Gastric IgG4-related disease mimicking a gastrointestinal stromal tumor in a child: A case report

BACKGROUND Gastric IgG4-related disease(IgG4-RD)is rarely encountered in clinical practice,and especially more so among pediatric patients.To our knowledge,this is the first report of IgG4-RD presenting as a calcifying gastric mass in a child.We describe how this entity was difficult to differentiate from a gastrointestinal stromal tumor(GIST)imaging-based approaches.Therefore,this case highlights the importance of considering IgG4-RD in the differential diagnosis of gastric tumor before performing surgical resection,especially to distinguish it from malignancy to avoid unnecessary surgery.CASE SUMMARY The patient suffered from epigastric pain for several days.Panendoscopy and computed tomography scan revealed a submucosal tumor.Differential diagnoses included GIST,leiomyoma,teratoma,and mucinous adenocarcinoma.However,laparoscopic proximal gastrectomy allowed for the definitive diagnosis of IgG4-related stomach disease.CONCLUSION We emphasize the importance of considering IgG4-RD in the differential diagnosis of gastric submucosal tumors before performing surgical resection.

Small intestine angioleiomyoma as a rare cause of perforation:A case report

BACKGROUND Angioleiomyoma is a rare and benign stromal tumor typically found in subcutaneous tissue.It rarely occurs in the gastrointestinal tract.Among the reported cases,the most common complication was gastrointestinal bleeding.Perforation has only been reported as a complication in the last few decades.CASE SUMMARY This case report detailed the discovery of intestinal angioleiomyoma in a 47-yearold male presenting with abdominal pain that had persisted for 3 d.After suspecting hollow organ perforation,surgical intervention involving intestinal resection and anastomosis was performed.CONCLUSION The report underscores the significance of early surgical intervention in effectively treating angioleiomyoma while emphasizing the pivotal role of timely and appropriate measures for favorable outcomes.

Should we perform sigmoidoscopy for colorectal cancer screening in people under 45 years?

BACKGROUND The strategy for preventing colorectal cancer is screening by colonoscopy,which offers a direct way for detection and removal of adenomatous polyps(APs).American College of Gastroenterology guidelines recommend that people aged≥45 years should undergo colonoscopy;however,how to deal with people aged≤45 years is still unknown.AIM To compare the prevalence of APs and high-grade neoplasia between the left and right colon in patients≤45 years.METHODS A retrospective observational study was conducted at a single tertiary III hospital in China.This study included patients aged 18-45 years with undergoing initial colonoscopy dissection and pathological diagnosis AP or high-grade neoplasia between February 2014 and January 2021.The number of APs in the entire colon while screening and post-polypectomy surveillance in following 1-3 years were evaluated.RESULTS A total of 3053 cases were included.The prevalence of APs in the left and right colon was 55.0%and 41.6%,respectively(OR 1.7,95%CI 1.6-2.4;P<0.05).For APs with high-grade neoplasia,the prevalence was 2.7%and 0.9%,respectively(OR 3.0,95%CI 2.0-4.6;P<0.05).Therefore,the prevalence of APs and high-grade neoplasia in the left colon was significantly higher than in the right colon in patients aged≤45 years.There were 327 patients who voluntarily participated in post-polypectomy surveillance in following 1-3 years,and APs were found in 216 cases(66.1%);170 cases had 1-3 polyps(52.0%)and 46 cases had>3 polyps(14.1%;OR 0.3,95%CI 0.1-0.6;P<0.05).CONCLUSION This study suggests that flexible sigmoidoscopy would be an optimal approach for initial screening in people aged≤45 years and would be a more cost-effective and safe strategy.

