Clinical and Angiographic Profiles of Myocardial Infarction in a Young South Indian Population.

Introduction Myocardial infarction (MI) in young South Indians presents a shifting epidemiological landscape, challenging traditional perceptions of cardiovascular diseases. This study investigates the clinical and angiographic profiles of MI in this subgroup of the population in detail, emphasizing the interaction between lifestyle, environmental, and genetic factors that contribute to the incidence of MI in younger people. Methodology Utilizing a descriptive observational design, the study analyzed data from 70 young adults (aged 18-45 years) admitted to Frontier Lifeline Hospital, Chennai, with acute MI over six months. Patient demographics, clinical characteristics, and angiographic findings were collected and analyzed using standardized protocols. Statistical analysis employed chi-square tests and subgroup analyses to assess associations and differences between diabetic and non-diabetic patients. Results The study revealed a predominance of males (84.29%) among MI cases, with ST-elevation myocardial infarction (STEMI) being the most common presentation (52.86%). Anterior wall involvement was prevalent (50%), and left ventricular systolic dysfunction (LVSD) was observed in the majority (67%) of patients. Chest pain (87%) was the predominant symptom, and diabetes (47%) and hypertension (47%) were the risk variables that were most common. Angiographically, the left anterior descending artery (LAD) was often affected (51%), with single-vessel disease predominating (41.43%). Conclusion The findings underscore the significance of early detection and intervention strategies for MI in young South Indians. Gender-specific risk assessment, prompt diagnosis, and tailored treatment approaches are imperative. The high prevalence of LVSD highlights the burden of cardiac morbidity, particularly in diabetic individuals. Lifestyle modifications and weight management interventions are crucial for MI prevention. This study provides insights into the frequency and features of MI in young South Indians, emphasizing the importance of collaborative efforts for early identification and control of modifiable risk factors to mitigate the burden of coronary artery disease (CAD) in this population subset.

Clinical profiling of patients admitted with acute heart failure: a comprehensive survival analysis.

Background: In heart failure (HF), not all episodes of decompensation are alike. The study aimed to characterize the clinical groups of decompensation and perform a survival analysis. Methods: A retrospective study was conducted on patients consecutively admitted for HF from 2018 to 2023. Patients who died during admission were excluded (final number 1,668). Four clinical types of HF were defined: low cardiac output (n:83), pulmonary congestion (n:1,044), mixed congestion (n:353), and systemic congestion (n:188). Results: The low output group showed a higher prevalence of reduced left ventricular ejection fraction (93%) and increased biventricular diameters (p < 0.01). The systemic congestion group exhibited a greater presence of tricuspid regurgitation with dilatation and right ventricular dysfunction (p:0.0001), worse renal function, and higher uric acid and CA125 levels (p:0.0001). Diuretics were more commonly used in the mixed and, especially, systemic congestion groups (p:0.0001). The probability of overall survival at 5 years was 49%, with higher survival in pulmonary congestion and lower in systemic congestion (p:0.002). Differences were also found in survival at 1 month and 1 year (p:0.0001). Conclusions: Mortality in acute HF is high. Four phenotypic profiles of decompensation differ clinically, with distinct characteristics and varying prognosis in the short, medium, and long term.

Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.

BACKGROUND: Epilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In the Pakistani population, where financial limitations and geographical challenges hinder access to advanced diagnostic methods, understanding the genetic underpinnings of epilepsy and its associated conditions becomes crucial. METHODS: This study investigated four distinct Pakistani families, each presenting with epilepsy and a spectrum of comorbidities, using a combination of whole exome sequencing (WES) and Sanger sequencing. The epileptic patients were prescribed multiple antiseizure medications (ASMs), yet their seizures persist, indicating the challenging nature of ASM-resistant epilepsy. RESULTS: Identified genetic variants contributed to a diverse range of clinical phenotypes. In the family 1, which presented with epilepsy, developmental delay (DD), sleep disturbance, and aggressive behavior, a homozygous splice site variant, c.1339-6 C > T, in the COL18A1 gene was detected. The family 2 exhibited epilepsy, intellectual disability (ID), DD, and anxiety phenotypes, a homozygous missense variant, c.344T > A (p. Val115Glu), in the UFSP2 gene was identified. In family 3, which displayed epilepsy, ataxia, ID, DD, and speech impediment, a novel homozygous frameshift variant, c.1926_1941del (p. Tyr643MetfsX2), in the ZFYVE26 gene was found. Lastly, family 4 was presented with epilepsy, ID, DD, deafness, drooling, speech impediment, hypotonia, and a weak cry. A homozygous missense variant, c.1208 C > A (p. Ala403Glu), in the ATP13A2 gene was identified. CONCLUSION: This study highlights the genetic heterogeneity in ASM-resistant epilepsy and comorbidities among Pakistani families, emphasizing the importance of genotype-phenotype correlation and the necessity for expanded genetic testing in complex clinical cases.

