Runs of homozygosity (ROH) are increasingly being analyzed using whole genome sequences in non-model species as a measure of inbreeding and to assess demographic history, thus providing useful information for conservation. However, most studies have used Plink for ROH inference which has been shown to perform poorly when sequencing depth is below 10X, often underestimating the true proportion of the genome in ROH, which could lead to erroneous status assessment and management decisions. We use whole genome sequences from caribou, a non-model species at risk, subsampled to sequencing depths ranging from 1X to 15X, to assess the performance of ROHan, a program developed to enable ROH estimation using lower coverage sequences but so far only optimized for human data. We use 22 individuals with varying extent of inbreeding to assess the effects of sequencing depth, input parameters, and demographic history on the inference of ROH. We found that accurate estimation of the percentage of the genome and lengths of ROH can be achieved down to depths as low as 3-5X. However, input parameters and the demographic history of the individual can have a dramatic effect on results. Using our optimized settings, we then re-analyze low coverage sequences from a small and isolated caribou population and demonstrate high levels of inbreeding which had previously been missed. We provide recommendations for thorough optimization of parameters including the need for multiple runs as well as careful interpretation of outputs to enable robust ROH inference using low coverage whole genome sequences in wildlife species.

Objective: To evaluate the predictive value of maternal neutrophil-to-lymphocyte ratio (NLR) for spontaneous delivery within 24 hours in women with preterm premature rupture of membranes (PPROM). Study Design and setting: Retrospective cohort study in a single, university-affiliated tertiary medical center. Population: Women with PPROM at <33+6 weeks’ gestation planning vaginal delivery. Exclusions included cases of labor induction or cesarean delivery. Main outcome measure: Women who delivered spontaneously within 24 hours from rupture of membrane Methods: Maternal demographic and clinical data, including age, gestational age, body mass index, parity, and mode of conception, were collected. Women who delivered spontaneously within 24 hours of membrane rupture were compared to those who did not via univariate and multivariate Cox analyses.   Results:  Among 145,833 deliveries during the study period, 1,442 women (0.9%) presented with PPROM. After exclusions, 249 women were included, with 115 (46.2%) delivering spontaneously within 24 hours. Cox regression analysis identified NLR >10 (HR = 2.86, 95% CI 1.42–5.7, p = 0.003) and multiple gestation (HR = 5.87, 95% CI 2.57–13.45, p < 0.001) as independent risk factors for spontaneous delivery within 24 hours. Conclusion: An elevated maternal NLR is a promising predictor of spontaneous delivery within 24 hours in PPROM cases. These findings support the potential of NLR as a practical clinical tool for anticipating imminent preterm delivery, aiding in management decisions for this population. Funding: None.

Atmospheric Pressure Solids Analysis Probe (ASAP) Mass Spectrometry was used for the rapid analysis of 250 synthetic opioid standards, including 210 fentanyl analogs of similar molecular weight and structure, 32 non-fentanyl related opioids, and 8 fentanyl precursors. Using four cone voltages (5, 15, 35 and 50 V) both precursor and product ion mass information was obtained for all standards. The accumulated spectral data was used to build a spectral library, which was utilized to create and validate a statistical model via LiveID software. To assess the accuracy of the database, 5 blind and 4 dirty cook fentanyl samples were analyzed. Using LiveID, obtained data for each sample was processed and matched against all compounds in the spectral library to produce matching scores that ranged from 0- 999. For all samples, the correct identity of each fentanyl analog was ranked within a score of 800 -997. Thus, proving that ASAP, when used alongside a real-time sample recognition software, such as LiveID, can help conduct presumptive testing for fentanyl and fentanyl analogs in blind and dirty samples, making it a promising alternative to some of the most commonly used analytical screening techniques.

