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The Impact of Artificial Intelligence on Optimizing Diagnosis and Treatment Plans for Rare Genetic Disorders (2023)

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Type of publication:Journal article

Author(s):Abdallah, Shenouda; Sharifa, Mouhammad; I Kh Almadhoun, Mohammed Khaleel; Khawar, Muhammad Muneeb Sr; Shaikh, Unzla; Balabel, Khaled M; Saleh, Inam; Manzoor, Amima; Mandal, Arun Kumar; *Ekomwereren, Osatohanmwen; Khine, Wai Mon; Oyelaja, Oluwaseyi T.

Citation:Cureus. 15(10):e46860, 2023 Oct.

Abstract:Rare genetic disorders (RDs), characterized by their low prevalence and diagnostic complexities, present significant challenges to healthcare systems. This article explores the transformative impact of artificial intelligence (AI) and machine learning (ML) in addressing these challenges. It emphasizes the need for accurate and early diagnosis of RDs, often hindered by genetic and clinical heterogeneity. This article discusses how AI and ML are reshaping healthcare, providing examples of their effectiveness in disease diagnosis, prognosis, image analysis, and drug repurposing. It highlights AI's ability to efficiently analyze extensive datasets and expedite diagnosis, showcasing case studies like Face2Gene. Furthermore, the article explores how AI tailors treatment plans for RDs, leveraging ML and deep learning (DL) to create personalized therapeutic regimens. It emphasizes AI's role in drug discovery, including the identification of potential candidates for rare disease treatments. Challenges and limitations related to AI in healthcare, including ethical, legal, technical, and human aspects, are addressed. This article underscores the importance of data ethics, privacy, and algorithmic fairness, as well as the need for standardized evaluation techniques and transparency in AI research. It highlights second-generation AI systems that prioritize patient-centric care, efficient patient recruitment for clinical trials, and the significance of high-quality data. The integration of AI with telemedicine, the growth of health databases, and the potential for personalized therapeutic recommendations are identified as promising directions for the field. In summary, this article provides a comprehensive exploration of how AI and ML are revolutionizing the diagnosis and treatment of RDs, addressing challenges while considering ethical implications in this rapidly evolving healthcare landscape.

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Improving the Outcome of Patients With Heart Failure: Assessment of Iron Deficiency and Intravenous Iron Replacement (2023)

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Type of publication:Journal article

Author(s):*Yera, Hassan O; Khan, Ahsan; Akinlade, Olawale M; Champsi, Asgher; Glouzon, Van Nam J; Spencer, Charles.

Citation:Cureus. 15(10):e47027, 2023 Oct.

Abstract:Background Iron deficiency (ID) has been shown to be a significant co-morbidity in patients with heart failure (HF), independent of their anaemia status. Correction of ID has been shown to improve quality of life, recurrent heart failure hospitalizations and morbidity. A quality improvement project was designed to improve the assessment and treatment of iron deficiency in HFatients in our tertiary care centre. Methods and results An initial baseline dataset was collected, followed by two cycles of interventions to help improve the care of HF patients admitted to our hospital over a two-month period. The Plan-Do-Study-Act (PDSA) cycle approach was applied, with the first intervention involving raising awareness of the importance and need to assess the iron status of HF patients through education provided to doctors, nurses and patients. Furthermore, information leaflets were produced and disseminated across the medical wards and through social media forums. The post-intervention datasets were collected and compared to the baseline outcomes. Baseline data showed that only four (20%) of heart failure patients had their iron status checked. Following the interventions, screening for ID increased to 80% (16), of which 85% (11) of those who identified as iron deficient received intravenous iron replacement. Conclusion The project was successful in improving the practice of screening for iron deficiency and intravenous replacement of iron in patients with HF.

