American College Research Articles

Characteristics of early complications in isolated primary anterior cruciate ligament reconstruction surgery.

The early complications of isolated anterior cruciate ligament reconstruction surgery (ACLR) have not been well characterized using large databases. This study aims to characterize incidence, impact, and risk factors for short-term operative complications following elective, isolated ACLR surgery. We hypothesize that demographic and perioperative factors may predict 30-day complications after isolated ACLR. This case-control analysis of the American College of Surgeons National Surgical Quality Improvement Program Database (2005-2017) used Current Procedural Terminology codes to identify elective, isolated ACLR patients. Patients undergoing concomitant procedures were excluded. Complications were analyzed using bivariate analysis against demographic variables. Multiple stepwise logistic regression was used to identify independent risk factors for morbidity after ACLR. A total 12,790 patients (37.0% female, p = 0.674) were included with a mean age of 32.2years old (SD 10.7years, p < 0.001). Mean BMI was 27.8kg/m2 (6.5) where 28.9% of patients had a BMI > 30 (p = 0.064). The most common complications were wound-related (0.57%). In cases with complications, there were higher rates of (1.3% vs 0.8%, p = 0.004) prolonged operation (> 1.5h), higher rate (2.9% vs 1.8%, p = 0.004) of extended length of stay (≥ 1day), unplanned reoperation (15.8% vs 0.3%, p < 0.001), and unplanned readmission (17.5% vs 0.3%, p < 0.001). Multivariate analysis showed prolonged operative time (p = 0.001), dyspnea (p = 0.008), and non-ambulatory surgery (p = 0.034) to be predictive of any complication. Dependent functional status (p = 0.091), mFI-5 > 0.2 (= 0.173), female sex (p = 0.191), obesity (p = 0.101), and smoking (p = 0.113) were not risk factors for complications. ACLR is associated with low rates of morbidity and readmissions. The most common comorbidities, complications, and predictors of morbidities were identified to aid surgeons in further reducing adverse outcomes of ACLR. Operative time > 1.5h, dyspnea, and non-ambulatory surgery are predictive of complications.

2024 ACC/AHA/AACVPR/APMA/ABC/SCAI/SVM/SVN/SVS/SIR/VESS Guideline for the Management of Lower Extremity Peripheral Artery Disease: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.

The "2024 ACC/AHA/AACVPR/APMA/ABC/SCAI/SVM/SVN/SVS/SIR/VESS Guideline for the Management of Lower Extremity Peripheral Artery Disease" provides recommendations to guide clinicians in the treatment of patients with lower extremity peripheral artery disease across its multiple clinical presentation subsets (ie, asymptomatic, chronic symptomatic, chronic limb-threatening ischemia, and acute limb ischemia). A comprehensive literature search was conducted from October 2020 to June 2022, encompassing studies, reviews, and other evidence conducted on human subjects that was published in English from PubMed, EMBASE, the Cochrane Library, CINHL Complete, and other selected databases relevant to this guideline. Additional relevant studies, published through May 2023 during the peer review process, were also considered by the writing committee and added to the evidence tables where appropriate. Recommendations from the "2016 AHA/ACC Guideline on the Management of Patients With Lower Extremity Peripheral Artery Disease" have been updated with new evidence to guide clinicians. In addition, new recommendations addressing comprehensive care for patients with peripheral artery disease have been developed.

Advances in Clinical Cardiology 2023: A Summary of Key Clinical Trials.