Background: Genital tuberculosis (TB) is a significant cause of infertility in high disease burden countries. Assisted Reproductive Therapy (ART) success in this population remains unclear. Objectives: To conduct a systematic review and meta-analysis to assess ART outcomes in women with a history of TB. Search Strategy: Studies were identified through PubMed, Embase, Global Health and Cinhal. Selection Criteria: Studies reporting ART outcomes in women with a history of TB, compared to women without TB, were included. Studies without a non-TB comparison group were excluded. Data Collection and Analysis: Four authors independently screened articles. Risk of bias was assessed with the Newcastle-Ottawa Score. Meta-analysis was performed with random-effects models to compute odds of clinical pregnancy, miscarriage, live birth and mean differences in oocytes retrieved. Main Results: Of 1184 records identified, 12 studies were included. Ten studies underwent meta-analysis, comprising 3,532 TB patients and 9,163 non-TB patients. Women with TB had significantly lower odds of clinical pregnancy (odds ratio [OR] 0.82, 95% CI [0.67, 1.01], p=0.06) and live births (OR 0.74, 95% CI [0.61, 0.90], p=<0.001). The odds of miscarriage (OR 1.37, 95% CI [0.91, 2.05], p=0.13) was higher in TB patients with a trend towards significance. Mean number of oocytes retrieved (mean difference -0.20, 95% confidence interval CI [-1.32, 0.92], p=0.73) was not different between the groups. Conclusions: ART outcomes are poorer in women with a history of TB. Variability in study quality and bias suggests the need for multi-centre studies with standardized reporting of ART outcomes and TB treatment.

“‘latex Wading birds have declined globally with pronounced declines in Western Europe. Multiple species are now IUCN Red listed, with northern lapwing (Vanellus vanellus) near threatened and declining. Declines have been attributed to poor breeding success due to high rates of predation on nests and chicks, by avian and mammalian predators. In Britain badgers (Meles meles) have increased their range and abundance, and can occur at high densities, with potential for acute local predation impacts on vulnerable wader populations. However, factors affecting rates of badger predations on wader nests remain unexplored. Using data from six years of lapwing nest monitoring at a key breeding site in North-East Scotland, we aimed to identify the factors associated with badger nest predation. The overall probability of badger predation was above 0.1 when mean daily temperature was below 4 °C in the 7 days before a nest’s completion, dropping close to zero when above 10 °C. Predation on lapwing clutches also increased with earthworm availability, and inter-annual effects were observed matching variations in temperature, whereby intense badger predation in 2021 coincided with unseasonably cold temperatures. This highlights the potential for weather forecasting to be used to deploy pre-emptive management strategies to mitigate badger predation impacts on lapwing nests.

The First Reported 25 cm Adult Pulmonary LipoblastomaYu-Han Chen1, Alain Cagaanan2, Natasha Rastogi1, Christos Stavropoulos2,1 Department of Internal Medicine, Englewood Hospital and Medical Center, Englewood, NJ, USA2 Department of Pathology, Englewood Hospital and Medical Center, Englewood, NJ, USA3 Department of Thoracic Surgery, Englewood Hospital and Medical Center, Englewood, NJ, USA

