Exome sequencing directly implicates 68 genes in inflammatory bowel disease (2026)

Type of publication:

Journal article

Author(s):

Zhu, Ruifei; Zhang, Qian; Yuan, Kai; Zhang, Rui; Turvey, Alexandra K; Stevens, Christine R; Fachal, Laura; Ahmad, Tariq; Bel Kok, Klaartje; Bernstein, Charles N; Bokemeyer, Bernd; Brant, Steven R; Brooks, Johanne; *Butterworth, Jeffrey; Cho, Judy H; Clark, Katie; Cummings, Fraser; Duerr, Richard H; Ennis, Sarah; Farkkila, Martti; Faubion, William A; Foley, Stephen; Franchimont, Denis; Franke, Andre; Hancock, Laura; Hart, Ailsa; Hooper, Patricia; Irving, Peter; Jarvis, Mark; Johnston, Emma; Karlson, Elizabeth W; Kemp, Cheryl; Kennedy, Nick; Kupcinskas, Juozas; Lamb, Christopher A; Lees, Charlie; Lewis, James D; Li, Andy; Limdi, Jimmy; Loescher, Britt-Sabina; Louis, Edouard; McCauley, Jacob L; McGovern, Dermot P B; McLaughlin, John; Moayyedi, Paul; Moran, Gordon; Newberry, Rodney D; Oglesby, Arabis; Palotie, Aarno; Pekow, Joel; Perez, Kate J; Pollok, Richard; Prescott, Natalie; Raine, Tim; Ramadas, Arvind; Ramakrishnan, Subramaniam; Sabic, Ksenija; Sands, Bruce; Satsangi, Jack; Sazonovs, Aleksejs; Schreiber, Stefan; Selinger, Christian; Shedwell, Sophy; Silverberg, Mark S; Singh, Salil; Sokol, Harry; Steed, Helen; Steel, Alan; Uhlig, Holm H; Verma, Ajay; Vermeire, Severine; Weersma, Rinse K; Xavier, Ramnik J; Yu, Mingrui; Parkes, Miles; Rioux, John D; Daly, Mark J; Huang, Hailiang; Anderson, Carl A.

Citation:

MedRxiv : the Preprint Server for Health Sciences. 2026 May 20.

Abstract:

Inflammatory bowel disease (IBD) is a chronic immune-mediated disorder of the gastrointestinal tract whose genetic basis is only partly resolved because most risk variants identified by genome-wide association studies (GWAS) lie in non-coding regions, limiting direct gene assignment and biological interpretation1,2. Here we analysed whole-exome and whole-genome sequencing data from 86,213 IBD cases and 478,363 controls of European ancestry. We identified 68 IBD genes directly implicated by conditionally independent protein-coding associations across the allele frequency spectrum. Many newly implicated IBD genes are supported by orthogonal genomic or pleiotropic evidence, pointing to disease-related pathways and nominating targets with therapeutic relevance. We further identified allelic series and non-additive effects at key loci such as NOD2 and TYK2. These results show that large-scale sequencing can resolve disease genes and pathways that remain ambiguous from non-coding association alone, providing a more direct route from human genetics to biological insight and therapeutic hypotheses.

DOI: 10.64898/2026.05.08.26352648

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Examining perioperative factors in latex-allergic reactions (2026)

Type of publication:

Journal article

Author(s):

*Patel, Ravi; *Parmar, Dilen; *Bhojwani, Ajay; Singh, Rohit; Nandra, Rajpal; Banerjee, Robin.

Citation:

Journal of Perioperative Practice. 36(3):106-109, 2026 Mar.

Abstract:

Despite the implementation of latex-free gloves, the issue of natural rubber latex hypersensitivity persists within medical practice, posing challenges for both patients and health care professionals. A comprehensive understanding of the demographic groups susceptible to this condition is essential, along with the establishment of robust perioperative assessment and management protocols aimed at minimising complications and enhancing safety. This article endeavours to delve into the intricacies of perioperative management concerning latex hypersensitivity among patients, while also elucidating its ramifications for health care practitioners.

DOI: 10.1177/17504589241311106

Energy, flow and pressure in the cardiovascular system: a narrative review of how the circulation works (2026)

Type of publication:

Journal article

Author(s):

*Miller, Ashley; Kirk-Bayley, Justin; Peck, Marcus; Wilkinson, Jonathan.

