[Summary] Next-generation sequencing is a revolution in the approach of genetic testing. It broadens the insight on the genetic diagnosis and research of monogenetic diabetes,which is represented by neonatal diabetes mellitus and maturity onset diabetes of the young.And it reveals advantages in exploring novel mutations.

Objective·To explore the biologic effect and mechanism of adenanthin (Aden) on multiple myeloma (MM) cells. Methods·MM cells, H929 and U266 were treated with various dose of Aden for different time, and the density and viability of MM cells were detected by trypan blue exclusion assay. After H929 and U266 cells were treated with various dose of Aden for 24 hours, cell growth inhibition was examined by CCK8 assay, and cell apoptosis was examined by AnnexinV-APC/PI staining assay. Apoptosis related proteins, NF-κB signaling pathway associated proteins and the NF-κB regulated proteins were detected by Western blotting. The effect of Aden on the thermal stability of IKKβ protein was determined by CETSA assay. Results·Trypan blue exclusion results showed that Aden inhibited cell growth and reduced cell viability in concentration and time dependent manners. U266 was more sensitive than H929 when exposed to the same concentration of Aden. The CCK8 results showed that Aden inhibited the growth of H929 and U266 cells in a concentration dependent manner. Flow cytometry results suggested that Aden induced a low apoptosis rate of MM cells. Moreover, cleavage of caspase3 and PARP were detected in U266 cells but not in H929 cells. CETSA assay indicated that Aden decreased the thermal stability of IKKβ. Expression of p-p65 and p-IκBα proteins decreased in MM cells treated with Aden. Conclusion·Aden significantly inhibits MM cell proliferation by inhibiting NF-κB activation through interacting with IKKβ. Aden has little effect on apoptosis of MM cells.

Objective To investigate the efficacy and safety of hypertonie saline enhanced radiofrequency ablation (RFA) in the treatment of liver cancer. Methods The clinical data of 42 patients with primary liver cancer (n = 28) or metastatic liver eancer (n = 14) who had been admitted to First Affiliated Hospital of Nanjing Medical University from September 2001 to December 2007 were collected. Forty-eight lesions were detected with a diameter ranging from 1.2 cm to 7.5 cm. RFA electrode and 20G needle were pricked into the target lesion under the guidance of B ultrasound or computed tomography (CT) through percutaneoas puncture or open approaches. An amount of 5-10 ml hypertonie saline was infused through the needle at regular intervals during RFA. All patients were followed up for 3-79 months. Contrast-enhanced ultrasound and CT scanning were performed postoperatively to determine the efficacy of RFA. The levels of alpha-fetoprotein (AFP) before and after treatment were compared using t test, and the survival of the patients were analyzed using a Kaplan-Meier survival curve. Results The AFP expression changed to negative in 14 out of the 18 AFP-positive patients, with statistical difference (t =7.703, P <0.05). The complete necrosis rate of tumors was 94% (45/48), and the necrosis rate of tumors with diameter of ≤4.0 cm reached 100% (35/35). The incidence of complication was 5% (2/42). No perioperative mortality occurred. The 1-, 2-, 3-year survival rates were 91%, 85% and 70%, respectively. Conclusions Hypertonic saline enhanced RFA in the treatment of liver cancer was proved to be safe and effective.

Objective Maternal dietary modifications determine the susceptibility to metabolic diseases in adult life.However, whether maternal high-fat diet can induce early-onset aberrant glucose and lipid metabolism in offspring mice is less understood .Materials and Methods We examined the effects of feeding the pregnant mice with either a high fat diet or nornal chow diet throughout pregnancy and lactation on the glucose and lipid metabolism in their offsprings . Some glucose and lipid metabolism biomarkers and hepatic histology were analyzed .Results At weaning, for males of dams fed high-fat diet , they had heavier body weight , the blood glucose levels were significantly higher at 30 min ( P<0.001) and 60 min (P<0.01) after intraperitoneal glucose administration , and the AUC was also significantly larger (P=0.0016) and HOMA-IR was higher(P<0.05).For females of dams fed high-fat diet, they had higher blood glucose levels at 30 min ( P<0.01 ) after intraperitoneal glucose administration .No significant differences were observed of AUC and HOMA-IR.Both males and females of dams fed high-fat diet had elevated total cholesterol levels ( P<0.0001 and P=0.0004, respectively).Triglyceride levels showed no significant differences between the two groups of males and females . The offsprings of high-fat diet group indicated hepatic steatosis and there were no differences between males and females . Conclusions Maternal high fat diet during pregnancy and lactation can induce early -onset aberrant glucose and lipid me-tabolism in offspring mice , and the male offsprings are more prone to metabolic changes , such as obesity , glucose intoler-ance and insulin resistance .

