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163 results on '"Jevon, Gareth"'

2. Navigating an unexpected diagnosis - experience of a tertiary referral centre with two cases of intraplacental choriocarcinoma.

Author

Chun Wei, Caleb LIM, PUNJABI, Lavisha S., BHATIA, Anju, Qiu Ju NG, JEVON, Gareth Peter, and AGGARWAL, Ieera Madan

Abstract

Intraplacental choriocarcinoma is a rare tumour, with approximately 62 reported cases. It may manifest as a spectrum of disease ranging from an incidental lesion diagnosed on routine placental examination to disseminated maternal and/or neonatal disease. In this case series, we presented two rare cases of intraplacental choriocarcinoma with extremely varied clinical presentations. The extremely varied clinical presentations of both patients described in the case series complicated the process of arriving at the diagnosis. In both cases, subsequent investigations showed no maternal or neonatal metastasis, and maternal serum beta-hCG levels downtrended with conservative management. We aim to highlight the importance of performing a detailed physical examination and evaluation of the patient and multidisciplinary management with oncology opinion. A detailed examination of the placenta should also be considered when faced with obstetric complications so that early diagnosis and the required management can be executed in a prompt fashion. [ABSTRACT FROM AUTHOR]

Published
2024

6. Severe congenital cutis laxa:Identification of novel homozygous LOX gene variants in two families

Author

McKenzie, Fiona, Mina, Kym, Callewaert, Bert, Beyens, Aude, Dickinson, Jan E., Jevon, Gareth, Papadimitriou, John, Diness, Birgitte Rode, Steensberg, Jesper Norman, Ek, Jakob, Baynam, Gareth, McKenzie, Fiona, Mina, Kym, Callewaert, Bert, Beyens, Aude, Dickinson, Jan E., Jevon, Gareth, Papadimitriou, John, Diness, Birgitte Rode, Steensberg, Jesper Norman, Ek, Jakob, and Baynam, Gareth

Abstract

We report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post-mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures. The presence of fractures initially suggested a diagnosis of osteogenesis imperfecta. Under light microscopy bony matrices were abnormal and arterial wall architecture was grossly abnormal showing fragmented elastic fibres. Molecular analysis of known cutis laxa genes did not yield any pathogenic defects. Whole exome sequencing of DNA following informed consent identified two separate homozygous variants in the LOX (Lysyl Oxidase) gene. LOX belongs to the 5-lysyl oxidase gene family involved in initiation of cross-linking of elastin and collagen. A mouse model of a different variant in this gene recapitulates the phenotype seen in the three babies. Our findings suggest that the LOX gene is a novel cause of severe congenital cutis laxa with arterial tortuosity, bone fragility and respiratory failure.

Published
2021

10. Can tissue transglutaminase antibody titers replace small-bowel biopsy to diagnose celiac disease in select pediatric populations?

Author

Barker, Collin C., Mitton, Craig, Jevon, Gareth, and Mock, Thomas

Subjects
Type 1 diabetes -- Diagnosis, Type 1 diabetes -- Care and treatment, Celiac disease -- Risk factors, Celiac disease -- Diagnosis, Celiac disease -- Care and treatment
Abstract

Objectives. The use of screening tests for celiac disease has increased the number of patients referred for evaluation. We proposed that the subgroup of patients with very high tissue transglutaminase antibody (TTG) titers is positive for celiac disease and a small-bowel biopsy is not necessary to make the diagnosis. A gluten-free diet should be attempted and, if the patient's symptoms do not improve, then a biopsy should be performed to confirm the diagnosis. Methods. A chart review of data for 103 patients who underwent both TTG testing and a small-bowel biopsy was performed. We examined the impact of using TTG values of >100 U and Results. Fifty-eight of 103 patients demonstrated positive biopsy results. Forty-nine of 103 patients had TTG levels of >100 U, with 48 of 49 exhibiting positive biopsy results. Only 7 of 16 patients with TTG values of 20 to 100 U exhibited positive biopsy results. Three patients with TTG levels of 100 U and Conclusions. When the cutoff values were changed to >100 and, ABBREVIATIONS. TTG, tissue transglutaminase antibody; EGD, esophagogastroduodenoscopy; IDDM, insulin-dependent diabetes mellitus. Celiac disease is the most common cause of malabsorption in western nations, with an estimated prevalence of 1 case [...]

Published
2005

18. Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.

