Clinical Characteristics Of Patients Research Articles

Clinical characteristics of 29 cases of pulmonary mucormycosis treated with and without surgery

Objective: To analyze the clinical characteristics of patients with pulmonary mucormycosis treated with and without surgery. Methods: This was a single-center, retrospective study. We retrieved "pulmonary mucormycosis" from the electronic medical records of China-Japan Friendship Hospital between 2016 and 2022. A total of 29 patients with pulmonary mucormycosis were collected. There were 19 males and 10 females with a median age of 49 (47, 67) years. Mann-Whitney U test, χ² test, Kaplan-Meier curve and log-rank test were used to compare the differences between groups. Results: The most common underlying disease was diabetes (19, 65.5%). The most frequent imaging findings were consolidation (25, 86.2%) and nodule or mass (21, 72.4%). Bronchial stenosis (16, 55.2%), obstruction by fungal plugs (18, 62.1%), pseudomembranous necrotizing bronchitis (19, 65.5%) were common. Treatment strategies were developed by the multi-disciplinary team (MDT). Among 16 patients who did not undergo surgery, 10 had bilateral multifocal lesions and 6 had unifocal lesions. All patients received antifungal therapies, and surgeries were performed in 13 (44.8%) patients. Patients who underwent surgery had numerically lower in-hospital mortality (15.4% vs. 31.3%, P=0.410). Involvement of unilateral multiple lesions was more common in patients who underwent surgeries (6/13 vs. 1/16, P=0.019). Patients who underwent surgery were more likely to have lobar and segmental bronchial involvement (13/13 vs. 9/16, P=0.007). A total of 15 patients underwent mNGS, 14 (93.3%) had positive results. Performing metagenomic next generation sequencing for diagnosis shortened the time from disease onset to diagnosis (log-rank P=0.014). Conclusion: Metagenomic next-generation sequencing aided early diagnosis. The patients who underwent surgery included unilateral multiple lesions and visualisation of endobronchial abnormalities on lobar or segmental bronchus in unilateral lung.

Evaluation of patients who re-admitted to the emergency department within 24 hours

Aim: It was conducted to investigate the demographic and clinical characteristics of patients who re-admitted to the emergency department within 24 hours and to contribute to studies on reducing the re-admission rate. Methods: The data of patients who re-admitted to the emergency department within 24 hours between November 2021 and September 2023 in a secondary level public hospital were retrospectively examined. Data regarding the patients' demographic information, admission dates and times, clinical characteristics, examinations, diagnoses, consultations, hospitalization and referral status were obtained from the hospital automation system. Results: 496270 patients admitted to the emergency department during the study period. 6991 (1.4%) of the patients were admitted to the emergency department again within 24 hours. 40.3% of these patients were between the ages of 19-35 and 52.4% were women. The most common reason for re-admission to the emergency department was upper respiratory tract diseases. It was determined that 66.7% of the patients applied to the emergency department again 13-24 hours after their first admission. In their second admission, 43 patients were hospitalized or transferred for various reasons; It was determined that 1 of these patients died 5 months after being admitted to the intensive care unit. Conclusion: Effective triage practices, directing green area patients to family physicians, making the referral chain effective, increasing health literacy, making an accurate diagnosis, allocating appropriate time to patients and explaining the treatment and expectations from treatment, ensuring that patients referred to polyclinics are evaluated as soon as possible and returned to the emergency department will significantly reduce applications.

Clinical and epidemiological characterization of infections in pediatric hemato-oncology patients with febrile neutropenia in the North of Mexico

