2024

Counselling and management of women with genetic predisposition to gynaecological cancers (2024)

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Type of publication:
Journal article

Author(s):
*Malik, Naushabah; *Sahu, Banchhita

Citation:
European Journal of Obstetrics, Gynecology, & Reproductive Biology. 294:44-48, 2024 Mar.

Abstract:
OBJECTIVE: To review the literature with reference to counselling and management of women with genetic predisposition to gynaecological cancers. METHODS: Histochemical analysis, ultrasound, blood investigations, genetic testing, screening and risk-reducing surgery (RRS) are important tools for the management of gynaecological cancers and mortality reduction. Counselling can assist in timely management of gynaecological cancers. Systematic reviews, review articles, observational studies and clinical trials on PubMed, published in the English language, were included in this review. RESULTS: The management of women with genetic predisposition to gynaecological cancers through screening tests and RRS has led to a significant decrease in the risk of malignancy through RRS in cases with BRCA1 and BRCA2 gene mutations. RRS and screening have also been found to reduce the mortality rate and increase the survival rate in women with BRCA1 and BRCA2 gene mutations. The efficacy of endometrial cancer surveillance in women with Lynch syndrome is still unproven. RRS has not been reported to be effective in women with Cowden syndrome. The risk of ovarian malignancies in individuals with germline mutations remains minimal in the general population in comparison with genetic mutations. CONCLUSION: Genetic testing and RRS should be implemented in addition to genetic counselling for proper management and mortality reduction of women predisposed to gynaecological cancers.

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Musculotendinous ruptures of the achilles tendon had greater heel-rise height index compared with mid-substance rupture with non-operative management: A retrospective cohort study (2024)

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Type of publication:
Journal article

Author(s):
*Carmont, Michael R; Gunnarsson, Baldvin; Brorsson, Annelie; Nilsson-Helander, Katarina.

Citation:
Journal of Isakos. 9(2):148-152, 2024 Apr.

Abstract:
INTRODUCTION: Achilles tendon ruptures (ATRs) may occur at varying locations with ruptures at the mid-substance (MS) of the tendon most common, followed tears at the musculotendinous (MT) junction. There is scant literature about the outcome of MT ATR. This study compared the outcome of patients with a MT ATR with patients following a MS ATR. METHODS: The diagnostic features and clinical outcome of 37 patients with a MT ATR were compared with a cohort of 19 patients with a MS ATR. Patients in both groups were managed non-operatively and received the same rehabilitation protocol with weight-bearing rehabilitation in protective functional brace. RESULTS: From February 2009 to August 2023, 556 patients presented with an ATR. Of these, 37 (6.7 %) patients were diagnosed with a MT tear. At final follow-up, at 12 months following injury, the MT group reported an Achilles tendon total rupture score (ATRS) of mean (standard deviation (SD)) of 83.6 (3.5) (95 % confidence interval (CI) 81.8, 85.4) and median (inter-quartile range (IQR)) ATRS of 86 points (78-95.5) and the MS group mean (SD) of 80.3 (8.5) (95%CI) 76.1, 80.5) and median (IQR) of 87 points (59-95) (p = 0.673). Functional evaluation, however, revealed statistically significant differences in mean (SD) heel-rise height index MT group 79 % (25) (95%CI 65.9, 92.1) and MS group 59 % (13) (95%CI 51.9, 67.1) (p = 0.019). In the MT rupture group, there were considerably less complications than the MS rupture group. CONCLUSIONS: When managed non-operatively, with only a 6 weeks period of brace protection, patients have little limitation although have some residual reduction of single heel-rise at the one-year following MT ATR. LEVEL OF EVIDENCE: IV.

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Biomarkers in Prostate Cancer: A Review (2024)

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Type of publication:
Journal article

Author(s):
Ahmadieh, Nizar; Zeidan, Toufic; Chaaya, Celine; *Cain, David; Aoude, Marc; Abouchahla, Anita; Kourie, Hampig Raphael; Nemer, Elie.

Citation:
The Gulf Journal of Oncology. 1(44):81-93, 2024 Jan.