Citation:

Anaesthesia. 81(10):1386-1399, 2026 Oct.

Abstract:

INTRODUCTION: Understanding what determines blood flow in the circulation is central to haemodynamic management in anaesthesia and critical care. Traditional teaching emphasises pressure-based concepts, such as preload; afterload; central venous pressure; and venous return curves. However, these frameworks generate confusion about causality and control. Interpreting pressure variables as drivers of flow has contributed to inconsistent physiological reasoning and potentially harmful treatment. This narrative review re-examines how blood flow is generated and regulated, integrating classical physiology with contemporary mechanisms and provides a coherent clinical framework.

METHODS: We performed a search of MEDLINE and Embase with key terms, supplemented by citation tracking. We also included seminal physiological studies.

RESULTS: The reviewed literature showed that blood flow is constrained by energy supply from the heart and pressure established by vascular volume, elastance and the impedance of the inflow pathway to the heart. Mean systemic pressure reflects potential energy stored within the compliant venous system but does not drive flow. Right atrial pressure and preload are dependent variables that report the equilibrium between venous return and cardiac function, but do not control flow. Starling's mechanism provides passive mechanical matching of inflow to outflow but does not regulate cardiac output actively. Resistance-based interpretations alone fail to account for the influence of compliance, impedance and pulsatility. Misinterpretation of graphical and algebraic representations, particularly venous return curves, has obscured these relationships.

DISCUSSION: We describe a unified physiological framework in which the heart supplies energy, vascular properties define what flow is possible, and pressures reflect system state rather than driving forces. This model reconciles historically opposing paradigms and clarifies the limits of pressure-targeted resuscitation. Clinically, it promotes assessing flow responsiveness and cardiac reserve over static pressure targets, and provides a mechanistic basis for contemporary shock management, thus avoiding interventions that increase congestion without improving perfusion.

DOI: 10.1111/anae.70238

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Cystic fibrosis in a septuagenarian (2026)

Type of publication:

Journal article

Author(s):

*Johnson, Jessie; *Ahmad, Nawaid

Citation:

BMJ Case Reports. 19(6), 2026 Jun 29.

Abstract:

Cystic fibrosis (CF) is traditionally regarded as a paediatric disorder, with over 75% of cases diagnosed before the age of 2 years. We describe the case of CF diagnosed in a man in his 70s following investigations prompted by an incidental finding of a pulmonary nodule and bronchiectasis onimaging. Further multidisciplinary assessmentraised the possibility of CF. The diagnosis was confirmed through elevated sweat chloride levels and CFTR genotyping identifying compound heterozygosity for F508delandR347H This case serves as a timely reminder, particularly for clinicians outside specialist CF services, to consider CF when the constellation of features is suggestive, irrespective of age. It highlights that practice around CF screening in adults with bronchiectasis varies between centres and invites reflection on whether more standardised approaches might help reduce diagnostic delay. For specialist readers, the case further underscores that genotype-phenotype correlations in CF do not always align with expected clinical patterns.

DOI: 10.1136/bcr-2025-271848

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Clinical outcome reporting in randomised controlled trials of remote obstetric antenatal monitoring: a systematic review (2026)

Type of publication:

Systematic review

Author(s):

Le Vance, Jack; Man, Rebecca; Adeoye, *Adekunle; Amaranathan, Sneha; Massey, Sian; Gurney, Leo; Morris, R Katie; Morton, Victoria Hodgetts

Citation:

European Journal of Obstetrics, Gynecology, & Reproductive Biology. 322:115122, 2026 Jun.

Abstract:

BACKGROUND: Over the last decade, remote technological initiatives for obstetric antenatal care have rapidly developed. However, variation in outcome reporting can preclude effective data synthesis. A remedy for this is to develop of a core outcome set (COS). However, prior to this, it is necessary to examine the heterogeneity of outcome reporting.

METHODS: MEDLINE, Embase, Cochrane Database of Clinical Trials (CENTRAL), Web of Science, and PubMed databases from January 2015 to November 2025. Randomised controlled trials (RCTs), RCT protocols or pilot RCTs which assessed any outcome for any type of remote monitoring device during the obstetric antenatal period were included. Study characteristics, outcomes definitions and timings were extracted and descriptively analysed.

