Suchergebnisse - "Congenital anomalies"

Sex differences in childhood cancer risk among children with major birth defects: a Nordic population-based nested case-control study

Autoren: Daltveit, Dagrun Slettebo Klungsoyr, Kari Engeland, Anders et al.

Quelle: International Journal of Epidemiology. 52(2):450-465

Schlagwörter: Childhood cancer, birth defects, congenital anomalies, sex differences, cancer risk

Dateibeschreibung: electronic

Zugangs-URL: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-512781
https://doi.org/10.1093/ije/dyac192

Frequency of Fetal Outcomes in Patients with Preexisting Placental Abnormalities. A Prospective Study in Tertiary Care Hospital

Autoren: Niama Khan Mohsin Khan Faiza khan et al.

Quelle: Journal of Gandhara Medical and Dental Sciences, Vol 12, Iss 3 (2025)

Schlagwörter: Placenta Abruption, Medicine (General), Placenta Accrete Spectrum (PAS), R5-920, Dentistry, Placenta Previa, Fetal congenital anomalies, Blood Transfusion, RK1-715, APGAR score

Zugangs-URL: https://doaj.org/article/b9e3b4ca181e46859a9fb44857d85021

Incidence of congenital microcephaly in the Czech Republic: The effect of maternal age

Autoren: Friedová, N. Šípek, A. Klaschka, J. (Jan) et al.

Quelle: Journal of Applied Biomedicine. 23:91-95

Schlagwörter: Congenital anomalies, Incidence, Microcephaly, Czech Republic, Maternal age

Zugangs-URL: https://hdl.handle.net/11104/0368101

Malformaciones congénitas en hospital de referencia de Seguridad Social en Honduras, propuesta de vigilancia modificada

Autoren: Briana Beltrán Santos Marleni Montes Jairo Aníbal Castellanos Girón et al.

Quelle: Revista Médica Hondureña, Vol 93, Iss 1, Pp 38-44 (2025)

Schlagwörter: congenital anomalies, epidemiological surveillance services, Medicine, honduras, epidemiological monitoring

Zugangs-URL: https://doaj.org/article/6aa535050230406abd27967bce8ed2bc

Safety and one-year follow-up analysis of percutaneous ASD closure at a tertiary care hospital

Autoren: Naga Raghunandan Thota Kamalakar Kosaraju John Satish Rudrapogu et al.

Quelle: Indian Heart J
Indian Heart Journal, Vol 77, Iss 3, Pp 199-203 (2025)

Schlagwörter: Congenital anomalies, RD1-811, RC666-701, Structural heart defects, Diseases of the circulatory (Cardiovascular) system, Transcatheter closure, Surgery, Original Article, Occluders, Atrial septum

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/40157568
https://doaj.org/article/47cd4cfd507843eb8252acadbdc5b52c

Congenital external hydrocephalus: A rare presentation of lobar holoprosencephaly in a neonate

Autoren: Rakshanda Agrawal Nishant Raj Vaishali Dhawan et al.

Quelle: Radiol Case Rep
Radiology Case Reports, Vol 20, Iss 5, Pp 2323-2327 (2025)

Schlagwörter: Congenital anomalies, Medical physics. Medical radiology. Nuclear medicine, Neonatal macrocephaly, Lobar holoprosencephaly, Pediatric neurosurgery, R895-920, Neuroimaging, Case Report, External hydrocephalus

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/40129779
https://doaj.org/article/d163ef9a25d5467abfcf9771bd959b5f

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations

Autoren: Charlotte Guillouet Valeria Agostini Geneviève Baujat et al.

Quelle: The American Journal of Human Genetics. 112:829-845

Schlagwörter: MED16, MEDopathies, Mediator complex, multiple congenital anomalies-intellectual disability syndrome

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/40081376
https://pure.eur.nl/en/publications/157658ad-9d8a-4e0e-96bb-6e8e7f42b5ca
https://doi.org/10.1016/j.ajhg.2025.02.016
https://hdl.handle.net/11573/1744618

Congenital Anomalies in Neonates: Findings from Six Baghdad Hospitals

Autoren: Bassam M. Al-Musawi Ali M. Khalid Nadin A. Kamal et al.