Nominal Differences in Acute Symptom Presentation and Recovery Duration of Sport-Related Concussion Between Male and Female Collegiate Athletes in the PAC-12.

BACKGROUND: Sport-related concussion (SRC) is a heterogenous injury that often presents with varied symptoms and impairment. Recently, research has focused on identifying subtypes, or clinical profiles of concussion to be used in assessing and treating athletes with SRC. The purpose of this study was to investigate sex differences in clinical profiles, recovery duration, and initial symptom severity after SRC in a cohort of collegiate athletes in the Pacific-12 Conference (Pac-12). METHODS: This prospective cohort study examined post-SRC symptoms, recovery, and return-to-play times using data from the Pac-12 CARE Affiliated Program and Pac-12 Health Analytics Program. Clinical profiles reported by student-athletes were defined by the number (> 50%) of specific symptoms frequently reported for each profile. Generalized linear mixed models were used to examine associations among sex, clinical profiles, time-to-recovery, and return-to-play times. RESULTS: 479 concussion incidents met inclusion criteria. The probabilities of initial presentation of each clinical profile, initial injury severity scores, and recovery times within a profile did not differ between sexes (p = 0.33-0.98). However, both males and females had > 0.75 probabilities of exhibiting cognitive and ocular profiles. Initial injury severity score was a strong nonlinear predictor of initial number of clinical profiles (p < 0.0001), which did not differ between sexes. The number of clinical profiles was also a nonlinear predictor of time-to-recovery (p = 0.03) and return-to-play times (p < 0.0001). CONCLUSIONS: Initial symptom severity was strongly predictive of the number of acute clinical profiles experienced post-SRC. As the number of clinical profiles increased, time-to-recovery and time to return-to-play also increased. Factors other than sex may be better associated with acute symptom presentation post-concussion as no sex differences were found in reported clinical profiles or recovery. Understanding the number and type of clinical profiles experienced post-SRC may help inform concussion diagnostics and management.

Reliable Change Indices for the Serial Administration of the Concussion Clinical Profiles Screening Tool.

CONTEXT: The Concussion Clinical Profile Screening Tool (CP Screen) self-report concussion symptom inventory that is often administered at weekly intervals. However, 1-week reliable change indices (RCI) for clinical cutoffs and the test-retest reliability of the CP Screen is unknown. OBJECTIVE: Document RCI cutoff scores and 1-week test-retest reliability for each profile and modifier of the CP Screen for males and females. DESIGN: Case Series. SETTING: A large US university. PATIENTS OR OTHER PARTICIPANTS: 173 healthy college students. MAIN OUTCOME MEASURE(S): Participants completed two administrations of the CP Screen 7 days apart; CP Screen items yield five clinical profiles and two modifiers. Spearman rho coefficients (rs), intraclass correlation coefficients (ICCs) single measures and Unbiased Estimates of Reliability (UER) were used to assess test-retest reliability. Wilcoxon signed-rank tests assessed differences across time. RCI values and cutoff scores are provided at 90%/95% confidence intervals (CI). All analyses were performed for the total sample and separately for males and females. RESULTS: RCI cutoffs for clinically significant change (increase/decrease) at a 90% CI for males were as follows: Ocular, Vestibular >2/>4, Anxiety/Mood, Cognitive/Fatigue, Migraine>3/>3, Sleep >4/>6, and Neck>2/>2. RCI cutoffs for clinically significant change (increase/decrease) at a 90% CI for females were as follows: Anxiety/Mood≥2/≥4; Cognitive/Fatigue, Migraine, Ocular, Vestibular, Sleep≥3/≥3; and Neck≥1/≥1. Correlations for CP ranged from .51 (Migraine) to .79 (Anxiety/Mood) for the total sample, .48 (Migraine) to .84 (Vestibular) for males, and .51 (Migraine) to .77 (Ocular) for females. Test-retest indices for each profile and modifier were moderate to good for the total sample (ICC: .64-.82; UER: .79-.90), males (ICC: .60-.87; UER: .76-.94), and females (ICC: .64-.80; UER: .78-.89). CONCLUSION: The CP Screen is reliable and stable across a 1-week interval, and established RCIs for males and females can help identify meaningful change throughout recovery.

Total hip arthroplasty for adult patients with hip arthritis in Jordan: clinical profiles and patient characteristics.

