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1.
Front Pediatr ; 12: 1380502, 2024.
Article in English | MEDLINE | ID: mdl-38699154

ABSTRACT

Introduction: Bladder profile in boys with Posterior Urethral Valves can be very varied with a spectrum going from high pressure, unstable, hypocompliant small bladders to hypercompliant, large acontractile bladders, with some being near-normal. Our question was whether appearance, specifically of the bladder, on initial VCUG was correlated to prenatal features and whether it could predict early postnatal outcome. Method: We used a prospectively gathered database of boys with prenatally suspected PUV. We analyzed whether the appearance, specifically of the bladder, was related to date of prenatal diagnosis, presence of a megacystis on prenatal ultrasound, presence of vesico-ureteral reflux (VUR), presence of abnormal DMSA scan, nadir creatinine or presence of febrile urinary tract infection (fUTI) during the first two years of life. Results: The database comprised 90 cystograms. 15% of bladders were judged normal/regular, 54 % were small/diverticular and 31% were large/diverticular. Bladder appearance was not associated with presence of prenatal megacystis, abnormal DMSA scan, VUR, nor rate of fUTI. The only significant associations were normal/regular bladder and early prenatal diagnosis (p = 0.04) and normal/regular bladder and elevated nadir creatinine (>75µmol/l) (p = 0.01). Discussion: We believe that when focusing solely on the appearance of the bladder, excluding information about the urethra and presence of reflux, the cystogram alone is insufficient to inform on future bladder function. This could be used as an argument in favor of performing early urodynamics in this population.

3.
Scand J Med Sci Sports ; 34(2): e14580, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38339789

ABSTRACT

The high cognitive and/or emotional demands of competition can lead to a state of mental fatigue which has shown to be detrimental to soccer performance. However, there is a need to further understand the true mental demands of soccer players. The aim of the present study was to analyze the influence of motivation and the perceived requirements of the next match on mental fatigue perceived by soccer players over the passing of a season. The combined effect of both variables on the perception of mental fatigue, as well as the influence of the time of the season on perceived mental fatigue, were also analyzed. Twenty-six semi-professional Spanish male players (M = 26.31 ± 5.18 years) participated in the present study, conducted during the 2020-2021 season. Perceived mental fatigue and motivation were measured at each training session. The perceived requirements of the next match were also measured in each of the competitive weeks. Linear mixed models were run with R Studio to examine the influence of motivation and the perceived difficulty of the next match on perceived mental fatigue, the combined effect of both variables on perceived mental fatigue, and the influence of the passing of the season on perceived mental fatigue. The results showed a negative and significant influence of motivation on perceived mental fatigue (p < 0.001) and a positive and significant influence of the perceived requirements of the next match on perceived mental fatigue (p < 0.001). Regarding the combined effect, there was a positive and significant effect (p < 0.01) of the perceived difficulty of the next match on the relation between motivation and perceived mental fatigue. A negative influence of season passage on perceived mental fatigue levels was found (p < 0.001). We recommended coaches to consider using the most motivating training tasks when higher next-match requirements are perceived and to be careful with avoidance strategies for mental fatigue, especially at the beginning of the season.


Subject(s)
Athletic Performance , Soccer , Humans , Male , Motivation , Soccer/psychology , Physical Exertion , Seasons , Mental Fatigue , Athletic Performance/psychology
4.
Appl Physiol Nutr Metab ; 48(12): 932-945, 2023 Dec 01.
Article in English | MEDLINE | ID: mdl-37556856

ABSTRACT

High-intensity interval training (HIIT) is an effective alternative to moderate intensity continuous training for improvements in body composition and aerobic capacity; however, there is little work comparing different modalities of HIIT. The purpose of this study was to compare the effects of plyometric- (PLYO) and cycle-oriented (CYC) HIIT on body composition, aerobic capacity, and skeletal muscle size, quality, and function in recreationally trained females. Young (21.7 ± 3.1 yrs), recreationally active females were quasi-randomized (1:1 ratio) to 8 weeks of twice weekly PLYO (n = 15) or CYC (n = 15) HIIT. Body composition (four-compartment model), VO2peak, countermovement jump performance, muscle size, and echo intensity (muscle quality), as well as strength and power of the knee extensors and plantar flexors were measured before and after training. Both groups showed a similar decrease in body fat percentage (p < 0.001; η p 2   = 0.409) and echo intensity (p < 0.001; η p 2 = 0.558), and an increase in fat-free mass (p < 0.001; η p 2   = 0.367) and VO2peak (p = 0.001; η p 2 = 0.318). Muscle size was unaffected (p > 0.05), whereas peak torque was reduced similarly in both groups (p = 0.017; η p 2 = 0.188) and rapid torque capacity was diminished only for the knee extensors after CYC (p = 0.022; d = -0.67). These results suggest that PLYO and CYC HIIT are similarly effective for improving body composition, aerobic capacity, and muscle quality, whereas muscle function may express moderate decrements in recreationally active females. ClinicalTrials.gov (NCT05821504).


