Results 41 to 50 of about 6,451 (194)

Asplenia in ATR-X syndrome: a second report.

, 2005
Mutation at the ATR-X locus is associated with severe mental retardation. Several conditions, initially reported as clinically distinct phenotypes, have now been attributed to ATR-X mutation.
Chris Fisher, William Reardon, Mohnish Suri, Roy K. Philip, Richard J. Gibbons, Ronan T. Leahy   +5 more
core   +1 more source

Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia

Molecular Cytogenetics, 2021
Background Isolated Congenital Asplenia (ICA, OMIM #271400) is a rare, life-threatening abnormality causing immunodeficiency, which is characterized by the absence of a spleen.
Aleksandra Oszer, Katarzyna Bąbol-Pokora, Sylwia Kołtan, Agata Pastorczak, Wojciech Młynarski   +4 more
doaj   +1 more source

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations

Journal of Clinical Laboratory Analysis, EarlyView.
This study combined karyotyping, copy number variation sequencing, and whole‐exome sequencing to assess the value of genetic testing in the prenatal diagnosis of congenital heart disease (CHD) and to evaluate the relationship between genetic variants and prenatal phenotypes.
Jieqiong Xie, Yanru Huang, Xingmei Yao, Lutan Zhang, Yixi Zhou, Wenbo Wang, Jian Zhang, Yunsheng Ge   +7 more
wiley   +1 more source

Sickle Cell Disease: Historical Overview and Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide, yet the limited treatment options currently available do not always adequately control the disease and carry significant side effects. At present, the only curative treatment is hematopoietic stem cell (HSC) transplantation, a procedure that carries considerable challenges and numerous ...
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

Cisterna Chyli Dilation Is a Risk Factor for Liver Nodules and Hepatocellular Carcinoma in Fontan‐Associated Liver Disease: Pathophysiological Role of Lymphatic Dysfunction

Hepatology Research, EarlyView.
ABSTRACT Aim In Fontan‐associated liver disease (FALD), chronic congestion often confounds conventional fibrosis markers, complicating surveillance for hepatocellular carcinoma (HCC). Although lymphatic dysfunction is fundamental to Fontan physiology, its contribution to hepatocarcinogenesis remains unclear.
Koji Imoto, Masatake Tanaka, Takeshi Goya, Yuuki Azuma, Tomonobu Hioki, Yusuke Morita, Keisuke Sakaguchi, Nobuhiro Fujita, Takamori Kakino, Ayako Ishikita, Kenichiro Yamamura, Ichiro Sakamoto, Kousei Ishigami, Kohtaro Abe, Yoshihiro Ogawa   +14 more
wiley   +1 more source

Northern Region asplenia register - analysis of first two years

Objectives-To assess the feasibility of setting up a register of patients with asplenia within a defined geographical area; to ensure that guidelines on best practice were implemented; to obtain information on antibody levels to pneumococcal capsular ...
Spickett GP, Bullimore J, Smith S, Saunders P, Wallis J   +4 more
core   +4 more sources

Early and long-term outcomes following cardiac surgery for patients with heterotaxy syndromeCentral MessagePerspective

JTCVS Open
Objective: Heterotaxy syndrome is a complex multisystem abnormality historically associated with high morbidity and mortality. We sought to evaluate the early and long-term outcomes after cardiac surgery in heterotaxy syndrome.
Victor S. Alemany, MD, MS, Alexis Crawford, BA, Kimberlee Gauvreau, ScD, Emily M. Bucholz, MD-PhD, MPH, Pedro J. del Nido, MD, David N. Schidlow, MD, MMus, Meena Nathan, MD, MPH   +6 more
doaj   +1 more source

Novel Targeting to XCR1+ Dendritic Cells Using Allogeneic T Cells for Polytopical Antibody Responses in the Lymph Nodes

Frontiers in Immunology, 2019
Vaccination strategy that induce efficient antibody responses polytopically in most lymph nodes (LNs) against infections has not been established yet.
Yusuke Kitazawa, Hisashi Ueta, Yasushi Sawanobori, Tomoya Katakai, Hiroyuki Yoneyama, Satoshi Ueha, Kouji Matsushima, Nobuko Tokuda, Kenjiro Matsuno   +8 more
doaj   +1 more source

Assessing the Vulnerability of Splenectomized Patients to Severe COVID-19 Outcomes: A Systematic Review and Meta-Analysis

Vaccines
Background: Splenectomized/asplenic individuals are at a heightened risk for severe infections due to compromised immune function. However, the impact of splenectomy/asplenia on COVID-19 outcomes remains underexplored.
Francesco Paolo Bianchi, Massimo Giotta, Andrea Martinelli, Maria Grazia Giurgola, Giulia Del Matto, Elita Mastrovito, Maria Tina Fedele, Giuseppe Manca, Salvatore Minniti, Maurizio De Nuccio, Vincenzo Gigantelli, Silvio Tafuri, Stefano Termite   +12 more
doaj   +1 more source

PIH1D2 Loss‐of‐Function Directs Ciliary and Cell Cycle Defects Resulting in Left Isomerism With or Without Biliary Atresia

Liver International, Volume 46, Issue 11, November 2026.
ABSTRACT Background & Aims Laterality disorders are rare congenital conditions caused by disruption of left–right embryonic patterning, often associated with ciliary dysfunction. Despite the identification of numerous causative genes, the molecular basis remains unresolved in many patients.
Alina Kurolap, Chofit Chai Gadot, Adel Shalata, Orly Eshach Adiv, Yam Amir, Bar Levy Lando, Florian Stehling, Tova Hershkovitz, Khaled Osman, Clair Habib, Hila Mintz, Ran Steinberg, Amit Hochberg, Uri Hamiel, Adi Mory, Daphna Marom, Sandra von Hardenberg, Amihood Singer, Bernd Auber, Hagit Baris Feldman   +19 more
wiley   +1 more source