Objective: To study the effects of mm. abdominis exercise on lumbar spinal stenosis. Methods: 9 patients with lumbar spinal stenosis were treated with mm. abdominis exercises. The static and dynamic strength indexes, the sagittal diameter of canales spinalis tested by ultrasonography were observed and compared before and after treatment. Results: The effect of 3 patients was excellent, 5 good and 1 bad, and the strengths of mm. abdominis increased after treatment. The sagittal diameter of canales spinalis were 8.72±0.44mm and 10.78±0.44mm respectively before and after treatment. The difference was significant (P<0.001). Conclusion: It is suggested that mm. abdominis exercise is an effective technique in management of lumgar spinal stenosis.

Vocal fatigue（VF） is the common clinical symptom of voice diseases. It can also be a separate symptom and is considered to be a signal for the body to rest and to avoid pathological damage to the vocal cords. Therefore, the early identification and evaluation of vocal fatigue is of great value to the early prevention and treatment of vocal diseases. In recent years, there are many researches on the evaluation methods of vocalization fatigue. We searched the relevant literature and summarized the application status of vocal fatigue assessment methods, in order to provide reference for the selection and development of vocal fatigue assessment tools in clinical practice.
Humans ; Voice Quality ; Voice Disorders/diagnosis* ; Vocal Cords ; Surveys and Questionnaires ; Dysphonia/diagnosis*

Chromium is an essential mineral that is thought to be necessary for normal glucose homeostasis. Numerous studies give evidence that chromium picolinate can modulate blood glucose and insulin resistance. The main ingredient of Tianmai Xiaoke (TMXK) Tablet is chromium picolinate. In China, TMXK Tablet is used to treat type 2 diabetes. This study investigated the effect of TMXK on glucose metabolism in diabetic rats to explore possible underlying molecular mechanisms for its action.

Objective:To investigate the feasibility of deep learning radiomics model in the prediction of neoadjuvant chemotherapy (NAC) response in breast cancer based on ultrasound images at an early stage.Methods:Between January 2018 and June 2021, 218 patients with breast cancer who underwent NAC were enrolled in the retrospective study. All patients received a full cycle of NAC before surgery and underwent standard ultrasound examination before NAC and after the second cycles of NAC. Of all the patients, 166 patients came from institution 1 (the First Affiliated Hospital of Nanjing Medical University) were allocated into a primary cohort.Based on the architecture of Resnet 50 convolutional neural, a deep learning prediction model was built.Further validation was performed in an external testing cohort ( n=52) from institution 2 (General Hospital of Eastern Theater Command, PLA). The clinical model was constructed using independent clinical variables. To evaluate the predictive performance, areas under the curve (AUCs) of these models and two radiologists were compared by using the DeLong method. Results:The Resnet 50 model predicted the response of NAC with accuracy. The deep learning model, achieving an AUC of 0.923 (95% CI=0.884-0.962) in the primary cohort and an AUC of 0.896 (95% CI=0.807-0.980) in the test cohort, outperformed the clinical model and also performed better than two radiologists′ prediction (all P<0.05). Furthermore, the two radiologists achieved a better predictive efficacy (AUC 0.832 and 0.808 for radiologists 1 and 2, respectively) when assisted by the DL model (all P<0.01). Conclusions:The deep learning radiomics model is able to predict therapy response in the early-stage of NAC for breast cancer patients, which could guide clinicians and provide benefit for timely treatment strategy adjustment.

Humans ; Autistic Disorder ; China/epidemiology* ; Cohort Studies ; Autism Spectrum Disorder/genetics* ; Asian People

Objective: To observe the influence of lower wide pedicle frontal periosteum flap on frontal bone absorption rate after cranioplasty. Methods: From February 2016 to July 2017, the lower wide pedicle frontal periosteum flap was produced in 12 patients of Shanghai Ninth People′s Hospital (7 males/5 females, aged 5-9 years, 10 hypertelorism, 2 Crouzon syndrome), who accepted intro-cranio-route plastic surgery, to cover the frontal bone window. A spiral CT scans were applied one week (t1) and one year (t2) after surgery. DICOM data was imported into Mimics software to reconstruct the 3D model of skull. The bone window covered the frontal bone was selected and the bone volume was calculated. The absorption rate was calculated as (Vt₁-Vt₂)/Vt₁×100%. As a control group, the CT data of 20 patients (from January 2010 to December 2015, 11 males/9 females, 7 hypertelorism, 12 Crouzon syndrome, 1 Pfeiffer syndrome) were analyzed retrospectively in the same way, and compared to the experimental group. Results: The average bone absorption rate in experimental group was 8.65%±2.56% (n=12), while in control group it was 26.51%±5.23% (n=20). Significant statistical difference was observed. No further cranial defect was observed in one-year follow-up in both two groups. Conclusions The lower wide pedicle frontal periosteum flap reduces the bone absorption rate after intro-cranio-route plastic surgery. It could also help to repair the anterior cranial base defect during the surgery. This technique was recommend as a regular step in craniofacial surgeries.