Rare mutation in neurodevelopmental disorders involving hyperphagia triggering severe obesity and other complication.

encodes a nuclear protein, with functions in pre-mRNA splicing and the formation of nuclear speckles via liquid-liquid phase separation. Despite its critical role in cellular function, the association between and neurodevelopmental disorders is not well-understood. In this study, we reported a case of a patient exhibiting developmental delay, intellectual disability, delayed language development, facial dysmorphism, macrocephaly, short hands and feet, hyperphagia, and hypotonia, which are similar to the characteristics of previously reported cases of SRRM2-associated neurodevelopmental disorders.

Research on similarity retrieval method based on mass spectral entropy.

Compound identification in small molecule research relies on comparing experimental mass spectra with mass spectral databases. However, unequal data lengths often lead to inefficient and inaccurate retrieval. Moreover, the similarity calculation methods used by commercial software have limitations.

Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array.

Objective: This is a case report of a COL4A1 gene mutation which was confirmed by further genetic testing following anomalies observed in prenatal ultrasound and fetal brain magnetic resonance imaging (MRI).

Case Reports: The ultrasound examination of the patient revealed a mass in fetal left intracranial cavity. Repeated subsequent MRI detected an evolving mass in the left frontal parietal lobe.

Highly Stable Lanthanide-Organic Frameworks Based on {LnO} Clusters with Photocatalytic Reduction of CO to CO.

Metal-organic frameworks (MOFs) with adjustable structures, diverse chemical functionalities, and excellent CO capture ability have shown important potential application in the photocatalytic reduction of CO to valuable fuel to curb the energy crisis. In this work, a series of new isostructural lanthanide-organic frameworks based on hexanuclear {LnO} clusters, {(DMA) [Ln(μ-OH)(HO)(SBTC)]} (Ln-MOFs, Ln = Eu, Dy, Gd, Tb, Yb; HSBTC = 5,5'-(ethene-1,2-diyl) di-isophthalic acid; DMA = dimethylamine cation) were synthesized by the solvothermal method. Ln-MOFs were metal-organic frameworks formed by {Ln(μ-OH)} clusters and poly(carboxylic acid) ligands HSBTC, which exhibited excellent photocatalytic properties for the reduction of CO to CO.

The prognostic value of pretreatment F-FDG PET-CT parameters with peripheral blood markers in patients with de novo metastatic nasopharyngeal carcinoma.

Background And Purpose: To develop and validate a prognostic nomogram based on pretreatment F-fluorodeoxyglucose positron emission tomography/computed tomography (PET-CT)radiomics parameters and peripheral blood markers for risk stratification in patients with de novo metastatic nasopharyngeal carcinoma (dmNPC).

Materials And Methods: A total of 558 patients with dmNPC were retrospectively enrolled between 2011 and 2019. Eligible patients were randomly divided into training and validation cohorts (7:3 ratio).

[Characteristics, Sources Apportionment, and Health Risks of PM-bound PAHs and Their Derivatives Before and After Heating in Zibo City].

Atmospheric polycyclic aromatic hydrocarbons (PAHs) and their derivatives are a global problem that influences the environment and threatens human health. To investigate the characteristics, sources, and health risk assessment of PM-bound PAHs and their derivatives, PM were collected at an urban site in Zibo from November 5 to December 26, 2020, and the concentrations of 16 conventional PAHs, nine NPAHs, and five OPAHs in PM were analyzed using gas chromatography-mass spectrometry. Source apportionment of PAHs and their derivatives was conducted using diagnostic ratios and a PMF model, and the health risks of PAHs and their derivatives to adult men and women were evaluated using the source-dependent incremental lifetime cancer risk (ILCR) model.

[Quantification of Ozone Pollution Transport Based on Four-dimensional Flux Method in Foshan, China].

Quantifying the contribution of transport processes to air pollution events has been a prominent challenge and an important need in regional air pollution prevention and control. The WRF-Chem model was used to simulate a typical regional ozone (O) pollution event in Foshan, and the four-dimensional flux method was applied to quantify the transport fluxes of ozone and its precursors from the surrounding areas to Foshan and to clarify the contributions of the direct transport of ozone and transport of precursors. The average ozone flux from the surrounding areas to Foshan was 120.

Diagnostic techniques for critical respiratory infections: Update on current methods.

Respiratory infections, whether chronic or acute, are frequent in both children and adults and result in an economic burden in health care systems. In particular, for an immunocompromised patient, respiratory infection leads to acute hypoxemic respiratory failure, a leading cause of intensive care unit (ICU) admission. Most respiratory infections are caused by bacteria, viruses, parasites, smoking, or air pollution.

The clinical effect evaluation of multidisciplinary collaborative team combined with palliative care model in patients with terminal cancer: a randomised controlled study.