IntroductionThe transgender and gender diverse population continues to rise as society shifts towards increased awareness and acceptance, with an estimated 2.6 million adults identifying as transgender in the United States [1]. Population growth and improved financial accessibility to healthcare has led to an increase in chest masculinization surgery, or gender-affirming mastectomy (GAM) [2]. GAM differs from risk-reduction, or prophylactic, mastectomy in that more breast tissue is left in-situ to create a natural-appearing chest contour. This is compared to prophylactic mastectomy which removes nearly all breast tissue for maximum oncologic risk reduction. This difference complicates breast cancer risk assessment in the post-GAM population [2]. Breast cancer risk in cisgender women is well-defined at 1 in 8 or 12.5% risk over a lifetime, however this is less clear in transgender patients due to confounding factors such as testosterone therapy or previous oophorectomy [3]. It has been theorized that after GAM transmale patients are at lower risk of breast cancer than cisgender women, yet higher risk than cisgender men [2-4]. No standardized preoperative screening guidelines prior to GAM currently exist, however strong family history and need for breast imaging should be assessed in this setting. Risk factors such as inherited genetic mutations have specific implications for this population as they are less likely to undergo cancer screening or participate in long-term follow up [4]. Approximately 5-10% of breast cancers are thought to be associated with inherited genetic mutations, BRCA being most common [5]. Risk reducing mastectomy is often offered to these patients, decreasing breast cancer risk by 90-95%[4,5]. Here we present a transgender male patient with the BRCA1 mutation. Rather than standard GAM, he underwent prophylactic bilateral mastectomy followed by chest masculinization with liposuction and free nipple grafts, as well as concurrent oophorectomy for gynecologic risk reduction. Here we highlight the nuanced problem that post-GAM patients have a higher, more variable risk of breast cancer compared to cisgender men and likely postmastectomy cisgender women. We demonstrate that appropriate risk reduction and desired cosmetic outcome can be achieved concurrently. The following case in presented accordance with the CARE reporting checklist.Case Presentation The patient is a 32-year-old transgender male who presented for surgical consultation regarding prophylactic mastectomy in the setting of a BRCA1 mutation. At the time of consultation, he had been on testosterone therapy for 7 years. Genetic testing was ordered by his endocrinologist due to a strong family history of breast, ovarian, and prostate cancers. He was referred to our high-risk screening program, breast surgical oncology, and gynecology to discuss risk reduction surgery. He had no previous breast imaging and was recommended to undergo breast MRI. This showed a 5.4 cm area of nonmass enhancement in the right breast for which biopsy was recommended, however at the time of biopsy the abnormality was no longer visualized and no tissue sample was obtained. After multidisciplinary discussion, he underwent laparoscopic hysterectomy and bilateral salpingo-oophorectomy followed by bilateral risk-reduction mastectomies. The plastic surgery team worked in conjunction with the oncological breast surgery team for markings. The double incision mastectomy approach was designed to place the scar slightly below the pectoralis major muscle. The nipples were thinned out as an oval full thickness skin graft placed on the closed chest. The nipple grafts were positioned along the lateral border of the pectoralis major muscle between the 4th and 5th ribs [6]. Suction assisted lipectomy was performed laterally and medially to optimize contour. Final pathology was without abnormality. Postoperatively he was satisfied with the aesthetic outcome (Figure 1) and plans to undergo annual chest wall exams by his primary care physician.Discussion Here we describe a transgender male patient found to have the BRCA1 mutation on preoperative evaluation for GAM. He was found to have a strong family history including breast, ovarian, and prostate cancers which prompted genetic testing. He was evaluated in a multidisciplinary setting, and ultimately underwent risk-reduction mastectomy and oophorectomy at the time of chest masculinization surgery. There has yet to be established guidelines for breast cancer screening in transgender men undergoing GAM. In general, transgender patients face many barriers in healthcare including stigmatization, psychosocial trauma associated with undergoing procedures that do not align with their gender identity, and lack of insurance coverage of procedures [7]. Disparity in healthcare for this population is especially prevalent in preventative care. When compared to cisgender individuals, transgender patients are less likely to be offered recommended cancer screening, which is reflected by suboptimal cancer outcomes in this population [1,7]. A recent single arm pilot trial published by C.S Cortina et. al highlights implications of patient education regarding individualized breast cancer risk in the preoperative setting can impact one’s decision to undergo risk reduction mastectomy as a part of gender-affirming top surgery [1]. Though rare, development of breast cancer after GAM has been described in multiple case series [7]. It is important to emphasize that GAM should not be considered equivalent to oncologic or prophylactic mastectomy due to the amount of breast tissue left behind, as the residual breast tissue imparts a theoretical future risk of breast cancer. In terms of long-term breast cancer screening, similar to postmastectomy cisgender females, physical exam is the recommended screening modality for post-GAM patients.Conclusion As the transgender population continues to grow, the role of breast cancer risk assessment prior to GAM is of particular importance. This case demonstrates the clinical utility for formalized, individualized preoperative screening to better identify patients who would benefit from oncologic risk-reduction at the time of gender-affirming chest masculinization. As exemplified here, formal guidelines for breast cancer risk assessment in patients pursuing GAM could mitigate lifetime risk of breast cancer development in the transgender and gender diverse population. A limitation of this case report includes discussion about a relatively small patient population, however with profound population growth the question of breast cancer risk in this group has become relevant in genetics, surgical oncology, and plastics. More work is needed to develop and implement formal guidelines to assess long term outcomes.Bailey N. Johnson:  Conceptualization; writing – original draft.Ivan Hadad:  Writing – review and editing.Aladdin H. Hassanein:  Conceptualization; writing – review and editing.Carla S. Fisher:  Conceptualization; writing – review and editing.

