Rare germline variants in cancer-relevant genes are associated with breast cancer risk in young women with high-risk family history.

Introduction: It is incompletely understood why some women develop breast cancer 15-20 years earlier than the majority of women. We hypothesize that women with early-onset breast cancer and high-risk family history without germline pathogenic variants in cancer-predisposing genes (CPGs, n = 83) have a higher load of germline high functional impact variants (gHFI) in cancer hallmark genes (n = 1508) compared to healthy controls.

Methods: Germline whole exome sequencing data were analyzed from 5818 breast cancer cases from UKBiobank and from 94 young women with breast cancer without CPG pathogenic variants from the Yale Cancer Prevention Clinic, and compared to 149 controls from Yale GENERATIONS project and 56,917 controls from UKBiobank.

Linking orthodontic treatment and sleep apnea among adult Indian patients.

The differences in the effects of orthodontic treatment on airway and craniocervical posture in patients with OSA (obstructive sleep apnea) having skeletal class II high-angle malocclusion is of interest. Hence, 48 individuals with OSA and skeletal class II high-angle malocclusion were chosen from among all patients in need of orthodontic therapy. Every patients had CBCT (cone beam computed tomography) taken both before and after receiving orthodontic therapy.

Investigating the Association between Obstructive Sleep Apnea and Temporomandibular Joint Disorders: A Case-Control Study.

Background: This study aims to explore the connection between obstructive sleep apnea (OSA) and temporomandibular joint disorders (TMD) through a case-control investigation. OSA is a sleep-related breathing disorder that affects breathing during sleep, whereas TMD involves pain and dysfunction in the jaw joint. Understanding any potential association between these two conditions could contribute to improved diagnostic and therapeutic approaches.

Evaluation of different aesthetic indices for planning orthodontic treatment.

Three aesthetic indices namely aesthetic component of index of orthodontic treatment needs (IOTN -AC), dental aesthetic index (DAI) and dental aesthetics screening index (DESI) were compared in orthodontic treatment. 242 participants (160 female and 82 male) who were interested in orthodontic treatment participated. The individuals' ages ranged from 16-25 years.

3D assessment of alveolar bone alterations in orthodontic movement among Indians.

Apical root resorption, which is characterised as a biological or abnormal phenomenon that shortens the length of the root apex, is additional typical iatrogenic impact of orthodontic tooth movement that may jeopardise the effectiveness of treatment and tooth lifespan. The main goals of the current retrospective investigation were to assess the dimensions of alveolar bone alterations that come along with orthodontic movement and to look into the frequency and extent of resorption of root in maxillary incisors across categories that were similarly managed with clear aligners (OCA) and fixed appliances (OFA) using CBCT. The study included 50 subjects who were divided into two categories with 25 study subjects in each category.

Physics-Inspired Quantum Simulation of Resonating Valence Bond States─A Prototypical Template for a Spin-Liquid Ground State.

Spin liquids─an emergent, exotic collective phase of matter─have garnered enormous attention in recent years. While experimentally many prospective candidates have been proposed and realized, theoretically modeling real materials that display such behavior may pose serious challenges due to the inherently high correlation content of such phases. Over the last few decades, the second-quantum revolution has been the harbinger of a novel computational paradigm capable of initiating a foundational evolution in computational physics.

Effectiveness of Short-Term Lifestyle Modification on Reducing Body- Weight-Related Parameters in Persons with Severe Mental Illness: A Randomized Controlled Trial.

Background: Persons with severe mental illness (SMI) reportedly have a high mortality rate due to metabolic syndrome (MS). However, lifestyle modification (LM) offers effective management of some components of MS. This study aimed to evaluate the effectiveness of LM in reducing body-weight-related parameters in SMIs.

Neurological Adverse Effects of Immune Checkpoint Inhibitors and Chimeric Antigen Receptor T-Cell Therapy.

Immune checkpoint inhibitors (ICPIs) and chimeric antigen receptor (CAR) T-cell constitute recently approved novel therapies targeted to treat a wide number of malignancies. Both the treatments modulate the immune system and can cause a number of immune-related adverse events (irAEs), including polyendocrinopathies, gastrointestinal and neurological complications. This literature review focuses on the neurological side effects of these therapies as these are uncommon and alter the course of the treatment.

Epidemiology and Determinants of Survival for Primary Intestinal Non-Hodgkin Lymphoma: A Population-Based Study.

Background: Gastrointestinal tract is the most common site of extranodal non-Hodgkin lymphoma (EN-NHL). Most of the published data have been on gastric NHL with limited studies on primary intestinal non-Hodgkin lymphoma (PI-NHL) considering rare incidence. We performed epidemiological and survival analysis for PI-NHL from the Surveillance, Epidemiology, and End Results (SEER) 18 database.

Systems approach to enhance Lynch syndrome diagnosis through tumour testing.

Background: Guidelines recommend universal mismatch repair (MMR) tumour testing of colorectal adenocarcinomas (CRCs) to screen for Lynch syndrome (LS). However, its implementation remains disjointed and referral for genetic testing dismal, particularly among minorities. We aimed to increase referral, cancer genetic testing and eventually LS diagnosis by developing the CLEAR LS (Closed Loop Enhanced Assessment and Referral for Lynch Syndrome) intervention, a systems approach which in the second phase was automated.

Quantum machine learning for chemistry and physics.

Machine learning (ML) has emerged as a formidable force for identifying hidden but pertinent patterns within a given data set with the objective of subsequent generation of automated predictive behavior. In recent years, it is safe to conclude that ML and its close cousin, deep learning (DL), have ushered in unprecedented developments in all areas of physical sciences, especially chemistry. Not only classical variants of ML, even those trainable on near-term quantum hardwares have been developed with promising outcomes.