Assessment and Visualization of Ki67 Heterogeneity in Breast Cancers through Digital Image Analysis

The Ki67 index (KI) is a standard clinical marker for tumor proliferation;however, its application is hindered by intratumoral heterogeneity. In this study, we used digital image analysis to comprehensively analyze Ki67 heterogeneity and distribution patterns in breast carcinoma. Using Smart Pathology software, we digitized and analyzed 42 excised breast carcinoma Ki67 slides. Boxplots, histograms, and heat maps were generated to illustrate the KI distribution. We found that 30% of cases (13/42) exhibited discrepancies between global and hotspot KI when using a 14% KI threshold for classification. Patients with higher global or hotspot KI values displayed greater heterogenicity. Ki67 distribution patterns were categorized as randomly distributed (52%, 22/42), peripheral (43%, 18/42), and centered (5%, 2/42). Our sampling simulator indicated analyzing more than 10 high-power fields was typically required to accurately estimate global KI, with sampling size being correlated with heterogeneity. In conclusion, using digital image analysis in whole-slide images allows for comprehensive Ki67 profile assessment, shedding light on heterogeneity and distribution patterns. This spatial information can facilitate KI surveys of breast cancer and other malignancies.

Colon Adenocarcinoma in a Retrograde Intussusception: A Case Report and Literature Review

Background: Intussusception is defined as a telescoping of a proximal gastrointestinal segment with its mesentery to a distal one, only 5% occur in adults and in colon the probability that it is caused by a malignant disease is up to 65%. Only 1% occurs in a retrograde manner, the rest occur in an anterograde manner. Aim: Describe the clinical presentation of an intussusception in the adult patient as well as its most frequent causes and possible complications that influence decision making for a definitive treatment. Case Presentation: A 66-year-old woman diagnosed with colon adenocarcinoma who underwent elective transverse colectomy and colonic anastomosis with an incidental finding of a transverse colon tumor in a retrograde intussusception was studied. Conclusion: In any adult patient with an intussusception especially in colon a neoplasia should be suspected and the affected segment should be resected without being reduced due to the risk of perforation and tumor dissemination.

A novel saliva-based miRNA profile to diagnose and predict oral cancer

Oral cancer (OC) is the most common form of head and neck cancer. Despite the high incidence and unfavourable patient outcomes, currently, there are no biomarkers for the early detection of OC. This study aims to discover, develop, and validate a novel saliva-based microRNA signature for early diagnosis and prediction of OC risk in oral potentially malignant disorders (OPMD).The Cancer Genome Atlas (TCGA) miRNA sequencing data and small RNA sequencing data of saliva samples were used to discover differentially expressed miRNAs. Identified miRNAs were validated in saliva samples of OC (n=50), OPMD (n=52), and controls(n=60) using quantitative real-time PCR. Eight differentially expressed miRNAs (miR-7-5p, miR-10b-5p, miR-182-5p, miR-215-5p,miR-431-5p, miR-486-3p, miR-3614-5p, and miR-4707-3p) were identified in the discovery phase and were validated. The efficiency of our eight-miRNA signature to discriminate OC and controls was:area under curve (AUC):0.954, sensitivity:86%, specificity:90%,positive predictive value (PPV):87.8%and negative predictive value (NPV):88.5%whereas between OC and OPMD was:AUC:0.911,sensitivity:90%, specificity:82.7%, PPV:74.2%and NPV:89.6%. We have developed a risk probability score to predict the presence or risk of OC in OPMD patients. We established a salivary miRNA signature that can aid in diagnosing and predicting OC,revolutionising the management of patients with OPMD. Together, our results shed new light on the management of OC by salivary miRNAs to the clinical utility of using miRNAs derived from saliva samples.

Intraductal Prostatic Carcinoma: Epidemiological and Anatomopathological Aspects in Dakar

