Successful Treatment of Stimulator of Interferon Genes-Associated Vasculopathy of Infantile Onset SAVI Syndrome With Anifrolumab.

This case report describes a woman in her 30s who presented with cutaneous lesions since age of 2 to 3 years with erythema and pain on her nose, both cheeks, and ears when exposed to cold temperatures that progressed to nasal and auricular cartilage necrosis and was diagnosed with stimulator of interferon genes­associated vasculopathy with onset in infancy (SAVI syndrome).

Real-world effectiveness and safety of bimekizumab for hidradenitis suppurativa: An ambispective observational study.

In this original research, we present the results in terms of effectiveness and safety of bimekizumab for hidradenitis suppurativa in real clinical practice. Results indicated significant improvement in all activity scores and patient-reported outcomes at week 16, including a notable decrease in mean IHS4 from 27.1 to 15.6 (p < 0.001), HS-PGA from 5.1 to 3.2 (p < 0.001), VAS pain from 8.3 to 4.7 (p < 0.001) and DLQI from 21.6 to 12.6 (p < 0.001). Bimekizumab, administered every 2 or 4 weeks, was well-tolerated with no discontinuations and no new safety concerns identified. These findings corroborate the drug's effectiveness and favourable safety profile observed in phase 3 clinical trials, supporting its use in real-world clinical practice for treating HS.

Mohs micrographic surgery in immunosuppressed vs immunocompetent patients: Results of a prospective nationwide cohort study (REGESMOHS, Spanish registry of Mohs surgery).

BACKGROUND: Immunosuppressed (IS) patients, particularly solid organ transplant recipients and those on immunosuppressive therapy, face a higher incidence and recurrence of nonmelanoma skin cancers (NMSC), including basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). Mohs micrographic surgery (MMS) is the preferred treatment for high-risk NMSC due to its high cure rate and margin examination capabilities. However, IS patients may experience more complications, such as surgical site infections, and a greater risk of recurrence, making their outcomes a subject of interest. OBJECTIVES: This study aimed to compare IS and immunocompetent (IC) patients undergoing MMS for NMSC in terms of baseline characteristics, intra- and post-surgical complications, and postoperative recurrence rates. METHODS: The study utilized data from the REGESMOHS registry, a 7-year prospective cohort study in Spain. It included 5226 patients, categorizing them into IC (5069) and IS (157) groups. IS patients included solid organ transplant recipients, those on immunosuppressive treatments, individuals with haematological tumours and HIV-positive patients. Patient data, tumour characteristics, surgical details and outcomes were collected and analysed. RESULTS: IS patients demonstrated a higher proportion of SCC, multiple synchronous tumours and tumours invading deeper structures. Complex closures, unfinished MMS and more surgical sections were observed in the IS group. Although intra-operative morbidity was higher among IS patients, this difference became non-significant when adjusted for other variables such as year of surgery, antiplatelet/anticoagulant treatment or type of closure. Importantly, IS patients had a substantially higher recurrence rate (IRR 2.79) compared to IC patients. CONCLUSIONS: This study suggests that IS patients may be at a higher risk of development of AE such as bleeding or tumour necrosis and are at a higher risk of tumour recurrence. Close follow-up and consideration of the specific characteristics of NMSC in IS patients are crucial. Further research with extended follow-up is needed to better understand the long-term outcomes for this patient group.

Development and validation of a model to predict complex Mohs micrographic surgery in clinical practice: REGESMOSH scale.

INTRODUCTION: There is still a need to develop a simple algorithm to identify patients likely to need complex Mohs micrographic surgery (MMS) and optimize MMS schedule. The main objectives of this study are to identify factors associated with a complex MMS and develop a predictor model of the number of stages needed in surgery and the need for a complex closure. MATERIALS AND METHODS: A nationwide prospective cohort study (REGESMOHS, the Spanish Mohs surgery registry) was conducted including all patients with a histological diagnosis of basal cell carcinoma (BCC). Factors related to three or more stages and a complex closure (that needing a flap and/or a graft) were explored and predictive models were constructed and validated to construct the REGESMOSH scale. RESULTS: A total of 5226 patients that underwent MMS were included in the REGESMOHS registry, with 4402 (84%) having a histological diagnosis of BCC. A total of 3689 (88.9%) surgeries only needed one or two stages and 460 (11.1%) required three or more stages. A model to predict the need for three or more stages included tumour dimension, immunosuppression, recurrence, location in risk areas, histological aggressiveness and previous surgery. Regarding the closure type, 1616 (38.8%) surgeries were closed using a non-complex closure technique and 2552 (61.2%) needed a complex closure. A model to predict the need for a complex closure included histological aggressiveness, evolution time, patient age, maximum tumour dimension and location. CONCLUSION: We present a model to predict MMS needing ≥3 stages and a complex closure based on epidemiological and clinical data validated in a large population (with real practice variability) including different centres that could be easily implemented in clinical practice. This model could be used to optimize surgery schedule and properly inform patients about the surgery duration.

