Articles
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Citation: Orphanet Journal of Rare Diseases 2024 19:139
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The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology
Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still unclear what cell types are initially involved and what their role...
Citation: Orphanet Journal of Rare Diseases 2024 19:138 -
Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit
Lymphangioleiomyomatosis (LAM) is common in tuberous sclerosis complex (TSC) yet under recognised with management mostly based upon evidence obtained from patients with sporadic LAM. We performed a prospective...
Citation: Orphanet Journal of Rare Diseases 2024 19:137 -
Sonographic characteristics of diffuse sclerosing variant of papillary thyroid carcinoma with histopathological correlation: a preliminary study
Diffuse sclerosing variant of papillary thyroid carcinoma (DSVPTC) is a rare but high invasive subtype of papillary thyroid carcinoma, which mandates an aggressive clinical strategy. Few studies have focused o...
Citation: Orphanet Journal of Rare Diseases 2024 19:136 -
Moderate- to vigorous-intensity physical activities for hemophilia A patients during low-dose pharmacokinetic-guided extended half-life factor VIII prophylaxis
Low-dose pharmacokinetic (PK)-guided extended half-life (EHL) factor VIII (FVIII) prophylaxis can reduce the bleeding risk in hemophilia A (HA) patients. An increase in physical activities for promoting muscul...
Citation: Orphanet Journal of Rare Diseases 2024 19:135 -
Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life.
Citation: Orphanet Journal of Rare Diseases 2024 19:134 -
Intraoperative mechanical ventilation and incidence of pneumothorax in lymphangioleiomyomatosis
Patients with lymphangioleiomyomatosis (LAM) are considered high risk for most surgeries and require specific anesthetic considerations mainly because of the common spontaneous pneumothorax (PTX). To explore w...
Citation: Orphanet Journal of Rare Diseases 2024 19:133 -
Clinicopathological features and surgical procedures of adnexal masses with abdominal pain in pediatric and adolescent patients
This study investigated the clinicopathological features and surgical procedures of adnexal masses with abdominal pain in pediatric and adolescent patients. Our objective was to better define the clinical pres...
Citation: Orphanet Journal of Rare Diseases 2024 19:132 -
Correction to: Analysis of the first ten years of FDA’s rare pediatric disease priority review voucher program: designations, diseases, and drug development
Citation: Orphanet Journal of Rare Diseases 2024 19:131 -
Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools
Alpha 1 Antitrypsin Deficiency (AATD) is a rare, inherited lung disease which shares features with Chronic Obstructive Pulmonary Disease (COPD) but has a greater burden of proteinase related tissue damage. The...
Citation: Orphanet Journal of Rare Diseases 2024 19:130 -
Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, enabling the provision of early intervention and support to children and families. Despite...
Citation: Orphanet Journal of Rare Diseases 2024 19:129 -
The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers
Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder associated with a variety of symptoms, that affect individuals’ quality of life (QoL) and can be associated with increased healthcar...
Citation: Orphanet Journal of Rare Diseases 2024 19:128 -
Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
Adrenoleukodystrophy (ALD) is a multifaceted, X-linked, neurodegenerative disorder that comprises several clinical phenotypes. ALD affects patients through a variety of physical, emotional, social, and other d...
Citation: Orphanet Journal of Rare Diseases 2024 19:127 -
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia
Idiopathic infantile hypercalcemia (IIH) is a rare disorder of PTH-independent hypercalcemia. CYP24A1 and SLC34A1 gene mutations cause two forms of hereditary IIH. In this study, the clinical manifestations and m...
Citation: Orphanet Journal of Rare Diseases 2024 19:126 -
The parent and family impact of CLN3 disease: an observational survey-based study
CLN3 disease (also known as CLN3 Batten disease or Juvenile Neuronal Ceroid Lipofuscinosis) is a rare pediatric neurodegenerative disorder caused by biallelic mutations in CLN3. While extensive efforts have been ...
Citation: Orphanet Journal of Rare Diseases 2024 19:125 -
Substance use disorder of equimolar oxygen-nitrous oxide mixture in French sickle-cell patients: results of the PHEDRE study
In many countries, nitrous oxide is used in a gas mixture (EMONO) for short-term analgesia. Cases of addiction, with significant misuse, have been reported in hospitalized patients. Patients suffering from sic...
