Optical enhancement mode 2 improves the detection rate of gastric neoplastic lesion in high-risk populations: A multicenter randomized controlled clinical study.

OBJECTIVES: Detection of early neoplastic lesions is crucial for improving the survival rates of patients with gastric cancer. Optical enhancement mode 2 is a new image-enhanced endoscopic technique that offers bright images and can improve the visibility of neoplastic lesions. This study aimed to compare the detection of neoplastic lesions with optical enhancement mode 2 and white-light imaging (WLI) in a high-risk population. METHODS: In this prospective multicenter randomized controlled trial, patients were randomly assigned to optical enhancement mode 2 or WLI groups. Detection of suspicious neoplastic lesions during the examinations was recorded, and pathological diagnoses served as the gold standard. RESULTS: A total of 1211 and 1219 individuals were included in the optical enhancement mode 2 and WLI groups, respectively. The detection rate of neoplastic lesions was significantly higher in the optical enhancement mode 2 group (5.1% vs. 1.9%; risk ratio, 2.656 [95% confidence interval, 1.630-4.330]; p < 0.001). The detection rate of neoplastic lesions with an atrophic gastritis background was significantly higher in the optical enhancement mode 2 group (8.6% vs. 2.6%, p < 0.001). The optical enhancement mode 2 group also had a higher detection rate among endoscopists with different experiences. CONCLUSIONS: Optical enhancement mode 2 was more effective than WLI for detecting neoplastic lesions in the stomach, and can serve as a new method for screening early gastric cancer in clinical practice. CLINICAL REGISTRY: United States National Library of Medicine (https://www. CLINICALTRIALS: gov), ID: NCT040720521.

Nutritional status of the older adults in nursing homes: A cross-sectional study.

AIM AND OBJECTIVES: To investigate the nutritional status of older adults in nursing homes in Chongqing, China, compare and analyse the differences in the physical condition, cognitive function and social-related factors of older adults with different nutritional statuses. BACKGROUND: Malnurtition in the older people has become a priority concer, and the incidence and factors associated with malnutrition vary somewhat by healthcare setting. In Chongqing ,China, there is lack of research on malnutrition of the older people in nursing homes. Here, we investigated the incidence of malnutrition and analysed the associated factors. DESIGN: A cross-sectional study. METHODS: From January to April 2023, a cross-sectional survey was conducted in three nursing homes in Chongqing, China. Participants completed a series of questionnaires, including the Demographic Information Questionnaire which included age, gender, education level, previous occupation, marital status and other information. The survey also included validated non-demographic instruments [Short-Form Mini-Nutritional Assessment (MNA-SF), Barthel Index (BI) and Mini-mental State Examination (MMSE)] to identify related impact factors. The Guidelines for cross-sectional studies were used in this study (Data S1). RESULTS: 209 older adults aged 60 and over participated in this study, of whom 121 were women and 88 were men. The average (SD) age of the participants was 84.7 (6.3) years. Of the participants, 46.4% were classified as well nourished. About 39.2% were at risk of malnutrition and 14.4% were malnourished. Compared to those who were well nourished, those who were malnourished or at risk of becoming malnourished were more likely to suffer from comorbidities, polypharmacy, a higher risk of falling, ADL dependence and to receive more nutritional interventions. However, there are no significant differences after adjustment for age, education level, previous occupation, marital status, length of stay, and type of health care payment. CONCLUSION: Malnutrition is a common problem among older adults innursing homes in Chongqing, China. There are certain differences in physical conditions and nutritional interventions among older adults withdifferent nutritional status. PUBLIC CONTRIBUTION: This study suggests that the problem of malnutrition is very prominent in nursing homes in Chongqing, China. Cognitive impairment, impaired activities of daily living, fall risk and nutritional intervention need to be prevalent in older adults with (risk of) malnutrition.

Kinetically Controlled Structural Modulation of the Self-Assembled Silver Nanoclusters.

