Identifying patients with right iliac fossa pain at very low risk of appendicitis: Prospective, multicentre validation and calibration of risk scores

A 13-year-old girl presented with a 3-day history of migratory right iliac fossa pain. Observations and inflammatory markers were normal, and an ultrasound scan was inconclusive. A provisional diagnosis of non-specific abdominal pain or early appendicitis was made, and she was discharged with safety netting advice. She presented again 6 days later with ongoing abdominal pain now associated with multiple episodes of vomiting; hence, the decision was made to proceed to diagnostic laparoscopy rather than a magnetic resonance scan for further assessment. Intraoperative findings revealed 200 mL of serous fluid in the pelvis, normal-looking appendix, dilated stomach and a tangle of small bowel loops. Blunt and careful dissection revealed fistulous tracts that magnetised the laparoscopic instruments. A minilaparotomy was performed with the extraction of 14 magnetic beads and the repair of nine enterotomies. This case highlights the importance of careful history taking in children presenting with acute abdominal pain of doubtful aetiology.

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Assessing the clinical utility of genetic risk scores for targeted cancer screening

Journal of Translational Medicine ◽

10.1186/s12967-020-02699-w ◽

2021 ◽

Vol 19 (1) ◽

Author(s):

Carly A. Conran ◽

Zhuqing Shi ◽

William Kyle Resurreccion ◽

Rong Na ◽

Brian T. Helfand ◽

...

Keyword(s):

Colorectal Cancer ◽

Primary Care ◽

High Risk ◽

Risk Score ◽

Genetic Risk ◽

Clinical Utility ◽

Low Risk ◽

Risk Scores ◽

Average Risk ◽

Genetic Risk Scores

Abstract Background Genome-wide association studies have identified thousands of disease-associated single nucleotide polymorphisms (SNPs). A subset of these SNPs may be additively combined to generate genetic risk scores (GRSs) that confer risk for a specific disease. Although the clinical validity of GRSs to predict risk of specific diseases has been well established, there is still a great need to determine their clinical utility by applying GRSs in primary care for cancer risk assessment and targeted intervention. Methods This clinical study involved 281 primary care patients without a personal history of breast, prostate or colorectal cancer who were 40–70 years old. DNA was obtained from a pre-existing biobank at NorthShore University HealthSystem. GRSs for colorectal cancer and breast or prostate cancer were calculated and shared with participants through their primary care provider. Additional data was gathered using questionnaires as well as electronic medical record information. A t-test or Chi-square test was applied for comparison of demographic and key clinical variables among different groups. Results The median age of the 281 participants was 58 years and the majority were female (66.6%). One hundred one (36.9%) participants received 2 low risk scores, 99 (35.2%) received 1 low risk and 1 average risk score, 37 (13.2%) received 1 low risk and 1 high risk score, 23 (8.2%) received 2 average risk scores, 21 (7.5%) received 1 average risk and 1 high risk score, and no one received 2 high risk scores. Before receiving GRSs, younger patients and women reported significantly more worry about risk of developing cancer. After receiving GRSs, those who received at least one high GRS reported significantly more worry about developing cancer. There were no significant differences found between gender, age, or GRS with regards to participants’ reported optimism about their future health neither before nor after receiving GRS results. Conclusions Genetic risk scores that quantify an individual’s risk of developing breast, prostate and colorectal cancers as compared with a race-defined population average risk have potential clinical utility as a tool for risk stratification and to guide cancer screening in a primary care setting.

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Determinants of pulmonary vascular resistance reduction with upfront oral therapy in idiopathic pulmonary arterial hypertension: relevance in risk assessment

European Heart Journal ◽

10.1093/ehjci/ehaa946.2283 ◽

2020 ◽

Vol 41 (Supplement_2) ◽

Author(s):

R Badagliacca ◽

M D'Alto ◽

S Ghio ◽

A Greco ◽

S Papa ◽

...

