Results 101 to 110 of about 5,330 (203)

Rates of mental health concerns among individuals assessed at the GoodHope Ehlers-Danlos Syndrome Clinic

Orphanet Journal of Rare Diseases
Past research has indicated that individuals with Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobililty Spectrum Disorder (G-HSD) report psychological and psychiatric symptoms, particularly anxiety disorders and depressive symptoms, at much ...
P. Maxwell Slepian, Kristina Axenova, Molly McCarthy, Rachel Siegal, Keisha Gobin, Aliza Weinrib, Stephanie Buryk-Iggers, Daniel Santa Mina, Laura McGillis, Nimish Mittal, Joel Katz, Hance Clarke   +11 more
doaj   +1 more source

Demographic, clinical, and treatment characteristics of the juvenile primary fibromyalgia syndrome cohort enrolled in the Childhood Arthritis and Rheumatology Research Alliance Legacy Registry. [PDF]

, 2019
BackgroundTo describe the demographic, clinical, and treatment characteristics of youth diagnosed with juvenile primary fibromyalgia syndrome (JPFS) who are seen in pediatric rheumatology clinics.MethodsInformation on demographics, symptoms, functioning,
Boneparth, Alexis D, CARRA Registry Investigators, Connelly, Mark, Schikler, Kenneth N, Weiss, Jennifer E   +4 more
core   +1 more source

The effectiveness of a multidisciplinary intervention strategy for the treatment of symptomatic joint hypermobility in childhood:A randomised, single Centre parallel group trial (The Bendy Study) [PDF]

, 2019
Introduction: Joint hypermobility is common in childhood and can be associated with musculoskeletal pain and dysfunction. Current management is delivered by a multidisciplinary team, but evidence of effectiveness is limited.
A Bulbena, A Hakim, A Qvindesland, AG Canaway, Alex J. MacGregor, Allan Clark, AU Qureshi, B Smits-Engelsman, BL Loeys, Emma Jerman, F Malfait, G Garra, G Singh, Garry Barton, Holly Bacon, J Clinch, J Inocencio Arocena de, JC Cheng, K Stevens, K Stevens, Kate Armon, L Frohlich, Laura Watts, M Castori, M McCormack, MC Scheper, MM Schoemaker, MR Simpson, N Sahin, NM Lamari, P Beighton, P Beighton, Peter Bale, RH Engelbert, RH Engelbert, RP Hasija, S Kemp, SE Henderson, U Seçkin, V Easton, Vicky Easton   +40 more
core   +1 more source

Psychological aspects of arthritis : a thesis presented in partial fulfilment of the requirements for the degree of Master of Arts in Psychology at Massey University [PDF]

, 1985
PLEASE NOTE Pages 32-37 are missing from the original copyResearch was conducted with two groups of arthritic patients: patients with Rheumatoid Arthritis (RA) and patients with Spondyloarthritis (SA).
Crawford, Bryan Rodney
core  

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1427-1430, June 2026.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta [PDF]

, 2019
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal ...
Elcioglu, Nursel, Guillemyn, Brecht, Jagadeesh, Sujatha, Malfait, Fransiska, Nampoothiri, Sheela, Suresh, Beena, Symoens, Sofie, Turan, Serap, Yesodharan, Dhanya   +8 more
core   +1 more source

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome [PDF]

, 2012
A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel Syndrome (SS). Here, we provide the first identification of a Seckel Syndrome patient with mutations
A Ciccia, A Klingseisen, A Rauch, A. Malcolm R. Taylor, AD Borglum, Andrew O. M. Wilkie, D Cortez, DL Guernsey, E Griffith, E Kalay, EA Nam, Emma Hobson, EN Noensie, F Majewski, Gillian Carpenter, GK Alderton, GK Thornton, Grant S. Stewart, HL Ball, IM Ward, J Falck, J Goodship, JG Hall, Katrina Prescott, L Zou, LI Toledo, LS Bicknell, LS Bicknell, M Murga, M O'Driscoll, M Willems, Margaret Barrow, Mark O'Driscoll, Michiko Matsuse, Mohnish Suri, MS Al-Dosari, ND Lakin, Norisato Mitsutake, P Qvist, Penny A. Jeggo, Philip J. Byrd, PR Andreassen, Pradeep Vasudevan, RA Chanoux, RJ Gorlin, SA de Munnik, Sarah Walker, Siripan Limsirichaikul, Tom Stiff, Tomoo Ogi, V Paciotti, Y Namiki, Yuka Nakazawa   +52 more
core   +5 more sources

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

BMC Medical Genetics, 2017
Background Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly ...
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa   +7 more
doaj   +1 more source

Hearing impairment in Stickler syndrome: a systematic review [PDF]

, 2012
BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance ...
Acke, Frederic, De Leenheer, Els, Dhooge, Ingeborg, Malfait, Fransiska   +3 more
core   +2 more sources

Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders

Advances in Rheumatology
Hereditary connective tissue disorders include more than 200 conditions affecting different organs and tissues, compromising the biological role of the extracellular matrix through interference in the synthesis, development, or secretion of collagen and ...
Nilton Salles Rosa Neto, Ivânio Alves Pereira, Flávio Roberto Sztajnbok, Valderílio Feijó Azevedo   +3 more
doaj   +1 more source