Abstract Background Neutropenic fever is the most common complication in patients undergoing chemotherapy, where the choice of empirical antibiotic treatment should be based on the probable focus of infection, the predominant causative microorganisms, and the sensitivity of those organisms to antibiotics, which varies between each hospital and region. Over time, the spectrum of isolated microorganisms in different clinical syndromes of patients presenting during their infectious episode has changed. Our objective is to describe the prevalence of infectious etiology in pediatric patients with neutropenic fever, as well as the clinical characteristics of patients with documented infection. Methods The study design is ambispective, observational, and descriptive of a cohort type. Patients between 0 and 18 years old from the pediatric department of the “Dr. José E. González” University Hospital will be included from May 2019 to June 2023, with hematological-oncological disease during their febrile neutropenia infectious process with a complete medical record. Results A total of 326 episodes of febrile neutropenia were included, of which 15% had microbiological isolation (49 patients). The etiological classification during the events was as follows: bacteria 81%, viruses 14%, and fungi 4%. Five different infection sites were identified. Among these, bacteremia were the most frequent site of infection (10%), followed by gastrointestinal infections (2.4%), respiratory infections (1.5%), skin and soft tissue infections (1.2%), and lastly, urinary tract infections (1%). A total of 45 microorganisms were isolated from different infection sites. Among these, gram-negative bacteria (28 isolates, 62%) were more common and outnumbered gram-positive bacteria (14 isolates, 31%). Among gram-negatives, Escherichia coli (42%) was the most common isolate, followed by Pseudomonas aeruginosa (17%), and Klebsiella pneumoniae (14%). Among gram-positives, Streptococcus mitis (28%), Coagulase-negative Staphylococcus (21%), and Rothia mucilaginosa (14%) were identified. Conclusion Febrile neutropenia at the Hospital Universitario primarily affects 6-year-old males with ALL. The microbiological characterization suggests the intentional search for gram-negative bacteremia, allowing us to direct timely and targeted antibiotic therapy to influence clinical prognosis. It is worthwhile to continue the research line that allows us to identify susceptibility and resistance profiles to address these patients more effectively.

Bioelectrical impedance analysis (BIA) phase angle in stroke patients: A systematic review

Background and AimsPhase angle (PhA), a raw variable of bioelectrical impedance analysis (BIA), is an index of muscle structure and quality and might have a potential role in the evaluation of nutritional status.The aim of this systematic review was to evaluate in stroke patients: baseline PhA and its changes during hospital stay; the association of PhA with clinical features of patients, comorbidities, nutritional status or sarcopenia, and clinical outcomes. MethodsSystematic research on electronic databases (PubMed, Scopus, and Web of Science) up to June 14th, 2024 was performed according to PRISMA checklist.Using PECOS strategy, “P” (patients)=stroke patients, “E” (exposure)=lowest PhA values, “C” (comparison)=versus greatest PhA values, “O” (outcome)=nutritional and clinical outcomes, and “S” (study design)=all study types.Methodological quality was assessed using the Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies (NIH). ResultsEighteen papers met the inclusion criteria, with a low risk of bias. In stroke patients, evidence suggests that PhA was associated with malnutrition, sarcopenia and sarcopenic obesity, as well as with physical function. In addition, patients with low PhA had a longer hospital stay, higher inflammatory status and higher incidence of urinary tract infections and hospital-acquired pneumonia. ConclusionsSelected papers, although not conclusive, show that in acute and subacute stroke patients PhA was inversely associated with malnutrition and poor physical function. PhA could be a marker of health status and disease progression. PhA may be useful in a more comprehensive evaluation of nutritional status to be used for diagnosis and implementing therapy.

Multi-omic analysis identifies the molecular mechanism of hepatocellular carcinoma with cirrhosis

Hepatocellular carcinoma with cirrhosis promotes the advancement of malignancy and the development of fibrosis in normal liver tissues. Understanding the pathological mechanisms underlying the development of HCC with cirrhosis is important for developing effective therapeutic strategies. Herein, the RNA-sequencing (RNA-seq) data and corresponding clinical features of patients with HCC were extracted from The Cancer Genome Atlas (TCGA) database using the University of California Santa Cruz (UCSC) Xena platform. The enrichment degree of hallmarkers for each TCGA-LIHC cohort was quantified by ssGSEA algorithm. Weighted gene co-expression network analysis (WGCNA) revealed two gene module eigengenes (MEs) associated with cirrhosis, namely, MEbrown and MEgreen. Analysis of these modules using AUCell showed that MEbrown had higher enrichment scores in all immune cells, whereas MEgreen had higher enrichment scores in malignant cells. The CellChat package revealed that both immune and malignant cells contributed to the fibrotic activity of myofibroblasts through diverse signaling pathways. Additionally, spatial transcriptomic data showed that hepatocytes, proliferating hepatocytes, macrophages, and myofibroblasts were located in closer proximity in HCC tissues. These cells may potentially participate in the process of stimulating myofibroblast fibrotic activity, which may be related to the development of liver fibrosis. In summary, we made full use of multi-omics data to explore gene networks and cell types that may be involved in the development and progression of cirrhosis in HCC.

