Pulmonary hypertension (PH) is a hemodynamic and pathophysiologic condition associated with increased perioperative morbidity and mortality, particularly in patients undergoing cardiac or high-risk non-cardiac surgery. Inhaled pulmonary vasodilators (iPVs) offer a targeted strategy to reduce pulmonary vascular resistance (PVR) and improve right ventricular (RV) function while minimizing systemic hypotension. Traditional vasodilators such as nitroglycerin and sodium nitroprusside lack pulmonary specificity and can exacerbate systemic hypotension. Inhaled agents including nitric oxide (NO), epoprostenol (iEPO), iloprost, milrinone (iMIL) and levosimendan provide selective pulmonary vasodilation with more favorable hemodynamic profiles. This narrative review summarizes current evidence and clinical considerations for the use of iPVs in the perioperative management of PH and discusses pharmacokinetics, delivery mechanisms, adverse effects, and logistical considerations for these agents. New emerging PH therapies are included based on early clinical trial data as they have the potential to impact perioperative care in the future. Overall, iPVs represent a valuable tool in the perioperative care of patients with PH. Continued research is needed to refine clinical protocols, evaluate emerging agents, and establish outcome-based evidence for their routine use.
To characterize the clinical, biochemical, radiological, and surgical profile of Cushing disease in a large tertiary-care cohort, with emphasis on age-stratified differences. This retrospective observational audit included 277 patients with confirmed Cushing disease managed at a high-volume tertiary-care center between 2006 and 2025. Baseline clinical, biochemical, metabolic, radiological, and outcome data were extracted from the time of initial evaluation at our center, generally during diagnostic confirmation and before definitive therapy. Hormonal parameters were assessed using electrochemiluminescence immunoassay, and bone mineral density was evaluated using dual-energy X-ray absorptiometry only in a clinically selected subset. Surgical outcomes were assessed based on early postoperative cortisol levels, with remission defined as morning cortisol < 138 nmol/L. The cohort demonstrated a marked female predominance (71.8%), with most patients presenting in the third and fourth decades. Classical cushingoid features were highly prevalent, including weight gain (79.4%), centripetal obesity (62.5%), hyperpigmentation (61.0%), and proximal myopathy (60.6%). Exploratory age-stratified patterns were observed in selected clinical and biochemical variables. Younger patients showed a relatively higher recorded frequency of dermatological and reproductive manifestations, including striae, acne, and menstrual irregularities, whereas the recorded burden of cardiometabolic comorbidities at tertiary-care assessment, including hypertension (70.8%) and diabetes mellitus (48.0%), was higher in older age groups. Body mass index and blood pressure also varied across age groups, although these findings should be interpreted cautiously because of the retrospective design, unequal age-stratum sizes, and absence of adjustment for multiple comparisons. Biochemically, median cortisol levels were elevated across the cohort, with exploratory variation across age groups. Higher cortisol concentrations were observed in younger patients, while adrenocorticotropic hormone levels remained comparable across age decades. Bone mineral density was available in a clinically selected subset of 78 patients. Within this DXA subset, reduced bone density was frequent; however, these findings were not extrapolated to the entire cohort. Transsphenoidal surgery was the primary treatment modality. Numerically similar early remission proportions were observed in microadenomas (72.7%) and macroadenomas (72.2%) in this cohort, with no clear descriptive age-related pattern in early postoperative outcomes. Early biochemical remission was observed in 166/233 surgically treated patients (71.2%), while 67/233 patients (28.8%) had persistent disease. Relapse was assessed only after documented initial remission and occurred in 22/166 patients (13.3%). This large single-center cohort demonstrates substantial recorded clinical and cardiometabolic burden at tertiary-care assessment in Cushing disease. Exploratory age-stratified patterns were observed in clinical phenotype and cortisol profile, while numerically similar early remission proportions were observed across tumor-size categories in descriptive analyses. Bone-density findings apply only to the DXA subset, and non-uniform follow-up limits robust assessment of long-term recurrence.
