Results 91 to 100 of about 80,007 (305)

The treatment tumors of anus

, 2020
Tato bakalářská práce se zabývá léčbou nádorů anu. V teoretické části jsme popisovali anatomii, klinické příznaky, epidemiologii, rizikové faktory, klasifikaci, diagnostiku, ale především je zaměřena na léčbu nádorů anu. Výzkumnou část bakalářské práce
Dáňa, Jakub
core  

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Sudden rupture of recurrent rectal prolapse complicated by small intestine evisceration from anus: a case study

Frontiers in Medicine
Evisceration of the small intestine from the anus is a rare complication following rectal injury. In patients with recurrent rectal prolapse, delayed surgical intervention can lead to rectal wall thinning due to chronic ischemia, increasing the risk of ...
Zhesen Tian, Xiaopeng Ma, Mingda Li, Hongxun Ruan, Guojian Zhang, Yalei Zhao   +5 more
doaj   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

A delayed necrosis and perforation of the small intestine caused by hyperthermic peritoneal dialysate: A case report and literature review

Asian Journal of Surgery, 2023
Xijuan Xu, Hongan Ying, Wenfeng Yu, Weiwen Hong   +3 more
doaj   +1 more source

Prevalence of enterotoxigenic Bacteroides fragilis in patients with colorectal cancer: a systematic review and meta-analysis

Frontiers in Cellular and Infection Microbiology
IntroductionThe gut microbiome, specifically enterotoxigenic Bacteroides fragilis (ETBF), has been reported to play a role in colorectal cancer development.
Shijun Xia, Lijuan Ma, Hui Li, Yue Li, Linchong Yu   +4 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Anti‐inflammatory and osteogenic effects of transcutaneous electrical nerve stimulation in knee osteoarthritis rats via the regulation of the intestinal microbiota

Animal Models and Experimental Medicine, EarlyView.
Transcutaneous electrical nerve stimulation (TENS) improved knee osteoarthritis (KOA) in rats by regulating interleukin‐1β (IL‐1β), IL‐6, and IL‐8 expressions and the bone morphogenetic protein 2 (BMP‐2)/transforming growth factor β (TGF‐β) signaling pathway.
Yan Sun, Tong Ma, Ran Chen, Lan Shen, Xun Tang, Zhiqiang Shen, Hongbin Zhao   +6 more
wiley   +1 more source

An ontological morphological phylogenetic framework for living and extinct ray‐finned fishes (Actinopterygii)

The Anatomical Record, EarlyView.
Abstract The ray‐finned fishes include one out of every two species of living vertebrates on Earth and have an abundant fossil record stretching 380 million years into the past. The division of systematic knowledge of ray‐finned fishes between paleontologists working on extinct animals and neontologists studying extant species has obscured the ...
Jack Stack
wiley   +1 more source