Demographic, clinical and laboratory differences between paediatric acute COVID-19 and PIMS-TS-results from a single centre study in the UK.

BackgroundPaediatric symptomatic SARS-CoV-2 infections associate with two presentations, acute COVID-19 and paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS). Phenotypic comparisons, and reports on predictive markers for disease courses are sparse and preliminary.MethodsA chart review of COVID-19 and PIMS-TS patients (≤19 years) admitted to Alder Hey Children's NHS Foundation Trust, a tertiary centre in the North-West of England, was performed (02/2020-09/2022).ResultsA total of 161 symptomatic COVID-19 and 50 PIMS-TS patients were included. Peaks in admissions of patients with PIMS-TS occurred approximately 4 weeks after those for acute COVID-19. The incidence of in-patients with PIMS-TS reduced over time, and there were no admissions after February 2022. When compared to acute COVID-19, PIMS-TS patients were older (median: 10.3 years vs. 2.03 years; p p = 0.01). Pre-existing comorbidities were more common among acute COVID-19 patients (54.7% vs. 8%, p p ≤ 0.01) when compared with acute COVID-19, where respiratory symptoms were more common (51.6% vs. 32%, p = 0.016). PIMS-TS more frequently required intensive care admission (64% vs. 16.8%), and inotropic support (64% vs. 9.3%) (all p p ConclusionAdmissions for PIMS-TS reduced with increasing seroconversion rates in the region. Young age and pre-existing comorbidities associate with hospital admission for acute COVID-19. While PIMS-TS may present more acutely with increased need for intensive care, acute COVID-19 had an increased risk of mortality in this cohort

There is no significant correlation of adenomyosis with benign, premalignant and malignant gynecological pathologies. Retrospective study on 647 specimens

Objectives: The aim of this study is to identify the prevalence of benign, premalignant and malignant gynecological pathologies in women with adenomyosis who underwent gynecological surgery. Material and methods: The medical records collected between 1985 and 2020 were retrospectively reviewed. The pathology reports were studied from 647 cases where adenomyosis was presented. The estimated prevalence of benign, premalignant and malignant gynecological disorders in the general population was further evaluated. Results: The mean age of women with adenomyosis was 54.1 ± 10.4 years old. Out of 647 patients, in 18.5% of the specimens we detected isolated adenomyosis and in 81.5% of cases a coexistence of one or more gynecological diseases, while in 84 out of 647 patients (13%) there was coexistence of adenomyosis with more than one gynecological condition (benign or malignancy). Among all cases, uterine leiomyomas were observed in 61.3% of patients, followed by endometrial polyps (11.9%), endometriosis (11.6%), endometrial hyperplasia (7.1%), endometrial cancer (3.6%), ovarian (1.4%) and cervical cancer (0.8%) (p < 0.001).Additionally, we found that women with a simultaneous co-existence of adenomyosis, leiomyomas and endometrial polyps or hyperplasia were younger (p < 0.01) in comparison to cases with malignancy. Conclusions: Adenomyosis presents a common benign but often progressing myometrial condition that it is underestimated in clinical practice. Even though some studies suggest a potential association with several gynecological pathologies, we did not confirm a significant difference of adenomyosis prevalence between benign, premalignant and malignant gynecological conditions compared with the general population. Further investigation is required to confirm our results

Demographic, clinical and laboratory differences between paediatric acute COVID-19 and PIMS-TS—results from a single centre study in the UK

BackgroundPaediatric symptomatic SARS-CoV-2 infections associate with two presentations, acute COVID-19 and paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS). Phenotypic comparisons, and reports on predictive markers for disease courses are sparse and preliminary.MethodsA chart review of COVID-19 and PIMS-TS patients (≤19 years) admitted to Alder Hey Children's NHS Foundation Trust, a tertiary centre in the North-West of England, was performed (02/2020–09/2022).ResultsA total of 161 symptomatic COVID-19 and 50 PIMS-TS patients were included. Peaks in admissions of patients with PIMS-TS occurred approximately 4 weeks after those for acute COVID-19. The incidence of in-patients with PIMS-TS reduced over time, and there were no admissions after February 2022. When compared to acute COVID-19, PIMS-TS patients were older (median: 10.3 years vs. 2.03 years; p < 0.001). There were no differences in gender distribution, but minority ethnicities were over-represented among PIMS-TS patients. Regional ethnic distribution was reflected among acute COVID-19 patients (66% vs. 84.5% White Caucasian, p = 0.01). Pre-existing comorbidities were more common among acute COVID-19 patients (54.7% vs. 8%, p < 0.001). PIMS-TS patients more commonly presented with abdominal symptoms (92% vs. 50.3%), neurological symptoms (28% vs. 10.6%) and skin rashes (72% vs. 16.8%), (p ≤ 0.01) when compared with acute COVID-19, where respiratory symptoms were more common (51.6% vs. 32%, p = 0.016). PIMS-TS more frequently required intensive care admission (64% vs. 16.8%), and inotropic support (64% vs. 9.3%) (all p < 0.05). More deaths occurred among acute COVID-19 patients [0 vs. 7 (4.4%)], with 5/7 (71%) in the context of pre-existing comorbidities. When compared to acute COVID-19, PIMS-TS patients exhibited more lymphopenia and thrombocytopenia, a more pronounced acute phase reaction, and more hyponatraemia (p < 0.05). Partial least square discriminant analysis of routine laboratory parameters allowed (incomplete) separation of patients at diagnosis, and variable importance projection (VIP) scoring revealed elevated CRP and low platelets as the most discriminatory parameters.ConclusionAdmissions for PIMS-TS reduced with increasing seroconversion rates in the region. Young age and pre-existing comorbidities associate with hospital admission for acute COVID-19. While PIMS-TS may present more acutely with increased need for intensive care, acute COVID-19 had an increased risk of mortality in this cohort

