failure to thrive, hep...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-020-1328-6
更新日期：2020-02-24 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
pub_type： 杂志文章
doi：10.1186/1750-1172-2-2
更新日期：2007-01-08 00:00:00
abstract：:The European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in the future, in addition to helping strengthen liaison at both European and International...
journal_title：Orphanet journal of rare diseases
pub_type： 社论
doi：10.1186/1750-1172-9-30
更新日期：2014-02-28 00:00:00
abstract：BACKGROUND:Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and consequently improve their guideline adherence. Although there is substantial research on the factor...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1173-7
更新日期：2019-08-20 00:00:00
abstract：BACKGROUND:In spite of recent major advances in the understanding and treatment of inhibitor development in patients with haemophilia, multidisciplinary management of many of these patients remains suboptimal and highly heterogenous across Europe. METHODS:Following a series of multidisciplinary meetings and a review o...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-018-0800-z
更新日期：2018-04-27 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
pub_type： 杂志文章
doi：10.1186/s13023-016-0548-2
更新日期：2016-12-07 00:00:00
abstract：BACKGROUND:While skin carcinomas are reported in chronic ulcers and in patients treated with hydroxyurea (HU) for myeloproliferative neoplasms, no skin carcinoma has been reported in patients with sickle cell disease (SCD), presenting chronic skin ulcers or treated with HU. The objective was to estimate the risk of cut...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-020-1341-9
更新日期：2020-03-06 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
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-2-33
更新日期：2007-07-26 00:00:00
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
pub_type： 杂志文章
doi：10.1186/s13023-018-0949-5
更新日期：2018-11-22 00:00:00
abstract：:The European Reference Network for rare liver diseases (ERN RARE-LIVER) is a Europe-wide network of paediatric and adult hepatologists from expert centres in close collaboration with patient advocates from the various disease-areas covered in our ERN. The ERN is focused on providing more equitable care across Europe a...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1152-z
更新日期：2019-07-08 00:00:00
abstract：BACKGROUND:Hunter syndrome (mucopolysaccharidosis type II (MPS II)) is a rare metabolic disease that can severely compromise health, well-being and life expectancy. Little evidence has been published on the impact of MPS II on health-related quality of life (HRQL). The objective of this study was to describe this impac...
journal_title：Orphanet journal of rare diseases
pub_type： 临床试验,杂志文章
doi：10.1186/1750-1172-8-101
更新日期：2013-07-10 00:00:00
abstract：:Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-017-0616-2
更新日期：2017-04-04 00:00:00
abstract：:Medical student training is largely focused on acquiring knowledge of diseases and their management, which may leave one with a naïve perception of what is achievable in practice, particularly in the field of rare diseases. Tumour Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is a rare autoinflammatory...
journal_title：Orphanet journal of rare diseases
pub_type： 信件
doi：10.1186/s13023-018-0774-x
更新日期：2018-02-27 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
pub_type： 杂志文章
doi：10.1186/s13023-019-1064-y
更新日期：2019-07-19 00:00:00
abstract：BACKGROUND:Morquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL). METHODS:This patient-reported outcomes survey evaluated the global burden of Morquio A among adults (≥18 years, N = 27) and chi...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-9-32
更新日期：2014-03-07 00:00:00
abstract：BACKGROUND:Neurofibromatosis type 1 is an inherited condition with variable phenotypic expression and a high medical and social burden. The objectives of this patient survey were to better understand the real-world experiences of patients living with cutaneous neurofibromas (cNF), to perceive their satisfaction and fee...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1265-4
更新日期：2019-12-04 00:00:00
abstract：BACKGROUND:Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death. The study aims to provide epidemiologic data and to describe the disease manifesta...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-017-0661-x
更新日期：2017-06-15 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
pub_type： 杂志文章,评审
doi：10.1186/s13023-014-0179-4
更新日期：2014-11-26 00:00:00
abstract：BACKGROUND:Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood. Especially the contribution of glial cells and gliosis to the progression of NPC1, are controversially dis...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-017-0697-y
更新日期：2017-08-25 00:00:00
abstract：BACKGROUND:Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. METHODS:In this review, we summar...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-018-0856-9
更新日期：2018-07-11 00:00:00
abstract：BACKGROUND:Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first signs, leading to end-stage renal disease between the age of 12 and 16. Other symptoms occur later and encompass endocrinopathies, distal myopathy and de...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1271-6
更新日期：2020-02-26 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
pub_type： 杂志文章
doi：10.1186/s13023-014-0214-5
更新日期：2014-12-24 00:00:00
abstract：BACKGROUND:The diagnosis of rare diseases poses a particular challenge to clinicians. This study analyzes whether patients' pain drawings (PDs) help in the differentiation of two pain-associated rare diseases, Ehlers-Danlos Syndrome (EDS) and Guillain-Barré Syndrome (GBS). METHOD:The study was designed as a prospectiv...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-020-01542-1
更新日期：2020-11-17 00:00:00
abstract：BACKGROUND:Major haemoglobinopathies (MH), such as thalassaemia syndromes (Thal) and sickle cell disorders (SCD), are genetic defects associated with chronic anaemia and other complications. In Europe, MH are rare diseases (RD) but their prevalence is significantly growing in many countries due to mobility and migratio...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-9-97
更新日期：2014-07-01 00:00:00
abstract：:Biliary atresia (BA) is a rare disease characterised by a biliary obstruction of unknown origin that presents in the neonatal period. It is the most frequent surgical cause of cholestatic jaundice in this age group. BA occurs in approximately 1/18,000 live births in Western Europe. In the world, the reported incidence...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-1-28
更新日期：2006-07-26 00:00:00
abstract：BACKGROUND:Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents a...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-015-0358-y
更新日期：2015-10-26 00:00:00
abstract：:Patent arterial duct (PAD) is a congenital heart abnormality defined as persistent patency in term infants older than three months. Isolated PAD is found in around 1 in 2000 full term infants. A higher prevalence is found in preterm infants, especially those with low birth weight. The female to male ratio is 2:1. Most...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-4-17
更新日期：2009-07-10 00:00:00
abstract：BACKGROUND:Fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP) is a form of tumor progression of dermatofibrosarcoma protuberans (DFSP) with an increased risk of metastasis and recurrence. Few studies have compared the clinicopathological features of FS-DFSP and conventional DFSP (C-DFSP). OBJECTIVES:To better ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-021-01698-4
更新日期：2021-01-26 00:00:00
