OBJECTIVE: To investigate the clinical characteristics of overlapping syndromes of low muscle mass in Chinese patients with rheumatoid arthritis (RA) and their impact on physical function. METHODS: Consecutive patients with RA were recruited from September 2019 to April 2024 at Department of Rheumatology and Immunology, Sun Yat-Sen Memorial Hospital. Clinical data including disease acti-vity, physical function and radiographic assessment were collected. All patients also finished measurement of body composition, grip strength, and gait speed, and overlapping syndromes of low muscle mass as well as malnutrition, sarcopenia, sarcopenic obesity, and cachexia were evaluated. The Stanford health assessment questionnaire- disability index (HAQ-DI) was used to evaluate physical function. Logistic regression was used to analyze the related factors of physical dysfunction. RESULTS: A total of 1 016 RA patients were recruited. Their mean age was (52.4±12.5) years, and 82.5% were female. There were 557 cases (54.8%) with overlapping syndromes of low muscle mass and all of them were malnutrition. On this basis, 326 cases (32.1%) exhibited sarcopenia, 124 (12.2%) sarcopenic obesity, and 33 (3.2%) cachexia. There were 584 (57.4%) of RA patients having physical dysfunction, with varying degrees of severity 421 (41.4%) mild, 124 (12.2%) moderate, and 39 (3.8%) severe. Compared with patients without overlapping syndromes of low muscle mass (n=459) or with malnutrition only (n=231), RA patients with both malnutrition and sarcopenia (n=326) had significantly higher core disease activity indicators and higher rate of physical dysfunction (69.6% vs. 42.0% vs. 56.6%). However, compared with patients without overlapping syndromes of low muscle mass, patients with malnutrition only had lower HAQ-DI score (median 0.0 vs. 0.1) and lower rate of physical dysfunction (42.0% vs. 56.6%). Multivariate Logistic regression analysis showed that simultaneously overlapping malnutrition and sarcopenia were associated factors of physical dysfunction (OR=2.021, 95%CI: 1.067-3.828), but malnutrition only was not. CONCLUSION Simultaneously overlapping malnutrition and sarcopenia can deteriorate disease activity and physical dysfunction in RA patients. The screening and evaluation of overlapping syndromes of low muscle mass, especially sarcopenia should be emphasized in patients with RA.
Humans ; Arthritis, Rheumatoid/physiopathology* ; Female ; Male ; Sarcopenia/complications* ; Middle Aged ; Cachexia/diagnosis* ; Malnutrition/etiology* ; Obesity/physiopathology* ; Body Composition ; Syndrome ; Hand Strength ; Adult ; Muscle, Skeletal/physiopathology* ; Surveys and Questionnaires

INTRODUCTIONPostoperative cerebrospinal fluid (CSF) leak is a serious complication following transsphenoidal surgery for which elevated body mass index (BMI) has been implicated as a risk factor, albeit only in two recent North American studies. Given the paucity of evidence, we sought to determine if this association holds true in an Asian population, where the BMI criteria for obesity differ from the international standard.

METHODSA retrospective study of 119 patients who underwent 123 transsphenoidal procedures for sellar lesions between May 2000 and May 2012 was conducted. Univariate and multivariate logistic regression analyses were performed to investigate the impact of elevated BMI and other risk factors on postoperative CSF leak.

RESULTS10 (8.1%) procedures in ten patients were complicated by postoperative CSF leak. The median BMI of patients with postoperative leak following transsphenoidal procedures was significantly higher than that of patients without postoperative CSF leak (27.0 kg/m vs. 24.6 kg/m; p = 0.018). Patients categorised as either moderate or high risk under the Asian BMI classification were more likely to suffer from a postoperative leak (p = 0.030). Repeat procedures were also found to be significantly associated with postoperative CSF leak (p = 0.041).

CONCLUSIONElevated BMI is predictive of postoperative CSF leak following transsphenoidal procedures, even in an Asian population, where the definition of obesity differs from international standards. Thus, BMI should be considered in the clinical decision-making process prior to such procedures.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Anthropometry ; Asian Continental Ancestry Group ; Body Mass Index ; Body Weight ; Cerebrospinal Fluid Leak ; diagnosis ; Cerebrospinal Fluid Rhinorrhea ; diagnosis ; Female ; Humans ; Male ; Middle Aged ; Multivariate Analysis ; Neurosurgical Procedures ; adverse effects ; Obesity ; classification ; Postoperative Complications ; Postoperative Period ; Regression Analysis ; Retrospective Studies ; Risk Factors ; Singapore ; Young Adult

