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About 79,580 results

Natural History and Development of Spondyloarthritis
https://clinicaltrials.gov/ct2/show/NCT01422694

Oct 14th, 2022 - The purpose of this protocol is to study the natural history of spondyloarthritis (SpA) in children and adults. Spondyloarthritis encompasses a spectrum of immune-mediated inflammatory diseases that exhibit overlapping features, but differ from other types of inflammatory arthritis in genetic predisposition, pathogenesis, and outcome. Ankylosing spondylitis (AS), the most common form of SpA, fr...

The risk of glaucoma associated with phacomatosis cesioflammea and phacomatosis cesiofl...
https://doi.org/10.1684/ejd.2022.4317
European Journal of Dermatology : EJD; Huang S, Yang Y et. al.

Dec 6th, 2022 - The ocular features of phacomatosis pigmentovascularis (PPV) have rarely been reported, and glaucoma is the leading cause of blindness in patients with this condition. To protect vision in these patients, it is important to identify glaucoma as early as possible. To systematically report the systemic and ocular manifestations of phacomatosis cesioflammea and phacomatosis cesioflammeo-marmorata,...

Long-term effects of eliglustat on skeletal manifestations in clinical trials of patien...
https://doi.org/10.1016/j.gim.2022.10.011
Genetics in Medicine : Official Journal of the American C... Cox TM, Charrow J et. al.

Dec 6th, 2022 - Most patients with Gaucher disease have progressive and often disabling skeletal manifestations. We examined the long-term effect of eliglustat treatment on bone outcomes in clinical trials in adults with Gaucher disease type 1. Data from 4 completed phase 2 and 3 trials were evaluated in treatment-naïve patients or patients switching to eliglustat from enzyme replacement therapy (ERT). Overall...

Interventions for superior vena cava syndrome.
https://doi.org/10.23736/S0021-9509.22.12448-1
The Journal of Cardiovascular Surgery; Sen I, Kalra M et. al.

Dec 6th, 2022 - Superior vena cava (SVC) syndrome refers to the clinical manifestations of cerebral venous hypertension secondary to obstruction of the SVC and/or the innominate veins. The most common cause of SVC syndrome is malignancy like small cell lung cancer and non-Hodgkin lymphoma, but there is an increasing trend of benign etiologies secondary to thrombosis due to central lines/ pacemakers or mediasti...

MicroRNAs-mediated regulation pathways in rheumatic diseases.
https://doi.org/10.1007/s10787-022-01097-6
Inflammopharmacology Assadiasl S, Rajabinejad M et. al.

Dec 6th, 2022 - Rheumatoid arthritis (RA) and ankylosing spondylitis (AS) are two common rheumatic disorders marked by persistent inflammatory joint disease. Patients with RA have osteodestructive symptoms, but those with AS have osteoproliferative manifestations. Ligaments, joints, tendons, bones, and muscles are all affected by rheumatic disorders. In recent years, many epigenetic factors contributing to the...

Bone health in RASopathies.
https://doi.org/10.1002/ajmg.c.32020
American Journal of Medical Genetics. Part C, Seminars In... Stevenson DA, Viscogliosi G et. al.

Dec 4th, 2022 - The RASopathies are a group of disorders due to pathogenic variants in genes involved in the Ras/MAPK pathway, many of which have overlapping clinical features (e.g., neurofibromatosis type 1, Costello syndrome, cardiofaciocutaneous syndrome and Noonan syndrome) including musculoskeletal manifestations. Osteopenia and osteoporosis are reported in many of the RASopathies suggesting a shared path...

Development of an instrument to predict proliferative histological class in lupus nephr...
https://doi.org/10.1177/09612033221143933
Lupus Silaide de Araújo Júnior A, Sato EI et. al.

Dec 4th, 2022 - To compare the correlations of histological class inferences based on clinical manifestations and laboratory tests between rheumatologists and nephrologists, to determine the associations of clinical and laboratory data with histological classes and to develop an instrument that can assist histological class identification in lupus nephritis (LN). Retrospective study based on medical records of...

