Peripheral immune profile and neutrophil-to-lymphocyte ratio in progressive supranuclear palsy: Case-control study and meta-analysis.

BACKGROUND AND PURPOSE: Peripheral inflammation is probably involved in the pathogenesis of progressive supranuclear palsy (PSP) and it may be a common feature with Parkinson's disease (PD). The peripheral immune profile in PSP remains unclear, as well as whether the inflammatory pathways differ from those in PD. The neutrophil-to-lymphocyte ratio (NLR) has been proven to be a well-established biomarker of systemic inflammation. This study aimed to evaluate the peripheral immune profile in PSP compared with PD. METHODS: A cross-sectional study was conducted including patients with PSP and PD and healthy controls (HCs). Leukocyte subpopulations and the NLR were measured in peripheral blood. Multivariate linear regression and post hoc tests were applied. Electronic databases were searched in November 2023 to perform meta-analyses to clarify the peripheral immune profile in PSP. RESULTS: Our cohort included 121 patients with PSP, 127 patients with PD and 266 HCs. The NLR was higher in PSP and PD compared with HCs. PSP had a higher neutrophil count compared with HCs. Whilst a lower lymphocyte count was found in PD compared with HCs, the lymphocyte count did not differ between PSP and HCs. The meta-analyses supported this immune profile. CONCLUSIONS: PSP and PD show an increased peripheral inflammation and a higher NLR compared with HCs. Different pathogenic inflammatory mechanisms are probably involved in PSP and PD, since in PSP this altered peripheral immune profile is mainly driven by neutrophils. Understanding the neutrophils' role in PSP may allow for the development of targeted therapies.

Novel digital-based approach for evaluating wine components' intake: A deep learning model to determine red wine volume in a glass from single-view images.

Estimation of wine components' intake (polyphenols, alcohol, etc.) through Food Frequency Questionnaires (FFQs) may be particularly inaccurate. This paper reports the development of a deep learning (DL) method to determine red wine volume from single-view images, along with its application in a consumer study developed via a web service. The DL model demonstrated satisfactory performance not only in a daily lifelike images dataset (mean absolute error = 10 mL), but also in a real images dataset that was generated through the consumer study (mean absolute error = 26 mL). Based on the data reported by the participants in the consumer study (n = 38), average red wine volume in a glass was 114 ± 33 mL, which represents an intake of 137-342 mg of total polyphenols, 11.2 g of alcohol, 0.342 g of sugars, among other components. Therefore, the proposed method constitutes a diet-monitoring tool of substantial utility in the accurate assessment of wine components' intake.

Combined Physiotherapy and Cognitive Behavioral Therapy for Functional Movement Disorders: A Randomized Clinical Trial.

