Early Treatment Research Articles

Clinical and genetic characteristics of children with Pitt-Hopkins syndrome caused by TCF4 gene variants

The clinical data of children with Pitt-Hopkins syndrome (PTHS) who were treated in the Affiliated Women and Children's Hospital of Ningbo University from September 2022 to January 2024 were retrospectively included. The patients were followed up to June 2024, and their clinical and genetic characteristics were analyzed. A total of 4 children were included, 2 males and 2 females, with a diagnostic age [M (Q1, Q3)] of 22 (10, 32) months. All the patients presented with typical facial and overall developmental delay (developmental, motor and language delay). The 4 patients were found to harbor de novo heterozygous variants of the TCF4 gene, including the c.990G>A(p.S330S), c.1417_1418delinsT (p.Pro473ArgfsTer15), c.1028C>G (p.S343*) and c.500-2delinsTC. After 15 months of follow-up, all 4 patients received early rehabilitation treatment, and their gross motor function improved to varying degrees, while 3 patients had no improvement in language function. TCF4 gene variation in 4 children had phenotypic heterogeneity, and the main clinical manifestations were developmental delay, language development disorder and special facial features. Among the gene variation types, there was 1 case each of synonym variation, frameshift variation, nonsense variation and splicing variation.

Diagnosis and typing of leukemia using a single peripheral blood cell through deep learning

AbstractLeukemia is highly heterogeneous, meaning that different types of leukemia require different treatments and have different prognoses. Current clinical diagnostic and typing tests are complex and time‐consuming. In particular, all of these tests rely on bone marrow aspiration, which is invasive and leads to poor patient compliance, exacerbating treatment delays. Morphological analysis of peripheral blood cells (PBC) is still primarily used to distinguish between benign and malignant hematologic disorders, but it remains a challenge to diagnose and type these diseases solely by direct observation of peripheral blood(PB) smears by human experts. In this study, we apply a segmentation‐based enhanced residual network that uses progressive multigranularity training with jigsaw patches. It is trained on a self‐built annotated dataset of 21,208 images from 237 patients, including five types of benign white blood cells(WBCs) and eight types of leukemic cells. The network is not only able to discriminate between benign and malignant cells, but also to typify leukemia using a single peripheral blood cell. The network effectively differentiated acute promyelocytic leukemia (APL) from other types of acute myeloid leukemia (non‐APL), achieving a precision rate of 89.34%, a recall rate of 97.37%, and an F1 score of 93.18% for APL. In contrast, for non‐APL cases, the model achieved a precision rate of 92.86%, but a recall rate of 74.63% and an F1 score of 82.75%. In addition, the model discriminates acute lymphoblastic leukemia(ALL) with the Ph chromosome from those without. This approach could improve patient compliance and enable faster and more accurate typing of leukemias for early diagnosis and treatment to improve survival.

Transformer-Enhanced Retinal Vessel Segmentation for Diabetic Retinopathy Detection Using Attention Mechanisms and Multi-Scale Fusion

Eye health has become a significant concern in recent years, given the rising prevalence of visual impairment resulting from various eye disorders and related factors. Global surveys suggest that approximately 2.2 billion individuals are visually impaired, with at least 1 billion affected by treatable diseases or ailments. Early detection, treatment, and screening for fundus diseases are crucial in addressing these challenges. In this study, we propose a novel segmentation model for retinal vascular delineation aimed at diagnosing diabetic retinopathy. The model integrates CBAM (Channel-Attention and Spatial-Attention) for enhanced feature representation, JPU (Joint Pyramid Upsampling) for multi-scale feature fusion, and transformer blocks for contextual understanding. Leveraging deep-learning techniques, our proposed model outperforms existing approaches in retinal vascular segmentation, like achieving a Mean IOU of 0.8047, Recall of 0.7254, Precision of 0.8492, F1 Score of 0.7824, and Specificity of 0.9892 for CHASEDB1 dataset. Extensive evaluations on benchmark datasets demonstrate its efficacy, highlighting its potential for automated diabetic retinopathy screening.

Impact of Bebtelovimab Treatment Timing on COVID-19 Outcomes in Ambulatory Solid Organ Transplant Recipients.