PURPOSE: Total Hip Arthroplasty (THA) is one of the most commonly performed orthopaedic surgeries, with hip arthritis being the main indication. This procedure is usually performed when other non-surgical methods fail to relieve patients' hip pain and improve their quality of life. However, limited information exists to identify and compare the demographics and clinical characteristics of patients undergoing this procedure in Jordan. This study aims to identify these demographic and clinical characteristics and compare the findings in terms of gender differences. METHODOLOGY: This is a retrospective study that analysed the hospital records of 650 patients undergoing THA in tertiary referral hospital in Jordan over a four-year period from January 2019 to December 2022. The collected data were classified into three categories: demographic characteristics, perioperative variables, and patients' related health profiles. IBM's Statistical Package for the Social Sciences (SPSS) version 23 software (IBM, USA) and descriptive analysis were used for data analysis. RESULTS: Two-thirds of the sample studied were female (63.4%). In terms of bleeding profiles, the mean intraoperative blood loss was 542 millilitres. The major indication for THA was degenerative hip arthritis (50.5%), followed by hip dysplasia (40.3%).. Comparing the findings of the two gender groups, females were more likely to have degenerative and dysplastic hip arthritis (221 and 157, p = 0.04 and p = 0.1, respectively) when compared to males. Although males were more likely to lose more blood during the surgery (557 ml vs. 533 ml, p = 0.33, females needed more blood transfusions both during (21 vs. 6 patients, p = 0.12) and after the surgery (57 vs. 16 patients, p = 0.006). Furthermore, females were more likely to have comorbidities such hypertension (293 vs. 179 patients, p = 0.20), and hypothyroidism (313 vs 187, p = 0.36), and diabetes (85 vs. 38 patients, p = 0.15), among many other health conditions. However, in the study sample, male smokers outnumbered female smokers (132 vs. 63). CONCLUSION: Gender highly impacted the immediate surgical outcomes of patients who underwent THA. Females were more likely to need blood transfusions both during and after the surgery and had lower post-operative haemoglobin readings. In addition, females had more comorbidities and degenerative hip osteoarthritis. We believe that raising awareness about comorbidity management, preoperative smoking cessation, and perioperative blood transfusion management can improve medical and surgical outcomes.

Autistic clinical profiles, age at first concern, and diagnosis among children with autism spectrum disorder.

Background: To explore the relationship between autistic clinical profiles and age at first concern and diagnosis among children with autism spectrum disorder. The clinical profiles included the severity of autism, cognition, adaptability, language development, and regression. Methods: The multivariate linear regression model was used to examine the association of diagnostic age and first-concern age with autistic clinical profiles and with further stratification analysis. Results: A total of 801 autistic children were included. Language delay and regression were associated with earlier diagnostic age (language delay: crudeß: -0.80, 95%CI%: -0.92--0.68; regression: crudeß: -0.21, 95%CI%: -0.43--0.00) and the age of first concern of autistic children (language delay: crudeß: -0.55, 95%CI%: -0.65--0.45; regression: crudeß: -0.17, 95%CI%: -0.34--0.00). After stratification by sex, language delay tended to be more associated with the earlier diagnostic age among boys (crudeß: -0.85, 95%CI%: -0.98--0.72) than among girls (crudeß: -0.46, 95%CI%: -0.77--0.16). After stratification by maternal education level or family income level, language delay was most associated with the earlier diagnostic age in autistic children from families with higher socioeconomic levels. Conclusion: Language delay, rather than other symptoms, promoted an earlier diagnostic age. Among male autistic children or children from families with higher socioeconomic levels, language delay was most significantly associated with an earlier age of diagnosis. Cognitive delay, or adaptive delay, was associated with a later age at diagnosis and presented only in autistic children from families with lower socioeconomic levels. There may be sex or socioeconomic inequality in the diagnostic age for autistic children. More publicity and public education about the diversity of autistic symptoms are urgently needed in the future, especially for low-socioeconomic families.

Targeted multidomain intervention for complex mTBI: protocol for a multisite randomized controlled trial in military-age civilians.

Background: Mild traumatic brain injury (mTBI) affects ~18,000 military personnel each year, and although most will recover in 3-4 weeks, many experience persisting symptoms and impairment lasting months or longer. Current standard of care for U.S. military personnel with complex mTBI involves initial (<48 h) prescribed rest, followed by behavioral (e.g., physical activity, sleep regulation, stress reduction, hydration, nutrition), and symptom-guided management. There is growing agreement that mTBI involves different clinical profiles or subtypes that require a comprehensive multidomain evaluation and adjudication process, as well as a targeted approach to treatment. However, there is a lack of research examining the effectiveness of this approach to assessing and treating mTBI. This multisite randomized controlled trial (RCT) will determine the effectiveness of a targeted multidomain (T-MD) intervention (anxiety/mood, cognitive, migraine, ocular, vestibular; and sleep, autonomic) compared to usual care (behavioral management) in military-aged civilians with complex mTBI. Methods: This study employs a single-blinded, two-group repeated measures design. The RCT will enroll up to 250 military-aged civilians (18-49 yrs) with a diagnosed complex mTBI within 8 days to 6 months of injury from two concussion specialty clinics. The two study arms are a T-MD intervention and a usual care, behavioral management control group. All participants will complete a comprehensive, multidomain clinical evaluation at their first clinical visit. Information gathered from this evaluation will be used to adjudicate mTBI clinical profiles. Participants will then be randomized to either the 4-week T-MD or control arm. The T-MD group will receive targeted interventions that correspond to the patient's clinical profile (s) and the control group will receive behavioral management strategies. Primary outcomes for this study are changes from enrollment to post-intervention on the Neurobehavioral Symptom Inventory (NSI), Patient Global Impression of Change (PGIC), and functional near-infrared spectroscopy (fNIRS). Time to return to activity (RTA), and healthcare utilization costs will also be assessed. Discussion: Study findings may inform a more effective approach to treat complex mTBI in military personnel and civilians, reduce morbidity, and accelerate safe return-to-duty/activity. Ethics and dissemination: The study is approved by the University of Pittsburgh Institutional Review board and registered at clinicaltrials.gov. Dissemination plans include peer-reviewed publications and presentations at professional meetings. Clinical Trial Registration: www.clinicaltrials.gov, identifier: NCT04549532.