Multidrug-resistant bacteria in healthcare-associated infections among pediatric patients in Lima, Peru: a call for antibiotic stewardship programs

Abstract Background Healthcare-associated infections (HAIs) in children contribute to elevated morbidity and mortality rates. While the surveillance of antibiotic-resistant bacteria involved in HAIs is important, there is limited data available in Latin America. The present study aimed to evaluate the antibiotic resistance levels in bacteria isolated from hospitalized patients with HAIs in a pediatric referral center in Lima – Peru. Methods Surveillance data of HAIs from November 2021 to June 2023 among pediatric patients at Instituto Nacional de Salud del Niño San Borja was prospectively collected and reviewed. The dataset included comprehensive information on the clinical and epidemiological characteristics of patients, bacteria isolation sites and identification, as well as resistance profiles to 13 antibiotics. HAIs included were central line-associated bloodstream infections (CLABSI), catheter-associated urinary tract infections (CAUTI) and ventilator-associated pneumonia (VAP). Results We included 143 bacterial isolates from pediatric patients hospitalized with HAIs, of which 53.85% were male (n=77). The median age of the patients was 7 months (IQR: 2 -36). A total of 44.76% (n=64) had congenital diseases and 20.28% (n=29) had cancer. Most of the isolates were collected from pediatric Intensive Care Unit (n=104, 72.73%). The median time from the hospital admission to the appearance of HAIs was 17 days (IQR: 7-28). The most frequent isolates were Gram negative bacteria: Klebsiella pneumoniae (n=33), Pseudomonas aeruginosa (n=34) and Escherichia coli (n=24). Among Gram positive bacteria, Staphylococcus epidermidis (n=5) and Staphylococcus aureus (n=5) were the most frequent species. Regarding the site of isolation, the primary etiological agent in CLABSI was K. pneumoniae (n=18); in CAUTI, E. coli (n=13) and in VAP P. aeruginosa (n=9). Multidrug-resistant (MDR) isolates were identified, mainly among K. pneumoniae (62.50%), E. coli (54.55%), and P. aeruginosa (26.74%). Difficult-to-treat resistance was only present in 2.94% of P. aeruginosa isolates. Overall resistance to piperacillin-tazobactam was below 16%. Resistance to cephalosporins was higher than 40% for K. pneumoniae and E. coli isolates, with frequencies exceeding 60% for cefuroxime, ceftazidime, ceftriaxone, cefepime and cefoperazone/sulbactam. E. coli and K. pneumoniae resistance to carbapenems was below than 10%; however, P. aeruginosa resistant isolates were identified in 38.24% and 39.39% for meropenem and imipenem, respectively. Ciprofloxacin resistance was frequent among E. coli (70%) and K. pneumoniae (60.87%), whereas only 26.67% of P. aeruginosa. Amikacin resistance was detected in K. pneumoniae and P. aeruginosa only, with a frequency of 23.08% and 20%, respectively. Conclusion Alarming levels of antibiotic-resistant bacteria were found in HAIs among pediatric patients. Our results highlight the need of supporting initiatives for HAIs control, developing institutional guidelines for prevention and strengthening antibiotic stewardship in pediatric patients. Table 1: Antibiotic resistance profiles of the main microorganisms of healthcare-associated infections (November 2021 – June 2023)

Prevalence, Clinical Features and Outcomes of Patients with Acute Aortic Dissection and Concomitant Lower Extremity Malperfusion

