Computational Model Based on Optical Coherence Tomography (OCT) Skin Scanning to Identify and Quantify Acute Radiation Dermatitis (ARD): A Prospective Diagnostic Study.

BACKGROUND: acute radiation dermatitis (ARD) is the most widely reported radiotherapy-induced adverse event. Currently, there is no objective or reliable method to measure ARD. OBJECTIVE: our main objective was to identify and quantify the effects of radiotherapy with a computational model using optical coherence tomography (OCT) skin scanning. Secondary objectives included determining the ARD impact of different radiotherapeutic schemes and adjuvant topical therapies. METHODS: we conducted a prospective, single-center case series study in a tertiary referral center of patients with breast cancer who were eligible for whole breast radiotherapy (WBRT). RESULTS: a total of 39 women were included and distributed according to the radiotherapeutic schemes (15, 20, and 25 fractions). A computational model was designed to quantitatively analyze OCT findings. After radiotherapy, OCT scanning was more sensitive revealing vascularization changes in 84.6% of the patients (vs 69.2% of the patients with ARD by clinical examination). OCT quantified an increased vascularization at the end of WBRT (P < .05) and a decrease after 3 months (P = .032). Erythematous skin changes by OCT were more pronounced in the 25-fraction regime. CONCLUSION: an OCT computational model allowed for the identification and quantification of vascularization changes on irradiated skin, even in the absence of clinical ARD. This may allow the design of standardized protocols for ARD beyond the skin color of the patients involved.

Faecal immunochemical tests can improve colonoscopy triage in patients with iron deficiency: A systematic review and meta-analysis.

BACKGROUND: Use of the faecal immunochemical test (FIT) to triage patients with iron deficiency (ID) for colonoscopy due to suspected colorectal cancer (CRC) may improve distribution of colonoscopic resources. We reviewed the diagnostic performance of FIT for detecting advanced colorectal neoplasia, including CRC and advanced pre-cancerous neoplasia (APCN), in patients with ID, with or without anaemia. METHODS: We performed a systematic review of three databases for studies comprising of patients with ID, with or without anaemia, completing a quantitative FIT within six months prior to colonoscopy, where test performance was compared against the reference standard colonoscopy. Random effects meta-analyses determined the diagnostic performance of FIT for advanced colorectal neoplasia. RESULTS: Nine studies were included on a total of n=1761 patients with ID, reporting FIT positivity thresholds between 4-150 µg haemoglobin/g faeces. Only one study included a non-anaemic ID (NAID) cohort. FIT detected CRC and APCN in ID patients with 90.7 % and 49.3 % sensitivity, and 81.0 % and 82.4 % specificity, respectively. FIT was 88.0 % sensitive and 83.4 % specific for CRC in patients with ID anaemia at a FIT positivity threshold of 10 µg haemoglobin/g faeces. CONCLUSIONS: FIT shows high sensitivity for advanced colorectal neoplasia and may be used to triage those with ID anaemia where colonoscopic resources are limited, enabling those at higher risk of CRC to be prioritised for colonoscopy. There is a need for further research investigating the diagnostic performance of FIT in NAID patients.

Unraveling the clinicopathological and molecular changes induced by neoadjuvant chemotherapy and endocrine therapy in hormone receptor-positive/HER2-low and HER2-0 breast cancer.

BACKGROUND: The characterization and comparison of gene expression and intrinsic subtype (IS) changes induced by neoadjuvant chemotherapy (NACT) and endocrine therapy in hormone receptor-positive (HR+)/human epidermal growth factor receptor 2 (HER2)-low versus HR+/HER2-0 breast cancer (BC) has not been conducted so far. Most evidence on the association of HER2 status with pathologic responses and prognosis in HR+/HER2-negative BC is controversial and restricted to NACT-treated disease. Similarly, a temporal heterogeneity in HER2 status has been described only with NACT. METHODS: We retrospectively recruited a consecutive cohort of 186 patients with stage I-IIIB HR+/HER2-negative BC treated with neoadjuvant therapy (NAT). Available diagnostic biopsies and surgical samples were characterized for main pathological features, PAM50 IS and ROR-P score, and gene expression. Associations with pathologic complete response, residual cancer burden-0/I, event-free survival (EFS) and overall survival (OS) based on HER2 status were assessed. Pre/post pathologic/molecular changes were analyzed in matched samples. RESULTS: The HER2-low (62.9%) and HER2-0 (37.1%) cohorts did not differ significantly in main baseline features, treatments administered, breast-conserving surgery, pathologic complete response and residual cancer burden-0/I rates, EFS, and OS. NAT induced, regardless of HER2 status, a significant reduction of estrogen receptor/progesterone receptor and Ki67 levels, a down-regulation of PAM50 proliferation- and luminal-related genes/signatures, an up-regulation of selected immune genes, and a shift towards less aggressive IS and lower ROR-P. Moreover, 25% of HER2-0 changed to HER2-low and 34% HER2-low became HER2-0. HER2 shifts were significant after NACT (P < 0.001), not neoadjuvant endocrine therapy (P = 0.063), with consistent ERBB2 mRNA level dynamics. HER2 changes were not associated with EFS/OS. CONCLUSIONS: HER2-low and HER2-0 status change after NAT in ∼30% of cases, mostly after NACT. Targeted adjuvant strategies should be investigated accordingly. Molecular downstaging with current chemo/endocrine agents and immunotherapy should not rely on HER2 immunohistochemical levels in HR+/HER2-negative BC. Instead, HER2-low-targeted approaches should be explored to pursue more effective and/or less toxic dimensional downstaging.

