Activity

Iron deficiency anaemia is a common disorder in the paediatric age-group. The association between iron deficiency and venous thrombosis in children without an underlying illness is rare. Two cases are described. A 17-year-old girl had been taking oestrogen-progestogen therapy for contraception for about 2 years and developed a lower-limb deep vein thrombosis associated with pulmonary embolism. A 3-year-old girl was admitted to the paediatric emergency department with pallor, weakness and vomiting, and a cerebral CT showed a recent cerebral venous thrombosis. Both cases had severe iron-deficiency anaemia which increases a thrombotic tendency and could be a further crucial trigger of venous thrombosis in patients at low risk; therefore, in cases of unexplained thrombosis, it must always be considered to be a risk factor.Abbreviations APCR activated protein C resistance; CMV cytomegalovirus; CT computerised tomography; CVST cerebral venous sinus thrombosis; CVT cerebral venous thrombosis; DVT deep vein thrombosis; DOACs direct oral anticoagulants; EBV Epstein-Barr virus; ID iron deficiency; IDA iron deficiency anaemia; LMWH low molecular weight heparin; PE pulmonary embolism; RDW red blood cell distribution width; VT venous thrombosis.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.

In Denmark, fine needle aspiration is the standardized tool for obtaining tissue samples from lymph nodes (LN) of the neck. However, because of a low specificity toward lymphomas, LNs suspicious for this disease are often surgically removed and examined. International studies have implied that a core needle biopsy (CNB) is sufficient for detecting lymphomas, thereby potentially avoiding surgery. However, all studies have been conducted retrospectively and the goal of this prospective study was to find the true sensitivity of CNB.

Fifty-seven patients were enrolled in the study, one was excluded due to lack of CNB material. LNs suspected for lymphoma were surgically removed from the neck, whereafter a CNB was obtained from the removed LN. The CNB and the remaining part of the LN were sent to the Department of Pathology for further processing and the samples were blinded and examined by two pathologists separately. A consensus diagnosis was reached in cases with divergent diagnostic proposals. Sensitivity of the CNB method in comparison to whole tissue sections for lymphoma diagnosis was calculated.

The CNB method gave the correct diagnosis in 66% of lymphoma cases, was inconclusive in 14% and gave an incorrect lymphoma subtype in 18%. In 2% the CNB wrongly resulted in a benign diagnosis. CNB was correct in all the non-lymphoma cases; thereby retaining a specificity of 100%.

This prospective study found a sensitivity of 66% for diagnosing lymphoma with a CNB. As the CNB in this study was obtained under optimal conditions, unlike in clinical practice, we conclude that CNB cannot be recommended as a standard tool for diagnosing lymphomas.

This prospective study found a sensitivity of 66% for diagnosing lymphoma with a CNB. As the CNB in this study was obtained under optimal conditions, unlike in clinical practice, we conclude that CNB cannot be recommended as a standard tool for diagnosing lymphomas.Unintended pregnancy impacts many young women in South Africa, and rates of consistent contraceptive use among this population are suboptimal. Limited empirical work has investigated reasons for inconsistency between pregnancy intention and contraceptive use behaviour with data collected during pregnancy. We explored pregnancy intentions and discordance between intentions and contraceptive use prior to conception among young pregnant women in KwaZulu-Natal, South Africa. In-depth qualitative interviews were conducted with 35 women during pregnancy (mean age = 19.3; range = 18-21) in 2011 and 2012. Data were analysed using content analysis. All participants reported unintended pregnancies; almost half were not using contraception near conception. Reasons for not intending to become pregnant spanned personal, social, health, and economic domains. Participants living with HIV (n = 13) expressed specific concerns related to impacts of pregnancy on HIV disease management and fear of transmission of HIV to the infant. Discordance between pregnancy intentions and contraceptive use prior to conception was attributed to personal, social, health and structural domains. Semagacestat Findings indicate a need for interventions that address barriers to contraceptive use in order to minimise unintended pregnancy and support safe, desired pregnancies among young women.Corticotropin releasing hormone (CRH) neurons located in the nucleus of hippocampal commissure (NHpC) have been proposed to be involved in the avian neuroendocrine regulation of stress and appeared to respond prior to CRH neurons in the hypothalamic paraventricular nucleus (PVN) when food deprivation stress was applied. Since the response of the NHpC was rapid and short-lived, was it regulated differentially from CRH neurons in the PVN? We, therefore, applied immobilization stress to test whether the NHpC response was stressor specific. Gene expression of CRH and stress-related genes in the NHpC, PVN, anterior pituitary (APit) as well as plasma corticosterone (CORT) were determined. Furthermore, brain derived neurotrophic factor (BDNF) and glucocorticoid receptor (GR) were examined regarding their possible roles in the regulation of CRH neurons. Data showed that rapid activation of CRH mRNA in the NHpC occurred and preceded a slower gene activation in the PVN, upregulation of proopiomelanocortin (POMC) transcripts in the APit and significant increases of CORT concentrations.