Clinical Profile and Pharmacological Management of Snakebites in Community Care Units: A Retrospective Study Using Two Military Hospital Databases in South Thailand.

Snakebite envenoming is an occupational hazard in remote rural areas of South Thailand, where the highest incidence of snakebites is reported. In this work, a hospital-based retrospective study of snakebite patients from 2012 to 2022 at Fort Wachirawut Hospital and Fort Thepsatrisrisunthon Hospital, located in Nakhon Si Thammarat province, Thailand was conducted. Data from the laboratory investigation, physical examinations of snakebite victims, and clinical management, including pharmacological and non-pharmacological treatments, were evaluated. A total of 54 snakebite victims were included. The median age of patients was 49 years (IQR, 28 to 63). Males accounted for 74.1% of all participants. The majority of patients were bitten by Malayan pit vipers (68.5%), followed by unidentified snakes (18.5%), other non-venomous snakes (7.4%), and cobras (5.6%). The most common clinical manifestations were swelling (90.2%) and local pain (73.2%). One patient experienced respiratory failure following an envenoming by an unidentified venomous snake. No deaths were observed in this study. In total, 24 patients received antivenom administration (44.4%), most of whom were from Fort Wachirawut Hospital. Patients who were administered antivenom showed a median admission duration of three days (IQR, 3 to 4), compared with two days (IQR, one to three) for those who did not receive antivenom treatment (p < 0.001). In addition, paracetamol and prophylactic antibiotics, namely, amoxicillin-clavulanate and dicloxacillin, were the most common pharmacotherapies following snakebites. Overall, it was observed that these two community hospitals undertook appropriate clinical management under the standard guidelines for snakebite patients. This might be due to the effective emergency management, facilities, and clinical consultations. Finally, the management process in the medical teams also plays a crucial role in minimizing the severity of snakebite outcomes.

Clinical phenotypes according to diuretic combination in acute heart failure.

BACKGROUND: The treatment of congestion in heart failure (HF) is a challenge despite the therapeutic arsenal available. The aim of this study was to analyze different combinations of diuretics used to resolve congestion in patients admitted for decompensated HF and to define clinical profiles according to these treatments. METHODS: Single-center study of 1,559 patients admitted for decompensated HF was done between 2016 and 2020. Patients were grouped according to the diuretic combination that led to clinical stabilization and discharge from the hospital: (1) Loop diuretic. (2) Loop diuretic + distal tubule (antialdosterone ± thiazides). (3) Loop diuretic + distal + proximal tubule (acetazolamide ± SGLT2 inhibitor). (4) Loop diuretic + distal tubule + collecting duct (tolvaptan). (5) Loop diuretic + distal + proximal + collecting duct. Based on these diuretic combinations, profiles with clinical, analytical, and echocardiographic differences were established. RESULTS: There were more previous hospitalizations in groups 4 and 5 (p = 0.001) with a predominance of pulmonary congestion in profiles 1 and 2 and systemic congestion in 3, 4, and 5. Creatinine and CA125 were higher in profiles 4 and 5 (p = 0.01 and p = 0.0001), with no differences in NT-proBNP. Profiles 4 and 5 had a higher proportion of dilatation and depression of right ventricular (p = 0.0001) and left ventricular (p = 0.003) function. Diuretic therapy-defined groups showed difference in clinical characteristics. CONCLUSIONS: The diuretic treatment used identifies five clinical profiles according to the degree of congestion, renal function, CA125, and right ventricular functionality. These profiles would guide the best diuretic treatment on admission.

Human Leukocyte Antigen Alleles Compatibility and Immunophenotypic Profile Associations in Infertile Couples.