Over the course of 2023, numerous key clinical trials with valuable contributions to clinical cardiology were published or presented at major international conferences. This review seeks to summarise these trials and reflect on their clinical context. The authors collated and reviewed clinical trials presented at major cardiology conferences during 2023 including the American College of Cardiology (ACC), European Association for Percutaneous Cardiovascular Interventions (EuroPCR), European Society of Cardiology (ESC), Transcatheter Cardiovascular Therapeutics (TCT), American Heart Association (AHA), European Heart Rhythm Association (EHRA), Society for Cardiovascular Angiography and Interventions (SCAI), TVT-The Heart Summit (TVT) and Cardiovascular Research Technologies (CRT). Trials with a broad relevance to the cardiology community and those with potential to change current practice were included. A total of 80 key cardiology clinical trials were identified for inclusion. Key trials in acute coronary syndrome (ACS) and antiplatelet management such as HOST-IDEA, T-PASS and STOP-DAPT3 were included in addition to several pivotal interventional trials such as ORBITA 2, MULTISTARS-AMI, ILUMIEN-IV, OCTIVUS and OCTOBER. Additionally, several trials evaluated new stent design and technology such as BIOSTEMI, PARTHENOPE and TRANSFORM. Structural intervention trials included long-term data from PARTNER 3, new data on the durability of transcatheter aortic valve intervention (TAVI), in addition to major new trials regarding transcatheter tricuspid valve intervention from TRISCEND II. Heart failure (HF) and prevention covered several key studies including DAPA-MI, STEP-HF, ADVOR, DICTATE HF and CAMEO-DAPA. In cardiac devices and electrophysiology, several trial exploring novel ablation strategies in atrial fibrillation (AF) such as PULSED AF and ADVENT were presented with further data evaluating the efficacy of anticoagulation in subclinical AF in NOAH-AFNET 6, FRAIL AF and AZALEA-TIMI 71. This article presents a summary of key clinical cardiology trials published and presented during the past year and should be of interest to both practising clinicians and researchers.

Perioperative Management of Traditional and Direct Oral Anticoagulants in Hip Fracture Patients

Hip fractures are an increasingly common injury in the senior population and almost always require surgical fixation or prosthetic replacement. These surgeries, according to the American Academy of Orthopaedic Surgeons, are considered high-risk for bleeding, especially in a population fraught with comorbidities and often presenting on anticoagulation medications. Direct oral anticoagulants represent a class of drugs that have been becoming more popular in use in this population, with many benefits over the historically used Warfarin. There are recommendations for preoperative discontinuation and postoperative resumption of these medications, which can be more readily managed for elective surgeries. However, there is a paucity of literature detailing best practice guidelines for the perioperative management of direct oral anticoagulants when a patient presents with a hip fracture. This review article summary of the periprocedural management of DOACs for hip surgery was developed by examining the American College of Chest Physicians evidence-based clinical practice guidelines, Perioperative Guidelines on Antiplatelet and Anticoagulant Agents written by anesthesiologists, various retrospective studies, and drug labels for pharmacokinetic data. These recommendations should be used as a guideline, along with the collaboration of multidisciplinary hospital teams during inpatient admission, to manage these complex patients.

Cardiometabolic factors and population risks of cardiovascular disease in community-dwelling adults with varied blood pressure statuses.

