First Reported Case of Hemoglobin H Disease Caused by the Rare α-Globin Gene Mutation ( c.244delT) in a Chinese Family.

Microcytosis of red cells and mild anemia are common in thalassemia carriers but those phenotypes are not specific. It is really a challenge for clinical interpretation of those variants. Co-segregation with disease in affected family members or specific phenotypes such as the abnormal Hb H are very helpful to assess the pathogenicity of rare variants.

[Analysis of temporomandibular joint imaging and orthodontic effect in patients with introverted deep overbite and severe attrition].

Purpose: To investigate the functional and structural characteristics of temporomandibular joint(TMJ) in introverted deep overbite patients with severe wear, to analyze the correlation between the vertical distance of the lower 1/3 of the face and TMJ space, and to compare the clinical efficacy of multidisciplinary treatment with orthodontics and prosthodontics on TMJ function.

Methods: Eighty patients with deep overbite and severe abrasion and forty subjects with normal occlusion admitted to our hospital from January 2019 to June 2023 were enrolled in this study. The clinical data were collected and the functional and structural characteristics of TMJ were collected.

[Improvement of the mastication function of orthodontics combined with restoration in the treatment of deep overbite with severe lower anterior teeth attrition].

Purpose: To observe the effect of orthodontics combined with restoration on masticatory function in deep overbite patients with severe lower anterior teeth attrition.

Methods: From January 2018 to January 2022, a total of 164 deep overbite patients with severe lower anterior teeth attrition were collected and divided into two groups according to different treatment plans: control group(72 patients, with restoration treatment) and experimental group(92 patients, with orthodontics combined with restoration treatment). The chewing efficiency of the two groups was evaluated, temporomandibular joint dysfunction index (DI), muscle palpation index (PI) and cranio-mandibular index (CMI) were calculated.

Clinical characteristics of membranous nephropathy after allogeneic hematopoietic stem cell transplantation: A real-world multicenter study.

Membranous nephropathy (MN) is a rare complication that can occur after allogeneic hematopoietic stem cell transplantation (allo-HSCT). MN patients may develop nephrotic syndrome or even kidney failure, which greatly affects their quality of life and prognosis. However, current knowledge regarding MN after allo-HSCT is limited.

[Clinical study of the effect of combined orthodontic and restoration treatment for introverted deep overbite patients with severe wear].

Purpose: To investigate the effectiveness of combined orthodontic and restoration treatment for introverted deep overbite patients with severe wear.

Methods: A total of 86 introverted deep overbite patients with severe wear admitted to Cangzhou People's Hospital from December 2020 to June 2022 were collected and divided into the control group and the experimental group by gender, age, degree of wear and tear, with 43 cases in each group. The control group received orthodontic treatment, while the experimental group received combined orthodontic and restoration treatment.

Factors influencing the mental health status of support nurses and their workload during the COVID-19 epidemic.

Objectives: The authors used the (NASA-TLX) and general health questionnaire to analyze the factors influencing the mental health status and the workload of support nurses during the COVID-19 epidemic.

Material And Methods: The authors conducted a cross-sectional survey of 349 support nurses in April-October 2022. Using QuestionStar, a powerful online survey tool, the authors administered surveys to the participants, collected data on the mental health status and workload of support nurses, and analyzed the influencing factors based on the collected data.

Chlorin e6-modified iron oxide nanoparticles for photothermal-photodynamic ablation of glioblastoma cells.

The effective treatment of glioblastoma still remains a great challenge. We herein report the development of chlorin e6 (Ce6)-conjugated iron oxide (FeO-Ce6) nanoparticles for ablation of glioblastoma cells via combining photothermal therapy (PTT) with photodynamic therapy (PDT). Ce6 was conjugated to the synthesized FeO nanoparticles to form FeO-Ce6 nanoparticles displaying the optical property of Ce6.

Impact of a novel prognostic model on allogeneic hematopoietic stem cell transplantation outcomes in patients with CMML.

Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell malignancy, and allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only curable treatment. The outcomes after transplant are influenced by both disease characteristics and patient comorbidities. To develop a novel prognostic model to predict the post-transplant survival of CMML patients, we identified risk factors by applying univariable and multivariable Cox proportional hazards regression to a derivation cohort.

Real-world evidence of osimertinib in Chinese patients with EGFR T790M-positive non-small cell lung cancer: a subgroup analysis from ASTRIS study.

Purpose: ASTRIS study aimed the largest to evaluate the effectiveness and safety of second- or higher-line osimertinib in patients with advanced/metastatic epidermal growth factor receptor (EGFR) T790M mutation-positive non-small cell lung cancer (NSCLC) in the real-world setting. Here we report the results of Chinese patients in ASTRIS study.

Methods: Adults with EGFR T790M-positive advanced NSCLC pretreated with EGFR-tyrosine kinase inhibitor (EGFR-TKI), having a WHO performance status score of 0-2 and asymptomatic, stable central nervous system (CNS) metastases were included.

False positive detection of serum cryptococcal antigens due to insufficient sample dilution: A case series.

Unlabelled: At present, with the development of technology, the detection of cryptococcal antigen (CRAG) plays an increasingly important role in the diagnosis of cryptococcosis. However, the three major CRAG detection technologies, latex agglutination test (LA), lateral flow assay (LFA) and Enzyme-linked Immunosorbent Assay, have certain limitations. Although these techniques do not often lead to false-positive results, once this result occurs in a particular group of patients (such as human immunodeficiency virus patients), it might lead to severe consequences.