Metal nanoclusters (NCs) with atomic precision are growing into a fascinating class of building blocks for supramolecular chemistry. What makes it more interesting is the enhanced optical properties of the ordered structures, including aggregation-induced emission (AIE). However, algorithm dictating the self-assembly of metal NCs in multicomponent environment remains largely unknown, and effective means to manipulate the self-assembly is still lacking, especially under kinetic control. Herein, nanofibers which contain sub-1 nm nanowires and exhibit circularly polarized phosphorescence (CPP) are obtained from crystallization-induced self-assembly (CISA) of water-soluble, negatively charged silver NCs (Ag9 -NCs) in the presence of glutamic acid (Glu). By the introduction of a positively-charged additive (choline chloride, CC), the structure of the nanowires is modulated and the lateral interaction between adjacent nanofibers is adjusted, leading to simultaneous improvement of the phosphorescence and chirality which finally enhances CPP. Importantly, changing the time at which CC is introduced altered the kinetic pathway of the CISA, which enables to effectively manipulate both the final structures of the self-assembled Ag9 -NCs and the output of the optical signals.

Self-Assembly of Atomically Precise Silver Nanoclusters in Crowded Colloids into Ultra-Long Ribbons with Tunable Supramolecular Chirality.

Atomically precise metal nanoclusters (NCs) emerge as fascinating synthons in self-assembled materials. The self-assembly of metal NCs are highly sensitive to the environment because they have an inorganic-organic hybridized structure and a relatively complicated conformation. Here, it is shown that when confined in crowded colloids, a water-soluble Ag9 -cored nanocluster (Ag9 -NC) can self- assemble into ultra-long (up to millimeters) and photoluminescent ribbons with high flexibility. The ribbon contains rectangularly organized columns of Ag9 -NCs and can undergo secondary self-assembly to form bundled and branched structures. Formation of ribbons is observed in all the tested colloids, including lyotropic liquid crystals and disordered, three-dimensional network. The high viscosity/elasticity of the crowded colloids weakens gravity-induced sedimentation of the ribbons, leading to the formation of an interesting class of inorganic-organic composite materials where the hard Ag-containing skeleton strengthens the soft matter. The simultaneously occurring symmetry breaking during the self-assembly of Ag9 -NCs gives uncontrolled supramolecular chirality, which can be tuned through the majority rule and soldier-and-sergeant rule by the introduction of chiral seeds. The regulated chirality and the intrinsic photoluminescence of the Ag9 -NCs ribbons impart the composite material circularly polarized luminescence, opening the door for a variety of potential applications.

Follicular lymphoma with a predominantly diffuse growth pattern with 1p36 deletion: a clinicopathologic analysis of eight cases / 中华病理学杂志

Objective: To investigate the clinical and pathologic features and diagnosis of follicular lymphoma (FL) with a predominantly diffuse growth pattern (DFL) with 1p36 deletion. Methods: Eight cases of DFL with 1p36 deletion diagnosed at Department of Pathology, Beijing Friendship Hospital, Capital Medical University (n=5) and the Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital (n=3) from January 2017 to January 2023 were included. Their clinicopathologic features and follow-up data were analyzed. Immunohistochemistry and fluorescence in situ hybridization (FISH) were performed. Results: There were five males and three females, with a median age of 67 years, and inguinal lymphadenopathy was found as the main symptom. Histologically, similar morphologic features were sheared among all cases, with effaced nodal structure and characterized by proliferation of centrocytes in a diffuse pattern, with or without follicular components. The germinal center-related markers such as CD10 and/or bcl-6 were expressed in the tumor cells, and 1p36 deletion but not bcl-2 translocation was appreciable in these cases. Conclusions: DFL with 1p36 deletion is a rare subtype of FL, with some overlaps with other types of FL or indolent B-cell lymphomas in their pathologic features. An accurate diagnosis requires comprehensive considerations based on their clinical, pathologic, immunohistochemical, and molecular features.

[Neuropsychological development of large for gestational age infants at the age of 12 months]. / 大于胎龄儿12æœˆé¾„ç¥žç»å¿ƒç†å‘è‚²çŠ¶å†µç ”ç©¶.