To examine the differential associations between cardiometabolic risk factors and cardiovascular disease (CVD), and to evaluate the population-attributable fractions (PAFs) for CVD among community-dwelling adults with varied blood pressure (BP) statuses. This prospective cohort study included participants without prevalent CVD from a subcohort of the China Patient-Centred Evaluative Assessment of Cardiac Events Million Persons Project. Participants were divided into four BP groups according to the American College of Cardiology/American Heart Association guidelines. The study exposure comprised the selected cardiometabolic risk factors, including waist circumference (WC), body mass index, (BMI) heart rate, fasting blood glucose (FBG), low-density lipoprotein cholesterol, and remnant cholesterol. The outcome was hospitalizations for CVD. Cox proportional hazard models were conducted, and the PAFs were calculated in the analysis. Among the 94 183 participants (39.0% were men, mean age: 54.2 years), 26.6% had Stage 1 hypertension and 30.8% had Stage 2 hypertension. A total of 6065 hospitalizations for CVD were captured after a median follow-up of 3.5 years. BP (per 1-standard deviation [SD]: hazard ratio [HR] 1.34, 95% confidence interval [CI] 1.29, 1.40), FBG (per 1-SD: HR 1.16, 95% CI 1.14, 1.19) and WC (per 1-SD: HR 1.41, 95% CI 1.36, 1.47) were three major contributors to CVD events. BP status significantly modified the associations of abdominal obesity, suboptimal BMI, suboptimal heart rate and abnormal FBG with CVD, with stronger associations with CVD observed in optimal BP groups compared to hypertensive groups (p for risk factor-by-BP group interaction <0.05). Participants with all cardiometabolic risk factors were at the highest risk for CVD, accounting for 35.6% (95% CI 30.0, 40.8) of the PAF for CVD. Among the risk factors, BP control explained the highest PAF for CVD (15.1%, 95% CI 8.2, 21.4) The overall PAFs of cardiometabolic risk factors for CVD were higher among the normotensive participants compared to the hypertensive participants. The awareness and control rates of hypertension were extremely low among Southern Chinese adults. BP status significantly modified the associations between cardiometabolic risk factors and CVD, and the overall PAFs for CVD were higher among people with normal BP. Dedicated efforts are needed to improve the management of cardiometabolic factors.

Supplemental Material for Native American College Students in Counseling: Results From a Large-Scale, Multisite Effectiveness Study

Supplemental Material for Native American College Students in Counseling: Results From a Large-Scale, Multisite Effectiveness Study

Obstetrical outcomes of women with new-onset isolated proteinuria diagnosed after 24weeks' gestation.

To assess a possible association between marked proteinuria and the risk of preeclampsia with severe features, as defined by the American College of Obstetricians and Gynecologists. This retrospective study included data recorded at a tertiary university-affiliated hospital between 2017 and 2022. Women at or beyond 24weeks of gestation with proteinuria (protein levels > 300mg in a 24h urine collection) and normal blood pressure during the initial 48h of admission were included. Obstetrical and neonatal outcomes were compared between women with mild proteinuria (300-1000mg/24h) and marked proteinuria (≥ 1000mg/24h). Among the women with marked proteinuria (n = 48) compared to those with mild proteinuria (n = 108), the incidences were higher of preeclampsia (50.0% vs. 22.2%, p = 0.001) and of preeclampsia with severe features (18.8% vs. 2.8%, p < 0.001). In multivariate analysis that adjusted for maternal age, primiparity, multiple pregnancy, uric acid level > 6mg/dL and aspirin treatment, marked proteinuria was a risk factor for preeclampsia with severe features (adjusted odds ratio [aOR] = 10.2, confidence interval [CI] 95% 1.9-54.0, p = 0.007) and for small-for-gestational-age infants (aOR = 2.4, 95% CI 1.02-5.6, p = 0.001). Among women with marked compared to mild proteinuria, rates were also higher of labor induction (58.3% vs. 25.9%, p < 0.001), indicated preterm delivery (41.7% vs. 25.0%, p = 0.04) and admission to the neonatal intensive care unit (44.1% vs. 25.8%, p = 0.017). Women with marked compared to mild isolated proteinuria showed higher risk of developing preeclampsia with severe features and of delivering small-for-gestational-age neonates.

Mammography of suspicious calcifications among ductal carcinoma in situ and benign breast disease

