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1. Ultrasound-guided transbronchial biopsy in the diagnosis of fibrosing mediastinitis-associated pulmonary hypertension

Zhang, Yu | Song, Han-Xiang ... - 《Orphanet journal of rare diseases》 - 2025,20(1) - 共9页

摘要：BackgroundFibrosing mediastinitis is a rare | benign disease frequently complicated by pulmonary | hypertension. A definitive diagnosis for fibrosing | mediastinitis-associated pulmonary hypertension (FM-PH) and | its etiologies necessitates mediastinal biopsy and

关键词： Fibrosing mediastinitis | Pulmonary hypertension | Endobronchial ultrasound | Cryobiopsy | Needle aspiration | ENDOBRONCHIAL ULTRASOUND | ARTERIAL

2. A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?

Mohr, Isabelle | Lamade, Patrick ... - 《Orphanet journal of rare diseases》 - 2025,20(1) - 共11页

摘要：Background & AimTwenty-four-hour urinary | copper excretion (24 h-UCE) is the standard diagnostic | tool for dose adjustments in maintenance therapy in | Wilson disease (WD) patients. Guidelines lack data if | both variants of 24 h-UCE measurement (with or

关键词： Wilson disease | Urinary copper | Exchangeable copper | Monitoring | CLINICAL-PRACTICE | EXCRETION | THERAPY | DIAGNOSIS | PENICILLAMINE | MANAGEMENT...

Zucchi, Dina | Marinello, Diana ... - 《Orphanet journal of rare diseases》 - 2025,20(1) - 共7页

摘要：BackgroundRare and complex diseases can have a | significant impact on family life, and managing the | reproductive aspects of patients of childbearing age with | rare diseases is often difficult and complex.A | European Reference Network (ERN) Transversal Working

关键词： Rare diseases | Pregnancy-related issues | Unmet needs

4. Biological pathways leading to septo-optic dysplasia: a review

Pasca, Ludovica | Politano, Davide ... - 《Orphanet journal of rare diseases》 - 2025,20(1) - 共13页

摘要：BackgroundThe precise etiology of septo-optic | dysplasia (SOD) remains elusive, to date a complex | interaction between genetic predisposition and prenatal | exposure to environmental factors is believed to come | into play. Being SOD such a heterogeneous condition

关键词： Septo-optic dysplasia | SOD plus | Genetic pathways | Rare disease | CORPUS-CALLOSUM AGENESIS | DIGITAL ANOMALIES | NERVE HYPOPLASIA | MATERNAL AGE | MUTATIONS | PLUS...

5. The m.3290T > C variant might be a protective factor against the pathogenic m.3243 A > G variant: a case study

Zhang, Ning | Zhang, Zhikang ... - 《Orphanet journal of rare diseases》 - 2025,20(1) - 共5页

摘要：The mitochondrial m.3243 A > G variant is a | prevalent mitochondrial disease mutation that causes | multisystem maternal inheritance disorders. While clinical | severity typically correlates with mutation load, symptom | manifestation may be influenced by other variants and

关键词： Mitochondrial DNA | Mitochondrial disease | m.3290T > C | m.3243A > G | MELAS | MULTISYSTEMIC NEURODEGENERATIVE DISORDER | SPINAL INSTRUMENTED FUSION | IDIOPATHIC SCOLIOSIS | MITOCHONDRIAL | MUTATION...

6. The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey

Mancuso, Michelangel... | Colitta, Alessandro ... - 《Orphanet journal of rare diseases》 - 2025,20(1) - 共10页

摘要：BackgroundNeuromuscular diseases (NMDs | ) comprise a range of genetic and acquired rare disorders | that affect motor neurons, peripheral nerves | , neuromuscular junctions and skeletal muscles, leading to | significant impairments such as muscle weakness and fatigue

关键词： Neuromuscular diseases | Symptoms | PROMs | QUALITY-OF-LIFE | OUTCOME MEASURES

7. Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project

Hernandez-Rodriguez,... | Martinez-Valle, Fern...... - 《Orphanet journal of rare diseases》 - 2025,20(1) - 共14页

摘要：BackgroundRare diseases (RDs) are a | heterogeneous group of complex and low-prevalence conditions | in which the time to establish a definitive | diagnosis is often too long. In addition, for most RDs | , few to no treatments are available and it is often

关键词： Rare diseases | Person living with a rare disease | Comprehensive care | Patient journey | Healthcare system | Focus group

8. How does overweight affect bone mineral density and oral health in adult hypophosphatasia?- A single center experience

Dudde, Florian | Fildebrandt, Dominik ... - 《Orphanet journal of rare diseases》 - 2025,20(1) - 共9页

摘要：Aim The aim of this study was to investigate | the influence of overweight (BMI >= 25 (kg/m(2))) on | the oral health status in patients with adult | hypophosphatasia (HPP). Materials and methods Throughout a | retrospective assessment both oral health status and bone

关键词： Adult | Hypophosphatasia | Oral health | BMI | ASSOCIATION | OBESITY | STANDARDS | DISEASE

9. Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T

Zhang, Chuan | Yan, Yousheng ... - 《Orphanet journal of rare diseases》 - 2025,20(1) - 共9页

