The UTHealth Houston Adult Cardiovascular Genomics Certificate Program: Efficacy and Impact on Healthcare Professionals.

Background: The demand for genetic services has outpaced the availability of resources, challenging clinicians untrained in genetic integration into clinical decision-making. The UTHealth Adult Cardiovascular Genomics Certificate (CGC) program trains non-genetic healthcare professionals to recognize, assess, and refer patients with heritable cardiovascular diseases. This asynchronous online course includes 24 modules in three tiers of increasing complexity, using realistic clinical scenarios, interactive dialogues, quizzes, and tests to reinforce learning. We hypothesized that the CGC will increase genomic competencies in this underserved audience and encourage applying genomic concepts in clinical practice. Methods: Required course evaluations include pre- and post-assessments, knowledge checks in each module, and surveys for module-specific feedback. After 6 months, longitudinal feedback surveys gathered data on the long-term impact of the course on clinical practice and conducted focused interviews with learners. Results: The CGC was accredited in September 2022. Principal learners were nurses (24%), nurse practitioners (21%), physicians (16%), and physician assistants. Scores of 283 learners in paired pre- and post-assessments increased specific skills related to recognizing heritable diseases, understanding inheritance patterns, and interpreting genetic tests. Interviews highlighted the CGC's modular structure and linked resources as key strengths. Learners endorsed confidence to use genetic information in clinical practice, such as discussing genetic concepts and risks with patients and referring patients for genetic testing. Learners were highly likely to recommend the CGC to colleagues, citing its role in enhancing heritable disease awareness. Conclusions: The CGC program effectively empowers non-genetic clinicians to master genomic competencies, fostering collaboration to prevent deaths from heritable cardiovascular diseases, and potentially transforming healthcare education and clinical practice.

Resumen: Consenso internacional para la nomenclatura y clasificación de la válvula aórtica bicúspide congénita y su aortopatía, con fines clínicos, quirúrgicos, intervencionistas y de investigación / Summary: International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes

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Abstract This consensus of nomenclature and classification for congenital bicuspid aortic valve and its aortopathy is evidence-based and intended for universal use by physicians (both pediatricians and adults), echocardiographers, advanced cardiovascular imaging specialists, interventional cardiologists, cardiovascular surgeons, pathologists, geneticists, and researchers spanning these areas of clinical and basic research. In addition, as long as new key and reference research is available, this international consensus may be subject to change based on evidence-based data1.

Immulina® mitigates the development of illness when administered during the prodromal period of influenza viral infection in mice (Part 2).

BACKGROUND: Immulina®, a dietary supplement derived from Limnospira (formerly Arthrospira), is being investigated as a potential agent to increase antiviral resilience. In our recently published manuscript, we described the effects of Immulina® on influenza when taken daily, beginning before infection (prophylaxis) or after the onset of clinical symptoms of viral illness (therapeutic). However, the benefit of Immulina® in infected individuals before the manifestation of any symptoms (prodromal) has not been investigated yet. PURPOSE: To evaluate Immulina®'s potential use to increase the host antiviral immune response using a prodromal therapy regime. STUDY DESIGN: The efficacy of Immulina® extract was evaluated in rodents using a prodromal protocol (test material administered prior to the emergence of viral illness symptoms). METHODS: Immulina® (25, 50 and 100 mg/kg body weight) was orally administered to both genders of mice, 2 h following influenza A viral infection, and continued daily for 14 days. RESULTS: Compared to the infected control mice, animals fed Immulina® exhibited statistically significant reduction in the emergence of various physical symptoms of viral-induced illness and decreased viral RNA levels. The effects are likely mediated through the host immune system since the level of various cytokines (IL-6 and IFN-γ) were significantly increased in lung tissue. CONCLUSION: This study, together with our previous paper, indicate that Immulina® was most effective at enhancing immune antiviral resilience if administered before or soon after initial infection. The data generated can be used to guide additional research using human subjects.

Prophylactic and therapeutic mouse models for evaluating immunologic resilience to infection with influenza virus by Immulina® (Part 1).

