journal
https://read.qxmd.com/read/38615062/a-retrospective-study-of-morbidity-and-mortality-of-chronic-acid-sphingomyelinase-deficiency-in-germany
#1
MULTICENTER STUDY
Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo, Ruth Pulikottil-Jacob
BACKGROUND: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, potentially fatal lysosomal storage disease that exhibits a broad spectrum of clinical phenotypes. There is a need to expand the knowledge of disease mortality and morbidity in Germany because of limited information on survival analysis in patients with chronic ASMD (type B or type A/B). METHODS: This observational, multicentre, retrospective cohort study was conducted using medical records of patients with the first symptom onset/diagnosis of ASMD type B or type A/B between 1st January 1990 and 31st July 2021 from four German medical centres...
April 13, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38610052/clinical-and-genetic-study-of-abcb4-gene-related-cholestatic-liver-disease-in-china-children-and-adults
#2
JOURNAL ARTICLE
Lili Cao, Xiuxin Ling, Jianguo Yan, Danni Feng, Yi Dong, Zhiqiang Xu, Fuchuan Wang, Shishu Zhu, Yinjie Gao, Zhenhua Cao, Min Zhang
BACKGROUND: ABCB4 gene-related cholestatic liver diseases have a wide spectrum of clinical and genetic variations. The correlation between genotype and clinical phenotype still unclear. This study retrospectively analyzed the clinical and pathological characteristics of 23 patients with ABCB4 gene-related cholestatic liver diseases. Next-generation sequencing was used to identify the genetic causes. RESULTS: The 23 included patients (15 children and 8 adults) were diagnosed as progressive familial intrahepatic cholestasis type 3 (PFIC3), drug-induced liver injury (DILI), cirrhosis cholestasis, cirrhosis, and mild liver fibrosis...
April 12, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38610036/dual-rare-genetic-diseases-in-five-pediatric-patients-insights-from-next-generation-diagnostic-methods
#3
JOURNAL ARTICLE
Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Yang
BACKGROUND: Clinicians traditionally aim to identify a singular explanation for the clinical presentation of a patient; however, in some cases, the diagnosis may remain elusive or fail to comprehensively explain the clinical findings. In recent years, advancements in next-generation sequencing, including whole-exome sequencing, have led to the incidental identification of dual diagnoses in patients. Herein we present the cases of five pediatric patients diagnosed with dual rare genetic diseases...
April 12, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38610004/clinical-investigator-perspectives-on-patient-outcomes-in-children-with-neuronopathic-mucopolysaccharidosis-ii-during-intrathecal-idursulfase-it-treatment
#4
JOURNAL ARTICLE
Karen S Yee, David Alexanderian, Susan Martin, Bimpe Olayinka-Amao, David A H Whiteman
BACKGROUND: Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by iduronate-2-sulfatase gene (IDS) deficiency and downstream glycosaminoglycan accumulation. Two-thirds of patients present with neuronopathic disease and evaluating cognitive function in these patients is challenging owing to limitations of currently available tests. During the clinical development of intrathecal idursulfase (idursulfase-IT), regulatory authorities requested qualitative data to further understand the neurocognitive changes observed by the investigators through the clinical trials...
April 12, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38609989/genetic-analysis-of-37-cases-with-primary-periodic-paralysis-in-chinese-patients
#5
JOURNAL ARTICLE
Xuechao Zhao, Haofeng Ning, Lina Liu, Chaofeng Zhu, Yinghui Zhang, Guifang Sun, Huanan Ren, Xiangdong Kong
BACKGROUND: Primary periodic paralysis (PPP) is an inherited disorders of ion channel dysfunction characterized by recurrent episodes of flaccid muscle weakness, which can classified as hypokalemic (HypoPP), normokalemic (NormoPP), or hyperkalemic (HyperPP) according to the potassium level during the paralytic attacks. However, PPP is charactered by remarkable clinical and genetic heterogeneity, and the diagnosis of suspected patients is based on the characteristic clinical presentation then confirmed by genetic testing...
