Mechanism of female CHH caused by compound heterozygous mutations in the LHB gene.

Background: Luteinizing hormone (LH) plays a crucial role in the postnatal development and maturation of gonads. Inactivating mutations of the luteinizing hormone beta subunit (LHB)gene are extremely rare and can result in congenital hypogonadotropic hypogonadism (CHH).

Methods: We conducted DNA sequencing on an 18-year-old female patient with undetectable LH and clinical symptoms of CHH.

Integrating D-Dimer Thresholds into the Revised Caprini Risk Stratification to Predict Deep Vein Thrombosis Risk in Preoperative Knee Osteoarthritis Patients.

Introduction: Preoperative patients with knee osteoarthritis have a significantly increased risk of venous thromboembolism (VTE). While the Caprini risk assessment model offers some clinical guidance in predicting deep vein thrombosis (DVT), it has a relatively low predictive accuracy. Enhancing the model by integrating biomarkers, such as D-dimers, can potentially improve its accuracy.

Navigating the landscape of neoadjuvant immunotherapy for NSCLC: progress and controversies.

Recently, attention has increasingly centered on non-small-cell lung cancer (NSCLC) with immune checkpoint inhibitors application. Numerous clinical studies have underscored the potential of immunotherapy in treating resectable NSCLC, highlighting its role in improving patient outcomes. However, despite these promising results, there is ongoing debate regarding the efficacy of immunological combination therapy strategies, the prevalence of treatment-related side effects, the identification of predictive biomarkers, and various other challenges within the neoadjuvant context.

How Accurately Does Bone Mineral Density Predict Bone Strength? A Clinical Observational Study of Osteoporosis Vertebral Compression Fractures in Postmenopausal Women.

Objectives: Dual energy x-ray absorptiometry (DXA) provides incomplete information about bone strength. There are few data on the relationship between osteoporosis-related examinations and bone strength. The objective of the present study was to determine which osteoporosis-related examinations best predicted trabecular bone strength, and to enhance a formula for predicting bone strength on the basis of bone density examination.

Vitamin D receptor regulates methyltransferase like 14 to mitigate colitis-associated colorectal cancer.

Colitis-associated colorectal cancer (CAC), a serious complication of ulcerative colitis (UC), is associated with a poor prognosis. The vitamin D receptor (VDR) is recognized for its protective role in UC and CAC through the maintenance of intestinal barrier integrity and the regulation of inflammation. This study demonstrates a significant reduction in mA-related genes, particularly methyltransferase like 14 (METTL14), in UC and CAC patients and identifies an association between METTL14 and VDR.

The role of preoperative serum thyroglobulin in the diagnosis and treatment of differentiated thyroid cancer: a systematic review and meta-analysis.

Background: Serum thyroglobulin (Tg) is a critical marker for monitoring tumor recurrence and metastasis in patients who have undergone total thyroidectomy for differentiated thyroid cancer (DTC). While the definitive role of preoperative serum Tg in DTC is not yet established, studies suggest its importance in differentiating between benign and malignant thyroid nodules with indeterminate cytology, as well as in predicting distant metastasis (DM) in patients with DTC.

Methods: A thorough literature review was conducted on the use of preoperative serum Tg in differentiating between benign and malignant thyroid nodules, and in evaluating the extent of DTC lesions.

Diagnostic and Predictive Recurrence Value of Plasma Fibrinogen in Patients With Adrenocortical Carcinoma.

Background: The correlation between fibrinogen levels and adrenocortical carcinoma (ACC) remains unclear. This study aimed to explore the value of preoperative plasma fibrinogen as a biomarker for ACC.

Methods: We identified 40 patients with ACC and 170 patients with adrenal adenoma (AA) who underwent surgery at our institution between 2015 and 2022.

Protocol for evaluating physiological and psychological acclimatization mechanisms in Tibetan plateau environment: a clinical study of doctors from Peking Union Medical College Hospital.