Introduction: Intraductal carcinoma is often associated with high-grade, high-stage adenocarcinoma. Its frequency is variable and it is considered a poor prognostic factor. In our context, when prostatic carcinoma is diagnosed, pathologists do not always report the presence of this anatomopathological entity. We therefore conducted a study to determine the epidemiological and anatomopathological profile of patients with this lesion in Dakar. Materials and Methods: This is a retrospective descriptive study covering a 1-year period from January to December 2022. It focused on cases of intraductal carcinoma diagnosed among prostatic carcinomas collected in the anatomopathology laboratories of Hôpital Général Idrissa Pouye (HOGIP) and Hôpital Militaire de Ouakam (HMO). It was based on archives of anatomopathological reports, blocks and slides. A total of 200 cases of prostatic carcinoma were collated and reviewed to identify those presenting with intraductal carcinoma according to the diagnostic criteria of Guo and Epstein. Results: 87 cases of intraductal carcinoma were found, representing 43.5% of prostatic carcinomas. The mean age was 71 years. Patients in their seventh decade were the most represented, i.e. 42.5%. The majority of samples examined were biopsies (72.4%). The mean PSA level was 965.91 ng/ml, with extremes ranging from 0.03 to 10,000 ng/ml. Histologically, 96.5% of cases (N = 84) were invasive prostatic carcinoma. Gleason score 8 (4 + 4) was the most common, accounting for 42.53% (N = 37). On average, the study found four (04) foci of intraductal carcinoma per specimen, with extremes ranging from 1 to 30. Dense cribriform architecture accounted for 78.16%, loose cribriform for 11.5%, solid for 8.04% and micropapillary for 2.3%. Six cases (6.9%) showed foci of comedonecrosis. The vast majority of radical prostatectomies (87.5%) were classified as pT3. Node invasion and perineural sheathing were observed in 12.5% and 52.32% of cases respectively. Conclusion: Intraductal carcinoma is a poor prognostic factor that must be systematically reported in the anatomopathological report. In Senegal, it is often associated with advanced stage, high-grade carcinoma and high PSA levels.

Predictors of Malignant Pathology and the Role of Trans-Thoracic Needle Biopsy in Management of Solitary Fibrous Tumors of the Pleura: A 30-Year Review of a Tertiary Care Center Patient Cohort

Background: Solitary fibrous tumors of the pleura (SFTP) are rare neoplasms with unpredictable behavior. Lack of unifying criteria for benign or malignant SFTP has resulted in reports of SFTP exhibiting malignant behavior years after complete surgical resection (despite benign initial diagnosis). Additionally, the role of trans-thoracic needle biopsy in initial management of SFTP is unclear. Understanding predictors of malignancy identifies patients at unacceptably high risk for non-surgical primary therapy, and for recurrence despite complete surgical resection. Objectives: The primary objectives were to identify clinicopathological predictors of malignancy & recurrence in SFTP. The secondary aim was to determine the role of trans-thoracic needle biopsy in the management decision algorithm of SFTP. Methods: Retrospective chart review was conducted (Jan. 1983-Dec. 2013) at the Ottawa Hospital for pathologically confirmed SFTP. Data were collected on biopsy-related, clinical, histopathological & immunohistochemistry (IHC) variables. Appropriate tests of statistical inference were conducted for all variables. Results: Pathologically confirmed SFTP was identified in 26 cases. Transthoracic needle biopsy was conducted in 22 (84.6%);with 16 (72.7%) biopsies diagnostic of SFTP with IHC;3 (13.6%) being malignant. Primary management was surveillance in 3 and complete surgical resection in 23. Surgical pathology reported 15 (65.2%) benign and 8 (34.8%) malignant cases. Local recurrence occurred in 3 and distant recurrence in 1. Initial pathology was benign in 3 (75%) with recurrence. Clinicopathologic variables analyzed did not predict recurrent disease. IHC features did not differ between malignant & benign pathology significantly. Predictors of malignant pathology included: infiltrative cellular pattern (p = 0.042), nuclear crowding (p = 0.006), tumour necrosis (p 4 mitoses/ 10 high power field (p Conclusion: Because numerous variables analyzed did not predict recurrent disease, long-term follow-up is warranted regardless of benign or malignant initial histology. Histologic not IHC features predicted malignant pathology. Trans-thoracic needle biopsy did identify malignant SFTP;however its main use should be to differentiate SFTP from other pleural neoplasms using IHC.