BACKGROUND: Illness resulting from influenza is a global health problem that has significant adverse socioeconomic impact. Although various strategies such as flu vaccination have beneficial effects, the risk of this illness has not been eliminated. The use of botanicals may provide a complementary approach by enhancement of the host antiviral immune response. PURPOSE: Generate preclinical data using rodent models to determine the most effective utility of a Limnospira (formerly Arthrospira)-derived oral supplement (Immulina®) for enhancing host immunity to improve antiviral resilience. STUDY DESIGN: Two non-lethal mouse models (prophylactic and therapeutic) were used to evaluate the impact of Immulina® on increasing host resilience against experimental influenza infection. METHODS: Mice were fed Immulina® only for the 2 weeks prior to viral infection (prophylactic regime) or starting 3 days post-viral infection (at the onset of symptoms, therapeutic design). Three doses of Immulina® were evaluated in each model using both female and male mice. RESULTS: Significant protective effect of Immulina® against viral illness was observed in the prophylactic model (improved clinical scores, less body weight loss, decreased lung/body weight ratio, lower lung viral load, and increased lung IFN-γ and IL-6). Substantially less (minimal) protective effect was observed in the therapeutic model. CONCLUSION: This study demonstrates that Immulina® exerts a protective effect against influenza illness when administered using a prophylactic regime and may not be effective if given after the onset of symptoms. The results will help to optimally design future clinical trials.

Revolutionizing Relief: Cervical Radiculopathy With Neurological Deficits Rescued by Cervical Disc Replacement.

Cervical radiculopathy is a common condition characterized by neck pain radiating to the upper and lower limbs, often accompanied by tingling sensations, numbness, and weakness. We present the case of a 32-year-old male who presented with left-sided cervical radiculopathy and neurological deficits. Clinical examination revealed left C5/C6/C7 hypoesthesia, diminished grip strength, reduced power in the left upper and lower extremities, and a positive Spurling test. Magnetic resonance imaging (MRI) of the cervical spine revealed multilevel cervical disc herniations at C4-C5 and C5-C6 levels, resulting in stenosis. The patient underwent anterior cervical discectomies with artificial disc replacement (cervical disc arthroplasty (CDA)) at the C5-C6 level. The surgical procedure was uneventful, and the patient experienced prompt relief from neurological symptoms within two weeks postoperatively. Follow-up radiographs at one week post-surgery demonstrated a preserved range of motion at each operated level with the artificial disc in situ. This case highlights the successful management of cervical radiculopathy with neurological deficits using anterior cervical discectomy and artificial disc replacement. The timely intervention led to the resolution of symptoms and restoration of function, demonstrating the efficacy of this surgical approach in alleviating radicular symptoms and preserving cervical spine mobility. Further studies and long-term follow-up are warranted to validate the long-term outcomes and durability of artificial disc replacement in such cases.

Successful Surgical Intervention and Remarkable Recovery in a Child With Traumatic Spondyloptosis.

More than 100% of the traumatic subluxation of one vertebral body over another in the coronal or sagittal plane is known as traumatic spondyloptosis, which typically results in the contusion of the spinal cord. It is an uncommon yet severe spinal column injury. Here, we present traumatic lumbosacral spondyloptosis at the L5 and S1 levels with complete spinal cord compression with paraplegia and bowel and bladder involvement. The patient underwent posterior spinal fusion (delta fixation) and decompression. The patient improved his motor and sensory deficits at one-month follow-up. By the eighth-month follow-up, the patient had recovered entirely from his motor and sensory deficits and was stable for the entire year.

Clinical practice guidelines for the care of girls and women with Turner syndrome.

Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and United States culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: (1) diagnosis and genetics, (2) growth, (3) puberty and estrogen treatment, (4) cardiovascular health, (5) transition, (6) fertility assessment, monitoring, and counselling, (7) health surveillance for comorbidities throughout the lifespan, and (8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting.

Contrast Discrimination and Global Form Perception in Primary Open-Angle Glaucoma and Primary Angle-Closure Glaucoma.

Purpose: This study explored early (contrast discrimination) and intermediate (global form perception) visual processing in primary subtypes of glaucoma: primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG). We aimed to understand early and intermediate visual processing in POAG and PACG, matched for similar visual field defect severity. Methods: Early visual processing was measured using a contrast discrimination task described by Porkorny and Smith (1997), and intermediate processing using a global form perception task using glass pattern coherence thresholds. Thresholds were determined centrally and at a single midperipheral location (12.5°) in a quadrant without visual field defects. Controls were tested in corresponding quadrants to individuals with glaucoma. Results: Sixty participants (20 POAG, 20 PACG, and 20 age-matched controls), aged 50 to 77 years, were included. Visual field defects were matched between POAG and PACG, with mean deviation values of -6.53 ± 4.46 (range: -1.5 to -16.85) dB and -6.2 ± 4.24 (range: -1.37 to -16.42) dB, respectively. Two-Way ANOVA revealed significant differences in thresholds between the glaucoma groups and the control group for both contrast discrimination and global form perception tasks, with higher thresholds in the glaucoma groups. Post hoc analyses showed no significant contrast discrimination difference between POAG and PACG, but POAG had significantly higher thresholds than PACG for form perception. Conclusions: In form perception, POAG showed slightly worse performance than PACG, suggesting that individuals with POAG may experience more severe functional damage than PACG of similar visual field severity.