The concomitant diagnosis of fibromyalgia and connective tissue disorders: A systematic...
https://doi.org/10.1016/j.semarthrit.2022.152127
Seminars in Arthritis and Rheumatism; Alsiri N, Alhadhoud M et. al.

Dec 4th, 2022 - Anecdotally, fibromyalgia syndrome (FMS) and connective tissue disorders (hypermobile Ehlers-Danlos Syndrome (hEDS), Hypermobility Spectrum disorders (HSD) and Generalized Joint Hypermobility (GJH)) manifest overlap in their diagnostic approach and symptomatic features. Understanding this overlap is important for accurate diagnosis and the success of subsequent management. This study therefore ...

A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case repo...
https://doi.org/10.1186/s12920-022-01399-2
BMC Medical Genomics; Li J, Wang X et. al.

Dec 4th, 2022 - The incidence of hereditary spherocytosis (HS) is approximately 1:2000 in the western population, while it is much lower in the Chinese population. It is difficult to make a definite diagnosis due to the variable genotypic features and the lack of well-documented evidence for HS patients. Gene sequence examination is helpful for clear diagnosis. We presented the case of a 29-year-old male HS pa...

The characteristics of patients with COVID-19-associated pediatric vasculitis: an inter...
https://doi.org/10.1002/art.42411
Arthritis & Rheumatology (Hoboken, N.J.); Batu ED, Sener S et. al.

Dec 3rd, 2022 - COVID-19 associated pediatric vasculitis other than Kawasaki disease (KD)-like vasculitis in multisystem inflammatory syndrome in children (MIS-C) is very rare. We aimed to analyze the characteristics, treatment and outcome in COVID-19-associated pediatric vasculitis (excluding KD-like vasculitis in MIS-C). The inclusion criteria were as follows: 1) <18 years at vasculitis onset; 2) evidence of...

Molecular dissection of somatic skeletal disease in Neurofibromatosis Type 1.
https://doi.org/10.1002/jbmr.4755
Journal of Bone and Mineral Research : the Official Journ... Paria N, Khalid A et. al.

Dec 3rd, 2022 - Neurofibromatosis Type 1 (NF1) is a tumor predisposition syndrome caused by heterozygous NF1 gene mutations. Patients with NF1 present with pleiotropic somatic secondary manifestations, including development of bone pseudarthrosis after fracture. Somatic NF1 gene mutations were reproducibly identified in patient-derived pseudarthrosis specimens, suggesting a local mosaic cell population includi...

Long term ophthalmic complications of distal arthrogryposis type 5D.
https://doi.org/10.1080/13816810.2022.2141791
Ophthalmic Genetics; Cohen D, Sloma R et. al.

Dec 3rd, 2022 - Distal Arthrogryposis type 5D (DA5D) is a rare genetic disease, expressed phenotypically by skeletal and ocular abnormalities. Two sisters, ages 42 and 46 years old, were ascertained, both diagnosed with arthrogryposis and unusual ophthalmic late expressions of the disease. They were examined and followed up by both ophthalmologists and medical geneticists. Molecular analysis was performed and ...

How does Tourette syndrome impact adolescents' daily living? A text mining study.
https://doi.org/10.1007/s00787-022-02116-1
European Child & Adolescent Psychiatry; Atkinson-Clement C, Duflot M et. al.

Dec 3rd, 2022 - Tourette syndrome is a neurodevelopmental disease in which clinical manifestations are essentially present during childhood and adolescence, corresponding to one of the critical development phases. However, its consequences on the daily lives of young patients have been insufficiently investigated. Here, we aimed to investigate this using a statistical text mining approach, allowing for the ana...

Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review.
https://doi.org/10.1016/j.ejmg.2022.104675
European Journal of Medical Genetics; Yu C, Lyn N et. al.