Adherence to the Dietary Approaches to Stop Hypertension diet reduces the risk of breast cancer: A systematic review and meta-analysis.

Background: Despite increasing evidence for the association of adherence to the Dietary approaches to stop hypertension (DASH) diet with breast cancer risk, the results remain inconclusive. The purpose of the current systematic review was to summarize the evidence from previous observational studies and explore the potential association between DASH diet and breast cancer risk using meta-analysis.

Methods: A comprehensive literature search was conducted using the databases of PubMed, Web of Science, CNKI and Wanfang Data to identify the relevant publications from inception up to July 2022.

Application of continuous nursing care based on hierarchical diagnosis and treatment mode in Stage II cardiac rehabilitation of patients after percutaneous coronary intervention.

Objective: To explore the effect of applying continuous nursing care based on hierarchical diagnosis and treatment in Stage II cardiac rehabilitation of patients after percutaneous coronary intervention (PCI) and provide a theoretical basis for clinical nursing intervention.

Methods: Patients in PCI postoperative II cardiac rehabilitation were selected and randomly divided into the experimental group (community group), the experimental group (rehabilitation group), and the control group. Patients in the control group received the routine cardiac rehabilitation management scheme, while those in the experimental groups received continuous nursing protocol based on the hierarchical diagnosis and treatment mode.

High accuracy of single-molecule real-time sequencing in detecting a rare α-globin fusion gene in carrier screening population.

Introduction: The α-globin fusion gene between the HBA2 and HBAP1 genes becomes clinically important in thalassemia screening because this fusion gene can cause severe hemoglobin (Hb) H disease when combining with α -thalassemia (α -thal). Due to its uncommon rearrangement in the α gene cluster without dosage changes, this fusion gene is undetectable by common molecular testing approaches used for α-thal diagnosis.

Methods: In this study, we used the single-molecule real-time (SMRT) sequencing technique to detect this fusion gene in 23 carriers identified by next-generation sequencing (NGS) among 16,504 screened individuals.

Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing.

Gap- polymerase chain reaction (PCR), reverse dot-blot assay (RDB), real-time PCR based multicolor melting curve analysis (MMCA assay), multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing are conventional methods to diagnose thalassemia but all of them have limitations. In this study, we applied single-molecule real-time (SMRT) sequencing following multiplex long-range PCR to uncover rare mutations in nine patients and their family members. The patients with different results between Gap-PCR and MMCA assay or with phenotype not matching genotype were included.

A Combination of Serum Biomarkers in Elderly Patients with Sarcopenia: A Cross-Sectional Observational Study.

Background: The pathogenesis of sarcopenia in the elderly has not yet been fully understood. This study aimed to explore the relationship between sarcopenia and several serum biomarkers in elderly population.

Methods: It was an observational cross-sectional study of data collected from 70 patients.

Diagnosis and treatment of primary pulmonary enteric adenocarcinoma: Report of Six cases.

Background: Primary pulmonary enteric adenocarcinoma (PEAC) is a very rare subtype of invasive adenocarcinoma, and there have been no large studies on PEAC to date. Therefore, it is necessary to obtain much more information about the clinical and pathological features, diagnosis, differential diagnosis, and treatment of PEAC.

Case Summary: All clinical data of six patients with confirmed PEAC from 2013 to 2018 were collected, and data on diagnosis, differential diagnosis, and treatment of PEAC are discussed combined with all the associated literature.

The Chinese Thoracic Oncology Group (CTONG) therapeutic option scoring system: a multiple-parameter framework to assess the value of lung cancer treatment options.

Background: Currently, there is no standard context that conforms to the Chinese national framework for evaluating medical decisions regarding the treatment of lung cancer.

Methods: This draft was formulated after a systematic review and a focus group discussion among 20 experts, who were senior physicians with extensive clinical experience from the Chinese Thoracic Oncology Group (CTONG) task force. Subsequently, a draft and a five-point Likert scale were sent to 300 CTONG working group members.

Manifestation of severe pneumonia in anti-PL-7 antisynthetase syndrome and B cell lymphoma: A case report.

Background: Antisynthetase syndrome (ASS) is characterized by the presence of antisynthetase antibodies coupled with clinical findings such as fever, polymyositis-dermatomyositis and interstitial lung disease. It is, however, rare to observe ASS association with B cell lymphoma presenting severe pneumonia as the first clinical manifestation.

Case Summary: We evaluated a 59-year-old male patient who presented with cough with sputum, shortness of breath and fever for 13 d.

Bevacizumab plus erlotinib in Chinese patients with untreated, EGFR-mutated, advanced NSCLC (ARTEMIS-CTONG1509): A multicenter phase 3 study.

Dual inhibition of epidermal growth factor receptor (EGFR) and vascular endothelial growth factor (VEGF) pathways may delay therapeutic resistance in advanced non-small cell lung cancer (NSCLC). This phase 3 study investigated the efficacy and safety of an erlotinib plus bevacizumab regimen in untreated patients with advanced NSCLC. In total, 311 patients received bevacizumab plus erlotinib (n = 157) or erlotinib only (n = 154).

Hb Lepore-Hong Kong: First Report of a Novel δ/β-Globin Gene Fusion in a Chinese Family.

We describe a new δ/β fusion gene causing β-thalassemia (β-thal) trait and its formation mechanism. The proband was a 39-year-old woman who presented with persistent microcytic microcytosis without iron deficiency. Molecular diagnoses revealed a δβ configuration within a 54 bp region between the Cap site (+22) and codon 8, causing a deletion (NG_000007.