A Comprehensive Review of Proximal Humerus Fractures: From Epidemiology to Treatment Strategies.

This comprehensive review delves into the intricate landscape of proximal humerus fractures (PHFs), exploring their epidemiology, historical evolution, contemporary classification systems, treatment strategies, and outcome measures. PHFs present a complex orthopedic challenge, necessitating a nuanced understanding of their multifaceted dimensions. Despite their clinical significance, PHFs remain relatively understudied in population-based epidemiology. This review critically examines existing literature to uncover the incidence, prevalence, and demographic patterns associated with these fractures. A foundational understanding of the epidemiological landscape is crucial for effective preventive strategies and optimized fracture management. Tracing back to historical records, the review explores the evolution of diagnostic and therapeutic approaches for PHFs. From ancient treatment modalities documented on the Edwin Smith papyrus to contemporary X-ray-based classifications such as Neer and AO/OTA, a historical context is provided to understand the journey of managing these fractures. Navigating through a spectrum of treatment strategies, the review contrasts nonoperative approaches with various surgical interventions. The challenges and outcomes associated with conservative management are juxtaposed against methods like open reduction internal fixation and tension band osteosynthesis. Evidence synthesis guides clinicians in making informed decisions based on patient characteristics and fracture complexities. Central to assessing PHF management are patient-reported outcome measures. The review explores the significance of instruments such as the Disabilities of the Arm, Shoulder, and Hand (DASH) questionnaire and the Constant-Murley score in evaluating treatment success. The shift toward subjective measures is discussed, considering their correlation with patient experiences and the concept of minimal clinically important difference. The impact of demographic factors, including age and gender, on PHFs is scrutinized. The association between these fractures and osteoporosis is highlighted, emphasizing the crucial role of bone health in fracture prevention and management. Through this comprehensive exploration, the review provides a robust foundation for understanding, evaluating, and advancing the management strategies for PHFs. The synthesis of historical perspectives, contemporary classifications, and treatment modalities serves as a valuable resource for the orthopedic community, fostering improved clinical decision-making and patient outcomes.

Subvastus Arthrotomy and Multifaceted Fixation in Medial Femoral Comminuted Hoffa's Fracture: A Case Report.

In managing orthopedic trauma, Hoffa's fracture, a rare intra-articular fracture affecting the femoral condyle, presents a unique challenge. We report a case of a 45-year-old male patient who had a traumatic injury and complained of substantial knee discomfort and limited range of motion. The patient had a medial femoral comminuted Hoffa's fracture. Subvastus arthrotomy was employed to handle the fracture successfully, and then a locking reconstruction plate, Herbert screws, and 4 mm cannulated screws were used for precise reduction and fixation. At the one-year follow-up, the patient showed acceptable postoperative results, including recovered knee function and radiographic indications of fracture repair.

Zoledronic Acid Supplementation With Excision of a Giant Cell Tumor of the Distal End Radius to Prevent Recurrence: A Case Report.

Giant cell tumors are benign yet locally aggressive neoplasms commonly observed in the distal radius, exhibiting higher recurrence rates compared to other tumor types. This study presents a case involving a 50-year-old farmer who presented with swelling at the distal end of his wrist. The patient underwent treatment involving intralesional curettage and supplementation with zoledronic acid, resulting in a significant reduction in the tumor's potential for recurrence. This approach aims to achieve an optimal balance between functional outcomes and disease management in the majority of cases. While this strategy proves effective in most instances, there may be scenarios where resection becomes imperative due to the severity of the disease, ensuring adequate disease clearance. In such circumstances, judicious decision-making coupled with an appropriate treatment plan is crucial to guarantee a satisfactory outcome, even in the face of challenges.

Bicuspid Aortic Valve Disease With Early Onset Complications: Characteristics And Aortic Outcomes.

Bicuspid aortic valve (BAV) is the most common congenital heart malformation in adults but can also cause childhood-onset complications. In multicenter study, we found that adults who experience significant complications of BAV disease before age 30 are distinguished from the majority of BAV cases that manifest after age 50 by a relatively severe clinical course, with higher rates of surgical interventions, more frequent second interventions, and a greater burden of congenital heart malformations. These observations highlight the need for prompt recognition, regular lifelong surveillance, and targeted interventions to address the significant health burdens of patients with early onset BAV complications.