Microbiota revolution:How gut microbes regulate our lives

The human intestine is a natural environment ecosystem of a complex of diversified and dynamic microorganisms,determined through a process of competition and natural selection during life.Those intestinal microorganisms called microbiota and are involved in a variety of mechanisms of the organism,they interact with the host and therefore are in contact with the organs of the various systems.However,they play a crucial role in maintaining host homeostasis,also influencing its behaviour.Thus,microorganisms perform a series of biological functions important for human well-being.The host provides the microorganisms with the environment and nutrients,simultaneously drawing many benefits such as their contribution to metabolic,trophic,immunological,and other functions.For these reasons it has been reported that its quantitative and qualitative composition can play a protective or harmful role on the host health.Therefore,a dysbiosis can lead to an association of unfavourable factors which lead to a dysregulation of the physiological processes of homeostasis.Thus,it has previously noted that the gut microbiota can participate in the pathogenesis of autoimmune diseases,chronic intestinal inflammation,diabetes mellitus,obesity and atherosclerosis,neurological disorders(e.g.,neurological diseases,autism,etc.)colorectal cancer,and more.

Helicobacter Pylori Infection: Epidemiological, Clinical and Endoscopic Aspects in Brazzaville

Introduction: Helicobacter pylori infection is a real health problem worldwide. It is the most common chronic bacterial infection in the world, and is particularly prevalent in developing countries. Objective: To determine the frequency of Helicobacter pylori infection and to study the epidemiological, clinical and endoscopic characteristics associated with this infection in Brazzaville. Patients and Methods: This was a descriptive cross-sectional study conducted from January to November 2020, i.e. 11 months. This work focused on 100 symptomatic patients over 18 years old referred for upper GI endoscopy. Gastric biopsies for biological study by urease test and molecular study by real time PCR technique were taken. Results: With a mean age of 46.32 ± 15.20 years, the frequency of Hp infection was 91%, with a female predominance of 53%. The sex ratio was 0.92. The average age was 46.32 ± 15.20 years. Carriage of the infection was more important in households with more than 3 persons, in patients consuming public tap water and in those using both types of sanitary facilities. Endoscopy was indicated for epigastralgia in 93.1% of cases. About 56.14% of the infected patients had normal mucosa versus 12.28% with ulcerated lesions and 22.81% with gastritis. Conclusion: The prevalence of Helicobacter pylori infection is significant in Congo, justifying early detection in order to improve management.

Isolated IgG4-associated autoimmune hepatitis or the first manifestation of IgG4-related disease?

To the Editor:Immunoglobulin G4(IgG4)-associated autoimmune hepatitis(IgG4-AIH)is a novel and rare disease entity,characterized by sig-nificant infiltration of IgG4-expressing plasma cells in the liver.The classification of of IgG4-AIH as a subtype of AIH or an early manifestation of IgG4-related disease(IgG4-RD)remains controversial.Herein,we discuss an interesting clinical vignette of IgG4-AIH in a gentleman with no significant past medical history,who presented with undifferentiated symptoms and elevated aminotransferases.

Indium chloride bone marrow scintigraphy for hepatic myelolipoma: A case report

BACKGROUND As hepatic myelolipoma is rarely encountered,its radiological diagnosis using ultrasonography(US),computed tomography(CT),and magnetic resonance imaging(MRI)is challenging.Hepatic myelolipoma is similar to fat-contained hepatic lesions seen in hepatocellular carcinoma and angiomyolipoma.Therefore,further development of techniques to diagnose hepatic myelolipoma is warranted.CASE SUMMARY A 44-year-old obese man was found to have a hepatic lesion during his medical checkup.The lesion was 50 mm×57 mm in size and was detected in segment 8(S8)of the liver by US.The patient was diagnosed with hepatic lesion 20 years ago,but it was left unresolved.The patient had no symptoms,liver dysfunction,hepatitis virus antibody,or tumor marker elevation.Plain CT showed a welldefined lesion in S8 of the liver.The central and peripheral areas of the lesion primarily exhibited fat density and hypodensity,respectively.MRI revealed a capsule-like structure.Biopsy was performed to address the probability of hepatocellular carcinoma.The lesion was pathologically confirmed as a myelolipoma.Bone marrow scintigraphy performed using 111InCl3 revealed accumulation of the radiopharmaceutical in the soft tissue component,except in the fat-dominant part of the tumor,as well as in the surrounding liver parenchyma due to the presence of reticuloendothelial cells in the liver.CONCLUSION This is the first report on the diagnosis of hepatic myelolipoma using 111InCl3 scintigraphy.The effectiveness of bone marrow scintigraphy for diagnosing hepatic myelolipoma might be limited.As radiopharmaceuticals accumulate in both hematopoietic and reticuloendothelial cells,the accumulation of radiopharmaceuticals in the lesion is obscure.