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The development and acceptability of an educational and training intervention for recruiters to neonatal trials: the TRAIN project (2023)

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Type of publication:Journal article

Author(s):Smith, V; Delaney, H; Hunter, A; Torgerson, D; Treweek, S; Gamble, C; Mills, N; Stanbury, K; Dempsey, E; Daly, M; O'Shea, J; Weatherup, K; *Deshpande, S; Ryan, M A; Lowe, J; Black, G; Devane, D.

Citation:BMC Medical Research Methodology. 23(1):265, 2023 Nov 11.

Abstract:BACKGROUND: Suboptimal or slow recruitment affects 30-50% of trials. Education and training of trial recruiters has been identified as one strategy for potentially boosting recruitment to randomised controlled trials (hereafter referred to as trials). The Training tRial recruiters, An educational INtervention (TRAIN) project was established to develop and assess the acceptability of an education and training intervention for recruiters to neonatal trials. In this paper, we report the development and acceptability of TRAIN. METHODS: TRAIN involved three sequential phases, with each phase contributing information to the subsequent phase(s). These phases were 1) evidence synthesis (systematic review of the effectiveness of training interventions and a content analysis of the format, content, and delivery of identified interventions), 2) intervention development using a Partnership (co-design/co-creation) approach, and 3) intervention acceptability assessments with recruiters to neonatal trials. RESULTS: TRAIN, accompanied by a comprehensive intervention manual, has been designed for online or in-person delivery. TRAIN can be offered to recruiters before trial recruitment begins or as refresher sessions during a trial. The intervention consists of five core learning outcomes which are addressed across three core training units. These units are the trial protocol (Unit 1, 50 min, trial-specific), understanding randomisation (Unit 2, 5 min, trial-generic) and approaching and engaging with parents (Unit 3, 70 min, trial-generic). Eleven recruiters to neonatal trials registered to attend the acceptability assessment training workshops, although only four took part. All four positively valued the training Units and resources for increasing recruiter preparedness, knowledge, and confidence. More flexibility in how the training is facilitated, however, was noted (e.g., training divided across two workshops of shorter duration). Units 2 and 3 were considered beneficial to incorporate into Good Clinical Practice Training or as part of induction training for new staff joining neonatal units. CONCLUSION: TRAIN offers a comprehensive co-produced training and education intervention for recruiters to neonatal trials. TRAIN was deemed acceptable, with minor modification, to neonatal trial recruiters. The small number of recruiters taking part in the acceptability assessment is a limitation. Scale-up of TRAIN with formal piloting and testing foreffectiveness in a large cluster randomised trial is required.

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Echocardiographic Assessment of the Left Ventricle in Young Prehypertensive Nigerians (2023)

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Type of publication:Journal article

Author(s):Oboirien, Isa O; *Yera, Hassan O; Akinlade, Olawale M; Omoniyi, Oluwamayowa N; Umar, Hayatu; Sani, Mahmoud U.