RESULTS: Of the 4904 papers screen, 40 studies were included (24 full RCTs, 10 protocols and six pilot RCTs) The most common remote monitoring devices used, either in isolation or in combination, were blood pressure (n = 17, 42.5%) and blood glucose (n = 16, 40.0%). In total, 1004 verbatim outcomes were noted, categorised into 361 unique outcomes, across 72 domains. Outcome definition was heterogenous, with glycaemic monitoring demonstrating the largest variation, with 29 different definitions. Longer-term outcomes were infrequently reported, with fewer than 6% of all outcomes evaluating more than 3 months postpartum. Maternal remote monitoring devices were most commonly assessed, with 29 studies solely evaluating these devices. No single outcome was reported in all studies.

CONCLUSION: This review demonstrates a lack of consistent outcome reporting for trials examining remote antenatal monitoring devices. Consequently, the development of a COS is recommended.

DOI: 10.1016/j.ejogrb.2026.115122

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Apocrine Hidrocystoma of Foreskin: A Rare Benign Cystic Lesion (2026)

Type of publication:

Journal article

Author(s):

Han, Lin Aung; *Potter, Laura; *Bardapure, Mallikarjun.

Citation:

Cureus. 18(4):e107284, 2026 Apr.

Abstract:

Apocrine hidrocystoma is a benign cystic tumour arising from apocrine sweat glands. Its occurrence on the penile foreskin is exceedingly rare, representing an uncommon lesion of the external genitalia. A review of the literature suggests that only a limited number of cases -- approximately 13 involving external genitalia -- have been reported worldwide. We present the case of a 50-year-old gentleman who was referred to the urology service with a gradually enlarging, multiloculated, non-proliferative cyst arising from the foreskin. Patient underwent excisional biopsy with complete circumcision under local anaesthesia. Histopathology examination confirmed the diagnosis of apocrine hidrocystoma. Apocrine hidrocystomas are mostly located in the head and neck region, particularly the periorbital area, external auditory meatus, and axilla, with genital involvement being exceptionally uncommon. Complete surgical excision is both diagnostic and curative with a low risk of recurrence. Reports of apocrine hidrocystoma involving the foreskin remain scarce in the literature. To our knowledge, this represents the first reported case from Royal Shrewsbury Hospital.

DOI: 10.7759/cureus.107284

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An overview of cell salvage in orthopaedic hip and knee arthroplasty surgery (2026)

Type of publication:

Journal article

Author(s):

*Patel, Ravi; Golding, Steven; Nandra, Rajpal; Banerjee, Robin.

Citation:

Journal of Perioperative Practice. 36(4):186-191, 2026 Apr.

Abstract:

Blood management is a critical aspect of patient care during surgical procedures. In the United Kingdom, there is a growing recognition of the need to integrate intraoperative cell salvage into blood management protocols, especially for invasive surgeries where significant blood loss is anticipated. While donated blood (allogeneic blood) is traditionally used in such cases, it carries risks and potential complications. Consequently, intraoperative cell salvage presents itself as an appealing alternative, particularly in hip and knee arthroplasty procedures. Intraoperative cell salvage involves the collection and reinfusion of a patient's own blood (autologous blood) lost during surgery. Studies have consistently shown that autologous blood collected via intraoperative cell salvage has fewer complications and greater benefits compared to donated blood. However, despite these advantages, the widespread adoption of intraoperative cell salvage in UK hospitals remains limited, primarily due to associated costs. While the integration of intraoperative cell salvage into blood management services may incur initial expenses, research suggests that it could ultimately prove to be cost-effective. This is because improved patient outcomes associated with intraoperative cell salvage may lead to reduced postoperative complications and shorter hospital stays. Thus, there is a growing imperative to overcome financial barriers and promote the implementation of intraopertive cell salvage as a standard practice in perioperative care across UK health care settings. The purpose of this scoping literature review is to consolidate the available information on the current use of intraoperative cell salvage and to identify intraoperative cell salvage techniques and devices described for use in an arthroplasty setting.

DOI: 10.1177/17504589241293406

Link to full-text [NHS OpenAthens account required]

An Electromyographic Study Comparing Muscle Function During Supination and Pronation of the Forearm (2026)

Type of publication:

Journal article

Author(s):

Kondi, Suresh; *Murugesan, Thivagar; Postans, Neil; Thumri, Paavana; Kantamaneni, Ketan; Ansari, Shahbaz; Pickard, Simon.