OBJECTIVES: To investigate the level of neuropsychological development in large for gestational age (LGA) infants at the age of 12 months. METHODS: The infants, aged 12 to <13 months, who attended the Outpatient Service of Child Care in the First Affiliated Hospital of Shandong First Medical University from December 2021 to June 2023, were enrolled as subjects. According to the gestational age and birth weight, they were divided into preterm appropriate for gestational age (AGA) group, preterm LGA group, early term AGA group, early term LGA group, full-term AGA group, and full-term LGA group. A modified Poisson regression analysis was used to investigate the association between LGA and neuropsychological development outcome at 12 months of age. RESULTS: After adjustment for confounding factors, compared with the full-term AGA group at the age of 12 months, the full-term LGA group had a significant increase in the risk of language deficit (RR=1.364, 95%CI: 1.063-1.750), the early term LGA group had significant increases in the risk of abnormal gross motor, fine motor, language, and the preterm LGA group had significant increases in the risk of abnormal language, social behavior, and total developmental quotient (P<0.05); also, the early term AGA group had higher risks of developmental delay across all five attributes and in total developmental quotient at the age of 12 months (P<0.05); except for the language attribute, the preterm AGA group had higher risks of developmental delay in the other 4 attributes (P<0.05). CONCLUSIONS: The neuropsychological development of LGA infants with different gestational ages lags behind that of full-term AGA infants at 12 months of age, and follow-up and early intervention of such infants should be taken seriously in clinical practice.

Patient satisfaction with humanistic nursing in Chinese secondary and tertiary public hospitals: a cross-sectional survey.

Background: Humanistic care pertains to the abilities, attitudes, and behaviors central to patient-centered care, contributing to patients' sense of safety and wellbeing. This study aimed to assess the satisfaction of patients with humanistic nursing care in Chinese secondary and tertiary public hospitals. Methods: A national cross-sectional survey was conducted across 30 provinces and 83 hospitals in China. Patient satisfaction with humanistic care was assessed using the Methodist Health Care System Nurse Caring Instrument (NCI), which encompasses 20 items across 12 dimensions. Each item was rated on a 7-point Likert scale, yielding a total score of 140. Multiple linear regression analysis was employed to identify factors associated with patients' satisfaction. Results: Moderate satisfaction (mean score 91.26 ± 13.14) with humanistic nursing care was observed among the 17,593 participants. Factors significantly associated with patient satisfaction included age, hospital type, presence of children, educational attainment, place of residence, family monthly income, and medical insurance type. Conclusion: The study findings highlight the importance of tailored interventions, evidence-based practice guidelines, and patient-centered care in improving patients' satisfaction with humanistic nursing care. Continuous emphasis on nursing education and professional development is crucial for enhancing humanistic care and patient satisfaction.

[Advances in cardiovascular protection effects and mechanisms of allicin].

Cardiovascular diseases(CVD) with high morbidity and mortality pose severe threats to human life. Allicin, a main active ingredient of garlic, possesses multiple pharmaceutical activities. It not only exerts cardioprotective effects but also prevents the risk factors for CVD. Allicin exerts cardioprotective effects via a variety of mechanisms, including inhibiting oxidative stress, apoptosis, autophagy, and inflammatory responses, regulating lipid metabolism and gut microbiota, inducing hydrogen sulfide production, and dilating vessels. Despite the valuable cardioprotective effects, the instability of allicin has hindered the basic research and clinical application. This paper reviews the progress in the cardioprotective effects and mechanisms of allicin in the last decade and summarizes the methods to improve the stability of allicin. In addition, this review provides a reference for further research and development of allicin in cardiovascular protection.

Endoscopic and surgical treatment of jejunal gallstone ileus caused by cholecystoduodenal fistula: A case report.

BACKGROUND: Gallstone ileus is a rare complication of gallstone disease in which a stone enters the enteric lumen and causes mechanical obstruction usually by bilioenteric fistula. Gallstone ileus accounts for 25% of all bowel obstructions among the population > 65 years of age. Despite medical advances over the last decades, gallstone ileus is still associated with high rates of morbidity and mortality. CASE SUMMARY: An 89-year-old man with a history of gallstones was admitted to the Gastroenterology Department of our hospital, complaining of vomiting and cessation of bowel movements and flatus. Abdominal computed tomography showed cholecystoduodenal fistula and upper jejunum obstruction due to gallstones, pneumatosis in the gallbladder, and pneumobilia indicating Rigler's triad. Considering the high risk of surgical management, we performed propulsive enteroscopy and laser lithotripsy twice to relieve the bowel occlusion. However, the intestinal obstruction was not relieved by the less invasive procedure. Then, the patient was transferred to the Department of Biliary-pancreatic Surgery. The patient underwent the one-stage procedure including laparoscopic duodenoplasty (fistula closure), cholecystectomy, enterolithotomy, and repair. After surgery, the patient presented with complications of acute renal failure, postoperative leak, acute diffuse peritonitis, septicopyemia, septic shock, and multiple organ failure, and finally died. CONCLUSION: Early surgical intervention is the mainstay of treatment for gallstone ileus. For elderly patients with significant comorbidities, enterolithotomy alone is advised.