Citation:Cureus. 15(10):e46740, 2023 Oct

Abstract:BACKGROUND: Prehypertension is associated with an increased risk of cardiovascular morbidity and mortality. This risk could partly be explained by the early compromise in left ventricular (LV) structure and function. This study investigated the LV geometry and function in young black prehypertensive subjects. METHODS AND RESULTS: This cross-sectional descriptive study was conducted at the Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria. Echocardiography-derived LV geometry and function were assessed using standardized methods. Prehypertensive subjects had higher mean systolic blood pressure (BP) (130.78 +/- 3.57 mmHg vs 111.42 +/- 3.54 mmHg, P<0.001), diastolic BP (79.32 +/- 4.13 mmHg vs 66.39 +/- 4.42 mmHg, P<0.001), body mass index (BMI) (26.24 +/- 3.45 kg/m2 vs 22.20 +/- 2.21 kg/m2, P<0.001), waist circumference (WC) (86.93 +/- 8.73 cm vs 76.73 +/- 6.66 cm, P<0.001), fasting blood glucose (FBG) (93.84 +/- 7.28 mg/dl vs 90.08 +/- 6.26 mg/dl, P<0.001), and dyslipidemia (21.5% vs 6%. P<0.001) compared to normotensive subjects. LV mass index (LVMI) was greater in prehypertensive subjects compared to normotensive subjects {male (106.84 +/- 12.34 g/m2 vs 76.07 +/- 10.25 g/m2, P<0.001); female (92.06 +/- 8.80 g/m2 vs 66.53 +/- 7.21 g/m2, P<0.001)}, with abnormal LV geometry recorded in 17.5%. Linear regression analysis showed that waist circumference, systolic BP, serum creatinine level, and urea level were determinants of LVMI. The prevalence of LV diastolic dysfunction was higher in prehypertensive subjects than in normotensive subjects (14.5% vs. 0.5%, P<0.001), with systolic BP {odds ratio (OR) 0.928, confidence interval (CI) 0.834 – 0.969; P=0.016)} and diastolic BP (OR 0.832, CI 0.722 – 0.958; P=0.011) being independent predictors. CONCLUSION: This study showed that prehypertension in young Black subjects was associated with altered LV geometry and impaired diastolic function, and these changes demonstrated linear progression with increasing systolic BP

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Endocervical crypt involvement by high-grade cervical intraepithelial neoplasia and its association with high-grade histopathological recurrence after cervical excision in women with negative excision margins: a systematic review and meta-analysis (2024)

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Type of publication:
Journal article

Author(s):
*Papoutsis, Dimitrios; *Underwood, Martyn; *Parry-Smith, William; Tzavara, Chara.

Citation:
Archives of Gynecology & Obstetrics. 2023 Oct 11.

Abstract:
BACKGROUND: There is a growing body of evidence suggesting that endocervical crypt involvement by high-grade cervical intraepithelial neoplasia (CIN) may represent a risk factor for disease recurrence after cervical treatment. OBJECTIVES: To provide a systematic review and meta-analysis on whether endocervical crypt involvement by high-grade CIN on the excised cervical specimen is associated with high-grade histopathological recurrence during the follow-up of women after cervical excisional treatment. SEARCH STRATEGY: We searched the Medline, Scopus, Central, and Clinical Trials.gov databases from inception till May 2023. SELECTION CRITERIA: Studies that reported on women with a single cervical treatment with any method of excision for CIN2 or CIN3 lesion, negative excision margins, and whose recurrence was defined histopathologically were included. DATA COLLECTION AND ANYSIS: Two reviewers independently evaluated study eligibility. We used the fixed effects model for meta-analysis. MAIN RESULTS: There were 4 eligible studies included in the present systematic review that evaluated 1088 women treated with either large loop excision of the transformation zone (LLETZ) or with cold knife conization (CKC). We found no significant association of endocervical crypt involvement by CIN2-3 with high-grade histopathological recurrence at follow-up after cervical excision (OR 1.93; 95% CI 0.51-3.35). The subgroup analysis of women with LLETZ cervical excision showed again no significant association with high-grade histopathological recurrence at follow-up (OR 2.00; 95% CI 0.26-3.74). CONCLUSION: Endocervical crypt involvement by high-grade CIN does not seem to be a risk factor for high-grade histopathological recurrence after cervical excision with negative excision margins.

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The Short- and Long-Term Safety and Efficacy Profile of Subtotal Cholecystectomy: A Single-Centre, Long-Term, Follow-Up Study (2023)

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Type of publication:
Journal article

Author(s):
*Bodla, Ahmed Salman; *Rashid, Muhammad Umair; *Hassan, Maleeha; *Rehman, Saad; *Kirby, George.

