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Plasma metabolomics signatures of developmental dysplasia of the hip in Tibet plateau
Plasma metabolomics signatures of developmental dysplasia of the hip in Tibet plateau
Developmental dysplasia of the hip (DDH) is a common childhood health complaint, whose etiology is multifactorial. The inc...
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal disorder with progressive neurological manifestations, historical...
Cognitive potential of children and adolescents with CHARGE syndrome and deafblindness
Cognitive potential of children and adolescents with CHARGE syndrome and deafblindness
The present study aimed to test the hypothesis stating that the cognitive potential of individuals with deafblindness is e...
Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertension
Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertension
Increased arterial tortuosity has been associated with various cardiovascular complications. However, the extent and role ...
The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies
The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies
Factor XI (FXI) deficiency is an autosomal hemorrhagic disorder characterized by reduced plasma FXI levels. Multiple ances...
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration
Waardenburg syndrome (WS) is a rare genetic disorder mainly characterized by hearing loss and pigmentary abnormalities. Cu...
Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1
Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1
Infantile liver failure syndrome type 1 (ILFS1, OMIM #615,438), caused by leucyl-tRNA synthase 1 (LARS1, OMIM *151,350) de...
Neuroleptic malignant syndrome and serotonin syndrome: a comparative bibliometric analysis
Neuroleptic malignant syndrome and serotonin syndrome: a comparative bibliometric analysis
This study aimed to analyze and map scientific literature on Neuroleptic Malignant Syndrome (NMS) and Serotonin Syndrome (...
Whole genome sequencing of HER2-positive metastatic extramammary Paget’s disease: a case report
Whole genome sequencing of HER2-positive metastatic extramammary Paget’s disease: a case report
Extramammary Paget’s disease (EMPD) is a rare cancer that occurs within the epithelium of the skin, arising predomin...
The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults
The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults
The IMPACT survey aimed to elucidate the humanistic, clinical and economic burden of osteogenesis imperfecta (OI) on indiv...
Prevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method
Prevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method
Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral painless subacute visual loss. Pr...
Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy
Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy
Biallelic pathogenic variants of LARS1 cause infantile liver failure syndrome type 1 (ILFS1), which is characterized by ac...
Multi-omics analysis of a case of congenital microtia reveals aldob and oxidative stress associated with microtia etiology
Multi-omics analysis of a case of congenital microtia reveals aldob and oxidative stress associated with microtia etiology
Microtia is reported to be one of the most common congenital craniofacial malformations. Due to the complex etiology and t...
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases
Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from ...
Brain perfusion changes in beta-thalassemia
Brain perfusion changes in beta-thalassemia
Brain injury in hereditary hemoglobinopathies is commonly attributed to anemia-related relative hypoperfusion in terms of ...
Hereditary angioedema in Spain: medical care and patient journey
Hereditary angioedema in Spain: medical care and patient journey
Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1INH) is a genetic rare disease characterized by recurrent, tra...
Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases
Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases
Invasive cutaneous squamous cell carcinomas (cSCC) are a leading cause of death in recessive dystrophic epidermolysis bull...
Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene
Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene
Chronic enteropathy associated with SLCO2A1 gene is a rare intestinal disease caused by loss-of-function SLCO2A1 mutations...
New diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric approach
New diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric approach
Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism...
A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS)
A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS)
Activated phosphoinositide 3-kinase delta syndrome (APDS) is an ultra-rare primary immunodeficiency, with only 256 cases r...
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study
Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzy...
Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus
Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus
Repurposing anticancer drugs to vascular malformations has significantly improved patient outcomes. Complex Lymphatic Anom...
Ethanol embolization of arteriovenous malformations in the buttock: ten-year experiences in diagnoses and treatment options
Ethanol embolization of arteriovenous malformations in the buttock: ten-year experiences in diagnoses and treatment options
Clinically, arteriovenous malformations in the buttocks (bAVMs) are extremely rare. Our study aimed to evaluate the effica...