Medical Chart Review Research Articles

Abstract 4141488: Initial Real-World Experience with a Novel Wearable Cardioverter Defibrillator

Background: The wearable cardioverter defibrillator (WCD) can reduce sudden cardiac death; effectiveness depends on adherence. A novel WCD designed for sex specific comfort and noise immunity has reported improved compliance. Hypothesis: Patient compliance with the WCD maximizes device utility in treating significant arrhythmia. Aims: Report WCD patient compliance and efficacy in a cohort with balanced gender representation. Evaluate WCD performance in minimizing noise artifact leading to false alarms and unnecessary shocks. Methods: Retrospective analysis of patients prescribed the ASSURE WCD at the Cleveland Clinic. Clinical data was collected via medical chart review. All device-detected arrhythmia episodes were manually adjudicated by a Board-certified Electrophysiologist. Detected rhythms that persist, result in an audible alarm notifying that a shock is imminent. A conscious patient can manually divert a shock. An alarm was deemed true and shock appropriate if the underlying rhythm was sustained VT/VF. Results: Fifty-five patients were fitted with a WCD. Median daily use 22 hr/day (IQR 13,24) and median duration of use 43 days (IQR 8,79). Female representation was 49%, significantly greater than prior reports of WCD experience. 4 episodes of sustained VT/VF were detected in 4 patients. A single shock terminated VT/VF in 2, while spontaneous termination of VT/VF occurred in the other 2 patients who diverted shocks. One shock for hemodynamically unstable atrial fibrillation with heart rate >200bpm was delivered and deemed necessary. No deaths occurred while wearing a WCD. Of 163 recorded episodes, 62 (38%) persisted and triggered an alarm (Figure 1). 10 patients experienced a median of 1 (IQR 1,9.5) alarm during the WCD wear period. The majority (97%) of alarms were associated with a significant tachyarrhythmia, with only 3% due to noise artifact. No inappropriate, unnecessary shocks were delivered. Discussion: Patient compliance with the ASSURE WCD was high in this real-world observational study with equal representation of both sexes. The WCD effectively terminated sustained hemodynamically significant tachyarrhythmias, emitted few false alarms due to noise and resulted in no unnecessary and inappropriate shocks.

Abstract 4117772: Age-Related Differences in Aortic Valve Calcium Progression and the Risk for Aortic Stenosis: Multi-Ethnic Study of Atherosclerosis

Background: Aortic valve calcium (AVC) is strongly associated with an increased risk for severe aortic stenosis (AS). The prevalence of AVC increases with age affecting 40-50% of individuals ≥80 years. The impact of age on the progression of AVC and its association with incident AS remains unknown. Methods: Our study included 6,810 participants (52.9% women) free of cardiovascular disease between ages 45 and 84 from the Multi-Ethnic Study of Atherosclerosis. AVC was measured using non-contrast cardiac CT at Visit 1. Progression was calculated as the change in AVC divided by years between CT scans with up to 10 years between scans. Long term incident AS was adjudicated using medical chart review and echocardiogram data from Visit 6 with a median follow up of 16 years. Multivariable adjusted 1) linear regression was used to examine AVC progression and 2) multivariable adjusted Cox proportional hazards ratios (HR) were used to examine the association of AVC with incident AS. Results: The prevalence of AVC >0 was 4.9% among participants <65 and 23.2% for those ≥65 years old. Among participants with AVC >0, the median AVC was 34.1 (IQR 13-1,113) for participants <65 versus 69.0 (IQR 23-2,453) for participants ≥65. Participants <65 years and ≥65 years had no significant difference in median annualized AVC progression within the baseline AVC categories of 1-99 (10 versus 12 AU/year, p=0.303) and AVC >100 (50 versus 47 AU/year, p=0.846) ( Figure 1 ). Overall, linear regression models showed older age was associated with greater AVC progression (p=0.001), but after additional adjustment for baseline AVC, the association became non-significant (p=0.134). AVC >0 was associated with significantly increased risk of incident AS for both younger (HR 13.37; 95% CI 5.67-31.52) and older participants (HR 10.59, 95% CI 6.77-16.56). Conclusion: We observed a similar progression of AVC for younger versus older persons after adjusting for baseline AVC burden. Additionally, AVC >0 independently conferred at least a ten-fold higher risk for severe AS among both younger and older participants. These findings demonstrate that the AVC progression is primarily associated with baseline AVC burden and that AVC is a strong marker of risk for severe AS for both younger and older persons.

