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Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers
Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers
The purpose of this study was to describe the frequency and risk factors for orthopedic surgery in patients with achondrop...
Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States
Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States
X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, often r...
Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms
Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms
Preimplantation genetic testing (PGT) for monogenic disorders (PGT-M) for germline mosaicism was previously highly depende...
Barriers and facilitating factors of care coordination for children with spinal muscular atrophy type I and II from the caregivers' perspective: an interview study
Barriers and facilitating factors of care coordination for children with spinal muscular atrophy type I and II from the caregivers' perspective: an interview study
Children with medical complexity (CMC) require long-term care accompanied by different health- and social care professiona...
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child
Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in lif...
The challenges of classical galactosemia: HRQoL in pediatric and adult patients
The challenges of classical galactosemia: HRQoL in pediatric and adult patients
Classical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cogniti...
The epidemiology, clinical presentation and treatment outcomes in CNS actinomycosis: a systematic review of reported cases
The epidemiology, clinical presentation and treatment outcomes in CNS actinomycosis: a systematic review of reported cases
CNS actinomycosis is a rare chronic suppurative infection with non-specific clinical features. Diagnosis is difficult due ...
Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting
Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting
Mitochondrial diseases present as multi-system disorders requiring a comprehensive multidisciplinary approach. The data on...
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
Phenylketonuria (PKU) is an autosomal recessive congenital metabolic disorder caused by PAH variants. Previously, approxim...
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita
X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hy...
The Metreleptin Effectiveness and Safety Registry (MEASuRE): concept, design and challenges
The Metreleptin Effectiveness and Safety Registry (MEASuRE): concept, design and challenges
Metreleptin, a recombinant analog of human leptin, is an approved therapy, adjunct to diet, to treat the metabolic complic...
Hypertension, antihypertensive drugs, and age at onset of Huntington’s disease
Hypertension, antihypertensive drugs, and age at onset of Huntington’s disease
Associations between blood pressure (BP) with age at onset of Huntington’s disease (HD) have reported inconsistent f...
Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis
Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis
Osteogenesis imperfecta (OI) is a group of rare inheritable disorders of connective tissue. The cardinal manifestations of...
Effective long-term sirolimus treatment in hypoxemia mainly due to intrapulmonary right-to-left shunt in a patient with multiple vascular anomalies
Effective long-term sirolimus treatment in hypoxemia mainly due to intrapulmonary right-to-left shunt in a patient with multiple vascular anomalies
Pulmonary arteriovenous malformations (PAVMs), particularly where feeding artery/arteries to PAVMs ≥ 3&a...
Medical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centers
Medical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centers
Wilson disease (WD) is a rare, hereditary disorder of copper metabolism. Due to its variable symptoms and manifestations, ...
Oral antibiotic prophylaxis for infection in patients with vascular anomalies receiving sirolimus treatment: a multicenter retrospective study
Oral antibiotic prophylaxis for infection in patients with vascular anomalies receiving sirolimus treatment: a multicenter retrospective study
Patients with vascular anomalies (VAs) who receive oral sirolimus may be at high risk of infectious complications. Antibio...
Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients’ experiences and perceptions
Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients’ experiences and perceptions
The purpose of this study was to explore the literature on fatigue in patients with syndromic heritable thoracic aortic di...
The experience of living with Niemann–Pick type C: a patient and caregiver perspective
The experience of living with Niemann–Pick type C: a patient and caregiver perspective
Niemann–Pick disease type C (NPC) is a rare inherited lysosomal storage disease typified by accumulation of choleste...
Trend of clinical trials of new drugs for rare diseases in China in recent 10 years
Trend of clinical trials of new drugs for rare diseases in China in recent 10 years
Rare disease is a general term for a disease that affects a small number of people but recognized as a global public healt...
IMPOWER: a national patient-generated registry for intestinal malrotation exploring diagnosis, treatment, and surgical outcomes
IMPOWER: a national patient-generated registry for intestinal malrotation exploring diagnosis, treatment, and surgical outcomes
Intestinal malrotation is a rare congenital condition with potentially devastating consequences due to potential volvulus ...
Exons 1–3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome
Exons 1–3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome
The pathogenic variants responsible for Birt-Hogg-Dubé syndrome (BHDS) in folliculin (FLCN) gene mostly consist of po...
A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review
A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review
Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease, whose clinical phenotype was exp...
The value of 18F-FDG PET/CT in the systemic evaluation of patients with Rosai–Dorfman disease: a retrospective study and literature review
The value of 18F-FDG PET/CT in the systemic evaluation of patients with Rosai–Dorfman disease: a retrospective study and literature review
Rosai–Dorfman disease (RDD) is a rare form of non-Langerhans cell histiocytic disease. The aim of this study was to ...
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study
Pompe disease is a lysosomal storage disease treated with life-long enzyme replacement therapy (ERT). Home-based ERT has b...
Objective measurement of oral function in adults with spinal muscular atrophy
Objective measurement of oral function in adults with spinal muscular atrophy
Impairment of bulbar function in adult individuals with spinal muscular atrophy (SMA) usually is not assessed by establish...
A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance
A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance
Patient registries serve to overcome the research limitations inherent in the study of rare diseases, where patient number...
Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia
Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia
Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by changes in several organs and systems. Advances in c...
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary ...
French guidelines for the etiological workup of eosinophilia and the management of hypereosinophilic syndromes
French guidelines for the etiological workup of eosinophilia and the management of hypereosinophilic syndromes
Eosinophilic-related clinical manifestations are protean and the underlying conditions underpinning eosinophilia are highl...
Esophageal papillomatosis: an exceedingly rare disease
Esophageal papillomatosis: an exceedingly rare disease
If esophageal papilloma (EP) is a rare condition, esophageal papillomatosis (EPS) is a distinct rarity. To date, only 53 w...
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