Subject(s)
High-Intensity Interval Training , Humans , Female , High-Intensity Interval Training/methods , Exercise/physiology , Body Composition/physiology , Muscle, Skeletal , Exercise Tolerance
5.
J Pediatr Urol ; 19(3): 323-324, 2023 06.
Article in English | MEDLINE | ID: mdl-36653199

ABSTRACT

In this short educational communication the ESPU Research Committee presents the role of non-coding RNA and how these can affect gene expression. In particular we discuss the role of microRNA on post transcriptional changes and how these may cause pathological conditions within Pediatric Urology and how microRNA could be useful in future clinical practice.


Subject(s)
MicroRNAs , Child , Humans , MicroRNAs/genetics , MicroRNAs/metabolism , Gene Expression
6.
Surg Endosc ; 37(4): 2682-2687, 2023 04.
Article in English | MEDLINE | ID: mdl-36414870

ABSTRACT

BACKGROUND: Low-grade vesicoureteral-reflux (VUR) are rather treated by endoscopic injection, whereas open or laparoscopic procedures are mainly performed for high-grade VURs. Management of intermediate grades is controversial and no study focused on grade III to date. This study aims to compare the results of open, laparoscopic, and endoscopic approaches in children with grade III VUR. METHODS: A multicenter comparative retrospective study included children with grade III VUR operated for febrile urinary tract infections (UTIs) from 2007 to 2016. Children without UTI, with reflux of other grades, neurological bladder, duplex system, posterior urethral valves, and bladder exstrophy were excluded. Success was defined as no recurrence of febrile UTI and was presented as event-free survival curves. RESULTS: Out of 806 children operated of VUR, 171 met the inclusion criteria (114 females). Seventy-seven children (45%) underwent an open Cohen procedure, 35 (21%) a laparoscopic Lich-Gregoir and 59 (34%) a submucosal endoscopic injection according to the centers' preference. The mean follow-up was 64 months (24-132). Groups were not different for age, sex, and circumcision status. Compared to Cohen procedure, recurrences of febrile UTI were more frequent after laparoscopic treatment (p = 0,02, 8/35) and endoscopic treatment (p = 0.001, 16/59). Redosurgery was also more frequent after laparoscopy (n = 2) and endoscopic injection (n = 14) than after open surgery (n = 0, p < 0.001). CONCLUSION: Recurrent febrile UTIs and redosurgery are more frequent after endoscopic and laparoscopic procedures in grade III VUR than open reimplantation. Whether the lower morbidity of laparoscopic or endoscopic approaches balances the risk of recurrent febrile UTI remains to be determined for intermediate grade reflux.


Subject(s)
Laparoscopy , Vesico-Ureteral Reflux , Male , Female , Child , Humans , Vesico-Ureteral Reflux/surgery , Retrospective Studies , Urinary Bladder
7.
Front Pediatr ; 10: 1014422, 2022.
Article in English | MEDLINE | ID: mdl-36330367

ABSTRACT

Introduction: Posterior urethral valves are urethral leaflets that cause Lower Urinary Tract Obstruction (LUTO) in boys and are associated with congenital renal dysplasia and abnormal bladder function. They affect 1:4,000 to 1:25,000 births and can be responsible for End-Stage Renal Failure in childhood. There have been several studies on the effect of pop-off mechanisms in boys with posterior urethral valves, but results are contradictory. We aimed to assess and discuss the effect of pop-off mechanisms on renal function in a large cohort of patients. Patients and method: Boys with PUV with and without pop-off mechanisms (urinoma, VURD or giant bladder diverticula) were divided into three severity groups for renal function according to their nadir creatinine (low-risk NC < 35 µmol/L, intermediate-risk NC between 35 and 75 µmol/L, and high-risk NC > 75 µmol/L). We compared children with and children without pop-off mechanisms for mean renal function as well as patient distribution within each severity group. Results: We included 137 boys of which 39 had a pop-off mechanism. Patients had complete data for at least 5 years follow-up. Though there was no significant statistical difference in mean renal function between the pop-off and non-pop-off group, patient distribution within each severity group varied according to whether patients had a pop-off mechanism or not. Conclusion: Though there was no significant difference in mean renal function between boys with and without pop-off mechanisms, it is possible that these are two different patient populations and direct comparison is not possible.