EPID-33. EPITHELOID SARCOMA IN A LONG-TERM SURVIVOR OF AN ATYPICAL TERATOID / RHABDOID TUMOR WITH RHABDOID TUMOR PREDISPOSITION SYNDROME

Abstract INTRODUCTION Rhabdoid tumor predisposition syndrome (RTPS) predisposes to a high risk of developing Rhabdoid tumors in Brain, kidney; and is defined by a germline mutation in SMARCB1 (rarely SMARCA4) gene. The most frequent pediatric tumor associated with RTPS is atypical teratoid/rhabdoid tumor (ATRT), commonly diagnosed in children < 3 years of age. Epitheloid Sarcoma (ES) is a rare soft tissue sarcoma, arising in any age group and histologically defined by loss of SMARCB1 in tumor cells. METHODS We describe a long- term survivor of ATRT with RTPS presenting 12 years later with ES. Data was collected from medical chart review. RESULTS Our patient was diagnosed with ATRT and RTPS (SMARCB1) at 6 months of age and treated with chemotherapy as per ACNS0333 at diagnosis; by chemotherapy / focal radiation at first relapse and with alisertib on second relapse. At 10yrs of age she presented with multiple firm, skin-colored dermal nodules in both her hands (palms and fingers). She was diagnosed to have palmar warts and treated with topical cantharidin with a waxing and waning course. Subsequently the hand lesions were diagnosed as granuloma annulare and followed up with no therapy. At 12 years of age, lesion in tip of the right thumb increased in size and a punch biopsy was done which revealed ES with IHC showing loss of SMARCB1 in tumor cells. Staging CT of the chest showed multiple bilateral (b/l) small (<1cm) axillary lymph nodes with a negative PET scan. Bilateral axillary lymph node biopsies were negative for ES. She underwent excision of all the hand lesions with negative margins with no further therapy. CONCLUSION Based on our case and single case report in literature, we hypothesize that ES is likely a primary malignancy of RTPS and should be included in the spectrum of malignancies of RTPS.

Uveitis as a Predictor for Myocardial Infarction in Patients with Behçet's Disease, Multi Centric Cohort Study from Aseer Region, Saudi Arabia

Introduction: Behçet's disease (BD) is a chronic, multisystem inflammatory disorder characterized by a diverse array of clinical manifestations, including recurrent oral and genital ulcers, ocular inflammation, skin lesions, and joint problems. Its presentation varies, requiring tailored diagnosis and management. Methods: Retrospective cohort study, though review of medical charts and data for patients who meet the diagnostic criteria for BD actively receiving care in rheumatology clinics. The primary objective was to investigate the correlation between uveitis and Myocardial infarction in this population. Results: This study included a total of 111 patients. Approximately 33% of the patients exhibited positive CRP levels. Approximately 10% (11 patients) of the subjects were diagnosed with uveitis. Notably, the majority of individuals with uveitis were males. Three patients with uveitis had arthritis, none of whom presented with gastrointestinal tract (GIT) Complaints. Remarkably, none of the patients diagnosed with uveitis had a documented history of myocardial infarction (MI). Conclusion: In our cohort, those with a history of MI did not have a documented history of uveitis. Larger, prospective studies are needed to evaluate the associations between MI and uveitis in a BD population.

Emapalumab Treatment in Patients With Rheumatologic Disease-Associated Hemophagocytic Lymphohistiocytosis in the United States: A Retrospective Medical Chart Review Study.

Rheumatologic disease-associated hemophagocytic lymphohistiocytosis (HLH), a rare, life-threatening, systemic hyperinflammatory syndrome, occurs as a complication of underlying rheumatologic disease. Real-world evidence is lacking on emapalumab, a fully human monoclonal antibody that neutralizes the proinflammatory cytokine interferon-γ, approved for treating patients with primary HLH. REAL-HLH, a retrospective medical chart review study conducted across 33 US hospitals, assessed real-world treatment patterns and outcomes in patients with HLH treated with one or more dose of emapalumab between November 20, 2018, and October 31, 2021. Data are presented for the subset of patients with rheumatologic disease-associated HLH. Fifteen of 105 patients (14.3%) had rheumatologic disease-associated HLH. Of these, nine (60.0%) had systemic juvenile idiopathic arthritis, and one (6.7%) had adult-onset Still disease. Median (range) age at HLH diagnosis was 5 (0.9-39) years. Most patients (9 of 15; 60.0%) initiated emapalumab in an intensive care unit. Emapalumab was most frequently initiated for treating refractory or recurrent (10 of 15; 66.7%) disease. Most patients received HLH-related therapies before (10 of 15; 66.7%) and concurrently with (15 of 15; 100.0%) emapalumab. Emapalumab-containing regimens stabilized or achieved physician-determined normalization of most laboratory parameters, including absolute neutrophil count and absolute lymphocyte count (13 of 14; 92.9%), chemokine ligand 9 (9 of 11; 81.8%), and platelets and alanine transaminase (11 of 14; 78.6%), and reduced glucocorticoid dose by 80%. Overall survival and 12-month survival probability from emapalumab initiation were 86.7%. Emapalumab-containing regimens stabilized or normalized most key laboratory parameters, reduced glucocorticoid dose, and were associated with low disease-related mortality, thereby demonstrating potential benefits in patients with rheumatologic disease-associated HLH.