Genetic predisposition is a risk factor for office hypertension. We sought to determine whether genetic predisposition identifies individuals with ambulatory daytime hypertension. 1444 participants from the GAPP study (ages 25-41) were analyzed. We evaluated two measures of predisposition to hypertension: family history and polygenic risk scores (PRS). We evaluated correlation of predisposition with blood pressure traits and compared incremental value of each predisposition measure to a validated ambulatory BP prediction model. 12% of participants had office hypertension, while 37% had out-of-office hypertension. The correlation between PRS and family history of hypertension was low (R2 = 4.96x10-3), but both were strongly associated with ambulatory blood pressure (2.2 mmHg per 1 SD increase [95% CI: 1.6, 2.7] & 2.4 mmHg increase with positive family history [95% CI: 1.3, 3.4], respectively). PRS provides incremental improvement predicting ambulatory systolic blood pressure beyond a validated blood pressure prediction score (ΔAIC = -33), whereas family history does not (ΔAIC = 1). The difference between a baseline prediction algorithm for identifying ambulatory systolic hypertension (positive likelihood ratio of 6.87 [95% CI: 5.56, 8.49]; negative likelihood ratio of 0.45 [95% CI: 0.39, 0.51]) and the same model with PRS integrated (positive likelihood ratio of 7.69 [95% CI: 6.18, 9.57]; negative likelihood ratio of 0.43 [95% CI: 0.37, 0.49]) was modest. In a white European sample from Liechtenstein, PRS provides incremental information in identification of individuals with ambulatory hypertension, unlike family history. However, these gains are modest and warrant further development to improve predictive utility at the point-of-care.
There is a lack of consensus on the key elements needed to foster clear and effective clinical communication after an episode of inpatient acute kidney injury (AKI). This study sought to achieve consensus on key elements of AKI communication between inpatient and outpatient healthcare professionals. Three sequential rounds of a modified Delphi process to develop, refine, and achieve consensus on items for inclusion in standardized post-AKI clinical communications. Each round included a survey followed by a virtual discussion. Forty-seven participants from 12 countries were recruited through purposive and snowball sampling, including 33 physicians (27 nephrologists), 10 allied health practitioners, and 4 patients and/or caregivers. Quantitative data were summarized using counts and percentages. Qualitative content analysis was performed to capture additional themes. Consensus recommendations (≥80% agreement) and qualitative findings were iteratively integrated into a draft guide. Participants strongly agreed that post-AKI communication between health care teams should focus on medication changes and describe the trends in serum creatinine. For patients requiring dialysis at discharge, the dates dialysis began and was last administered should be reported. Topics of post-AKI communication by clinicians to patients should focus on medication changes as well as follow-up testing and clinical monitoring. Qualitative evaluation highlighted that the effectiveness of a post-AKI clinical communication guide is dependent on the systematic reporting of clinical information, the provision of actionable guidance for health care professionals and patients, and the monitoring for kidney recovery. Potentially limited generalizability because participants were mostly health care practitioners from high resource healthcare settings. A multidisciplinary panel of stakeholders reached consensus on key elements of post-AKI clinical communication. The recommendations may valuably inform post-AKI care.
In view of the substantially increased risk of adverse outcomes, this study aims to determine the concurrent prevalence of hypertension and diabetes, quantify the synergy factor, and assess its age trend in a segment of the Indian population. Electronic health records of more than 56000 persons undergoing health check-up in a group of hospitals were analysed for age-trend and sex differences for hypertension in cases with diabetes and diabetes in cases with hypertension, in addition to the concurrent prevalence. The synergy factor between the two diseases was determined as the occurrence in excess of their joint occurrence by chance. The overall concurrent prevalence was around 5% - nearly twice of that expected by chance if they were independent diseases - thus measuring their synergy. This synergy started to rise rapidly at age around 40 years in either sex, continued to rise until around to 58 years, and then slowed down to plateau at nearly 17% at around 70 years. Hypertension in cases with diabetes was about 4 times as common as in those without diabetes, and diabetes in hypertensive cases was about 2½ times as common as in those without hypertension. The findings quantify the inter-dependence of hypertension and diabetes in a segment of the Indian population and underscore the need for integrated screening strategies, especially around the age of 40 years, to mitigate the dual burden.