INTRODUCTION: The maternal immune system has a major role in the successful embryo implantation and maintenance of the pregnancy. This study aimed to investigate the maternal immunophenotyping profile (percentage of Natural Killer [NK] cells and the CD4/CD8 [cluster designation] ratio in peripheral blood lymphocytes) and the HLA (Human Leukocyte Antigen)-DQA1 alleles sharing in infertile couples. METHODS: This cross-sectional study included 78 women who had experienced at least two spontaneous miscarriages and 110 women with a history of recurrent implantation failures after in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) and embryo transfer (ET) (IVF-ET failures). The NK cell percentage and the CD4/CD8 ratio were determined by flow cytometry. Genotyping of the HLA-DQA1 alleles was carried out for all women and their partners, and couple HLA-DQA1 compatibility was expressed as the percentage of common HLA-DQA1 alleles (totaling 35 alleles) shared between spouses to the sum of the unique alleles observed. RESULTS: In women with recurrent miscarriages, high values (%) of the NK population with a median (interquartile range [IQR]) of 10.3% (7.7% to 12.5%) and CD4/CD8 ratio (1.7) (1.5 to 2.1) were found. In women with IVF-ET failures, the (%) NK population (10.5%) (8.6% to 12.5%) and CD4/CD8 ratio (1.8) (1.5 to 2.1) were similarly increased (p=0.390, and p=0.490, respectively). The proportion of women with >10% NK cells was 53.8% and 58.2% in women with miscarriages and IVF-ET failures, respectively (p=0.554). The prevalence of HLA-DQA1*5 allele carriage was elevated in women with miscarriages as well as those with IVF-ET failures (52.6% and 61.8%, respectively; p=0.206). The proportion of couples with high (>50%) HLA-DQA1 sharing was 65.4% in the group with miscarriages and 73.6% in the group with IVF-ET failures, respectively (p=0.222). The CD4/CD8 ratio was statistically significantly positively correlated with the (%) NK population in women with IVF-ET failures (rho = 0.297, p=0.002) and with the (%) HLA-DQA1 sharing in the group with miscarriages (rho = 0.266, p=0.019). The couples in which both spouses were carriers of the HLA-DQA1*5 allele had an increased probability of high (>50%) HLA-DQA1 compatibility compared with the couples in which neither of the spouses carried the allele in the miscarriage group (OR = 24.3, 95% CI: 3.0 to 198.9, p<0.001), and the IVF-ET failure group (OR = 10.5, 95% CI: 2.2 to 49.8, p<0.001). CONCLUSION: The peripheral NK (%) population and CD4/CD8 ratio, as well as the prevalence of the HLA-DQA1*5 allele, were elevated in women with recurrent miscarriages and IVF-ET failures. Furthermore, these couples with negative reproductive outcomes had a high percentage of HLA-DQA1 allele similarity. The presence of the HLA-DQA1*5 allele in spouses was strongly associated with overall couple HLA-DQA1 compatibility, implying that it could be used as a surrogate marker for assessing overall immunological compatibility in infertile couples.

Phenotypic patient profiling for improved implementation of guideline-directed medical therapy: An exploratory analysis in a large real-world chronic heart failure cohort.

Aims: Implementation of guideline-recommended pharmacological treatment in heart failure (HF) patients remains challenging. In 2021, the European Heart Failure Association (HFA) published a consensus document in which patient profiles were created based on readily available patient characteristics and suggested that treatment adjusted to patient profile may result in better individualized treatment and improved guideline adherence. This study aimed to assess the distribution of these patient profiles and their treatment in a large real-world chronic HF cohort. Methods and results: The HFA combined categories of heart rate, blood pressure, presence of atrial fibrillation, chronic kidney disease, and hyperkalemia into eleven phenotypic patient profiles. A total of 4,455 patients with chronic HF and a left ventricular ejection fraction ≤40% with complete information on all characteristics were distributed over these profiles. In total, 1,640 patients (36.8%) could be classified into one of the HFA profiles. Three of these each comprised >5% of the population and consisted of patients with a heart rate >60 beats per minute with normal blood pressure (>90/60 mmHg) and no hyperkalemia. Conclusion: Nearly forty percent of a real-world chronic HF population could be distributed over the eleven patient profiles as suggested by the HFA. Phenotype-specific treatment recommendations are clinically relevant and important to further improve guideline implementation.

[Clinical features of 8 patients with multifocal motor neuropathy in the long-term follow-up].

OBJECTIVE: To clarify the clinical and long-term characteristics of multifocal motor neuropathy (MMN). METHODS: We retrospectively evaluated data from 8 consecutive MMN patients in Yamaguchi University Hospital from 2005 to 2020. Clinical information including dominant hand, occupations, hobbies, nerve conduction data, protein level in cerebrospinal fluid (CSF), responsiveness to intravenous immunoglobulin (IVIg) therapy as initial therapy as well as maintenance therapy were collected. RESULTS: Unilateral upper limb was initially affected in all patients and a dominant upper extremity was affected in six of them. Seven patients had occupations or hobbies which were associated with overuse of their dominant upper extremity. CSF protein level was normal or slightly elevated. Nerve conduction studies showed conduction blocks in 4 cases. Effectiveness of IVIg treatment as initial therapy was observed in all patients. Maintenance therapy was not needed in 2 patients because of mild symptoms with stable clinical course. Long-term maintenance therapy with immunoglobulin was effective in 5 patients during the follow-up period. CONCLUSION: Dominant upper extremity was frequently affected and most patients had job or habit associated with its overuse, suggesting that physical overload induces inflammation or demyelination in MMN. IVIg was commonly effective as both introduction and long-term maintenance therapies. Complete remission was achieved after several IVIg treatments in some patients.