Nomogram Analysis for Predicting Response to Androgen-Receptor-Axis-Targeted Therapies in Patients With Metastatic Castration-Resistant Prostate Cancer.

This study aimed to identify the clinical predictors for the response of patients with mCRPC to ARATs. We retrospectively collected data on consecutive patients who were diagnosed with mCRPC and underwent ARAT treatment during this stage of the disease. Clinical parameters were obtained through medical chart reviews. ARAT failure was defined as a continuous increase in the serum prostate-specific antigen (PSA) level above nadir to > 2 ng/mL, accompanied by radiographic progression. ARAT failure-free survival and overall survival were assessed through Kaplan-Meier survival analysis and Cox regression survival analysis. Nomogram analysis based on significant predictors of ARAT failure-free survival was performed. In total, 319 patients with mCRPC who underwent ARAT were included. Multivariate analysis revealed that age, International Society of Urological Pathology (ISUP) grading, and chemotherapy-naïve status were significant predictors of ARAT failure-free survival. For overall survival, age, ISUP grading, and nadir PSA level during androgen deprivation therapy (ADT) were significant predictors. Through nomogram analysis based on age, ISUP grading, and chemotherapy-naïve status, the likelihood of ARAT duration being more or less than 1 year could be predicted. For mCRPC patients, being older, having ISUP Grade 5 cancer, and having a history of chemotherapy were associated with a shorter duration of response to next-line ARATs. Therefore, other therapeutic agents should be prioritized for such patients. Notably, among the included patients, those who were older, had a higher ISUP grade and a higher nadir PSA level during ADT exhibited worse overall survival.

Outcomes of naviculocuneiform arthrodesis with and without adjunct arthrodesis

Naviculocuneiform (NC) arthrodesis is considered a challenging procedure compared to arthrodesis of other medial column joints and/or hindfoot fusions. The objectives of this study were to 1) report the incidence of nonunion and complications after NC arthrodesis with or without adjunct joint arthrodesis, and 2) report incidences in which a fixation method was used and report how many cuneiform joints were fused. A retrospective review of medical charts and radiographs were performed on patients from 1/2013 through 11/2023 at a single institution in the Midwest region. 137 cases included and 90 (66%) adjunct joint arthrodesis incidents. The overall nonunion rate was 25% (34/137 cases) and overall revision rate was 15% (21/137 cases). The nonunion rate with adjunct joint arthrodesis was 26% (23/90 cases) and without was 23% (11/47 cases). The screws-alone fixation had the lowest nonunion rate of 20% (4/20 cases). The overall complication rate was 47% (65/137 cases), and the most common cause was hardware issues (31%, 43/137 cases). Fixating all three joints regardless of fixation constructs resulted in 18% (5/28 cases) nonunion. Crossed screws with medial plate fixation when fixated medial and middle cuneiform joints had the highest nonunion rates (24%, 10/42 cases) while fixation with screws and staples had the lowest nonunion rates (11%, 1/9 cases). In conclusion, the choice of fixation technique and number of cuneiform joints fused could affect the success of NC arthrodesis. Implementing proper cuneiform joints fusion and recognizing the limitations of fixation techniques potentially reduces the risk of nonunion and complications.