Surveillance colonoscopy findings in asymptomatic participants over 75 years of age.

Background and Aim: Surveillance colonoscopy for colorectal cancer (CRC) is generally not recommended beyond 75 years of age. The study determined incidence and predictors of advanced adenoma and CRC in older individuals undergoing surveillance colonoscopy. Methods: This was a retrospective cohort study of asymptomatic older participants (≥75 years), enrolled in a South Australian CRC surveillance program who underwent colonoscopy (2015-2020). Clinical records were extracted for demographics, personal or family history of CRC, comorbidities, polypharmacy, and colonoscopy findings. The associations between clinical variables and advanced adenoma or CRC at surveillance were assessed with multivariable Poisson regression analysis. Results: Totally 698 surveillance colonoscopies were analyzed from 574 participants aged 75-91 years (55.6% male). The incidence of CRC was 1.6% (11/698), while 37.9% (260/698) of procedures had advanced adenoma detected. Previous CRC (incidence rate ratio [IRR] 5.9, 95% CI 1.5-22.5), age ≥85 years (IRR 5.8, 95% CI 1.6-20.1) and active smoking (IRR 4.9, 95% CI 1.0-24.4) were independently associated with CRC diagnosis, while advanced adenoma at immediately preceding colonoscopy (IRR 1.6, 95% CI 1.3-2.0) and polypharmacy (IRR 1.2, 95% CI 1.0-1.5) were associated with advanced adenoma at surveillance colonoscopy in asymptomatic older participants (≥75 years). Conclusion: Advanced neoplasia was found in more than one third of the surveillance procedures completed in this cohort. Continuation of surveillance beyond age 75 yeasrs may be considered in participants who have previous CRC or are active smokers (provided they are fit to undergo colonoscopy). In other cases, such as past advanced adenoma only, the need for ongoing surveillance should be considered alongside participant preference and health status.

Socio-economic and spatial inequalities in animal sources of iron-rich foods consumption among children 6-23 months old in Ethiopia: A decomposition analysis.

Iron deficiency anaemia is the most common type of anaemia in young children which can lead to long-term health consequences such as reduced immunity, impaired cognitive development, and school performance. As children experience rapid growth, they require a greater supply of iron from iron-rich foods to support their development. In addition to the low consumption of iron-rich foods in low- and lower-middle-income countries, there are also regional and socio-economic disparities. This study aimed to assess contributing factors of wealth-related inequality and geographic variations in animal sources of iron-rich food consumption among children aged 6-23 months in Ethiopia. We used data from the Ethiopian Mini Demographic and Health Surveys (EMDHS) 2019, a national survey conducted using stratified sampling techniques. A total of 1,461 children of age 6-23 months were included in the study. Iron-rich animal sources of food consumption were regarded when parents/caregivers reported that a child took at least one of the four food items identified as iron-rich food: 1) eggs, 2) meat (beef, lamb, goat, or chicken), 3) fresh or dried fish or shellfish, and 4) organs meat such as heart or liver. Concentration indices and curves were used to assess wealth-related inequalities. A Wagstaff decomposition analysis was applied to identify the contributing factors for wealth-related inequality of iron-rich animal source foods consumption. We estimated the elasticity of wealth-related inequality for a percentage change in socioeconomic variables. A spatial analysis was then used to map the significant cluster areas of iron-rich animal source food consumption among children in Ethiopia. The proportion of children who were given iron-rich animal-source foods in Ethiopia is 24.2% (95% CI: 22.1%, 26.5%), with figures ranging from 0.3% in Dire Dawa to 37.8% in the Oromia region. Children in poor households disproportionately consume less iron-rich animal-source foods than those in wealthy households, leading to a pro-rich wealth concentration index (C) = 0.25 (95% CI: 0.12, 0.37). The decomposition model explained approximately 70% of the estimated socio-economic inequality. About 21% of the wealth-related inequalities in iron-rich animal source food consumption in children can be explained by having primary or above education status of women. Mother's antenatal care (ANC) visits (14.6%), living in the large central and metropolitan regions (12%), household wealth index (10%), and being in the older age group (12-23 months) (2.4%) also contribute to the wealth-related inequalities. Regions such as Afar, Eastern parts of Amhara, and Somali were geographic clusters with low iron-rich animal source food consumption. There is a low level of iron-rich animal source food consumption among children, and it is disproportionately concentrated in the rich households (pro-rich distribution) in Ethiopia. Maternal educational status, having ANC visits, children being in the older age group (12-23 months), and living in large central and metropolitan regions were significant contributors to these wealth-related inequalities in iron-rich animal source foods consumption. Certain parts of Ethiopia such as, Afar, Eastern parts of Amhara, and Somali should be considered priority areas for nutritional interventions to increase children's iron-rich animal source foods consumption.