摘要：Background The c.1199 + 502 A > T variant of | the phenylalanine hydroxylase (PAH) gene, which is | the most frequently reported deep intronic variant | involved in phenylketonuria (PKU), is mainly observed in | patients with classical or mild PKU. Prior to this study

关键词： Phenylketonuria | Humanized mice | Phenotypic | CRISPR/Cas9 | Deep intronic variant | PHENYLALANINE | PHENYLKETONURIA | MANAGEMENT | LANDSCAPE

10. Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand

Suwattanapreeda, Sir... | Hirunrassamee, Sanit...... - 《Orphanet journal of rare diseases》 - 2025,20(1) - 共10页

摘要：IntroductionIn Thailand, obtaining medicines | for rare diseases presents significant challenges | , with limited evidence highlighting these | issues.ObjectivesTo evaluate the accessibility of medicines and the | extent of health insurance coverage for treatments of

摘要：BackgroundFibrosing mediastinitis is a rare | benign disease frequently complicated by pulmonary | hypertension. A definitive diagnosis for fibrosing | mediastinitis-associated pulmonary hypertension (FM-PH) and | its etiologies necessitates mediastinal biopsy and

关键词： Fibrosing mediastinitis | Pulmonary hypertension | Endobronchial ultrasound | Cryobiopsy | Needle aspiration | ENDOBRONCHIAL ULTRASOUND | ARTERIAL

摘要：Background & AimTwenty-four-hour urinary | copper excretion (24 h-UCE) is the standard diagnostic | tool for dose adjustments in maintenance therapy in | Wilson disease (WD) patients. Guidelines lack data if | both variants of 24 h-UCE measurement (with or

关键词： Wilson disease | Urinary copper | Exchangeable copper | Monitoring | CLINICAL-PRACTICE | EXCRETION | THERAPY | DIAGNOSIS | PENICILLAMINE | MANAGEMENT...

摘要：BackgroundRare and complex diseases can have a | significant impact on family life, and managing the | reproductive aspects of patients of childbearing age with | rare diseases is often difficult and complex.A | European Reference Network (ERN) Transversal Working

关键词： Rare diseases | Pregnancy-related issues | Unmet needs

摘要：BackgroundThe precise etiology of septo-optic | dysplasia (SOD) remains elusive, to date a complex | interaction between genetic predisposition and prenatal | exposure to environmental factors is believed to come | into play. Being SOD such a heterogeneous condition

关键词： Septo-optic dysplasia | SOD plus | Genetic pathways | Rare disease | CORPUS-CALLOSUM AGENESIS | DIGITAL ANOMALIES | NERVE HYPOPLASIA | MATERNAL AGE | MUTATIONS | PLUS...

摘要：The mitochondrial m.3243 A > G variant is a | prevalent mitochondrial disease mutation that causes | multisystem maternal inheritance disorders. While clinical | severity typically correlates with mutation load, symptom | manifestation may be influenced by other variants and

关键词： Mitochondrial DNA | Mitochondrial disease | m.3290T > C | m.3243A > G | MELAS | MULTISYSTEMIC NEURODEGENERATIVE DISORDER | SPINAL INSTRUMENTED FUSION | IDIOPATHIC SCOLIOSIS | MITOCHONDRIAL | MUTATION...

摘要：BackgroundNeuromuscular diseases (NMDs | ) comprise a range of genetic and acquired rare disorders | that affect motor neurons, peripheral nerves | , neuromuscular junctions and skeletal muscles, leading to | significant impairments such as muscle weakness and fatigue

关键词： Neuromuscular diseases | Symptoms | PROMs | QUALITY-OF-LIFE | OUTCOME MEASURES

摘要：BackgroundRare diseases (RDs) are a | heterogeneous group of complex and low-prevalence conditions | in which the time to establish a definitive | diagnosis is often too long. In addition, for most RDs | , few to no treatments are available and it is often

关键词： Rare diseases | Person living with a rare disease | Comprehensive care | Patient journey | Healthcare system | Focus group

摘要：Aim The aim of this study was to investigate | the influence of overweight (BMI >= 25 (kg/m(2))) on | the oral health status in patients with adult | hypophosphatasia (HPP). Materials and methods Throughout a | retrospective assessment both oral health status and bone

关键词： Adult | Hypophosphatasia | Oral health | BMI | ASSOCIATION | OBESITY | STANDARDS | DISEASE

摘要：Background The c.1199 + 502 A > T variant of | the phenylalanine hydroxylase (PAH) gene, which is | the most frequently reported deep intronic variant | involved in phenylketonuria (PKU), is mainly observed in | patients with classical or mild PKU. Prior to this study

关键词： Phenylketonuria | Humanized mice | Phenotypic | CRISPR/Cas9 | Deep intronic variant | PHENYLALANINE | PHENYLKETONURIA | MANAGEMENT | LANDSCAPE

摘要：IntroductionIn Thailand, obtaining medicines | for rare diseases presents significant challenges | , with limited evidence highlighting these | issues.ObjectivesTo evaluate the accessibility of medicines and the | extent of health insurance coverage for treatments of

关键词： Rare diseases | Accessibility | Health insurance coverage | IRDiRC | The national essential medicines list

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