Outcomes after bebtelovimab treatment for COVID-19 were favorable for most but not all solid organ transplant recipients (SOTRs) during the era of Omicron BA.2 to BA.5, but effects of timing of bebtelovimab administration on these outcomes are unknown. We sought to compare outcomes of SOTR who received early bebtelovimab ("EBT", given ≤2days from diagnosis) versus late bebtelovimab ("LBT", given between Days 3 and 7), versus no bebtelovimab (NBT). This was a retrospective cohort study of SOTRs with mild-to-moderate COVID-19, with endpoint of 30-day COVID-19-related hospitalization. Multivariable logistic regression was performed to determine variables associated with receiving EBT, and to assess impact of EBT on hospitalization. A propensity score (PS) was calculated for EBT versus NBT. Of 297 SOTRs, 162 (58.1%) received EBT, 46 (16.5%) LBT, and 71 (25.4%) NBT. Early bebtelovimab treatment was associated with a lower risk of 30-day COVID-19-related hospitalization compared to NBT (OR, 0.112 [95% CI, 0.018-0.686]; p=0.018). There was no significant difference in hospitalization risk between LBT and NBT, suggesting that delayed administration may not confer additional benefits over no treatment. Early bebtelovimab treatment in outpatient SOTRs was associated with a lower risk of hospitalization compared to no treatment, while late administration did not show a significant advantage over no treatment. Although bebtelovimab is no longer authorized, these findings suggest that the timing of COVID therapies for SOTRs may be important to optimize outcomes.

Duodenal Atresia with Apple-peel Intestinal Atresia: a Case with Favorable Outcome

Objective − Duodenal atresia with apple-peel intestinal atresia remains a difficult and complex condition, even with advances in medical and surgical therapies. Due to the significant difference in etiology, the association between these two types of atresia is very rare and is associated with a high rate of mortality. Only twelve of these cases have been described so far in English literature, most often with a poor outcome. Our patient survived and is doing well.Case Report − Here, we present a premature infant in whom intestinal atresia was suspected prenatally. On the first day of life, based on clinical, radiographic and ultrasound examination, suspicion was confirmed and surgical intervention was performed. It was discovered that the proximal part of the duodenum blindly ends with a large dilation. The proximal jejunum also ends blindly and the distal small intestine wraps around a single mesenteric vessel in a spiral fashion reminiscent of an “apple-peel.” At the first operation (on the first day of life), a double enterostomy of the proximal duodenum and the proximal jejunum was performed. On the second operation (on day 10), the continuity of the digestive intestine was established by end-to-end duodeno-jejunal anastomosis. Progress in body mass was confirmed during the postoperative period and normal stool was formed on a regular basis.Conclusion − Based on our case, possible reasons for the good outcome of patients with these rare forms of intestinal atresia are prenatal suspicion, early postnatal diagnosis, and early surgical intervention. Further studies should investigate the possibility of a common cause of duodenal atresia and apple-peel atresia to facilitate early diagnosis and early treatment.

Implementing the WHO ICOPE program in clinical practice: three years of lessons from monitoring 27,082 participants using the ICOPE Monitor digital tool.

To describe the implementation of the ICOPE program in France using digital tool in order to: 1) describe the characteristics of people completing the screener, identifying differences across assessors (Health Care Professionals (HCP), non-HCPs or self-assessment) 2) describe the characteristics of follow-up and assessments for people with abnormal screening test 3) describe the recommendations in the intervention care plans for people with a decline in intrinsic capacity (IC). A descriptive study, presenting the results at initial screening, as well as at assessment when needed; and the recommendations issued during Step 3. We compared these results based on whether the participant was enrolled by an HCP, by a non-HCP, or self-assessment. 27,082 participants were enrolled. 67.9% were registered by HCPs. 90.8% participants screened positive at Step 1. Participants who completed the self-assessment were significantly younger (70.9 years versus 76.4 for HCPs or 77.9 for non-HCPs, p<0.01) and less frequently had alerts in Step 1 (83.8% versus 90.8 for HCPs or 94.8 for non-HCPs). Step 2 in-depth assessments were carried out for 8.9% of the participants. In step 2, only the SPPB showed significantly better motor abilities in individuals enrolled through self-assessment (median and IQR: 11(10 - 12) versus 10(8 - 12) for HCPs and 10(7 - 12) for non-HCPs). Prevention care plans were proposed, mainly physical activity (n=833 - 33.7%) and nutrition counseling (n=1,233 - 51.7%). This study highlights the major role of HCPs in the implementation of the ICOPE program. Self-assessment enables the enrollment of more robust seniors, allowing to an early detection and treatment.