Quelle: مجلة كلية الطب, Vol 67, Iss 1 (2025)

Schlagwörter: Birth defects, Medicine (General), R5-920, Medicine, Neural Tube Defects, Multiple Congenital Anomalies

Zugangs-URL: https://doaj.org/article/680cafdd0865457691f10e1fa7bf2649

Recommendations for Improving Surveillance of Congenital Anomalies in Europe Using Healthcare Databases

Autoren: Maria Loane Joan K. Morris Ester Garne

Quelle: Paediatr Perinat Epidemiol

Schlagwörter: Male, Databases, Factual, congenital anomalies, Infant, Newborn, Infant, healthcare databases, Newborn, Congenital Anomalies, Europe/epidemiology, Congenital Abnormalities, Population Surveillance/methods, Europe, Congenital Abnormalities/epidemiology, Databases, quality, Pregnancy, Population Surveillance, recommendations, surveillance, Humans, Female, Registries, linkage, Factual

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39876484

Rare presentation of urachal remnant with suprapubic sinus: A case report.

Autoren: Cairo, Sarah Grisotti, Gabriella Lee, Hanmin

Schlagwörter: Congenital anomalies, Pediatric surgery, Urachal abscess, Urachal remnant, Vitelline duct remnant

Dateibeschreibung: application/pdf

Zugangs-URL: https://escholarship.org/uc/item/0dr7873t
https://escholarship.org/content/qt0dr7873t/qt0dr7873t.pdf

Esophageal atresia with concomitant hypertrophic pyloric stenosis: a case series and literature review

Autoren: Zhaozhou Liu An Wang Dingding Wang et al.

Quelle: BMC Pediatrics, Vol 25, Iss 1, Pp 1-7 (2025)

Schlagwörter: Esophageal atresia, Hypertrophic pyloric stenosis, Congenital anomalies, Pediatric surgery, Pediatrics, RJ1-570

Dateibeschreibung: electronic resource

Relation: https://doaj.org/toc/1471-2431

Zugangs-URL: https://doaj.org/article/85a4ae85fee64aefbf1059656c56388c

Advancements in prenatal diagnostics and the effects of EU regulatory frameworks, including the IVDR and MDR: A systematic review

Autoren: Ravi Adusumalli Rajkiran Reddy Banala

Quelle: Egyptian Journal of Medical Human Genetics, Vol 26, Iss 1, Pp 1-40 (2025)

Schlagwörter: Prenatal diagnostics, Non-invasive prenatal testing [NIPT], Genetic screening, Congenital anomalies, Maternal–fetal medicine, In Vitro Diagnostic Regulation [IVDR], Medicine (General), R5-920, Genetics, QH426-470

Dateibeschreibung: electronic resource

Relation: https://doaj.org/toc/2090-2441

Zugangs-URL: https://doaj.org/article/2eacd7f25db547d19bd4fb9311f85b5d

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort

Autoren: Katharina Lemberg Mohamed A. Shalaby Elena Zion et al.

Quelle: Kidney International Reports, Vol 10, Iss 10, Pp 3564-3577 (2025)

Schlagwörter: congenital anomalies of the kidney and urinary tract (CAKUT), cystic kidney disease, exome sequencing, nephrotic syndrome, stone disease, tubulopathy, Diseases of the genitourinary system. Urology, RC870-923

Dateibeschreibung: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2468024925004437; https://doaj.org/toc/2468-0249

Zugangs-URL: https://doaj.org/article/ee20ed27e1e54508bf239f377b7694a3

Antiretroviral drug exposure in pregnancy and risk of congenital anomalies: a European case/non-case malformed study

Autoren: Saint‐lary, Laura Beau, Anna-Belle Sommet, Agnès et al.

Weitere Verfasser: Saint‐lary, Laura Beau, Anna-Belle Sommet, Agnès et al.

Quelle: Eur J Clin Pharmacol
European journal of clinical pharmacology, vol. 81, no. 5, pp. 697-709

Schlagwörter: Adult, Congenital anomalies, Databases, Factual, Anti-HIV Agents, [SDV]Life Sciences [q-bio], Research, Humans, Pregnancy, Female, Abnormalities, Drug-Induced/epidemiology, Abnormalities, Drug-Induced/etiology, Europe/epidemiology, Anti-HIV Agents/adverse effects, Pregnancy Complications, Infectious/drug therapy, HIV Infections/drug therapy, Registries, Infectious Disease Transmission, Vertical/prevention & control, Zidovudine/adverse effects, Anti-Retroviral Agents/adverse effects, Young Adult, Antiretroviral drug, First trimester exposure, HIV, Abnormalities, Drug-Induced, HIV Infections, Infectious Disease Transmission, Vertical, [SDV] Life Sciences [q-bio], Europe, Anti-Retroviral Agents, Pregnancy Complications, Infectious, Zidovudine