Dec 3rd, 2022 - Noonan syndrome is a common developmental disorder characterized by distinctive facial dysmorphism, short stature, congenital heart defects, pectus deformity, and developmental delay. It is related to the abnormal activation of genes involved in the RAS-MAPK signaling pathway, more than a dozen of which can be affected. However, mutations of the RRAS2 gene are rare, with only 6 different RRAS2 ...

Pulmonary involvement: A potential independent factor for quality of life in systemic l...
https://doi.org/10.1177/09612033221143934
Lupus Osman HM, Abdel-Nasser AM et. al.

Dec 3rd, 2022 - Systemic lupus erythematosus (SLE) is a chronic multi-systemic autoimmune disease. SLE patients may experience a wide range of physical, psychological, and social perception of well-being influenced by the patient illness that are not always fully captured by descriptions of the disease's physiological consequences alone. Nowadays, patients with SLE have a better survival than decades ago, neve...

An Update on the Future of Wilson Disease Management.
https://doi.org/10.4088/PCC.AN21065COM1C
The Primary Care Companion for CNS Disorders; Brown RS

Dec 3rd, 2022 - The recognition of Wilson disease (WD) has progressed over the last century from a neurologic disorder associated with liver disease to the understanding that WD is a rare autosomal recessive genetic disorder of copper metabolism. Due to WD's myriad manifestations, its rarity, and its broad range of symptoms, differential diagnosis may be challenging, leading to delays in treatment initiation. ...

Benign goiters requiring thyroidectomy as the signal for PTEN hamartoma tumor syndrome ...
https://doi.org/10.1002/ajmg.a.63070
American Journal of Medical Genetics. Part A; Wang X, Moore C et. al.

Dec 2nd, 2022 - PTEN hamartoma tumor syndrome (PHTS) is a rare genetic cancer and tumor predisposition syndrome. Due to the wide spectrum of clinical manifestations and variable age at onset, the pathways leading to a PHTS diagnosis are difficult and highly variable. Many patients were found to have PHTS after a cancer diagnosis, missing the opportunity of prevention or enhanced cancer screening. This retrospe...

Inhibition of integrated stress response protects against lipid-induced senescence in h...
https://doi.org/10.1093/neuonc/noac261
Neuro-oncology Wang C, Zhang H et. al.

Dec 2nd, 2022 - Adamantinomatous craniopharyngioma (ACP) is a benign tumor with malignant clinical manifestations. ACP adjacent to the hypothalamus often presents with more severe symptoms and higher incidence of hypothalamic dysfunction. However, the mechanism underlying hypothalamic dysfunction remains unclear. Immunostaining was performed to determine the nerve damage to the floor of the third ventricle (3V...

Osteoarticular manifestation of acute lymphoblastic leukemia in adults: a literature re...
https://doi.org/10.1007/s10067-022-06459-7
Clinical Rheumatology; Slouma M, Hannech E et. al.

Dec 2nd, 2022 - Osteoarticular manifestations such as arthritis and bone pain are scarce among adults with acute lymphoblastic leukemia (ALL). We present a systematic review of osteoarticular first clinical manifestation related to ALL in adults, and we report a case of an adult patient with a B-cell ALL revealed by refractory pygalgia and arthritis. A systematic review was performed according to the Preferred...

Central nervous system involvement in individuals with RASopathies.
https://doi.org/10.1002/ajmg.c.32023
American Journal of Medical Genetics. Part C, Seminars In... Weaver KN, Gripp KW

Dec 2nd, 2022 - Central nervous system (CNS) anomalies are common in individuals with RASopathies. While certain findings, including relative or absolute macrocephaly, are typical for most RASopathies, other findings are more common in certain conditions, with rare low-grade gliomas in Noonan syndrome (NS); Chiari 1 malformation and tethered cord in Costello syndrome (CS); and variable structural anomalies inc...