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Atherosclerotic cardiovascular disease (ASCVD) remains the leading cause of mortality for people living in the Middle East and North Africa (MENA) region. Accumulation of modifiable ASCVD risk factors such as hypertension, type 2 diabetes mellitus (T2DM), dyslipidemia, smoking, obesity, and physical inactivity leads to a higher magnitude of ASCVD burden. Metabolic syndrome (MetS) is a fundamental clinical factor associated with increased incidence and mortality of ASCVD. This study aimed to assess the prevalence and clinical profiles of MetS among Middle Eastern patients with ASCVD using a newly proposed definition incorporating six modifiable risk factors. We used data from the Jordan absence of standard modifiable risk factors (SMuRF-Less) study, to evaluate demographic, clinical, and laboratory characteristics along with the presence and co-existence of six modifiable risk factors between ASCVD patients with and without MetS. A total of 5540 patients with ASCVD (mean age 57.13 ± 12.31 years) were included. MetS status was available for 1,016 patients, of whom 434 (42.7%) met the criteria for MetS. Patients with MetS were more likely to be aged 46-65 years and had a higher prevalence of hypertension, dyslipidemia (notably hypertriglyceridemia and low HDL levels), T2DM, obesity, and physical inactivity. Additionally, MetS patients showed higher rates of heart failure, chronic kidney disease, obstructive sleep apnea, lower educational levels, higher smoking prevalence, and lack of health insurance. Nearly half of ASCVD patients in this Middle Eastern cohort had MetS. In regions with a high burden of cardiovascular risk factors, effective ASCVD prevention strategies should prioritize early detection and comprehensive management of MetS through control of modifiable risk factors and the establishment of dedicated MetS clinics. : NCT06199869.
This study aimed to evaluate whether the magnesium depletion score (MDS), an indicator of magnesium deficiency, is associated with the development of complex regional pain syndrome type 1 (CRPS-1) in patients with traumatic extremity injuries. Between November 2024 and May 2025, a total of 117 patients who suffered from traumatic extremity injuries were included. Demographic and clinical data of the patients were collected and recorded, and the MDS was calculated. Age, sex, body mass index (BMI), smoking status, alcohol consumption, diabetes, hypertension, duration of immobilization, MDS, and injury-related characteristics were evaluated as potential risk factors for CRPS-1 development. Of the patients, 40 were male and 77 were female with a mean age of 51.9 ± 15.01 (range, 20 to 91 years). In a total of 42.7% of patients with traumatic extremity injuries, CRPS-1 developed. The female-to-male ratio was higher among patients with CRPS-1 than among those without. The MDS, hypertension, diabetes, smoking, and alcohol consumption were not found to be independent risk factors. However, prolonged immobilization (more than one month) was found to be an independent risk factor for the development of CRPS-1. Our study results suggest that the MDS score is not a risk factor for developing CRPS-1, but immobilization for more than one month significantly increases the risk. Taken together, these findings indicate that the duration of immobilization following injury may be a more decisive factor in the development of CRPS-1 than demographic and clinical characteristics.
While portal hypertension (PH) typically resolves after liver transplantation (LT), persistence of PH may affect post-transplant outcomes. We assessed the evolution of PH after LT and its impact on adverse outcomes. We recorded clinical, laboratory, and imaging parameters of LT recipients between 2016 and 2022 in Vienna and Zagreb. Persistent features of CSPH were defined as the presence of portosystemic collaterals, platelet count (PLT) ≤ 110 G/L, and/or splenomegaly (≥ 13 cm). PH-related clinical events were defined as variceal bleeding, ascites requiring intervention, hepatic hydrothorax, portal vein thrombosis, or liver-related death within 12 months post-LT. Post-LT outcomes were analyzed using landmark Cox regression for 3 months post-LT. Of 645 LT recipients (76% male, median age 59 years) listed with a median MELD of 15 points and PLT of 99 G/L, features of CSPH were present in 537 (83.3%) at baseline. At year 1 after LT, MELD improved to 9 (IQR 7-12), PLT increased to 160 G/L (IQR 120-207), and features of CSPH persisted in 251/453 classifiable patients (55.4%). PH events occurred in 75 (11.6%) and 84 (13%) deaths. In a landmark analysis from 3 months post-LT (n = 521, 29 deaths), persistent thrombocytopenia (< 110 G/L) at M3 independently predicted mortality (aHR 2.31, 95% CI 1.01-5.30, p = 0.048) after adjustment for MELD, age, CRP, and pre-LT TIPS. While PH improves after LT, features of CSPH persisted in 55% of classifiable patients and PH-related clinical events occurred in 11.6% within the first year after LT. Persistent thrombocytopenia (< 110 G/L) at 3 months post-LT independently predicted post-LT mortality (aHR 2.31, 95% CI 1.01-5.30, p = 0.048).