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/40011239
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9FB809F971D86
https://serval.unil.ch/notice/serval:BIB_9FB809F971D8
https://serval.unil.ch/resource/serval:BIB_9FB809F971D8.P001/REF.pdf

The Healthcare Needs of Children With Down Syndrome in the First Year of Life: An Analysis of the EUROlinkCAT Data Linkage Study

Autoren: Sarah E. Seaton Judith Rankin Clara Cavero‐Carbonell et al.

Quelle: Paediatr Perinat Epidemiol

Schlagwörter: congenital anomalies, Down syndrome, epidemiology, Chromosomal Anomalies, intensive care

Dateibeschreibung: application/pdf

Intellectual development disorder syndrome with congenital anomalies of type 99, faceted female (OMIM: 300968), updated mutation in the USP9X gene

Autoren: A. Sh. Latypov E. V. Proskurin O. P. Sidorova et al.

Quelle: Русский журнал детской неврологии, Vol 19, Iss 4, Pp 52-57 (2025)

Schlagwörter: mitochondria, usp9x mutation (omim: 300968), congenital anomalies, Neurology. Diseases of the nervous system, RC346-429, intellectual retardation

Zugangs-URL: https://doaj.org/article/4c99af3139ee46e19e1cf6e1385e4707

Concurrent Manifestations of Type 1 Diabetes Mellitus and Nephrotic Syndrome in a Child with Unilateral Renal Hypo-dysplasia: A Case Report with Review of Literature

Autoren: Shagufa Marakkar Rehna K. Rahman Dhanya Soodhana et al.

Quelle: Indian Pediatrics Case Reports, Vol 5, Iss 1, Pp 5-8 (2025)

Schlagwörter: remission, congenital anomalies of kidney and urinary tract, anti-glutamic acid decarboxylase, prednisolone, genetics, Pediatrics, RJ1-570

Zugangs-URL: https://doaj.org/article/493bb50a63b74d959a8f6b295abc81da

Adams-Oliver Syndrome: Piecing Together the Puzzle of a Rare Condition

Autoren: Shiji Chalipat Cherukuri Rohit Kiran Allan Mathew et al.

Quelle: Medical Journal of Dr. D.Y. Patil Vidyapeeth, Vol 18, Iss 3, Pp 526-528 (2025)

Schlagwörter: congenital anomalies, Medicine, aplasia cutis congenita, transverse limb defects, adams-oliver syndrome

Zugangs-URL: https://doaj.org/article/f2b4b51ec2564b20a897f7fb245e6970

A Combination Of Vein Of Galen Aneurysmal Malformation And Bovine Aortic Arch In Newborn: A Case Report

Autoren: Krishna Deo Mandal Kalpana Subedi Unnati Amatya et al.

Quelle: Journal of Nepal Medical Association, Vol 63, Iss 285 (2025)

Schlagwörter: Medicine (General), R5-920, bovine aortic arch, congenital anomalies, arteriovenous malformation, vein of Galen malformation

Zugangs-URL: https://doaj.org/article/fd8c6e202ab14bd18bfb36ea06731bda

Uncovering the hidden hunger in translational research for periconceptional folic acid awareness among health care providers

Autoren: Sunita Singh Parul Sinha Abhay Singh

Quelle: Journal of Family Medicine and Primary Care, Vol 14, Iss 8, Pp 3266-3274 (2025)

Schlagwörter: accredited social health activist, anms, awareness, birth defects, cleft palate, congenital anomalies, congenital malformations, facial cleft, folic acid, iron–folic acid, micronutrient, neural tube defects reproductive age group, periconceptional, pre-eclampsia, prevention, stillbirth, weekly iron and fa supplementation, Medicine

Dateibeschreibung: electronic resource

Relation: https://journals.lww.com/10.4103/jfmpc.jfmpc_1642_24; https://doaj.org/toc/2249-4863; https://doaj.org/toc/2278-7135

Zugangs-URL: https://doaj.org/article/d7a43e79558a42f9b0b4d4a1f9e6cd9b