8.
Ann Clin Transl Neurol ; 9(9): 1459-1464, 2022 09.
Article in English | MEDLINE | ID: mdl-36000540

ABSTRACT

Neuronavigated transcranial magnetic stimulation (nTMS) has emerged as a presurgical language mapping tool distinct from the widely used functional magnetic resonance imaging (fMRI). We report fMRI and nTMS language-mapping results in 19 pediatric-epilepsy patients and compare those to definitive testing by electrical cortical stimulation, Wada test, and/or neuropsychological testing. Most discordant results occurred when fMRI found right-hemispheric language. In those cases, when nTMS showed left-hemispheric or bilateral language representation, left-hemispheric language was confirmed by definitive testing. Therefore, we propose nTMS should be considered for pediatric presurgical language-mapping when fMRI shows right-hemispheric language, with nTMS results superseding fMRI results in those scenarios.


Subject(s)
Epilepsy , Language , Adolescent , Brain Mapping/methods , Child , Humans , Magnetic Resonance Imaging/methods , Transcranial Magnetic Stimulation/methods
9.
Arthritis Res Ther ; 24(1): 192, 2022 08 10.
Article in English | MEDLINE | ID: mdl-35948984

ABSTRACT

BACKGROUND: Venous thromboembolism (VTE) is a common complication in patients with anti-neutrophil cytoplasm antibody (ANCA)-associated vasculitides (AAV) and confers significant morbidity and mortality. Both acute and past cytomegalovirus (CMV) infection have been identified as risk factors for VTE in immunocompetent and immunosuppressed individuals. Here, we examine whether past exposure to CMV is a risk factor for VTE amongst patients with AAV. METHODS: We retrospectively analysed outcomes of patients with a new diagnosis of AAV from a UK cohort. All confirmed cases of VTE where CMV IgG serology was available were recorded. Retrospective collection of the same data for patients at a North American centre was used as a validation cohort. RESULTS: VTE was common with 12% of patients from the study cohort (total 259 patients) developing an event during the median follow-up period of 8.5 years of which 60% occurred within the first 12 months following diagnosis. Sixteen percent of CMV seropositive patients developed a VTE compared with 5% of patients who were seronegative (p = 0.007) and CMV seropositivity remained an independent predictor of VTE in multivariable analysis (HR 2.96 [1.094-8.011] p = 0.033). CMV seropositivity at diagnosis was confirmed as a significant risk factor for VTE in the American validation cohort (p = 0.032). CONCLUSIONS: VTE is common in patients with AAV, especially within the first year of diagnosis. Past infection with CMV is an independent risk factor associated with VTE in AAV.


Subject(s)
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis , Cytomegalovirus Infections , Venous Thromboembolism , Cytomegalovirus , Cytomegalovirus Infections/complications , Cytomegalovirus Infections/diagnosis , Cytomegalovirus Infections/epidemiology , Humans , Retrospective Studies , Risk Factors , Venous Thromboembolism/diagnosis , Venous Thromboembolism/epidemiology , Venous Thromboembolism/etiology
10.
Philos Trans A Math Phys Eng Sci ; 380(2232): 20210340, 2022 Sep 19.
Article in English | MEDLINE | ID: mdl-35909361

ABSTRACT

The present paper investigates the impact behaviour of both pristine carbon-fibre-reinforced-plastic (CFRP) composite laminates and repaired CFRP laminates. For the patch-repaired CFRP specimen, the pristine CFRP panel specimen has been damaged by cutting out a central disc of the CFRP material and then repaired using an adhesively bonded patch of CFRP to cover the hole. Drop-weight, impact tests are performed on these two types of specimens and a numerical elastic-plastic, three-dimensional damage model is developed and employed to simulate the impact behaviour of both types of specimen. This numerical model is meso-scale in nature and assumes that cracks initiate in the CFRP at a nano-scale, in the matrix around fibres, and trigger sub-micrometre intralaminar matrix cracks during the impact event. These localized regions of intralaminar cracking then lead to interlaminar, i.e. delamination, cracking between the neighbouring plies which possess different fibre orientations. These meso-scale, intralaminar and interlaminar, damage processes are modelled using the numerical finite-element analysis model with each individual ply treated as a continuum. Good agreement is found between the results from the experimental studies and the predictions from the numerical simulations. This article is part of the theme issue 'Nanocracks in nature and industry'.