Citation:

Cureus. 18(1):e101255, 2026 Jan.

Abstract:

BACKGROUND: Forearm pronation and supination are fundamental movements essential for daily activities and clinical applications. While supinator and biceps brachii contribute to supination, and pronator quadratus and pronator teres facilitate pronation, the precise activation patterns and torque-dependent recruitment strategies of these muscles remain incompletely understood. Conflicting evidence exists regarding muscle contribution at varying load conditions, with implications for rehabilitation protocols, surgical planning, and prosthetic design.

PURPOSE: This study aimed to quantify and compare the electromyographic (EMG) activity of forearm rotator muscles during isometric contraction under progressively increasing torque loads during both supination and pronation movements.

METHODS: Four healthy right-handed subjects (3 males, 1 female; mean age 32.5 years) underwent simultaneous EMG and motion capture recording. Surface electrodes captured activity from biceps brachii, triceps, pronator teres, and pronator quadratus, while fine-wire electrodes measured supinator muscle activity. Participants maintained a neutral forearm position against applied loads of 1 kilogram positioned at increasing distances (10-35 cm) from the supination axis, creating progressively higher torques. EMG signals were filtered, rectified, normalized, and analyzed using root mean square values across three trials per loading condition.

RESULTS: During supination resistance, the supinator demonstrated higher activation at lower torques compared to the biceps brachii. As applied torque increased, the biceps brachii activity increased proportionally more than the supinator, indicating load-dependent recruitment. Triceps showed increased co-activation for joint stability. During pronation resistance, the pronator quadratus exhibited greater activity at lower torques relative to the pronator teres. With increasing torque, the pronator teres demonstrated relatively greater activation increases than the pronator quadratus. Both movement patterns demonstrated progressive recruitment of multi-joint muscles as torque demands increased.

CONCLUSIONS: This pilot EMG study (n=4) provides preliminary descriptive evidence suggesting that supinator and pronator quadratus primarily govern low-torque forearm rotation, while biceps brachii and pronator teres become increasingly dominant during high-torque demands. These observed patterns are consistent with a hierarchical muscle recruitment strategy optimized for mechanical efficiency and joint stability. Understanding these activation patterns may have potential clinical applications for rehabilitation protocol design following nerve injury or tendon rupture, surgical planning for nerve transfer procedures, and development of myoelectric prosthetic control algorithms.

DOI: 10.7759/cureus.101255

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A worldwide perspective on chronic Achilles tendon rupture: An ESSKA AFAS survey initiative (2026)

Type of publication:

Journal article

Author(s):

Vide, Joao; Santos, Francisco; Dantas, Sofia; Seica, Emanuel; Caetano, Joao; Mendes, Daniel; Sousa, Manuel Resende; Anderson, Mette; Guelfi, Matteo; Hong, Choon Chiet; van Dijk, Pim; Spennacchio, Pietro; Cordier, Guillaume; van Dijk, Niek; Ling, Samuel; Hua, Yinghui; Vega, Jordi; Fernandes, Pedro; *Carmont, Michael.

Citation:

Knee Surgery, Sports Traumatology, Arthroscopy. 34(4):1452-1463, 2026 Apr.

Abstract:

PURPOSE: Management of chronic Achilles tendon ruptures (CATR) varies according to patient and injury characteristics, but clear guidelines regarding the evaluation and treatment options are still lacking. This study aims to identify tendencies regarding the evaluation and management of CATR among foot and ankle orthopaedic surgeons. The research question is if there is any tendency regarding evaluation, preoperative planning, choice of surgical approach and technique for management of CATR.

METHODS: A web-based questionnaire was distributed through 56 national and international foot and ankle orthopaedic societies. Replies were pooled and analysed. A 'main tendency' was considered when 75% of the participants chose the same treatment method, a 'tendency' for 50%-75%, and 'no tendency' when less than 50% choose the same method.

RESULTS: A total of 667 orthopaedic surgeons from 60 countries participated. Most respondents were experienced, specialised foot and ankle surgeons; however, 68% managed fewer than five CATR annually. MRI was the predominant imaging modality selected for surgical planning (88%). Gap size (80%) is the principal determinant of technique selection, followed by time from injury (61%) and then patient age (57%). Open repair was the most common technique (66%). End-to-end repair for defects <2 cm was the only treatment tendency (68%). Rehabilitation strategies were heterogeneous, though plaster immobilisation in equinus (55%), walker boot use for partial weight-bearing (90%), and physiotherapy initiation at 4-6 weeks following surgery were common tendencies. Compared with acute ruptures, functional outcomes were perceived as slightly worse in CATR (54%).