Tirzepatide is a once-weekly glucose-dependent insulinotropic polypeptide and glucagon-like peptide-1 receptor agonist (GLP-1 RA) approved in the US for the treatment of Type 2 diabetes (T2D), weight loss and obstructive sleep apnoea. This study aimed to assess the utilisation and effectiveness of tirzepatide among individuals in a large US commercially insured population. This retrospective, observational study used administrative claims and electronic health records from the Healthcare Integrated Research Database (HIRD). Adults with ≥ 1 prescription claim for tirzepatide (for obesity/overweight, without T2D), between November 2023-June 2024 and continuous medical/pharmacy enrollment for ≥ 12 months pre-index and ≥ 6 months post-index were included. Descriptive analyses included baseline demographic and clinical characteristics, treatment patterns and tirzepatide effectiveness (change from baseline in weight, BMI, cardiometabolic risk factors evaluated among persistent individuals) and were stratified by individuals who were GLP-1 RA naïve and individuals who switched to tirzepatide from a GLP-1 RA obesity medication. Of the 22 512 individuals who initiated tirzepatide (mean age: 46 years, 73% female), 55% (n = 12 292) were adherent (PDC ≥ 80%) and 68% (n = 15 208) were persistent during the 6-month follow-up period. Of the overall population, 91% (n = 20 554) had ≥ 1 obesity-related complication at baseline, with dyslipidaemia, hypertension and anxiety being the most frequent complications. Clinically meaningful mean weight reduction (10.5%; n = 808) and numerical reductions in most cardiometabolic risk factors were observed among persistent individuals with available pre- and post-index measurements, including 12.0% body weight reduction in the GLP-naïve subgroup. Over half of US adults with obesity or overweight who initiated tirzepatide were adherent (PDC ≥ 80%) and had a favourable persistence profile during a 6-month follow-up period. Persistent users achieved clinically meaningful weight reduction and numerical reductions in most cardiometabolic risk factors.
Pulmonary hypertension (PH) in preterm infants is a complex and heterogeneous condition that significantly contributes to hypoxic respiratory failure (HRF), bronchopulmonary dysplasia (BPD), and mortality. Unlike term infants, PH in preterm neonates arises from multiple overlapping pathophysiological mechanisms and distinct hemodynamic phenotypes. These diverse phenotypes complicate diagnosis and limit the effectiveness of uniform treatment approaches. Despite increasing recognition of this heterogeneity, current literature and clinical guidelines provide limited clarity on the optimal diagnosis and management of HRF with PH in preterm infants. In particular, the role of inhaled nitric oxide (iNO) remains highly controversial in this population. Although advances in targeted neonatal echocardiography and functional hemodynamic assessment have enhanced our ability to characterize cardiovascular physiology at the bedside, the integration of these tools into standardized management strategies remains inconsistent. As a result, clinical decision-making in preterm infants with PH is often variable and not clearly guided by evidence-based frameworks. This narrative review provides a comprehensive, physiology-based overview of the diagnosis and management strategies for acute PH and HRF in preterm infants, with a focus on the controversies surrounding iNO use and the role of inotropic and vasoactive agents in optimizing hemodynamics. While iNO may improve oxygenation in selected cases, randomized trials have not demonstrated reductions in mortality or BPD in preterm infants, and concerns persist regarding an increased risk of severe intraventricular hemorrhage. Accordingly, management should be guided by the underlying physiological phenotype, integrating clinical assessment, serial functional echocardiographic evaluations, and targeted therapeutic strategies to optimize outcomes in this vulnerable population.