11.
J Cent Nerv Syst Dis ; 14: 11795735221088522, 2022.
Article in English | MEDLINE | ID: mdl-35572122

ABSTRACT

Background: Low frequency (≤1 Hz) repetitive transcranial magnetic stimulation (rTMS) has been shown to suppress cortical excitability and is beginning to be trialed for the treatment of refractory epilepsy. Purpose: As a step toward a larger trial, the current pilot study was aimed to test the tolerability and safety of temporal lobe rTMS using H-coil for the treatment of temporal lobe epilepsy (TLE). Research Design: 1800 pulses of active or sham rTMS were applied 5  days a week for 2 weeks over the temporal lobe of the affected hemisphere. Results: Nine participants were enrolled and randomized to verum or sham stimulation. One participant dropped out from the sham group after 5 rTMS sessions. In-session, 3 patients had typical seizures during sham stimulation. One patient had seizures also during active stimulation (albeit fewer than during sham). Minor reported adverse events during stimulation otherwise included transient neck pain and headache, and were reported in equal numbers in both groups. Major adverse events were not reported. Our results indicate that H-coil rTMS was well-tolerated. Conclusion: Given the relatively high prevalence of individuals with TLE who are treatment-resistant and the preliminary results of this study, we suggest that a larger safety and efficacy trial of 1 Hz rTMS for the treatment of TLE is warranted.

13.
J Pediatr Urol ; 18(2): 186.e1-186.e4, 2022 04.
Article in English | MEDLINE | ID: mdl-35184944

ABSTRACT

INTRODUCTION: Posterior urethral valves (PUV) cause lower urinary tract obstruction leading to increased intravesical pressure during fetal urinary tract development. Though the bladder and kidneys are separate organs, with different embryological origins, they are complementary and influence each other both before and after birth. We aimed to assess the relationship between renal and bladder function in boys with PUV and whether early renal markers could predict future bladder function. PATIENTS AND METHODS: We included all boys with prenatally suspected lower urinary tract obstruction, born between 2000 and 2013, in two University Hospitals, with at least 5 years follow-up. We excluded patients who presented a Lower Urinary Tract Obstruction other than PUV, children who presented multiple birth defects and neonatal deaths and those with incomplete long-term renal or bladder function data. We included data on nadir creatinine (NC), long-term renal function and long-term bladder function (defined by Uroflow parameters). Boys with PUV were divided into three severity groups for renal function according to their NC and three severity groups for bladder function as determined by Uroflow. RESULTS: We included 73 boys. Average nadir creatinine was 43.4 ± 26.1 µmol/L. Twenty-nine boys (49.3%) presented a NC < 35 µmol/L, thirty-eight (52.1%) a NC between 35 and 75 µmol/L, and 6 (8.2%) a NC > 75 µmol/L. Thirty-eight (52.1%) presented normal bladder function, 23 (31.5%) presented moderately impaired bladder function and 12 (16.4%) presented severely impaired bladder function. 41.4% of boys with NC < 35 had abnormal bladder function vs 46.2% of those with an NC between 35 and 75 µmol/L and 83.3% of boys with NC > 75 µmol/L. Nadir creatinine both predicted both bladder function and renal status (table 1). Correlation between presence of grade 3-5 CKD and poor uroflow was also significant (p < 0.005). DISCUSSION: Nadir creatinine was significantly correlated to bladder function at 5 years of age. What this study suggests is that as nadir creatinine increases so does the risk of severe bladder dysfunction. Our results, though limited to flowmeter and renal function, could help pediatric urologist tailor bladder function monitoring, and indicate which patients could benefit from more aggressive bladder therapy. CONCLUSION: Bladder and renal function are linked in boys with posterior urethral valves. Boys with high nadir creatinine could benefit from early bladder function evaluation and management.