Key Clinical Message:In cases of pituitary lesions with elevated TSH, a comprehensive diagnostic approach that includes biochemical, clinical, and radiological assessment is essential. Not all pituitary masses are adenomas. Pituitary hyperplasia secondary to primary hypothyroidism can mimic adenomas, particularly prolactinomas, due to associated hyperprolactinemia. Thyroxine replacement therapy often reduces pituitary hyperplasia, making hormonal profiling essential to avoid unnecessary surgical interventions. Patient compliance with hormone therapy is also a key factor, as non-compliance can lead to persistent symptoms and impact outcomes. Early specialist involvement and a multidisciplinary approach are beneficial in these complex cases to ensure accurate diagnosis and timely intervention.Introduction :The pituitary gland, often called the ”master gland” of the body, regulates numerous essential functions by releasing various hormones. Structurally, the gland is divided into an anterior and a posterior lobe. The anterior lobe produces several vital hormones, including human growth hormone (HGH or GH), thyroid-stimulating hormone (TSH), adrenocorticotropic hormone (ACTH), follicle-stimulating hormone (FSH), luteinizing hormone (LH), and prolactin. The posterior lobe produces oxytocin and antidiuretic hormone (ADH). The hypothalamus controls all these hormones, which regulate their release through specific signaling chemicals.Pituitary adenomas, or benign tumors of the pituitary gland, can be classified by size—macroadenomas are more significant than 10 mm, while microadenomas are smaller. They are also categorized as either secreting or non-secreting, depending on whether they actively release hormones. The most common secreting adenoma is prolactinoma, which overproduces prolactin (1). Pituitary hyperplasia, on the other hand, involves the overgrowth of pituitary cells and may affect either specific hormone-producing cells or the entire gland. Both adenomas and hyperplasia can present as a pituitary mass on imaging, which can complicate diagnosis.In primary hypothyroidism, inadequate thyroid hormone production can result in elevated TSH levels and pituitary hyperplasia due to loss of negative feedback in the hypothalamic-pituitary-thyroid axis. Studies indicate that 25-81% of hypothyroid patients present with pituitary hyperplasia (2). Additionally, thyroid-stimulating hormone (TSH)-secreting adenomas, or TSHomas, are rare, accounting for only 0.5% to 3% of all pituitary tumors (3). These tumors are typically characterized by elevated levels of free thyroid hormones (FT4 and FT3) in the presence of non-suppressed TSH, often presenting clinically with symptoms of hyperthyroidism (4). Differentiating between TSHomas, thyroid hormone resistance, and other causes of elevated TSH can be challenging.This case series presents three patients with elevated TSH and pituitary lesions, each with a unique clinical outcome and treatment pathway. Although their initial symptoms were similar varying diagnoses led to distinct management strategies. This series highlights the diverse presentations of pituitary lesions with elevated TSH and underscores the importance of systematic evaluation to avoid misdiagnosis and unnecessary surgical interventions.

Introduction:Diaphragmatic hernia is a significant medical condition that involves the creation of a passage between the chest and the stomach, allowing organs to move into the other cavity and potentially leading to serious complications.[1] The condition can be either congenital, with Bochdalek hernia being the most common type, or acquired, often as a result of blunt trauma, particularly on the left side due to the protection provided by the liver in the right side.[1, 2, 3] Symptoms of diaphragmatic hernia can vary widely, ranging from asymptomatic to gastrointestinal (such as strangulation) or thoracic symptoms (such as severe respiratory issues).[1, 3] X-ray and computed tomography (CT) scan are the most effective diagnostic tools for this condition.[1] Surgery is the preferred treatment for diaphragmatic hernia, although laparoscopic repair is now considered safer and associated with fewer complications.[1]

TITLE: Pyopneumopericarditis secondary to entero-pericardial fistula: A rare etiology of dyspneaAUTHORS: Shaun M. Condon II 1, Jacob E. Tuttle 1, Jo-Ann Rammal 1, Tyler Andrews DO 2, Connor M. Bunch MD1,2, Saadeddine Haidar MD 1, Joseph B. Miller, MD 1,2

