Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of PHF6 gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodactylia, and linear skin hyperpigmentation. The gene results of the second-generation sequencing technology showed that there was a novel heterozygous mutation site c.346C>T (p.Arg116*) of the PHF6 (NM032458.3), variation rating as pathogenic variation. During the follow-up, the patient developed astigmatism, strabismus, awake bruxism, and stereotyped behavior, and the linear skin hyperpigmentation became gradually more evident. The disease is lack of effective therapy so far.
Humans ; Male ; Female ; Child ; Infant ; Intellectual Disability/genetics* ; Mental Retardation, X-Linked/pathology* ; Obesity/complications* ; Hypogonadism/pathology*

Objective: To investigate the effect of visceral fat area (VFA) on the surgical efficacy and early postoperative complications of radical gastrectomy for gastric cancer. Methods: A retrospective cohort study method was used. Clinicopathological data and preoperative imaging data of 195 patients who underwent D2 radical gastric cancer surgery at the First Affiliated Hospital of Xi'an Jiaotong University from January 2014 to December 2017 were analyzed retrospectively. Inclusion criteria: (1) complete clinicopathological and imaging data; (2) malignant gastric tumor diagnosed by preoperative pathology, and gastric cancer confirmed by postoperative pathology; (3) no preoperative complications such as bleeding, obstruction or perforation, and no distant metastasis. Those who had a history of abdominal surgery, concurrent malignant tumors, poor basic conditions, emergency surgery, palliative resection, and preoperative neoadjuvant therapy were excluded. The VFA was calculated by software and VFA ≥ 100 cm² was defined as visceral obesity according to the Japan Obesity Association criteria . The patients were divided into high VFA (VFA-H, VFA≥100 cm², n=96) group and low VFA (VFA-L, VFA<100 cm², n=99) group . The clinicopathological characteristics, surgical outcomes and early postoperative complications were compared between the two groups. Univariate and multivariate Logistic regression models were used to analyze the risk factors of early complications. Receiver operating characteristic (ROC) curve was used to analyze predictive values of VFA for early complications. Pearson's χ² test was used to analyze the correlation between BMI and VFA. Results: There were no significant differences in terms of gender, age, American Society of Anesthesiologists physical status classification, preoperative comorbidities, preoperative anemia, tumor TNM staging, N staging, T staging and tumor differentiation, surgical method, extent of resection, and tumor location between the VFA-L group and the VFA-H group (all P>0.05). However, patients in the VFA-H group had higher BMI, larger tumor, lower rate of hypoalbuminemia and greater subcutaneous fat area (SFA) (all P<0.05). The VFA-H group presented significantly longer operation time and significantly less number of harvested lymph nodes as compared to the VFA-L group (both P<0.05). However, there were no significant differences in intraoperative blood loss, conversion to laparotomy and postoperative hospital stay (all P>0.05). Complications of Clavien-Dindo grade II and above within 30 days after operation were mainly anastomosis-related complications (leakage, bleeding, infection and stricture), intestinal obstruction and incision infection. The VFA-H group had a higher morbidity of early complications compared to the VFA-L group [24.0% (23/96) vs 10.1% (10/99), χ²=6.657, P=0.010], and the rates of anastomotic complications and incision infection were also higher in the VFA group [10.4% (10/96) vs. 3.0% (3/99), χ²=4.274, P=0.039; 7.3% (7/96) vs. 1.0% (1/99), P=0.033]. Multivariate logistic analysis showed that high BMI (OR=3.688, 95%CI: 1.685-8.072, P=0.001) and high VFA (OR=2.526, 95%CI: 1.148-5.559,P=0.021) were independent risk factors for early complications. The area under the ROC curve (AUC) of VFA for predicting early complications was 0.645, which was higher than that of body weight (0.591), BMI (0.624) and SFA (0.626). Correlation analysis indicated that there was a significantly positive correlation between BMI and VFA (r=0.640, P<0.001). Conclusion: VFA ≥ 100 cm² is an independent risk factor for early complications after radical gastrectomy for gastric cancer.It can better predict the occurrence of above early postoperative complications.
Gastrectomy/methods* ; Humans ; Laparoscopy/methods* ; Lipids ; Obesity/surgery* ; Obesity, Abdominal/surgery* ; Postoperative Complications/epidemiology* ; Retrospective Studies ; Stomach Neoplasms/pathology*

