A5091402218- Autopsy Techniques and Outcomes
- Neuroscience of respiration and sleep
- Neonatal Respiratory Health Research
- Restraint-Related Deaths
- Helicobacter pylori-related gastroenterology studies
- Child Abuse and Related Trauma
- Gastrointestinal disorders and treatments
- Congenital Diaphragmatic Hernia Studies
- Pregnancy and preeclampsia studies
- Eosinophilic Esophagitis
- Neonatal and fetal brain pathology
- Fetal and Pediatric Neurological Disorders
- Forensic Entomology and Diptera Studies
- Urological Disorders and Treatments
- Esophageal and GI Pathology
- Tumors and Oncological Cases
- Gastroesophageal reflux and treatments
- Prenatal Screening and Diagnostics
- Congenital Anomalies and Fetal Surgery
- Sarcoma Diagnosis and Treatment
- Metabolism and Genetic Disorders
- Grief, Bereavement, and Mental Health
- Cardiac electrophysiology and arrhythmias
- Gastrointestinal Tumor Research and Treatment
- Congenital gastrointestinal and neural anomalies
Sheffield Children's NHS Foundation Trust
2015-2025
Sheffield Children's Hospital
2015-2025
University of Sheffield
2008-2025
Services Australia
2022
Baylor College of Medicine
2022
Case Western Reserve University
2022
Yale University
2022
Mount Sinai Hospital
2022
Australian National University
2022
Royal College of Pathologists
2022
Sudden arrhythmic death syndrome (SADS) describes a sudden with negative autopsy and toxicological analysis. Cardiac genetic disease is likely etiology.
BackgroundSudden infant death syndrome (SIDS) is the leading cause of post-neonatal in high-income countries. Central respiratory system dysfunction seems to contribute these deaths. Excitation that drives contraction skeletal muscles controlled by sodium channel NaV1.4, which encoded gene SCN4A. Variants NaV1.4 directly alter muscle excitability can myotonia, periodic paralysis, congenital myopathy, and myasthenic syndrome. SCN4A variants have also been found infants with life-threatening...
Abstract Objectives To describe three cases of placental mesenchymal dysplasia (PMD) associated with abnormal karyotype and review the reported in literature. Methods The were retrieved from files different institutions. A search English language literature was performed using Medline database. Results Placental abnormalities suggestive molar changes seen on prenatal ultrasound scans. Histologically, had large, hydropic stem villi myxomatous stroma, cistern formation ‘chorangiomatoid’...
Abstract Pertussis carries a high risk of mortality in very young infants. The mechanism refractory cardio‐respiratory failure is complex and not clearly delineated. We aimed to examine the clinico‐pathological features suggest how they may be related outcome, by multi‐center review clinical records post‐mortem findings 10 patients with fulminant pertussis (FP). All cases were less than 8 weeks age, required ventilation for worsening respiratory symptoms inotropic support severe hemodynamic...
The decline in the postmortem (PM) autopsy rate United Kingdom paralleled change public perception of this procedure after organ retention crisis 2000. introduction magnetic resonance imaging (MRI) fetal, perinatal, and pediatric led some investigators to propose that MRI could replace conventional PM. We assessed role fetal as an addition or a potential replacement method PM evaluate benefits limitations each technique. retrospectively reviewed examination 100 fetuses. was limited brain...
To report a large series of solitary and multiple myofibromas with systematic clinicopathological correlations. We on 114 patients myofibromas, 97 which were 17 multifocal. The age at presentation ranged from newborn to 70 years. All multifocal 91% occurred in children. head neck region was the most common site (n = 43), followed by trunk 24), lower limbs 14), upper 11), viscera 4). Solitary stained positively for smooth muscle actin (SMA) 95% 92% cases, muscle-specific (MSA) 75% 50% desmin...
Familial hemophagocytic lymphohistiocytosis 5 (FHL5) is an autosomal recessive disease caused by mutations in STXBP2, coding for Munc18-2, which required SNARE-mediated membrane fusion. FHL5 causes hematologic and gastrointestinal symptoms characterized chronic enteropathy that reminiscent of microvillus inclusion (MVID). However, the molecular pathophysiology FHL5-associated diarrhea poorly understood. Five patients, including four previously unreported were studied. Morphology duodenal...
The occurrence of subdural hemorrhage (SDH) on the convexities cerebral hemispheres is not an unusual finding in setting intrauterine, perinatal, or neonatal deaths, usually presenting either as a thin film over occipital poles small infratentorial bleed. Working 2 referral centers with 30 000 deliveries per year, we routinely examine dura macroscopically and histologically nonmacerated fetuses 24 weeks gestation neonates. This paper describes our experience intradural (IDH) SDH associated...
PURPOSE: To compare magnetic resonance (MR) angiography and fast MR imaging with spin-echo (SE) non-MR techniques in examination of the thoracic aorta. MATERIALS AND METHODS: Eighty-nine patients underwent breath-hold or cine angiography; SE was used 67 28. A comparison made (transthoracic echocardiography 49 patients, transesophageal 18, arteriography 33) findings those from surgery autopsy (16 patients). RESULTS: enabled differentiation slow flow thrombus, demonstrated aortic valve anatomy...
Two fatal childhood cases of the rare pulmonary blastoma are reported. One was associated with a congenital cystic adenomatoid malformation. Both neoplasms extended to involve visceral pleura and were entirely composed blastemal mesenchymal elements without recognizable neoplastic epithelial components. The component in both instances consisted malignant rhabdomyoblasts, undifferentiated mesenchyme, differentiated, apparently benign, cartilage. Review literature suggests that these features...
<h3>Objective</h3> To appraise the inter-agency protocol used in sudden unexpected death infancy (SUDI) cases South Yorkshire, UK. <h3>Design</h3> A retrospective audit of 121 postmortems carried out over a 3-year period was completed to assess adherence local guidelines introduced 2005 specifying required microbiological specimen set be collected at postmortem SUDI. Data on organisms isolated also collated and assessed for significance. <h3>Setting</h3> Sheffield Children9s Hospital...