Association of Multidomain Assessment Outcomes With Referral for Vestibular Therapy After Concussion.

CONTEXT: Multiple aspects of a multidomain assessment have been validated for identifying concussion; however, researchers have yet to determine which components are related to referral for vestibular therapy. OBJECTIVE: To identify which variables from a multidomain assessment were associated with receiving a referral for vestibular therapy after a concussion. DESIGN: Retrospective chart review, level of evidence 3. PATIENTS OR OTHER PARTICIPANTS: Participants (n = 331; age = 16.9 ± 7.2 years; 39.3% female) were diagnosed with a concussion per international consensus criteria by a clinical neuropsychologist after presenting to a concussion specialty clinic. MAIN OUTCOME MEASURE(S): Medical chart data were extracted from the first clinical visit regarding preinjury medical history, computerized neurocognition, Post-Concussion Symptom Scale, Concussion Clinical Profiles Screen, and Vestibular Ocular Motor Screening within 16.2 ± 46.7 days of injury. We built 5 backwards logistic regression models to associate the outcomes from each of the 5 assessments with referral for vestibular therapy. A final logistic regression model was generated using variables retained in the previous 5 models as potential predictors of referral for vestibular therapy. RESULTS: The 5 models built from individual components of the multidomain assessment predicted referral for vestibular therapy (R2 = 0.01-0.28) with 1 to 6 statistically significant variables. The final multivariate model (R2 = 0.40) retained 9 significant variables, represented by each of the 5 multidomain assessments except neurocognition. Variables that had the strongest association with vestibular therapy referral were motor vehicle accident mechanism of injury (odds ratio [OR] = 15.45), migraine history (OR = 3.25), increased headache when concentrating (OR = 1.81), and horizontal vestibular ocular reflex (OR = 1.63). CONCLUSIONS: We demonstrated the utility of a multidomain assessment and identified outcomes associated with a referral for vestibular therapy after a concussion.

PULMOEAST: A Comprehensive Analysis of Pulmonary Hypertension in Eastern India.

Background Pulmonary hypertension (PH) is a debilitating cardiovascular disorder characterized by abnormally elevated blood pressure within the lungs. The diverse range of causes and varied clinical presentations contribute to the complexity of its diagnosis and management. In eastern India and surrounding areas, awareness of PH remains limited, and resources for its management are scarce. This study aims to address this knowledge gap by investigating clinical characteristics and treatment approaches adopted for PH patients in eastern India. Methods This retrospective-prospective cohort study included patients diagnosed with PH, defined by a pulmonary artery systolic pressure (PASP) > 50 mmHg or a mean pulmonary artery pressure (mPAP) >20 mmHg, between July 2015 and October 2023. Data retrieved from hospital records formed the retrospective cohort, while the prospective cohort comprised patients directly recruited for the study. Results The PULMOEAST study enrolled 93 patients with confirmed PH, divided into prospective (59 patients) and retrospective (34 patients) cohorts. The most prevalent cause of PH was congenital heart disease (CHD), with shunt lesions (59.13%), followed by complex CHD (13.97%) and idiopathic PH (20.43%). Six additional patients presented with rare causes of PH, and three experienced transient PH following atrial septal defect device closure. Geographic distribution revealed that 72.04% of patients originated from eastern India, while 18.27% hail from other eastern states and 8.6% from neighboring countries. Patients exhibited varying functional classes (FC), with 57 classified as FC-II and 31 classified as FC-III. Treatment strategies primarily involve supportive medications and pulmonary vasodilators. Monotherapy was administered to 26 patients (27.95%), dual therapy to 50 patients (53.76%), and triple therapy to one patient. Notably, 16 patients did not receive any vasodilator therapy as they were waiting for further evaluation. Among the vasodilator regimen, two patients received Selexipag. Three patients underwent intervention for shunt lesion closure, including one patient who received a fenestrated atrial septal occluder implant. Additionally, one patient underwent clot removal for pulmonary thromboembolism. Despite the overall positive response to treatment, the study recorded eight fatalities (8.6%) during the observation period. However, most patients exhibited significant improvement, including a decrease in functional class, during a mean follow-up duration of 14.31 months. Conclusion The PULMOEAST study undertook a comprehensive exploration of PH in eastern India and surrounding regions, revealing a stark dominance of CHD as the primary culprit. The study confirmed the pivotal role of echocardiography as a readily available and effective tool for both initial and follow-up evaluations in resource-scarce settings. It painted a hopeful picture by showcasing significant clinical improvement in most treated patients, with supportive medications and pulmonary vasodilators playing a crucial role. However, the diverse etiologies, limited access to PH-specific resources, and lack of widespread awareness within the region continue to pose substantial challenges for patients. The study underscores the need for refined diagnostic approaches, cost-effective management strategies, collaborative care initiatives, and enhanced patient education to optimize PH care and improve outcomes in eastern India.