Introduction: The transition from low to high altitude environments is associated with a multifaceted series of physiological and psychological alterations that manifest over time. These changes are intricately intertwined, with physiological acclimatization primarily mediated through the regulation of hypoxia-inducible factor (HIF), which orchestrates the expression of critical molecules and hormones. This process extends to encompass the epigenome, metabolism, and other regulatory mechanisms.

An Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Method for the Determination of Deoxycholic Acid and Application to a Pharmacokinetic Study in Human Plasma.

Deoxycholic acid (DCA) injection is applied in treating moderate to severe submental bulge or facial fullness caused by excessive submental fat accumulation. Using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) technology, which was swiftly, precisely, and reliably confirmed, DCA was determined in human plasma with low quantification limits of 56 ng/mL. We selected six healthy individual blank human plasma with low concentrations of endogenous DCA and mixed them to prepare standard curve samples.

High resolution chest computed tomography responses for a cohort of adult with pulmonary Langerhans cell histiocytosis.

Langerhans cell histiocytosis (LCH) is a heterogeneous histiocytosis with various pulmonary manifestations and imaging. We aim to evaluate the pulmonary response of LCH by high resolution chest computed tomography (HRCT) through continuous follow-up.We conducted a retrospective analysis of 73 adult LCH patients with pulmonary involvement.

Extracranial and nonvaginal extragonadal malignant germ cell tumors: 12 cases at a Chinese institution over the last 38 years.

Purpose: To provide a comprehensive understanding and propose a strategy for the management of extragonadal malignant germ cell tumors (EMGCTs) arising from extracranial and nonvaginal sites.

Methods: We retrospectively reviewed the cases of 12 patients with EMGCTs arising from extracranial and nonvaginal sites treated in our center over the past 38 years. Data on clinicopathological characteristics, treatment modalities, and follow-up information were analyzed.

Neuro-Behçet's disease: an update of clinical diagnosis, biomarkers, and immunopathogenesis.

Neuro-Behçet's disease (NBD) is a more severe but rare symptom of Behçet's disease, which is mainly divided into parenchymal NBD (p-NBD) involving brain stem, spinal cord, and cerebral cortex. Non-p-NBD manifests as intracranial aneurysm, cerebral venous thrombosis, peripheral nervous system injuries, and mixed parenchymal and non-parenchymal disease. p-NBD is pathologically characterized by perivasculitis presenting with cerebrospinal fluid (CSF) pleocytosis, elevated total protein, and central nervous system (CNS) infiltration of macrophages and neutrophils, which are subdivided into acute and chronic progressive stages according to relapsing-remitting courses and responses to steroids.

Indication of frailty transitions on 2-year adverse health outcomes among older Chinese inpatients: Insight from a multicenter prospective cohort study.

Introduction: Frailty is thought to be associated with an increased risk of adverse health outcomes such as death and falls, but comparatively little is known about the impact of frailty transitions on the adverse health outcomes. Moreover, owing to insufficient sample size or a single-center study design, previous studies have not been sufficiently representative of elderly inpatients in China. This study aimed to provide estimates at the population level of the association between frailty transitions and adverse outcomes among elderly inpatients following discharge.

ABO Blood Group and Risk Associated With Sepsis-Associated Thrombocytopenia: A Single-Center Retrospective Study.

Objectives: This study aimed to investigate the relationship between ABO blood group and sepsis-associated thrombocytopenia (SAT).

Design And Setting: The primary outcome was SAT within the first 72 hours of ICU admission.

Patients: The retrospective study included 9113 patients diagnosed with sepsis from January 2014 to December 2022.

Inpatient autopsy rate and associated factors in a Chinese megacity: a population-based retrospective cohort study.

Objectives: This study investigated the autopsy rate of hospital deaths in Shenzhen megacity and identified factors that may impact the decision to perform an autopsy in hospital deaths.

Design: This is a population-based retrospective cohort study.

