Orphanet Journal of Rare Diseases

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The genetic basis of classical galactosaemia in Polish patients
Orphanet Journal of Rare Diseases - - 2021
Aleksandra Jezela‐Stanek, Anna Bauer, Katarzyna Wertheim–Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut–Cegielska
AbstractClassic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established by detecting elevated erythrocyte galactose-1-phosphate concentration, reduce...... hiện toàn bộ
Treatment of Satoyoshi syndrome: a systematic review
Orphanet Journal of Rare Diseases - Tập 14 - Trang 1-13 - 2019
Julián Solís-García del Pozo, Carlos de Cabo, Javier Solera
Satoyoshi syndrome is a multisystemic rare disease of unknown etiology, although an autoimmune basis is presumed. Its main symptoms are: painful muscle spasms, diarrhea, alopecia and skeletal abnormalities. Clinical course without treatment may result in serious disability or death. A review of treatment and its response is still pending. Sixty-four cases of Satoyoshi syndrome were published betwe...... hiện toàn bộ
The risks of overlooking the diagnosis of secreting pituitary adenomas
Orphanet Journal of Rare Diseases - Tập 11 - Trang 1-17 - 2016
Thierry Brue, Frederic Castinetti
Secreting pituitary adenomas that cause acromegaly and Cushing’s disease, as well as prolactinomas and thyrotroph adenomas, are uncommon, usually benign, slow-growing tumours. The rarity of these conditions means that their diagnosis is not familiar to most non-specialist physicians. Consequently, pituitary adenomas may be overlooked and remain untreated, and affected individuals may develop serio...... hiện toàn bộ
The long-term effect of mTOR inhibition on lipid and glucose metabolism in tuberous sclerosis complex: data from the Dutch TSC registry
Orphanet Journal of Rare Diseases - Tập 17 - Trang 1-8 - 2022
Femke V. M. Mulder, Evelien F. H. I. Peeters, Jan Westerink, Fried J. T. Zwartkruis, Wendela L. de Ranitz-Greven
MTOR inhibition is an effective treatment for many manifestations of tuberous sclerosis complex. Because mTOR inhibition is a disease modifying therapy, lifelong use will most likely be necessary. This study addresses the long-term effects of mTOR inhibitors on lipid and glucose metabolism and aims to provide better insight in the incidence and time course of these metabolic adverse effects in tre...... hiện toàn bộ
A questionnaire-based study to comprehensively assess the status quo of rare disease patients and care-givers in China
Orphanet Journal of Rare Diseases - - 2021
Xuefeng Li, Meiling Liu, Junyan Lin, Bingzhe Li, Xiangyu Zhang, Shu Zhang, Zijuan Lu, Jianyong Zhang, Jincheng Zhou, Li Ou
Abstract Background There are over 16.8 million rare disease patients in China, representing a large community that should not be neglected. While the public lack the awareness of their existence and difficult status quo, for one reason that they exist as a rare and special group in our society, for...... hiện toàn bộ
Unmet needs for healthcare and social support services in patients with Huntington’s disease: a cross-sectional population-based study
Orphanet Journal of Rare Diseases - Tập 10 - Trang 1-10 - 2015
Marleen R. van Walsem, Emilie I. Howe, Kristin Iversen, Jan C. Frich, Nada Andelic
In order to plan and improve provision of comprehensive care in Huntington’s disease (HD), it is critical to understand the gaps in healthcare and social support services provided to HD patients. Research has described utilization of healthcare services in HD in Europe, however, studies systematically examining needs for healthcare services and social support are lacking. This study aims to identi...... hiện toàn bộ
Essential thrombocythemia
Orphanet Journal of Rare Diseases - Tập 2 - Trang 1-17 - 2007
Jean B Brière
Essential thrombocythemia (ET) is an acquired myeloproliferative disorder (MPD) characterized by a sustained elevation of platelet number with a tendency for thrombosis and hemorrhage. The prevalence in the general population is approximately 30/100,000. The median age at diagnosis is 65 to 70 years, but the disease may occur at any age. The female to male ratio is about 2:1. The clinical picture ...... hiện toàn bộ
Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia
Orphanet Journal of Rare Diseases - Tập 11 - Trang 1-2 - 2016
Alexandre J. Vivanti, Anne-Gael Cordier, Geneviève Baujat, Alexandra Benachi
Pregnancies of women displaying achondroplasia are at high risk of adverse events. Early sonographic assessment of affected women can indicate an unusually long cervical length. It is the consequence of pathological anatomy of the pelvis. Thus, there is a foreseeable dystocia owing to cephalopelvic disproportion. Furthermore, this situation could also complicate cervical ripening prior to fetal ex...... hiện toàn bộ
Metabolomic profiling of Wilson disease, an inherited disorder of copper metabolism, and diseases with similar symptoms but normal copper metabolism
Orphanet Journal of Rare Diseases - Tập 18 - Trang 1-10 - 2023
Yijie Qiu, Mingchuan Su, Xina Xiao, Dingzi Zhou, Linshen Xie
Wilson’s disease (WD) is a hereditary disorder that results in the accumulation of copper. The pathogenic mechanism is not well understood, and diagnosing the disease can be challenging, as it shares similarities with more prevalent conditions. To explore the metabolomic features of WD and differentiate it from other diseases related to copper metabolism, we conducted targeted and untargeted metab...... hiện toàn bộ
Analysis of voice quality in patients with late-onset Pompe disease
Orphanet Journal of Rare Diseases - Tập 11 - Trang 1-9 - 2016
Krzysztof Szklanny, Ryszard Gubrynowicz, Katarzyna Iwanicka-Pronicka, Anna Tylki-Szymańska
Pompe disease is a progressive metabolic myopathy. Disease progression is characterized, among other features, by progressive dysfunction of the voice apparatus. The aim of this study was to employ electroglottographic, acoustic and nasalance measurement methods on patients with late-onset Pompe disease in order to provide detailed information on the effect of the disease on voice quality. Voice q...... hiện toàn bộ
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