Accuracy, Acceptability, and Application: Fecal Immunochemical Tests for Early Detection of Advanced Neoplasia in Colonoscopy-Based Surveillance.

BACKGROUND: The fecal immunochemical test (FIT) is widely used in colorectal cancer (CRC) screening, but limited data exist for its application in individuals at above-average risk for CRC who complete surveillance colonoscopies. AIM: To assess the accuracy, acceptability, and effectiveness of FIT in the interval between surveillance colonoscopies, for predicting advanced neoplasia (advanced adenoma or CRC) at the next colonoscopy. METHODS: Individuals enrolled in an Australian surveillance program were included. Diagnostic accuracy was determined for 614 individuals completing a two-sample FIT (OC-Sensor) ≤ 3 months preceding surveillance colonoscopy. 386 Individuals were surveyed to assess acceptability of interval FIT. Additionally, a retrospective analysis was performed on 7331 individuals offered interval FIT between colonoscopies, where a positive FIT (≥ 20 µg hemoglobin/g feces) triggered an early colonoscopy. Associations between interval FIT results and advanced neoplasia were determined using regression analysis. RESULTS: FIT detected CRC and advanced adenoma with sensitivities of 60.0% (3/5) and 27.1% (35/129), respectively. Most (89.1%, 344/386) survey respondents preferred completing interval FIT every 1-2 years. The detection rate of interval FIT for advanced neoplasia decreased with increasing FIT completion. Individuals returning a positive FIT had a higher risk of advanced neoplasia than those who did not complete FIT. Positive interval FIT reduced time-to-diagnosis for CRC and advanced adenoma by a median of 30 and 20 months, respectively. CONCLUSION: Interval FIT was well accepted and enabled earlier detection of advanced neoplasia in individuals at above-average risk of CRC. Given that interval FIT predicts advanced neoplasia, it may be used to personalize surveillance colonoscopy intervals.

Computational Model Based on Optical Coherence Tomography (OCT) Skin Scanning to Identify and Quantify Acute Radiation Dermatitis (ARD): A Prospective Diagnostic Study.

BACKGROUND: Acute radiation dermatitis (ARD) is the most widely reported radiotherapy-induced adverse event. Currently, there is no objective or reliable method to measure ARD. OBJECTIVE: Our main objective was to identify and quantify the effects of radiotherapy with a computational model using optical coherence tomography (OCT) skin scanning. Secondary objectives included determining the ARD impact of different radiotherapeutic schemes and adjuvant topical therapies. METHODS: We conducted a prospective, single-center case series study in a tertiary referral center of patients with breast cancer who were eligible for whole breast radiotherapy (WBRT). RESULTS: A total of 39 women were included and distributed according to the radiotherapeutic schemes (15, 20, and 25 fractions). A computational model was designed to quantitatively analyze OCT findings. After radiotherapy, OCT scanning was more sensitive revealing vascularization changes in 84.6% of the patients (vs 69.2% of the patients with ARD by clinical examination). OCT quantified an increased vascularization at the end of WBRT (P<.05) and a decrease after 3 months (P=.032). Erythematous skin changes by OCT were more pronounced in the 25-fraction regime. CONCLUSION: An OCT computational model allowed for the identification and quantification of vascularization changes on irradiated skin, even in the absence of clinical ARD. This may allow the design of standardized protocols for ARD beyond the skin color of the patients involved.

Progress in the field of noninvasive diagnostics for colorectal cancer: a systematic review for the accuracy of blood-based biomarkers for detection of advanced pre-cancerous lesions.

BACKGROUND: Early detection of pre-cancerous adenomas through screening can reduce colorectal cancer (CRC) incidence. Fecal immunochemical tests are commonly used, but have limited sensitivity for pre-cancerous lesions. Blood-based screening may improve test sensitivity. This systematic review and meta-analysis was conducted to evaluate the accuracy of blood-based biomarkers for detection of advanced pre-cancerous lesions. RESEARCH DESIGN AND METHODS: We present the accuracy of blood-based biomarkers for the detection of advanced pre-cancerous lesions. EMBASE, Web of Science and PubMed databases were searched, with study populations limited to adults diagnosed with advanced pre-cancerous lesions at colonoscopy, who had a blood-based biomarker test analyzed with reports of sensitivity and specificity. RESULTS: 69 studies were identified, which assessed 133 unique biomarkers sets. The best performing test was a panel of 6 miRNAs, with a sensitivity of 95% and specificity of 90% for advanced pre-cancerous lesions. Only 6 biomarkers demonstrated sensitivity ≥ 50% and specificity ≥ 90% for the detection of advanced pre-cancerous lesions. CONCLUSION: Many different blood-based biomarkers have been assessed for detection of advanced pre-cancerous lesions, but few have progressed beyond the discovery stage. While some biomarkers have reported high sensitivity and specificity, larger prospective studies in unbiased intended-use screening populations are required for validation.