A boy was admitted at the age of 17 months. He had psychomotor retardation in early infancy. Physical examination revealed microcephalus, unusual facies, and a single palmar crease on his right hand, as well as muscle hypotonia in the extremities and hyperextension of the bilateral shoulder and hip joints. Genetic detection identified two pathogenic compound heterozygous mutations, c.8868-1G>A (splicing) and c.11624_11625del (p.V3875Afs*10), in the VPS13B gene, and thus the boy was diagnosed with Cohen syndrome. Cohen syndrome is a rare autosomal recessive disorder caused by the VPS13B gene mutations and has complex clinical manifestations. Its clinical features include microcephalus, unusual facies, neutropenia, and joint hyperextension. VPS13B gene detection helps to make a confirmed diagnosis.
Base Sequence ; Developmental Disabilities ; diagnosis ; genetics ; Fingers ; abnormalities ; Humans ; Infant ; Intellectual Disability ; diagnosis ; genetics ; Male ; Microcephaly ; diagnosis ; genetics ; Muscle Hypotonia ; diagnosis ; genetics ; Mutation ; Myopia ; diagnosis ; genetics ; Neutropenia ; complications ; genetics ; psychology ; Obesity ; diagnosis ; genetics ; Psychomotor Disorders ; diagnosis ; etiology ; genetics ; Retinal Degeneration ; diagnosis ; genetics ; Vesicular Transport Proteins ; genetics

Polycystic ovary syndrome (PCOS) is the most common metabolic and endocrine disorder in women. However, there is no agreement concerning how to diagnose and treat PCOS worldwide. Three practice guidelines or consensuses, including consensus from the European Society of Human Reproduction and Embryology (ESHRE)/the American Society for Reproductive Medicine (ASRM) in Rotterdam, diagnosis criteria and consensus in China, and clinical practice guideline from the Endocrine Society (ES) in the United States are widely recognized. The present paper may provide some guidance for clinical practice based on a comparative analysis of the above three practice guidelines or consensuses.
Adolescent ; Adult ; Consensus ; Female ; Humans ; Hyperandrogenism ; etiology ; Infertility, Female ; etiology ; Insulin Resistance ; Menstrual Cycle ; Obesity ; etiology ; Polycystic Ovary Syndrome ; complications ; diagnosis ; psychology ; therapy ; Practice Guidelines as Topic

OBJECTIVES: To discuss the clinical characteristics, diagnosis and treatment of adult spontaneous cerebrospinal fluid rhinorrhea (CSFR). METHODS: A retrospective study was conducted on 18 patients of CSFR. Nasal secretion was collected for biochemical analysis. Imaging examination was done for identification of the bony defect in skull base. RESULTS: In all cases, the glucose concentration of nasal secretion were more than 1.7 mmol/L, and the β-2 transferrin detected by immunoelectrophoresis technique were positive. Twelve cases were found to have bony defect in skull base. For the rest 6 cases without bony defect, MRI findings of 6 cases showed sinusoidal effusion with similar signals to cerebrospinal fluid, thus predicting the location of the leak. Conservative treatment was successful in one case, and the other 17 patients underwent endoscopic sinus surgery with computer assisted navigation system (CANS). The results of all cases underwent surgery were successful by one time. No recurrence occured during the follow-up time (11 to 24 months). CONCLUSIONS The incidence of adult CSFR is low, hence it is easily to be missed and misdiagnosed. The majority of CSFR patients are middle-aged and elderly obese women, often combined with hypertension, diabetes, moderate and severe osteoporosis due to no daily exercise habits. Correct medical history collection, reasonable preoperative examination and accurate preoperative localization of bony defect are essential for surgical repairment. CANS used during operation can enable surgeons to locate the site of leakage accurately and shorten the operation time.
Adult ; Aged ; Cerebrospinal Fluid Rhinorrhea ; diagnosis ; therapy ; Endoscopy ; Female ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Obesity ; complications ; Retrospective Studies ; Risk Factors ; Skull Base ; pathology

Autonomic Nervous System Diseases ; diagnosis ; etiology ; Child ; Female ; Humans ; Hypothalamic Diseases ; diagnosis ; etiology ; Hypoventilation ; diagnosis ; etiology ; Obesity ; complications ; psychology