Changes in the diagnostic landscape of transthyretin amyloid cardiomyopathy (ATTR-CM): a comparison of tests ordered and test Intervals in 2020 Q4 and 2023 Q4

Abstract Background Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is a genetic disease caused when misfolded transthyretin protein is deposited in the myocardium. Amyloidosis driven stiffness in heart muscles results in heart failure symptoms. ATTR-CM is underdiagnosed, requiring specialized tests to identify the condition. Purpose This paper examines and compares diagnostic tests and the time intervals between rounds of testing conducted to identify ATTR-CM in 2020 Q4 and 2023 Q4 in France (FR), Germany (DE), Italy (IT), Spain (ES) and the United Kingdom (UK). Methods A multi-centre online medical chart review was performed between November and December 2020, with 210 (FR: 46, DE: 40, IT: 43, ES: 42, UK: 39) cardiologists/internists providing data on 320 (FR: 71, DE: 63, IT: 64, ES: 63, UK: 59) patients diagnosed with ATTR-CM; and between October and November 2023, with 225 (FR: 45, DE: 48, IT: 48, ES: 45, UK: 39) cardiologists/Internists providing data on 780 (FR: 151, DE: 163, IT: 172, ES: 175, UK: 119) patients. Participants were screened for ATTR-CM patient management. We analysed the diagnostic tests ordered and tracked the intervals between batteries of tests to understand how the timing of diagnosis has changed across the EU4+UK. Results The average number of ATTR-CM diagnostic tests received by reported patients rose from 5.9 in 2020 to 7.4 in 2023, with ECHO with strain imaging (87%), Genetic tests (78%), Cardiac MRI (74%), Laboratory tests (67%), and Scintigraphy tests (65%) as the top 5 tests in Q4 2023. There was a notable increase in the use of ECHO with strain imaging, Laboratory tests, and Scintigraphy tests recorded in the Spanish patient cohort (p<0.01). Reported patients in Italy, Spain & UK received an increased average number of tests (p<0.05) [Table 1]. The recorded interval between the 1st and 2nd test batteries remained consistent between Q4 2020 and Q4 2023 (4.8-4.9 wks.), but the interval between the 2nd to 3rd rounds increased from 4.3 to 5.0 weeks. Timings between batteries increased in the France, Germany, Italy and UK data. Reported patients in Germany continue to experience the shortest intervals between batteries of tests (4.1 wks. between 1st and 2nd; 4.4 wks. between 2nd and 3rd batteries). Between Q4 2020 and Q4 2023, reported patients in Spain had an increase in the average number of tests received from 5.2 to 7.2, and were the only group with decreased time intervals (7.3 to 4.5 wks. between 1st and 2nd; 5.8 to 5.1 wks. between 2nd and 3rd batteries) Conclusion Results indicate that the use of certain diagnostic tests as well as the number of tests used to diagnose ATTR-CM has increased, however, intervals between testing batteries have also increased. This suggests that the increase in the number of tests used to diagnose ATTR-CM is possibly negating the necessity for more frequent testing. Further research in needed to confirm this and assess its impact on early detection of ATTR-CM.Table 1:Diagnostic Procedures by RegionTable 2:Testing battery intervals

Endoscopic Sinus Surgery for Chronic Rhino Sinusitis with Nasal Polyps: Predictive Factors of Recurrence.

Background: Chronic rhinosinusitis with nasal polyps (CRSwNP) is an inflammatory condition which may have a significant impact on quality of life. Endoscopic sinus surgery (ESS) is usually indicated for patients' refractory to maximal medical treatment and presents high recurrence and revision surgery rates. Objective: The aims of this study are to evaluate ESS outcome in CRSwNP management and to assess independent predictive factors for recurrence. Methods: Retrospective medical chart review of patients who underwent ESS for recalcitrant CRSwNP, from January 2002 to December 2021, with a minimum follow-up time of 12 months. Results: This study enrolled 280 patients; 52.5% of whom were males, with a mean age of 41.44 ± 14.25 years. Asthma was the most common comorbidity (36.4%, n = 102) and aspirin exacerbated respiratory disease was present in 16.8% (n = 47) of the study population. We found a recurrence rate of 20.7% (n = 58) and 8.9% (n = 25) of patients required revision surgery. Multivariate analysis identified as independent variables of recurrence (95% CI): no compliance with medication after surgery using topical steroids (OR = 16.056; CI 7.887-32.684; P < .001). Conclusions: ESS proved to be an effective treatment in CRSwNP but with a considerable rate of recurrence. These results indicated an important correlation of postoperative topical steroids compliance with disease recurrence.