Citation: Orphanet Journal of Rare Diseases 2024 19:124 -
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies
Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported in dystrophinopathies. Most DMD missense variants are of uncertain significance and their pathogenicity interpretation remains complic...
Citation: Orphanet Journal of Rare Diseases 2024 19:123 -
Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region
The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility. The complex nature of this unique patie...
Citation: Orphanet Journal of Rare Diseases 2024 19:122 -
De novo variants of IRF2BPL result in developmental epileptic disorder
Pathogenic variants of the IRF2BPL gene have been reported to cause neurodevelopmental disorders; however, studies focused on IRF2BPL in zebrafish are limited.
Citation: Orphanet Journal of Rare Diseases 2024 19:121 -
Lymphatic drainage of sinonasal malignancies and the role of sentinel node biopsies
Locoregional recurrence is a critical factor in the prognosis of sinonasal malignancies. Due to the rarity of these tumours, as well as the heterogeneity of histologies and anatomical subsites, there is little...
Citation: Orphanet Journal of Rare Diseases 2024 19:120 -
The impact of amplification on quality of life in women with Turner syndrome
Individuals with Turner syndrome (TS, ORPHA 881) experience barriers in communication throughout life as they navigate both early conductive, and progressive sensorineural hearing loss amid other healthcare ne...
Citation: Orphanet Journal of Rare Diseases 2024 19:119 -
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa
Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complicatio...
Citation: Orphanet Journal of Rare Diseases 2024 19:118 -
A systematic review of real-world evidence (RWE) supportive of new drug and biologic license application approvals in rare diseases
Real-world evidence (RWE) generated using real-world data (RWD) presents the potential to contextualize and/or supplement traditional clinical trials for regulatory approval of rare diseases (RDs). This system...
Citation: Orphanet Journal of Rare Diseases 2024 19:117 -
Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta
Very little is known about the characteristics of echocardiographic abnormalities and joint hypermobility in Chinese patients with osteogenesis imperfecta (OI). The aim of our study was to investigate the char...
Citation: Orphanet Journal of Rare Diseases 2024 19:116 -
Pilot study of the effectiveness of a telehealth group for improving peer relationships for adolescents with neurofibromatosis type 1
Interventions for social difficulties have not been investigated in the neurofibromatosis type 1 (NF1) population despite observations of elevated rates of social difficulties. In this pilot study, the effecti...
Citation: Orphanet Journal of Rare Diseases 2024 19:115 -
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case
In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to c...
Citation: Orphanet Journal of Rare Diseases 2024 19:114 -
COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholineste...
Citation: Orphanet Journal of Rare Diseases 2024 19:113 -
Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry
Many different clinical specialists provide care to patients with Turner syndrome (TS), who have highly variable clinical manifestations. Therefore, a national TS registry is essential to inform a cohesive app...
Citation: Orphanet Journal of Rare Diseases 2024 19:112 -
Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome
Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the syndrome. To date, literature on genotype–phenotype associat...
Citation: Orphanet Journal of Rare Diseases 2024 19:111 -
Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II
Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II) have a severe, neuronopathic phenotype, characterized by somatic, cognitive, and behavioral issues. Current standard of care for the ...
Citation: Orphanet Journal of Rare Diseases 2024 19:110 -
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry
Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigu...
Citation: Orphanet Journal of Rare Diseases 2024 19:109 -
The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study
Osteogenesis imperfecta (OI) affects dental and craniofacial development; therefore, it can influence oral health-related quality of life (OHRQoL). The objective of this study was to explore the influence of t...
Citation: Orphanet Journal of Rare Diseases 2024 19:108 -
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sl...
Citation: Orphanet Journal of Rare Diseases 2024 19:107 -
Patients’ and physicians’ awareness of clinical symptoms and disease severity in tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to...
Citation: Orphanet Journal of Rare Diseases 2024 19:106 -
Adherence to medical treatment for Wilson’s disease in children and adolescents: a cohort study from Turkey
This study aimed to assess medication adherence and demographic, clinical, and psychopathological parameters such as quality of life, depression, and anxiety levels that can affect pediatrics with Wilson’s Dis...
Citation: Orphanet Journal of Rare Diseases 2024 19:105 -
Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-bra...