The Diagnostic Accuracy of a Fecal Immunochemical Test in Detecting Colorectal Cancer and Advanced Precancerous Colorectal Neoplasia in Patients with Iron Deficiency: A Protocol for Systematic Review and Meta-Analysis.

Background. Iron deficiency (ID) is a common micronutrient deficiency and the leading cause of anemia worldwide. ID can be caused by chronic occult blood loss from colorectal neoplasia including colorectal cancer (CRC) and advanced precancerous colorectal lesions. Current guidelines recommend colonoscopy in both men and postmenopausal women presenting with ID anemia (IDA). However, there is controversy on the investigation of patients presenting with a lower risk of CRC including younger women with ID and those with nonanemic ID (NAID). There is a need for a triaging tool to identify which ID patients may benefit from colonoscopy. The fecal immunochemical test (FIT) is sensitive for CRC screening in an asymptomatic population, but its role in ID patients is unclear. The aim of this study is to conduct a systematic review to determine the diagnostic accuracy of FIT for detecting CRC and advanced precancerous neoplasia in individuals presenting with ID with or without anemia. Methods and Analysis. This protocol conforms with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols and Cochrane Handbook for Systematic Reviews of Diagnostic Test Accuracy. A comprehensive search of the MEDLINE, Embase, and Web of Science databases will be undertaken for studies published after 2010 which involve patients with ID, who completed a FIT in the 6 months prior to colonoscopy, with FIT sensitivity and specificity calculated against the reference standard colonoscopy. The search will be limited to studies conducted after 2010 to reduce variability in colonoscopy quality. Risk of bias assessment will be conducted using the Quality Assessment of Diagnostic Accuracy Studies version 2. FIT sensitivity and specificity will be the primary measure of diagnostic accuracy, and data will be analysed using a random effects meta-analysis. Discussion. This review and meta-analysis will be the first to systematically explore the value of the FIT as a triaging tool for patients with ID. This trial is registered with CRD42022367162.

Factores etiopatogénicos y tratamiento de la enfermedad de Müller-Weiss / Etiopathogenic factors and treatment of Müller-Weiss disease

Antecedentes y objetivo: La enfermedad de Müller-Weiss (EMW) es una anomalía poco frecuente del escafoides tarsiano. Maceira y Rochera propusieron la teoría etiopatogénica más comúnmente aceptada, en la que estarían implicados factores displásicos, mecánicos y ambientales socioeconómicos. Se pretende describir las características clínicas y sociodemográficas de los pacientes de nuestro entorno con EMW, corroborar su asociación con los factores socioeconómicos descritos previamente, estimar la influencia de otros factores descritos en el desarrollo de la EMW, así como describir el tratamiento realizado. Materiales y métodos: Estudio retrospectivo de 60 pacientes diagnosticados de EMW en 2 hospitales terciarios de Valencia (España) entre los años 2010 y 2021. Resultados: Se incluyeron 60 pacientes, 21 (35,0%) hombres y 39 (65,0%) mujeres. En 29 (47,5%) casos la afectación fue bilateral. La media de edad de inicio de la sintomatología fue de 41,9±20,3 años. Durante la infancia, 36 (60,0%) pacientes sufrieron movimientos migratorios, y 26 (43,3%) problemas dentarios. La edad media de inicio laboral fue de 14,6±4,5 años. Se trataron de forma ortopédica 35 (58,3%) casos frente a 25 (41,7%) tratados quirúrgicamente, 11 (18,3%) mediante osteotomía de calcáneo y 14 (23,3%) con artrodesis. Conclusiones: Al igual que en la serie de Maceira y Rochera, encontramos una mayor prevalencia de EMW entre los nacidos alrededor de la Guerra Civil española y el periodo de movimientos migratorios masivos acontecidos en la quinta década del siglo xx. El tratamiento sigue sin estar bien establecido.(AU)

Background and aim: Müller-Weiss disease (MWD) is a rare anomaly of the tarsal scaphoid. Maceira and Rochera proposed the most commonly accepted etiopathogenic theory, in which dysplastic, mechanical, and socioeconomic environmental factors would be involved. The aim is to describe the clinical and sociodemographic characteristics of patients with MWD in our setting, corroborate their association with the socioeconomic factors previously described, estimate the influence of other factors involved in the development of MWD, and describe the treatment carried out. Materials and methods: Retrospective study of 60 patients diagnosed with MWD in 2 tertiary hospitals of Valencia (Spain) between 2010 and 2021. Results: Sixty patients were included, 21 (35.0%) men and 39 (65.0%) women. In 29 (47.5%) cases, the disease was bilateral. The mean age of onset of symptomatology was 41.9±20.3 years. During childhood, 36 (60.0%) patients suffered migratory movements, and 26 (43.3%) had dental problems. The mean age of onset was 14.6±4.5 years. Thirty-five (58.3%) cases were treated orthopedically versus 25 (41.7%) treated surgically, 11 (18.3%) by calcaneal osteotomy, and 14 (23.3%) with arthrodesis. Conclusions: As in the series of Maceira and Rochera, we found a higher prevalence of MWD among those born around the Spanish Civil War and the period of massive migratory movements that occurred in the fifth decade of the 20th century. Treatment is still not well established.(AU)