Background: Most ductal carcinoma in situ (DCIS) lesions manifest early as calcifications, which could be benign or malignant. The classified group of suspicious calcifications among DCIS and benign breast disease is clinically important to early evaluate patient risk factors and plan treatment options.Objectives: To compare imaging features of suspicious calcifications between DCIS and benign breast disease.Method: A retrospective study of 101 suspicious calcifications was performed at Thammasat University Hospital from June 2011 to October 2020. The calcifications were surgically excised by mammography-guided wire localisation. The mammographic features of the suspicious calcifications were reviewed according to the fifth edition of the American College of Radiology Breast Imaging-Reporting and Data System lexicon. For comparing between two groups, the student t-test, Fisher’s exact test and Mann-Whitney U test were used for statistical analyses. The logistic regression analysis was calculated for DCIS prediction.Results: The pathologic results of all 101 suspicious calcifications were DCIS (30 cases) and benign breast disease (71 cases). Linear morphology and segmental distribution correlated significantly with DCIS (p = 0.003 and p = 0.024, respectively). After multivariable analysis, fine linear calcification still significantly elevated the risk of DCIS (odd ratios, 51.72 [95% confidence interval: 2.61, 1022.89], p-value of 0.01), however, the odds of predicting DCIS was not statistically significant different among any distribution.Conclusion: Ductal carcinoma in situ calcification has contrasting morphology and distribution features compared to benign breast disease. The calcification descriptor is considered an important implement for early diagnosis and distinguishes DCIS from other benign breast conditions.Contribution: Calcification descriptor is considered an important implement for early diagnosis and distinguishment of DCIS from other benign breast conditions.

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.

This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low-risk pregnancies and apparently normal fetuses in non-consanguineous couples. A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed. Genetic counseling was provided, and detailed medical histories were obtained. High-risk pregnancies were excluded due to major ultrasound anomalies, sonographic soft markers, abnormal maternal biochemical screening, or family history suggestive of monogenic diseases as well as cases with pathogenic and likely pathogenic (P/LP) chromosomal microarray results. Exome analysis focused on ∼2100 genes associated with Mendelian genetic disorders. Variant analysis and classification followed the American College of Medical Genetics and Genomics (ACMG) guidelines. Among 1825 pES conducted, 1020 low-risk cases revealed 28 fetuses (2.7%) with potentially clinically significant variants indicating known monogenic diseases, primarily de novo dominant variants (64%). Among these 28 cases, 9 fetuses (0.9%) had the potential for severe phenotypes, including shortened lifespan and intellectual disability, and another 12 had the potential for milder phenotypes. Seven cases were reported with variants of uncertain significance (VUS) that, according to the ACMG criteria, leaned toward LP, constituting 0.7% of the entire cohort. Termination of pregnancy was elected in 13 out of 1020 cases (1.2%) in the cohort, including 7/9 in the severe phenotypes group, 2/12 in the milder phenotype group, and 4/7 in the VUS group. The 2.7% detection rate highlights the significant contribution of pES in low-risk pregnancies. However, it necessitates rigorous analysis, and comprehensive genetic counseling before and after testing.

Contemporary Predictors of Major Adverse Cardiovascular Events following Percutaneous Coronary Intervention: A Nationally Representative US Sample

Background: Patient outcomes after percutaneous coronary intervention (PCI) have improved over the last 30 years due to better techniques, therapies, and care processes. This study evaluated contemporary predictors of post-PCI major adverse cardiovascular events (MACE) and summarized risk in a parsimonious risk prediction model. Methods: The Cardiovascular Patient-Level Analytical Platform (CLiPPeR) is an observational dataset of baseline variables and longitudinal outcomes from the American College of Cardiology’s CathPCI Registry® and national claims data. Cox regression was used to evaluate 2–6 years of patient follow-up (mean: 2.56 years), ending in December 2017, after index PCI between 2012 and 2015 (N = 1,450,787), to examine clinical and procedural predictors of MACE (first myocardial infarction, stroke, repeat PCI, coronary artery bypass grafting, and mortality). Cox analyses of post-PCI MACE were landmarked 28 days after index PCI. Results: Overall, 12.4% (n = 179,849) experienced MACE. All variables predicted MACE, with cardiogenic shock, cardiac arrest, four diseased coronary vessels, and chronic kidney disease having hazard ratios (HRs) ≥ 1.50. Other major predictors of MACE were in-hospital stroke, three-vessel disease, anemia, heart failure, and STEMI presentation. The index revascularization and discharge prescription of aspirin, P2Y12 inhibitor, and lipid-lowering medication had HR ≤ 0.67. The primary Cox model had c-statistic c = 0.761 for MACE versus c = 0.701 for the parsimonious model and c = 0.752 for the parsimonious model plus treatment variables. Conclusions: In a nationally representative US sample of post-PCI patients, predictors of longitudinal MACE risk were identified, and a parsimonious model efficiently encapsulated them. These findings may aid in assessing care processes to further improve care post-PCI outcomes.