Keyword(s):

Risk Assessment ◽

Pulmonary Arterial Hypertension ◽

Treatment Response ◽

Oral Therapy ◽

Low Risk ◽

Risk Scores ◽

Intermediate Risk ◽

Risk Status ◽

Pulmonary Arterial ◽

Response Score

Abstract Background In pulmonary arterial hypertension (PAH) upfront oral therapy represents the standard of care for naive patients at low and intermediate risk. However little is known about associated changes in risk assessment and prediction of low risk status achievement. Purpose To evaluate determinants of PVR reduction in patients treated with upfront oral therapy and to create a score to predict PVR reduction after upfront oral treatment and compared its additive value on top of the European and REVEAL scoring system in predicting treatment response. Methods One-hundred-eighty-one consecutive naive PAH patients treated with upfront therapy at 11 italian centers were retrospectively evaluated. Evaluation included clinical, hemodynamic and simple echocardiographic parameters, together with European and REVEAL 2.0 risk scores. Results At the time of diagnosis, the majority of the patients was idiopathic PAH (80.6%), female (66.3%), at intermediate risk, 71.8% and 55.2%, respectively, according to the European (average method) and the REVEAL 2.0 risk scores. Ambrisentan-Tadalafil was the most frequent combination used (62%). The median PVR reduction obtained after 180 days (IQR 79–394) was −40.4% (IQR −25.8; −45.3). Age ≥60 years, male-sex, baseline mPAP 48 mmHg associated with low CI (<2.5 l/min/m2), and RV/LV ratio >1 associated with low TAPSE (<18 mm) emerged as independent predictors of poor PVR reduction, defined as the lower tertile of PVR changes (−25.8%). A treatment response score was created deriving weighted integers from the beta coefficient. At second evaluation 78 (43.1%) patients achieved or remained at European-derived low risk status, while 63 (34.8%) considering the REVEAL 2.0 score. Multivariate analysis for the prediction of treatment failure, defined as the absence of low-risk status at follow-up, demonstrated the incremental prognostic power of the models incorporating the treatment response score (≥3) on top of the European and REVEAL 2.0 scores, improving risk discrimination by 63.2% (IDI index 0.056) and 36.8% (IDI index 0.080), respectively. Conclusions A significant proportion of PAH patients treated with upfront oral combination are not able to achieve a low-risk status. The treatment response score helps clinicians in predicting treatment failure at the time of diagnosis. Funding Acknowledgement Type of funding source: None

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A highly expressed mRNA signature for predicting survival in patients with stage I/II non-small-cell lung cancer after operation

Scientific Reports ◽

10.1038/s41598-021-85246-x ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Nan Ma ◽

Lu Si ◽

Meiling Yang ◽

Meihua Li ◽

Zhiyi He

Keyword(s):

High Risk ◽

Roc Curve ◽

Expression Profiles ◽

Low Risk ◽

Stage I ◽

Risk Scores ◽

Training Set ◽

Cox Regression Analysis ◽

Nsclc Patients ◽

Rna Signature

AbstractThere is an urgent need to identify novel biomarkers that predict the prognosis of patients with NSCLC. In this study,we aim to find out mRNA signature closely related to the prognosis of NSCLC by new algorithm of bioinformatics. Identification of highly expressed mRNA in stage I/II patients with NSCLC was performed with the “Limma” package of R software. Survival analysis of patients with different mRNA expression levels was subsequently calculated by Cox regression analysis, and a multi-RNA signature was obtained by using the training set. Kaplan–Meier estimator, log-rank test and receiver operating characteristic (ROC) curves were used to analyse the predictive ability of the multi-RNA signature. RT-PCR used to verify the expression of the multi-RNA signature, and Westernblot used to verify the expression of proteins related to the multi-RNA signature. We identified fifteen survival-related mRNAs in the training set and classified the patients as high risk or low risk. NSCLC patients with low risk scores had longer disease-free survival than patients with high risk scores. The fifteen-mRNA signature was an independent prognostic factor, as shown by the ROC curve. ROC curve also showed that the combined model of the fifteen-mRNA signature and tumour stage had higher precision than stage alone. The expression of fifteen mRNAs and related proteins were higher in stage II NSCLC than in stage I NSCLC. Multi-gene expression profiles provide a moderate prognostic tool for NSCLC patients with stage I/II disease.

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Identifying individuals with high risk of Alzheimer’s disease using polygenic risk scores

Nature Communications ◽

10.1038/s41467-021-24082-z ◽

2021 ◽

Vol 12 (1) ◽

Author(s):

Ganna Leonenko ◽

Emily Baker ◽

Joshua Stevenson-Hoare ◽

Annerieke Sierksma ◽

Mark Fiers ◽

...