The prevalence of non-alcoholic fatty liver disease (NAFLD) is increasing rapidly with the obesity and diabetes mellitus epidemics. It is rapidly becoming the most common cause of liver disease worldwide. NAFLD can progress to serious complications such as cirrhosis, hepatocellular carcinoma and death. Therefore, it is important to recognise this condition so that early intervention can be implemented. Lifestyle modifications and strict control of metabolic risk factors are the mainstay of treatment. As disease progression is slow in the majority of NAFLD patients, most can be managed well by primary care physicians. NAFLD patients with advanced liver fibrosis should be referred to specialist care for further assessment.
Carcinoma, Hepatocellular ; pathology ; Diet ; Disease Progression ; Humans ; Life Style ; Liver ; pathology ; Liver Cirrhosis ; pathology ; Liver Neoplasms ; pathology ; Metabolic Syndrome ; complications ; Non-alcoholic Fatty Liver Disease ; diagnosis ; therapy ; Obesity ; complications ; Prevalence ; Risk Factors ; Treatment Outcome

Sleep has important effects on physical and mental health, and sleep disorders are associated with increased mortality and morbidity. This study was conducted to evaluate the relationship between sleep duration or sleep quality and the risk of type 2 diabetes. The FACTS (FAmily CohorT Study in primary care) was established to investigate the relations between familial environment and health which was conducted at 22 family medicine outpatient clinics in general hospitals. Total 563 patients without diabetes who received > or =1 year follow-up examination were included in the analysis. We used the Pittsburgh Sleep Quality Index to determine sleep quality, and a score of > or =5 was considered to define poor sleep quality. Patients taking oral hypoglycemic agents, having a fasting glucose level of >126 mg/dL, or diagnosed with diabetes by physicians were classified as having diabetes. The median follow-up period was 2.5 years. Poor sleep quality was associated with a higher risk of diabetes after adjusting for age, sex, body mass index, income, physical activity, and family history of diabetes (relative risk=2.64; 95% confidence interval, 1.03-6.78). As a risk factor for the development of diabetes, poor sleep quality may independently increase the incidence of diabetes.
Aged ; Blood Glucose/analysis ; Body Mass Index ; Cohort Studies ; Demography ; Diabetes Mellitus, Type 2/complications/*diagnosis/drug therapy ; Female ; Follow-Up Studies ; Humans ; Hypoglycemic Agents/therapeutic use ; Male ; Middle Aged ; Obesity/complications ; Primary Health Care ; Risk Factors ; *Sleep ; Surveys and Questionnaires

Female ; Gastrectomy ; Humans ; Hyperpigmentation ; diagnosis ; Middle Aged ; Nerve Compression Syndromes ; diagnosis ; Obesity ; surgery ; Peripheral Nervous System Diseases ; diagnosis ; Postoperative Complications ; diagnostic imaging ; Pruritus ; diagnosis ; Weight Gain ; Weight Loss

Chemerin is a recently identified adipokine suggested to play a role in obesity and its metabolic complications. The relationship between visceral obesity and serum chemerin levels in type 2 diabetes (T2DM) is unknown and may differ from that of subjects without diabetes. Therefore, we evaluated whether serum chemerin was associated with visceral abdominal obesity in patients with T2DM. A total of 218 Korean patients with T2DM were enrolled and metabolic parameters, abdominal visceral and subcutaneous fat areas, and serum chemerin levels were measured. Serum chemerin level showed positive correlation with fasting insulin, HOMA-IR, serum triglyceride, serum creatinine, urine albumin/creatinine ratio, high-sensitivity C-reactive protein (hsCRP), fibrinogen, abdominal visceral fat area, visceral to subcutaneous fat area ratio, and negatively correlation with high density lipoprotein cholesterol and creatinine clearance (CCr) after adjusting for age, gender and body mass index. Multiple linear stepwise regression analysis showed that abdominal visceral fat area (β = 0.001, P < 0.001), serum triglyceride (β = 0.001, P < 0.001), CCr (β = -0.003, P = 0.001), hsCRP (β = 0.157, P = 0.001), fibrinogen (β = 0.001, P < 0.001) and BMI (β = 0.02, P = 0.008) independently affected log transformed serum chemerin levels. Higher serum chemerin level was associated with higher level of abdominal visceral fat area, serum triglyceride, hsCRP and fibrinogen and lower level of CCr in patients with T2DM. Serum chemerin may be used as a biomarker of visceral adiposity and chemerin may play a role in inflammation, decreased renal function, and increased cardiovascular risk in T2DM.
Adult ; Biomarkers/blood ; Body Mass Index ; C-Reactive Protein/analysis ; Chemokines/*blood ; Creatinine/blood/urine ; Diabetes Mellitus, Type 2/*blood/diagnosis ; Female ; Humans ; Insulin/blood ; Intercellular Signaling Peptides and Proteins/*blood ; Intra-Abdominal Fat/*pathology ; Linear Models ; Lipocalins/blood ; Male ; Middle Aged ; Obesity/complications ; Triglycerides/blood