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516 articles
November 202624
Alfred Kocher technique for prevention of patient-prosthesis mismatch in paediatric patients.
A 7-year-old girl requiring aortic valve replacement had a functionally unicuspid aortic valve. Although the Ross procedure is generally favored in children, an intraoperative bicuspid pulmonary valve made durable…
Optimizing survival and long-term outcomes in complex pediatric digital amputations: a case report with a 6.5-year follow-up.
A 1.5-year-old boy sustained complete thermal-crush amputations of the left index, middle, and ring fingers in an industrial sealer injury.
Cannula exchange for refractory cannula infections during Berlin Heart EXCOR support: a case report.
A 4-year-old girl with truncus arteriosus and severe heart failure received Berlin Heart EXCOR (BHE) support after complex cardiac surgery.
Fetal myelomeningocele repair: Rome Fondazione Policlinico A. Gemelli IRCCS experience.
A fetus with distal lumbar myelomeningocele was assessed by fetal MRI, which showed a 23 × 11-mm defect, ventricular dilatation, and Chiari II malformation. Open fetal repair was performed at 25 weeks of gestation.
Pearls & Oy-sters: Anti-GABA A Receptor Encephalitis Presenting as Fulminant Hemicerebellitis in a 5-Year-Old Girl.
A previously healthy 5-year-old girl developed acute neurologic decline after several days of fever and malaise. CT showed severe right cerebellar inflammation and edema with fourth-ventricle effacement, prompting…
Adrenal ganglioneuroma in an adolescent presenting as an incidentaloma: Imaging-pathology correlation and diagnostic challenges: A case report.
A previously healthy 16-year-old male had a right adrenal mass discovered incidentally on CT after a bicycle accident. CT and MRI showed a well-circumscribed lesion with progressive enhancement and no washout or…
Allan-Herndon-Dudley syndrome associated with SLC16A2 c.1384G>A (p.Gly462Arg): A family case report with retrospective molecular diagnosis in a deceased sibling.
A boy evaluated at 4.3 years had profound developmental delay, abnormal tone, dystonia, muscle atrophy, contractures, and bilateral cryptorchidism.
Concurrent prenatal diagnosis of hereditary neuropathy with liability to pressure palsies and congenital pulmonary airway malformation: A case report.
At 24 weeks’ gestation, ultrasound in a 38-year-old woman showed a right fetal thoracic lesion with blood supply from the right pulmonary artery, consistent with congenital pulmonary airway malformation (CPAM).
Intestinal tuberculosis with multiple intestinal perforations in a 5-month-old infant: The role of metagenomic next-generation sequencing: a case report and literature review.
A 5-month-old boy presented with fever and abdominal distension that progressed to intestinal obstruction and multiple perforations involving the distal ileum and appendiceal region.
Spontaneous recanalization of pediatric internal carotid artery dissection during aspirin monotherapy: a retrospective case series.
This retrospective series described five children with acute arterial ischemic stroke due to intracranial internal carotid artery dissection.
When a glabellar dermoid cyst is not the whole story: the significance of MRI in excluding intracranial segments.
A 14-month-old boy underwent removal of a glabellar dermoid cyst considered extracranial. He remained asymptomatic, but surveillance MRI 10 months later showed a right frontal parasagittal intracranial lesion…
Esketamine-Based Versus Sevoflurane-Based Anesthesia with Dexmedetomidine for Emergence Agitation in Pediatric Corneal Suture Removal: A Randomised Controlled Trial.
Corneal suture removal, particularly microsurgery requiring complete immobility, demands adequate anesthetic depth while ensuring rapid recovery.
Delayed Diagnosis of Bilateral Congenital Choanal Obstruction in a 4-Year-Old Girl: Transnasal Repair with Temporary Stenting and Short-Term Outcome: A Case Report.
A 4-year-old girl had lifelong bilateral nasal obstruction, mouth breathing, snoring, poor sleep, easy tiredness, intermittent rhinorrhoea, and recurrent respiratory infections, with breastfeeding difficulty in infancy.
Cutaneous Aspergillosis Among Extremely Preterm Neonates in Neonatal Intensive Care Units - Michigan and New York, 2023-2024.
Cutaneous aspergillosis is a rare, life-threatening fungal infection in neonates, particularly those born extremely preterm (gestational age <28 weeks); outbreaks have been linked to environmental sources of Aspergillus…
De novo SETD5 missense variants in individuals with MRD23 cluster within the protein's SET domain.
SETD5 heterozygous loss-of-function (LoF) variants and 3p25.3 deletions containing the SETD5 gene cause intellectual developmental disorder, autosomal dominant 23 (MRD23).
Perinatal multidisciplinary management for neonates with prenatally-diagnosed congenital complete heart block undergoing early epicardial pacemaker implantation: a retrospective single-center case series.
This retrospective single-center series described four neonates with prenatally diagnosed isolated congenital complete heart block who required early epicardial pacemaker implantation.
"Fatal venous thromboembolism and divergent phenotypes in DOCK8 deficiency: a three-sibling case series".
Three siblings with genetically confirmed DOCK8 deficiency had early-onset atopic dermatitis, recurrent respiratory infections, and failure to thrive. All developed bronchiectasis and severe viral infections.
KARS1-Related Infantile-Onset Progressive Leukoencephalopathy With or Without Deafness: A Novel Variant and Phenotypic Expansion.
A two-year-old Iranian boy born to non-consanguineous parents presented with developmental delay, seizures, and sensorineural hearing loss.
Shotgun metagenomic characterization of human adenovirus F40 and a non-cpe Clostridium perfringens strain in pediatric prolonged diarrhea: a genome-resolved case study.
A child with prolonged diarrhea had adenovirus identified as the sole pathogen by routine testing. Shotgun metagenomic sequencing of stool confirmed human adenovirus F40 (HAdV-F40), phylogenetically distinct from…
Pediatric suprasellar primary CNS lymphoma with cavernous sinus invasion and ischemic stroke: a case report and systematic review.
A 12-year-old immunocompetent girl presented with high fever, severe headache, and diplopia, followed by rapid neurological deterioration.
Tegmental Heterotopia in PHACE Syndrome: A Previously Undescribed Feature.
The report describes two infants with PHACE syndrome and infratentorial neuroglial heterotopia involving the tectal plate. A 6-week-old infant with a right segmental facial hemangioma and ventricular septal defect had…
Severe neuropsychiatric manifestations in a 17-year-old male with a 20p13 interstitial deletion encompassing CSNK2A1: a case report.
A 17-year-old male had a de novo interstitial 419 kb deletion at 20p13 encompassing CSNK2A1. His presentation was considered compatible with Okur-Chung neurodevelopmental syndrome, although the deletion was described as…
Green Vaginal Discharge in a Late-Preterm Neonate With Massive Ascites.
A late-preterm girl developed abdominal distension and respiratory distress shortly after birth, with anemia, coagulopathy, and massive ascites containing internal debris on ultrasonography.
Dual Remission of Atopic Dermatitis and Frequently Relapsing Nephrotic Syndrome With Dupilumab.
A 9-year-old girl had atopic dermatitis and frequently relapsing, steroid-sensitive nephrotic syndrome, with relapses increasing despite treatment with two immunosuppressants.
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