Sex Differences in Stroke Risk Factors, Clinical Profiles, and In-Hospital Outcomes Among Stroke Patients Admitted to the Medical Ward of Dessie Comprehensive Specialized Hospital, Northeast Ethiopia.

Background: A stroke is a vascular accident that affects both men and women. The threat of stroke and outcome status differ between the sexes. Such data are lacking in Ethiopia. Therefore, this study assessed sex differences in stroke risk factors, clinical profiles, and outcomes in the medical ward of Dessie comprehensive specialized hospital. Methods: A retrospective cross-sectional study was employed among stroke patients. Medical records with complete information and a confirmed diagnosis of stroke using imaging techniques were included in the study. Using simple random sampling, 344 medical records were selected, 312 of which fulfilled the inclusion criteria. Bivariate and multivariate logistic regression analyses and a chi-square test were employed. The frequency, percentage, and mean and standard deviation of the variables were described using descriptive statistics. Findings with a P-value <0.05 were considered statistically significant. Results: Most of the patients were above or equal to 45 years old in both sexes. A significantly higher number of male than female patients were aged less than 45 years (p-value-0.001). Younger age (AOR: 2.998, p = 0.000), cigarette smoking (AOR: 2.911, p = 0.009), and Khat chewing (AOR: 3.650, p = 0.001) were risk factors for stroke in males. A higher number of males presented with hemiplegia/hemiparesis 89 (28.5%), aphasia 45 (14.4%), and facial palsy 19 (6.1%). However, more females were unconscious (15.1%). Significant differences were not seen in the stroke outcomes. Furthermore, there were no apparent differences in risk factors for stroke-related mortality. Conclusion: Males developed stroke at a younger age. Women were older at the time of stroke onset and presented unconscious. More males experienced hemiplegia/hemiparesis, aphasia, and facial palsy. Smoking, drinking, and khat chewing were risk factors for stroke in men. There were no gender differences in the stroke death rate. Therefore, educating the public about stroke risk factors, lifestyle modification, and conducting prospective research is required.

CCNO mutation as a cause of primary ciliary dyskinesia: A case report.

BACKGROUND: Primary ciliary dyskinesia (PCD) is an uncommon and genetically diverse condition. According to reports, most patients had more than 50 visits before being diagnosed with PCD, and the age at diagnosis was mostly in preschool, with an average age of about (10.9 ± 14.4) years old. CCNO is a pathogenic gene that regulates the cell cycle, and its mutation is linked to the uncommon human genetic disorder PCD. Although the prevalence of the CCNO mutation is regarded to be exceptionally low, new reports of this mutation have increased in comparison to prior ones. PCD patients with CCNO are rare, and the incidence rate is no more than 2% in whole PCD patients. CASE SUMMARY: Here, we report a case of a young Chinese woman diagnosed with PCD, who was found to carry the CCNO gene by whole exon gene sequencing. In this case, a young non-smoking Chinese female exhibiting recurrent cough and sputum at birth. Chest computed tomography (CT) showed bronchiectasis with infection, and sinus CT showed chronic sinusitis. However, the patient had no visceral transposition and no history of infertility. Under electron microscope, it was found that cilia were short and reduced in number, and no power arm of cilia was observed. Whole exon sequencing analysis of the genome of the patient showed that the patient carried CCNO pathogenic gene, exon c.303C>A nonsense mutation and c.248_252dup frameshift mutation. Her clinical symptoms and CT images were improved after two months of treatment with aerosol inhalation and oral azithromycin. CONCLUSION: The results showed that CCNO is an important cause of PCD. More mutant genes that may contribute to genetically diverse disorders like PCD have been discovered as sequencing technology has advanced. Furthermore, the increase of genetic information makes it easier to diagnose uncommon diseases in clinical practice.

Clinical Profiles at the Time of Diagnosis of SARS-CoV-2 Infection in Costa Rica During the Pre-vaccination Period Using a Machine Learning Approach.