Effects of OsAOX1a Deficiency on Mitochondrial Metabolism at Critical Node of Seed Viability in Rice.

Mitochondrial alternative oxidase 1a (AOX1a) plays an extremely important role in the critical node of seed viability during storage. However, the regulatory mechanism is still poorly understood. The aim of this study was to identify the regulatory mechanisms by comparing OsAOX1a-RNAi and wild-type (WT) rice seed during artificial aging treatment. Weight gain and time for the seed germination percentage decreased to 50% (P50) in OsAOX1a-RNAi rice seed, indicating possible impairment in seed development and storability. Compared to WT seeds at 100%, 90%, 80%, and 70% germination, the NADH- and succinate-dependent O2 consumption, the activity of mitochondrial malate dehydrogenase, and ATP contents all decreased in the OsAOX1a-RNAi seeds, indicating that mitochondrial status in the OsAOX1a-RNAi seeds after imbibition was weaker than in the WT seeds. In addition, the reduction in the abundance of Complex I subunits showed that the capacity of the mitochondrial electron transfer chain was significantly inhibited in the OsAOX1a-RNAi seeds at the critical node of seed viability. The results indicate that ATP production was impaired in the OsAOX1a-RNAi seeds during aging. Therefore, we conclude that mitochondrial metabolism and alternative pathways were severely inhibited in the OsAOX1a-RNAi seeds at critical node of viability, which could accelerate the collapse of seed viability. The precise regulatory mechanism of the alternative pathway at the critical node of viability needs to be further analyzed. This finding might provide the basis for developing monitoring and warning indicators when seed viability declines to the critical node during storage.

Novel risk-factor analysis and risk-evaluation model of falls in patients receiving maintenance hemodialysis.

This study investigated the prevalence of falls in maintenance hemodialysis (MHD) patients, and established a nomogram model for evaluating the fall risk of MHD patients. This study enrolled 303 MHD patients from the dialysis department of a tertiary hospital in July 2021. The general data of the participants, as well as the scores on the FRAIL scale, Sarcopenia Screening Questionnaire (SARC-F), Short Physical Performance Battery (SPPB) Scale, and of anxiety and depression, and the occurrence of falls were recorded. Using R language, data were assigned to the training set (n = 212) and test set (n = 91), and a logistic regression model was established. The regression model was verified by the receiver operating characteristic (ROC) curve, area under the curve (AUC), and the calibration curve. As a result, the prevalence of falls in MHD patients was 20.46%. Risk factors for falls in the optimal multivariate logistic regression model included hearing impairment, the depression score, and the SPPB score, of which a higher depression score (odds ratio (OR): 1.28, 95% confidence interval (CI): 1.09-1.49, p = 0.002) and SPPB ≤ 6 (ORvsSPPB9-12: 3.69, 95% CI: 1.04-13.14, p = 0.043) conferred independent risk for falls. AUC of the nomogram in the training was 0.773, which in the test group was 0.663. The calibration and standard curves were fitted closely, indicated that the evaluation ability of the model was good. Thus, a higher depression score and SPPB ≤ 6 are independent risk factors for falls in MHD patients, and the nomogram with good accuracy and discrimination that was established in this study has clinical application value.

Trans-Reflective Structural Color Filters Assisting Multifunctional-Integrated Semitransparent Photovoltaic Window.

Multifunction-integrated semitransparent organic photovoltaic cells (STOPVs), with high power generation, colorful transmittance/reflectance, excellent ultraviolet (UV) protection, and thermal insulation, are fully in line with the concept of architectural aesthetics and photoprotection characteristics for building-integrated photovoltaic-window. For the indelible rainbow color photovoltaic window, one crucial issue is to realize the integration of these photons- and photoelectric-related multifunction. Herein, dynamic transmissive and reflective structural color controllable filters, with asymmetrical metal-insulator-metal (MIM) configurations (20 nm-Ag-HATCN-30 nm-Ag) through machine learning, are deliberately designed for colorful STOPV devices. This endows the resultant integrated devices with ≈5% enhanced power conversion efficiency (PCE) than the bare-STOPVs, gifted UV (300-400 nm) blocking rates as high as 93.5, 94.1, 90.2, and 94.5%, as well as a superior infrared radiation (IR) (700-1400 nm) rejection approaching 100% for transparent purple-, blue-, green- and red-STOPV cells, respectively. Most importantly, benefiting from the photonic recycling effect beyond microcavity resonance wavelength, a reported quantum utilization efficiency (QUE) as high as 80%, is first presented for the transparent-green-STOPVs with an ultra-narrow bandgap of 1.2 eV. These asymmetrical Febry-Pérot transmissive and reflective structural color filters can also be extended to silicon- and perovskite-based optoelectric devices and make it possible to integrate additional target optical functions for multi-purpose optoelectric devices.