Importance: Functional movement disorders (FMDs) are frequent and disabling neurological disorders with a substantial socioeconomic impact. Few randomized studies have analyzed the effectiveness of combined physiotherapy and psychotherapy in patients' quality of life. Objective: To assess the efficacy of multidisciplinary treatment (physiotherapy plus cognitive behavioral therapy) in FMDs. Design, Setting, and Participants: This was a parallel, rater-blinded, single-center, randomized clinical trial. Recruitment took place from June 2022 to April 2023, and follow-up visits were performed at months 3 and 5, concluding in October 2023. Participants were recruited from a national referral center for movement disorders: the Movement Disorders Unit from the Hospital Universitario Virgen Rocio in Seville, Spain. Patients had to be 18 years or older with a confirmed FMD diagnosis and capable of giving consent to participate. Patients who did not meet eligibility criteria or refused to participate were excluded. Any uncontrolled psychiatric disorder was considered an exclusion criterion. Interventions: Patients were randomly assigned, in a ratio of 1:1 to multidisciplinary treatment (physiotherapy plus cognitive behavioral therapy), or a control intervention (psychological support intervention). Main Outcomes and Measures: Primary outcomes: between-group differences in changes from baseline to month 3 and month 5 in patients' quality of life (EQ-5D-5L score: EQ Index and EQ visual analog scale [EQ VAS]; and 36-Item Short-Form Survey Physical Component Summary [SF-36 PCS] and SF-36 Mental Component Summary [MCS]). Linear mixed models were applied, controlling by baseline severity and applying Bonferroni correction. Results: Of 70 patients screened with an FMD, 40 were enrolled (mean [SD] age, 43.5 [12.8] years; age range, 18-66 years; 32 female [80%]; mean [SD] age at FMD onset, 38.4 [12.1] years), and 38 completed all the follow-up visits and were included in the analysis for primary outcomes. Multidisciplinary treatment improved SF-36 PCS with a mean between-group difference at 3 months of 4.23 points (95% CI, -0.9 to 9.4 points; P = .11) and a significant mean between-group difference at 5 months of 5.62 points (95% CI, 2.3-8.9 points; P < .001), after multiple-comparisons adjustment. There were no significant differences in other quality-of-life outcomes such as SF-36 MCS (mean between-group difference at 3 and 5 months: 0.72 points; 95% CI, -5.5 to 7.0 points; P = .82 and 0.69 points; 95% CI, 2.3-8.9 points; P = .83, respectively), EQ VAS (9.34 points; 95% CI, -0.6 to 19.3 points; P = .07 and 13.7 points; 95% CI, -1.7 to 29.0 points; P = .09, respectively) and EQ Index (0.001 point; 95% CI, -0.1 to 0.1 point; P = .98 and 0.08 points; 95% CI, 0-0.2 points; P = .13, respectively). At months 3 and 5, 42% and 47% of patients, respectively, in the multidisciplinary group reported improved health using the EQ-5D system, compared with 26% and 16% of patients, respectively, in the control group. Conclusions and Relevance: Results show that multidisciplinary treatment (physiotherapy plus cognitive behavioral therapy) effectively improves FMD symptoms and physical aspects of patients' quality of life. Further studies must be performed to evaluate the potential cost-effectiveness of this approach in FMD. Trial Registration: ClinicalTrials.gov Identifier: NCT05634486.

Genetic surveillance reveals low, sustained malaria transmission with clonal replacement in Sao Tome and Principe.

Despite efforts to eliminate malaria in Sao Tome and Principe (STP), cases have recently increased. Understanding residual transmission structure is crucial for developing effective elimination strategies. This study collected surveillance data and generated amplicon sequencing data from 980 samples between 2010 and 2016 to examine the genetic structure of the parasite population. The mean multiplicity of infection (MOI) was 1.3, with 11% polyclonal infections, indicating low transmission intensity. Temporal trends of these genetic metrics did not align with incidence rates, suggesting that changes in genetic metrics may not straightforwardly reflect changes in transmission intensity, particularly in low transmission settings where genetic drift and importation have a substantial impact. While 88% of samples were genetically linked, continuous turnover in genetic clusters and changes in drug-resistance haplotypes were observed. Principal component analysis revealed some STP samples were genetically similar to those from Central and West Africa, indicating possible importation. These findings highlight the need to prioritize several interventions such as targeted interventions against transmission hotspots, reactive case detection, and strategies to reduce the introduction of new parasites into this island nation as it approaches elimination. This study also serves as a case study for implementing genetic surveillance in a low transmission setting.

Infective Endocarditis Due to Corynebacterium jeikeium: Four Case Reports and Narrative Review of the Literature.