Cervical pessary and cerclage placement for preterm birth prevention and cervicovaginal microbiome changes.

INTRODUCTION: Our objective was to compare the vaginal microbiome in low-risk and high-risk pregnant women and to explore a potential association between vaginal microbiome and preterm birth. MATERIAL AND METHODS: A pilot, consecutive, longitudinal, multicenter study was conducted in pregnant women at 18-22 weeks of gestation. Participants were assigned to one of three groups: control (normal cervix), pessary (cervical length ≤25 mm) and cerclage (cervical length ≤25 mm or history of preterm birth). Analysis and comparison of vaginal microbiota as a primary outcome was performed at inclusion and at 30 weeks of gestation, along with a follow-up of pregnancy and perinatal outcomes. We assessed the vaginal microbiome of pregnant women presenting a short cervix with that of pregnant women having a normal cervix, and compared the vaginal microbiome of women with a short cervix before and after placement of a cervical pessary or a cervical cerclage. RESULTS: The microbiome of our control cohort was dominated by Lactobacillus crispatus and inners. Five community state types were identified and microbiome diversity did not change significantly over 10 weeks in controls. On the other hand, a short cervix was associated with a lower microbial load and higher microbial richness, and was not correlated with Lactobacillus relative abundance. After intervention, the cerclage group (n = 19) had a significant increase in microbial richness and a shift towards community state types driven by various bacterial species, including Lactobacillus mulieris, unidentified Bifidobacterium or Enterococcus. These changes were not significantly observed in the pessary (n = 26) and control (n = 35) groups. The cerclage group had more threatened preterm labor episodes and poorer outcomes than the control and pessary groups. CONCLUSIONS: These findings indicate that a short cervix is associated with an altered vaginal microbiome community structure. The use of a cerclage for preterm birth prevention, as compared with a pessary, was associated with a microbial community harboring a relatively low abundance of Lactobacillus, with more threatened preterm labor episodes, and with poorer clinical outcomes.

Efficacy of a Social Interaction Intervention in Early Postoperative Period to Improve Coping in Persons With an Ostomy: A Randomized Controlled Trial.

PURPOSE: The purpose of this study was to analyze the efficacy of a social interaction intervention delivered during the early postoperative time period on the coping process in persons with a new ostomy. DESIGN: Randomized controlled trial. SUBJECTS AND SETTING: The sample comprised 52 persons who underwent surgical management of colorectal including a fecal ostomy; 27 were randomly allocated to the intervention group and 25 to the control group. One participant allocated to the control group died before data collection; thus, findings are based on data from 51 participants. The study setting is the Regional University Hospital of Malaga, located on the southern coast of Spain. METHODS: Ostomy visitors (persons living with an ostomy) were taught to listen to the experiences and the concerns of the participant and to serve as an example of an individual who has successfully learned to live with a fecal ostomy. The intervention was a visit with a person with a new ostomy during the early postoperative period. Control group participants were offered standard care that did not include the visit from a person with an ostomy. Outcome measures were taken from the Nursing Outcomes Classification taxonomy. The main outcome measure was coping; secondary outcome measures were health beliefs and acceptance of health status. Bivariate analyses were performed to evaluate differences between groups in terms of the primary and secondary outcomes. A multivariate linear regression analysis was performed to identify predictor variables of the primary outcome, and effect size calculations were used to differentiate statistical significance versus clinical relevance. RESULTS: There were no differences in demographic or pertinent characteristics of participants in the 2 groups. Participants who received the intervention achieved a higher mean coping process scores: 3.90 vs 3.19, P = .002 and Cohen d = 0.97. In addition, intervention group participants achieved a higher mean efficacy for the secondary outcomes: 3.78 versus 2.97 (P = .0004) and Cohen d = 1.11 for health beliefs, and 3.68 versus 2.83 (P = .0001) and Cohen d = 1.24 for acceptance of health status. Linear regression analysis indicated that the social interaction intervention (ß= .799; P = .000) and undergoing urgent versus routine ostomy surgery (ß=-.610; P = .005) were related to coping. CONCLUSIONS: Findings indicate that a visit with a trained person living with an ostomy facilitated coping and improved health beliefs and acceptance of health status.

SfM-3DULC: Reliability of a new 3D wound measurement procedure and its accuracy in projected area.

