Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case.

18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly between patients and may overlap with other genetic conditions. Its prenatal description is extremely rare as the fetal phenotype is often not present during pregnancy.

A multicenter clinical AI system study for detection and diagnosis of focal liver lesions.

Early and accurate diagnosis of focal liver lesions is crucial for effective treatment and prognosis. We developed and validated a fully automated diagnostic system named Liver Artificial Intelligence Diagnosis System (LiAIDS) based on a diverse sample of 12,610 patients from 18 hospitals, both retrospectively and prospectively. In this study, LiAIDS achieved an F1-score of 0.

Low-dose interleukin-2 treatment increases the proportion of regulatory T cells in patients with rheumatic diseases: A meta-analysis.

Background: It is now accepted that immune tolerance disorders caused by inadequate Treg cell function or number are important factors in the development and progression of rheumatic diseases. There is increasing evidence that ld IL-2 treatment increases the proportion of Treg cells in patients' peripheral blood, but this conclusion is still controversial. Here, we performed a meta-analysis of reports documenting the proportion of Treg cells and the rate of adverse events in patients with rheumatic disease before and after the administration of ld IL-2 to better understand its effect and safety on Treg cells in the field of rheumatic diseases.

Extramedullary haematopoiesis presenting as an adnexal mass in a patient with β-thalassaemia.

Solid masses of the ovaries raise the suspicion of malignancy or metastasis and require histological diagnosis. Extramedullary haematopoesis (EMH) is a rare histological finding of a mass of the adnexa. The sonographic pattern of EMH has rarely been described in the literature.

TSC2 Interacts with HDLBP/Vigilin and Regulates Stress Granule Formation.

Tuberous sclerosis complex (TSC) is caused by mutations of either the or tumor suppressor gene. TSC causes tumors of the brain, heart, kidney, skin and lymphangioleiomyomatosis (LAM). Here we report that the TSC2 protein physically binds to high-density lipoprotein binding protein (HDLBP), also called vigilin, a core stress granule (SG) protein, and that TSC2 localizes to SGs.

Genomic Characterization of Metastatic Breast Cancer.

Purpose: In contrast to recurrence after initial diagnosis of stage I-III breast cancer [recurrent metastatic breast cancer (rMBC)], metastatic breast cancer (dnMBC) represents a unique setting to elucidate metastatic drivers in the absence of treatment selection. We present the genomic landscape of dnMBC and association with overall survival (OS).

Experimental Design: Targeted DNA sequencing (OncoPanel) was prospectively performed on either primary or metastatic tumors from 926 patients (212 dnMBC and 714 rMBC).

Enhanced Efficacy of Simultaneous PD-1 and PD-L1 Immune Checkpoint Blockade in High-Grade Serous Ovarian Cancer.

Immune therapies have had limited efficacy in high-grade serous ovarian cancer (HGSC), as the cellular targets and mechanism(s) of action of these agents in HGSC are unknown. Here we performed immune functional and single-cell RNA sequencing transcriptional profiling on novel HGSC organoid/immune cell co-cultures treated with a unique bispecific anti-programmed cell death protein 1 (PD-1)/programmed death-ligand 1 (PD-L1) antibody compared with monospecific anti-PD-1 or anti-PD-L1 controls. Comparing the functions of these agents across all immune cell types in real time identified key immune checkpoint blockade (ICB) targets that have eluded currently available monospecific therapies.

Acute myeloid leukemia after kidney transplantation: a case report and literature review.

The incidence of malignancy is greater in kidney transplant recipients compared to the general population, though the higher risk is not equally distributed to all types of cancers. In face of the increased longevity of renal transplant recipients, certain cancers, such as acute leukemias, are becoming more prevalent. Acute myeloid leukemia (AML) typically presents with cytopenias and infections, both common findings after kidney transplantation.

Management of Patellofemoral Arthritis: From Cartilage Restoration to Arthroplasty.