Corynebacterium jeikeium, a pleomorphic Gram-positive bacillus, is a common component of the cutaneous microbiota, usually considered as a contaminant, with little pathogenic potential. However, its role in various types of infections, such as bacteremia, sepsis, endocarditis (IE) and infection of prosthetic material is gradually being proven. Few cases of IE due to Corynebacterium jeikeium have been described in the literature. The aim of this article was to describe four cases of IE due to Corynebacterium jeikeium diagnosed in our hospital between May 2021 and April 2022, as well as to conduct a narrative review of the literature on this entity. After analysis, we highlight that 65.6% were men, 81.3% were valve or intravascular device carriers, and IE cases presented early, before one year after surgery. The most affected valve was the aortic valve (68.8%), followed by the mitral valve (21.1%). Valve replacement was performed in 65.6% of cases, and the most commonly used antibiotic was vancomycin (68.8%) at a dose of 15 mg/kg/12 h. With respect to prognosis, the overall mortality rate was 21.9%. The comparative results between our series and the literature review were similar except for a higher mortality rate (50%) and the use of dalbavancin in the treatment. We go on to review previously reported cases, along with four cases described in our hospital, of C. jeikeium endocarditis and will discuss various aspects of C. jeikeium infection, focusing on microbiology, pathophysiology, and treatment.

Multinational evaluation of anthropometric age (AnthropoAge) as a measure of biological age in the USA, England, Mexico, Costa Rica, and China: a population-based longitudinal study.

OBJECTIVE: To validate AnthropoAge, a new metric of biological age (BA), for prediction of all-cause mortality and age-related outcomes and characterize population-specific aging patterns using multinational longitudinal cohorts. METHODS: We analyzed harmonized multinational data from the Gateway to Global Aging, including studies from the US, England, Mexico, Costa Rica, and China. We used body mass index and waist-to-height ratio to estimate AnthropoAge and AnthropoAgeAccel in participants aged 50-90 years old as proxies of BA and age acceleration, respectively. We compared the predictive capacity for all-cause mortality of AnthropoAge and chronological age (CA) using Cox models, described aging trends in all countries and explored the utility of longitudinal assessments of AnthropoAgeAccel to predict new-onset functional decline and age-related diseases using generalized estimating equations (GEE). FINDINGS: Using data from 55,628 participants, we found AnthropoAge (c-statistic 0.772) outperformed CA (0.76) for prediction of mortality independently of comorbidities, sex, race/ethnicity, education, and lifestyle; this result was replicated in most countries individually except for Mexico. Individuals with accelerated aging had a ~39% higher risk of death, and AnthropoAge also identified trends of faster biological aging per year. In longitudinal analyses, higher AnthropoAgeAccel values were independently predictive of self-reported health deterioration and new-onset deficits in basic/instrumental activities of daily living (ADL/IADL), diabetes, hypertension, cancer, chronic lung disease, myocardial infarction, and stroke. CONCLUSIONS: AnthropoAge is a robust and reproducible BA metric associated with age-related outcomes. Its implementation could facilitate modeling trends of biological aging acceleration in different populations, although recalibration may enhance its utility in underrepresented populations such as individuals from Latin America.

Cardiopulmonary Complications after Pulmonary Embolism in COVID-19.

Although pulmonary embolism (PE) is a frequent complication in COVID-19, its consequences remain unknown. We performed pulmonary function tests, echocardiography and computed tomography pulmonary angiography and identified blood biomarkers in a cohort of consecutive hospitalized COVID-19 patients with pneumonia to describe and compare medium-term outcomes according to the presence of PE, as well as to explore their potential predictors. A total of 141 patients (56 with PE) were followed up during a median of 6 months. Post-COVID-19 radiological lung abnormalities (PCRLA) and impaired diffusing capacity for carbon monoxide (DLCOc) were found in 55.2% and 67.6% cases, respectively. A total of 7.3% had PE, and 6.7% presented an intermediate-high probability of pulmonary hypertension. No significant difference was found between PE and non-PE patients. Univariate analysis showed that age > 65, some clinical severity factors, surfactant protein-D, baseline C-reactive protein, and both peak red cell distribution width and Interleukin (IL)-10 were associated with DLCOc < 80%. A score for PCRLA prediction including age > 65, minimum lymphocyte count, and IL-1ß concentration on admission was constructed with excellent overall performance. In conclusion, reduced DLCOc and PCRLA were common in COVID-19 patients after hospital discharge, but PE did not increase the risk. A PCRLA predictive score was developed, which needs further validation.