To consolidate evidence on the clinical profile of segmental arterial mediolysis (SAM), and to identify independent predictors of unfavourable outcomes and mortality. PubMed/MEDLINE was systematically searched for SAM reports with patient-level data. Data analysis used chi-square/Fisher's exact, Mann-Whitney, Kruskal-Wallis tests, and multivariable logistic regression, with sensitivity analyses across three subgroups. 230 confirmed cases of SAM were included (mean age 54.5 years; 65% male). Hypertension was the most common comorbidity (21.7%). Most patients (84%) presented acutely, typically with abdominal pain (49%) or hemorrhage (19.6%). Multifocal involvement frequently involved the superior mesenteric (40%), hepatic (40%), and celiac arteries (36.5%). Imaging was dominated by aneurysms (69-100%) and dissections (0-65%). Elevated ESR/CRP was associated with organ ischemia (OR 3.36, 95% CI 1.65-6.86, p=0.002). Management was guided by clinical stability and lesion morphology, with medical therapy and transarterial embolization being the most common. Overall, 81.3% achieved favorable outcomes; 18.7% had progression or death. Overall mortality was 9.1%. Neurological territory involvement (OR 7.25, 95% CI 2.61-20.14, p<0.001) and organ ischemia on imaging (OR 2.56, 95% CI 1.07-6.10, p=0.034) were independent predictors of unfavorable outcome. Neurological involvement (OR 5.73, 95% CI 1.71-19.15, p=0.005) and female sex (OR 3.88, 95% CI 1.38-10.88, p=0.010) were independent predictors of mortality. Findings were robust on sensitivity analyses. SAM typically presents with multifocal mesenteric/hepatic aneurysms or dissections and favorable outcomes with conservative or endovascular management. Neurological involvement and organ ischemia predict worse outcomes, supporting risk-stratified management and surveillance.
Racial disparities in the management of hypertension, a risk factor for cardiovascular disease, are prevalent. Mobile health clinics, including the University of Minnesota (UMN) Mobile Health Initiative (MHI), seek to mitigate these disparities by providing underserved individuals with access to screening for elevated blood pressure. However, the impact of this process on subsequent care, including diagnosis and management of hypertension, is unknown. Individuals with elevated blood pressure at UMN MHI screening events were provided with a free self-monitoring blood pressure device (SMBP) and a follow-up phone call two weeks after the event. The primary outcome was the percentage of participants reached with a follow-up call; secondary outcomes included SMBP usage and arrangement of primary care follow-up. Fifty-six participants were enrolled, with a mean age of 57 ± 14 years, half were women, and more than 80% self-identified as non-white. Thirty-seven (66%) participants were successfully reached with a follow-up phone call. The average time to reach participants was 36 days. Fifteen (41%) required more than one phone call attempt. Of the 37 participants who were successfully contacted, 33 (89%) had used SMBP, 27 (82%) reported using the SMBP at least weekly, and 21 (57%) had contacted their primary care doctor by the time of the follow-up phone call. Participant use of SMBP devices was high; however, contacting individuals for follow-up via phone calls was challenging. Distribution of SMBP devices and follow-up phone calls may be a useful way for mobile health clinics to help individuals with hypertension improve their management through increased awareness and by creating a bridge to primary care follow-up.
Heart failure (HF) and cancer are leading causes of global morbidity and mortality that share a significant bidirectional relationship. Epidemiologic studies reveal that cancer patients and survivors face a substantially elevated risk of HF, largely driven by cardiotoxic systemic therapies including chemotherapy, targeted therapy, immunotherapy and radiation therapy. Conversely, individuals with HF have a markedly increased incidence of cancer. This interconnection is underpinned by age and shared modifiable risk factors, including smoking, hypertension, diabetes and obesity, as well as common pathophysiological mechanisms such as chronic inflammation, neurohormonal activation, oxidative stress and dysregulated angiogenesis. Clonal haematopoiesis of indeterminate potential has emerged as a novel biological link, promoting both maladaptive cardiac remodelling and tumourigenesis. Clinically, the coexistence of HF and cancer creates complex management challenges, as each condition worsens the prognosis of the other and limits therapeutic options. In addition to providing a broad overview of the topic, this review incorporates three aspects that are underexplored in existing cardio-oncology literature-management of advanced metastatic cancer in patients with HF, use of advanced HF therapies in patients with cancer and disparities in cardio-oncology care and clinical trial representation. Effective management of patients with HF and cancer requires a multidisciplinary cardio-oncology approach that incorporates rigorous risk stratification, early detection using serial cardiac biomarkers and imaging and personalised management tailored to cancer treatment. Irrespective, cancer patients with HF have a poor prognosis. It is necessary to balance oncological efficacy with cardiovascular safety while providing a clear definition of the goals of care. Early integration of palliative and rehabilitative care can significantly improve patient quality of life and outcomes. Nevertheless, effective novel treatment strategies have significantly improved the overall survivorship for patients with cancer and/or HF.
