Heart sound classification algorithm based on time-frequency combination feature and adaptive fuzzy neural network / 生物医学工程学杂志

Feature extraction methods and classifier selection are two critical steps in heart sound classification. To capture the pathological features of heart sound signals, this paper introduces a feature extraction method that combines mel-frequency cepstral coefficients (MFCC) and power spectral density (PSD). Unlike conventional classifiers, the adaptive neuro-fuzzy inference system (ANFIS) was chosen as the classifier for this study. In terms of experimental design, we compared different PSDs across various time intervals and frequency ranges, selecting the characteristics with the most effective classification outcomes. We compared four statistical properties, including mean PSD, standard deviation PSD, variance PSD, and median PSD. Through experimental comparisons, we found that combining the features of median PSD and MFCC with heart sound systolic period of 100-300 Hz yielded the best results. The accuracy, precision, sensitivity, specificity, and F1 score were determined to be 96.50%, 99.27%, 93.35%, 99.60%, and 96.35%, respectively. These results demonstrate the algorithm's significant potential for aiding in the diagnosis of congenital heart disease.

Cognitive phenotype and biological mechanisms of Turner syndrome / 中华行为医学与脑科学杂志

Turner syndrome is a disease resulted from the complete or partial loss of an X chromosome, and the typical karyotype is 45, X. Patients with Turner syndrome are susceptible to many medical problems, including short stature, congenital agenesis of ovaries and cognitive function impairment. More specifically, recent studies reported that these patients’ brain structure and brain function are different with normal people, especially in the occipital area, the amygdala, the prefrontal cortex and temporal lobe.And they also show a particular pattern of cognitive impairment(including visuospatial ability, abstract reasoning and excutive function) and social impairment and an increased risk of specific neurodevelopmental disorders. Additionally, haploinsufficiency of escape genes, gonadal steroid deficiency and failure to express parentally imprinted genes may contribute to the differences in brain structure and brain function between these patients and normal people, causing cognitive and social impairment in patients with Turner syndrome. This study reviewed the alterations and biological mechanisms in brain structure, brain function and cognitive profile in patients with Turner syndrome.

Hippo pathway-manipulating neutrophil-mimic hybrid nanoparticles for cardiac ischemic injury via modulation of local immunity and cardiac regeneration

The promise of regeneration therapy for restoration of damaged myocardium after cardiac ischemic injury relies on targeted delivery of proliferative molecules into cardiomyocytes whose healing benefits are still limited owing to severe immune microenvironment due to local high concentration of proinflammatory cytokines. Optimal therapeutic strategies are therefore in urgent need to both modulate local immunity and deliver proliferative molecules. Here, we addressed this unmet need by developing neutrophil-mimic nanoparticles NM@miR, fabricated by coating hybrid neutrophil membranes with artificial lipids onto mesoporous silica nanoparticles (MSNs) loaded with microRNA-10b. The hybrid membrane could endow nanoparticles with strong capacity to migrate into inflammatory sites and neutralize proinflammatory cytokines and increase the delivery efficiency of microRNA-10b into adult mammalian cardiomyocytes (CMs) by fusing with cell membranes and leading to the release of MSNs-miR into cytosol. Upon NM@miR administration, this nanoparticle could home to the injured myocardium, restore the local immunity, and efficiently deliver microRNA-10b to cardiomyocytes, which could reduce the activation of Hippo-YAP pathway mediated by excessive cytokines and exert the best proliferative effect of miR-10b. This combination therapy could finally improve cardiac function and mitigate ventricular remodeling. Consequently, this work offers a combination strategy of immunity modulation and proliferative molecule delivery to boost cardiac regeneration after injury.

Necrolytic Migratory Erythema—A Case Report of Pancreatic Occupying Lesion / 罕见病研究

Glucagonoma is a rare neuroendocrine tumor of α cells of the pancreas. The tumor excessively secretes glucagon and causes glucagonoma syndrome.70%-90% of patients with glucagonoma will develop necrolytic migratory erythema (NME). We reported a patient of glucagonoma syndrome who was presented to the dermatology outpatient clinic with a 2-year-history of recurrent erythema and scaling on the skin migrating throughout the body. A skin biopsy was performed and resulting features matched with NME, whilst imaging examinations suggested a soft tissue density tumor present in the tail of the pancreas with somatostatin receptor expression and laboratory tests found an elevated levels of serum glucagon. After the diagnosis was confirmed, the patient was treated with surgical resection of the glucagonoma and the skin eruptions resolved rapidly in 4 days. Meanwhile, we reviewed relevant literature published in recent years and summarized its clinical characteristics in order to improve its understanding by clinicians, including clinical manifestations, laboratory and imaging examinations, diagnosis and treatments.