Complete Transection of the Abdominal Wall Secondary to Being a Rear Seat-Belted Passenger.

Garrett and Braunstein introduced the concept of the "seat belt sign" in motor vehicle collision (MVC) victims. They defined this as abdominal wall bruising from a lap belt. These signs of trauma are not uncommon. However, "seat belt syndrome," a pattern of musculoskeletal and internal organ injuries resulting from deceleration forces exerted by the safety device is rarely seen. Here, we illustrate a case of traumatic closed rupture of the rectus abdominis muscle secondary to seat belt injury. This potential injury is important to recognize and our case will illustrate the need for careful imaging review and clinical assessment to identify associated intra-abdominal injuries.

Faggot! Dyke! Experiences of Lesbian, Gay and Bisexual Physical Education Teachers and their Strategies in the Face of Homophobia.

The growing visibility of the LGBTQ community and the demand for their rights, also in the educational context, have led, among other things, to a higher focus on the experiences of teachers and the role they play when facing homophobia and promoting diversity and respect. In this sense, lesbian, gay and bisexual (LGB) teachers could experience their sexual orientation and its visibility as a problem. However, specific knowledge about these experiences is limited, also in Physical Education (PE). This study explores these experiences through data collected from 24 in-depth interviews with Primary and Secondary LGB PE teachers in Spain. The results align with the international literature, highlighting that disclosing their sexual orientation is a key aspect of participants' experience. Although teachers agree on the advantages of "coming out of the closet," LGB PE teachers define their strategies based on contextual elements such as fear of the families' reaction, the type of school, or the training received. They develop strategies such as ignoring homophobic acts, reacting against them, or using them educationally. Overall, homophobia in the educational context affects them emotionally. As a conclusion, it is essential to improve training, engage allies, and involve the entire educational community in the fight against homophobia.

Diethyl phthalate and dibutyl phthalate disrupt sirtuins expression in the HepG2 cells.

Background: Phthalates are additives used as plasticizers among other uses, classified as endocrine disruptors and may contribute to some metabolic disorders. The aim of this work was to determine the effect of the exposure of diethyl phthalate (DEP) and dibutyl phthalate (DBP) on cell viability and reactive oxygen species (ROS) production, as well as the regulation of sirloins in HepG2 cells. Methods: HepG2 cells were exposed to DEP or DBP at 0.1, 1, 10 and 100 µg/mL, and after 48 or 72 h the gene and protein expression of sirtuins was quantified by qRT-PCR and Western-Blot, respectively. Results: Results showed that even at a low concentration of 0.1 µg/mL DEP affected the expression of Sirt3 and Sirt4, whereas DBP at 0.1 µg/mL affected Sirt3 and Sirt5 gene expression. Protein analysis showed a reduction in Sirt1 levels at a DEP concentration of 1 µg/mL and higher, while DBP at higher dose (100 µg/mL) decreased Sirt3 protein levels. Cell viability decreased by 20% only at higher dose (100 µg/mL) and ROS production increased at 10 and 100 µg/mL for both phthalates. Conclusion: These findings indicate that exposure to low concentrations (0.1 µg/mL) of DEP or DBP can negatively influence the expression of some sirtuins.

Nurses' opinions on euthanasia in Spain: an evaluation using a new version of the EAS.