April 12, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38605407/clinical-spectrum-over-12-year-follow-up-and-experience-of-sglt2-inhibitors-treatment-on-patients-with-glycogen-storage-disease-type-ib-a-single-center-retrospective-study
#6
JOURNAL ARTICLE
Yong-Xian Shao, Cui-Li Liang, Ya-Ying Su, Yun-Ting Lin, Zhi-Kun Lu, Rui-Zhu Lin, Zhi-Zi Zhou, Chun-Hua Zeng, Chun-Yan Tao, Zong-Cai Liu, Wen Zhang, Li Liu
BACKGROUND: Glycogen storage disease type Ib (GSD Ib) is a rare disorder characterized by impaired glucose homeostasis caused by mutations in the SLC37A4 gene. It is a severe inherited metabolic disease associated with hypoglycemia, hyperlipidemia, lactic acidosis, hepatomegaly, and neutropenia. Traditional treatment consists of feeding raw cornstarch which can help to adjust energy metabolism but has no positive effect on neutropenia, which is fatal for these patients. Recently, the pathophysiologic mechanism of the neutrophil dysfunction and neutropenia in GSD Ib has been found, and the treatment with the SGLT2 inhibitor empaglifozin is now well established...
April 11, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38605392/minimal-clinically-important-differences-in-six-minute-walking-distance-in-late-onset-pompe-disease
#7
JOURNAL ARTICLE
Kristl G Claeys, Hani Kushlaf, Syed Raza, Noemi Hummel, Simon Shohet, Ian Keyzor, Agnieszka Kopiec, Ryan Graham, Brian Fox, Benedikt Schoser
BACKGROUND: The minimal clinically important difference (MCID) is the smallest change in outcome that physicians or patients would consider meaningful and is relevant when evaluating disease progression or the efficacy of interventions. Studies of patients with late-onset Pompe disease (LOPD) have used the 6-min walk distance (6MWD) as an endpoint to assess motor function. However, an MCID for 6MWD (% predicted and meters) has yet to be established in LOPD. The objective of the study was to derive 6MWD MCID (% predicted and meters) with different analysis methods and for subgroups of different disease severity for LOPD...
April 11, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38605390/patient-reported-experience-with-fabry-disease-and-its-management-in-the-real-world-setting-results-from-a-double-blind-cross-sectional-survey-of-280-respondents
#8
JOURNAL ARTICLE
Lisa Berry, Jerry Walter, Jack Johnson, Julia Alton, Janet Powers, Xavier Llòria, Irene Koulinska, Meghan McGee, Dawn Laney
BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a heterogeneous clinical presentation. Patients with FD may exhibit early signs/symptoms including neuropathic pain, gastrointestinal complaints, and dermatologic manifestations. FD may ultimately progress to renal, neurologic, and cardiac dysfunction. Current treatments for FD have significantly improved the management and outcomes for patients with FD, but important clinical and convenience limitations still exist...
April 11, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38605384/diagnostic-delay-of-sarcoidosis-an-integrated-systematic-review
#9
REVIEW
Tergel Namsrai, Christine Phillips, Anne Parkinson, Dianne Gregory, Elaine Kelly, Matthew Cook, Jane Desborough
BACKGROUND: Sarcoidosis is a chronic inflammatory granulomatous disease of unknown cause. Delays in diagnosis can result in disease progression and poorer outcomes for patients. Our aim was to review the current literature to determine the overall diagnostic delay of sarcoidosis, factors associated with diagnostic delay, and the experiences of people with sarcoidosis of diagnostic delay. METHODS: Three databases (PubMed/Medline, Scopus, and ProQuest) and grey literature sources were searched...