Objective: The aim of this study was to describe the prevalence and clinical characteristics of patients presenting with lower limb malperfusion (LLM) following an aortic dissection, and the outcomes of the patients repair of the dissection as the initial operative procedure. Method: We performed a retrospective medical record review at our single center of patients who presented with an aortic dissection complicated by LLM from January 2019 to June 2023, and analyzed the incidence, clinical characteristics, prognosis and reintervention of these patients. Result: The incidence of patients with an aortic dissection complicated by LLM was 6.3% (39/617) with mortality rate of 23% (9/39). LLM cases were associated with malperfusion of other organs in 77% (30/39) of patients. All surgical patients underwent initial aortic central repair, with a mortality rate of 26% (8/30). Mortality rates were 31.8% (7/22) for type A dissections and 12.5% (1/8) for type B dissections. Immediate femoral-femoral bypass grafting was performed in 10% (3/30) of cases following aortic central repair, with the majority of patients experiencing significant improvement in LLM with aortic central repair alone. The postoperative readmission rate due to LLM was 6.7% (2/30). Conclusion: Aortic dissection with lower limb malperfusion (LLM) is associated with increased pre- and postoperative mortality, especially in Type A aortic dissections versus Type B. However, for survivors of initial central aortic repair surgery, the rates of amputation and readmission for LLM are low.

Characteristics and temporal evolution of asymptomatic diffusion-weighted imaging lesions in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

The role of asymptomatic diffusion-weighted imaging-positive (aDWI+) lesions in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients remains unclear, and their radiographic features may differ from those of symptomatic diffusion-weighted imaging-positive (sDWI+) lesions. We aimed to investigate the clinicoradiographic characteristics of aDWI+ lesions in CADASIL patients. We conducted a retrospective analysis using data from the Taiwan CADASIL Registry. aDWI+ lesions were defined as incidentally detected DWI+ lesions without corresponding acute neurological deficits. We compared the baseline clinical characteristics of patients with and without aDWI+ lesions and analyzed their radiological features and evolution in relation to sDWI+ lesions. Among 154 enrolled patients (mean age 62 ± 10 years), 17 (11%) had aDWI+ lesions. Baseline clinical characteristics were similar in the two groups, but those with aDWI+ lesions had more lacunes (median 8 vs. 2), multiple cerebral microbleeds (CMBs; 85% vs. 40%), and anterior temporal white matter hyperintensity (WMH; 47% vs. 14%). Multivariable analysis showed that aDWI+ lesions were associated with anterior temporal WMH (odds ratio 5.7, 95% confidence interval 1.5-21.0) after adjusting for multiple lacunes, multiple CMBs, and total WMH score. Compared to sDWI+ lesions, aDWI+ lesions were more often small infarcts (<1 cm; 89% vs. 23%) and less likely to involve the corticospinal tract (11% vs. 96%). Among the 11 aDWI+ lesions with follow-up magnetic resonance imaging, seven became microinfarcts, three became lacunes, and one disappeared. aDWI+ lesions in CADASIL are not uncommon and are associated with higher burdens of small vessel disease and anterior temporal WMH. Further research is needed to assess their long-term impact on CADASIL.

Comprehensive analysis of strabismus reoperations: clinical insights and progression factors

BackgroundTo compare and analyze clinical characteristics of patients undergoing two surgeries and multiple surgeries and explore relevant factors to lay the foundation for clinical prediction.MethodsA retrospective analysis was conducted on clinical data from all patients who underwent twice and multiple strabismus surgeries at Tianjin Eye Hospital between October 2012 and September 2021. Patients were divided into Group A (two surgeries) and Group B (more than two surgeries) based on the cumulative number of surgeries performed. Clinical details at the first recurrence, including sex, age, native place, overall medical history, onset time, visual acuity, affected muscle(s), etc., were documented. Non-parametric tests and chi-square tests were used to analyze clinical characteristics in each group. Binary and ordered logistic regression analysis assessed parameters associated with multiple reoperations. A linear mixed-term model observed factors impacting affected muscle(s) during surgery. Researchers examined clinical traits related to secondary strabismus variables.ResultsAmong the 910 included patients, 840 required two surgeries (Group A) and 70 underwent more than two surgeries (Group B). Significant differences were found in age, onset time, interval time, and secondary factors. Regression analysis highlighted the significant impact of interval time on the reoperation rate, effectively predicting outcomes in patients with concomitant strabismus. Other ophthalmoplegia and secondary factors significantly influenced reoperation rates in patients with non-concomitant strabismus. Interval time, esotropia, and exotropia were linked to concomitant secondary strabismus patients, while the number of surgeries, DVD, esotropia, exotropia, and esotropia V-pattern were associated with non-concomitant secondary strabismus patients. In a longitudinal study, patients with multiple surgeries showed a correlation between the vertical deviation angle magnitude and the number of involved extraocular muscles. Regression analysis revealed that in patients with concomitant strabismus, interval time, exotropia, and esotropia influenced the total number of muscles during surgery. For patients with non-concomitant strabismus, interval time, secondary factors, and SOP impacted the total number of muscles during surgery.ConclusionsInterval time in patients with concomitant strabismus, as well as secondary and other ophthalmoplegia in non-concomitant strabismus, are the main factors for multiple reoperations.

Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation.

Defects of the GNAS gene have been mainly associated with pseudohypoparathyroidism Ia. To date, pathogenic missense, frameshift, non-sense and splicing variants have been described in all the 13 exons of the GNAS gene. Of them, a specific mutation, namely the 4 bp deletion c.565_568delGACT, is currently considered a mutation hotspot. Recent articles performed genotype-phenotype correlations in patients with GNAS-related pseudohypoparathyroidism Ia (PHP1a) but a specific focus on this hotspot is still lacking. We reported two cases, from our department, of PHP1a associated with c.565_568delGACT deletion and performed a literature review of all the previously reported cases of the 4 bp deletion hotspot. We found a higher prevalence of brachydactyly, round face, intellectual disability and subcutaneous/heterotopic ossifications in patients with the c.565_568delGACT as compared to the other variants in the GNAS gene. The present study highlights the different prevalence of some clinical features in patients with the c.565_568delGACT variant in the GNAS gene, suggesting the possibility of a personalized diagnostic follow-up and surveillance for these patients.

Engagement in substance use disorder treatment after an emergency department visit among persons at high risk of opioid overdose: A prediction analysis

BackgroundCertified peer recovery specialists (CPRS) and licensed clinical social workers (LCSWs) can facilitate substance use disorder (SUD) treatment engagement for emergency department (ED) patients at risk for overdose. Predictors of treatment engagement after such behavioral services are unknown. MethodsThis secondary analysis included Rhode Island ED patients at high risk for opioid overdose participating in a randomized controlled trial comparing the effectiveness of CPRS and LCSWs services (2018–2021). SUD treatment engagement within 90 days post-discharge was identified using statewide administrative data. Potential predictors were obtained from baseline questionnaires. Classification and regression trees (CART) were used to identify predictors of treatment engagement. ResultsIn the ED, 323 and 325 participants received CPRS and LCSWs services, respectively, among whom 141 (43.7 %) and 137 (42.2 %) engaged in SUD treatment within 90 days post-discharge. For the CPRS group, predictors of treatment engagement included unhealthy alcohol use, prescription opioid or benzodiazepine use in past 6 months, and lifetime history of: unstable housing, barriers to treatment, bipolar disorder diagnosis, addiction treatment, and recovery services. In the LCSW group, predictors included health insurance, current pain, opioid overdose in past year, and lifetime history of anxiety disorder diagnosis and mental illness treatment. However, CART had low predictive accuracy (CPRS: 60.9 %, LCSW: 54.8 %). ConclusionsAmong ED patients at high risk of opioid overdose receiving behavioral services, 90-day SUD treatment engagement was high. Sociobehavioral and clinical patient characteristics did not accurately predict treatment engagement. Behavioral services should be offered to all ED patients at high risk of opioid overdose.

Polysomnographic and clinical characteristics of sleep apnea headache patients.