OBJECTIVE: To investigate the effects of MetS on the prognosis of patients with clear cell renal cell carcinoma (ccRCC). METHODS: Clinical and pathological data and the laboratory test of ccRCC 342 patients with diverticular stones who underwent ccRCC who underwent radical or partial nephrectomy were retrospectively collected and analyzed.The patients were divided into MetS group and non-MetS group, and the subgroups were defined according to the tumor size. The overall survival (OS), cancer-specific survival (CSS), and progression-free survival (PFS) of the two groups were analyzed by univariate Cox analysis, and the subgroup analyses were also performed. Kaplan-Meier survival curve and survival analysis for OS, CSS, and PFS of the two groups and the subgroups were conducted. RESULTS: Univariate Cox analysis showed that MetS was a protective factor of postoperative OS [hazard ratio (HR)=0.551, 95%CI: 0.321-0.949, P=0.031], CSS (HR=0.460, 95%CI: 0.234-0.905, P=0.025), and PFS (HR 0.585, 95%CI: 0.343-0.998, P=0.049) in the patients with ccRCC. In the subgroup with tumor size≤4 cm, MetS was not associated with postoperative OS (HR=0.857, 95%CI: 0.389-1.890, P=0.702), CSS (HR=1.129, 95%CI: 0.364-3.502, P=0.833), and PFS (HR=1.554, 95%CI: 0.625-3.864, P=0.343). In the subgroup with tumor size>4 cm, Mets was a protective factor of postoperative OS (HR=0.377, 95%CI: 0.175-0.812, P=0.013), CSS (HR=0.280, 95%CI: 0.113-0.690, P=0.006), and PFS (HR=0.332, 95%CI: 0.157-0.659, P=0.002); Obesity was a protective factor of postoperative CSS (HR=0.464, 95%CI: 0.219-0.981, P=0.044), and PFS (HR=0.445, 95%CI: 0.238-0.833, P=0.011). Kaplan-Meier survival analysis showed that the long-term survival of patients with MetS was better than those without MetS in OS (P=0.029), CSS (P=0.021), and PFS (P=0.046); for the subgroup with tumor size≤4 cm, there was no significant difference in postoperative OS (P=0.702), CSS (P=0.833), and PFS (P=0.339) between patients with and without MetS; For the subgroup with tumor size>4 cm, the OS (P=0.010), CSS (P=0.003), and PFS (P=0.001) of patients with MetS were better than those without MetS. CONCLUSION MetS was a protective factor of postoperative OS, CSS, and PFS in the patients with ccRCC, which was more obvious in subgroup with tumor size>4 cm. And obesity, the component of MetS, was correlated with postoperative OS and CSS.
Carcinoma ; Carcinoma, Renal Cell/surgery* ; Humans ; Kidney Neoplasms/pathology* ; Metabolic Syndrome/complications* ; Obesity ; Prognosis ; Retrospective Studies

INTRODUCTION: Pregnant women are reported to be at increased risk of severe coronavirus disease 2019 (COVID-19) due to underlying immunosuppression during pregnancy. However, the clinical course of COVID-19 in pregnancy and risk of vertical and horizontal transmission remain relatively unknown. We aim to describe and evaluate outcomes in pregnant women with COVID-19 in Singapore. METHODS: Prospective observational study of 16 pregnant patients admitted for COVID-19 to 4 tertiary hospitals in Singapore. Outcomes included severe disease, pregnancy loss, and vertical and horizontal transmission. RESULTS: Of the 16 patients, 37.5%, 43.8% and 18.7% were infected in the first, second and third trimesters, respectively. Two gravidas aged ≥35 years (12.5%) developed severe pneumonia; one patient (body mass index 32.9kg/m2) required transfer to intensive care. The median duration of acute infection was 19 days; one patient remained reverse transcription polymerase chain reaction (RT-PCR) positive >11 weeks from diagnosis. There were no maternal mortalities. Five pregnancies produced term live-births while 2 spontaneous miscarriages occurred at 11 and 23 weeks. RT-PCR of breast milk and maternal and neonatal samples taken at birth were negative; placenta and cord histology showed non-specific inflammation; and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-specific immunoglobulins were elevated in paired maternal and umbilical cord blood (n=5). CONCLUSION The majority of COVID-19 infected pregnant women had mild disease and only 2 women with risk factors (obesity, older age) had severe infection; this represents a slightly higher incidence than observed in age-matched non-pregnant women. Among the women who delivered, there was no definitive evidence of mother-to-child transmission via breast milk or placenta.
Abortion, Spontaneous/epidemiology* ; Adult ; COVID-19/transmission* ; COVID-19 Nucleic Acid Testing ; COVID-19 Serological Testing ; Cohort Studies ; Disease Transmission, Infectious/statistics & numerical data* ; Female ; Fetal Blood/immunology* ; Humans ; Infectious Disease Transmission, Vertical/statistics & numerical data* ; Live Birth/epidemiology* ; Maternal Age ; Milk, Human/virology* ; Obesity, Maternal/epidemiology* ; Placenta/pathology* ; Pregnancy ; Pregnancy Complications, Infectious/physiopathology* ; Pregnancy Outcome/epidemiology* ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Prospective Studies ; RNA, Viral/analysis* ; Risk Factors ; SARS-CoV-2 ; Severity of Illness Index ; Singapore/epidemiology* ; Umbilical Cord/pathology* ; Young Adult