April 11, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38594754/the-socioeconomic-epidemiology-of-inherited-retinal-diseases-in-portugal
#10
JOURNAL ARTICLE
Ana Marta, João Pedro Marques, Cristina Santos, Luísa Coutinho-Santos, Sara Vaz-Pereira, José Costa, Pedro Arede, Raquel Félix, Sara Geada, Nuno Gouveia, Rui Silva, Margarida Baptista, Miguel Lume, Ricardo Parreira, Célia Azevedo Soares, Maria João Menéres, Carolina Lemos, João Melo Beirão
BACKGROUND: Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. Knowing the target population and its resources is essential to better plan support measures. The aim of this study was to evaluate the socioeconomic characteristics of regions in Portugal where IRD patients reside to inform the planning of vision aid and rehabilitation intervention measures. RESULTS: This study included 1082 patients from 973 families, aged 3 to 92 years, with a mean age of 44...
April 9, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38594752/genotype-phenotype-associations-in-microtia-a-systematic-review
#11
JOURNAL ARTICLE
Siti Isya Wahdini, Fina Idamatussilmi, Rachmaniar Pramanasari, Almas Nur Prawoto, Citrawati Dyah Kencono Wungu, Indri Lakhsmi Putri, Gunadi
BACKGROUND: Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This systematic review aimed to determine the genes involved and the abnormalities in microtia patients' head and neck regions. METHODS: We used seven search engines to search all known literature on the genetic and phenotypic variables associated with the development or outcome of microtia...
April 9, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38589924/the-behavioral-phenotype-of-children-and-adolescents-with-attenuated-non-ketotic-hyperglycinemia-intermediate-to-good-subtype
#12
JOURNAL ARTICLE
Liesbet D F M Van Hirtum, Tine Van Damme, Johan L K Van Hove, Jean G Steyaert
AIM: We aim to describe the behavioral phenotype of children and adolescents with the good to intermediate attenuated form of non-ketotic hyperglycinemia (NKH) and to explore associations between the behavioral phenotype and age, sex, plasma glycine levels and drug treatment. METHOD: Parents of children with attenuated NKH completed questionnaires assessing maladaptive behavior, adaptive behavior, social communication, speech/language development and motor development in addition to demographic and medical questions...
April 8, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38584252/molecular-and-phenotypic-characteristics-of-bardet-biedl-syndrome-in-chinese-patients
#13
JOURNAL ARTICLE
Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-En Yao, Tingting Yu, Guoying Chang, Xiumin Wang
BACKGROUND: Bardet-Biedl syndrome (BBS) is a type of non-motile ciliopathy. To date, 26 genes have been reported to be associated with BBS. However, BBS is genetically heterogeneous, with significant clinical overlap with other ciliopathies, which complicates diagnosis. Disability and mortality rates are high in BBS patients; therefore, it is urgent to improve our understanding of BBS. Thus, our study aimed to describe the genotypic and phenotypic spectra of BBS in China and to elucidate genotype-phenotype correlations...
April 8, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38582900/landscape-analysis-of-available-european-data-sources-amenable-for-machine-learning-and-recommendations-on-usability-for-rare-diseases-screening
#14
JOURNAL ARTICLE
Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Georgi Iskrov, Georgi Stefanov, Merja Vakevainen, Kaisa Elomaa, Yuen-Sum Man, Edith Gross, Jana Zschüntzsch, Richard Röttger, Rumen Stefanov
BACKGROUND: Patient registries and databases are essential tools for advancing clinical research in the area of rare diseases, as well as for enhancing patient care and healthcare planning. The primary aim of this study is a landscape analysis of available European data sources amenable to machine learning (ML) and their usability for Rare Diseases screening, in terms of findable, accessible, interoperable, reusable(FAIR), legal, and business considerations. Second, recommendations will be proposed to provide a better understanding of the health data ecosystem...