Sleep apnea headache can be defined as a persistent, widespread, throbbing headache that occurs recurrently, is not accompanied by any additional symptoms after waking up, and usually resolves within four hours. Diagnosis of the condition requires confirmation through polysomnography with an apnea-hypopnea index of at least 5, indicating the presence of obstructive sleep apnea syndrome (OSAS). While sleep apnea headaches are common in 10-15% of individuals with OSAS, morning headaches are experienced by 5% of this population. The aim of this study is to examine both polysomnographic and clinical features associated with sleep apnea headache in individuals confirmed to have OSAS by polysomnography. The study was conducted in the sleep center of University of Health Science, Erenköy Mental and Nervous Disease Training and Research Hospital. We have examined the clinical and polysomnographic data of the patients with sleep apnea headache (SAH) diagnosed according to IHS-3 criteria retrospectively and grouped the patients as mild, moderate and severe OSAS. Patients with morning headache except sleep apnea headache and under PAP titration treatment were excluded. The differences between the sleep macro structures of patients with (WSAH) and without sleep apnea headache (WOSAH) were examined. The WSAH group consisted of 384 participants and the control group (WOSAH) consisted of 294 participants The mean age was 46.29 ± 12.18 and 45.08 ± 12.62 years, respectively. Patients in the WSAH group had significantly higher scores on the Epworth Sleepiness Scale (ESS) (p = 0.004) and higher periodic limb movement index (PLMI) (p = 0.014) compared to the WOSAH group. WSAH patients exhibited shorter wake times after sleep onset (WASO) and lower scores on the sleep quality index, in contrast to WOSAH patients. Additionally, within the WSAH group, there was a negative correlation between age and several sleep parameters, including total sleep parameters. A positive correlation was observed between sleep duration (p = 0.009), waking up after sleep (p = 0.043), sleep efficiency (p = 0.001) and apnea-hypopnea index (AHI) (p = 0.018). Additionally, ESS scores were positively correlated with AHI and total awake time (p = 0.000 and p = 0.008, respectively), while negatively correlated with stage N3 sleep percentage and mean minimum oxygen level (p = 0.001 and p = 0.020, respectively) in the WSAH group. The causes and possible mechanisms of sleep apnea headache are not fully clarified and the underlying processes are not fully understood. Sleep apnea headaches appear to be related to disturbances in nocturnal sleep. Dysregulation in regions that modulate sleep and nociception may be one possible mechanism.

Influence of COVID-19 on the clinical characteristics of patients with uterine cervical cancer in Japan: A single-center retrospective study.

This study investigated the impact of coronavirus disease 2019 (COVID-19) on the clinical characteristics and interregional movement of patients with uterine cervical cancer. This study included 1189 patients who underwent treatment for cervical cancer, including cervical intraepithelial neoplasm and adenocarcinoma in situ, at our hospital in Tokyo, Japan, in 2017-2018 and in 2021, before and after the pandemic, respectively. The patients' clinical information was compared during both periods. The clinical stage was unified using the International Federation of Gynecology and Obstetrics (FIGO) 2008 staging. The number of patients treated for cervical cancer was 355, 420, and 414 in 2017, 2018, and 2021, respectively. The percentage of invasive carcinomas significantly increased from 158 (44.5%) and 196 (46.7%) to 219 (52.9%) (p = 0.049). In all periods, no significant differences were observed in median age, histological type, and treatment. The proportions of FIGO Stage IA1 were significantly elevated from 3.9% and 3.8% to 11.4% (p < 0.001). The percentage of patients from prefectures other than Tokyo significantly increased from 34.9% to 40.8% (p = 0.049). Furthermore, the proportion of patients with invasive carcinoma in private clinics increased from 28.0% to 37.9% (p = 0.014). The number of patients with invasive carcinoma and the percentage of patients with invasive carcinoma referred from private clinics increased, indicating that the COVID-19 pandemic influenced patients to delay consultations. Furthermore, the surge in patients from other prefectures indicates that medical resources were more limited in rural areas, another impact of COVID-19.

