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1.
Clin Infect Dis ; 75(1): e1176-e1179, 2022 08 24.
Article in English | MEDLINE | ID: mdl-35234854

ABSTRACT

We observed an increased frequency of massive perivillous fibrin deposition (MPFD) during the second coronavirus disease 2019 (COVID-19) pandemic wave dominated by the Alpha variant of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). MPFD associated with 100% reverse transcription polymerase chain reaction (RT-PCR) positivity for SARS-CoV-2 and detection by immunohistochemistry. The Alpha variant was identified in all placentas with MPFD that could be sequenced.


Subject(s)
COVID-19 , Pregnancy Complications, Infectious , Female , Fibrin/analysis , Humans , Placenta , Pregnancy , SARS-CoV-2
2.
Ophthalmic Genet ; 42(5): 604-611, 2021 10.
Article in English | MEDLINE | ID: mdl-34003079

ABSTRACT

Background: Retinoblastoma (Rb) is a childhood tumor of the developing retina where predisposition is caused by RB1 pathogenic variants. MYCN amplification (MYCNA) has been implicated in around 2% of sporadic unilateral Rb tumors with no detectable RB1 variants. We audited data from tumors collected between 1993 and 2019 to determine if this is the case for patients treated at Barts Health NHS Trust, and how often it occurred alongside RB1 variants. Materials and methods: Screening for MYCNA was carried out by Multiple Ligation Probe Analysis of tumor and blood samples collected for RB1 genetic screening. The cohort consisted of 149 tumors, of which 114 had matched blood samples. Results: 10/149 (6.7%) tumors were positive for MYCNA in a population containing a disproportionate number of cases negative for RB1 pathogenic variants. Of 65 unbiased tumors collected from 2014 to 2019, 2 (3.1%) had MYCNA. All MYCNA samples were from sporadic, unilateral patients and 3/10 (30%) had RB1 pathogenic variants. MYCNA was not detected in any blood sample. No MYCNA tumor had 6p gain which is usually a common alteration in Rbs. Conclusions:MYCNA occurs in a small fraction of Rbs and can occur in the presence of pathogenic RB1 variants. However, where it occurs alongside RB1 alterations, the age of onset appears to be later. MYCNA has yet to be seen as a heritable change. In sporadic cases with early diagnosis, Rbs with no RB1 pathogenic variant identified should be tested for MYCNA. Conversely, tumors with MYCNA should still be screened for RB1 pathogenic variants.


Subject(s)
Gene Amplification/genetics , N-Myc Proto-Oncogene Protein/genetics , Retinal Neoplasms/genetics , Retinoblastoma/genetics , Child , Child, Preschool , Exons , Female , Genetic Testing , Humans , Infant , Male , Nucleic Acid Amplification Techniques/methods , Retinal Neoplasms/pathology , Retinoblastoma/pathology , Retinoblastoma Binding Proteins/genetics , Ubiquitin-Protein Ligases/genetics
3.
Pediatr Dev Pathol ; 17(4): 271-7, 2014.
Article in English | MEDLINE | ID: mdl-24856661

ABSTRACT

The organ weights in cases of sudden infant death syndrome (SIDS) and undetermined deaths in previously healthy infants do not correspond to "the normal range" of organ weights in international standard charts for infants currently in use in some institutions. The aim of our study was to ascertain the organ weights of infants dying suddenly and unexpectedly in England and for whom a cause of death was not found, therefore falling under the category of SIDS or undetermined. We collated the organs weights from 2 institutions covering between them the South East and North of England including London, Yorkshire, and Derbyshire. The cases from The Royal London Hospital were autopsied between 1997 and 2013, and the cases from Sheffield Children's Hospital were autopsied between 2006 and 2013. There were 188 babies who had been born at term (62 female and 126 male) and 26 ex-premature babies (15 female and 11 male). Organs of male babies were slightly heavier than those of female babies but as there was no significant differences male and female babies were considered together. Comparison with standard charts (from 1932 and 1962) and with more recent charts confirmed the discrepancy between the older charts commonly in use with more recent measurements, including ours. The main reason for these differences is that babies in the recent charts were previously healthy babies with no long term disease and improved in the health of the population.


