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About 72,800 results

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

Aug 4th, 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...

Does expert opinion match the definition of Lupus Low Disease Activity State? prospecti...
https://doi.org/10.1093/rheumatology/keac462
Rheumatology (Oxford, England); Altabás-González I, Rúa-Figueroa I et. al.

Aug 13th, 2022 - To apply Lupus Low Disease Activity State (LLDAS) definition within a large cohort of patients and to assess the agreement between the LLDAS and the physician's subjective evaluation of lupus activity. A cross-sectional analysis of a prospective multicentre study of Systemic Lupus Erythematosus (SLE) patients. We applied the LLDAS and assessed whether there was agreement with the clinical statu...

Factors Associated with Behavioral Disorders in Children with Congenital Zika Syndrome ...
https://doi.org/10.3390/ijerph19159554
International Journal of Environmental Research and Publi... Arrais NMR, Maia CRS et. al.

Aug 13th, 2022 - The Zika virus was responsible for an outbreak between 2015 and 2016 in Brazil: an alarming public health problem of international relevance. The Congenital Zika Syndrome (CZS) is often associated with manifestations that are responsible for cognitive and motor development delays and behavioral disorders. Thus, we aimed to characterize the clinical-epidemiological and familial context of those ...

Efficacy and safety of belimumab in systemic lupus erythematosus patients with severe l...
https://doi.org/10.1177/09612033221119123
Lupus Liu D, Zhou Q et. al.

Aug 13th, 2022 - Systemic lupus erythematosus is a chronic inflammatory autoimmune disease that has various manifestations. Lupus nephritis is a common and severe presentation, which results in increased morbidity and mortality. Belimumab added on standard therapy has been proved to induce disease remission and improve renal parameters. However, the use of belimumab has not been explored in patients requiring d...

Hyper-reflective retinal foci as possible in vivo imaging biomarker of microglia activa...
https://doi.org/10.1371/journal.pone.0272318
PloS One; Pilotto E, Torresin T et. al.

Aug 13th, 2022 - von Hippel-Lindau (VHL) disease is caused by a mutation of the VHL gene and characterized by the development of retinal hemangioblastomas (RH). Current pathophysiologic mechanisms of RH development and progression are still insufficient to predict RH behavior. VHL gene is involved in the cellular response to hypoxia and in many intracellular signaling pathways expressed both in angiogenesis and...

Primary large B-cell lymphoma of the central nervous system with positive NMDAR antibod...
https://doi.org/10.1186/s12883-022-02821-z
BMC Neurology; Li X, Sun M et. al.

Aug 13th, 2022 - N-methyl-D-aspartate receptor (NMDAR) is an ionotropic glutamate (Glu) receptor that is widely expressed in the central nervous system (CNS), mainly in the hippocampus. We present a case in which the patient had atypical clinical manifestations and was positive for anti-NMDAR antibodies. A 40-year-old male was admitted to the hospital with "dizziness and double vision for 2 months". At admissio...

Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Rela...
https://doi.org/10.1007/s40257-022-00718-8
American Journal of Clinical Dermatology; Hasbani DJ, Hamie L et. al.

Aug 13th, 2022 - The term 'inherited ichthyosis' refers to a heterogeneous group of mendelian disorders of cornification that involve the integument with varying degrees of scaling. The management of ichthyosis poses a challenge for most physicians. Treatment options proposed in the literature include moisturizers, topical keratolytics, topical and systemic vitamin D analogues, and topical and systemic retinoid...

Post-COVID-19 neuropsychiatric manifestations among COVID-19 survivors suffering from m...
https://doi.org/10.1186/s10194-022-01468-y
The Journal of Headache and Pain; Magdy R, Elmazny A et. al.

Aug 13th, 2022 - The burden of post-coronavirus disease (COVID)-19 symptoms has been increasing and is of great concern in patients with pre-existing chronic medical conditions.This study aimed to delineate the post-COVID-19 neuropsychiatric symptoms among migraine patients compared to the non-migraine control group. Two groups, each of 204 COVID-19 survivors, were enrolled in the study after 3 months of severe...

Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still's Disease, and Related Conditions
https://clinicaltrials.gov/ct2/show/NCT03510442

Aug 12th, 2022 - The purpose of this protocol is to study the natural history, genetics and pathophysiology of systemic juvenile idiopathic arthritis (sJIA), adult-onset Still s disease (AOSD) and related inflammatory conditions. One of seven subtypes of juvenile idiopathic arthritis (JIA), sJIA contributes disproportionately to the morbidity and mortality of JIA and is considered by many to be the most severe ...

Long-term Follow-up of Participants With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product
https://clinicaltrials.gov/ct2/show/NCT02698579

Aug 12th, 2022 - This is a multi-center, long-term safety and efficacy follow-up study for participants with cerebral adrenoleukodystrophy (CALD) who have received Lenti-D Drug Product in a parent clinical study. After completing a parent clinical study (approximately 2 years), eligible participants will be followed for an additional 13 years for a total of 15 years post-drug product infusion. No investigationa...