Clinical Features and Mutation Analysis of Gordon Holmes Syndrome Associated with RNF216 Gene Mutation and a Literature Review / 罕见病研究

  Objective  To summarize the clinical characteristics and RNF216 gene mutation of a patient with Gordon Holmes syndrome (GHS), and to improve the understanding of the genetic and clinica characteristics of this disease through literature review.  Methods  We collected the clinical data of the patient with GHS, extracted the DNA from 2 mL peripheral venous blood of the patient and his parents for whole exome gene detection, and then we analyzed the clinical and genetic characteristics of all previously reported patients with RNF216 gene mutation.  Results  The young male patient was short in stature at sixyearsold and was diagnosed growth hormone deficiency.He had no secondary sexual characteristics by the age of 15 and was diagnosed hypogonadal hypogonadism.After the age of 22, he gradually developed abnormal gait and had progressive decline in speech, motor, and cognitive functions.Whole exome sequencing revealed a homozygous, nonsense mutation c.1549C>T (p.R517*) in the RNF216 gene.His parents were consanguineous and were heterozygous carriers of the mutations with phenotypic normality.Combined with literature review and this case report results showed that a total of 21 patients of the disease in the world and among them 15 had pathogenic variants of RNF216 gene mutation.7 of the 15 had truncated mutations, 5 had missense mutations, and 1 synonym mutation, 1 splice mutation, and 1 deletion mutation respectively.RNF216 gene mutation can be seen in neurodegenerative diseases with multiple overlapping symptoms of GHS, Huntington-like disease, and 4H syndrome.The main clinical manifestations are hypogonadotropic hypogonadism and early-onset progressive neurological dysfunction in adolescence or early adulthood.The median age of onset of neurological symptoms is 28 years old, featuring cerebellar ataxia, dysarthria, and cognitive impairment, as well as imaging manifestations of extensive white matter lesions and cerebellar atrophy.  Conclusions  The mutation of RNF216 gene can cause GHS.Genetic testing is helpful to the diagnosis and treatment of rare diseases.

Heart sound classification based on improved mel frequency cepstrum coefficient and integrated decision network method / 生物医学工程学杂志

Heart sound analysis is significant for early diagnosis of congenital heart disease. A novel method of heart sound classification was proposed in this paper, in which the traditional mel frequency cepstral coefficient (MFCC) method was improved by using the Fisher discriminant half raised-sine function (F-HRSF) and an integrated decision network was used as classifier. It does not rely on segmentation of the cardiac cycle. Firstly, the heart sound signals were framed and windowed. Then, the features of heart sounds were extracted by using improved MFCC, in which the F-HRSF was used to weight sub-band components of MFCC according to the Fisher discriminant ratio of each sub-band component and the raised half sine function. Three classification networks, convolutional neural network (CNN), long and short-term memory network (LSTM), and gated recurrent unit (GRU) were combined as integrated decision network. Finally, the two-category classification results were obtained through the majority voting algorithm. An accuracy of 92.15%, sensitivity of 91.43%, specificity of 92.83%, corrected accuracy of 92.01%, and F score of 92.13% were achieved using the novel signal processing techniques. It shows that the algorithm has great potential in early diagnosis of congenital heart disease.

Clinical research progress in secondary hyperuricemia associated with endocrine diseases / 中华全科医师杂志

Hyperuricemia is caused by a of purine metabolism disorder and/or reduced uric acid excretion, and the prevalence of hyperuricemia in China has increased significantly in recent years. According to the etiology, hyperuricemia can be primary or secondary. The endocrine system related diseases are one of the important causes leading to secondary hyperuricemia, which is easily missed in general practitice. This article reviews the clinical characteristics and research progress of hyperuricemia secondary to endocrine diseases.

Value of octreotide suppression test in predicting the efficacy of long-acting somatostatin receptor ligands in pituitary GH adenomas / 中华内分泌代谢杂志

Objective:To explore the value of octreotide suppression test(OST) in predicting the efficacy of somatostatin receptor ligands(SRLs) in the treatment of active acromegaly.Methods:The clinical data of 76 patients with active acromegaly from 2011 to 2020 was retrospectively analyzed. OST was carried out as follows: After an overnight fasting and baseline sampling of growth hormone(GH), 100 μg octreotide was subcutaneously injected, and sampling for GH was obtained every 2 hours for 8 hours. All patients were treated with SRLs for at least 3 months. A good GH response is defined as a post-treatment random GH<1 μg/L or >80% fall compared with the baseline GH. A good insulin-like growth factor Ⅰ(IGF-Ⅰ) response is defined as IGF-Ⅰ<1.3 upper limit of normal(ULN) or >50% reduction compared with the baseline. If both GH and IGF-Ⅰ fulfill the criteria of a good response, it is defined as a good GH and IGF-Ⅰ response.Results:The baseline level of GH during OST was 15.00(6.38, 34.20) μg/L, the median time to reach the nadir GH was(3.65±1.65) hours, and the nadir GH level was 1.47(0.50, 4.19) μg/L. The median GH suppression rate was 89.12%(72.71%, 95.09%). When the cutoff value of GH suppression rate in predicting a good GH response was 89.32%, the area under the curve(AUC) was 0.74, with a sensitivity of 81.80% and specificity of 66.00%. When the cutoff value of GH suppression rate in predicting a good IGF-Ⅰ response was 93.14%, the AUC was 0.64, with a sensitivity of 50.00% and specificity of 75.60%. When the GH suppression rate was 90.71%, the AUC was 0.78, with the sensitivity of 83.30% and specificity of 70.00% in predicting a good GH and IGF-Ⅰ response. Compared with GH/IGF-Ⅰ non-responders, GH/IGF-Ⅰ responders displayed lower nadir GH during OST, higher GH suppression rate and IGF-Ⅰ reduction rate, and lower ratio of IGF-1 to ULN( P<0.05). Conclusion:GH suppression rate during the OST is a valuable predictor to evaluate the efficacy of SRLs in patients with acromegaly, with the highest sensitivity and specificity when the cutoff value is 90.71%.