Determinants of uncontrolled blood pressure among adult hypertensive patients on follow-up at Negelle and Adola General Hospital, Guji Zone, Southern Ethiopia: facility-based case control study

BackgroundUncontrolled blood pressure is a significant public health problem associated with a high rate of mortality and morbidity worldwide. In Ethiopia, 48% of hypertensive patients have Uncontrolled blood pressure. Therefore, this study aimed to identify the determinants of uncontrolled blood pressure among adult hypertensive patients on follow-up at the Negele and Adola General Hospitals in the Guji Zone, Oromia, Ethiopia.MethodsA facility-based, unmatched case–control study was conducted in Negelle and Adola General Hospitals, Guji Zone, from January-01–30, 2023, on 384 samples. Study participants were selected consecutively as they came for treatment until the required sample size was obtained. The data were collected using an interview-administered structured questionnaire and medical chart review. The data were entered into Epi-data version 3.1 and exported to SPSS version 25 for analysis. Binary logistic regression analysis was used to model the association between the dependent and independent variables. The candidate variables with p < 0.25 in the bivariate analysis were entered into the multivariable logistic regression. An Adjusted Odds ratio (AOR) and 95% CI were used to measure the strength of the association. Finally, at p < 0.05, statistical significance was declared.ResultsA sample of 384 respondents (128 cases and 256 controls) were included, for a response rate of 100%. No adherence to medication (AOR = 2.01, 95% CI = 1.16–3.44), no adherence to smoking abstinence (AOR = 1.84, 95% CI = 1.05–3.22), no adherence to weight management (AOR = 2.02, 95% CI = 1.04–3.92), poor hypertension knowledge (AOR = 2.18, 95% CI = 1.26–3.76), use of traditional medicine (AOR = 9.13, 95% CI = 5.31–15.69), and overweight (AOR = 3.35, 95% CI = 1.79–6.26) were significantly associated with uncontrolled blood pressure.ConclusionThis study revealed that no adherence to medication, smoking, weight management, poor hypertension knowledge, traditional medicine use, and being overweight were determinants of uncontrolled blood pressure. Since these are modifiable and preventable factors, there is a need to implement interventions that will enhance self-care practices in this population to improve treatment outcomes.

Exploring factors associated with domestic violence among pregnant women in Pakistan and its implications for maternal and perinatal health

ABSTRACT Domestic violence during pregnancy is a critical health issue due to its significant implications for both maternal and fetal well-being. Women in South Asian countries are particularly at a higher risk of experiencing domestic violence. The objective of this study was to identify factors associated with domestic violence among pregnant women attending tertiary care antenatal services in Pakistan. The secondary aim was to evaluate the impact of domestic violence on maternal and perinatal outcomes. The study participants were 681 pregnant women registered for antenatal care and delivery at a tertiary care hospital in Islamabad, Pakistan. Data were collected through in-person surveys and medical chart reviews. Associations between domestic violence and study variables were examined by logistic regression analysis. Among the study participants, 31.4%experienced some form of domestic violence during pregnancy, with psychological abuse (16.4%) being the most prevalent followed by sexual abuse (9.5%) and physical violence (1.8%). Women whose husbands were unemployed were three times more likely to experience domestic violence (aOR; 3.3, 95%CI: 1.6, 7.0). Similarly, husband’s substance abuse was significantly associated with domestic violence during pregnancy (aOR: 120.8, 95%CI: 57.9, 252.2). Domestic violence was a significant predictor of adverse maternal outcomes, including anemia, preterm labor, and recurrent abdominal pain. Similarly, domestic violence was a significant predictor of NICU admission (aOR: 20.6, 95%CI: 12.6, 33.8) and low birthweight (aOR: 24.4, 95%CI: 10.2, 58.4). The study findings emphasize the urgent need for comprehensive interventions targeting domestic violence among women and preventing its cascading effects on pregnancies.

Development and Validation of a Diagnostic Algorithm for Down Syndrome Using Birth Certificate and International Classification of Diseases Codes.

We aimed to develop an algorithm that accurately identifies children with Down syndrome (DS) using administrative data. We identified a cohort of children born between 2000 and 2017, enrolled in the Tennessee Medicaid Program (TennCare), who either had DS coded on their birth certificate or had a diagnosis listed using an International Classification of Diseases (ICD) code (suspected DS), and who received care at Vanderbilt University Medical Center, a comprehensive academic medical center, in the United States. Children with suspected DS were defined as having DS if they had (a) karyotype-confirmed DS indicated on their birth certificate; (b) karyotype-pending DS indicated on their birth certificate (or just DS if test type was not specified) and at least two healthcare encounters for DS during the first 6 years of life; or (c) at least three healthcare encounters for DS, with the first and last encounter separated by at least 30 days, during the first six years of life. The positive predictive value (PPV) of the algorithm and 95% confidence interval (CI) were reported. Of the 411 children with suspected DS, 354 (86.1%) were defined as having DS by the algorithm. According to medical chart review, the algorithm correctly identified 347 children with DS (PPV = 98%, 95%CI: 96.0-99.0%). Of the 57 children the algorithm defined as not having DS, 50 (97.7%, 95%CI: 76.8-93.9%) were confirmed as not having DS by medical chart review. An algorithm that accurately identifies individuals with DS using birth certificate data and/or ICD codes provides a valuable tool to study DS using administrative data.