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. Effect sizes were largest for stage 3/4 disease, driven by ovarian endometriosis. Identified signals explained up to 5.01% of disease variance and regulated expression or methylation of genes in endometrium and blood, many of which were associated with pain perception/maintenance (SRP14/BMF, GDAP1, MLLT10, BSN and NGF). We observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), as well as inflammatory conditions, including asthma and osteoarthritis. Multitrait genetic analyses identified substantial sharing of variants associated with endometriosis and MCP/migraine. Targeted investigations of genetically regulated mechanisms shared between endometriosis and other pain conditions are needed to aid the development of new treatments and facilitate early symptomatic intervention

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. Effect sizes were largest for stage 3/4 disease, driven by ovarian endometriosis. Identified signals explained up to 5.01% of disease variance and regulated expression or methylation of genes in endometrium and blood, many of which were associated with pain perception/maintenance (SRP14/BMF, GDAP1, MLLT10, BSN and NGF). We observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), as well as inflammatory conditions, including asthma and osteoarthritis. Multitrait genetic analyses identified substantial sharing of variants associated with endometriosis and MCP/migraine. Targeted investigations of genetically regulated mechanisms shared between endometriosis and other pain conditions are needed to aid the development of new treatments and facilitate early symptomatic intervention

A modern genetic analysis of endometriosis in the Greek population

INTRODUCTIONEndometriosis is a benign gynecologic disorder, affecting up to 10% of the women, characterized by the presence of functional endometrial tissue at ectopic positions generally within the peritoneum. It is a heritable condition influenced by multiple genetic and environmental factors, but there are populations or racial differences for endometriosis both in terms of genetic susceptibility and disease manifestations. AIM OF THE STUDYStudy question: Are single nucleotide polymorphisms (SNPs) rs7521902, rs10859871 and rs11031006, mapping to WNT4, VEZT and FSHB genetic loci, respectively, associated with risk for endometriosis in the Greek population? Moreover, the aim of the present study was to evaluate the association of two IL 16 gene single nucleotide polymorphisms (SNPs), rs4072111 and rs11556218, with the risk of endometriosis in women from Greece as well as to gain insight about the structural consequences of these two exonic SNPs regarding development of the disease.SUBJECTS AND METHODSIn this case-control association study, 316 women of Greek origin were enrolled, including 166 women with histological confirmed endometriosis diagnosed through surgery and 150 normal controls. Whole blood was collected pre operatively and genomic DNA was isolated from peripheral blood leukocytes by using a commercial kit. Genotyping of the rs7521902, rs10859871 and rs11031006 SNPs was performed with Taqman primer/probe sets, by using Real-Time PCR System. As far as IL-16 polymorphism is concerned, subjects were genotyped using a polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) strategy.RESULTSA significant association was detected with the AC genotype of rs7521902 (WNT4) in patients with stage III/IV of disease only (P=0.036, OR=1.96, 95% CI 1.05-3.65). Evidence for association with endometriosis was also found for the AC genotype of the rs10859871 of VEZT (P=0.01, OR=0.39, 95% CI 0.19-0.81). Notably, a significant difference in the distribution of the AG genotype as well as the minor allele A of FSHB rs11031006 SNP was found between the endometriosis patients and controls (P=0.044, OR=0.55, 95% CI 0.31-0.98 and P=0.032, OR=0.55, 95% CI 0.32-0.95 for