Altered functional connectivity within the primary visual networks and neurotransmitter activity in male smokers: A group ICA study

Smoking puts patients at high risk for cognitive and psychiatric disorders. The aim of this study was to explore the effects of nicotine use on primary visual network (PVN) and its association with neurotransmitters. A total of 59 tobacco use disorder (TUD) patients and 51 healthy controls (HC) participated in this study and underwent resting state functional magnetic resonance imaging scans. Functional connectivity (FC) within the network was explored using independent component analysis. In addition, the spatial correlations of PVN changes with neurotransmitters and their correlations with clinical characteristics of patients were evaluated using the JuSpace toolbox and SPSS. We found reduced FC within the PVN in patients with TUD compared with HC. In terms of relevant analysis, there is a spatial correlation between FC changes in the patient's PVN and a higher distribution of dopamine receptor and gamma-aminobutyric acid receptor. This study revealed changes in the FC and neurotransmitters of the PVN in patients with TUD, expanding the potential neural mechanisms underlying sensory perception and psychiatric disorders.

Pharmacogenetics testing for poor response to antidepressants: a transnosographic case series.

Pharmacogenetics (PGx) holds promise for optimizing psychotropic medication use, with CYP2D6 and CYP2C19 identified as key genes in antidepressant treatment. However, few studies have explored the genetic variants of these genes in real-world settings for patients experiencing ineffectiveness or adverse drug reactions (ADRs) to antidepressants. This case series includes 40 patients who underwent PGx testing due to antidepressant ineffectiveness or ADRs between June 2020 and April 2022. We describe the patients' demographic, clinical, and genetic characteristics and assess the value of PGx testing based on feedback from their psychiatrists. The most common diagnoses were major depressive disorder (60.0%) and post-traumatic stress disorder (30.0%). Ineffectiveness was reported in 65.0% of patients, ADRs in 2.5%, and both in 32.5%. The antidepressants involved included SSRIs (45.0%), SNRIs (27.5%), atypical antidepressants (20.0%), and tricyclics (17.5%). Only 17.5% of patients had normal CYP2D6 and CYP2C19 metabolic activity. Actionable genetic variants were identified in 22.0% of CYP2D6/CYP2C19-antidepressant-response pairs. PGx recommendations were followed in 92.7% of cases, with significant improvement in ADRs reported in 71.4% of patients and efficacy improvement in 79.5%. Our findings suggest that PGx testing can guide prescribing decisions for patients with antidepressant ineffectiveness or ADRs. The relatively high prevalence of genetic variants affecting pharmacokinetics supports the broader adoption of PGx testing in psychiatric practice.

Juvenile idiopathic arthritis management: insights into the utilization of intra-articular corticosteroid injections

ABSTRACT Background Juvenile idiopathic arthritis (JIA) is a common chronic rheumatic disease in children, requiring careful management to reduce both short- and long-term morbidity. In this study, our objective was to assess the clinical features of patients diagnosed with JIA who received intra-articular corticosteroid injections (IACI). Methods In this retrospective study, we evaluated the clinical and laboratory characteristics of 225 JIA patients monitored from January 2012 to October 2023 at a tertiary care center. We focused on patients who underwent intra-articular corticosteroid injections (IACI) as part of their treatment. Triamcinolone hexacetonide (TH) was used due to its demonstrated safety and efficacy. Results Our analysis revealed that IACI, particularly utilizing TH, was a widely employed and effective adjunct therapy, contributing to rapid symptom relief and local disease control. Patients receiving IACI exhibited earlier symptom onset, younger age at diagnosis, longer follow-up durations, and higher cumulative treatment burden (p < 0.001, p < 0.001, p < 0.01, p < 0.001 respectively). Despite inconclusive acute-phase reactants, a higher frequency of ANA positivity and elevated initial lymphocyte counts were associated with increased IACI use (p < 0.001, p < 0.001 respectively). Importantly, on a joint basis, a high percentage of arthritis remission following IACI underscores its efficacy and favorable safety profile. Conclusions Notably, the high percentage of arthritis remission achieved with intra-articular corticosteroid injections (IACI) on a joint-specific basis highlights its efficacy and favorable safety profile. A lymphocyte count exceeding 5000/mm3 at the time of diagnosis may serve as an early indicator for considering intra-articular steroid administration. These findings emphasize the need for nuanced and individualized treatment strategies in JIA management to optimize outcomes for affected children.