[Translated article] Aetiopathogenic factors and treatment of Müller-Weiss disease / Factores etiopatogénicos y tratamiento de la enfermedad de Müller-Weiss

Antecedentes y objetivo: La enfermedad de Müller-Weiss (EMW) es una anomalía poco frecuente del escafoides tarsiano. Maceira y Rochera propusieron la teoría etiopatogénica más comúnmente aceptada, en la que estarían implicados factores displásicos, mecánicos y ambientales socioeconómicos. Se pretende describir las características clínicas y sociodemográficas de los pacientes de nuestro entorno con EMW, corroborar su asociación con los factores socioeconómicos descritos previamente, estimar la influencia de otros factores descritos en el desarrollo de la EMW, así como describir el tratamiento realizado. Materiales y métodos: Estudio retrospectivo de 60 pacientes diagnosticados de EMW en 2 hospitales terciarios de Valencia (España) entre los años 2010 y 2021. Resultados: Se incluyeron 60 pacientes, 21 (35,0%) hombres y 39 (65,0%) mujeres. En 29 (47,5%) casos la afectación fue bilateral. La media de edad de inicio de la sintomatología fue de 41,9±20,3 años. Durante la infancia, 36 (60,0%) pacientes sufrieron movimientos migratorios, y 26 (43,3%) problemas dentarios. La edad media de inicio laboral fue de 14,6±4,5 años. Se trataron de forma ortopédica 35 (58,3%) casos frente a 25 (41,7%) tratados quirúrgicamente, 11 (18,3%) mediante osteotomía de calcáneo y 14 (23,3%) con artrodesis. Conclusiones: Al igual que en la serie de Maceira y Rochera, encontramos una mayor prevalencia de EMW entre los nacidos alrededor de la Guerra Civil española y el periodo de movimientos migratorios masivos acontecidos en la quinta década del siglo xx. El tratamiento sigue sin estar bien establecido.(AU)

Background and aim: Müller-Weiss disease (MWD) is a rare anomaly of the tarsal scaphoid. Maceira and Rochera proposed the most commonly accepted etiopathogenic theory, in which dysplastic, mechanical, and socioeconomic environmental factors would be involved. The aim is to describe the clinical and sociodemographic characteristics of patients with MWD in our setting, corroborate their association with the socioeconomic factors previously described, estimate the influence of other factors involved in the development of MWD, and describe the treatment carried out. Materials and methods: Retrospective study of 60 patients diagnosed with MWD in 2 tertiary hospitals of Valencia (Spain) between 2010 and 2021. Results: Sixty patients were included, 21 (35.0%) men and 39 (65.0%) women. In 29 (47.5%) cases, the disease was bilateral. The mean age of onset of symptomatology was 41.9±20.3 years. During childhood, 36 (60.0%) patients suffered migratory movements, and 26 (43.3%) had dental problems. The mean age of onset was 14.6±4.5 years. Thirty-five (58.3%) cases were treated orthopedically versus 25 (41.7%) treated surgically, 11 (18.3%) by calcaneal osteotomy, and 14 (23.3%) with arthrodesis. Conclusions: As in the series of Maceira and Rochera, we found a higher prevalence of MWD among those born around the Spanish Civil War and the period of massive migratory movements that occurred in the fifth decade of the 20th century. Treatment is still not well established.(AU)

Low Incidence of Colorectal Advanced Neoplasia During Surveillance in Individuals with a Family History of Colorectal Cancer.

BACKGROUND: Family history of colorectal cancer (CRC) is used to stratify individuals into risk categories which determine timing of initial screening and ongoing CRC surveillance. Evidence for long-term CRC risk following a normal index colonoscopy in family history populations is limited. AIMS: To assess the incidence of advanced neoplasia and associated risk factors in a population undergoing surveillance colonoscopies due to family history of CRC. METHODS: Surveillance colonoscopy findings were examined in 425 individuals with a family history of CRC, a normal index colonoscopy and a minimum of 10 years of follow-up colonoscopies. Advanced neoplasia risk was determined for three CRC family history categories (near-average, medium and high-risk), accounting for demographics and time after the first colonoscopy. RESULTS: The median follow-up was 13.5 years (IQR 11.5-16.0), with an incidence of advanced neoplasia of 14.35% (61/425). The number of affected relatives and age of CRC diagnosis in the youngest relative did not predict the risk of advanced neoplasia (p > 0.05), with no significant differences in advanced neoplasia incidence between the family history categories (p = 0.16). Patients ≥ 60 years showed a fourfold (HR 4.14, 95% CI 1.33-12.89) higher advanced neoplasia risk during surveillance than those < 40 years at index colonoscopy. With each subsequent negative colonoscopy, the risk of advanced neoplasia at ongoing surveillance was reduced. CONCLUSIONS: The incidence of advanced neoplasia was low (14.35%), regardless of the family history risk category, with older age being the main risk for advanced neoplasia. Delaying onset of colonoscopy or lengthening surveillance intervals could be a more efficient use of resources in this population.