Citation:
Cureus. 15(8):e44334, 2023 Aug. [epub ahead of print]

Abstract:
Background Subtotal cholecystectomy (STC) has been reported as an effective method to remove the gallbladder if the hepatocystic triangle anatomy is unfavourable. However, the evidence regarding its long-term outcomes from the United Kingdom (UK) is lacking. This study aimed to assess its short and long-term outcomes with a minimum of one-year follow-up. Methodology We retrospectively analysed all elective and emergency STCs performed in a single UK NHS Trust between 2014 and 2020. Relevant data were collected using electronic patient records and questionnaire-based, long-term, telephonic follow-up (median follow-up of 3.7 years). Outcomes examined were immediate/short-term complications (biliary injury, bile leak, return-to-theatre) and long-term problems (recurrent symptoms, choledocholithiasis, cholangitis/pancreatitis). Results There were a total of 50 STC cases (58% females) out of 4,341 cholecystectomies performed (1.15%), with the median age, body mass index, and length of stay being 69.5 years, 29 kg/m2 and eight days, respectively. Twenty-eight (56%) were emergency. No patient endured bile duct injury. Seven (14%) patients had postoperative bile leak which was significantly more common when Hartmann's pouch was left open (33% vs. 8%; p = 0.03). No bile duct injury was reported. Most were managed conservatively (endoscopic retrograde cholangiopancreatography + stent: four; radiological drainage: one; no intervention: one). Only one patient required laparoscopic lavage and drainage. The true incidence of developing choledocholithiasis over the long term was 4/50 (8%) in our study. The median interval between STC and the diagnosis of postoperative choledocholithiasis was 15.9 months. All four patients had undergone type 1 STC (where the remnant of Hartmann's pouch was closed with sutures); however, subsequent cross-sectional imaging (magnetic resonance cholangiopancreatography or computed tomography) showed that the gallbladder remnant was visible in only two of these four patients. Conclusions STC is a safe option in difficult situations and prevents bile duct injury. Although the risk of bile leak can be reduced by closing Hartmann's pouch remnant, this may slightly increase the risk of subsequent stone formation. Infrequent occurrence of recurrent gallstone-related symptoms or complications favours its use

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Comparison of the Efficacy of Male Sexual Activity Versus Alpha-Blockers in the Expulsion of Distal Ureteric Stones: A Systematic Review and Meta-Analysis (2021)

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Type of publication:Systematic Review

Author(s):Juman, Charlotte; Bruce, Angus; Kwan, Tsun Y; *Krishan, Anil; Ehsanullah, Syed Ali Mohsin; Khashaba, Shehab; Rafie, Mohamed A.

Citation:Cureus. 13(11):e19347, 2021 Nov.

Abstract:Globally, the prevalence of urolithiasis is increasing, with limited effective treatment options. Though debate exists within the literature, the use of medical expulsive therapy (MET) for distal ureteric stones in the form of alpha-blockers is commonplace. Alpha-blockers work via the inhibition of norepinephrine, resulting in a small degree of distal ureteric relaxation. Nitric oxide (NO), the main neurotransmitter involved in penile erection, causes smooth muscle relaxation of the distal ureter. It is hypothesised that these alternative pathways may achieve the same desire clinical effect. To our knowledge, this is the first meta-analysis comparing the efficacy of male sexual activity, in the form of intercourse or masturbation, to alpha-blockers in the expulsion of ureteric stones. We conducted a comprehensive search of electronic databases (PubMed, MEDLINE, EMBASE, SCOPUS, CENTRAL and Google Scholar), identifying studies comparing male sexual activity versus alpha-blockers, in male patients with distal ureteric stones. The Cochrane risk-of-bias tool was used to assess the included studies. For data analysis, a random effects model was used in the event of significant heterogeneity (>75%), with fixed-effects modelling in the event of low-moderate heterogeneity. A search of electronic databases found three randomised control trials (RCTs), enrolling a total of 262 patients. There was no statistically significant difference observed when patients engaged in sexual activity rather than alpha-blocker, when looking at stone expulsion rate at two weeks (P=0.36), expulsion rate at four weeks (P=0.57), or the mean stone expulsion time (P=0.21). Furthermore, there was no significant difference observed when looking at analgesic requirements (P=0.43), or the requirement for additional procedures (P=0.57). Our meta-analysis demonstrated that male sexual activity as an alternative therapy for distal ureteric stones had comparable outcomes to the use of alpha-blocker, proving a viable alternative therapy in those patients wishing to avoid pharmacological management.

