Clinical manifestations and pathogenesis of mitochondrial dysfunction in short stature.

Background: Mitochondria plays a pivotal role in cellular energy production, and their dysfunction can lead to a spectrum of mitochondrial diseases, affecting various organs with a wide range of clinical symptoms. Among these, short stature is a notable manifestation, yet its pathogenesis related to mitochondrial dysfunction remains underexplored.

Data Sources: A comprehensive literature search was conducted in the PubMed, Medline, and EMBASE databases from inception to November 2024.

Long-term outcome of childhood and adolescent patients with craniopharyngiomas: a single center retrospective experience.

Background: The treatment of craniopharyngiomas (CPs) poses challenges due to their proximity to critical neural structures, the risk of serious complications, and the impairment of quality of life after treatment. However, long-term prognostic data are still scarce. Therefore, the purpose of this retrospective study is to evaluate the long-term outcomes of patients with CPs after treatment.

Impact of Early Life Famine Exposure on Body Composition and Metabolic Profiles in Adulthood.

The relationship between the famine and metabolic syndrome has been reported, but there is a lack of more detailed changes in metabolic profiles. It is unclear how famine affects body composition. This study included 21,142 participants from the China National Health Survey.

Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis.

Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder with considerable clinical heterogeneity. To further characterize the syndrome's heterogeneity, we applied latent class analysis (LCA) on reported cases to identify phenotypic subtypes. By searching PubMed, Embase, China National Knowledge Infrastructure and Wanfang databases from inception to February 2024, we enrolled 97 cases with nonsense, frameshift or missense variants in the AHDC1 gene.

AI-Powered Microfluidics: Shaping the Future of Phenotypic Drug Discovery.

Phenotypic drug discovery (PDD), which involves harnessing biological systems directly to uncover effective drugs, has undergone a resurgence in recent years. The rapid advancement of artificial intelligence (AI) over the past few years presents numerous opportunities for augmenting phenotypic drug screening on microfluidic platforms, leveraging its predictive capabilities, data analysis, efficient data processing, etc. Microfluidics coupled with AI is poised to revolutionize the landscape of phenotypic drug discovery.

Brachytherapy in craniopharyngiomas: a systematic review and meta-analysis of long-term follow-up.

Objective: Brachytherapy has been indicated as an alternative option for treating cystic craniopharyngiomas (CPs). The potential benefits of brachytherapy for CPs have not yet been clarified. The purpose of this work was to conduct a meta-analysis to analyze the long-term efficacy and adverse reactions profile of brachytherapy for CPs.

Artificial intelligence facial recognition system for diagnosis of endocrine and metabolic syndromes based on a facial image database.

Aim: To build a facial image database and to explore the diagnostic efficacy and influencing factors of the artificial intelligence-based facial recognition (AI-FR) system for multiple endocrine and metabolic syndromes.

Methods: Individuals with multiple endocrine and metabolic syndromes and healthy controls were included from public literature and databases. In this facial image database, facial images and clinical data were collected for each participant and dFRI (disease facial recognition intensity) was calculated to quantify facial complexity of each syndrome.

CARDS, a Novel Prognostic Index for Risk Stratification and In-Hospital Monitoring.

: Sodium fluctuation is independently associated with clinical deterioration. We developed and validated a prognostic index based on sodium fluctuation for risk stratification and in-hospital monitoring. : This study included 33,323 adult patients hospitalized at a tertiary care hospital in 2014.

Blood Lipid Disorders in Post-Operative Craniopharyngioma Children and Adolescents and the Improvement with Recombinant Human Growth Hormone Replacement.

Context: The high prevalence of hypothalamic obesity (HO) and dyslipidemia in individuals with craniopharyngioma (CP) following surgery is a cause for increasing concern. However, few studies have explored the lipid profile in pediatric CP patients, with inconsistent findings. In addition, the role of recombinant human growth hormone (rhGH) replacement remains unclear in these patients.

Interaction of PM and pre-pregnancy body mass index on birth weight: A nationwide prospective cohort study.

Background: Fine particulate matter (PM), one of the most common air pollutants worldwide, has been associated with many adverse birth outcomes in some studies. Pre-pregnancy body mass index (BMI) is an important indicator of maternal obesity that may also contribute to a wide range of birthweight outcomes. Both PM and maternal obesity have been found associated with issues on neonatal birthweight respectively, and more attentions and interests are focusing on their combined effect on pregnancy outcomes.

Review on Facial-Recognition-Based Applications in Disease Diagnosis.

Diseases not only manifest as internal structural and functional abnormalities, but also have facial characteristics and appearance deformities. Specific facial phenotypes are potential diagnostic markers, especially for endocrine and metabolic syndromes, genetic disorders, facial neuromuscular diseases, etc. The technology of facial recognition (FR) has been developed for more than a half century, but research in automated identification applied in clinical medicine has exploded only in the last decade.

Preconception TSH and Adverse Pregnancy Outcomes in China: A Nationwide Prospective Cohort Study.

Background: The relationship between maternal thyroid function and pregnancy outcomes remains controversial and the safe range of TSH is still unclear in women planning pregnancy.