Subject(s)
Urethral Diseases , Urethral Obstruction , Child , Creatinine , Humans , Infant, Newborn , Male , Retrospective Studies , Urethra/abnormalities , Urinary Bladder
15.
Acta Chir Belg ; 122(1): 63-66, 2022 Feb.
Article in English | MEDLINE | ID: mdl-32253993

ABSTRACT

An 11-year-old boy presented with pain in the right knee, intermittent reverse ischemia of the right foot and paraesthesia of the right toes. An angio-CT showed a false aneurysm of the right superior popliteal artery, and a solitary osteochondroma of the posterior aspect of the distal femur. Excision of the aneurysm and the osteochondroma was performed in two-stages. The patient was clinically well at 1-year follow up.


Subject(s)
Aneurysm, False , Bone Neoplasms , Osteochondroma , Aneurysm, False/diagnostic imaging , Aneurysm, False/etiology , Child , Femur , Humans , Male , Osteochondroma/diagnosis , Osteochondroma/diagnostic imaging , Popliteal Artery/diagnostic imaging , Popliteal Artery/surgery
16.
BJOG ; 129(3): 473-483, 2022 02.
Article in English | MEDLINE | ID: mdl-34605130

ABSTRACT

OBJECTIVE: To define patterns of prescription and factors associated with choice of pharmacotherapy for gestational diabetes mellitus (GDM), namely metformin, glyburide and insulin, during a period of evolving professional guidelines. DESING: Cross-sectional study. SETTING: US commercial insurance beneficiaries from Market-Scan (late 2015 to 2018). STUDY DESIGN: We included women with GDM, singleton gestations, 15-51 years of age on pharmacotherapy. The exposure was pharmacy claims for metformin, glyburide and insulin. MAIN OUTCOMES: Pharmacotherapy for GDM with either oral agent, metformin or glyburide, compared with insulin as the reference, and secondarily, consequent treatment modification (addition and/or change) to metformin, glyburide or insulin. RESULTS: Among 37 762 women with GDM, we analysed data from 10 407 (28%) with pharmacotherapy, 21% with metformin (n = 2147), 48% with glyburide (n = 4984) and 31% with insulin (n = 3276). From late 2015 to 2018, metformin use increased from 17 to 29%, as did insulin use from 26 to 44%, whereas glyburide use decreased from 58 to 27%. By 2018, insulin was the most common pharmacotherapy for GDM; metformin was more likely to be prescribed by 9% compared with late 2015/16, but glyburide was less likely by 45%. Treatment modification occurred in 20% of women prescribed metformin compared with 2% with insulin and 8% with glyburide. CONCLUSIONS: Insulin followed by metformin has replaced glyburide as the most common pharmacotherapy for GDM among a privately insured US population during a time of evolving professional guidelines. Further evaluation of the relative effectiveness and safety of metformin compared with insulin is needed. TWEETABLE ABSTRACT: Insulin followed by metformin has replaced glyburide as the most common pharmacotherapy for gestational diabetes mellitus in the USA.


Subject(s)
Diabetes, Gestational/drug therapy , Drug Prescriptions/statistics & numerical data , Hypoglycemic Agents/therapeutic use , Practice Patterns, Physicians'/statistics & numerical data , Prenatal Care/statistics & numerical data , Adolescent , Adult , Cross-Sectional Studies , Female , Glyburide/therapeutic use , Humans , Insulin/therapeutic use , Metformin/therapeutic use , Middle Aged , Pregnancy , United States , Young Adult
17.
J Clin Neurophysiol ; 39(2): 135-148, 2022 Feb 01.
Article in English | MEDLINE | ID: mdl-34366399

ABSTRACT

SUMMARY: Transcranial magnetic stimulation (TMS) is a method for focal brain stimulation that is based on the principle of electromagnetic induction where small intracranial electric currents are generated by a powerful fluctuating magnetic field. Over the past three decades, TMS has shown promise in the diagnosis, monitoring, and treatment of neurological and psychiatric disorders in adults. However, the use of TMS in children has been more limited. We provide a brief introduction to the TMS technique; common TMS protocols including single-pulse TMS, paired-pulse TMS, paired associative stimulation, and repetitive TMS; and relevant TMS-derived neurophysiological measurements including resting and active motor threshold, cortical silent period, paired-pulse TMS measures of intracortical inhibition and facilitation, and plasticity metrics after repetitive TMS. We then discuss the biomarker applications of TMS in a few representative neurodevelopmental disorders including autism spectrum disorder, fragile X syndrome, attention-deficit hyperactivity disorder, Tourette syndrome, and developmental stuttering.