Subject(s)
Infant Mortality , Organ Size , Sudden Infant Death/pathology , Autopsy , Cause of Death , England/epidemiology , Female , Humans , Infant , Infant, Newborn , Male , Retrospective Studies , Risk Factors , Sex Factors , Sudden Infant Death/epidemiology
4.
Dig Dis Sci ; 54(1): 111-7, 2009 Jan.
Article in English | MEDLINE | ID: mdl-18594977

ABSTRACT

Most of the individuals infected with H. pylori acquire the infection early in life. However, there is limited data regarding endoscopic and histopathologic findings of H. pylori infection when it is acquired during infancy. The aim of this study was to investigate the H. pylori-related endoscopic and histopathological findings in children younger than 2 years of age. One hundred and fifty-two infants who underwent upper gastrointestinal endoscopy were included in the study. The diagnosis of H. pylori infection was based on histopathology and a positive rapid urease test. Forty of 152 (26.3%) infants were infected with H. pylori, and 65% of the infected infants had histopathologic gastritis. There were no clinical or endoscopic findings suggestive of H. pylori infection. No correlation could be found between the density of H. pylori and the severity of gastritis. H. pylori infection is associated with various degrees of gastritis in more than half of the infected infants. Since the likelihood of normal histopathology is rare in H. pylori-infected infants, its long-term complications should be cautiously followed up in endemic areas.


Subject(s)
Gastritis/microbiology , Gastritis/pathology , Helicobacter Infections/pathology , Helicobacter pylori/pathogenicity , Stomach/microbiology , Stomach/pathology , Biopsy , Duodenum/microbiology , Duodenum/pathology , Endoscopy, Gastrointestinal , Esophagus/microbiology , Esophagus/pathology , Female , Humans , Infant , Male , Multivariate Analysis , Retrospective Studies , Severity of Illness Index
5.
Turk J Pediatr ; 45(2): 123-8, 2003.
Article in English | MEDLINE | ID: mdl-12921298

ABSTRACT

Clinical trials for chronic hepatitis B (HBV) infection in children have shown usefulness of interferon alpha 2b (IFN-alpha) in eliminating HBV replication and in improving liver histology. Although it is not the ultimate goal of the interferon treatment for chronic HBV infection, it has been suggested in adults that HBsAg clearance decreases the likelihood of development of hepatocellular carcinoma, and prolongs the survival. HBV DNA clearance has been shown to be higher with higher doses of interferon in children, but it was rarely associated with HbsAg clearance. Ten MU/m2 was tried in 46 children who had biopsy-proven chronic HBV infection. They received IFN-alpha subcutaneously three times/week for six months. The treatment regimen was completed in 41 children and the second liver hiopsy was carried out one year after the end of the treatment in 30 of 41 patients. With this schedule, 15 (36.6%) children showed persistent loss of HBV DNA 12 months after the cessation of the treatment, 20 (48.7%) lost HBeAg, and eight (19.5%) developed anti-HBs antibody with loss of HBsAg. A significant improvement in liver histology was obtained in children with HBV DNA clearance. Serum ALT levels normalized in all HBeAg seroconverters. These findings suggested that the 10 MU/m2 IFN-alpha treatment was well tolerated and resulted in a high rate of HbsAg clearance in addition to HBV DNA clearance in a group of chidren with chronic HBV infection.


Subject(s)
Hepatitis B Surface Antigens/blood , Hepatitis B, Chronic/drug therapy , Interferon-alpha/therapeutic use , Adolescent , Child , Child, Preschool , Dose-Response Relationship, Drug , Female , Hepatitis B virus/drug effects , Hepatitis B, Chronic/immunology , Humans , Interferon-alpha/adverse effects , Male , Treatment Outcome
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