Three-dimensional (3D) wound measurement lacks a gold standard to test accuracy. It is useful to develop procedures to scan wounds and reconstruct their 3D model with low-cost techniques. We present a new procedure (Structure from Motion [SfM]-3DULC) that uses photographs for measuring nine wound variables. We also propose a new variant of ImageJ in which an orthophoto is used to measure the projected area (Ortho-ImageJ). In addition, we compare the wound measurements made by dermatologists and non-experts. A group of five experts in dermatology and five non-specialists measured 33 leg wounds five times per procedure. Intra-rater and inter-rater reliability scores of SfM-3DULC were evaluated with the intraclass correlation coefficient (ICC 2,1). The accuracy of the two new procedures (SfM-3DULC and Ortho-ImageJ) in the measurement of projected area was assessed by comparing their values with those obtained using ImageJ, with the Wilcoxon matched-pairs signed rank test (α = 0.05). This test was also used to analyse the differences between the measurements made by dermatologists and non-experts. All the variables measured by dermatologists using SfM-3DULC showed excellent scores of intra-rater reliability (ICC > 0.99) and inter-rater reliability (ICC > 0.98). No significant differences between the three procedures were found when comparing their projected area values. Significant differences between the measurements of dermatologists and non-experts were found in most of the variables: circularity coefficient, perimeter, projected area, surface area, and reference surface area. The wound measurement procedure SfM-3DULC has an excellent reliability, is accurate for the measurement of projected area, and can be used by dermatologists for wound monitoring in everyday clinical practice.

Complications Associated with Mohs Micrographic Surgery: Data from the Nationwide Prospective Cohort REGESMOHS.

BACKGROUND: Large prospective studies on the safety of Mohs micrographic (MMS) surgery are scarce, and most focus on a single type of surgical adverse event. Mid-term scar alterations and functional loss have not been described. OBJECTIVES: To describe the risk of MMS complications and the risk factors for them. METHODS: A nationwide prospective cohort collected all adverse events on consecutive patients in 22 specialised centres. We used multilevel mixed-effects logistic regression to find out factors associated with adverse events. RESULTS: 5,017 patients were included, with 14,421 patient-years of follow-up. 7.0% had some perioperative morbidity and 6.5% had mid-term and scar-related complications. The overall risk of complications was mainly associated with use of antiaggregant/anticoagulant and larger tumours, affecting deeper structures, not reaching a tumour-free border, and requiring complex repair. Age and outpatient setting were not linked to the incidence of adverse events. Risk factors for haemorrhage (0.9%) were therapy with antiaggregant/anticoagulants, tumour size, duration of surgery, and unfinished surgery. Wound necrosis (1.9%) and dehiscence (1.0%) were associated with larger defects and complex closures. Immunosuppression was only associated with an increased risk of necrosis. Surgeries reaching deeper structures, larger tumours and previous surgical treatments were associated with wound infection (0.9%). Aesthetic scar alterations (5.4%) were more common in younger patients, with larger tumours, in H-area, and in flap and complex closures. Risk factors for functional scar alterations (1.7%) were the need for general anaesthesia, larger tumours that had received previous surgery, and flaps or complex closures. CONCLUSIONS: MMS shows a low risk of complications. Most of the risk factors for complications were related to tumour size and depth, and the resulting need for complex surgery. Antiaggregant/anticoagulant intake was associated with a small increase in the risk of haemorrhage, that probably does not justify withdrawal. Age and outpatient setting were not linked to the risk of adverse events.

Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.

OBJECTIVE: The aim of the study was to assess the diagnostic yield of 2 different next-generation sequencing (NGS) approaches: gene panel and "solo" clinical exome sequencing (solo-CES), in fetuses with structural anomalies and normal chromosomal microarray analysis (CMA), in the absence of a known familial mutation. METHODOLOGY: Gene panels encompassing from 2 to 140 genes, were applied mainly in persistent nuchal fold/fetal hydrops and in large hyperechogenic kidneys. Solo-CES, which entails sequencing the fetus alone and only interpreting the Online Mendelian Inheritance in Man genes, was performed in multisystem or recurrent structural anomalies. RESULTS: During the study period (2015-2020), 153 NGS studies were performed in 148 structurally abnormal fetuses with a normal CMA. The overall diagnostic yield accounted for 35% (53/153) of samples and 36% (53/148) of the fetuses. Diagnostic yield with the gene panels was 31% (15/49), similar to 37% (38/104) in solo-CES. CONCLUSIONS: A monogenic disease was established as the underlying cause in 35% of selected fetal structural anomalies by gene panels and solo-CES.