Real-World Use of Ruxolitinib in Patients With Myelofibrosis and Anemia or Thrombocytopenia at Diagnosis.

Ruxolitinib is approved for treatment of myelofibrosis. We evaluated ruxolitinib in patients with anemia (hemoglobin &lt;10 g/dL) or thrombocytopenia (platelet count ≤100×109/L) at diagnosis. This was a retrospective, secondary analysis of a Cardinal Health Oncology Provider Extended Network medical chart review of adults with myelofibrosis diagnosed between 2012-2016 who received first-line ruxolitinib. 176 patients received first-line ruxolitinib and were included in this analysis. At diagnosis, 120 patients had hemoglobin concentrations &lt;10 g/dL and 59 had a platelet count ≤100×109/L. Most patients (95%) with thrombocytopenia also had anemia. Median time of observation after diagnosis was 21.4 months. Among patients with anemia or thrombocytopenia, ruxolitinib dose at end of study was ≥10 mg twice daily (bid) in 88.3% and 83.1%, respectively. Ruxolitinib treatment was ongoing in 76.1% of patients overall and was rarely discontinued for anemia or thrombocytopenia (n=2 total, 1.1%). Per the treating physician, 79.7% of patients had improved symptoms and 62.7% improved spleen size. Most patients with myelofibrosis and anemia or thrombocytopenia at diagnosis tolerated and maintained a ruxolitinib dose ≥10 mg bid for nearly 2 years, resulting in clinical benefit. This real-world evidence supports observations from prospective clinical trials of ruxolitinib in myelofibrosis.

Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.

Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, typically presenting in neonates with congenital cardiac anomalies, hypocalcaemia and thymic hypoplasia. Some patients are diagnosed later in adolescence and adulthood, with less known about the clinical phenotype of these patients. To summarise key clinical features in cases of 22q11DS diagnosed during adolescence and adulthood. This is a retrospective cohort study of 22q11DS patients diagnosed after 13 years of age over 2010-2021, with a literature review of published cases highlighting other late diagnoses. The study was performed in a large multicentre tertiary health network in Melbourne, Australia. Patients diagnosed with 22q11DS after the age of 13 years were included in the study. Main outcome measures were key clinical features in cases of late diagnosis of 22q11DS. A literature search yielded 53 published case reports and one cohort study for review (62 subjects). Additionally, 10 cases of late diagnosis of 22q11DS were identified through a retrospective electronic medical chart review. Findings suggest that intellectual disability and learning difficulties, hypocalcaemia with hypoparathyroidism and facial dysmorphism remain key features in patients with a late diagnosis of 22q11DS, with hypocalcaemia being the most common presentation leading to diagnosis. Patients diagnosed in adulthood may lack classical clinical features of congenital cardiac anomalies and thymic hypoplasia. Immunological consequences of 22q11DS are also an important late-onset consideration. Atypical features may include basal ganglia calcification. Chromosome 22q11DS has diverse clinical features and a highly variable phenotype, likely contributing to underdiagnosis and later diagnoses.

Reevaluation of ADHD diagnoses in referral patients: A medical chart review in an advanced psychiatric hospital in Japan.

Our study examined the diagnostic accuracy of ADHD among referral patients, revealing that 66% had confirmed ADHD while 24% had their diagnosis changed, primarily to bipolar disorder. These findings emphasize the need for comprehensive evaluation and multidisciplinary collaboration to ensure accurate diagnosis and effective treatment.

Assessing disease control in inflammatory bowel disease: a real world cross-sectional study in the UK (PODCAST-IBD)