NSAID PRESCRIPTION SURVEY IN INTEGRATED TRADITIONAL AND WESTERN MEDICINE TREATMENT: ASSESSING GASTROINTESTINAL AND CARDIOVASCULAR RISKS

Introduction: Non-steroidal anti-inflammatory drug (NSAID) usage should be carefully considered based on gastrointestinal (GI) and cardiovascular (CV) risks. In light of restricted evidence, this study aims to assess the prescription of NSAIDs concerning the GI and CV risks in the integrated treatment of Traditional medicine (TM) and Western medicine (WM). Materials and method: A retrospective cross-sectional study was conducted on 393 medical records of inpatients using NSAIDs in 2022 at the Traditional Medicine Hospital of Ho Chi Minh City. GI and CV risks, as well as information regarding NSAID prescriptions, were recorded. A multivariable regression model was employed to identify factors associated with the prescription of NSAID groups. Results: NSAIDs were primarily prescribed for musculoskeletal and connective tissue disorders (87.28%). Approximately half of the cases exhibited moderate to high GI risk (47.59%), while for CV risk, there were 68.95% with moderate to very high risk. COX-2 inhibitors were the most commonly prescribed (94.66%), even when considering GI and CV risks separately. In the majority, NSAID prescriptions aligned with both risks according to American College of Gastroenterology (ACG) guidelines (73.79%). The prescription of NSAID groups was significantly influenced by patient gender, ailment type, and physician education (p&lt;0.05), but not by GI and CV risks (p&gt;0.05). Conclusion: Patients receiving NSAIDs in integrated TM and WM treatment often faced an increased GI and CV risk, with the majority adhering to ACG guidelines. However, GI and CV risks were not significantly considered for NSAID group selections. Multi-center studies should be conducted.

A fully autonomous robotic ultrasound system for thyroid scanning

The current thyroid ultrasound relies heavily on the experience and skills of the sonographer and the expertise of the radiologist, and the process is physically and cognitively exhausting. In this paper, we report a fully autonomous robotic ultrasound system, which is able to scan thyroid regions without human assistance and identify malignant nod- ules. In this system, human skeleton point recognition, reinforcement learning, and force feedback are used to deal with the difficulties in locating thyroid targets. The orientation of the ultrasound probe is adjusted dynamically via Bayesian optimization. Experimental results on human participants demonstrated that this system can perform high-quality ultrasound scans, close to manual scans obtained by clinicians. Additionally, it has the potential to detect thyroid nodules and provide data on nodule characteristics for American College of Radiology Thyroid Imaging Reporting and Data System (ACR TI-RADS) calculation.

Same evidence different recommendations: a methodological assessment of transatlantic guidelines for the management of valvular heart disease.