A Case of Acute Necrotizing Encephalitis Misdiagnosed as Opium Poisoning: A Case Report

Introduction: The coronavirus has been associated with significant neurologic complications, including encephalopathy, seizures, ataxia, and motor or sensory deficits. Among these complications, acute necrotizing encephalopathy (ANE) is a rare condition linked to viral infections such as influenza, HHV-6, and COVID-19. This study presents a unique case of ANE in a COVID-19 patient, initially misdiagnosed as opium poisoning. Despite the reduction in pandemic cases, COVID-19 continues to present serious side effects, emphasizing the need to recognize potential neurological manifestations of the virus. Increased awareness and accurate diagnosis are essential for managing these complex cases. Case Presentation: This case study involves a 29-year-old female patient presenting with loss of consciousness and other symptoms that led to a diagnosis of COVID-19-related acute necrotizing encephalitis. Initial suspicions of opium poisoning were ruled out, and imaging tests revealed bilateral ground-glass opacities (GGO) and consolidation in the chest, along with abnormal findings in the brain. The patient was treated with glucocorticoid pulse therapy and IVIG, resulting in symptom improvement, though some neurological deficits persisted at discharge. This case underscores the importance of considering COVID-19 in cases of acute encephalitis and highlights the neurological complications associated with the virus. Conclusions: This study explores ANE as a severe manifestation of COVID-19 infection, focusing on the diverse neurological presentations associated with ANE in COVID-19 patients and a case initially misdiagnosed as opium poisoning. Through a case study of a patient with ANE, characterized by loss of consciousness and meiotic pupils, the research emphasizes the need for early detection and appropriate treatment. Findings suggest that ANE in COVID-19 patients can present with varied symptoms, posing diagnostic challenges. The study underscores the value of timely intervention with glucocorticoid pulse therapy and gamma globulin injection to improve patient outcomes. These findings highlight the necessity for increased awareness among healthcare providers to promptly recognize ANE in COVID-19 patients, aiding in timely and effective intervention.

NVESTIGAÇÃO CLÍNICA DE DOENÇA INFLAMATÓRIA INTESTINAL EM CÃES (DII): ESTUDO DE CASO

Inflammatory Bowel Disease (IBD) in dogs is a chronic condition that affects the gastrointestinal tract, manifesting through symptoms such as diarrhea, vomiting, and weight loss. This case study aims to analyze the occurrence of IBD in a dog, highlighting the difficulties in early diagnosis and appropriate treatment. The medical record of a dog with chronic gastrointestinal symptoms was reviewed, focusing on the tests performed and the treatment administered. The analysis revealed shortcomings in the diagnostic process, including the underutilization of complementary tests, such as endoscopy with biopsy, and the lack of early referral to a veterinary gastroenterology specialist. The study emphasizes the importance of a specific clinical protocol for differential diagnosis and appropriate treatment of IBD.

Changes in choroidal thickness quantified by Optical Coherence Tomography across cognitive impairment: data from the NORFACE cohort.

Optical coherence tomography (OCT) enables high-resolution imaging of ocular structures in health and disease. Choroid thickness (CT) is a key vascular retinal parameter that can be assessed by OCT and might be relevant in the evaluation of the vascular component of cognitive decline. We aimed to investigate CT changes in a large cohort of individuals cognitive unimpaired (CU), with mild cognitive impairment due to Alzheimer's (MCI-AD), mild cognitive impairment due to cerebrovascular disease (MCI-Va), Alzheimer's disease dementia (ADD), and vascular dementia (VaD). Clinical, demographical, ophthalmological and OCT data from the Neuro-ophthalmological Research at Fundació ACE (NORFACE) project were analyzed. CT was assessed in the macula across nine Early Treatment Diabetic Retinopathy Study (ETDRS) quadrants, average thickness, total volume, and subfoveal choroidal thickness. Differences of CT among the five diagnostic groups were assessed in a multivariate regression model, adjusting for demographic and cardiovascular risk factors and OCT image quality. A comparison between manual and automatic CT measurements in a subset of participants was also performed. The study cohort comprised 1,280 participants: 301 CU, 196 MCI-AD, 112 MCI-Va, 578 ADD, and 93 VaD. CT was significantly increased in individuals with cognitive impairment compared to those CU, particularly in the VaD and MCI-Va groups and in the peripheral ETDRS regions. No significant differences were found in inner superior, center and subfoveal choroidal thickness. The interaction of sex and diagnosis had no effect in differentiating CT. Mini-Mental State Examination (MMSE) scores were not correlated to CT. Manual and automated CT measurements showed good reliability. Our findings indicated that peripheral choroidal thickening, especially in patients with cerebrovascular disease, may serve as a potential choroidal biomarker for cognitive decline and suggest different pathogenic pathways in AD and VaD. Further research is required to explore CT as a reliable ocular biomarker for cognitive impairment.