The management of patellofemoral cartilage lesions is controversial and should begin with a comprehensive nonsurgical treatment plan. Patients with patellofemoral cartilage lesions in whom nonsurgical treatment fails may be candidates for surgical treatment. Surgical treatment strategies for the management of patellofemoral cartilage lesions are guided by the size, quality, and location of the defect.

Cost-effectiveness of multiplexed predictive biomarker screening in non-small-cell lung cancer.

Introduction: Population-wide screening for epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) gene rearrangements to inform cancer therapy in non-small-cell lung cancer (NSCLC) is recommended by guidelines. We estimated cost-effectiveness of multiplexed predictive biomarker screening in metastatic NSCLC from a societal perspective in the United States.

Methods: We constructed a microsimulation model to compare the life expectancy and costs of multiplexed testing and molecularly guided therapy versus treatment with cisplatin-pemetrexed (CisPem).

Correlation of sperm DNA damage with IVF and ICSI outcomes: a systematic review and meta-analysis.

Purpose: To assess the effects of sperm DNA damage, as determined by the TUNEL assay and the SCSA respectively, on the outcomes of IVF/ICSI treatment.

Methods: A Medline search (from Jan 1978 to Apr 2006) was performed, together with a manual search of the bibliographies of retrieved original papers and review articles. 8 articles met all inclusion/exclusion criteria, of which, 5 used the TUNEL assay and the other 3 used the SCSA.

DuraSeal magnetic resonance and computed tomography imaging: evaluation in a canine craniotomy model.

Objective: Several novel sealing materials have been proposed as an adjunct to sutured dural closure to help insure watertight closure, thus diminishing the risk of pseudomeningocele formation. This evaluation was undertaken to clarify the in vivo magnetic resonance imaging (MRI) and computed tomographic (CT) scan characteristics of one such sealant, which has a high water content, permitting similar imaging characteristics to pseudomeningoceles and inflammatory collections.

Methods: After a craniotomy in two canine subjects, we sprayed a novel, water-soluble, self-polymerizing, absorbable, hydrogel sealant onto the dura and the bone flap was replaced.

Functional magnetic resonance imaging and multiple sclerosis: the evidence for neuronal plasticity.

Blood oxygen level-dependent (BOLD) functional magnetic resonance imaging (fMRI) has emerged as a powerful technique to visualize the localization of cerebral activity in both healthy and diseased brains. BOLD fMRI has been used to assess brain function in a variety of diseases, including multiple sclerosis (MS), and has shown that altered patterns of connectivity are used to recruit more widespread eloquent brain networks engaged in tasks relating to motor activity, sensory and cognitive function, and memory when compared to normal controls. This review will examine the evidence that functional reorganization is a consequence of demyelination and tissue loss in MS that may serve as an adaptive response to limit clinical disability.

Costimulation: critical pathways in the immunologic regulation of asthma.

T cells play an important role in the pathogenesis of allergy and asthma. T-cell receptor engagement by antigenic peptides presented to major histocompatibility complex (MHC) class II molecules and activation of costimulatory molecules are crucial in the regulation of T-cell immune responses. Costimulatory molecules are responsible for second signals that induce T-cell activation and proliferation.

Cerebellar infarction as a cause of post-partum headache.

A 32-year-old multiparous patient requested epidural analgesia during labour. The epidural was sited, apparently without complication, but the patient proceeded to an emergency caesarean section due to fetal distress, shortly after the insertion. The severity of the fetal distress meant that surgery was necessary before the epidural could be extended sufficiently and a general anaesthetic was administered.

Historical vignette: The radium bomb: Harvey Cushing and the interstitial irradiation of gliomas.

Harvey Cushing performed over 2000 operations on patients with brain tumors, including 832 for gliomas. He implanted radioactive radium needles, known as a "radium bomb," in a small number of these patients. He was not impressed with the results and did not pursue this method of treatment in a serious way.

Current Issues in the Staging of Esophageal Cancer.

Staging technology and the 1983 international staging system for esophageal cancer have changed. The 1988 system is based on depth of wall penetration and regional lymph node involvement; it abandons the previous criteria of tumor length and degree of obstruction. The clinical reasoning behind this change is reviewed.