Objective Proportion Of suboptimal Disease Control And Strategy of Treatment in IBD (PODCAST-IBD) was an international real-world study which aimed to quantify disease control in IBD using STRIDE-II recommendations. Design/Method Cross-sectional assessment of IBD patients attending routine clinic appointments in four UK centers October 2022 to January 2023. Clinician-reported outcomes, patient-reported outcomes and retrospective data from medical chart review were used to assess IBD control against red flags aligned to STRIDE-II. Results Data were available from 198 UK patients. IBD was suboptimally controlled in 52.4% (54/103) of patients with Crohn’s disease (CD) and 45.3% (43/95) with ulcerative colitis (UC). Impaired quality of life (QOL), defined as Short inflammatory bowel disease questionnaire (SIBDQ) score <50, was the main contributor to suboptimal disease control. Suboptimal disease control has a detrimental impact on fatigue and disability with significantly lower mean Functional Assessment of Chronic Illness Therapy – Fatigue (FACIT-F) score in suboptimally controlled disease (CD: 81.5 vs 125, UC: 87.4 vs 122.8) and IBD Disk. Suboptimal disease control results in higher health care resource use (HCRU) (CD: £4,746 vs £1,924; UC: £2,428 vs £1,121) and higher rates of work productivity loss (CD: 41.7% vs 11.9%, UC: 38.0% vs 22.6%). Conclusion IBD was suboptimally controlled in around one-half of patients. Impaired QOL was the most common contributor (64%, 62/97) to suboptimal control. Suboptimal control had a considerable economic impact; HCRU more than doubled and productivity fell. Physicians could consider regular QOL assessments to prompt timely disease monitoring to enable identification of early active disease and appropriate treatment.

Integrating hypertension detection and management in HIV care in South Africa: protocol for a stepped-wedged cluster randomized effectiveness-implementation hybrid trial

BackgroundHIV clinical guidelines recommend hypertension detection and management to lower cardiovascular disease risk, but these have not been effectively implemented for people living with HIV (PWH). Addressing this implementation gap requires community-engaged implementation studies focused on addressing implementation barriers specific to the HIV care context.MethodsThis protocol describes a type 2 effectiveness-implementation hybrid study conducted in nine primary care clinics in Johannesburg. The study will evaluate the effect of implementation strategies on guideline-recommended blood pressure assessment and management in HIV clinics and the effects of assessment/management on patient blood pressure. A stepped-wedge, cluster randomized study design was used to randomize clinics to the time at which they receive the implementation strategies and patient intervention. The implementation strategies tested include identifying and preparing care champions, changing record systems, conducting ongoing training, providing audit and feedback, and changing the physical structure/equipment. The patient intervention tested includes detection of elevated blood pressure, educational materials, lifestyle modification advice, and medication where needed. Implementation outcomes include adoption, fidelity (co-primary outcome), cost, and maintenance of the blood pressure assessment protocol in participating clinics, while patient outcomes include reach, effectiveness (co-primary outcome), and long-term effects of the intervention on patient blood pressure. These will be assessed via direct observation, study records, staff logs, medical chart reviews, and patient and healthcare worker surveys. To examine effects on the implementation (intervention fidelity) and effectiveness (patient blood pressure changes) co-primary outcomes, we will use the standard Hussey and Hughes model for analysis of stepped-wedge designs which includes fixed effects for both interventions and time periods, and a random effect for sites. Finally, we will examine the costs for the implementation strategies, healthcare worker time, and patient-facing intervention materials, as well as the cost-effectiveness and cost-utility of the intervention using study records, patient surveys, and a time and motion assessment.DiscussionThis study will address knowledge gaps around implementation of cardiovascular disease preventive practices in HIV care in South Africa. In doing so, it will provide a dual opportunity to promote evidence-based care in the South African HIV care context and help refine implementation research methods to better serve HIV populations globally.Trial registrationClinicalTrials.gov: NCT05846503. Registered on May 6, 2023. https://classic.clinicaltrials.gov/ct2/show/NCT05846503.

Pediatric Clinical Influenza Disease by Type and Subtype 2015-2020: A Multicenter, Prospective Study.

Previous investigations into clinical signs and symptoms associated with influenza types and subtypes have not definitively established differences in the clinical presentation or severity of influenza disease. The study population included children 0 through 17 years old enrolled at 8 New Vaccine Surveillance Network sites between 2015 and 2020 who tested positive for influenza virus by molecular testing. Demographic and clinical data were collected for study participants via parent/guardian interview and medical chart review. Descriptive statistics were used to summarize demographic and clinical characteristics by influenza subtype. Multivariable logistic regression and Cox proportional hazard models were used to assess effects of age, sex, influenza subtype, and history of asthma on severity, including hospital admission, need for supplemental oxygen, and length of stay. Retractions, cyanosis, and need for supplemental oxygen were more frequently observed among patients with influenza A(H1N1)pdm09. Headaches and sore throat were more commonly reported among patients with influenza B. Children with influenza A(H1N1)pdm09 and children with asthma had significantly increased odds of hospital admission (adjusted odds ratio (AOR): 1.39, 95% CI: 1.14-1.69 and AOR: 2.14, 95% CI: 1.72-2.67, respectively). During admission, children with influenza A(H1N1)pdm09 had significantly increased use of supplemental oxygen compared to children with A(H3N2) (AOR: 0.60, 95% CI: 0.44-0.82) or B (AOR: 0.56, 95% CI: 0.41-0.76). Among children presenting to the emergency department and admitted to the hospital, influenza A(H1N1)pdm09 caused more severe disease compared to influenza A(H3N2) and influenza B. Asthma also contributed to severe influenza disease regardless of subtype.