Beyond the Scale: Exploring the Endocannabinoid System's Impact on Obesity.

This review explores the role of the endocannabinoid system (ECS) in regulating energy balance, food intake, and metabolism, with a focus on how ECS dysregulation contributes to obesity. The goal is to provide insights into the mechanisms underlying obesity and its associated metabolic disorders. Recent research indicates that the ECS significantly influences food intake, fat storage, insulin sensitivity, and inflammation, all of which are central to the development and progression of obesity. New research areas include the interaction between the ECS and gut microbiota, circadian rhythms of the ECS, and the impact of genetic and epigenetic factors on ECS function. Interest in the therapeutic potential of targeting the ECS has grown, with earlier treatments like CB1 receptor antagonists showing mixed results in efficacy and safety. Evidence from both animal and human studies highlight the impact of elevated levels of the endocannabinoids anandamide and 2-AG on food intake, insulin resistance, visceral fat accumulation, and metabolic disturbances associated with obesity. The review explores the interaction between the ECS and other physiological systems, including gut-brain communication, circadian rhythms, as well as leptin and ghrelin signaling. Additionally, genetic and epigenetic factors influencing ECS function are examined, emphasizing their contribution to obesity susceptibility. While therapeutic approaches targeting the ECS, particularly CB1 receptor antagonism, have shown potential in managing obesity, the review acknowledges the challenges posed by central nervous system side effects in earlier treatments like rimonabant. However, recent advancements in peripherally restricted CB1 antagonists offer renewed hope for safer and more effective obesity treatments. The review concludes by addressing future research directions and therapeutic strategies to combat this global health challenge.

Cutting-Edge Deep Learning Strategies for Precise Ovarian Disease Detection: A Comprehensive Review

Accurate and timely diagnosis of ovary-related diseases is of paramount importance in the realm of medical imaging. Utilizing deep learning technology has emerged as a viable method to improve the precision and effectiveness of medical image segmentation, which directly impacts the detection of ovarian diseases. Ovarian disease detection through medical image segmentation is critical for early diagnosis and effective treatment. This study evaluates cutting-edge deep learning strategies using the MMOTU ovarian tumour ultrasound dataset, which includes OTU 2D and OTU CEUS subsets. We implemented various models, including U-Net, its variants with ResNet and DenseNet backbones, CR-Unet, and Ocys-Net, along with ensemble learning and transfer learning techniques. Results show that while the baseline U-Net is effective, advanced models, particularly CR-Unet and DenseNet, significantly improve segmentation accuracy. The best performance was achieved using an ensemble model and a fine-tuned pre-trained network, highlighting the potential of these approaches in enhancing the precision and reliability of ovarian disease detection.

Management of traumatic duodenal rupture in children-case series.

Traumatic duodenal rupture is rare which accounts for only 2-10% of all Blunt abdominal trauma. The purpose of this study was to investigate the experience of diagnosis and treatment of traumatic duodenal rupture in children. This was a retrospective case series study. Clinical data were collected from three children suffering from a traumatic duodenal rupture who received surgical treatment in our hospital from January 2013 to January 2023. Demographic characteristics, trauma mechanism, physical examination, auxiliary examination, operation timing and plan, postoperative management and follow-up of included patients were described. Summarize the importance of early diagnosis and treatment of this type of injury. Three children (1 male and 2 females) with duodenal rupture due to traumatic abdominal injury were included in the study, with average age of 8.2 years (range 2.75-13.25 years). Among them, One child was injured by heavy objects. The other two children had lumbar fracture and seat belt sign. All three patients underwent emergency operation within 24h, and recovered well after surgery. No related complications seen during follow-up. Duodenal rupture is a rare but fatal disease. Early identification and active abdominal exploration can reduce the incidence of related complications and mortality in children with blunt abdominal injury, especially those with seat belt sign. Simultaneously, the standardized postoperative management is significant for the cure of children.

