Results 311 to 320 of about 1,166,174 (396)

Anti‐ADAMTS13 Antibodies Trajectory is Associated With ADAMTS13 Recovery in Immune‐Mediated TTP

American Journal of Hematology, EarlyView.
Anti‐ADAMTS13 IgG antibodies titer trajectory from baseline to day 7–14 post‐TPE as a reliable approach to identify iTTP patients at risk of late response to the triplet therapy regimen. ABSTRACT Current triplet regimens associating therapeutic plasma exchange (TPE), immunosuppression with corticosteroids and rituximab, and caplacizumab have ...
Marie Robert, Arthur Mageau, Ygal Benhamou, François Provôt, Jehane Fadlallah, Lionel Galicier, Elie Azoulay, Hafid Ait‐Oufella, Tomas Urbina, Pascale Poullin, Alain Wynckel, Coralie Poulain, Nihal Martis, Pierre Perez, Virginie Rieu, Yahsou Delmas, Jean‐Michel Halimi, Christelle Barbet, Amélie Seguin, Valérie Chatelet, Jean‐François Augusto, Mathieu Legendre, Olivier Moranne, Carole Philipponnet, Bérengère Cador, Raïda Bouzid, Bérangère S. Joly, Agnès Veyradier, Paul Coppo, on behalf of the French Reference Center for Thrombotic Microangiopathies   +29 more
wiley   +1 more source

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly, Maria Limmina, Dong Li, Suzanne P. MacFarland, Denise M. Adams, Sarah E. Sheppard   +10 more
wiley   +1 more source

Adjuvant trastuzumab for triple-positive breast cancer with chronic renal failure: A case report and review of literature. [PDF]

Medicine (Baltimore)
En W, Long Y.
europepmc   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

WCN24-651 PREVALENCE OF STAGE 3-5 CHRONIC KIDNEY DISEASE IN A FRENCH PACIFIC REMOTE ISLAND (NEW CALEDONIA)

Kidney International Reports
Jean-François CANTIN, ELODIE MAGNAT, MARINA CAUCHY, RAPHAEL COHEN, NOEMIE BAROUX, PASCALE DOMINGUE MENA   +5 more
doaj  

[Pituitary disorders in patients with end-stage chronic renal failure]. [PDF]

Probl Endokrinol (Mosk)
Markova TN, Kosova EV, Mishchenko NK.
europepmc   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Association between intestinal microflora and renal function in patients with chronic renal failure: A case-control analysis. [PDF]

Pak J Med Sci
Chen H, Xie X, Tang S.
europepmc   +1 more source

Melittin induces autophagy to alleviate chronic renal failure in 5/6-nephrectomized rats and angiotensin II-induced damage in podocytes. [PDF]

Nutr Res Pract
Zhang Y, Xu H, Qiao H, Zhao Y, Jiang M.
europepmc   +1 more source