AG and A, respectively). A significant association was detected regarding the GG and GT genotype as well as 'G' allele of rs11556218 in patients with endometriosis. The rs4072111 SNP of the IL 16 gene was not found to be associated with an increased susceptibility to endometriosis CONCLUSIONSA genetic association between rs7521902 (WNT4) SNP and advanced endometriosis was found at genotypic level. Our results demonstrated that rs11556218 of IL 16 is associated with endometriosis in Greek women, probably by resulting in the aberrant expression of IL 16, as suggested by the bioinformatics analysis conducted on the SNP derived protein sequences, which indicated a possible association between mutation and functional modification of Pro IL 16.Η ενδομητρίωση είναι μια καλοήθης γυναικολογική διαταραχή που επηρεάζει έως και το 10% των γυναικών και χαρακτηρίζεται από την παρουσία λειτουργικού ενδομήτριου ιστού σε έκτοπες θέσεις γενικά εντός του περιτοναίου. Πρόκειται για κληρονομική κατάσταση που επηρεάζεται από πολλαπλούς γενετικούς και περιβαλλοντικούς παράγοντες, ενώ υπάρχουν πληθυσμιακές/φυλετικές διαφορές αναφορικά με την ύπαρξη γενετικής συσχέτισης τόσον όσο αφορά την εκδήλωση της ασθένειας όσο και τη βαρύτητα αυτής (στάδια Ι-IV). ΣΤΟΧΟΣ Στόχος της παρούσας μελέτης ήταν η αποκάλυψη πιθανής γενετικής συσχέτισης μεταξύ γενετικών πολυμορφισμών των γονιδίων WNT4, VEZT, FSHB και IL-16 και του κινδύνου ενδομητρίωσης σε γυναίκες από την Ελλάδα, καθώς και η προσέγγιση της λειτουργικής σημασίας κάποιων εξ αυτών των πολυμορφισμών αναφορικά με την ανάπτυξη της ενδομητρίωσης. ΑΣΘΕΝΕΙΣ ΚΑΙ ΜΕΘΟΔΟΙΣε αυτή την μελέτη γενετικής συσχέτισης συμμετείχαν 316 γυναίκες Ελληνικής καταγωγής, εκ των οποίων 166 γυναίκες με ιστολογικά επιβεβαιωμένη ενδομητρίωση και 150 υγιείς μάρτυρες. Έγινε αρχικά λήψη ολικού περιφερικού αίματος και απομονώθηκε γονιδιωματικό DNA από τα λευκοκύτταρα με τη χρήση κατάλληλου εργοστασιακού Kit εξαγωγής DNA. Η γονοτύπηση των πολυμορφισμών rs7521902, rs10859871 και rs11031006 πραγματοποιήθηκε με τη χρήση των εξελιγμένων Taqman genotyping Kits, κάνοντας χρήση μιας πλατφόρμας PCR πραγματικού χρόνου.Τέλος, η γονοτύπηση των δυο πολυμορφισμών του γονιδίου της IL-16 βασίστηκε στο συνδυασμό της αλυσιδωτής αντίδρασης της πολυμεράσης με ανάλυση των RFLPs (Restriction Fragment Length Polymorphisms).ΑΠΟΤΕΛΕΣΜΑΤΑΑποκαλύφθηκε σημαντική συσχέτιση μόνο με τον γονότυπο AC του πολυμορφισμού rs7521902 του γονιδίου WNT4 σε γυναίκες με ενδομητρίωση σταδίου III και IV (P = 0.036, OR=1.96, 95% CI 1.05-3.65). Ενδείξεις γενετικής συσχέτισης με την ενδομητρίωση βρέθηκαν επίσης για τον γονότυπο AC του πολυμορφισμού rs10859871 του VEZT (P=0.01, OR=0.39, 95% CI 0.19-0.81). Επιπλέον, διαπιστώθηκε σημαντική διαφορά στην κατανομή του γονότυπου AG και του ελάσσονος αλληλόμορφου Α του πολυμορφισμού rs11031006 του γονιδίου FSHB μεταξύ των ασθενών με ενδομητρίωση και των μαρτύρων. Στις ασθενείς με ενδομητρίωση αναδείχθηκε μια στατιστικά σημαντική συσχέτιση που αφορούσε τους γονότυπους GG και GT καθώς και το G αλληλόμορφο του πολυμορφισμού rs11556218 του γονιδίου IL-16. Ο πολυμορφισμός rs4072111 του γονιδίου IL-16 δεν βρέθηκε να συσχετίζεται με αυξημένη ευαισθησία στην ενδομητρίωση. Τα αποτελέσματά μας δείχνουν ότι στις Ελληνίδες ο πολυμορφισμός rs11556218 σχετίζεται με την ενδομητρίωση προφανώς λόγω της επακόλουθης, ανώμαλης έκφρασης της IL-16, όπως φαίνεται και από τη βιοπληροφορική ανάλυση που πραγματοποιήθηκε. Το γεγονός αυτό υποδεικνύει μια πιθανή συσχέτιση μεταξύ της μετάλλαξης και της λειτουργικής τροποποίησης στην προ-ιντερλευκίνη 16 (Pro-IL-16).ΣΥΜΠΕΡΑΣΜΑΤΑ Ο γονότυπος AC του γενετικού πολυμορφισμού rs7521902 του γονιδίου WNT4 συσχετίζεται με αυξημένο κίνδυνο εμφάνισης ενδομητρίωσης μόνο σε γυναίκες σταδίου III ή IV. Ο γενετικός πολυμορφισμός rs11556218 του γονιδίου IL-16 συσχετίζεται με αυξημένη προδιάθεση για την εμφάνιση ενδομητρίωσης σε γυναίκες από την Ελλάδα τόσο σε επίπεδο γονοτύπων όσων και αλληλομόρφων