Citation: Orphanet Journal of Rare Diseases 2024 19:104 -
Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1
As the most common subtype of adult muscular dystrophy worldwide, large cohort reports on myotonic dystrophy type I (DM1) in China are still lacking. This study aims to analyze the genetic and clinical charact...
Citation: Orphanet Journal of Rare Diseases 2024 19:103 -
Crigler-Najjar syndrome: looking to the future does not make us forget the present
Recently, the safety and efficacy of gene therapy were evaluated in patients with Crigler-Najjar syndrome (CNS). Although it is a promising curative option for CNS, many doubts still persist about its long-ter...
Citation: Orphanet Journal of Rare Diseases 2024 19:102 -
Clinical and genetic studies for a cohort of patients with congenital stationary night blindness
Congenital stationary night blindness (CSNB) is an inherited retinal disorder. Most of patients have myopia. This study aims to describe the clinical and genetic characteristics of fifty-nine patients with CSN...
Citation: Orphanet Journal of Rare Diseases 2024 19:101 -
Hemodynamic changes and perinatal outcome associated with umbilical artery thrombosis: a retrospective study
Poor fetal and perinatal outcomes in fetuses associated with umbilical artery thrombosis (UAT), such as severe intrauterine growth restriction (IUGR) and intrauterine asphyxia have been reported by some case s...
Citation: Orphanet Journal of Rare Diseases 2024 19:100 -
The health-care utilization and economic burden in patients with genetic skeletal disorders
Most genetic skeletal disorders (GSD) were complex, disabling and life-threatening without effective diagnostic and treatment methods. However, its impacts on health system have not been well studied. The stud...
Citation: Orphanet Journal of Rare Diseases 2024 19:99 -
Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS)
Patients and family caregivers living with Congenital Disorders of Glycosylation (CDG) experience a heavy burden, which can impact their resiliency and quality of life. The study’s purpose was to measure the r...
Citation: Orphanet Journal of Rare Diseases 2024 19:98 -
Increased prevalence of peripheral vestibular disorder among patients with Fabry disease
Although peripheral vestibular disorder is a non-fatal complication of Fabry disease, fatalities have been reported in some case reports and case series. To date, no studies have examined the relative risk of ...
Citation: Orphanet Journal of Rare Diseases 2024 19:97 -
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations
The conduct of rare disease clinical trials is still hampered by methodological problems. The number of patients suffering from a rare condition is variable, but may be very small and unfortunately statistical...
Citation: Orphanet Journal of Rare Diseases 2024 19:96 -
Pragmatic skills in people with Williams syndrome: the perception of families
One of the most challenging linguistic areas in people with Williams Syndrome throughout their evolutionary stage is the development of pragmatic skills. The research conducted so far highlights specific probl...
Citation: Orphanet Journal of Rare Diseases 2024 19:95 -
Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study
Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders, characterized by varying degrees of skeletal fragility. Patients experience a range of comorbidities, such as obesity, card...
Citation: Orphanet Journal of Rare Diseases 2024 19:94 -
Cost-of-illness studies of inherited retinal diseases: a systematic review
While health care and societal costs are routinely modelled for most diseases, there is a paucity of comprehensive data and cost-of-illness (COI) studies for inherited retinal diseases (IRDs). This lack of dat...
Citation: Orphanet Journal of Rare Diseases 2024 19:93 -
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality
Congenital disorders of the mitochondrial respiratory chain are a heterogeneous group of inborn errors of metabolism. Among them, NADH:ubiquinone oxidoreductase (complex I, CI) deficiency is the most common. B...
Citation: Orphanet Journal of Rare Diseases 2024 19:92 -
Trends in orphan medicinal products approvals in the European Union between 2010–2022
Over the last twenty years of orphan drug regulation in Europe, the regulatory framework has increased its complexity, with different regulatory paths and tools engineered to facilitate the innovation and acce...
Citation: Orphanet Journal of Rare Diseases 2024 19:91 -
Embracing the unknown: investigating medical communication around uncertainty and the implications on patient and family well-being
Rare diseases present immense challenges to physicians, patients, and the healthcare system at large due to a scarcity of research and knowledge in the field. This contributes to uncertainty surrounding rare d...
Citation: Orphanet Journal of Rare Diseases 2024 19:37
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- ISSN: 1750-1172 (electronic)