Objective: To evaluate the clinical effect of a multidisciplinary collaboration team combined with a palliative care model in patients with terminal cancer.

Method: A total of 84 patients diagnosed with terminal cancer in our hospital were included and randomly divided into an intervention group and a control group, with 42 cases in each group. Patients in the intervention group were treated by a multidisciplinary collaborative team combined with the palliative care model, and patients in the control group were treated by routine nursing intervention.

Probiotics for preventing gestational diabetes in overweight or obese pregnant women: A review.

Probiotics are live microorganisms that, when administered in adequate amounts, confer a health benefit to the host. Specific probiotics or probiotic foods can be used to reduce the risk of diseases associated with aberrant gut microbiota composition. The incidence of gestational diabetes mellitus (GDM) has increased annually with the proportion of overweight and obese people.

[Characterization and Formation Mechanism of Water-soluble Inorganic Ions in PM and PM in Summer in the Urban Agglomeration of the Ili River Valley].

The simultaneous observation and analysis of atmospheric particles on a regional scale is an important approach to developing control strategies for air pollution. To study the spatial distribution characteristics of particulate matter and water-soluble inorganic ions in the Ili Valley Urban agglomeration, PM and PM samples were synchronously collected from July 19 to July 29, 2021 in Yining City and the surrounding three counties, and then nine types of water-soluble inorganic ions (WSIIs) were analyzed. The spatial distribution characteristics, existence form of WSIIs, and influencing factors were discussed in depth.

[Influence of enteral feeding initiation time on intestinal flora and metabolites in very low birth weight infants: a prospective study].

Objectives: To study the influence of enteral feeding initiation time on intestinal flora and metabolites in very low birth weight (VLBW) infants.

Methods: A total of 29 VLBW infants who were admitted to the Department of Neonatology, Children's Hospital of Chongqing Medical University, from June to December, 2020, were enrolled as subjects. According to the enteral feeding initiation time after birth, the infants were divided into two groups: <24 hours (=15) and 24-72 hours (=14).

[Pollution Characteristics of Water-soluble Ions in PM During the Lantern Festival of 2021 in Zibo City].

Based on the online ion data, we have analyzed the cause of a PM pollution episode, which happened during the Lantern Festival in Zibo in 2021. The pollution characteristics of water-soluble ion components were analyzed, the formation mechanism of secondary inorganic ions (SNA) was discussed, and the changes in the liquid water content (LWC) and pH value of particulate matter before and after pollution were comparatively analyzed. The results showed that the pollution period before the Lantern Festival (T1) and the pollution period at night (T2) (WSIIs) during the Lantern Festival were 46.

Knee Scores of Patients with Non-Lateral Compartmental Knee Osteoarthritis Undergoing Mobile, Fixed-Bearing Unicompartmental Knee and Total Knee Arthroplasties: A Randomized Controlled Trial.

Objective: To evaluate knee scores and clinical efficacies of patients with non-lateral unicompartmental knee osteoarthritis (OA) who randomly underwent mobile-bearing (MB) unicompartmental knee arthroplasty (UKA), fixed-bearing (FB) UKA, and total knee arthroplasty (TKA).

Methods: From September 2015 to February 2017, a prospective, randomized, parallel, single-center trial of 180 patients (78 males and 102 females; 63.3 ± 6.

A New Three-Dimensional Classification of Proximal Tibiofibular Fractures: A Multicenter Study.

Objectives: To propose an updated definition of proximal tibia and fibula fracture (PTFF) and establish a three-dimensional (3D) structure-based classification of PTFF.

Methods: In total, 1358 adult patients (837 males and 521 females; 43.61 ± 15.

LncRNA AC079630.4 expression associated with the progression and prognosis in lung cancer.

Mounting evidence has demonstrated the important role of long non-coding RNAs (lncRNAs) in the development and progression of lung cancer. In this study, we combined the methods of bioinformatics analysis and experimental validation, and aim to investigate the clinical significance and underlying mechanism of the novel lncRNA AC079630.4 in lung cancer.

Analysis of psychological status and effect of psychological intervention in quarantined population during the epidemic of SARS-CoV-2.

During outbreaks of the coronavirus disease 2019 (COVID-19), many countries adopted quarantine to slow the spread of the virus of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Quarantine will cause isolation from families, friends, and the public, which consequently leads to serious psychological pressure with potentially long-lasting effects on the quarantined population. Experience of specific practices to improve the psychological status of the mandatory quarantined population was limited.

The association between subclinical hypothyroidism and metabolic syndrome: an update meta-analysis of observational studies.

The association between subclinical hypothyroidism (SCH) and metabolic syndrome (MetS) has been widely discussed. This study aimed to conduct an update and comprehensive meta-analysis to reveal the risk of MetS and its components in SCH. PubMed, Embase and ISI Web of Knowledge were searched to identify relevant studies through February 20, 2020.