[Translated article] Aetiopathogenic factors and treatment of Müller-Weiss disease.

BACKGROUND AND AIM: Müller-Weiss disease (MWD) is a rare anomaly of the tarsal scaphoid. Maceira and Rochera proposed the most commonly accepted etiopathogenic theory, in which dysplastic, mechanical, and socioeconomic environmental factors would be involved. The aim is to describe the clinical and sociodemographic characteristics of patients with MWD in our setting, corroborate their association with the socioeconomic factors previously described, estimate the influence of other factors involved in the development of MWD, and describe the treatment carried out. MATERIALS AND METHODS: Retrospective study of 60 patients diagnosed with MWD in 2 tertiary hospitals of Valencia (Spain) between 2010 and 2021. RESULTS: Sixty patients were included, 21 (35.0%) men and 39 (65.0%) women. In 29 (47.5%) cases, the disease was bilateral. The mean age of onset of symptomatology was 41.9±20.3 years. During childhood, 36 (60.0%) patients suffered migratory movements, and 26 (43.3%) had dental problems. The mean age of onset was 14.6±4.5 years. Thirty-five (58.3%) cases were treated orthopedically versus 25 (41.7%) treated surgically, 11 (18.3%) by calcaneal osteotomy, and 14 (23.3%) with arthrodesis. CONCLUSIONS: As in the series of Maceira and Rochera, we found a higher prevalence of MWD among those born around the Spanish Civil War and the period of massive migratory movements that occurred in the fifth decade of the 20th century. Treatment is still not well established.

Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.

Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its prevalence varies according to the studied population. Here, we report the molecular analysis of 81 patients with OI followed at reference centers in Brazil and France presenting COL1A1 or COL1A2 variants. Patients were submitted to clinical and radiographic dental examinations to diagnose the presence of DI. In addition, a systematic literature search and a descriptive statistical analysis were performed to investigate OI/DI phenotype-genotype correlation in a worldwide sample. In our cohort, 50 patients had COL1A1 pathogenic variants, and 31 patients had COL1A2 variants. A total of 25 novel variants were identified. Overall, data from a total of 906 individuals with OI were assessed. Results show that DI was more frequent in severe and moderate OI cases. DI prevalence was also more often associated with COL1A2 (67.6%) than with COL1A1 variants (45.4%) because COL1A2 variants mainly lead to qualitative defects that predispose to DI more than quantitative defects. For the first time, 4 DI hotspots were identified. In addition, we showed that 1) glycine substitution by branched and charged amino acids in the α2(I) chain and 2) substitutions occurring in major ligand binding regions-MLRB2 in α1(I) and MLBR 3 in α2(I)-could significantly predict DI (P < 0.05). The accumulated variant data analysis in this study provides a further basis for increasing our comprehension to better predict the occurrence and severity of DI and appropriate OI patient management.

Etiopathogenic factors and treatment of Müller-Weiss disease. / Factores etiopatogénicos y tratamiento de la enfermedad de Müller-Weiss.

BACKGROUND AND AIM: Müller-Weiss disease (MWD) is a rare anomaly of the tarsal scaphoid. Maceira and Rochera proposed the most commonly accepted etiopathogenic theory, in which dysplastic, mechanical, and socioeconomic environmental factors would be involved. The aim is to describe the clinical and sociodemographic characteristics of patients with MWD in our setting, corroborate their association with the socioeconomic factors previously described, estimate the influence of other factors involved in the development of MWD, and describe the treatment carried out. MATERIALS AND METHODS: Retrospective study of 60 patients diagnosed with MWD in 2 tertiary hospitals of Valencia (Spain) between 2010 and 2021. RESULTS: Sixty patients were included, 21 (35.0%) men and 39 (65.0%) women. In 29 (47.5%) cases, the disease was bilateral. The mean age of onset of symptomatology was 41.9±20.3 years. During childhood, 36 (60.0%) patients suffered migratory movements, and 26 (43.3%) had dental problems. The mean age of onset was 14.6±4.5 years. Thirty-five (58.3%) cases were treated orthopedically versus 25 (41.7%) treated surgically, 11 (18.3%) by calcaneal osteotomy, and 14 (23.3%) with arthrodesis. CONCLUSIONS: As in the series of Maceira and Rochera, we found a higher prevalence of MWD among those born around the Spanish Civil War and the period of massive migratory movements that occurred in the fifth decade of the 20th century. Treatment is still not well established.