An Insight into Knowledge, Perspective, and Practices of Indian Optometrists towards Childhood Myopia.

The current understanding of clinical approaches and barriers in managing childhood myopia among Indian optometrists is limited. This research underscores the necessity and relevance of evidence-based practice guidelines by exploring their knowledge, attitude, and practice towards childhood myopia. A self-administered internet-based 26-item survey was circulated online among practicing optometrists in India. The questions assessed the demographics, knowledge, self-reported clinical practice behavior, barriers, source of information guiding their management, and extent of adult caregiver engagement for childhood myopia. Of 393 responses, a significant proportion of respondents (32.6-92.4%) were unaware of the ocular complications associated with high myopia, with less than half (46.5%) routinely performing ocular biometry in clinical practice. Despite the growing awareness of emerging myopia management options, the uptake remains generally poor, with single-vision distance full-correction spectacles (70.3%) being the most common mode of vision correction. Barriers to adopting optimal myopia care are medicolegal concerns, absence of clinical practice guidelines, and inadequate consultation time. Own clinical experience and original research articles were the primary sources of information supporting clinical practice. Most (>70%) respondents considered involving the adult caregiver in their child's clinical decision-making process. While practitioners' awareness and activity of newer myopia management strategies are improving, there is plenty of scope for its enhancement. The importance of evidence-based practice guidelines and continuing education on myopia control might help practitioners enhance their clinical decision-making skills.

Innovative Approach to Lateral Tibial Plateau Fracture: A Case Study on Anterolateral Submeniscal Arthrotomy With Cement Augmentation and Screw Fixation.

Lateral tibial plateau fractures are generally present as depressed fractures. The lateral tibial plateau is more common than the medial tibial plateau, often due to a bumper injury. If depressed fragments are more than 8-10 mm, then surgical management is usually needed. Anterolateral fixation is frequently used for unicondylar lateral tibial plateau fractures. Here, we present an articular depressed lateral tibia plateau fracture in a Schatzker type 3 case. The fracture was managed through an anterolateral approach with sub-meniscal arthrotomy, allowing for direct visualization and subsequent fixation using bone cement and a cannulated cancellous screw. Postoperative imaging confirmed proper reduction, and the patient had a satisfactory outcome..

Practice Patterns and Barriers to Vascular Genetic Testing Among Vascular Surgeons.

INTRODUCTION: Engaging patients living with or at risk of aortic dissection via the Aortic Dissection Collaborative, physician education in vascular genetics was identified as a research priority. We surveyed vascular surgeons to characterize practice patterns, motivations, and barriers regarding aortopathy genetic testing. METHODS: An anonymous 27-question survey was distributed on social media platforms between November and December 2022. Domains included demographics, vascular genetic education, testing attitudes and utilization, and experience in treating patients with genetic vascular aortopathies. The analysis included summary statistics and unpaired t-test to compare responses by interest in incorporating testing and practice type. RESULTS: A total of 171 vascular surgeons from 15 countries responded to the survey (23% trainees). Over half received vascular genetics education during training (59%), and most (86%) were interested in incorporating genetic testing into their practice. Academic surgeons were more likely to have cared for a patient with a known genetic aortopathy over the past year than surgeons in hospital-based and private practices (83% vs. 56% vs. 27%; P < 0.01), to have ever made a referral to a medical geneticist (78% vs. 51% vs. 9%; P < 0.01), and have access to genetic counselors or geneticists (66% vs. 46% vs. 0%; P < 0.01). Barriers to genetic testing were rated as more significant by surgeons in nonacademic practices, with top barriers being insurance coverage of testing, cost of genetic testing, and access to genetic counselors. Evidence-based professional society guidelines were the strongest rated motivating factor for testing incorporation among respondents. CONCLUSIONS: Vascular surgeon attitudes are not major barriers to incorporating genetic testing for patients with aortopathies; however, practical challenges regarding genetic testing and counseling are barriers to implementation especially for vascular surgeons in nonacademic practices. Future efforts should focus on evidence-based society guidelines, continuing medical education to increase adoption, and facilitating access to genetic counseling.

X-linked genetic associations in sporadic thoracic aortic dissection.