Keyword(s):

High Risk ◽

Risk Score ◽

Genetic Risk ◽

Prediction Accuracy ◽

Genetic Risk Score ◽

Low Risk ◽

Risk Scores ◽

Sample Mean ◽

Polygenic Risk ◽

Reliable Identification

AbstractPolygenic Risk Scores (PRS) for AD offer unique possibilities for reliable identification of individuals at high and low risk of AD. However, there is little agreement in the field as to what approach should be used for genetic risk score calculations, how to model the effect of APOE, what the optimal p-value threshold (pT) for SNP selection is and how to compare scores between studies and methods. We show that the best prediction accuracy is achieved with a model with two predictors (APOE and PRS excluding APOE region) with pT<0.1 for SNP selection. Prediction accuracy in a sample across different PRS approaches is similar, but individuals’ scores and their associated ranking differ. We show that standardising PRS against the population mean, as opposed to the sample mean, makes the individuals’ scores comparable between studies. Our work highlights the best strategies for polygenic profiling when assessing individuals for AD risk.

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Giant sigmoid diverticulitis mimicking acute appendicitis

Annals of The Royal College of Surgeons of England ◽

10.1308/147870811x591008 ◽

2011 ◽

Vol 93 (6) ◽

pp. e89-e90 ◽

Cited By ~ 2

Author(s):

M Anderton ◽

B Griffiths ◽

G Ferguson

Keyword(s):

Computed Tomography ◽

Iliac Fossa ◽

Treatment Options ◽

Sigmoid Diverticulitis ◽

Acute Presentation ◽

Rare Manifestation ◽

Giant Sigmoid Diverticulum ◽

Right Iliac Fossa Pain ◽

Colonic Diverticula

Giant colonic diverticula are a rare manifestation of diverticular disease and there are fewer than 150 cases described in the literature. They may have an acute or chronic presentation or may remain asymptomatic and be found incidentally. As the majority (over 80%) of giant diverticula are located in the sigmoid colon, they usually present with left-sided symptoms but due to the variable location of the sigmoid loop, right-sided symptoms are possible. We describe the acute presentation of an inflamed giant sigmoid diverticulum with right iliac fossa pain. We discuss both the treatment options for this interesting condition and also the important role of computed tomography in the diagnosis and management of abdominal pain in elderly patients.

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National audit of the management of right iliac fossa pain in children

International Journal of Surgery ◽

10.1016/j.ijsu.2018.05.415 ◽

2018 ◽

Vol 55 ◽

pp. S87-S88

Author(s):

RIFT Study Group

Keyword(s):

Iliac Fossa ◽

National Audit ◽

Right Iliac Fossa Pain

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Antibiotics and Right Iliac Fossa Pain

Annals of Surgery ◽

10.1097/sla.0000000000001043 ◽

2016 ◽

Vol 263 (3) ◽

pp. e54

Author(s):

Faraaz de Belder

Keyword(s):

Iliac Fossa ◽

Right Iliac Fossa Pain

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Problem with right iliac fossa pain

ANZ Journal of Surgery ◽

10.1111/j.1445-2197.2012.06042.x ◽

2012 ◽

Vol 82 (5) ◽

pp. 379-379

Author(s):

Andrew Jones ◽

Mohammed Z. Akhtar

Keyword(s):

Iliac Fossa ◽

Right Iliac Fossa Pain

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Stapled diverticulectomy for solitary caecal diverticulitis

Annals of The Royal College of Surgeons of England ◽

10.1308/003588412x13373405387131 ◽

2012 ◽

Vol 94 (8) ◽

pp. e4-e5 ◽

Cited By ~ 3

Author(s):

RU Uwechue ◽

ER Richards ◽

M Kurer

Keyword(s):

Chronic Obstructive Pulmonary Disease ◽

Pulmonary Disease ◽

Clinical Diagnosis ◽

Iliac Fossa ◽

Chronic Obstructive ◽

Obstructive Pulmonary Disease ◽

Operative Strategy ◽

Right Iliac Fossa Pain ◽

Operative Recovery ◽

Broad Consensus

Caecal diverticulitis is an uncommon phenomenon in western countries. The clinical diagnosis is often difficult as it mimics other acute abdominal conditions like appendicitis, colitis or neoplasia. Diagnosis is often made at operation. Operative strategy has been controversial and there is no broad consensus emerging. We report the case of a 71-year-old woman, known to have chronic obstructive pulmonary disease, who presented acutely with right iliac fossa pain. A clinical diagnosis of appendicitis was made. At laparoscopy, a solitary, inflamed, gangrenous caecal diverticulum was found. A laparoscopic stapled diverticulectomy was performed. The patient made a steady post-operative recovery. Histology confirmed diverticulitis. We conclude that stapled diverticulectomy for solitary caecal diverticulitis is a safe and effective surgical strategy when confronted with this scenario.

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