Multiple Negative Fecal Immunochemical Tests Reduce Risk of Advanced Neoplasia in a Colonoscopy Surveillance Program.

BACKGROUND & AIMS: In above-average-risk individuals undergoing colonoscopy-based surveillance for colorectal cancer (CRC), screening with fecal immunochemical tests (FIT) between colonoscopies might facilitate personalization of surveillance intervals. Because a negative FIT is associated with a reduced risk for CRC, we examined the relationship between number of rounds of negative FIT and risk for advanced neoplasia in individuals undergoing surveillance colonoscopy. METHODS: We conducted a retrospective cohort study on 4021 surveillance intervals in 3369 individuals (50-74 years), who had completed a 2-sample FIT between colonoscopies, from 1 to 4 rounds at 1-2 yearly intervals, each with a negative result (<20 µg hemoglobin/g feces). Incidence of advanced neoplasia (CRC or advanced adenoma) was determined at the follow-up colonoscopy. Competing-risk regression was used to assess the association between multiple negative FIT results and the risk of advanced neoplasia within 2 years. RESULTS: The incidence of advanced neoplasia in the cohort was 9.9% and decreased with increasing numbers of rounds of negative FIT results: 11.1% after 1 negative FIT to 5.7% after 4 negative FIT. The risk of advanced neoplasia was significantly lower in participants with 3 (subdistribution hazard ratio, 0.50; 95% confidence interval, 0.24-0.97) and 4 (subdistribution hazard ratio, 0.33; 95% confidence interval, 0.15-0.73) rounds of negative FIT compared with only 1 negative FIT. CONCLUSIONS: There was a low risk of advanced neoplasia after multiple rounds of negative FIT in above-average-risk people undergoing surveillance with no neoplasia or nonadvanced adenoma at prior colonoscopy. This supports the use of interval FIT to personalize surveillance by lengthening colonoscopy intervals following multiple negative FIT results.

Patient attitudes towards changes in colorectal cancer surveillance: An application of the Health Belief Model.

OBJECTIVE: This is to determine whether health beliefs regarding colorectal cancer (CRC) screening could predict discomfort with a change to CRC surveillance proposing regular faecal immunochemical tests (FIT) instead of colonoscopy. METHODS: Eight hundred individuals enrolled in a South Australian colonoscopy surveillance programme were invited to complete a survey on surveillance preferences. Responses were analysed using binary logistic regression predicting discomfort with a hypothetical FIT-based surveillance change. Predictor variables included constructs based on the Health Belief Model: perceived threat of CRC, perceived confidence to complete FIT and colonoscopy (self-efficacy), perceived benefits from current surveillance and perceived barriers to FIT and colonoscopy. RESULTS: A total of 408 participants (51%) returned the survey (complete data n = 303; mean age 62 years, 52% male). Most participants (72%) were uncomfortable with FIT-based surveillance reducing colonoscopy frequency. This attitude was predicted by a higher perceived threat of CRC (OR = 1.03 [95% CI 1.01-1.04]), higher colonoscopy self-efficacy (OR = 1.34 [95% CI 1.13-1.59]) and lower perceived barriers to colonoscopy (OR = 0.92 [95% CI 0.86-0.99]). CONCLUSIONS: Health beliefs regarding colonoscopy and perceived threat of CRC may be important to consider when changing CRC surveillance protocols. If guideline changes were introduced, these factors should be addressed to provide patients reassurance concerning the efficacy of the alternative protocol.

Las coaliciones tarsianas como causa de dolor en el pie infantil: opciones terapéuticas / Tarsal coalitions as a cause of pain in the foot of children: Therapeutic options

Antecedentes y objetivo: La coalición tarsiana puede ser causa de dolor de medio-retropié en niños mayores. El objetivo es analizar los tipos de coalición tratados en nuestro centro hospitalario de 2010 a 2019 así como el tratamiento realizado. Material y método: Estudio observacional, descriptivo y retrospectivo de 18 pacientes con coalición tarsiana, 8 mujeres y 10 hombres, de 11,9±2,6 años de edad. Se recogieron datos epidemiológicos, hallazgos clínicos y de pruebas de imagen y tratamiento realizado. Resultados: Se revisaron 25 pies (38,8% bilaterales). El principal síntoma fue el dolor. Un 64% se asociaba a pie plano-valgo. El 52% se localizaba en la articulación calcáneo-escafoidea, y un 40% en la calcáneo-astragalina. El tratamiento fue conservador en un 44,4% de los casos y quirúrgico en el 56% (resección de la coalición). Se produjo un solo caso de recidiva. Los resultados fueron mayoritariamente excelentes o buenos (88%) tras un periodo medio de seguimiento de 4 años. Conclusiones: El tipo de coalición tarsiana diagnosticada con mayor frecuencia fue la localizada en la articulación calcáneo-escafoidea seguida de la calcáneo-astragalina, pero puede aparecer en cualquier articulación del pie. Casi la mitad respondieron bien al tratamiento conservador con resultados mayoritariamente buenos, pero el resto requirieron tratamiento quirúrgico por persistencia de la clínica, cuyos resultados fueron excelentes en todos los casos excepto en uno que sufrió una recidiva. En los casos de coaliciones calcáneo-astragalinas asociadas a valgo severo de retropié, la corrección de esta deformidad, asociada o no a la resección de la coalición, es recomendable.(AU)