Over the past decade, significant advancements in computer vision have been made, primarily driven by deep learning-based algorithms for object detection. However, these models often require large amounts of labeled data, leading to performance degradation when applied to tasks with limited datasets, particularly in scenarios involving moving objects. For instance, real-time detection and detection of humans in agricultural settings pose challenges that demand sophisticated vision algorithms. To address this issue, we propose SB-YOLO-V8, an optimized YOLO-based Convolutional Neural Network (CNN) designed specifically for real-time human detection in citrus farms. The proposed model is trained using images and videos of human workers captured by autonomous farm equipment. The preprocessing stage involves employing data augmentation techniques and Synthetic Minority Over-sampling Technique (SMOTE) to enhance object detection performance and prevent overfitting. SB-YOLO-V8 incorporates Binary ALO optimization for improved feature extraction, enabling high-quality data extraction for classification purposes. The architecture comprises both the YOLO-based CNN and an aggregator module for classification and feedback, respectively. Evaluation metrics, including frame per second (FPS), model performance, and efficiency, demonstrate the proposed model outperforms variances of YOLO such as YOLO-V8, YOLO-V7, YOLO-V6, YOLO-V4 and YOLO-V3 with an average FPS of 13.63 and a precision of 91%. In effect, the proposed SB-YOLO-V8 presents an efficient solution for real time human detection in challenging visual scenarios.

The novelty of this research is surveying the effects of CuO nanoparticles in jeffery-hamel flow with the high levelized of magnetic field in converging and diverging channels using quasi-linearization method (QLM) and also the meshless method which based on radial basis functions. In order to evaluate the convergence analysis of the method, error estimations are made by a residual function denoted. Also, the ability of the present method is shown by comparing it with the numerical method to solve this problem, which is in good agreement. Effects of multivariable parameters is analyzed on magnetic field, nanoparticles volume fraction and angle of converging and diverging channels. The obtained results show that at angles or Reynolds number of greater in divergent channels, backflow occurs so the high levelized of magnetic field is eliminated this phenomenon. Increasing viscous force is due to velocity reduction close to the walls of converging and diverging channels.

A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

Abstract: Grey zone lymphoma (GZL) is a rare subtype of B-cell lymphoma characterized by features of both classical Hodgkin lymphoma and non-Hodgkin lymphoma, often co-expressing B-cell lineage markers such as CD20 and CD19 alongside Hodgkin markers like CD15 and CD30. Clinically, GZL typically presents as a mediastinal mass associated with superior vena cava (SVC) syndrome and demonstrates relative resistance to standard chemotherapy regimens. GZL can arise from either thymic or non-thymic sources, with molecular assessments revealing overactivation of the NF-κB pathway in thymic-origin cases, while non-thymic cases exhibit defective apoptosis, primarily through mutations in TP53, BCL2, and BIRC6. Therapeutic strategies for GZL encompass anthracycline-based chemotherapy, targeted therapies like Brentuximab and Nivolumab, and salvage hematopoietic stem cell transplantation (HSCT) or radiotherapy (RT) for refractory cases. This article will delve into the clinical presentation, precise pathogenesis of GZL for our patient with combined defect in apoptotic pathway and overactivation of NF-K pathway, emphasize in the existing gaps in treatment options and the challenges faced in outpatient management.

A document by Ahmad Berjawi. Click on the document to view its contents.

Effectiveness of a single functional neurology intervention on primitive reflex integration dysfunction on children .

Ferroptosis is a recently discovered iron-dependent form of programmed cell death, characterized by the accumulation of lipid peroxidation. Latency-associated nuclear antigen (LANA) plays a crucial role in ensuring the survival and proliferation of cells infected with Kaposi’s sarcoma-associated herpesvirus (KSHV). In this study, we investigated the effects of LANA on ferroptosis. Surprisingly, we discovered that LANA promotes ferroptosis, with its downregulation diminishing and upregulation enhancing this process. LANA itself did not alter intracellular reactive oxygen species (ROS) levels; it modulated ROS levels in response to ferroptosis inducers. Cells with reduced LANA levels exhibited significantly elevated ROS levels, whereas cells overexpressing LANA showed lower ROS levels. LANA suppressed the expression of genes crucial for ferroptosis resistance, such as glutathione peroxidase 4 (GPX4) and ferroptosis suppressor protein 1 (FSP1). Additionally, LANA inhibited nuclear factor erythroid 2-related factor 2 (Nrf2) expression, impeding its nuclear translocation, while upregulating the expression of mouse-double minute 2 (MDM2). Inhibitors targeting Nrf2 and MDM2 partially negated the effects of LANA knockdown and overexpression, respectively, on ferroptosis. These findings suggested that LANA promotes ferroptosis and implyed that inducing ferroptosis may represent a new therapeutic strategy in treating KSHV-related tumors.

A document by Shuqi Yang. Click on the document to view its contents.