The male predominance in sporadic thoracic aortic aneurysm and dissection (TAD) suggests that the X chromosome contributes to TAD, but this has not been tested. We investigated whether X-linked variation-common (minor allele frequency [MAF] ≥0.01) and rare (MAF <0.01)-was associated with sporadic TAD in three cohorts of European descent (Discovery: 364 cases, 874 controls; Replication: 516 cases, 440,131 controls, and ARIC [Atherosclerosis Risk in Communities study]: 753 cases, 2247 controls). For analysis of common variants, we applied a sex-stratified logistic regression model followed by a meta-analysis of sex-specific odds ratios. Furthermore, we conducted a meta-analysis of overlapping common variants between the Discovery and Replication cohorts. For analysis of rare variants, we used a sex-stratified optimized sequence kernel association test model. Common variants results showed no statistically significant findings in the Discovery cohort. An intergenic common variant near SPANXN1 was statistically significant in the Replication cohort (p = 1.81 × 10-8). The highest signal from the meta-analysis of the Discovery and Replication cohorts was a ZNF182 intronic common variant (p = 3.5 × 10-6). In rare variants results, RTL9 reached statistical significance (p = 5.15 × 10-5). Although most of our results were statistically insignificant, our analysis is the most comprehensive X-chromosome association analysis of sporadic TAD to date.

Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry.

BACKGROUND: Many different clinical specialists provide care to patients with Turner syndrome (TS), who have highly variable clinical manifestations. Therefore, a national TS registry is essential to inform a cohesive approach to healthcare and research. In 2015, the Turner Syndrome Society of the United States (TSSUS) created the Turner Syndrome Research Registry (TSRR) to engage directly with community participants who voluntarily provide longitudinal data about their experiences with TS. TSRR projects are collaborative partnerships between people with TS, TSSUS, and researchers. RESULTS: To ensure that registry workflows conform to the data privacy choices of participants, TSSUS collaborated with UTHealth Houston in 2021 to create a new version of the TSRR that completely separates participant health data (stored at UTHealth) and personal identifiers (maintained at TSSUS). We developed an innovative Visual Basic (VB) script that, when embedded into Microsoft Outlook, redirects REDCap surveys through TSSUS to participants by matching registry IDs to participant email addresses. Additionally, the utilization of REDCap allows for portability of data as it is an open source platform. CONCLUSION: In this report, we will highlight three recent changes that more closely align the TSRR with this mission: a unique and equal collaborative partnership between UTHealth and TSSUS, an open-source platform, REDCap, that ensures data portability and compatibility across institutions, and an innovative survey routing system that retains participant confidentiality without sacrificing REDCap survey distribution capabilities to connect researchers with thousands of participants.

Design and development of a noninvasive ocular pressure estimator.

SIGNIFICANCE: A snapshot intraocular pressure (IOP) is ineffective in identifying the IOP peak and fluctuation, especially during sleep. Because IOP variability plays a significant role in the progression of glaucoma, monitoring the IOP, especially during sleep, is essential to capture the dynamic nature of IOP. PURPOSE: We aimed to design an ocular pressure estimator (OPE) that can reliably and accurately measure the IOP noninvasively over closed-eyelid condition. METHODS: Ocular pressure estimator works on the principle that the external pressure applied by raising the IOP of the eyeball is transmitted through a compressible septum to the pressure sensor, thus recording the IOP. A fluid-filled pouch with a pressure sensor was placed over a rubber glove mimicking the eyelid (septum), covering the cornea of enucleated goat eyeballs. A pressure-controlled setup was connected to a goat cadaver eye, which was validated by a rebound tonometer. Cannulation of eyeballs through the lower limbus had the least difference from the control setup values documented using rebound tonometer, compared with cannulation through the optic nerve. Intraocular pressures ranging from 3 to 30 mmHg was induced, and the outputs recorded using OPE were amplified and recorded for 10 minutes (n = 10 eyes). We stratified the randomization of the number of times and the induced pressures. RESULTS: The measurements recorded were found to be linear when measured against an IOP range of 3 to 30 mmHg. The device has excellent reliability (intraclass correlation coefficient, 0.998). The repeatability coefficient and coefficient of variations were 4.24 (3.60 to 4.87) and 8.61% (7.33 to 9.90), respectively. The overall mean difference ± SD between induced IOP and the OPE was 0.22 ± 3.50 (95% confidence interval, -0.35 to 0.79) mmHg across all IOP ranges. CONCLUSIONS: Ocular pressure estimator offers a promising approach for reliably and accurately measuring IOP and its fluctuation noninvasively under a condition mimicking a closed eye.