BACKGROUND: Bioethical dilemmas at the end of life have led to regularization processes for the provision of medical assistance in dying patients in different countries. Since the regulation of euthanasia in Spain in 2021, the euthanasia act has been included as one of the benefits of the health system, which has undergone uneven development and implementation in different autonomous communities. The aim of this study was to review the Spanish version of the Euthanasia Attitude Scale following the partial modification of four items. METHODS: A cross-sectional study was conducted with a non-probabilistic sample of Spanish health workers from Islas Baleares. A self-reported sociodemographic questionnaire and the Euthanasia Attitude Scale were used for data collection. The psychometric properties of the scale were assessed, including reliability and validity, using a confirmatory factor analysis and a parallel analysis. RESULTS: The Cronbach's alpha of the EAS was α = 0.892, which implies good internal consistency. According to the confirmatory factor analysis, a Kaiser-Meyer-Olkin-value of 0.938 was obtained, and the result of Bartlett's test of sphericity was < 0.001. The questionnaire included four loading factors, which explained up to 56.99% of the variance. The parallel analysis revealed three significant factors and a fourth, less interpretative factor. CONCLUSIONS: The EAS-ES-R is a valid instrument for assessing the attitudes toward euthanasia of both trainees and practicing health professionals. It may also be of vital importance in detecting training, support and implementation needs for laws regulating euthanasia in Spain.

[Prescription of drugs for smoking cessation. Retrospective analysis of the health area of Zamora]. / Prescripción de fármacos para la deshabituación tabáquica. Análisis retrospectivo del área de salud de Zamora.

OBJECTIVE: To analyze the prescription of drugs to aid smoking cessation and to detect whether there are differences by age or sex. DESIGN: Retrospective cohort study. SITE: Zamora Health Area. PARTICIPANTS: Persons with smoking cessation attempts employing drugs funded in the period from 2020 to 2023. INTERVENTIONS: Request of pharmaceutical consumption of varenicline, bupropion and cytisine to the Pharmacy Information System of the Regional Health Management of Castilla y León. MAIN MEASUREMENTS: Number of quit attempts per person, treatment drug, number of medication containers per attempt, year, age and sex. Descriptive and statistical analysis using SPSS© v. 20. RESULTS: 2581 people tried to quit smoking with drugs, 2206 made one attempt and 375 made several attempts. Mean age was 50.7 years (95% CI: 50.2-51.1). No significant differences were found for age (P=.71) or sex (P=.74). There was a preference for prescribing varenicline over bupropion and low drug compliance, with only one container of medication being collected in about 50% of cases. A total of 1680 attempts were made to quit using cytisine in 2023, equivalent to 55.4% of the total number of treatment drugs used in the four years. The estimated cumulative incidence rate of drug withdrawal attempts in smokers between 18 and 65 years of age was 11.9%. CONCLUSIONS: The drug intervention had a low reach and poor compliance with the recommended treatment. It is essential to emphasize patient follow-up and drug adherence.

Conventional and microfluidic methods: Design and optimization of lipid-polymeric hybrid nanoparticles for gene therapy.

Gene therapy holds significant promise as a therapeutic approach for addressing a diverse range of diseases through the suppression of overexpressed proteins and the restoration of impaired cell functions. Developing a nanocarrier that can efficiently load and release genetic material into cells remains a challenge. The primary goal of this study is to develop formulations aimed to enhance the therapeutic potential of GapmeRs through technological approaches. To this end, lipid-polymeric hybrid nanoparticles (LPHNPs) with PLGA, DC-cholesterol, and DOPE-mPEG2000 were produced by conventional single-step nanoprecipitation (SSN) and microfluidic (MF) methods. The optimized nanoparticles by SSN have a size of 149.9 ± 18.07 nm, a polydispersity index (PdI) of 0.23 ± 0.02, and a zeta potential of (ZP) of 29.34 ± 2.44 mV, while by MF the size was 179.8 ± 6.3, a PdI of 0.24 ± 0.01, and a ZP of 32.25 ± 1.36 mV. Furthermore, LPHNPs prepared with GapmeR-protamine by both methods exhibit a high encapsulation efficiency of approximately 90%. The encapsulated GapmeR is completely released in 24 h. The LPHNP suspensions are stable for up to 6 h in 10% FBS at pH 5.4 and 7.4. By contrast, LPHNPs remain stable in suspension in 4.5% albumin at pH 7.4 for 24 h. Additionally, LPHNPs were successfully freeze-dried using trehalose in the range of 2.5-5% as cryoprotectant The LPHNPs produced by MF and SSN increase, 6 and 12 fold respectively, GapmeR cell uptake, and both of them reduce by 60-70% expression of Tob1 in 48 h.Our study demonstrates the efficacy of the developed LPHNPs as carriers for oligonucleotide delivery, offering valuable insights for their scale up production from a conventional bulk methodology to a high-throughput microfluidic technology.