Hereditary hemochromatosis (HH) is a genetic disorder characterized by excessive intestinal iron absorption, most associated with HFE C282Y homozygosity. In contrast, H63D homozygosity is considered a low-penetrance genotype that rarely leads to clinically significant iron overload. Bariatric surgery, particularly sleeve gastrectomy, may predispose patients to iron deficiency through reduced gastric acid and altered absorption. We report an unusual case of iron overload physiology in a patient with H63D homozygosity following sleeve gastrectomy, highlighting the diagnostic challenges posed by metabolic comorbidities and altered post-surgical physiology. A 51-year-old man with class III obesity, dyslipidemia, hypertension, vitiligo, obstructive sleep apnea, and a history of sleeve gastrectomy presented for weight management. Despite an initial 97-lb postoperative weight loss, he experienced significant weight regain along with fatigue, decreased libido, and skin darkening. Laboratory evaluation demonstrated hypogonadotropic hypogonadism, elevated serum iron (229 µg/dL), and transferrin saturation (60%) with normal ferritin (118 ng/mL). FibroScan revealed F3 fibrosis and grade 3 steatosis, consistent with advanced metabolic dysfunction-associated steatotic liver disease. Genetic testing confirmed H63D homozygosity. Pituitary MRI was unremarkable. The patient had increased alcohol intake prior to surgery, followed by a substantial reduction to moderate weekend use. The patient's iron overload was notable given his low-penetrance genotype and prior bariatric procedure. This case illustrates the complex interplay between genetic predisposition, metabolic disease, alcohol use, and altered gastrointestinal anatomy in shaping iron indices. It emphasizes the clinical relevance of transferrin saturation and comprehensive metabolic assessment. Clinicians should maintain vigilance for atypical presentations of HH in individuals with metabolic dysfunction or prior bariatric surgery.
Atrial fibrillation (AF) is the most prevalent sustained arrhythmia and is associated with significant morbidity and mortality. Data on AF in hospitalized patients in the Middle East are limited. We analyzed 536 hospitalized patients with nonvalvular AF from the Jordan atrial fibrillation (JoFib) registry. A prospective multicenter study of 2020 patients enrolled between May 2019 and December 2020. Patients were stratified into new-onset atrial fibrillation (NOAF) and previously diagnosed AF, and their clinical characteristics and in-hospital outcomes were compared. The cohort had a mean age of 70.2 ± 14.1 years, and 48.7% were male. The most common comorbidities were hypertension (77.6%), diabetes (52.1%), and heart failure (31.3%). NOAF patients were significantly younger and more likely to be smokers, whereas those with prior AF had more comorbidities and larger left atrial size. Overall, in-hospital mortality was 6.7% but was significantly higher in NOAF patients. Hospitalized patients with NOAF are younger, more often smokers, and face higher in-hospital mortality compared with chronic AF, underscoring the need for early recognition and risk factor modification to prevent hospitalization. ClinicalTrials.gov Identifier: NCT03917992.
Validation of blood pressure (BP) devices is essential for reliable BP detection in pregnant populations. This study, therefore, set out to assess the measurement performance of the iHealth Track KN-550BT oscillometric upper-arm automated BP monitor for pregnant patients with the standard International Organization for Standardization (ISO) 81060-2:2018+AMD1:2020/AMD2:2024. This validation study enrolled a total of 45 pregnant patients. All BP measurements were performed sequentially on the left arm using the ISO unified standardized protocol. Device-reference discrepancies between the tested automated sphygmomanometer and the mercury sphygmomanometer were calculated and evaluated in strict accordance with the ISO standard specifications. The study cohort consisted of 15 normotensive pregnant patients, 15 patients with gestational hypertension, and 15 patients diagnosed with preeclampsia. For the ISO Validation Criterion 1, the mean differences between the test device and mercury standard were -0.90 ± 4.82 mmHg for SBP and -0.91 ± 4.14 mmHg for DBP, respectively. For Criterion 2, the standard deviations of the averaged per-participant differences between device and reference measurements were 3.95 mmHg for SBP and 3.10 mmHg for DBP, respectively. The iHealth Track KN-550BT upper-arm oscillometric automated BP monitor fully complies with the requirements of ISO 81060-2:2018+AMD1:2020/AMD2:2024, and can be recommended for clinical application and home self-BP measurement among pregnant patients.