Author

McKenzie, Fiona, Mina, Kym, Callewaert, Bert, Beyens, Aude, Dickinson, Jan E., Jevon, Gareth, Papadimitriou, John, Diness, Birgitte Rode, Steensberg, Jesper Norman, Ek, Jakob, and Baynam, Gareth

Subjects
GENETIC variation, LYSYL oxidase, AUTOPSY, LABORATORY mice, DNA sequencing, RECESSIVE genes
Abstract

We report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy‐textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post‐mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures. The presence of fractures initially suggested a diagnosis of osteogenesis imperfecta. Under light microscopy bony matrices were abnormal and arterial wall architecture was grossly abnormal showing fragmented elastic fibres. Molecular analysis of known cutis laxa genes did not yield any pathogenic defects. Whole exome sequencing of DNA following informed consent identified two separate homozygous variants in the LOX (Lysyl Oxidase) gene. LOX belongs to the 5‐lysyl oxidase gene family involved in initiation of cross‐linking of elastin and collagen. A mouse model of a different variant in this gene recapitulates the phenotype seen in the three babies. Our findings suggest that the LOX gene is a novel cause of severe congenital cutis laxa with arterial tortuosity, bone fragility and respiratory failure. [ABSTRACT FROM AUTHOR]

Published
2021
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25. Endoscopic and Histologic Findings in Pediatric Inflammatory Bowel Disease

Author

Jevon, Gareth P. and Madhur, Ravikumara

Subjects
Feature, digestive system diseases
Abstract

Inflammatory bowel disease (IBD) is an increasingly important cause of gastrointestinal pathology in children. Approximately 25% of IBDs present before the patient is 20 years of age. Accurate diagnosis and differentiation between Crohn's disease (CD) and ulcerative colitis (UC) is important in planning treatment strategies, particularly in children. Endoscopy, which allows direct visualization of gastrointestinal mucosa and biopsy of multiple sites, is an integral part of this diagnostic process. Although no endoscopic lesion is pathognomonic of IBD, certain features are highly suggestive of either CD or UC. In this article, we review and attempt to correlate endoscopic and histologic findings in IBD that have particular emphasis on the pediatric population.

Published
2010

45. Iatrogenic Gastroschisis Decreases Pulmonary Hypoplasia in an Ovine Congenital Diaphragmatic Hernia Model

Author

Montgomery, Lynn D., primary, Belfort, Michael A., additional, Saade, George R., additional, Baker, Wycke, additional, Pokorny, William, additional, Minifee, Paul, additional, Langston, Claire, additional, Jevon, Gareth, additional, Van den Veyver, Igna, additional, Robie, Dan, additional, Longmire, Steve, additional, Palacios, Quisqueya, additional, and Moise, Jr, Kenneth J., additional

Published
1995
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49. Epstein-Barr Virus in Non-Hodgkin's Lymphomas and Lymphoid Tissue in Children

Author

Jevon, Gareth, Elavathil, Leela, Harnish, Delworth, and deSa, Derek

Abstract

In developed countries the majority of adolescent children show serological evidence of past Epstein-Barr virus (EBV) infection. This virus is associated with non-Hodgkin's lymphomas in immunocompromised children, but the relationship of EBV DNA to these tumors in children without documented immunodeficiency has not been investigated by the polymerase chain reaction (PCR). We used a PCR method with primers from the Bam W and Bam HI regions to study non-Hodgkin's lymphomas in children, with tonsillar tissue of age-matched children as controls for the presence of EBV DNA. Six of the 20 tonsils were positive using the Bam W primers; another four showed this DNA with Bam HI primers. EBV DNA was detected in only one tumor (a lymphoblastic lymphoma) by both primer sets. The demonstration of EBV DNA in the tonsils reflects past infections and the incidence is in accordance with that expected from serologic epidemiologicl studies. The absence of demonstrable EBV DNA in 19 lymphomas suggests that this virus is of little consequence in the pathogenesis of non-Hodgkin's lymphomas in children who are not known to be immunocompromised. The lymphoblastic lymphoma had a mixed cell population, and the virus was not necessarily related to the malignancy.

Published
1995
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50. An Analysis of Lymph Node DNA for Possible Bacterial Agents of Cat-Scratch Disease

Author

Jevon, Gareth, Dunne, W. Michael, and Finegold, Milton

Abstract

Recent investigations have implicated Afipia felis and Rochalimaea henselae as possible agents of cat-scratch disease (CSD). We studied lymph nodes with necrotizing granulomas characteristic of CSD for A. felis and R. henselae DNA so that the relationship of these organisms to lymph nodes with necrotizing granulomas of unknown etiology might be better defined.We examined formalin-fixed, paraffin-embedded lymph node biopsies with necrotizing granulomas suggestive of CSD from 28 children obtained over the last 10 years. None had identifiable bacteria, fungi, or acid-fast organisms on routine staining. Pleomorphic bacillary structures consistent with the CSD bacillus were seen with the Steiner stain in 17 cases. We performed the polymerase chain reaction (PCR) on the extracted lymph node DNA with DNA primers for these organisms after demonstrating the presence of amplifiable DNA with c-K-Ras primers. R. henselae was identified in two samples. A. felis DNA was found in just one specimen.These putative CSD bacteria are infrequently associated with necrotizing granulomas using standard PCR techniques. It is possible that some of the patients did not have clinical CSD. The preservation of DNA or numbers of bacteria in the extracted sections may be inadequate for demonstration by DNA amplification methods. These bacilli may be responsible for a small proportion of these characteristic lesions of unknown etiology, or the typical CSD histology, including the presence of pleomorphic bacillary structures, may be nonspecific.

Published
1995
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