The clinical manifestations of COVID-19, caused by the SARS-CoV-2, define a large spectrum of symptoms that are mainly dependent on the human host conditions. In Costa Rica, more than 169,000 cases and 2185 deaths were reported during the year 2020, the pre-vaccination period. To describe the clinical presentations at the time of diagnosis of SARS-CoV-2 infection in Costa Rica during the pre-vaccination period, we implemented a symptom-based clustering using machine learning to identify clusters or clinical profiles at the population level among 18,974 records of positive cases. Profiles were compared based on symptoms, risk factors, viral load, and genomic features of the SARS-CoV-2 sequence. A total of 18 symptoms at time of diagnosis of SARS-CoV-2 infection were reported with a frequency > 1%, and those were used to identify seven clinical profiles with a specific composition of clinical manifestations. In the comparison between clusters, a lower viral load was found for the asymptomatic group, while the risk factors and the SARS-CoV-2 genomic features were distributed among all the clusters. No other distribution patterns were found for age, sex, vital status, and hospitalization. In conclusion, during the pre-vaccination time in Costa Rica, the symptoms at the time of diagnosis of SARS-CoV-2 infection were described in clinical profiles. The host co-morbidities and the SARS-CoV-2 genotypes are not specific of a particular profile, rather they are present in all the groups, including asymptomatic cases. In addition, this information can be used for decision-making by the local healthcare institutions (first point of contact with health professionals, case definition, or infrastructure). In further analyses, these results will be compared against the profiles of cases during the vaccination period. Supplementary Information: The online version contains supplementary material available at 10.1007/s43657-022-00058-x.

Clinical features and prognosis of patients with and without diabetes mellitus undergoing endovascular aortic aneurysm repair.

BACKGROUND: This study aimed to compare the clinical features and prognoses of patients with and without diabetes mellitus (DM) who underwent endovascular repair for aortic aneurysm (AA). METHODS: We analyzed the clinical database of a prospective multicenter study, registering 929 patients who underwent their first endovascular AA repair in Japan between January 2016 and June 2018. The baseline characteristics and prognoses (including all-cause mortality and cardiovascular events) after repair were compared between the DM and non-DM groups. Prognoses were also compared between the groups after propensity score matching. RESULTS: In total, 226 patients (24.3%) had DM. Compared with non-DM patients, DM patients had higher pack-years of smoking (P = 0.011), higher body mass index (P = 0.009), lower high-density lipoprotein cholesterol levels (P = 0.038), higher triglyceride levels (P = 0.025), and lower left ventricular ejection fraction (P = 0.005). Meanwhile, the low-density lipoprotein cholesterol and blood pressure levels showed no significant intergroup difference (all P > 0.05). DM patients had a higher prevalence of myocardial infarction (P = 0.016), history of coronary revascularization (P = 0.015), and lower extremity artery disease (P = 0.019). Lesion characteristics and procedures were similar between the groups (all P > 0.05). DM patients had a higher risk of all-cause mortality and cardiovascular events than non-DM patients (both P < 0.001). Subsequent propensity score matching also demonstrated that DM patients had a significantly lower rate of overall survival (P = 0.001) and freedom from cardiovascular events (P = 0.010). The Kaplan-Meier estimates at 1 year for the overall survival were 85.6% (95% confidence interval [CI], 80.9% to 90.5%) and 94.3% (95% CI, 91.7% to 97.0%) for patients with and without DM, respectively. The corresponding estimates for freedom from cardiovascular events were 79.8% (95% CI, 74.5% to 85.5%) and 87.7% (95% CI, 84.2% to 91.3%), respectively. CONCLUSIONS: Among patients undergoing endovascular AA repair, those with DM had more cardiovascular risk factors. DM patients had a higher incidence rate of all-cause mortality and cardiovascular events. Matching analysis indicated that DM per se would be a risk factor for poor prognoses after AA repair.

Data mining-based clinical profiles of substance use-related emergency department utilizers.

OBJECTIVE: Substance-use is a prevalent presentation to the emergency department (ED); however, the clinical characterization of patients who are treated and discharged without admission for further treatment is under-investigated. The study aims to define and characterize the clinical profiles of this patient population. METHODS: Patients' presentations were examined by clinical data mining (chart review) of ED records of substance use-related events of individuals discharged without admission for further treatment. Records (N = 199) from three major hospitals in New York City from March and June 2017 were randomly sampled with primary diagnosis of alcohol, opioid-related and other psychoactive substance-use presentations. Qualitative thematic coding of clinical presentation with inter-rater reliability was performed. Quantitative distinctive validity tested independence through Pearson's chi-squared and analysis of variance using Fisher's F-test. RESULTS: Six distinct clinical profiles were identified, including, High Utilizers (chronically intoxicated with comorbid health conditions) (36.7%), Single Episode (20.1%), Service Request (14.1%), Altered Mental Status (13.6%), Overdose (9.0%), and Withdrawal (7.5%). The profiles differed (p < 0.05) in age, housing status, payor, mode of arrival, referral source, index visit time, prescribed treatment, triage acuity level, psychiatric history, and medical history. Differences (p < 0.05) between groups across clinical profiles in age and pain level at triage were observed. CONCLUSIONS: The identified clinical profiles represent the broad spectrum and complex nature of substance use-related ED utilization, highlighting critical factors of psychosocial and mental-health comorbidities. These findings provide a preliminary foundation to support person-centered interventions to decrease substance use-related ED utilization and to increase engagement/linkage of patients to addiction treatment.