Deciphering the enigma of glomus tumors: A case series

Glomus tumors are rare contributing to less than two percent of all soft tissue tumors. Given the rarity of this tumor, there is a possibility of low suspicion and a missed clinical diagnosis. This case series suggests diagnostic and morphological clues for early diagnosis of this tumor.This retrospective study includes nine interesting cases of glomus tumors from January 2015 to January 2024. Data was tabulated and analysed by descriptive statistics using Microsoft Excel 2016. In this series the glomus tumors showed a mean age of (37.67± 17.5 years). Male to female ratio was 1.25:1. Most common sites were digital parts of extremities (5/9, 55.56%). Four of these digital locations were subungual (4/5, 80%). The left side (5/9, 55.56%) was the most common laterality. Duration of symptoms till diagnosis was established showed a median of three months [range was one month to nine years]. All nine cases presented with pain. The mean size of glomus lesions was 2.1±1.5 cm). Multiplicity was observed in (2/9, 22.22%) cases. Eight cases were benign (8/9, 88.89%) while one was malignant (1/9, 11.11%). Two out of these eight benign cases were glomangiomatosis. Excision biopsy was the surgical procedure performed in all of our benign cases while the malignant case was treated with amputation of the finger.Diagnosis of glomus tumors requires a high index of clinical suspicion, especially in extra-digital locations. Awareness is essential for early diagnosis and treatment of this lesion, as it is an extremely painful condition and pain is out of proportion to the size of the lesion. Magnetic Resonance Imaging (MRI) is the first investigation of choice for imaging. An early biopsy can confirm the diagnosis of a glomus tumor in time. Complete surgical excision is curative with a low risk of recurrence.

PREDICTIVE MARKERS FOR ADVERSE PREGNANCY OUTCOMES: INSIGHTS FROM A PROSPECTIVE COHORT STUDY ON MATERNAL FACTORS, BIOMARKERS, AND UTERINE ARTERY DOPPLER RESULTS

Objective: Effective prediction tools are necessary for better outcomes when it comes to pregnancy-related complications such as intrauterine growth restriction (IUGR), pregnancy-induced hypertension (PIH), and premature birth. In order to improve early risk diagnosis and treatment, this study investigates relationships between maternal variables, first-trimester biomarkers, and second-trimester uterine artery Doppler findings. Methods: Correlations between demographic characteristics, maternal dual test indicators (serum beta-HCG, serum PAPPA), and uterine artery Doppler tests were examined in a prospective cohort study including 500 pregnant women. Statistical studies evaluated correlations with IUGR, PIH, and premature birth. Results: Serum beta-HCG levels below the 5th percentile correlated significantly with preterm birth (RR 2.3131, p = 0.0288). Low serum PAPP-A levels (&lt;5th percentile) associated with PIH (RR 2.1447, p = 0.0204) and IUGR (RR 2.0953, p = 0.0002). Uterine artery Doppler indices (&gt;0.58 RI) demonstrated associations with PIH (RR 2.2448) and IUGR (RR 1.6293). Diastolic notching correlated with preterm birth, PIH, and IUGR. Conclusion: The potential of serum beta-HCG, PAPP-A, and uterine artery Doppler indices as useful predictors of unfavorable pregnancy outcomes is highlighted by this study, which also highlights their use in early risk detection.

Understanding oral malignancies: 2 case reports

The clinical presentation, diagnosis, and management of several squamous cell carcinoma cases are covered thoroughly. Roughly 94% of all mouth malignancies are squamous cell carcinomas. Race, gender, and age group differences exist in annual incidence and mortality rates. This percentage is 7.7 per 100,000 in the US. Like other carcinomas, intraoral carcinoma is more common in older adults, especially in men. Individuals with oral SCC have often known about an abnormality in that area for four to eight months prior to seeking professional medical attention. Early growth is characterized by little discomfort, which may account for the delay in seeking professional assistance. The clinical manifestations of oral SCC include exophytic, endophytic, leukoplakic, and erythroplakic, all of which exhibit apparent surface alterations.Tobacco usage, excessive alcohol consumption, HPV infection, eating little fruits and vegetables, prolonged sun exposure, and having a compromised immune system are risk factors. Improving outcomes requires early discovery and treatment, which may include chemotherapy, radiation therapy, surgery, or a combination of these. In order to improve the prognosis for oral cancer, early identification and intervention are crucial. Survival risk from squamous cell carcinoma is often low. This article emphasis on the clinical presentation of oral malignancies.