Integration of molecular testing for the personalized management of patients with diffuse large B-cell lymphoma and follicular lymphoma

Diffuse large B-cell lymphoma(DLBCL)and follicular lymphoma(FL)are the most common forms of aggressive and indolent lymphoma,respectively.The majority of patients are cured by standard R-CHOP immunochemotherapy,but 30%–40%of DLBCL and 20%of FL patients relapse or are refractory(R/R).DLBCL and FL are phenotypically and genetically hereterogenous B-cell neoplasms.To date,the diagnosis of DLBCL and FL has been based on morphology,immunophenotyping and cytogenetics.However,next-generation sequencing(NGS)is widening our understanding of the genetic basis of the B-cell lymphomas.In this review we will discuss how integrating the NGS-based characterization of somatic gene mutations with diagnostic or prognostic value in DLBCL and FL could help refine B-cell lymphoma classification as part of a multidisciplinary pathology work-up.We will also discuss how molecular testing can identify candidates for clinical trials with targeted therapies and help predict therapeutic outcome to currently available treatments,including chimeric antigen receptor T-cell,as well as explore the application of circulating cell-free DNA,a non-invasive method for patient monitoring.We conclude that molecular analyses can drive improvements in patient outcomes due to an increased understanding of the different pathogenic pathways affected by each DLBCL subtype and indolent FL vs R/R FL.

Anti-inflammatory effects of Solanum procumbens on a low dose complete Freund's adjuvant-induced arthritis rat model

Objective:To investigate the anti-inflammatory and analgesic effects of Solanum procumbens on complete Freund’s adjuvantinduced arthritis rat models.Methods:We isolated and identified five compounds in the ethanolsoluble Solanum procumbens extract(SP)with anti-inflammatory effects,including ursolic acid,β-sitosterol,hexadecanoic acid,cisvaccenic acid,and vanillic acid.Additionally,we investigated the anti-inflammatory effects of SP on rheumatoid arthritis symptoms,including paw volumes,local temperatures,withdrawal latency,and mechanical withdrawal threshold at the hind paw and white blood cell(WBC)number from complete Freund’s adjuvant-induced arthritis rat models.Results:We have successfully established a complete Freund’s adjuvant-induced arthritis rat model at a low dose(1 mg/mL).SP extract significantly reduced paw volumes(P<0.05),prolonged withdrawal latencies(P<0.05),decreased local temperature,and increased the mechanical withdrawal threshold(P<0.05),but only SP extract at the dose of 300 mg/kg significantly decreased WBC numbers.Conclusions:SP extract could be a potential medication candidate with anti-inflammatory effects for arthritis,but it requires further investigation into the mechanism of the SP and its effectiveness on other models as well as clinical trials.

Genomic Instability Is a Mechanism for Diminished Male Fertility Following Chronic Dichlorvos Exposure