To validate the accuracy and safety of the Arm-Type Fully Automatic Blood Pressure Monitor (model: DBP-62F4B-P) manufactured by JOYTECH Healthcare Co., Ltd. for blood pressure (BP) measurement in adolescents and adults with arm circumference 22.0-42.0 cm, in accordance with the Association for the Advancement of Medical Instrumentation (AAMI)/European Society of Hypertension (ESH)/International Organization for Standardization (ISO) (ISO 81060-2:2018+Amd 2:2024) international standard. A total of 90 subjects were enrolled. Three valid datasets were collected from each subject, yielding 270 datasets for analysis. The mercury sphygmomanometer (reference device) data were used as the gold standard to evaluate whether the accuracy of the test device met the requirements. Based on 270 valid datasets, the mean difference between the test device and the reference device for SBP was -0.49 mmHg (SD = 7.29 mmHg), and for DBP was 1.45 mmHg (SD = 6.14 mmHg), meeting Criterion 1 requirements. Analysis based on individual averages of the 90 subjects showed a mean difference of -0.49 mmHg (SD = 5.57 mmHg) for SBP and 1.45 mmHg (SD = 5.05 mmHg) for DBP, both meeting the requirements of Criterion 2. The device maintained stable measurement performance across different arm circumferences, ages, and BP levels. The Arm-Type Fully Automatic Blood Pressure Monitor (model: DBP-62F4B-P) meets the accuracy and consistency requirements of the AAMI/ESH/ISO (ISO 81060-2:2018+Amd 2:2024) standard for SBP and DBP measurement in adolescents and adults with arm circumference 22.0-42.0 cm. It can be safely and effectively used for BP monitoring in clinical settings and, by extension, is suitable for home use based on its design features and validation performance.
Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X-linked dominant disorder historically considered lethal in males, with milder presentations now recognized as PORCN non-Goltz spectrum (PONGOS). We report three male patients identified by exome sequencing: one with a mosaic de novo variant (c.727C>T; p.Arg243*) showing FDH features, and two siblings with an inherited non-mosaic variant (c.1315T>G; p.Trp439Gly) from their unaffected carrier mother with a PONGOS phenotype. These cases confirm that male survival is possible with both mosaic and non-mosaic PORCN variants and expand the clinical and molecular spectrum of the disease. Our findings highlight the role of residual protein function in clinical variability and have important implications for diagnosis, genetic counseling, and management in families with apparently unaffected carrier mothers.
Hypertension (HTN) is a major global health burden and a leading risk factor for cardiovascular morbidity and mortality. Although numerous studies have explored host genetic factors and molecular mechanisms underlying HTN, increasing evidence indicates that gut microbiota dysbiosis also contributes to disease development. However, the specific microbial genes involved in HTN pathogenesis and their potential therapeutic targeting remain largely unexplored. This study aimed to identify HTN-associated differentially abundant bacterial genes (DAGs), prioritize bacterial key genes (bKGs) from among them, and repurpose potential therapeutic agents targeting these bKGs using an integrated bioinformatics framework. A total of 167 stool (fecal) microbiome samples, comprising 72 samples from HTN patients and 95 samples from HCs, were analyzed using publicly available 16 S rRNA sequencing data. After quality processing and clustering at 97% similarity, 95,361 representative operational taxonomic units were obtained. Microbial diversity analysis revealed significant alterations in community composition between HTN and HC groups. Differential abundance analysis identified 24 significantly altered bacterial genera associated with HTN. Functional prediction analysis further revealed 28 differentially abundant metabolic pathways and 631 differentially abundant bacterial genes (DAGs) potentially involved in HTN pathogenesis. From these DAGs, protein-protein interaction network analysis prioritized ten hub genes as bKGs (alsB, ampC, gsiB, araC, coaA, dnaB, fruA, ssuA, minE and tsx) representing potential microbial therapeutic targets. Structure-based molecular docking identified five approved drugs, namely Azilsartan, Eplerenone, Candesartan, Conivaptan, and Telmisartan, as top-ranked compounds exhibiting strong binding affinities toward the proposed targets. ADMET evaluation suggested favorable pharmacokinetic and safety profiles for Azilsartan, Eplerenone, and Candesartan. Furthermore, molecular dynamics simulation analyses confirmed that Eplerenone and Candesartan exhibited greater structural stability and sustained binding interactions, suggesting their potential as promising therapeutic candidates for HTN management. Therefore, this study identifies microbial gene signatures potentially involved in HTN and proposes a microbiome-guided drug repurposing strategy targeting bacterial functional pathways. These findings provide novel insights into microbiota-host interactions in HTN and highlight promising therapeutic candidates that warrant further experimental and clinical validation.