New Syndromes
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
Brain . 2023 Apr 19;146(4):1420-1435
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage Authors REPORT Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fe
Am J Hum Genet . 2023 Apr 6;110(4):681-690
Novel blended SNRPE -related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia
Am J Med Genet A . 2023 May;191(5):1425-1429
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt – Hogg – Dubé syndrome and familial lipomatosis
Hum Mol Genet . 2023 Mar 20;32(7):1223-1235
New Genes
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability
Brain . 2023 Apr 19;146(4):1496-1510
Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families
Brain . 2023 May 2;146(5):e27-e30
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects
Brain . 2023 Apr 19;146(4):1373-1387
Clinical Research
DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy
Neurology . 2023 Apr 11;100(15):e1540-e1554
Multicenter Study of Utility and Acceptability of Depression and Anxiety Screening in Adolescents and Young Adults With Childhood-Onset Systemic Lupus
Arthritis Care Res (Hoboken) . 2023 Apr;75(4):724-733
Lung function decline preceding chronic respiratory failure in spinal muscular atrophy : a national prospective cohort study
Orphanet J Rare Dis . 2023 Feb 23;18(1):40
Patient ‑ reported outcomes measures of X ‑ linked hypophosphataemia participants : findings from a prospective cohort study in the UK
Orphanet J Rare Dis . 2023 Feb 8;18(1):26
Lisocabtagene maraleucel as second-line therapy for large B-cell lymphoma : primary analysis of the phase 3 TRANSFORM study
Blood . 2023 Apr 6;141(14):1675-1684
A randomized , placebo-controlled phase 3 trial of the PI3K δ inhibitor leniolisib for activated PI3K δ syndrome
Blood . 2023 Mar 2;141(9):971-983
Baricitinib for systemic lupus erythematosus : a double- blind , randomised , placebo-controlled , phase 3 trial
Lancet . 2023 Mar 25;401(10381):1001-1010
Lancet . 2023 Mar 25;401(10381):1011-1019
Hyperfractionation compared with standard fractionation in intensity-modulated radiotherapy for patients with locally advanced recurrent nasopharyngeal carcinoma : a multicentre , randomised , open-label , phase 3 trial
Tandem autologous stem cell transplantation in elderly patients with myeloma : A multicenter retrospective analysis
Eur J Haematol . 2023 Apr;110(4):444-454
Efficacy and safety of calcium channel blockers in preventing cardiac siderosis in thalassemia patients : An updated meta-analysis with trial sequential analysis
Eur J Haematol . 2023 Apr;110(4):414-425
Association of Modified Systemic Lupus Erythematosus Responder Index Attainment With Long-Term Clinical Outcomes : A Five-Year Prospective Study
Arthritis Rheumatol . 2023 Mar;75(3):401-410
Hydroxychloroquine Use and Cardiovascular Events Among Patients With Systemic Lupus Erythematosus and Rheumatoid Arthritis
Arthritis Care Res (Hoboken) . 2023 Apr;75(4):743-748
The Effects of Daily Prednisone and Tocilizumab on Hemoglobin A 1c During the Treatment of Giant Cell Arteritis
Arthritis Rheumatol . 2023 Apr;75(4):586-594
Ultrasound ‑ guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis
Orphanet J Rare Dis . 2023 Feb 17;18(1):30
Therapeutic Approaches
Promoting regeneration while blocking cell death preserves motor neuron function in a model of ALS
Brain . 2023 May 2;146(5):2016-2028
Nonhuman primate genetic models for the study of rare diseases
Orphanet J Rare Dis . 2023 Jan 31;18(1):20
Alpha ‑ lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase ‑ associated neurodegeneration with residual PANK2 expression levels
Orphanet J Rare Dis . 2023 Apr 12;18(1):80
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia
Am J Hum Genet . 2023 Mar 2;110(3):531-547
Microglia activation in the presence of intact blood–brain barrier and disruption of hippocampal neurogenesis via IL-6 and IL-18 mediate early diffuse neuropsychiatric lupus
Ann Rheum Dis . 2023 May;82(5):646-657
Diagnostic Approaches
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
Eur J Hum Genet . 2023 May;31(5):521-525
An automatic facial landmarking for children with rare diseases
Am J Med Genet A . 2023 May;191(5):1210-1221
Neonatal screening
Non-invasive prenatal testing in Germany: a unique ethical and policy landscape
Eur J Hum Genet . 2023 May;31(5):562-567
Patient Management and Therapy
Assessment and prediction of glioblastoma therapy response: challenges and opportunities
Brain . 2023 Apr 19;146(4):1281-1298
Understanding the challenges , unmet needs , and expectations of mucopolysaccharidoses I , II and VI patients and their caregivers in France : a survey study
Orphanet J Rare Dis . 2022 Dec 23;17(1):448
Increasing incidence rate of breast cancer in cystic fibrosis - relationship between pathogenesis , oncogenesis and prediction of the treatment effect in the context of worse clinical outcome and prognosis of cystic fibrosis due to estrogens
Orphanet J Rare Dis . 2023 Mar 20;18(1):62
Recommendations
French national diagnosis and care protocol ( PNDS , protocole national de diagnostic et de soins ): cystic lymphatic malformations
Orphanet J Rare Dis . 2023 Jan 13;18(1):10
Esophageal and Esophagogastric Junction Cancers , Version 2 . 2023
J Natl Compr Canc Netw . 2023 Apr;21(4):393-422
Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa
Orphanet J Rare Dis . 2023 Feb 23;18(1):38
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1
Orphanet J Rare Dis . 2022 Dec 21;17(1):442
Epidemiology
Prevalence of Fabry disease- causing variants in the UK Biobank
J Med Genet . 2023 Apr;60(4):391-396
Trends in the prevalence , prenatal diagnosis , and outcomes of births with chromosomal abnormalities : a hospital ‑ based study in Zhejiang Province , China during 2014 – 2020
Orphanet J Rare Dis . 2022 Dec 22;17(1):446
Sources of variation in estimates of Duchenne and Becker muscular dystrophy prevalence in the United States
Orphanet J Rare Dis . 2023 Mar 22;18(1):65
Incidence of Syndromes Associated With Frontotemporal Lobar Degeneration in 9 European Countries
https://pubmed.ncbi.nlm.nih.gov/36716024/
Quality of Life
Systematic review of health related ‑ quality of life in adults with osteogenesis imperfecta
Orphanet J Rare Dis . 2023 Feb 22;18(1):36
Prevalence of depression and anxiety , and their relationship to social support among patients and family caregivers of rare bone diseases
Orphanet J Rare Dis . 2023 Jan 26;18(1):18
Patient Assessment Chronic Illness Care ( PACIC ) and its associations with quality of life among Swiss patients with systemic sclerosis : a mixed methods study
Orphanet J Rare Dis . 2023 Jan 9;18(1):7
Systematic review of health related ‑ quality of life in adults with osteogenesis imperfecta
Orphanet J Rare Dis . 2023 Feb 22;18(1):36
Other news
Summary of the edition of 25 May 2023