Abstract:
BACKGROUND: Prostate cancer (PC) is the second most common cancer in men worldwide. It's the second leading cause cancer men in death. Prognostic tests based on molecular and biomarker analysis of tumor tissue may improve risk stratification of prostate cancer 2. MATERIALS AND METHODS: After a search on Pubmed for PC biomarkers, 72 papers responded to the objectives and will be included in the review. RESULTS: A plethora of biomarkers are predictive for the prognosis of PC and its response to certain therapies, while others, once thought to be indicative of prognosis in PC, were not. CONCLUSIONS: This study can help in the development of diagnostic and prognostic tests of PC and contribute to the ongoing research into already existing tests.

Efficacy of atypical antipsychotics in the treatment of fecal incontinence in children and adolescents: a randomized clinical trial (2024)

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Type of publication:
Randomised controlled trial

Author(s):
Zahed, Ghazal; Fatahi, Somaye; Tabatabaee, Leila; Imanzadeh, Negar; *Seraj, Shaikh Sanjid; Wolters, Benjamin Hernandez; Hosseini, Amirhossein

Citation:
BMC Pediatrics. 24(1):7, 2024 Jan 03.

Abstract:
OBJECTIVES: Functional retentive overflow incontinence (retentive FI) is the most common cause of fecal soiling in children. Based on the clinical experiences, the treatment of retentive FI in patients with comorbid psychiatric disorders was accelerated when Risperidone was used as treatment for their psychiatric comorbidities; therefore, this study was conducted to evaluate the effect of risperidone in the treatment of retentive FI in children and adolescents. METHODS: In this double-blind, randomized, placebo-controlled trial, 140 patients aged 4-16 years eligible for the study were randomized into two groups, receiving either 0.25-0.5 mg of Risperidone syrup (n = 70) or maltodextrin syrup (placebo group, n = 70) every 12 h daily for 12 weeks. Sociodemographic data, including age, sex, weight, height, BMI, BMI z-score, and socioeconomic status, was recorded, and the number of nocturnal FI, diurnal FI, and painful defecations was measured. RESULTS: 136 participants (69 on Risperidone and 67 on placebo) were included in the study. Mean age of participants in the intervention and placebo groups were 7.2 +/- 2.4 years and 8.0 +/- 3.1 years, respectively. The mean number of nocturnal FI (Ptrend=0.39) and diurnal FI (Ptrend=0.48) in patients without psychiatric comorbidities, and the number of painful defecations for participants with and without psychiatric comorbidities (P = 0.49, P = 0.47, respectively) were not significantly different between the groups, but a significant effect was observed in diurnal FI after Risperidone treatment in patients with psychiatric comorbidities (P < 0.001). CONCLUSION: Risperidone, when used along with other non-pharmacological interventions, may be helpful in treating FI in pediatric patients with psychiatric comorbidities.

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Ankle sprains: a review of mechanism, pathoanatomy and management (2023)

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Type of publication:
Journal article

Author(s):
*Zahra W.; *Meacher H.; *Heaver C.

Citation:
Orthopaedics and Trauma. 38(1) (pp 25-34), 2024. Date of Publication: February 2024.

Abstract:
Ankle sprains are one of the most common musculoskeletal injuries. A sprain is defined as the stretching or tearing of ligaments; in the ankle these are the lateral ligamentous complex, deltoid ligament and distal tibiofibular syndesmosis ligaments. The mechanism of injury dictates which ligaments get injured, with the most common being inversion injuries causing anterior talofibular ligamentous sprain. Initial management of an ankle sprain consists of protection, rest, ice, compression and elevation. After the first 72 hours, the treatment depends on the severity of the sprain, with physiotherapy forming the mainstay of treatment in the majority of cases. In addition to strengthening exercises proprioceptive re-training helps with rehabilitation. The goal of treatment is to prevent chronic instability from occurring. Aside from syndesmotic injuries, surgical treatment is rarely required in the acute setting. Delayed ligamentous reconstruction may be required if chronic instability occurs, and is described as being an anatomic or non-anatomical reconstruction. This article reviews the anatomy, pathophysiology, clinical assessment and management of patients with ankle sprains.

Five historical innovations that have shaped modern cardiothoracic surgery (2024)

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Type of publication:
Journal article

Author(s):
Mainwaring E.; *Patel R.; Desai C.; Acharya R.; Raveshia D.; *Shah S.; *Panesar H.; Patel N.; Singh R.

