Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease characterized by retinopathy, obesity, and polydactyly. So far 21 candidate genes have been discovered, and mutations of such genes can all cause the BBS phenotype. As one of the main features of the disease, the obesity in BBS has been associated with leptin resistance and abnormal adipogenesis. However, its molecular etiology is not yet completely clear. Here the molecular mechanism of BBS-associated obesity is reviewed.
Bardet-Biedl Syndrome ; genetics ; Humans ; Obesity ; genetics ; Phenotype ; Polydactyly ; genetics

Objective:To analyze the clinical value of ultrasound monitoring of endometrial thickness in assessing pregnancy rate improvement after estrogen administration following a missed abortion.Methods:A retrospective study was conducted on 86 patients who underwent surgical abortion at Cixi Maternal and Child Health Hospital from January 2022 to June 2023. Based on the treatment received, the patients were divided into two groups: a control group and an observation group, with 43 patients in each group. The control group received only routine postoperative care without any medication, while the observation group received estrogen treatment after surgery. The clinical efficacy, endometrial thickness, intrauterine adhesion and re-pregnancy rate were compared between the two groups.Results:In the observation group, there was significant difference in endometrial thickness in terms of intergroup, group-by-time interaction, and time effect ( Fintergroup =129.49, Finteraction =14.25, Ftime =146.64, all P < 0.001). Intrauterine adhesions were less severe in the observation group compared with the control group ( χ2 = 4.34, P < 0.05). The clinical effective rate was significantly higher in the observation group than in the control group [88.37% (38/43) vs. 69.76% (30/43), Z = 2.35, P = 0.019]. Additionally, the rate of re-pregnancy was significantly higher in the observation group than in the control group [46.54% (20/43) vs. 13.95% (6/43), χ2 = 10.81, P < 0.05]. Conclusion:Patients who have retained abortion can benefit from ultrasound examination to assess endometrial thickness after estrogen administration. This approach significantly enhances endometrial thickness, promotes menstrual recovery, and reduces intrauterine adhesions. It also improves the rate of re-pregnancy and is highly valuable in clinical settings.

Objective:To investigate the application value of enhanced recovery after surgery (ERAS) in perioperative period of laparoscopic sleeve gastrectomy (LSG).Method:The retrospective cohort study was conducted. The clinical data of 1 181 patients undergoing LSG in the Sir Run Run Shaw Hospital, Affiliated with the Zhejiang University School of Medicine from January 2021 to December 2023 were collected. There were 242 males and 939 females, aged (31±8)years. Of 1 181 patients, 598 cases receiving routine perioperative care were divided into the control group, and 583 cases receiving perioperative care with ERAS were divided into the ERAS group. Measurement data with normal distribution were represented as Mean± SD, and the independent sample t test was used for comparison between the groups. Measurement data with skewed distribution were represented as M( Q1, Q3), and the Mann-Whitney rank sum test was used for comparison between the groups. Count data were expressed as absolute numbers or percentages, and the chi-square test or Fisher exact probability were used for comparison between the groups. Repeated measurement data were analyzed using the repeated ANOVA, with baseline scores as covariates. Simple effects analysis was conducted in case of interaction, and multiple comparisons were adjusted using the Bonferroni method. Results:(1) Postoperative outcomes. The numerical rating scale (NRS) scores for pain at immediate return to the ward and on the third postoperative mornings changed from 5.35±0.93 to 2.57±0.83 in the control group, versus changed from 3.15±0.93 to 0.70±0.65 in the ERAS group, showing significant difference between the two groups ( Ftime=66.58, Fgroup=1 765.85, Finteraction=6.90, P<0.05). After adjusting NRS scores for pain at immediate return to the ward as the baseline, results of simple effects analysis showed that on the third postoperative mornings, the NRS scores in the ERAS group were lower by 1.89, 1.53, and 1.76 respectively compared to the control group ( P<0.05). Cases with nausea at immediate return to the ward and on the third postoperative mornings changed from 497 to 97 in the control group, versus changed from 198 to 11 in the ERAS group, showing signifi-cant difference between the two groups ( χ2=294.45, 398.76,209.39, 73.00, P<0.05). Cases with vomiting at immediate return to the ward and on the third postoperative mornings changed from 243 to 41 in the control group, versus changed from 51 to 2 in the ERAS group, showing significant difference between the two groups ( χ2=160.54, 149.37, 71.76, 35.69, P<0.05). The duration of postoperative hospital stay was (3.22±0.65)days in the control group, versus (2.17±0.49)days in the ERAS group, showing a significant difference between the two groups ( t=-11.89, P<0.05). (2) Complications. The incidence of cases with dehydration within postoperative 30 days was 0.50%(3/598) in the control group, versus 0.69%(4/583) in the ERAS group, showing no significant difference between the two groups ( P>0.05). None of patient in the control group and the ERAS group experienced bleeding, gastric leakage, intra-abdominal infection, and no patient had unplanned secondary surgery within postoperative 30 days. Conclusions:ERAS in perioperative period of LSG are safe and feasible. Compared to routine care, ERAS can significantly reduce postoperative pain, decrease the incidence of postoperative nausea and vomiting, shorten the postoperative hospital stay, and do not increase the rate of postoperative complications or unplanned secondary surgeries within postoperative 30 days.