CONCLUSION: This study confirms significant variation in CATR management internationally. While end-to-end repair is a consistent choice for gaps smaller than 2 cm, the variability observed in responses reflects the lack of evidence and clear treatment algorithms.

LEVEL OF EVIDENCE: Level IV.

DOI: 10.1002/ksa.70327

A Multicomponent Intervention to Improve Maternal Infection Outcomes (2026)

Type of publication:

Journal article

Author(s):

Lissauer, David; Gadama, Luis; Waitt, Catriona; Whyte, Sonia; Burnside, Girvan; Anilkumar, Aiswarya; Makuluni, Regina; Okwaro, Peace; Yang, Liu; Waitt, Peter; Musopole, Owen; Bilesi, Rosemary; Maseko, Bertha; Lwasa, Joel; Mugahi, Richard; Olaro, Charles; Lamorde, Mohammed; Makuta, Mirriam; Kachiwaya, Chimwemwe; Mkandawire, Tionge; Malunga, Adrian; Chitsulo, Nyadani; Abitimo, Prisca; Ayabo, Tabitha; Weeks, Andrew; Martin, James; Hemming, Karla; Gallos, Ioannis; Monk, Edward J M; Riches, Jennifer; Chapuma, Chikondi; Nanyondo S, Judith; Lorencatto, Fabiana; Monahan, Mark; Allegranzi, Benedetta; Dunlop, Catherine; Atkins, Lou; Rosala-Hallas, Anna; Roberts, Tracy; Gamble, Carrol; Malata, Address; Desmond, Nicola; Kommwa, Edward; Merriel, Abi; *Parry-Smith, William; Smith, Rebecca; Ndumu, Ivy; Williams, Eleanor; Faque, Bob; Banda, Gertrude; Nyondo-Mipando, Alinane L; Twimukye, Adelline; Chater, Tim; Diplas, Aristotelis; Brizuela, Vanessa; Souza, Joao Paulo; Rylance, Jamie; Cheshire, James; Hawker, Lydia; Coomarasamy, Arri; Bonet, Mercedes.

Citation:

New England Journal of Medicine. 394(17):1685-1695, 2026 Apr 30.

Abstract:

BACKGROUND: Maternal infection and sepsis are major causes of maternal death and severe illness worldwide, particularly in low- and middle-income countries. Inconsistent implementation of evidence-based recommendations for infection prevention and management and delays in detection and treatment of maternal sepsis contribute to the number of preventable deaths.

METHODS: We conducted a cluster-randomized trial to assess a multicomponent intervention, the Active Prevention and Treatment of Maternal Sepsis (APT-Sepsis) program. This program was designed to support health care providers in achieving three goals: adherence to World Health Organization (WHO) hand-hygiene standards; adoption of evidence-based practices for maternal infection prevention and management; and early detection of sepsis and use of the FAST-M (fluids, antibiotics, source control, transfer if required, and monitoring) treatment bundle. Usual care was provided in the control group, along with dissemination of guidelines. The primary outcome was a composite of infection-related maternal death, infection-related near-miss event (events in which women survived a life-threatening complication), or severe infection-related illness (deep surgical-site, deep perineal, or body-cavity infection) among women who were pregnant or had recently been pregnant.

RESULTS: We randomly assigned 59 health facilities (where 431,394 women gave birth during the trial) in Malawi and Uganda to the intervention group (30 clusters) or the usual-care group (29 clusters). A primary-outcome event occurred in 1.4% of the patients in the intervention group and in 1.9% of those in the usual-care group (risk ratio, 0.68; 95% confidence interval, 0.55 to 0.83; P<0.001). This effect was generally consistent between countries and among facilities of difference sizes and was sustained over time.

CONCLUSIONS: Implementation of the APT-Sepsis program led to a significantly lower risk of a composite of infection-related maternal death, infection-related near-miss event, or severe infection-related illness than usual care. (Funded by the Joint Global Health Trials scheme and others; APT-Sepsis ISRCTN number, ISRCTN42347014.).

DOI: 10.1056/NEJMoa2512698