To identify methodological variations leading to varied recommendations between the American College of Cardiology (ACC)/American Heart Association (AHA) and the European Society of Cardiology (ESC)/European Association for Cardio-Thoracic Surgery (EACTS) valvular heart disease (VHD) Guidelines, and to suggest foundational steps towards standardizing guideline development. An in-depth analysis was conducted to evaluate the methodologies used in developing the Transatlantic Guidelines for managing VHD. The evaluation was benchmarked against the standards proposed by the Institute of Medicine. Substantial discrepancies were noted in the methodologies utilized in development processes, including writing committee composition, evidence evaluation, conflict of interest management, and voting processes. Furthermore, despite their mutual differences, both methodologies also demonstrate notable deviations from the IOM standards in several essential areas, including literature review and evidence grading. These dual variances likely influenced divergent treatment recommendations. For example, the ESC/EACTS recommends transcatheter edge-to-edge repair (TEER) for patients ineligible for mitral valve surgery, while the ACC/AHA recommends TEER based on anatomy, regardless of surgical risk. ESC/EACTS guidelines recommend a mechanical aortic prosthesis for patients under 60, while ACC/AHA guidelines recommend it for patients under 50. Notably, the ACC/AHA and ESC/EACTS guidelines have differing age cut-offs for surgical over transcatheter aortic valve replacement (<65 and <75 years, respectively). Variations in methodologies for developing CPGs have resulted in different treatment recommendations that may significantly impact global practice patterns. Standardization of essential processes is vital to increase the uniformity and credibility of CPGs, ultimately improving healthcare quality, reducing variability and enhancing trust in modern medicine.

[Genetic analysis of a fetus with cryptophthalmos due to variants of FREM2 gene].

To explore the genetic etiology of a fetus with cryptophthalmos detected by prenatal ultrasonography. A fetus undergoing induced labor at 32nd gestational week due to absence of bilateral eye fissures detected by prenatal ultrasonography in January 2017 was selected as the study subject. Umbilical cord blood sample from the fetus and peripheral blood samples from its parents were collected for the extraction of genomic DNA. Pathogenic variants were screened through whole exome sequencing (WES) and verified by Sanger sequencing. Pathogenicity of candidate variants was verified by bioinformatic analysis and protein structure simulation. Based on the results of genetic testing, prenatal diagnosis was provided to the couple upon their subsequent pregnancy. The couple had four adverse pregnancies previously. The aborted fetus was the fifth, with fused bilateral upper and lower eyelids, poorly developed eyeballs, adhesion of the cornea with the upper eyelid, low-set ears, and abnormal plantar creases, and was diagnosed with cryptophthalmos. WES and Sanger sequencing revealed that the fetus has harbored compound heterozygous variants of the FREM2 gene, namely c.4537G>A (p.D1513N) and c.7292C>T (p.T2431M). Both variants were unreported associated with cryptophthalmos previously. Protein structure simulation showed that they may lead to loss of hydrogen bonds in the protein product. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PM1_Supporting+PM2_Supporting+PM5+PP3+PP4; PM2_Supporting+PM3+PP3+PP4). The mother was performed prenatal diagnosis in her sixth pregnancy based on the variants detected in this family, and delivered a daughter with normal phenotype. The FREM2: c.4537G>A and c.7292C>T compound heterozygous variants probably underlay the pathogenesis of cryptophthalmos in this fetus. Above finding has enriched the mutational spectrum of the FREM2 gene.

[Clinical and genetic analysis of a patient with Baraitser-Winter syndrome due to variant of ACTG1 gene].

To explore the clinical features and genetic etiology of a child with Baraitser-Winter syndrome (BWS). A BWS child who had sought medical attention at the Linyi People's Hospital on April 8, 2022 was selected as the study subject. Clinical data of the child was collected, and peripheral blood samples were obtained from the child and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The child, a 5-year-and-6-month-old male, had typical clinical features of BWS including congenital non-myogenic ptosis, arched eyebrows, wide philtrum, and pointed chin. Neurological symptoms included microcephaly, developmental delay, epilepsy, and deafness. Cranial MRI revealed enlarged frontal lobes, decreased white matter, and hydrocephalus. WES has identified a heterozygous c.430G>A (p.Asn144Tyr) missense variant in the ACTG1 gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+PM2_Supporting+PP3_Moderate+PP4). The heterozygous c.430G>A (p.Asn144Tyr) missense variant of the ACTG1 gene probably underlay the pathogenesis of BWS in this child. Above finding has enriched the mutation spectrum of BWS-related genes and provided a basis for clinical diagnosis and genetic counseling.

[Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene].

To explore the clinical features and genetic etiology of a child with SPONASTRIME dysplasia (SD). A 9-month-old female who had presented at the Linyi People's Hospital in August 2022 for short stature was selected as the study subject. Clinical data of the child were collected, and whole exome sequencing (WES) was carried out. Sanger sequencing was used for validating the candidate variants. The child has manifested short stature, mid-face hypoplasia, joint laxity, internal knee rotation, irregularities in the metaphysis of long bones, and flat and concave lumbar vertebrae. WES revealed that she has harbored compound heterozygous variants of the TONSL gene, namely c.3088G>T (p.Glu1030*) and c.3053G>A (p.Arg1018His), which were inherited from her phenotypically normal parents. Neither variant was reported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.3088G>T variant was classified as likely pathogenic (PVS1+PM2_Supporting), whilst the c.3053G>A was classified as a variant of uncertain significance (PM2_Supporting+PM3+PP3). The c.3088G>T and c.3053G>A compound heterozygous variants of the TONSL gene probably underlay the pathogenesis in this patient. Above finding has facilitated the clinical diagnosis and genetic counseling for her family.

Outcomes from 871,441 Consecutive Surgical Procedures without Overlap or with Maximally Permissible Non-Concurrent Overlap.

To isolate the impact of subsumed surgery (a shorter procedure completed entirely during overlapping non-critical portions of a longer antecedent procedure) on patient outcomes. The American College of Surgeons recently recommended the elimination of "concurrent surgery" with overlap during a procedure's critical portions. Guidelines for non-concurrent overlap have been established, but the safety of subsumed surgery remains to be examined. All consecutive procedures from 2013 to 2021 within a multihospital academic medical center were included (n=871,441). Simple logistic regression was performed to compare postoperative events between patients undergoing non-overlap surgery (n=533,032) and completely subsumed surgery (n=11,319). Thereafter, coarsened exact matching was used to match patients with non-overlap and subsumed surgery 1:1 on CPT code, 18 demographic features, baseline health characteristics, and procedural variables (n=7,146). Exact-matched cases were subsequently limited to pairs performed by the same surgeon (n=5,028). Primary outcomes included 30-day readmission, ED visits, and reoperations. Univariate analysis suggested that subsumed surgery had a higher 30-day risk of readmission (OR 1.55, P<0.0001), ED evaluation (OR 1.19, P<0.0001), and reoperation (OR 1.98, P<0.0001). When comparison was limited to the exact same procedure and patients were matched on demographics and health characteristics, there were no outcome differences between patients with subsumed surgery and non-overlapping surgery, even when limiting analyses to the same surgeon. Similar surgeries for similar patients result in similar outcomes whether there is completely subsumed or no overlap. Individual surgeons performing a specific procedure have no outcome differences with subsumed and non-overlapping cases.

[Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome].

To analyze the clinical phenotype and genetic basis of a Chinese pedigree affected with Otopalatodigital syndrome type 1 (OPD1). A pedigree which was evaluated at the Department of Endocrinology, General Hospital of the Central Theater Command on December 3, 2020 was selected as the study subject. Clinical phenotype and genetic features of the proband were analyzed. Whole exome sequencing was employed to screen for genetic variants in the proband, and Sanger sequencing was used to verify the candidate variants in the proband's mother, uncle, maternal aunt, and paternal aunt. Pathogenicity analysis was also conducted for the candidate variants. The proband, a 16-year-old male, had shown distinctive facial features including mildly prominent eyebrows, down-slanting palpebral fissures, hypertelorism, and depressed nasal bridge. Additionally, he had clubbing of bilateral thumbs and big toes, and central type diabetes insipidus. Genetic sequencing revealed that he has harbored a heterozygous c.586C>T (p.R196W) missense variant of the FLNA gene (NM_001110556.2), which was also carried by his mother and uncle. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), this variant was classified as likely pathogenic (PM1+PM2_Supporting+PP2+PP3+PS4 Supporting). The heterozygous c.586C>T (p.R196W) variant of the FLNA gene probably underlay the pathogenesis in this OPD1 family. The central type diabetes insipidus in the proband may represent a newly discovered phenotype of OPD1. Above finding has contributed crucial information for the comprehensive understanding of the clinical manifestations and pathogenic mechanisms of OPD1.

[Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].

To analyze the clinical features and genetic etiology of 17 Chinese pedigrees affected with X-linked intellectual disability (XLID). Seventeen pedigrees affected with unexplained intellectual disability which had presented at Henan Provincial People's Hospital from May 2021 to May 2023 were selected as the study subjects. Clinical data of the probands and their pedigree members were collected. Trio-whole exome sequencing (Trio-WES), Sanger sequencing and X chromosome inactivation (XCI) analysis were carried out. Pathogenicity of candidate variants was predicted based on the guidelines from the American College of Medical Genetics and Genomics and co-segregation analysis. The 17 probands, including 9 males and 8 females with an age ranging from 0.6 to 8 years old, had all shown mental retardation and developmental delay. Fourteen variants were detected by genetic testing, which included 4 pathogenic variants (MECP2: c.502C>T, MECP2: c.916C>T/c.806delG, IQSEC2: c.1417G>T), 4 likely pathogenic variants (MECP2: c.1157_1197del/c.925C>T, KDM5C: c.2128A>T, SLC6A8: c.1631C>T) and 6 variants of uncertain significance (KLHL15: c.26G>C, PAK3: c.970A>G/c.1520G>A, GRIA3: c.2153C>G, TAF1: c.2233T>G, HUWE1: c.10301T>A). The PAK3: c.970A>G, GRIA3: c.2153C>G and TAF1: c.2233T>G variants were considered as the genetic etiology for pedigrees 12, 14 and 15 by co-segregation analysis, respectively. The proband of pedigree 13 was found to have non-random XCI (81:19). Therefore, the PAK3: c.1520G>A variant may underlie its pathogenesis. Trio-WES has attained genetic diagnosis for the 17 XLID pedigrees. Sanger sequencing and XCI assay can provide auxiliary tests for the diagnosis of XLID.

[Clinical and genetic analysis of a Chinese patient with Alström syndrome].

To explore the genetic etiology for a patient with Alström syndrome (ALMS) presenting as dilated cardiomyopathy. A 41-year-old male patient who had presented at the Sixth Medical Center of PLA General Hospital on October 20, 2021 was selected as the study subject. Clinical and laboratory examinations were carried out. Whole exome sequencing (WES) was employed for genetic testing, and candidate variants were validated by Sanger sequencing and pathogenicity analysis. The patient had a 14-year medical history characterized by dilated cardiomyopathy, complete atrioventricular block, visual impairment, sensorineural hearing loss, truncal obesity, insulin resistance, type 2 diabetes, hypertension, renal dysfunction, and paranoid delusions. Genetic testing revealed that he has harbored compound heterozygous variants of the ALMS1 gene, namely c.6823C>T (p.Arg2275Ter) and c.9442_9445dup (p.Ser3149LysfsTer2). Sanger sequencing confirmed that they were inherited from his father and mother, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PVS1_VeryStrong+PM2_Supporting+PM3+PP3, PVS1_VeryStrong+PM2_Supporting+PM3). Literature review indicated that the complete atrioventricular block in the patient was a phenotype unreported previously. The c.6823C>T (p.Arg2275Ter) and c.9442_9445dup (p.Ser3149LysfsTer2) compound heterozygous variants of the ALMS1 gene probably underlay the pathogenesis in this patient. Above findings have expanded the phenotypic spectrum of ALMS and provided insights for clinicians dealing with similar cases.