Endoscopic Ultrasound-Guided Tissue Sampling for the Cytohistological Diagnosis of Focal Liver Lesions.

BACKGROUND: Focal liver lesions (FLL) often require cytohistological evaluation. Endoscopic Ultrasound (EUS)-guided tissue acquisition (EUS-TA) is highly accurate in diagnosing pancreatic and gastrointestinal malignancies. The aim of our study was to evaluate the role of EUS-TA in the characterization of FLL. METHODS: A retrospective analysis of a prospective database of patients who underwent EUS-TA for the evaluation of FLL. Diagnostic yield, adverse events and factors associated with diagnostic yield were evaluated as endpoints. The effect of variables such as needle size, lesion size, rapid on-site evaluation (ROSE) and the use of cytological or histological needles were analyzed. RESULTS: A total of 114 cases were included (mean age 68.05 ± 11.35 years, 64 male). A correct diagnosis was made using EUS-TA in 100 of the 114 cases (diagnostic yield of 88%). The EUS-TA of additional extrahepatic lesions during the same EUS procedure increased the diagnostic yield to 94%. No adverse events were reported. Multivariate analysis did not identify any factor influencing the diagnostic yield. CONCLUSIONS: EUS-TA is a highly accurate and safe technique for the differential diagnosis of FLL and could be considered as the primary approach in this setting.

Femoral to abdomen tunneling at the bedside for medium/long term venous access.

BACKGROUND: Femoral to abdomen tunneling of small-bore central venous catheters is a bedside technique for patients with contraindications to a thoracic approach, or as an alternative to a lower extremity catheter exit site. METHOD: A femoral to abdomen tunneling technique was implemented for patients receiving medium and long-term intravenous treatments with contraindications to the thoracic venous approach or as an alternative to a lower extremity catheter exit site. All venous access devices were inserted with ultrasound guidance under local anesthesia, and catheter tip placement assessed by post procedural radiography. RESULTS: In this case series, from January 2020 to January 2023, a total of eight FTA-tunneled venous access devices were inserted. There were seven ambulatory patients and one bedbound patient. The median length of the subcutaneous tunnel was 20 cm, ranging from 15 to 27 cm. The median length of the intravenous catheter to the terminal tip was 31 cm, ranging from 23 to 40 cm. Tip location was confirmed by post-procedural abdominal radiograph. The catheter tip locations were interpreted to be at the level of T8-T9 (2), T12 (1), L4 (2), L2 (2), L1(1).No insertion or post insertion related complication was reported. Six patients completed the scheduled intravenous treatment. One patient was unable to be tracked due to transfer to an outside facility. One catheter initially demonstrated to be coiled over the left common iliac vessel was repositioned using a high flow flush technique. There was one reported catheter dislodgment by the nurse providing care and maintenance. The overall implant days were 961, with a median dwell time of 125 days ranging from 20 to 399 days. CONCLUSION: Femoral to abdomen tunneling provides an alternative exit site useful in select patients with complex intravenous access. The data of this small retrospective review suggests this a safe and minimally invasive bedside procedure.

Prediabetes as a risk factor for all-cause and cause-specific mortality: a prospective analysis of 115,919 adults without diabetes in Mexico City.