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Proposal of a modified tip apex distance for prediction of lag screw cut-out in trochanteric hip fractures (2023)

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Type of publication:Journal article

Author(s):*Selim, Amr; Al-Hadithy, Nawfal; Diab, Nader M; Ahmed, Abdulla Mohamed; Kader, Khaled Fawzy Abdel; Hegazy, Mohamed; Azeem, Hazem Abdel; Barakat, Ahmed Samir.

Citation:Sicotj. 9:28, 2023.

Abstract:INTRODUCTION: Lag screw cut-out is a serious complication of dynamic hip screw fixation of trochanteric hip fractures. The lag screw position has been acknowledged as one of the important factors affecting the lag screw cut-out. We propose a modification of the Tip Apex Distance (TAD) and hypothesise that it could improve the reliability of predicting lag screws cut-out in these injuries. MATERIALS AND METHODS: A retrospective study was conducted for hip fracture entries in the period from Jan 2018 to July 2022. A hundred and nine patients were suitable for the final analysis. The modified TAD was measured in millimetres based on the sum of the traditional TAD in the lateral view and the net value of two distances in the AP view, the first distance is from the tip of the lag screw to the opposite point on the femoral head along the axis of the lag screw while the second distance is from that point to the femoral head apex. The first distance is a positive value, whereas the second distance is positive if the lag screw is superior and negative if inferior. A receiver operating characteristic curve was used to evaluate the reliability of the different parameters assessing the lag screw position within the femoral head. RESULTS: Reduction quality, fracture pattern as per the AO/OTA classification, TAD, Calcar Referenced TAD, Axis Blade Angle, Parker's ration in the AP view, Cleveland Zone 1, and modified TAD were statistically associated with lag screw cut-out. Among the tested parameters, the modified TAD had 90.1% sensitivity and 90.9% specificity for lag screw cut-out at a cut-off value of 25 mm with a P-value < 0.001. CONCLUSION: The modified TAD had the highest reliability in the prediction of lag screw cut-out. A value <= 25 mm could potentially protect against lag screw cut-out in trochanteric hip fractures.

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Impelling Factors for Contracting COVID-19 Among Surgical Professionals During the Pandemic: A Multinational Cohort Study (2023)

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Type of publication:Journal article

Author(s):Yang, Wah; Bangash, Ali Haider; Kok, Johnn Henry Herrera; Cheruvu, Chandra; Parmar, Chetan; Isik, Arda; Galanis, Michail; Di Maggio, Francesco; Atici, Semra Demirli; Abouelazayem, Mohamed; *Bandyopadhyay, Samik Kumar; Viswanath, Yirupaiahgari K S.

Citation:Journal of Clinical Medicine Research. 15(4):233-238, 2023 Apr.

