American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.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 +11 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT Early fetal echocardiography and serial surveillance are crucial in pregnancies complicated by pregestational diabetes. Tetralogy of Fallot with absent pulmonary valve syndrome may cause progressive cardiomegaly, ventricular hypertrophy, hydrops, and fetal demise.
Alireza Golbabaei +2 more
wiley +1 more source
Fulminant Secondary HLH Following EBV Reactivation in an Adult With Trisomy 21 After Teplizumab Treatment for Stage 2 Type 1 Diabetes. [PDF]
Diabetes CareKlemann C, Kordonouri O.
europepmc +1 more source
Utility of Preoperative Cardiac Workup for Children With Very Severe Obstructive Sleep Apnea
The Laryngoscope, Volume 136, Issue 10, Page 4534-4541, October 2026.In this retrospective study, we aimed to examine the prevalence and utility of obtaining a preoperative cardiac workup in children with very severe obstructive sleep apnea (OSA) prior to adenotonsillectomy. Of 144 patients with very severe OSA, 38 patients (26.4%) underwent a preoperative cardiac workup, and three of those 38 had abnormal findings ...
Danny A. Elias +3 more
wiley +1 more source
Diagnostic Value of Choroid Plexus-to-Lateral Ventricle Volume Ratio (CLVVR) in First-Trimester Screening (11-13⁺<sup>6</sup> Weeks) for Fetal Autosomal Aneuploidies. [PDF]
Int J Gen MedHuang S, Zhang C, Ding Y, Lv G.
europepmc +1 more source
The Association of Steroids and Pediatric Post‐Tonsillectomy Recovery: A Retrospective Review
Laryngoscope Investigative Otolaryngology, Volume 11, Issue 5, October 2026.ABSTRACT Objectives Pain, dehydration, and bleeding remain significant concerns for pediatric tonsillectomy patients. The literature is sparse on potential effects of postoperative, outpatient steroid prescribing practices among the post‐tonsillectomy pediatric population.
Sathvik Suryadevara +7 more
wiley +1 more source
Management of ketogenic diet therapy in patients with ileostomy: A report of 2 cases
Nutrition in Clinical Practice, Volume 41, Issue 5, Page 1514-1520, October 2026.Abstract This case series explores the feasibility and clinical considerations of implementing the ketogenic diet therapy (KDT) for epilepsy management in patients with ileostomies. Two pediatric patients with medication‐resistant epilepsy and ileostomies continued KDT under clinical supervision.
Braden J. Baker +5 more
wiley +1 more source
Diagnostic accuracy of cell-free DNA-based non-invasive prenatal testing for fetal aneuploidies: a systematic review. [PDF]
Front GenetAlhajlah S.
europepmc +1 more source
The Journal of Pathology, Volume 270, Issue 2, Page 241-254, October 2026.Abstract Reliable detection of structural variants (SVs) and copy number variations (CNVs) is crucial in the contemporary diagnostics of pediatric B‐cell acute lymphoblastic leukemia (B‐ALL). However, limitations of commonly used conventional and molecular cytogenetic methods may hinder the accurate genetic characterization of patients.
Anna Bekő +21 more
wiley +1 more source
A Case of Early Onset Scoliosis with Trisomy 1q and Monosomy 21q
Spine Surgery and Related ResearchYuta Fukase +8 more
doaj +1 more source