Subject(s)
Autism Spectrum Disorder , Motor Cortex , Adult , Biomarkers , Child , Evoked Potentials, Motor , Humans , Transcranial Magnetic Stimulation
18.
Scand J Rheumatol ; 51(2): 135-141, 2022 Mar.
Article in English | MEDLINE | ID: mdl-34474634

ABSTRACT

OBJECTIVES: The use of rituximab (MabThera®), an anti-CD20 monoclonal antibody, is the most significant development in the management of anti-neutrophil cytoplasm antibody (ANCA)-associated vasculitis (AAV) since the introduction of cytotoxic therapy in 1950. Truxima® is the first anti-CD20 biosimilar approved for the same indications, and has been available in the UK since 2017. Significant cost savings have been reported when switching to biosimilars, which could lead to greater patient access to such treatment. Therefore, it is important to know whether patients' clinical and laboratory parameters respond equally well to biosimilars as to reference medicines, tested in clinical trials. METHOD: We retrospectively reviewed the clinical outcomes and laboratory parameters in 257 consecutive patients treated with anti-CD20 depletion therapy using MabThera or Truxima, for induction and maintenance of remission, in two tertiary renal centres between 2010 and 2019. RESULTS: We demonstrated no difference between patients treated with MabThera or Truxima in rates of remission, relapse, and hospitalization with infection when used for either induction or maintenance of remission of AAV. In one hospital subgroup analysis, we showed comparable levels of hypogammaglobulinaemia, B-cell depletion, and frequency of infusion reactions, with no significant differences. CONCLUSION: The efficacy and safety of the rituximab biosimilar Truxima are not inferior to the originator MabThera in patients with AAV. Truxima represents a cheaper and safe therapeutic alternative that could increase patient access to rituximab.


Subject(s)
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis , Biosimilar Pharmaceuticals , Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/drug therapy , Biosimilar Pharmaceuticals/adverse effects , Humans , Recurrence , Remission Induction , Retrospective Studies , Rituximab/adverse effects
19.
Prog Urol ; 31(16): 1090-1092, 2021 Dec.
Article in French | MEDLINE | ID: mdl-34210602

ABSTRACT

INTRODUCTION: The objective of this study was to propose a French version of the Index of Sexual Satisfaction (ISS). MATERIAL AND METHOD: The translation from English to French of the ISS was performed independently by three pediatric surgeons whose mother tongue is French. Then, an English speaker, fluent in French, who was unaware of the original questionnaire, translated the reconciled French version of the ISS into English. RESULTS: The final French version was successfully tested on 25 French-speaking volunteers. CONCLUSION: We present a validated translation of the Sexual Satisfaction Index.


Subject(s)
Orgasm , Translations , Child , Humans , Linguistics , Psychometrics , Reproducibility of Results , Surveys and Questionnaires
20.
Cancers (Basel) ; 13(13)2021 Jun 22.
Article in English | MEDLINE | ID: mdl-34206538

ABSTRACT

PARP inhibitors are currently approved for a limited number of cancers and targetable mutations in DNA damage repair (DDR) genes. In this single-institution retrospective study, the profiles of 170 patients with head and neck squamous cell cancer (HNSCC) and available tumor tissue DNA (tDNA) and circulating tumor DNA (ctDNA) results were analyzed for mutations in a set of 18 DDR genes as well as in gene subsets defined by technical and clinical significance. Mutations were correlated with demographic and outcome data. The addition of ctDNA to the standard tDNA analysis contributed to identification of a significantly increased incidence of patients with mutations in one or more genes in each of the study subsets of DDR genes in groups of patients older than 60 years, patients with laryngeal primaries, patients with advanced stage at diagnosis and patients previously treated with chemotherapy and/or radiotherapy. Patients with DDR gene mutations were found to be significantly less likely to have primary tumors within the in oropharynx or HPV-positive disease. Patients with ctDNA mutations in all subsets of DDR genes analyzed had significantly worse overall survival in univariate and adjusted multivariate analysis. This study underscores the utility of ctDNA analysis, alone, and in combination with tDNA, for defining the prevalence and the role of DDR gene mutations in HNSCC. Furthermore, this study fosters research promoting the utilization of PARP inhibitors in HNSCC precision oncology treatments.

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