A Persistent Parvovirus Infection Causing Anemia in an HIV Patient Requiring Intravenous Immunoglobulin Maintenance Therapy.

Anemia is a common finding in a human immunodeficiency virus (HIV)-positive patient with a wide range of possible causes and is a significant risk factor for mortality in acquired immunodeficiency syndrome (AIDS). Opportunistic parvovirus infection-causing pure red cell aplasia is one of its uncommon causes. It has been suggested that immunocompromised patients with abnormal antibody production are more susceptible to acquiring a chronic parvovirus infection requiring long-term intravenous immunoglobulin (IVIg) treatment; however, there are no specific guidelines for it.

Survival Benefit of Pembrolizumab for Patients With Pancreatic Adenocarcinoma: A Case Series.

Pancreatic ductal adenocarcinoma (PDAC) is an aggressive malignancy with 5-year survival rate of 10%. Evidence about pembrolizumab usage for PDAC is limited even though it is Food and Drug Administration (FDA)-approved for treatment of advanced pancreatic cancer with deficient mismatch repair expression (dMMR) or high tumor mutational burden (TMB) where as there is limited evidence for programmed death-ligand 1 (PD-L1)-positive PDACs. We present three patients with different stages of advanced PDAC treated with pembrolizumab as single maintenance therapy or combination with other therapy.

Site-Specific Survival of Extra Nodal Diffuse Large B-Cell Lymphoma and Comparison With Gastrointestinal Diffuse Large B-Cell Lymphoma.

Background: Diffuse large B-cell lymphoma (DLBCL) constitutes 30% of all non-Hodgkin's lymphomas. It can present as a nodal disease or as an extra nodal disease. Based on the site of origin, extra nodal DLBCL (EN-DLBCL) may have a distinct clinical outcome.

A Trilogy of Submassive Pulmonary Embolism, Non-Small Cell Lung Cancer with Brain Metastasis, Kartagener's Syndrome and its Management with Aspiration Thrombectomy.

Unlabelled: Venous thromboembolism is a common cause of morbidity and mortality in cancer patients. Given the bleeding risks, determining treatment for malignancy-related thrombosis is challenging, especially in the case of submassive pulmonary embolism (PE) because the risk-benefit ratio in terms of bleeding risk is uncertain. Here we discuss the case of a 53-year-old man with Kartagener syndrome with situs inversus totalis and stage IV non-small cell lung cancer with a recent brain mass resection, presenting with dyspnoea and palpitations.

Dysphagia as a Rare Presentation of Cervical Cancer with Mediastinal Metastasis.

Unlabelled: Dysphagia has a broad aetiology and so it is essential to identify the precise cause. Cervical cancer metastasis is distinctive in that it usually involves local lymph node invasion; however, approximately 1% of cases have mediastinal involvement, which can cause severe compressive symptoms in rare situations. To highlight an uncommon severe manifestation of cervical cancer relapse, we describe a case of dysphagia in a woman with a history of cervical cancer.

Liquid Presenting as Solid: A Rare Presentation of Acute Myeloid Leukaemia as a Solid Epidural Mass.

Unlabelled: Myeloid sarcoma (MS) is a very rare malignant tumour composed of myeloblasts. It most commonly involves soft tissue, bone, periosteum and lymph nodes, but unusual presentation sites have also been reported. Typically, MS evolves concurrently with active leukaemia or following remission, when it is known as secondary MS.

Assessment of common risk factors and validation of the Gail model for breast cancer: A hospital-based study from Western India.

Objective: Modified Gail Model is a noninvasive, easy to implement risk estimation tool for absolute breast cancer risk. It was developed with data collected from non African American females and further modified for African-American, the Hispanic, and Native American populations. The use of this model for population outside the US and European country is not yet validated.

Feature Map Retargeting to Classify Biomedical Journal Figures.

In this work, we propose a layer to retarget feature maps in Convolutional Neural Networks (CNNs). Our "Retarget" layer densely samples values for each feature map channel at locations inferred by our proposed spatial attention regressor. Our layer increments an existing saliency-based distortion layer by replacing its convolutional components with depthwise convolutions.

A Tale of Immune-Related Adverse Events With Sequential Trials of Checkpoint Inhibitors in a Patient With Metastatic Renal Cell Carcinoma.

Immune checkpoint inhibitor (CPI) therapy is approved for the treatment of many cancers. As its use becomes more prevalent, sequential trials with different CPIs as monotherapy or combination therapy will become more common. It is thought that the increased cumulative dose of CPIs over multiple trials increases the risk of immune-related adverse events (irAEs).

Childhood acute lymphoblastic leukaemia relapse with atypical localised presentation mimicking ankle trauma in a 28-year-old man.

Acute lymphoblastic leukaemia (ALL) is a common paediatric cancer with a tendency to relapse, usually within 3 years of remission. Most patients present with hepatomegaly, splenomegaly, pallor, fever and bruising. Localised muskuloskeletal presentation is extremely rare.

Impact of lifestyle modification on some components of metabolic syndrome in persons with severe mental disorders: A meta-analysis.

Background: Metabolic syndrome (MS) is reportedly associated with high mortality from mostly cardiovascular causes in patients with severe mental disorders (SMD). Lifestyle interventions augment effective management of MS in patients with SMD. The present meta-analysis aims at updating the recent evidence on the effectiveness of lifestyle intervention for MS in patients with SMD.