Citation:
Journal of Perioperative Practice. 34(9):282-292, 2024 Sep.

Abstract:
Throughout history, many innovations have contributed to the development of modern cardiothoracic surgery, improving patient outcomes and expanding the range of treatment options available to patients. This article explores five key historical innovations that have shaped modern cardiothoracic surgery: cardiopulmonary bypass, surgical pacemakers, video assisted thoracic surgery, robotic surgery and mechanical circulatory support. We will review the development, impact and significance of each innovation, highlighting their contributions to the field of cardiothoracic surgery and their ongoing relevance in contemporary and perioperative practice.

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Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget's disease of bone (2024)

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Type of publication:Journal article

Author(s):Phillips, Jonathan; Subedi, Deepak; Lewis, Steff C; Keerie, Catriona; Cronin, Owen; Porteous, Mary; Moore, David; Cetnarskyj, Roseanne; Ranganath, Lakshminarayan; Selby, Peter L; Turgut, Tolga; Hampson, Geeta; Chandra, Rama; *Ho, Shu; Tobias, Jon; Young-Min, Steven; McKenna, Malachi J; Crowley, Rachel K; Fraser, William D; Tang, Jonathan C Y; Gennari, Luigi; Nuti, Rannuccio; Brandi, Maria Luisa; Del Pino-Montes, Javier; Devogelaer, Jean-Pierre; Durnez, Anne; Isaia, Giovanni Carlo; Di Stefano, Marco; Guanabens, Nuria; Blanch Rubio, Josep; Seibel, Markus J; Walsh, John P; Rea, Sarah L; Kotowicz, Mark A; Nicholson, Geoffrey C; Duncan, Emma L; Major, Gabor; Horne, Anne; Gilchrist, Nigel; Ralston, Stuart H.

Citation:Annals of the Rheumatic Diseases. 83(4):529-536, 2024 Mar 12.

Abstract:INTRODUCTION: Paget's disease of bone (PDB) frequently presents at an advanced stage with irreversible skeletal damage. Clinical outcomes might be improved by earlier diagnosis and prophylactic treatment. METHODS: We randomised 222 individuals at increased risk of PDB because of pathogenic SQSTM1 variants to receive 5 mg zoledronic acid (ZA) or placebo. The primary outcome was new bone lesions assessed by radionuclide bone scan. Secondary outcomes included change in existing lesions, biochemical markers of bone turnover and skeletal events related to PDB. RESULTS: The median duration of follow-up was 84 months (range 0-127) and 180 participants (81%) completed the study. At baseline, 9 (8.1%) of the ZA group had PDB lesions vs 12 (10.8%) of the placebo group. Two of the placebo group developed new lesions versus none in the ZA group (OR 0.41, 95% CI 0.00 to 3.43, p=0.25). Eight of the placebo group had a poor outcome (lesions which were new, unchanged or progressing) compared with none of the ZA group (OR 0.08, 95% CI 0.00 to 0.42, p=0.003). At the study end, 1 participant in the ZA group had lesions compared with 11 in the placebo group. Biochemical markers of bone turnover were significantly reduced in the ZA group. One participant allocated to placebo required rescue therapy with ZA because of symptomatic disease. The number and severity of adverse events did not differ between groups. CONCLUSIONS: Genetic testing for pathogenic SQSTM1 variants coupled with intervention with ZA is well tolerated and has favourable effects on the progression of early PDB. TRIAL REGISTRATION NUMBER: ISRCTN11616770.

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Five historical innovations that have shaped modern urological surgery (2024)

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Type of publication:Journal article

Author(s):*Patel, Ravi; Desai, Chaitya; Acharya, Radhika; Raveshia, Dimit; *Shah, Saumil; *Panesar, Harrypal; Patel, Neil; Singh, Rohit

Citation:Journal of Perioperative Practice. 34(5):154-163, 2024 May

Abstract:Throughout history, many innovations have contributed to the development of modern urological surgery, improving patient outcomes and expanding the range of treatment options available to patients. This article explores five key historical innovations that have shaped modern urological surgery: External shockwave lithotripsy, transurethral resection of prostate, cystoscope, perioperative prostate-specific antigen and robotic surgery. The selection of innovations for inclusion in this article was meticulously determined through expert consensus and an extensive literature review. We will review the development, impact and significance of each innovation, highlighting their contributions to the field of urological surgery and their ongoing relevance in contemporary and perioperative practice.