Setting: Shenzhen is a megacity in China with a population of more than 17 million and a total of 151 hospitals.

A novel human specific lncRNA MEK6-AS1 regulates adipogenesis and fatty acid biosynthesis by stabilizing MEK6 mRNA.

Background: Obesity is becoming one of the major non-communicable diseases with increasing incidence and risks that cannot be ignored. However effective and safe clinical treatment strategies still need to be deeply explored. Increased number and volume of adipocytes lead to overweight and obesity.

Progression and mortality of patients with cystic fibrosis in China.

Background: Patients with cystic fibrosis (CF) are rare in China and differ significantly from the Caucasian populations in terms of clinical and genetic characteristics. However, the progression and mortality of Chinese patients with CF have not been well described.

Results: This study included all 67 patients from the Peking Union Medical College Hospital CF cohort, with a median followed up time of 5.

Bullous pemphigoid and hypercoagulability: a review.

Introduction: Bullous pemphigoid (BP) is an autoimmune blistering disease characterized by autoantibodies against hemidesmosomal proteins on basal membrane zone. The presence of a high incidence of thrombotic events has led to the identification of a hypercoagulable state in BP patients.

Area Covers: This review highlights the interactions between coagulation and immune-inflammatory responses based on the current literature available, as well as individual changes of characteristic coagulation parameters in BP.

Risk Prediction and Management for Central Nervous System Infection After Resection for Gliomas-The 8-Year Experience from a Tertiary Medical Center.

: To identify risk factors for central nervous system infection (CNSI) following glioma resection and develop a predictive model. : Retrospective analysis of 435 glioma resection cases was conducted to assess CNSI risk factors. A nomogram predictive model was constructed and validated internally and externally.

Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.

Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.

Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.

Effects of different antiplatelet therapy drugs on platelet activation and platelet-leukocyte aggregate formation in early septic ARDS.

Background: In patients with sepsis, platelets are activated and adhere to neutrophils, forming platelet-leukocyte aggregates (PLAs) that lead to the development of MODS. ARDS is one of the main manifestations of septic MODS. We designed this study to explore the effects of different anti-plate therapy drugs on platelet activation and platelet-leukocyte aggregate (PLA) formation in the early stage of septic ARDS.

Glecirasib in KRAS-mutated nonsmall-cell lung cancer: a phase 2b trial.

Glecirasib (JAB-21822) is a new covalent oral KRAS-G12C inhibitor. This multicenter, single-arm phase 2b study assessed the efficacy and safety of glecirasib administered orally at 800 mg daily in patients with locally advanced or metastatic KRAS-mutated nonsmall-cell lung cancer. The primary endpoint was the objective response rate (ORR) assessed by an independent review committee (IRC).

Neoadjuvant chemoradiation with or without PD-1 blockade in locally advanced rectal cancer: a randomized phase 2 trial.

Radiotherapy displays unique antitumor synergism with immune checkpoint inhibitors, which is indicated by high pathological complete response (pCR) rates from single-arm trials of locally advanced rectal cancer (LARC). Here we test the efficacy and safety of the radiation-immune checkpoint inhibitor combination in patients with LARC in a phase 2, randomized trial conducted in eight major colorectal cancer centers in Beijing. In total, 186 eligible all-comer (proficient mismatch repair and deficient mismatch repair) participants were enrolled.

[Characteristics of RET gene rearrangement detected by fluorescence in situ hybridization in lung cancer].

To investigate the characteristics of RET gene rearrangement revealed by fluorescence in situ hybridization (FISH) in lung cancer. A total of 616 formalin-fixed paraffin-embedded surgical samples from lung adenocarcinomas with wild-type EGFR gene and no ALK protein expression by immunohistochemistry obtained at Peking Union Medical College Hospital, Beijing, China between December 2019 and April 2022 were included. Thirty-three tumors with RET gene rearrangement determined by imbalanced-based reverse-transcription droplet digital PCR (RT-ddPCR) were analyzed using break-apart FISH.