Background: The nucleotide-binding and oligomerization domain-like receptor protein 3 (NLRP3) inflammasome composed of NLRP3, apoptosis-associated speck-like protein containing CARD (ASC), and caspase-1 is engaged in the inflammatory response of many kidney diseases and can be activated by purinergic 2X7 receptor (P2X7R). This study was conducted to explore whether P2X7R plays a pathogenic role in the podocyte damage of obesity-related glomerulopathy (ORG) and whether this role is mediated by the activation of NLRP3 inflammasome. Methods: A mouse model of ORG was established by high-fat diet feeding. The conditionally immortalized mouse podocytes were cultured with leptin or with leptin and P2X7R antagonist (KN-62 or A438079). The mRNA and protein expression of the P2X7R and NLRP3 inflammasome components including NLRP3, ASC, and caspase-1, as well as the podocyte-associated molecules including nephrin, podocin, and desmin in mouse renal cortex or cultured mouse podocytes were tested by real-time-polymerase chain reaction and Western blot analysis, respectively. Results: The significantly upregulated expression of P2X7R and NLRP3 inflammasome components and the NLRP3 inflammasome activation were observed in the renal cortex (in fact their location in podocytes was proved by confocal microscopy) of ORG mice in vivo, which were accompanied with the morphological changes of podocyte damage and the expression changes of podocyte-associated molecules. Similar changes in the expression of P2X7R and NLRP3 inflammasome components as well as in the expression of podocyte-associated molecules were also observed in the cultured podocyte studies treated by leptin in vitro, and all of the above changes were significantly attenuated by the P2X7R antagonist KN-62 or A438079. Conclusions P2X7R could trigger the activation of NLRP3 inflammasome, and the activated P2X7R/NLRP3 inflammasome in podocytes might be involved in the podocyte damage of ORG.
Animals ; Blotting, Western ; Body Weight ; physiology ; Inflammasomes ; metabolism ; Kidney Glomerulus ; metabolism ; pathology ; Male ; Mice ; Mice, Inbred C57BL ; NLR Family, Pyrin Domain-Containing 3 Protein ; genetics ; metabolism ; Obesity ; complications ; Podocytes ; metabolism ; pathology ; Receptors, Purinergic P2X7 ; genetics ; metabolism

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

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

This study aimed to evaluate the association between body mass index (BMI) and progression in triple-negative breast cancer (TNBC). We retrospectively reviewed the medical records of 50 patients with TNBC who underwent breast-conserving surgery or mastectomy between 2007 and 2014. All patients were classified according to BMI (median 23.5 kg/m2, range 17.2-31.6 kg/m2): 31 patients (62%) were classified as being overweight or obese (BMI ≥ 23 kg/m2) and 19 patients (38%) were classified as having a normal body weight (BMI < 23 kg/m2). The median follow-up for patients was 31.1 months (range, 6.7-101.9 months). Progression occurred in 7 patients (14%), including 5 ipsilateral breast tumor recurrences, 2 regional lymph node metastases, and 5 distant metastases. Progression was significantly correlated with overweight or obese patients (P = 0.035), while none of the normal weight patients showed progression. The 3-year disease-free survival (DFS) and overall survival (OS) rates were 85.0% and 87.7%, respectively. DFS was significantly reduced in overweight or obese patients compared to that in normal weight patients (P = 0.035). However, OS was not significantly compromised by being overweight or obese (P = 0.134). In conclusion, being overweight or obese negatively affects DFS in TNBC patients.
Adult ; Aged ; Body Mass Index ; Disease Progression ; Disease-Free Survival ; Female ; Follow-Up Studies ; Humans ; Middle Aged ; Neoplasm Recurrence, Local ; Obesity/*complications ; Overweight/*complications ; Prognosis ; Retrospective Studies ; Risk Factors ; Survival Rate ; Triple Negative Breast Neoplasms/*complications/mortality/*pathology

PURPOSE: This study was conducted to synthesis the results of research on relationships of cognitive impairment with multi-dimensional correlates of rheumatic disease through a systematic literature review and meta-analysis. METHODS: For the study purpose, 23 studies were selected through a systematic process of searching the literature. RESULTS: The study results showed that among general characteristics, age and education were the variables having a significant relationship with cognitive impairment. Among health risk factors, obesity appeared to have a significant positive relationship with cognitive impairment. For past history, diabetes and hypertension were shown to have a significant positive relationship with cognitive impairment. It was noted also that aPL, one of the physiological factor, had significant association with cognitive impairment. None of the medication related factors had a significant relationship with cognitive impairment. Results showed that among disease related factors, disease activity had the highest relationship with cognitive impairment. Depression, among psychological factors, was the only variable having a significant relationship with cognitive impairment. CONCLUSION: The findings indicate that the variables strongly impacting on cognitive impairment in rheumatic disease are depression and disease activity.
Anxiety ; Cognition ; Cognition Disorders/complications/*pathology ; Databases, Factual ; Depression/complications ; Humans ; Hypertension/complications ; Obesity/complications ; Rheumatic Diseases/complications/*pathology ; Risk Factors

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