Results 61 to 70 of about 37,267 (288)

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé, Lucía García‐DeLaFuente, Alejandro García‐Álvarez, Ginesa García‐Rostán, Jaume Capdevila, Jorge Hernando   +5 more
wiley   +1 more source

A Rare Case: Primary Pulmonary Amyloidosis

Düzce Tıp Fakültesi Dergisi
Amyloidosis is a rare disorder characterized by the extracellular deposition of insoluble protein aggregates. There are two common types of amyloidosis: Amyloid A (AA) and amyloid light chain (AL).
Ceyda Ceylan, Gülay Turan, Arslan Hirad Gani, Mustafa Kuzucuoğlu   +3 more
doaj   +1 more source

A Case of Systemic AL Amyloidosis Diagnosed by Screening Colonoscopy

Case Reports in Gastrointestinal Medicine, 2022
Amyloidosis encompasses several diseases associated with deposition of low-molecular-weight proteins in an abnormal configuration. In light-chain amyloidosis (AL), monoclonal free lambda (λ) or kappa (κ) light chains are the amyloid proteins involved and
Lynna Alnimer, Ali Zakaria, Jalpa Patel, Yazan Samhouri, Samira Ahsan, Lyle Goldman, Serge Sorser   +6 more
doaj   +1 more source

Glycosylation‐Dependent Stability of Human Pentraxin‐2 Revealed by Surface‐Induced Dissociation and Ion Mobility Mass Spectrometry

Angewandte Chemie International Edition, EarlyView.
The intricate glycosylation pattern of human Pentraxin‐2 (PTX‐2) poses a challenge in studying the structural impact of individual glycans. By combining surface‐induced dissociation (SID) or unfolding (SIU) with ion mobility mass spectrometry, we successfully differentiated the stability of glycoengineered PTX‐2 variants.
Philipp Bittner, Felix Kuhne, Adam Pruška, Julian A. Harrison, Natalie Preiss, Markus Haberger, Dietmar Reusch, Renato Zenobi   +7 more
wiley   +1 more source

A Case of AL Amyloidosis

International Journal of Clinical & Medical Imaging, 2015
Case: 45 year old lady presented with anorexia, weakness for last one year and development of deformity in her spine for last one and half years following fracture. On clinical examination she had mild bilateral pedal edema, kyphoscoliosis, tenderness over rib cage on left side.
Vijayan Ganesan, Adrija Hajra, Partha Sarathi Karmakar, yopadhyay D   +3 more
openaire   +2 more sources

Recent advances in understanding and treating immunoglobulin light chain amyloidosis [version 1; referees: 2 approved]

F1000Research, 2018
Immunoglobulin (Ig) light chain (AL) amyloidosis is a clonal plasma cell disorder characterized by misfolded Ig light chain deposition in vital organs of the body, resulting in proteotoxicity and organ dysfunction.
Talha Badar, Anita D'Souza, Parameswaran Hari   +2 more
doaj   +1 more source

Expert Perspective: Diagnosis and Treatment of Castleman Disease

Arthritis &Rheumatology, Accepted Article.
Summary Castleman disease (CD) is a major diagnostic challenge for Rheumatologists. Unicentric CD (UCD) involves one enlarged lymph node region whereas multicentric CD (MCD) involves multiple enlarged lymph node regions. Both UCD and MCD may exhibit a wide range of symptoms that overlap with other immune‐mediated conditions.
Luke Y.C. Chen, Lu Zhang, David C. Fajgenbaum   +2 more
wiley   +1 more source

A nationwide assessment of hepatocellular adenoma resection: Indications and pathological discordance

Hepatology Communications, EarlyView., 2022
Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring, Arthur K. E. Elfrink, Christiaan A. J. Oudmaijer, Paul C. M. Andel, Alicia Furumaya, Nenke de Jong, Colin J. J. M. Willems, Thijs Huits, Julie M. L. Sijmons, Eric J. T. Belt, Koop Bosscha, Esther C. J. Consten, Mariëlle M. E. Coolsen, Peter van Duijvendijk, Joris I. Erdmann, Paul Gobardhan, Robbert J. de Haas, Tjarda van Heek, Hwai‐Ding Lam, Wouter K. G. Leclercq, Mike S. L. Liem, Hendrik A. Marsman, Gijs A. Patijn, Türkan Terkivatan, Babs M. Zonderhuis, Izaak Quintus Molenaar, Wouter W. te Riele, Jeroen Hagendoorn, Alexander F. M. Schaapherder, Jan N. M. IJzermans, Carlijn I. Buis, Joost M. Klaase, Koert P. de Jong, Vincent E. de Meijer, the Dutch Benign Liver Tumor Group, R. B. Takkenberg, J. Verheij, O. M. van Delden, J. I. Erdmann, B. V. van Rosmalen, A. Furumaya, G. Kazemier, D. Ramsoekh, J. N. M. IJzermans, R. A. de Man, M. D. Doukas, M. G. Thomeer, A. J. Klompenhouwer, A. F. M. Schaapherder, M. E. Tushuizen, M. J. Coenraad, A. S. L. P. Crobach, M. C. Burgmans, S. Feshtali, M. M. E. Coolsen, M. Kramer, J. C. Beckervordersandforth, I. V. Samarska, C. van der Leij, R. Miclea, J. H. W. de Wilt, P. B. van den Boezem, E. T. T. L. Tjwa, I. Munsterman, S. Vos, S. van Koeverden, V. E. de Meijer, F. J. C. Cuperus, R. J. de Haas, E. W. Duiker, M. P. D. Haring   +70 more
wiley   +1 more source

Gastroparesis in a Patient with Gastric AL Amyloidosis

Case Reports in Gastroenterology, 2018
Systemic amyloidosis is a group of complex disorders characterized by the extracellular deposition of nonbranching fibrils in various tissues, ultimately leading to a variety of clinical presentations including isolated or multiorgan dysfunction. Amyloid
Matthew Hoscheit, Afrin Kamal, Michael Cline   +2 more
doaj   +1 more source