Results 21 to 30 of about 514,902 (292)

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]

, 2013
Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S, Kurzrock, Razelle, Schroeder, Rebecca Dunbar   +2 more
core   +3 more sources

Impact of overlap syndrome on severity of acute exacerbation of chronic obstructive pulmonary disease

Lung India, 2015
Background: The severity of exacerbation in chronic obstructive pulmonary disease (COPD) due to the overlap of obstructive sleep apnea syndrome (OSAS) is not known. Aims: To find out the 1) severity of acute exacerbation of COPD (AECOPD) in patients with
Dipti Gothi, Shiv Sagar Gupta, Nishith Kumar, Kartik Sood   +3 more
doaj   +1 more source

Research progress in overlap syndrome associated with systemic lupus erythematosus and its management strategies

Pifu-xingbing zhenliaoxue zazhi, 2023
Overlapping syndrome is a syndrome that meets the criteria for at least two connective tissue diseases. When systemic lupus erythematosus (SLE) overlaps with systemic sclerosis (SSc), dermatomyositis/polymyositis, Sjogren's syndrome (SS), rheumatoid ...
Zhen FENG, Qing GUO, Hui XIONG
doaj   +1 more source

Polyangiitis Overlap Syndrome.

Internal Medicine, 1997
A 33-year-old man was admitted to our hospital because of intermittent claudication and finger tip ulceration with a skin rash on the upper and lower extremities. He later developed a massive melena. Angiography revealed arterial occlusion in the hand and foot, skin biopsy showed vasculitis with eosinophilic infiltration, and biopsy of the colon showed
T, Shimizu, H, Kagawa, K, Katsura, K, Shirai, Y, Yamanaka, Y, Kishimoto, A, Okamura, S, Fukuhara   +7 more
openaire   +3 more sources

Overlap of Sturge-Weber syndrome and Klippel-Trenaunay syndrome

Indian Journal of Dermatology, 2011
Sturge-Weber syndrome is a rare sporadic condition of mesodermal phakomatosis, characterized by purple-colored flat cutaneous cranial (face) hemangiomas (most commonly along the trigeminal nerve), glaucoma and vascular lesions in the ipsilateral brain ...
Radheshyam Purkait, Tryambak Samanta, Tapankumar Sinhamahapatra, Mridula Chatterjee   +3 more
doaj   +1 more source

Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. [PDF]

, 2015
Aicardi-Goutières syndrome (AGS) is a severe childhood inflammatory disorder that shows clinical and genetic overlap with systemic lupus erythematosus (SLE).
Chédin, Frédéric, Hartono, Stella R, Lim, Yoong Wearn, Sanz, Lionel A, Xu, Xiaoqin   +4 more
core   +2 more sources

Upper gastrointestinal symptoms in autoimmune gastritis. A cross-sectional study [PDF]

, 2017
Autoimmune gastritis is often suspected for its hematologic findings, and rarely the diagnosis is made for the presence of gastrointestinal symptoms. Aims of this cross-sectional study were to assess in a large cohort of patients affected by autoimmune ...
Annibale, Bruno, Carabotti, Marilia, Esposito, Gianluca, Lahner, Edith, Sacchi, MARIA CARLOTTA, Severi, Carola   +5 more
core   +2 more sources

The Overlap Syndrome

Cureus, 2018
The overlap syndrome (OS) was first coined by David C. Flenley in 1985 to describe the coexistence of obstructive sleep apnea (OSA) in patients with chronic obstructive pulmonary disease (COPD). Patients with OS experience more profound nocturnal oxygen desaturation (NOD) than patients with OSA or COPD alone. This underlying hypoxia in OS increases the
Singh, Shantanu, Kaur, Harleen, Singh, Shivank, Khawaja, Imran   +3 more
openaire   +2 more sources

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

CaMKII-dependent regulation of cardiac Na(+) homeostasis. [PDF]

, 2014
Na(+) homeostasis is a key regulator of cardiac excitation and contraction. The cardiac voltage-gated Na(+) channel, NaV1.5, critically controls cell excitability, and altered channel gating has been implicated in both inherited and acquired arrhythmias.
Grandi, Eleonora, Herren, Anthony W
core   +2 more sources