BACKGROUND: Prediabetes has been associated with increased all-cause and cardiovascular mortality. However, no large-scale studies have been conducted in Mexico or Latin America examining these associations. METHODS: We analyzed data from 115,919 adults without diabetes (diagnosed or undiagnosed) aged 35-84 years who participated in the Mexico City Prospective Study between 1998 and 2004. Participants were followed until January 1st, 2021 for cause-specific mortality. We defined prediabetes according to the American Diabetes Association (ADA, HbA1c 5.7% to 6.4%) and the International Expert Committee (IEC, HbA1c 6.0-6.4%) definitions. Cox regression adjusted for confounders was used to estimate all-cause and cause-specific mortality rate ratios (RR) at ages 35-74 years associated with prediabetes. FINDINGS: During 2,085,392 person-years of follow-up (median in survivors 19 years), there were 6,810 deaths at ages 35-74, including 1,742 from cardiovascular disease, 892 from renal disease and 108 from acute diabetic crises. Of 110,405 participants aged 35-74 years at recruitment, 28,852 (26%) had ADA-defined prediabetes and 7,203 (7%) had IEC-defined prediabetes. Compared with those without prediabetes, individuals with prediabetes had higher risk of all-cause mortality at ages 35-74 years (RR 1.13, 95% CI 1.07-1.19 for ADA-defined prediabetes and RR 1.28, 1.18-1.39 for IEC-defined prediabetes), as well as increased risk of cardiovascular mortality (RR 1.22 [1.10-1.35] and 1.42 [1.22-1.65], respectively), renal mortality (RR 1.35 [1.08-1.68] and 1.69 [1.24-2.31], respectively), and death from an acute diabetic crisis (RR 2.63 [1.76-3.94] and 3.43 [2.09-5.62], respectively). RRs were larger at younger than at older ages, and similar for men compared to women. The absolute excess risk associated with ADA and IEC-defined prediabetes at ages 35-74 accounted for6% and 3% of cardiovascular deaths respectively, 10% and 5% of renal deaths respectively, and 31% and 14% of acute diabetic deaths respectively. INTERPRETATION: Prediabetes is a significant risk factor for all-cause, cardiovascular, renal, and acute diabetic deaths in Mexican adults. Identification and timely management of individuals with prediabetes for targeted risk reduction could contribute to reducing premature mortality from cardiometabolic causes in this population. FUNDING: Wellcome Trust, the Mexican Health Ministry, the National Council of Science and Technology for Mexico, Cancer Research UK, British Heart Foundation, UK Medical Research Council. Instituto Nacional de Geriatría (Mexico City).

Effect of Obstructive Sleep Apnea during Pregnancy on Fetal Development: Gene Expression Profile of Cord Blood.

Obstructive sleep apnea (OSA) is quite prevalent during pregnancy and is associated with adverse perinatal outcomes, but its potential influence on fetal development remains unclear. This study investigated maternal OSA impact on the fetus by analyzing gene expression profiles in whole cord blood (WCB). Ten women in the third trimester of pregnancy were included, five OSA and five non-OSA cases. WCB RNA expression was analyzed by microarray technology to identify differentially expressed genes (DEGs) under OSA conditions. After data normalization, 3238 genes showed significant differential expression under OSA conditions, with 2690 upregulated genes and 548 downregulated genes. Functional enrichment was conducted using gene set enrichment analysis (GSEA) applied to Gene Ontology annotations. Key biological processes involved in OSA were identified, including response to oxidative stress and hypoxia, apoptosis, insulin response and secretion, and placental development. Moreover, DEGs were confirmed through qPCR analyses in additional WCB samples (7 with OSA and 13 without OSA). This highlighted differential expression of several genes in OSA (EGR1, PFN1 and PRKAR1A), with distinct gene expression profiles observed during rapid eye movement (REM)-OSA in pregnancy (PFN1, UBA52, EGR1, STX4, MYC, JUNB, and MAPKAP). These findings suggest that OSA, particularly during REM sleep, may negatively impact various biological processes during fetal development.

Understanding patient, caregiver, and healthcare provider perspectives of the management of long-chain fatty acid oxidation disorders.