Defining the Brain Phenotype of Children With Williams Syndrome
https://clinicaltrials.gov/ct2/show/NCT01132885

Aug 12th, 2022 - Williams syndrome (WS) is a rare disorder caused by hemizygous microdeletion of approximately 1.6 megabases on chromosomal band 7q11.23, typically by spontaneous mutation. The disorder is characterized by a collection of unique neuropsychiatric manifestations, including marked visuospatial construction deficits and hypersociability. Because the genes involved in WS are known, the study of neura...

Safety and Efficacy of Abatacept for Treating Chronic Cytopenia in Cytotoxic T-Lymphocyte Antigen 4 (CTLA4) Haploinsufficiency
https://clinicaltrials.gov/ct2/show/NCT03733067

Aug 12th, 2022 - Pr(SqrRoot)(Copyright)cis Rare heterozygous mutations in cytotoxic T-lymphocyte antigen-4 (CTLA4) lead to a monogenetic defect that presents with a heterogeneous clinical phenotype of recurrent infections, lymphoproliferation, autoimmunity, and lymphocytic infiltration of target organs. Management is challenging and focuses on treating infections, autoimmune complications, and end organ damage ...

Atorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
https://clinicaltrials.gov/ct2/show/NCT04915183

Aug 12th, 2022 - Study Description: Individuals undergoing cisplatin-based chemoradiation therapy are at risk for developing significant, permanent hearing loss. The cholesterol-lowering drug atorvastatin has the potential to reduce the incidence and severity of hearing loss, as evidenced by our preclinical data in mice and our retrospective data in humans.Here we will compare hearing changes between subjects o...

The Pathogenesis and Natural History of Sjogren s Syndrome
https://clinicaltrials.gov/ct2/show/NCT01425892

Aug 12th, 2022 - BACKGROUND Sj(SqrRoot)(Delta)gren s syndrome (SS) is an autoimmune disease characterized by chronic inflammation involving the exocrine glands. Salivary and lacrimal glands are predominantly affected leading to dry mouth and dry eyes but other exocrine organs are also frequently involved. It is one of the most common rheumatic autoimmune diseases, which effects between 1-4 million Americans, pr...

Imaging Genetics of Laryngeal Dystonia
https://clinicaltrials.gov/ct2/show/NCT03042975

Aug 12th, 2022 - Laryngeal dystonia (LD), or spasmodic dysphonia, is an isolated focal dystonia characterized by selective impairment of speech production due to involuntary spasms in the laryngeal muscles. Despite the well-characterized clinical features of LD, its clinical management remains challenging due, in part, to the absence of objective measures (biomarkers) for early detection and differential diagno...

Brain Networks in Dystonia
https://clinicaltrials.gov/ct2/show/NCT03042962

Aug 12th, 2022 - Task-specific primary focal dystonias (tsPFDs) are characterized by selective activation of dystonic movements during performance of highly learned motor tasks, such as writing, playing a musical instrument, speaking, or singing. Despite the recent advances in describing the clinical features of dystonia, there is a fundamental gap in understanding the neural abnormalities underlying the develo...

A Study to Investigate Blinatumomab in Combination With Chemotherapy in Patients With Newly Diagnosed B-Lymphoblastic Leukemia
https://clinicaltrials.gov/ct2/show/NCT03914625

Aug 12th, 2022 - PRIMARY OBJECTIVES: I. To determine in a randomized manner if the addition of 2 cycles of blinatumomab to standard therapy improves disease-free survival (DFS) in patients with standard risk (SR) B-ALL and higher risk features (SR-High), and patients with standard-risk average (SR-Avg) B-ALL who are negative for minimal residual disease (MRD) by flow cytometry but have detectable or indetermina...

Asymptomatic Congenital CMV Treatment
https://clinicaltrials.gov/ct2/show/NCT03301415

Aug 12th, 2022 - This is a phase II, open-label trial to evaluate valganciclovir as a treatment to prevent development of sensorineural hearing loss (SNHL) in infants with asymptomatic congenital cytomegalovirus (CMV) infection. The trial will be conducted in two phases - screening of newborns to identify eligible subjects, and treatment of those newborns who have confirmed CMV infection at birth but without ou...

Evaluation and Intervention for the Effects of Osteogenesis Imperfecta
https://clinicaltrials.gov/ct2/show/NCT00001594

Aug 12th, 2022 - We propose a longitudinal study of the natural history of types III and IV osteogenesis imperfecta for children age birth to 30 years. A consistent objective throughout this study is to obtain a comprehensive assessment of the natural history and progression of the multiple secondary features of osteogenesis imperfecta. In addition to radiographic, bone density, physical rehabilitation and dent...

Clinical and Laboratory Study of Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT00078078

Aug 12th, 2022 - Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer from complications such as metabolic stroke or infarction of the basal ganglia, pancreatitis, end stage renal failure, growth impairment, osteoporosis...