Results 91 to 100 of about 76,750 (219)

Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay

Sultan Qaboos University Medical Journal, 2013
Female carriers of balanced translocations involving an X chromosome and an autosome offer genetic counselling challenges. This is in view of the number of possible meiotic outcomes, but also due to the impact of X chromosome-localised genes that are no ...
Karen L. Sheath, Roberto L. Mazzaschi, Salim Aftimos, Nerine E. Gregersen, Alice M. George, Donald R. Love   +5 more
doaj  

Sudden Unexpected Postnatal Collapse: A Retrospective Cohort Study Describing Incidence, Risk Factors and Role of Perinatal Transition

Acta Paediatrica, EarlyView.
ABSTRACT Aim This study aimed to investigate the incidence, risk factors and possible aetiology of sudden unexpected postnatal collapse (SUPC), a potentially fatal yet poorly understood event. Methods In a retrospective cohort, patient records from 483 284 infants born in Stockholm, Sweden, between 2002 and 2022 were screened for SUPC‐related diagnoses.
David Forsberg, Louise Steinhoff, Gustaf Drevin, Helena Idborg, Nicolas J. Pejovic, Eric Herlenius   +5 more
wiley   +1 more source

Effectiveness of Fetal Medicine Foundation’s Non-Biochemical Risk Calculation Algorithm in Detection of Common Trisomies Screening at 11–13 weeks of Gestation: 12 Years’ Experience in Northern Thailand

International Journal of Women's Health
Chayanid Kunanukulwatana, Fuanglada Tongprasert, Suchaya Luewan, Theera Tongsong Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, ThailandCorrespondence: Fuanglada Tongprasert, Department of Obstetrics and ...
Kunanukulwatana C, Tongprasert F, Luewan S, Tongsong T   +3 more
doaj  

Early non-invasive epigenetic approach for assessing trisomy risk in maternal plasma

Frontiers in Medicine
BackgroundKaryotyping is the standard confirmatory test for identifying chromosomal abnormalities, such as Trisomy 21, which requires amniotic fluid from pregnant women.
Tridiv Katiyar, Medha Srivastava, Suman Mishra, Swasti Tiwari, Shubha Phadke   +4 more
doaj   +1 more source

Distinct clinical and genetic characteristics of myelodysplastic syndrome in younger patients

British Journal of Haematology, EarlyView.
Summary Myelodysplastic neoplasms (formerly myelodysplastic syndromes, MDS) are heterogeneous clonal haematological malignancies that primarily affect the elderly, though a notable proportion of patients are diagnosed at younger ages. We retrospectively analysed 1437 patients diagnosed or treated at Asan Medical Center between 1989 and 2022, comparing ...
Hyunkyung Park, Eun‐Ji Choi, Young‐Uk Cho, Yunsuk Choi, Han‐Seung Park, Jung‐Hee Lee, Joon Young Hur, Jisu Jeong, Seungah Cha, Yueun Lee, Young‐Shin Lee, Young‐Ah Kang, Mijin Jeon, Ji Min Woo, Hyeran Kang, Je‐Hwan Lee   +15 more
wiley   +1 more source

Mosaic trisomy 12 at amniocentesis: prenatal diagnosis and molecular genetic analysis

, 2013
[[abstract]]OBJECTIVE: This study is aimed at prenatal diagnosis of mosaic trisomy 12 and reviewing the literature. MATERIALS AND METHODS: A 34-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age.
陳持平;Chen, Chih-Ping;Su, Yi-Ning;Su, Yi-Ning;Su, Jun-Wei;Su, Jun-Wei;Ch, Schu-Rern;Chern, Schu-Rern;Chen, Yu-Ting;Chen, Yu-Ting;Chen, Li-Feng;Chen, Li-Feng;Wang, Wayseen;Wang, Wayseen
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Ibrutinib versus allogeneic haematopoietic stem cell transplant in relapsed/refractory del(17p) chronic lymphocytic leukaemia/small lymphocytic lymphoma

British Journal of Haematology, EarlyView.
After adjusting for confounders, the ibrutinib cohort had significantly better overall survival (adjusted hazard ratio, 0.39; 95% confidence interval, 0.23–0.68; p = 0.0008) than the allogeneic haematopoietic stem cell transplantation (alloHSCT) cohort.
Farrukh T. Awan, Ran Liu, Hsin‐Hui Huang, Matthew Bye, Kwang Woo Ahn, Gabriel Krigsfeld, Anat Raz, Heather Wolfe, Mehdi Hamadani   +8 more
wiley   +1 more source

PTEN homozygous deletion is a negative prognostic factor in tumor treating fields‐treated glioblastoma, IDH wildtype patients

Brain Pathology, EarlyView.
In a molecularly confirmed cohort of 64 newly diagnosed, TTFields‐treated glioblastomas, IDH‐wildtype, homozygous PTEN deletion was associated with markedly shorter overall survival (368 vs. 603 days) and remained an independent adverse prognostic factor.
Jakob Nückles, Claudius Jelgersma, Christin Siewert, Brendan Osberg, Simone Schmid, Arend Koch, Eilís Perez, Daniel Teichmann, Martin Misch, Anna‐Gila Karbe, Susanne Ukrow, Patrick N. Harter, Ruth M. Stassart, Peter Vajkoczy, Julia Onken, David Capper   +15 more
wiley   +1 more source

Benefits of Maternal Choline Supplementation on Aged Basal Forebrain Cholinergic Neurons (BFCNs) in a Mouse Model of Down Syndrome and Alzheimer’s Disease

Biomolecules
Down syndrome (DS), stemming from the triplication of human chromosome 21, results in intellectual disability, with early mid-life onset of Alzheimer’s disease (AD) pathology.
Melissa J. Alldred, Harshitha Pidikiti, Kyrillos W. Ibrahim, Sang Han Lee, Adriana Heguy, Gabriela Chiosis, Elliott J. Mufson, Grace E. Stutzmann, Stephen D. Ginsberg   +8 more
doaj   +1 more source

Prenatal sonographic features of fetuses in trisomy 13 pregnancies (III)

, 2012
[[abstract]]Prenatal ultrasound is a powerful tool for the detection of structural abnormalities of fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of trisomy 13 fetuses in the second ...
陳持平;Chen, Chih-Ping
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