Background and Objectives: Chronic low-dose exposure to dichlorvos occurs in communities in Africa where the substance is used indiscriminately for a variety of purposes. This experiment used an animal model to evaluate genomic instability induced by this pattern of chronic exposure and its relationship with some measures of fertility in males. Methods: Seventy-five male Rattus norvegicus rats obtained for this experiment, were randomly allotted into five groups. Dichlorvos was given by oral gavage at doses of 0.28 mg/kg, 0.56 mg/kg and, 1.68 mg/kg, respectively, to three of the groups, on alternate days for 50 weeks. The remaining two groups received plain drinking water and cyclophosphamide as negative and positive controls, respectively. Samples were collected at 17, 34, and 50 weeks. Sperm count, sperm morphology and serum levels of follicle-stimulating hormone, luteinizing hormone, dihydrotestosterone, oestrogen and progesterone were determined. Furthermore, the frequency of micronucleated polychromatic erythrocytes was determined in bone marrow cells obtained from the femur. Results: The mean ranks of micronuclei frequency had an increasing trend. The frequency of micronucleated polychromatic erythrocytes (MnPCE) had a significant negative correlation with oestrogen (rs = -0.47, p = 0.00, n = 50), follicle-stimulating hormone (rs = -0.41, p = 0.00, n = 50) and progesterone (rs = -0.37, p = 0.01, n = 50) serum levels. A positive monotonic relationship also existed between micronuclei frequency and those of tubular necrosis, tubular vacuolation, and residual bodies. A positive significant moderate correlation was found between MnPCE and the proportion of immotile sperms (rs = 0.41, p = 0.00, n = 50). Conclusion: The nature of the correlations between micronuclei frequency and the proportion of immotile sperms, adverse histological changes and serum hormone levels found in this study suggest genomic instability as the possible mechanism for diminished fertility in males chronically exposed to dichlorvos.

Knowledge and attitudes towards the use of histological assessments in ulcerative colitis by gastroenterologists vs pathologists

BACKGROUND Histological remission is increasingly accepted as a treatment endpoint in the management of ulcerative colitis(UC).However,the knowledge of histology guidelines and the attitudes towards their use in clinical practice by gastroenterologists and pathologists is unknown.AIM To evaluate the knowledge of histology guidelines and attitudes towards the use of histology in UC by gastroenterologists and pathologists.METHODS A prospective,cross-sectional nationwide survey of gastroenterologists and pathologists who analyse UC specimens was conducted.The survey consisted of 34 questions to assess gastroenterologists’and pathologists’knowledge(score out of 19)and attitudes towards histological assessment in UC.Survey questions were formulated using the European Crohn’s and Colitis position paper on histopathology and the British Society of Gastroenterology biopsy reporting guidelines.It included knowledge of histological assessment of disease activity and dysplasia,knowledge of histological scoring systems for ulcerative colitis,uptake of histology scoring systems in routine practice,attitudes towards the role of histological activity,and the use of histological activity in clinical scenarios.RESULTS Of 89 responders(77 gastroenterologists,12 pathologists),there was almost universal acceptance that histological assessment should form part of UC evaluation[95%gastroenterologists,92%pathologists].However,gastroenterologists reported that 92%of their pathologists do not use a histological scoring system.Utilisation of a formal histological scoring system was preferred by 77%of gastroenterologists and 58%of pathologists.Both groups lacked awareness of the Geboes Score,Nancy Index and Robarts Histopathological Index scoring systems with 91%,87%,and 92%of gastroenterologists respectively;and 83%,83%,and 92%pathologists respectively,being uncertain of scoring systems’remission definitions.Histology knowledge score was not significantly different between gastroenterologists and pathologists[9/19(IQR:8-11)vs 8/19(IQR:7-10),P=0.54].Higher knowledge scores were predicted by hospital attending gastroenterologists(P=0.004),participation in inflammatory bowel disease(IBD)multidisciplinary teams(P=0.009),and self-declared IBD sub-specialist(P=0.03).CONCLUSION Histological remission is a recognised target for both gastroenterologists and pathologists.Despite this,knowledge of histological scoring systems and their utilisation is poor.