Knowledge and concern towards endometriosis among Lebanese women: a cross-sectional study.

Endometriosis is a prevalent disease among women worldwide, including the Middle East. Insufficient knowledge about the disease causes delayed diagnosis which could result in major complications, particularly infertility. Thus, being aware of the symptom's aids in prompt diagnosis and treatment. Furthermore, no research has been done in Lebanon to assess the Lebanese women's knowledge about endometriosis. To determine the understanding and concerns of Lebanese women about endometriosis which aids in identifying knowledge gaps and misconceptions so that they can be addressed. A cross-sectional study was conducted between February and March 2024 among Lebanese females, who completed the authors' online questionnaire assessing knowledge and concern about endometriosis and its associated symptoms, Multivariable logistic regression analysis was used to explore the relationship between score of knowledge and different characteristics of patients. A survey of 725 Lebanese women (mean age 32.5 years, SD = 9.5) revealed low knowledge (25.9%) about endometriosis origin, symptoms, and treatment. Over 60% were unaware of endometriosis symptoms, while 9.9% mistakenly believed menstrual cramps indicated the disease. Younger age (< 35 years), higher education (Master's degree or above), professional occupation, lower pregnancy and live birth rates, and no history of abortion, endometriosis, pelvic inflammatory disease, uterine or ovarian conditions, and pelvic surgeries were significantly associated with greater knowledge of endometriosis. Lebanese women's knowledge of endometriosis is limited. This highlights how crucial medical education and awareness initiatives are in addressing the issue in Lebanon. Greater awareness of endometriosis will encourage Lebanese women to seek medical advice and consultation, resulting in earlier detection and treatment.

Analysis of early results of edoxaban and warfarin in the treatment of deep vein thrombosis

Aim: Deep Vein Thrombosis (DVT) is an acute onset disease. Warfarin and new oral anticoagulants (NOAC) can be used for treatment. Edoxaban is one of the NOACs that acts directly as a ‘Factor Xa inhibitor’. The aim of our study was to investigate early treatment complications and efficacy in patients treated with warfarin and edoxaban. Material and Methods: The results of a total of 100 patients who started drug treatment for DVT between September 2018 and March 2020 were retrospectively analysed. The patients included in the study were divided into two groups according to the type of anticoagulant used [Warfarin (n=50), Edoxaban (n=50)]. Patients' routine examinations and colour Doppler ultrasound (CDUSG) results at baseline and 1-month follow-up were compared with their bleeding status. Results: Clinical status and CDUSG revealed acute DVT in 57 patients, subacute DVT in 32 patients, and chronic DVT in 11 patients. The recanalisation rate at 1 month was higher with edoxaban (80%) and lower with warfarin (62%) and this difference was statistically significant (p=0.008). The most common complication during follow-up was minor bleeding, which occurred in 24% and 18% of patients using Warfarin and Edoxaban, respectively. There was no mortality due to minor, major or cerebrovascular events in any of the patients. Conclusion: In our study, we evaluated the early results of anticoagulant therapy in patients with DVT and found faster recanalization and fewer complications in the NOAC group in agreement with the literature. Further randomised, advanced and large-scale studies are needed to evaluate the efficacy of the drugs.

Identification and transfer to stepped care of depressed and psychosocially stressed parents during peri- and postpartum-UPlusE: study protocol for cluster randomized trial of a screening intervention.