Background and objective: The tarsal coalition can be a cause of mid-hindfoot pain in older children. The objective is to analyze the types of coalition treated in our hospital from 2010 to 2019 as well as the treatment carried out. Material and method: Observational, descriptive and retrospective study of 18 patients with tarsal coalition, 8 women and 10 men, aged 11.9±2.6 years. Epidemiological data, clinical findings and imaging tests, and treatment performed were collected. Results: Twenty-five feet (38.8% bilateral) were reviewed. The main symptom was pain. Sixty-four percent were associated with flat-valgus foot. Fifty-two percent were located in the calcaneal-scaphoid joint, and 40% in the calcaneal-talar joint. Treatment was conservative in 44.4% of cases and surgical in 56% (coalition resection). There was only one case of recurrence. The results were mostly excellent or good (88%) after a mean follow-up period of 4 years. Conclusions: The most frequently diagnosed type of tarsal coalition was that located in the calcaneal-scaphoid joint followed by the calcaneal-talar joint, but they can appear in any joint of the foot. Almost half responded well to conservative treatment with mostly good results, but the rest required surgical treatment due to persistence of the symptoms, the results of which were excellent in all cases except one who suffered a recurrence. In cases of calcaneal-talar coalitions associated with severe hindfoot valgus, correction of this deformity, associated or not with resection of the coalition, is recommended.(AU)

[Translated article] Tarsal coalitions as a cause of pain in the foot of children: Therapeutic options / Las coaliciones tarsianas como causa de dolor en el pie infantil: opciones terapéuticas

Antecedentes y objetivo: La coalición tarsiana puede ser causa de dolor de medio-retropié en niños mayores. El objetivo es analizar los tipos de coalición tratados en nuestro centro hospitalario de 2010 a 2019 así como el tratamiento realizado. Material y método: Estudio observacional, descriptivo y retrospectivo de 18 pacientes con coalición tarsiana, 8 mujeres y 10 hombres, de 11,9±2,6 años de edad. Se recogieron datos epidemiológicos, hallazgos clínicos y de pruebas de imagen y tratamiento realizado. Resultados: Se revisaron 25 pies (38,8% bilaterales). El principal síntoma fue el dolor. Un 64% se asociaba a pie plano-valgo. El 52% se localizaba en la articulación calcáneo-escafoidea, y un 40% en la calcáneo-astragalina. El tratamiento fue conservador en un 44,4% de los casos y quirúrgico en el 56% (resección de la coalición). Se produjo un solo caso de recidiva. Los resultados fueron mayoritariamente excelentes o buenos (88%) tras un periodo medio de seguimiento de 4 años. Conclusiones: El tipo de coalición tarsiana diagnosticada con mayor frecuencia fue la localizada en la articulación calcáneo-escafoidea seguida de la calcáneo-astragalina, pero puede aparecer en cualquier articulación del pie. Casi la mitad respondieron bien al tratamiento conservador con resultados mayoritariamente buenos, pero el resto requirieron tratamiento quirúrgico por persistencia de la clínica, cuyos resultados fueron excelentes en todos los casos excepto en uno que sufrió una recidiva. En los casos de coaliciones calcáneo-astragalinas asociadas a valgo severo de retropié, la corrección de esta deformidad, asociada o no a la resección de la coalición, es recomendable.(AU)

Background and objective: The tarsal coalition can be a cause of mid-hindfoot pain in older children. The objective is to analyze the types of coalition treated in our hospital from 2010 to 2019 as well as the treatment carried out. Material and method: Observational, descriptive and retrospective study of 18 patients with tarsal coalition, 8 women and 10 men, aged 11.9±2.6 years. Epidemiological data, clinical findings and imaging tests, and treatment performed were collected. Results: Twenty-five feet (38.8% bilateral) were reviewed. The main symptom was pain. Sixty-four percent were associated with flat-valgus foot. Fifty-two percent were located in the calcaneal-scaphoid joint, and 40% in the calcaneal-talar joint. Treatment was conservative in 44.4% of cases and surgical in 56% (coalition resection). There was only one case of recurrence. The results were mostly excellent or good (88%) after a mean follow-up period of 4 years. Conclusions: The most frequently diagnosed type of tarsal coalition was that located in the calcaneal-scaphoid joint followed by the calcaneal-talar joint, but they can appear in any joint of the foot. Almost half responded well to conservative treatment with mostly good results, but the rest required surgical treatment due to persistence of the symptoms, the results of which were excellent in all cases except one who suffered a recurrence. In cases of calcaneal-talar coalitions associated with severe hindfoot valgus, correction of this deformity, associated or not with resection of the coalition, is recommended.(AU)