Distribution of ACE gene I/D genotypes and clinical characteristics of patients with hypertension and COVID-19 in Indonesia

Distribution of ACE gene I/D genotypes and clinical characteristics of patients with hypertension and COVID-19 in Indonesia

Prognostic Significance of Methyl-CpG Binding Domain4 Polymorphism rs140693 and Clinical Characteristics in Chinese Lung Cancer Patients

Prognostic Significance of Methyl-CpG Binding Domain4 Polymorphism rs140693 and Clinical Characteristics in Chinese Lung Cancer Patients

Modifiable and non-modifiable risk factors of early-onset colorectal cancer: National Health Interview Survey analysis

Background and aimsAlthough the incidence of colorectal cancer (CRC) diagnosed in individuals younger than 50 years, early-onset CRC (EO-CRC), is rapidly increasing, the risk factors for EO-CRC are still being identified. This study aimed to confirm the modifiable and non-modifiable characteristics identified as risk factors for EO-CRC. MethodsThis cross-sectional study used 2004–2018 National Health Interview Survey (NHIS) data, which provides comprehensive health information gathered from national annual household interview surveys. Demographic, clinical, and behavioral characteristics of EO-CRC patients were compared with those without. In addition, their non-age-related characteristics (gender, race/ethnicity, region, body mass index [BMI], alcohol consumption, and smoking status) were compared with individuals with average-onset CRC (AO-CRC). For both comparisons, multivariable logistic regression analyses were performed. ResultsWe identified 156 patients with EO-CRC, 204,846 with non-CRC, and 1972 with AO-CRC. Comparison between the EO-CRC and the non-CRC groups showed that higher odds of having EO-CRC was associated with older age (Odds Ratio [OR]=1.11, 95 % CI=1.08–1.14, p<0.001), living in the Midwest (vs. South) (OR=1.64, 95 % CI=1.06–2.55, p=0.03), and history of alcohol consumption (vs. lifetime abstainer) (OR=2.09, 95 % CI=1.01–4.36, p=0.049). Lower odds of having EO-CRC were associated with being Hispanic (OR=0.43, 95 % CI=0.22–0.84, p=0.01) or Asian (OR=0.38, 95 % CI=0.16–0.92, p=0.03) (vs. non-Hispanic White) and having moderate or vigorous physical activities (vs. no activity) (OR=0.58, 95 % CI=0.34–0.999, p=0.0496 and OR=0.34; 95 % CI=0.21–0.55, p<0.0001, respectively). Compared with patients with AO-CRC, patients with EO-CRC were more likely to be Hispanic (vs. non-Hispanic White) (OR=2.21, 95 % CI=1.13–4.33, p=0.02). ConclusionThis study verified several modifiable (i.e., alcohol consumption and physical activity) and non-modifiable (i.e., race/ethnicity) risk factors while also discovering a new factor (i.e., geographical region) associated with EO-CRC.

Characteristics and prognosis of patients with cardiac sarcoidosis presenting with atrioventricular block and ventricular arrhythmias

Cardiac sarcoidosis (CS) may initially present with life-threatening arrhythmias such as atrioventricular block (AVB) and ventricular arrhythmia (VA), including ventricular tachycardia and ventricular fibrillation. Diagnosing CS is challenging due to subtle or absent findings in routine tests and the low sensitivity of the definitive diagnostic tool, endomyocardial biopsy. CS can also mimic other cardiac conditions such as dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy, and it may occur without any systemic involvement. Consequently, delays in presentation, accurate diagnosis, and initiation of appropriate treatment are frequent. Greater awareness of the condition could improve outcomes for patients with CS. Non-invasive advanced imaging techniques, such as 18F-fluorodeoxyglucose positron emission tomography and cardiac magnetic resonance imaging are essential for diagnosis, although they may not be accessible in all clinical settings. Management of arrhythmias in CS involves conventional therapies in the utilization of antiarrhythmics and non-pharmacological therapy (e.g., implantable devices), but with notable divergences in the use of immunosuppression and a preference for implantable cardioverter defibrillators over permanent pacemakers. This narrative review aimed to outline the clinical features of patients with CS presenting with AVB or VA and examine diagnostic investigations, imaging techniques, treatment approaches, and prognosis based on current research and international guidelines.