Pathogenicity classification of SOD1 variants of uncertain significance by in vitro aggregation propensity.

Deposition of insoluble SOD1 aggregates in motor neurons is the hallmark of SOD1-associated ALS. Mutant SOD1 protein promotes structural instability that leads to misfolded SOD1 protein aggregates, which can be recapitulated in vitro. Therefore, aggregation propensity in cell lines can be a reliable indicator for the pathogenicity classification of SOD1 variants. Herein, we performed in vitro experiment to classify the pathogenicity of 34 SOD1 variants of uncertain significance (VUS) from 215 variants reported previously. The clinical features of 234 ALS patients with 31 SOD1 likely pathogenic (LP) variants were summarized. 31 VUS variants formed aggregates spontaneously, indicating LP variants. Missense variants were mainly located in the C-terminal of SOD1. Among patients with 31 SOD1 LP variants, 75% of patients had lower limb onset. The onset of familial ALS patients (45.7±14.0 years) is earlier than sporadic ALS patients (50.6±13.1 years). Our results expand the spectrum of SOD1 mutations and highlight the natural history of SOD1-positive ALS patients for further clinical trials in SOD1-related ALS.

Oxymatrine regulates autophagy through AMPK/mTOR pathway to inhibit OGD/R-induced damage in astrocytes / 中国药理学通报

Aim To investigate the role of autophagy regulated by the AMPK/mTOR pathway in the prevention of oxygen-glucose deprivation/reperfusion injury ( OGD/R) in astrocytes using oxymatrine ( OMT ) . Methods The isolated and purified astrocytes ( AS) were randomly divided into control group ( CON group), OGD/R group and OGD/R + OMT group (0. 1, 0. 2, 0. 4 mmol · L

Meta-analysis of therapeutic effect of intense pulsed light combined with meibomian gland expression on meibomian gland dysfunction related dry eye / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To systematically evaluate the efficacy of intense pulsed light(IPL)combined with meibomian gland expression(MGX)in the treatment of meibomian gland dysfunction(MGD)-related dry eye disease(DED).METHODS: Chinese and English databases such as Chinese national knowledge infrastructure(CNKI), Wanfang, VIP, CBM, ClinicalTrials, PubMed, Embase and Web of Science were searched, and clinical randomized controlled trials(RCTs)using IPL combined with MGX in the experimental group and MGX alone in the control group from January 2017 to September 2022 were included. Six outcome indicators including clinical efficacy, ocular surface disease index(OSDI)score, break-up time(BUT), corneal fluorescein staining(CFS)score, tear meniscus height(TMH)and meibomian gland yielding secretion score(MGYSS)were Meta analyzed by Review Manager 5.3 and Stata 14 software.RESULTS: A total of 15 RCTs were included, with 1 345 patients with MGD-related dry eye. Meta-analysis results showed that the treatment of MGD-related dry eye in the experimental group improved better clinical efficacy(OR=4.95, 95%CI: 2.76～8.90, Z=5.35, P&#x0026;#x003C;0.00001), BUT(SMD=1.26, 95%CI: 0.84～1.69, Z=5.78, P&#x0026;#x003C;0.00001), TMH(SMD=0.37, 95%CI: 0.15～0.59, Z=3.33, P=0.0009), and reduced OSDI scores(SMD=-0.86, 95%CI: -1.44～-0.27, Z=2.85, P=0.004)as well as MGYSS(SMD=-2.43, 95%CI: -4.31～-0.54, Z=2.52, P=0.01)than the control group. However, there was no statistically significant difference in CFS scores(SMD=-0.19, 95%CI: -0.46～0.07, Z=1.43, P=0.15).CONCLUSION: IPL combined with MGX in the treatment of MGD related dry eye can increase the overall effective rate and improve the symptoms and signs of patients with MGD related dry eye better than MGX alone.