Is longer axial length protective of vision-threatening diabetic retinopathy across different ages? A multicenter cohort of 736 patients

PurposeVision-threatening diabetic retinopathy (VTDR) included severe non-proliferative diabetic retinopathy (NPDR), proliferative diabetic retinopathy (PDR) and clinically significant diabetic macular edema (DME). To compare the axial length (AL) and assess its influence on VTDR across different ages.MethodsA retrospective cohort study. Medical chart review was performed in 736 consecutive patients with VTDR. The patients were divided into young (≤ 45 years) and elderly group (> 45 years) based on their age at the diagnosis of VTDR. After at least one year of standardized treatments, all eligible patients were followed up. The main outcome measures included the presence of tractional retinal detachment (TRD) involving foveal, final best-corrected visual acuity (BCVA), the development of neovascular glaucoma (NVG), and recurrent vitreous hemorrhage (VH) post-vitrectomy. ALs were compared between two age groups. The impact of AL on clinical outcomes was determined by logistic analyses after controlling for systemic parameters.ResultsThe study included 144 patients ≤ 45 years and 592 patients > 45 years. Young patients had significantly longer AL than elderly participants (23.9 mm vs 23.0 mm, p < 0.001). Over a median follow-up of 25.9 months, a larger proportion of young patients developed TRD (34.7% vs 16.2%, p < 0.001) and recurrent VH (18.6% vs 10.3%, p = 0.040) than elderly patients. In elderly group, longer AL is an independent protective factor in preventing TRD (odds ratio [OR], 0.5; 95% confidence interval [CI], 0.4–0.7; P < 0.001). However, this beneficial effect was not observed in young patients.ConclusionsYoung patients with VTDR exhibited significantly longer AL but more aggressive clinical signs with compromised prognosis. In elderly group, a longer AL independently reduced the risk of TRD, while this protective effect did not exist for young patients.

Evaluation of the relationship between thyroid cancer and the concurrent detection of thyroid nodules on the background of primary hyperparathyroidism

Introduction: Primary Hyperparathyroidism (PHPT) is commonly caused by a benign parathyroid adenoma that results in overactivity of the gland and subsequent hypercalcemia due to elevated parathyroid hormone (PTH). This endocrine pathology is associated with thyroid cancer, specifically Papillary Thyroid Cancer (PTC). However, the explanation for their synchronous presentation is unknown. Moreover, it causes diagnostic and treatment challenges that impact patient outcomes. Aims and Objectives: To critically analyze published research to address the relationship between PHPT and thyroid cancer, the role of ultrasound imaging in detecting sinister thyroid nodules in PHPT patients and the features of PHPT that predispose the risk of thyroid malignancy. Study Design: Literature Review Methodology: Electronic database searches of PubMed and CINAHL Plus through EBSCOhost were conducted using the keywords "primary hyperparathyroidism", "thyroid nodules" and "thyroid cancer". Following application of filters and removal of duplicates, 627 relevant results remained. Articles were screened for eligibility based on predetermined selection criteria. Following a review of titles and abstracts, 10 peer-reviewed articles were chosen for further analysis. The studies included were critically appraised using the EBL Critical Appraisal Checklist. Results: 10 articles were examined, 2 were prospective cohort studies and 8 were retrospective cohort studies. All studies involved exhaustive medical chart reviews of patients with PHPT, to investigate the concomitance of thyroid malignancy. Six studies established cervical ultrasound as the optimal method of recognition and preoperative localization of thyroid and parathyroid lesions. Overall, the incidence of thyroid cancer among PHPT patients ranged between 2.9% to 32.9%. Four studies established age, gender and PTH levels as risk factors. Conclusion: The existing literature is consistent with previous studies and purports that individuals with a background fo PHPT are at an increased risk of thyroid cancer. Furthermore the highest likelihood of identifying thyroid cancer is through preoperative localization of parathyroid adenomas by cervical ultrasound, in female patients over the age of 50. Key Findings: Further research is needed to understand the underlying pathogenesis and genetic mechanisms that encompass the relationship between PHPT and thyroid cancer.