Premature Puberty Revealing an Ovarian Tumor in a Five-Year-Old Girl

Background: Ovarian tumors in the girl child are sometimes revealed by the development of secondary sexual characteristics. The authors report the case of a five-year-old girl in whom the disease was revealed by early puberty. Case presentation: A five-year-old girl with an enlarged abdomen for about four months. The onset of pain and the sensation of a mass prompted the consultation. The development of secondary sexual characteristics (SSC) noted by the family had not been mentioned. The patient was classified as pubertal stage 2 according to the Tanner classification. An abdominal ultrasound and a CT scan showed a large left ovarian mass, an enlarged uterus for the patient’s age and a normal right ovary. The hormonal workup was not contributive. The treatment consisted only of a left salpingo-ovarectomy, without complementary chemotherapy. Anatomic pathological examination of the surgical specimen concluded to a juvenile tumor of the granulosa. The evolution was good with a beginning of regression of the HSC one month after the ovarectomy. Discussion: Granulosa tumors are sometimes secretory cancers, generally with a low potential for malignancy and therefore a very good prognosis. Surgery based on total adnexectomy is the first-line treatment. The large size of the tumor, the presence of ascites and capsular rupture are factors of poor prognosis, hence the importance of early diagnosis. Conclusion: Routine comprehensive physical examination should be de rigueur for abdominal masses in girls, especially in the context of various beliefs that may impede early referral to care.

Polyposis found on index colonoscopy in a 56-year-old female-BMPR1A variant in juvenile polyposis syndrome:A case report

BACKGROUND Juvenile polyposis syndrome(JPS)is a rare hereditary polyposis disease frequently associated with an autosomal-dominant variant of the SMAD4 or BMPR1A gene.It often manifests with symptoms in children and adolescents and is infrequently diagnosed in asymptomatic adults.Establishing the diagnosis is important as patients with JPS have a high risk of developing gastrointestinal cancer and require genetic counselling and close routine follow-up.CASE SUMMARY We report on the case of a 56-year-old female diagnosed with JPS after genetic testing revealed a rare variant of the BMPR1A gene BMPR1A c.1409T>C(p.Met470Thr).She was initially referred for colonoscopy by her general practitioner after testing positive on a screening faecal immunochemical test and subsequently found to have polyposis throughout the entire colorectum on her index screening colonoscopy.The patient was asymptomatic with a normal physical examination and no related medical or family history.Blood tests revealed only mild iron deficiency without anemia.To date,there has only been one other reported case of JPS with the same genetic variant.Subsequent colonoscopies were organised for complete polyp clearance and the patient was returned for surveillance follow-up.CONCLUSION JPS patients can present with no prior symptoms or family history.Genetic testing plays an important diagnostic role guiding management.

Role of Genetic Ancestry in Oropharyngeal Squamous-Cell Carcinoma: A Cross-Sectional Study in Brazil

Background: HPV infection represents an important etiologic factor for Oropharyngeal Squamous Cell Carcinoma (OPSCC). The different ethnic backgrounds could be related to different susceptibility to Human Papillomavirus (HPV). The aim of our study was to assess the whole of genetic ancestry in HPV status in OPSCC patients. Methods: We conducted a cross-sectional study on patients with OPSCC admitted to the Barretos Cancer Hospital, Brazil from 2014 to 2019. Of these, DNA extraction was performed on 40 patients and genetic ancestry was assessed using a specific panel of 46 informative ancestry markers. Results: We observed a predominance of European ancestry (63%), followed by African (18%), Amerindian (9%) and Asian (8%) both in the OPSCC HPV-positive and HPV-negative group. We did not find any statistically significant differences between the HPV-positive and HPV-negative OPSCC groups in relation to European (p = 0.499), African (p = 0.448), Asian (p = 0.275) or Amerindian (p = 0.836) ancestry. Conclusions: We found a predominance of European ancestry, both in the HPV-positive and HPV-negative groups. In our study, we did not find statistically significant differences between HPV-positive or HPV-negative groups in relation to ancestry.

Simultaneous Neurocysticercosis and Cerebral Toxoplasmosis in a Patient Living with HIV—Case Report

Background: Simultaneous central nervous system infection by more than one pathogen is very uncommon, even in individuals with acquired immunodeficiency syndrome. Purpose and methods: We report a clinical case of an HIV positive patient with simultaneous biopsy-confirmed neurotoxoplasmosis and neurocysticercosis. Results and conclusion: In this report, we present a rare occurrence of two simultaneous parasitic infections of the central nervous system in a patient with advanced immunosuppression due to HIV-1 infection. Despite the limited data available regarding the prevalence of such co-infections, this case underscores the importance of maintaining a high index of suspicion and promptly identifying concurrent neurologic diseases to enable accurate diagnosis and appropriate treatment in these patients.