Abstract:Background: Medical workers, including surgical professionals working in coronavirus disease 2019 (COVID-19) treating hospitals, were under enormous stress during the pandemic. This global study investigated factors endowing COVID-19 amongst surgical professionals and students. Methods: This global cross-sectional survey was made live on February 18, 2021 and closed for analysis on March 13, 2021. It was freely shared on social and scientific media platforms and was sent via email groups and circulated through a personal network of authors. Chi-square test for independence, and binary logistic regression analysis were carried out on determining predictors of surgical professionals contracting COVID-19. Results: This survey captured the response of 520 surgical professionals from 66 countries. Of the professionals, 92.5% (481/520) reported practising in hospitals managing COVID-19 patients. More than one-fourth (25.6%) of the respondents (133/520) reported suffering from COVID-19 which was more frequent in surgical professionals practising in public sector healthcare institutions (P = 0.001). Thirty-seven percent of those who reported never contracting COVID-19 (139/376) reported being still asked to practice self-isolation and wear a shield without the diagnosis (P = 0.001). Of those who did not contract COVID-19, 75.7% (283/376) were vaccinated (P < 0.001). Surgical professionals undergoing practice in the private sector (odds ratio (OR): 0.33; 95% confidence interval (CI): 0.14 – 0.77; P = 0.011) and receiving two doses of vaccine (OR: 0.55; 95% CI: 0.32 – 0.95; P = 0.031) were identified to enjoy decreased odds of contracting COVID-19. Only 6.9% of those who reported not contracting COVID-19 (26/376) were calculated to have the highest "overall composite level of harm" score (P < 0.001). Conclusions: High prevalence of respondents got COVID-19, which was more frequent in participants working in public sector hospitals. Those who reported contracting COVID-19 were calculated to have the highest level of harm score. Self-isolation or shield, getting two doses of vaccines decreases the odds of contracting COVID-19.

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Surgical experience and identification of errors in laparoscopic cholecystectomy (2023)

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Type of publication:
Journal article

Author(s):
Humm, Gemma L; Peckham-Cooper, Adam; *Chang, Jessica; Fernandes, Roland; Gomez, Naim Fakih; Mohan, Helen; Nally, Deirdre; Thaventhiran, Anthony J; Zakeri, Roxanna; Gupte, Anaya; Crosbie, James; Wood, Christopher; Dawas, Khaled; Stoyanov, Danail; Lovat, Laurence B.

Citation:
British Journal of Surgery. 2023 Aug 23. [epub ahead of print]

Abstract:
BACKGROUND: Surgical errors are acts or omissions resulting in negative consequences and/or increased operating time. This study describes surgeon-reported errors in laparoscopic cholecystectomy. METHODS: Intraoperative videos were uploaded and annotated on Touch SurgeryTM Enterprise. Participants evaluated videos for severity using a 10-point intraoperative cholecystitis grading score, and errors using Observational Clinical Human Reliability Assessment, which includes skill, consequence, and mechanism classifications. RESULTS: Nine videos were assessed by 8 participants (3 junior (specialist trainee (ST) 3-5), 2 senior trainees (ST6-8), and 3 consultants). Participants identified 550 errors. Positive relationships were seen between total operating time and error count (r2 = 0.284, P < 0.001), intraoperative grade score and error count (r2 = 0.578, P = 0.001), and intraoperative grade score and total operating time (r2 = 0.157, P < 0.001). Error counts differed significantly across intraoperative phases (H(6) = 47.06, P < 0.001), most frequently at dissection of the hepatocystic triangle (total 282; median 33.5 (i.q.r. 23.5-47.8, range 15-63)), ligation/division of cystic structures (total 124; median 13.5 (i.q.r. 12-19.3, range 10-26)), and gallbladder dissection (total 117; median 14.5 (i.q.r. 10.3-18.8, range 6-26)). There were no significant differences in error counts between juniors, seniors, and consultants (H(2) = 0.03, P = 0.987). Errors were classified differently. For dissection of the hepatocystic triangle, thermal injuries (50 in total) were frequently classified as executional, consequential errors; trainees classified thermal injuries as step done with excessive force, speed, depth, distance, time or rotation (29 out of 50), whereas consultants classified them as incorrect orientation (6 out of 50). For ligation/division of cystic structures, inappropriate clipping (60 errors in total), procedural errors were reported by junior trainees (6 out of 60), but not consultants. For gallbladder dissection, inappropriate dissection (20 errors in total) was reported in incorrect planes by consultants and seniors (6 out of 20), but not by juniors. Poor economy of movement (11 errors in total) was reported more by consultants (8 out of 11) than trainees (3 out of 11). CONCLUSION: This study suggests that surgical experience influences error interpretation, but the benefits for surgical training are currently unclear.

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