Methods: This population-based cohort study enrolled Chinese women who became pregnant in 30 provinces from 2010 to 2012 from the National Free Preconception Checkups Project. The maternal TSH level within 6 months before pregnancy and different pregnancy outcomes were collected and analyzed using restricted cubic spline regression model for dose-response relationship and potential optimal cutoff values.

Evaluation of efficacy and safety of long-acting PEGylated recombinant human growth hormone (Jintrolong) for patients with growth hormone deficiency.

Objectives: This study aimed to compare the efficacy, safety and metabolic effects of once-weekly pegylated human growth hormone (PEG-rhGH) with daily rhGH in patients with growth hormone deficiency (GHD).

Design: 48 patients enrolled in this 12-month single-center, open-label, prospective, randomized controlled trial is allocated to PEG-rhGH 0.12 mg/kg/w and 0.

Facial Recognition Intensity in Disease Diagnosis Using Automatic Facial Recognition.

Artificial intelligence (AI) technology is widely applied in different medical fields, including the diagnosis of various diseases on the basis of facial phenotypes, but there is no evaluation or quantitative synthesis regarding the performance of artificial intelligence. Here, for the first time, we summarized and quantitatively analyzed studies on the diagnosis of heterogeneous diseases on the basis on facial features. In pooled data from 20 systematically identified studies involving 7 single diseases and 12,557 subjects, quantitative random-effects models revealed a pooled sensitivity of 89% (95% CI 82% to 93%) and a pooled specificity of 92% (95% CI 87% to 95%).

The Negative Impacts of Acromegaly on Bone Microstructure Not Fully Reversible.

Purpose: This study aimed to evaluate the bone turnover markers and bone microarchitecture parameters derived from high-resolution peripheral quantitative computed tomography (HR-pQCT) in active and controlled acromegaly patients.

Methods: This cross-sectional study involved 55 acromegaly patients from a tertiary hospital (23 males and 32 females, aged 45.0 ± 11.

Experience of Ectopic Adrenocorticotropin Syndrome: 88 Cases With Identified Causes.

Objective: Ectopic adrenocorticotropic hormone syndrome (EAS) is a rare cause of Cushing's syndrome and diagnosis and management remain challenging. The aim of this study was to present the clinical spectrum of a group of EAS cases in a single center to explore better management strategies.

Methods: A retrospective study was conducted to identify 88 confirmed EAS cases at our hospital from 1984 to 2019.

Efficacy and safety of long-acting growth hormone in children with short stature: a systematic review and meta-analysis.

Purpose: Long-acting growth hormone (GH) has been developed to address the noncompliance and decreased efficacy associated with daily GH injections. We aimed to evaluate the efficacy and safety of long-acting GH replacement therapy in children with short stature.

Methods: Randomized controlled trials (RCTs) that investigated the efficacy and safety of long-acting GH therapy in children with short stature in comparison with daily GH injections were searched in Medline, Embase, and the Cochrane Central Register of Controlled Trials.

Characteristics and reference values of fat mass index and fat free mass index by bioelectrical impedance analysis in an adult population.

Background & Aims: We aim to examine the influence of sex, age, region and ethnicity on fat mass index (FMI) and fat free mass index (FFMI), and to establish FMI and FFMI reference values in Chinese adults.

Methods: A stratified cluster sampling method was adopted to enroll Chinese participants in this cross-sectional study. Questionnaire surveys and medical examinations were performed to collect data, and body composition parameters were measured by bioelectrical impedance analysis.

11β-Hydroxysteroid dehydrogenase type 1 shRNA ameliorates glucocorticoid-induced insulin resistance and lipolysis in mouse abdominal adipose tissue.

Long-term glucocorticoid exposure increases the risk for developing type 2 diabetes. Prereceptor activation of glucocorticoid availability in target tissue by 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) coupled with hexose-6-phosphate dehydrogenase (H6PDH) is an important mediator of the metabolic syndrome. We explored whether the tissue-specific modulation of 11β-HSD1 and H6PDH in adipose tissue mediates glucocorticoid-induced insulin resistance and lipolysis and analyzed the effects of 11β-HSD1 inhibition on the key lipid metabolism genes and insulin-signaling cascade.

Transgenic overexpression of hexose-6-phosphate dehydrogenase in adipose tissue causes local glucocorticoid amplification and lipolysis in male mice.

The prereceptor activation of glucocorticoid production in adipose tissue by NADPH-dependent 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) has emerged as a potential mechanism in the pathogenesis of visceral obesity and metabolic syndrome. Hexose-6-phosphate dehydrogenase (H6PDH) is an endoplasmic reticulum lumen-resident enzyme that generates cofactor NADPH and thus mediates 11β-HSD1 activity. To determine the role of adipose H6PDH in the prereceptor modulation of 11β-HSD1 and metabolic phenotypes, we generated a transgenic (Tg) mouse model overexpressing H6PDH under the control of the enhancer-promoter region of the adipocyte fatty acid-binding protein (aP2) gene (aP2/H6PDH Tg mice).