Perinatal depression affects 10-15% of mothers and approximately 5% of fathers. However, only a small number of affected individuals seek treatment. If left unrecognized and untreated, it can have negative long-term consequences for the family's health, leading to subsequent high costs. Early treatment is crucial, yet there is a notable underdiagnosis and undertreatment. Affected individuals are often seen during this time, e.g. in paediatric practices, but not by specialists in mental health. Consequently, this study aims to increase detection and treatment rates of affected individuals by implementing a screening for depression and psychosocial stress in perinatal and postpartum parents within routine obstetric and paediatric care with subsequent advice and-if necessary-further referral to a mental health specialist. UPlusE is a prospective, cluster-randomized controlled trial conducted in an outpatient setting. Obstetric and paediatric practices will be randomized into an intervention and control group (1:1 ratio). Practices and enrolling patients will be required to use specific smartphone apps (practice apps) for interaction. The screening will occur with the apps at each paediatric checkup up to the child's age of 12months, using the Edinburgh Postnatal Depression Scale (EPDS), KID-PROTEKT questionnaire, and the scale 1 (impaired bonding) of the Postpartum Bonding Questionnaire (PBQ-1). The goal is to screen 10,000 patients across Germany. Gynaecologists and paediatricians will receive certified training on peripartum depression. Participants in the intervention group with scores above cut-offs (EPDS ≥ 10, KID-PROTEKT ≥ 1, PBQ-1 ≥ 12) will receive counselling through their treating gynaecologists/paediatricians and will be provided with regional addresses for psychiatrists, psychotherapists, and "Frühe Hilfen" (early prevention) as well as family counselling centres, depending on symptom severity. At each screening, participants will be asked whether they sought support, where, and with whom (utilization). Utilization is the primary outcome. The screening is designed to reduce underdiagnosis to enable suitable support at an early stage (especially for those often overlooked, such as individuals with "high-functioning depression") and hence to avoid manifestation of mental health problems in the whole family, especially infants who are exceptionally dependent on their parents and their well-being will benefit from this program. German Clinical Trials Register, DRKS00033385. Registered on 15 January 2024.

Enzyme-free and highly sensitive detection of human epidermal growth factor receptor-2 based on MNAzyme signal amplification in breast cancer.

As a common cancer biomarker, human epidermal growth factor receptor-2 (HER2) is highly expressed in breast cancer. Consequently, developing a simple and accurate HER2 sensing platform is of great significance for early diagnosis and treatment of breast cancer. Herein, we developed a rapid enzyme-free fluorescent assay biosensor based on MNAzyme signal amplification for breast cancer biomarker, HER2. The MNAzyme consists of multiple parts, including complementary DNA (cDNA) and two parts of DNAzyme (partzyme A/B). Initially, cDNA is blocked by combining with the HER2 aptamer to form a double-stranded DNA. When HER2 is present, cDNA is released as a result of the binding between HER2 and its aptamer. Due to the complementary sequences among cDNA and partzyme A/B, the MNAzyme is successfully assembled to cleave the substrate, recovering the fluorescence output. The MNAzyme biosensor exhibited a low detection limit of 0.02 ng mL-1 and excellent selectivity. Furthermore, the proposed biosensor can also change the recognition element by changing the aptamer sequence to detect various biomarkers, holding great potential for cancer diagnosis and other related biomedical applications.

Effect of adipose tissue deposition on insulin resistance in middle-aged and elderly women: Based on QCT and MRI mDIXON-Quant.

To explore the relationship between adipose tissue deposition and triglyceride-glucose (TyG) index, an indicator clinically used to assess insulin resistance (IR), in middle-aged and elderly women using quantitative computed tomography (QCT) and MRI mDIXON-Quant sequence. All participants underwent quantitative computed tomography (QCT) and MRI mDIXON-Quant examination and calculated the TyG index based on the fasting blood glucose and triacylglycerol. Bounded by the median TyG index, all participants were divided into low TyG group and high TyG group. Visceral fat mass (VFM) and subcutaneous fat mass (SFM) were measured on QCT images. Hepatic proton density fat fraction (H-PDFF), pancreatic proton density fat fraction (P-PDFF), and lumbar bone marrow fat fraction (L-BMFF) were measured on MRI mDIXON-Quant images. Adjusting for age and body mass index (BMI), TyG was moderately positively correlated with H-PDFF, and r/P was 0.416/<0.001, TyG index was weakly positively correlated with VFM and P-PDFF, and r/P were 0.385/<0.001 and 0.221/0.030. There was a difference of VFM, H-PDFF, and P-PDFF between low TyG group and high TyG group (P < 0.05). Adjusting for age and BMI, VFM, and H-PDFF were the risk factors of high TyG, and H-PDFF was the independent risk factor of high TyG. VFM and H-PDFF were the risk factors of IR, and H-PDFF was the independent risk factor. Early identification and active treatment of adipose tissue deposition, especially hepatic fat deposition, may reserve and delay the progression of IR and even metabolic syndrome.