April 6, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38582886/identification-and-characterization-of-a-new-pathologic-mutation-in-a-large-leber-hereditary-optic-neuropathy-pedigree
#15
JOURNAL ARTICLE
Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro Del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
BACKGROUND: Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are different risk factors that modify the penetrance of these mutations. The remaining patients carry one of a set of very rare genetic variants and, it appears that, some of the risk factors that modify the penetrance of the classical pathologic mutations may also affect the phenotype of these other rare mutations...
April 6, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38580983/sleep-disturbance-in-angelman-syndrome-patients
#16
REVIEW
Song Qu, Junyi Wang, Xingying Guan, Cui Song, Yanyan Wang
Angelman syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression of the maternal ubiquitin protein ligase E3A gene (UBE3A). As one of the most challenging symptoms and important focuses of new treatment, sleep disturbance is reported to occur in 70-80% of patients with AS and has a serious impact on the lives of patients and their families. Although clinical studies and animal model studies have provided some clues, recent research into sleep disorders in the context of AS is still very limited...
April 5, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38576038/social-support-and-medication-adherence-among-adult-myasthenia-gravis-patients-in-china-the-mediating-role-of-mental-health-and-self-efficacy
#17
JOURNAL ARTICLE
Jiazhou Yu, Luyao Xie, Shanquan Chen, Zhilan Fang, Liling Zhu, Huanyu Zhang, Richard H Xu, Huan Yang, Dong Dong
BACKGROUND: Myasthenia gravis (MG), a rare chronic neuromuscular disorder, is characterized by progressive physical decline and requires long-term pharmacological treatment. Due to the decline of physical and social abilities, MG patients are in great need of social support, including tangible and emotional support. This study aims to examine the association between social support and medication adherence and the possible mediating effects of mental health and self-efficacy among MG patients...
April 4, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38575988/gba1-as-a-risk-gene-for-osteoporosis-in-the-specific-populations-and-its-role-in-the-development-of-gaucher-disease
#18
JOURNAL ARTICLE
Chung-Hsing Wang, Yu-Nan Huang, Wen-Ling Liao, Ai-Ru Hsieh, Wei-De Lin, Kai-Wen Liu, Wen-Li Lu, Chieh-Chen Huang, Yin-Hsiu Chien, Ni-Chung Lee, Pen-Hua Su, Fuu-Jen Tsai
BACKGROUND: Osteoporosis and its primary complication, fragility fractures, contribute to substantial global morbidity and mortality. Gaucher disease (GD) is caused by glucocerebrosidase (GBA1) deficiency, leading to skeletal complications. This study aimed to investigate the impact of the GBA1 gene on osteoporosis progression in GD patients and the specific populations. METHODS: We selected 8115 patients with osteoporosis (T-score ≤ - 2...
April 4, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38575986/abnormal-biochemical-indicators-of-neonatal-inherited-metabolic-disease-in-carriers
#19
JOURNAL ARTICLE
Fang Guo, Lingna Zhou, Feng Zhang, Bin Yu, Yuqi Yang, Zhiwei Liu
BACKGROUND: Traditional biochemical screening for neonatal inherited metabolic diseases has high false-positive rates and low positive predictive values, which are not conducive to early diagnosis and increase parents' anxiety. This study analysed the relationship between gene variant carriers and their biochemical indicators in traditional biochemical screening, aiming to find explanations for false positives in newborns. RESULTS: This retrospective study included 962 newborns...
April 4, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38561848/correction-to-a-double-blind-placebo-controlled-randomized-trial-of-pxt3003-for-the-treatment-of-charcot-marie-tooth-type-1a
#20
Shahram Attarian, Peter Young, Thomas H Brannagan, David Adams, Philip Van Damme, Florian P Thomas, Carlos Casanovas, Jafar Kafaie, Céline Tard, Maggie C Walter, Yann Péréon, David Walk, Amro Stino, Marianne de Visser, Camiel Verhamme, Anthony Amato, Gregory Carter, Laurent Magy, Jeffrey M Statland, Kevin Felice
No abstract text is available yet for this article.
April 1, 2024: Orphanet Journal of Rare Diseases
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