Advances in cardiovascular protection effects and mechanisms of allicin / 中国中药杂志

Cardiovascular diseases(CVD) with high morbidity and mortality pose severe threats to human life. Allicin, a main active ingredient of garlic, possesses multiple pharmaceutical activities. It not only exerts cardioprotective effects but also prevents the risk factors for CVD. Allicin exerts cardioprotective effects via a variety of mechanisms, including inhibiting oxidative stress, apoptosis, autophagy, and inflammatory responses, regulating lipid metabolism and gut microbiota, inducing hydrogen sulfide production, and dilating vessels. Despite the valuable cardioprotective effects, the instability of allicin has hindered the basic research and clinical application. This paper reviews the progress in the cardioprotective effects and mechanisms of allicin in the last decade and summarizes the methods to improve the stability of allicin. In addition, this review provides a reference for further research and development of allicin in cardiovascular protection.

Neuropsychological development of large for gestational age infants at the age of 12 months / 中国当代儿科杂志

OBJECTIVES@#To investigate the level of neuropsychological development in large for gestational age (LGA) infants at the age of 12 months.@*METHODS@#The infants, aged 12 to <13 months, who attended the Outpatient Service of Child Care in the First Affiliated Hospital of Shandong First Medical University from December 2021 to June 2023, were enrolled as subjects. According to the gestational age and birth weight, they were divided into preterm appropriate for gestational age (AGA) group, preterm LGA group, early term AGA group, early term LGA group, full-term AGA group, and full-term LGA group. A modified Poisson regression analysis was used to investigate the association between LGA and neuropsychological development outcome at 12 months of age.@*RESULTS@#After adjustment for confounding factors, compared with the full-term AGA group at the age of 12 months, the full-term LGA group had a significant increase in the risk of language deficit (RR=1.364, 95%CI: 1.063-1.750), the early term LGA group had significant increases in the risk of abnormal gross motor, fine motor, language, and the preterm LGA group had significant increases in the risk of abnormal language, social behavior, and total developmental quotient (P<0.05); also, the early term AGA group had higher risks of developmental delay across all five attributes and in total developmental quotient at the age of 12 months (P<0.05); except for the language attribute, the preterm AGA group had higher risks of developmental delay in the other 4 attributes (P<0.05).@*CONCLUSIONS@#The neuropsychological development of LGA infants with different gestational ages lags behind that of full-term AGA infants at 12 months of age, and follow-up and early intervention of such infants should be taken seriously in clinical practice.

Research progress of TRPV4 in glaucoma optic neuropathy / 国际眼科杂志(Guoji Yanke Zazhi)

Glaucomatous optic neuropathy(GON)is the difficulty of glaucoma treatment. In recent years, a variety of theories have been put forward about the pathogenesis of GON, but none of them can explain the principle of optic neuropathy caused by all types of glaucoma, which makes the disease difficult to treat in clinical treatment and is not conducive to early intervention. The latest research found that the transient receptor potential channel vanillic acid subfamily 4(TRPV4)in the retina plays an important role in various pathogenesis of GON. This article will review TRPV4 and its role in the occurrence and development of GON in order to find a common “connection point” for the multiple mechanism theories of GON, which will contribute to further understanding and clinical treatment of the disease.

Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy, which is caused by mutations mainly in genes encoding BBSome complex and IFT complex. Here, we reported a 21-year-old female with BBS characterized by three primary features including obesity, retinitis pigmentosa sine pigmento and bilateral renal cysts. She also had some secondary features such as diabetes mellitus, nonalcoholic fatty liver disease, subclinical hypothyroidism and mild conductive hearing damage. Whole exome sequencing revealed two compound heterozygous mutations in exon 2 of the BBS12 gene (c.188delC, p.T63fs and c.1993_1995del, p.665_665del) in this patient. Sanger sequencing showed that her father and mother carried c.188delC (p.T63fs) and c.1993_1995del (p.665_665del) variants, respectively, while her parents were free of BBS-related symptoms. In conclusion, this case reported two novel mutations (c.188delC, p.T63fs and c.1993_1995del, p.665_665del) of the BBS12 gene in a girl presented with BBS, which provides novel genetic resources for studies of the disease. Meanwhile, the BBS case shows the entire development progress from her birth to adulthood, which helps facilitate clinicians' understanding of BBS.