Solitary Cecal Diverticulitis: An Unusual Cause of Acute Right Iliac Fossa Pain—A Case Report and Review of the Literature

Solitary cecal diverticulitis is a rare cause of acute abdominal pain in the Western world. Its clinical presentation, in most cases, mimics acute appendicitis. A 38-year-old Caucasian man presented with acute abdomen and clinical signs of acute appendicitis. Laparotomy was performed and revealed an inflammatory, solitary diverticulum of the cecum. A typical appendectomy was performed and a catheter was inserted for draining percutaneously the inflamed diverticulum of the cecum. The patient had an uneventful recovery and was discharged on the 4th postoperative day. This frequently misdiagnosed condition, in most cases, is being suspected and identified intraoperatively as acute appendicitis. The aim of this study is to review the available different surgical management options and to present an alternative therapeutic approach that may be valuable under specific circumstances

Keeping an Eye on Perimenopausal and Postmenopausal Endometriosis

Introduction: We aimed to describe and review the epidemiological aspect of the disease pattern of a series of perimenopausal and postmenopausal women with a histology confirmation of endometriosis. Material and Methods: We retrospectively examined the clinical records of 184 perimenopausal and 46 postmenopausal women with endometriosis. Data were collected and analyzed from 1100 patients’ charts with confirmed endometriosis and involved cases from two different geographical areas, New Haven (US) and Greece. The statistical methods included ×2 and the Mann-Whitney U test. In the perimenopausal group (age 45–54 years), there were 184 patients (16.7%) and the postmenopausal group (55–80 years) had 46 (4.2%). The average age of diagnosis was (49 ± 2.3) and (61.2 ± 5.1), respectively (p < 0.01). Results: Advanced endometriosis was more aggressive in the perimenopausal group (p < 0.05); in the same group, we observed a higher left-sided predisposition of endometriosis in comparison with the right side (p < 0.01). Endometrioma was the most common gynecological condition among patients with perimenopausal endometriosis in relation to the postmenopausal group (p < 0.001). Additionally, we found uterine leiomyomata more prominent in the perimenopausal group (p < 0.05). In contrast, adenomyosis was found higher in postmenopausal patients (p < 0.05); further, 24 cases with dry eye we observed. Conclusions: Postmenopausal endometriosis is an important underestimated condition. Although the reported situation is not common, various clinicopathological characteristics were observed in both groups. Clinicians should be aware that there is a correlation between endometriosis and endometriosis-associated ovarian cancer in perimenopausal and postmenopausal age

Role of FN1 and GREB1 gene polymorphisms in endometriosis

Endometriosis is a complex gynecological disorder, affecting up to 10% of women of childbearing age, characterized by the presence of functional endometrial tissue at ectopic positions generally within the peritoneum. It is a heritable condition influenced by multiple genetic, epigenetic and environmental factors, with an overall heritability estimated at approximately 50%. The aim of the present study was to evaluate the association of rs1250248 and rs11674184 single nucleotide polymorphisms (SNPs), mapping to fibronectin 1 (FN1) and growth regulation by estrogen in breast cancer 1 (GREB1) genetic loci, respectively, with the risk of endometriosis. A total of 166 women with endometriosis (stages I-IV) who were hospitalized for the condition, diagnosed by laparoscopic intervention and histologically confirmed, and 168 normal controls were recruited and genotyped. Genotyping of the rs1250248 and rs11674184 SNPs was performed with TaqMan primer/probe sets. A significant association was detected with the A allele, as well as the AA and AG genotypes of rs1250248 (FN1) in patients with endometriosis, as well as in patients with stage I and II of the disease only. The rs11674184 SNP of the GREB1 gene was not found to be associated with an increased susceptibility to endometriosis either for all patients (stages I-IV) or for subgroups of stage I and II or III and IV of the disease only. Our results demonstrated a genetic association between the rs1250248 (FN1) SNP and endometriosis at both the genotypic and allelic level. However, although rs11674184 of GREB1 constitutes one of the most consistently associated SNPs with endometriosis in European ancestry populations, it was not found to be associated with endometriosis in this study