Long-chain fatty acid oxidation disorders (LC-FAODs) are a group of rare, inherited, metabolic disorders that can lead to a wide range of symptoms that predominantly affect organ systems with high energy needs, such as the heart, liver, skeletal muscle, and nervous system. Clinical management primarily consists of close attention to and monitoring of diet and activity and avoidance of prolonged fasting. In addition, patients and caregivers must be alert for signs of life-threatening metabolic decompensation. As a result, LC-FAODs can have significant and wide-ranging impacts on the lives of patients and their caregivers. This article describes the effects of LC-FAODs at different life stages and in the context of the North American healthcare system from the perspective of a group of patients, caregivers, and healthcare providers (n = 6). We explain how challenges and needs change throughout life. Following an early diagnosis, an adjustment phase occurs during which caregivers may feel overwhelmed by their new roles and deeply concerned for their children's futures. As children grow, they become more aware of the differences between themselves and their peers, and with increasing independence comes more responsibility for managing their own condition. Major life events, such as new employment and moving house, pose challenges for people of all ages. In addition, it may be difficult to find and connect with qualified and experienced healthcare providers; navigate the health insurance system; and educate and align primary, specialist, and emergency care providers. We propose several strategies to improve the care of patients with LC-FAODs, such as educating local healthcare teams, improving trust between patients/caregivers and healthcare providers, and raising awareness of the challenges faced by patients and caregivers across the different life stages.

Living with long-chain fatty acid oxidation disorders from the point of view of patient, caregiver, and healthcare providers. What is a long-chain fatty acid oxidation disorder? Long-chain fatty acid oxidation disorders (or LC-FAODs for short) are rare health conditions in which the body cannot use certain types of fats for energy.People with LC-FAODs may have many symptoms. The symptoms mainly affect the muscles, heart, nerves, and liver.LC-FAODs are managed by closely watching what is eaten and when, and how much activity is done. This can be very stressful.Looking out for signs of serious health problems and working out which healthcare team to see and when can also be worrying.For this reason, LC-FAODs can have an impact on the mental health of people living with LC-FAODs and their caregivers. What is this article about? We describe how LC-FAODs affect people at different times in their lives.We write from our point of view as patients, caregivers, and healthcare providers in the United States.We explain how challenges and needs change over time. Initially, parents may find it hard to adjust to caring for a child with an LC-FAOD. They may also be very worried about their child.As people grow older, they must learn to manage their condition on their own.They also need to adjust to major life changes such as moving house and starting a new job.We also talk about how it can be hard to find doctors who know about LC-FAODs because the conditions are so rare.We suggest ways to improve care for people with LC-FAODs and their families, for example: Getting healthcare teams to help each other learn about LC-FAODs by sharing knowledge with each otherHelping people learn about the challenges faced by people with LC-FAODsImproving the trust between patients and healthcare providers.

Low ovarian responders produce more progesterone per follicle than normal and high responders.

OBJECTIVE: Late follicular premature progesterone rise is a complex phenomenon encountered during assisted reproductive technology (ART) treatments; different etiologies can occur in the same patient. Low ovarian responders may be the best example, since higher FSH doses and ovarian aging-related changes may interact and generate a premature progesterone rise. This study aims to explore the correlation between progesterone levels on hCG day and the progesterone-to-follicle index and compare the progesterone-to-follicle index according to ovarian response. METHODS: We performed a retrospective, observational, analytic, cross-sectional, and cohort study at the Reproductive Endocrinology Department at Centro Médico Nacional 20 de November between January 2015 to January 2020. After verifying for normalcy, a Spearman Rho, Principal Component Analysis, and a simple linear regression model were performed. Treatment cycles were classified according to their ovarian response. Low-ovarian responders were classified according to the Bologna Criteria. Then an ANOVA test was performed to compare each group. RESULTS: Our results show that the progesterone-to-follicle index correlates best with progesterone levels on hCG day. Comparing all the ovarian responses, low ovarian responders have the highest progesterone-to-follicle index of the four groups. CONCLUSIONS: Low ovarian responders produce more progesterone per follicle than regular and high responders.