Accuracy of Radiomics in Predicting IDH Mutation Status in Diffuse Gliomas: A Bivariate Meta-Analysis (2024)

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Type of publication:Journal article

Author(s):Di Salle, Gianfranco; Tumminello, Lorenzo; Laino, Maria Elena; *Shalaby, Sherif; Aghakhanyan, Gayane; Fanni, Salvatore Claudio; Febi, Maria; Shortrede, Jorge Eduardo; Miccoli, Mario; Faggioni, Lorenzo; Cosottini, Mirco; Neri, Emanuele.

Citation:Radiology Artificial intelligence. 6(1):e220257, 2024 Jan [epub ahead of print]

Abstract:Purpose To perform a systematic review and meta-analysis assessing the predictive accuracy of radiomics in the noninvasive determination of isocitrate dehydrogenase (IDH) status in grade 4 and lower-grade diffuse gliomas. Materials and Methods A systematic search was performed in the PubMed, Scopus, Embase, Web of Science, and Cochrane Library databases for relevant articles published between January 1, 2010, and July 7, 2021. Pooled sensitivity and specificity across studies were estimated. Risk of bias was evaluated using Quality Assessment of Diagnostic Accuracy Studies-2, and methods were evaluated using the radiomics quality score (RQS). Additional subgroup analyses were performed according to tumor grade, RQS, and number of sequences used (PROSPERO ID: CRD42021268958). Results Twenty-six studies that included 3280 patients were included for analysis. The pooled sensitivity and specificity of radiomics for the detection of IDH mutation were 79% (95% CI: 76, 83) and 80% (95% CI: 76, 83), respectively. Low RQS scores were found overall for the included works. Subgroup analyses showed lower false-positive rates in very low RQS studies (RQS < 6) (meta-regression, z = -1.9; P = .02) compared with adequate RQS studies. No substantial differences were found in pooled sensitivity and specificity for the pure grade 4 gliomas group compared with the all-grade gliomas group (81% and 86% vs 79% and 79%, respectively) and for studies using single versus multiple sequences (80% and 77% vs 79% and 82%, respectively). Conclusion The pooled data showed that radiomics achieved good accuracy performance in distinguishing IDH mutation status in patients with grade 4 and lower-grade diffuse gliomas. The overall methodologic quality (RQS) was low and introduced potential bias.

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The impact of community teaching sessions on onward referral to specialist diabetic foot services (2024)

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Type of publication:Journal article

Author(s):Al-Saadi, Nina; *Beard, Nichola; Al-Hashimi, Khalid; Suttenwood, Helen; Wall, Michael; *Jones, Steven; Merriman, *Catherine

Citation:Primary care diabetes. 18(1):79-83, 2024 Feb.

Abstract:INTRODUCTION: Prompt referral of patients with diabetic foot ulceration (DFU) to specialist services can lead to more timely assessment of these patients and subsequent improved rates of limb salvage and patient outcomes. In this study we wanted to determine the impact of education in the primary care setting on onward referrals to our specialist Diabetic Foot multi-disciplinary team (MDT) clinic. METHODS: As part of a Diabetic Foot Roadshow, four teaching sessions were delivered in primary care settings across Shropshire by our specialist team from 17th March to the 25th May 2022. Attendees included podiatrists, tissue viability nurses, district nurses and wound care practitioners. Hospital records were used to identify all onward referrals to our Diabetic Foot MDT clinic in the weeks before and after delivery of the roadshow education sessions. RESULTS: 184 referrals were made to the diabetic foot clinic from January to July 2022. There were 0.3 referrals per day in the months prior to the commencement of the education sessions, compared to 1.5 referrals per day following the commencement of the teaching sessions. This increase in referrals was statistically significant (p < 0.0001). CONCLUSION: Teaching sessions delivered to community specialist healthcare professionals significantly increase onward referral of patients to specialist services, facilitating more timely assessment and management of patients with DFUs.