Heart sound classification based on sub-band envelope and convolution neural network / 生物医学工程学杂志

Automatic classification of heart sounds plays an important role in the early diagnosis of congenital heart disease. A kind of heart sound classification algorithms based on sub-band envelope feature and convolution neural network was proposed in this paper, which did not need to segment the heart sounds according to cardiac cycle accurately. Firstly, the heart sound signal was divided into some frames. Then, the frame level heart sound signal was filtered with Gammatone filter bank to obtain the sub-band signals. Next, the sub-band envelope was extracted by Hilbert transform. After that, the sub-band envelope was stacked into a feature map. Finally, type Ⅰ and type Ⅱ convolution neural network were selected as classifier. The result shown that the sub-band envelope feature was better in type Ⅰ than type Ⅱ. The algorithm is tested with 1 000 heart sound samples. The test results show that the overall performance of the algorithm proposed in this paper is significantly improved compared with other similar algorithms, which provides a new method for automatic classification of congenital heart disease, and speeds up the process of automatic classification of heart sounds applied to the actual screening.

Effects of orlistat and metformin on metabolism and gonadal function in overweight or obese patients with polycystic ovary syndrome / 中华内科杂志

The aim of this study was to assess the effects of orlistat or metformin treatment on lipid and glucose metabolism, and gonadal function in obese/overweight women with polycystic ovary syndrome (PCOS). A total of 39 patients diagnosed with PCOS were randomly (digital table method) divided into orlistat treatment group (20 cases) and metformin treatment group (19 cases). Compared with those before, treatment with either orlistat or metformin significantly reduced body weight, body mass index (BMI), hip circumferences, and serum insulin levels of the PCOS patients both at the end of 3 months and 6 months ( P<0.05). No significant differences could be viewed between orlistat and metformin treated subjects. Moreover, orlistat treatment significantly lowered the levels of low-density lipoprotein cholesterol, total cholesterol, fasting blood glucose, and homeostasis model assessment-insulin resistance (HOMA-IR) ( P<0.05), while there were no significant changes in above parameters with metformin treatment. The improvement of menstrual cycle was observed after 6-month treatment in both groups ( P<0.05). However, changes in polycystic ovarian morphology by ultrasound were only observed in orlistat treated group. In conclusion, orlistat is comparable with metformin in weight loss and improvement of insulin resistance and menstrual cycle, and is superior to metformin in improvement of lipid metabolism in overweight/obese PCOS patients.

Changes in platelet related parameters in obese patients after sleeve gastrectomy / 中华内科杂志

To compare changes in platelet related parameters in obese patients before and after sleeve gastrectomy (SG), we retrospectively analyzed the clinical data of 31 obese patients who underwent SG in Peking Union Medical College Hospital from December 2012 to September 2020. Results showed that compared with those before surgery, platelet count (PLT) decreased significantly at 2-12 weeks of follow-up ( P=0.009), while platelet distribution width (PDW), mean platelet volume (MPV), and large platelet ratio (P-LCR) increased significantly at the same periods of follow-up after operation ( P<0.001). However, the levels of PDW, MPV, and P-LCR began to decrease at 16-55 weeks when compared with those at 2-12 weeks of follow-up ( P<0.01). PLT was positively correlated with white blood cells and neutrophils at 2-12 weeks of follow-up and positively correlated with high sensitivity C-reactive protein at 16-55 weeks of follow-up after operation ( P<0.05).

Clinical and pathological features of 166 patients with nonfunctioning pituitary adenomas / 中华内分泌代谢杂志

Objective:To investigate the clinical features and pathological classification of patients with nonfunctional pituitary adenomas(NFPAs)in single medical center according to 2017 World Health Organization.Methods:The clinical and pathological characteristics of 166 patients with NFPAs diagnosed by neurosurgery in Peking Union Medical College Hospital from April 2019 to January 2020 were analyzed retrospectively.Results:In 166 patients, the ratio of male to female was almost equal(1.05∶1). Their average operation age was(49.9±12.3) years, which was significantly higher than that of functional pituitary tumor patients in the same period. Headache, visual acuity decline, and visual field defect were the most common causes for the first visit. All the maximum diameter of tumors was more than 10 mm, and 15 cases(9.0%)were giant tumors. 18 patients(10.8%)were recurrent cases. According to the results of immunohistochemistry for anterior pituitary hormones and transcriptional factors, the most common pathological type was gonadotroph adenomas(50.6%), followed by corticotroph adenomas(24.7%), plurihormonal pituitary adenomas(11.4%), PIT-1-positive adenomas(6.6%), and null cell adenomas(6.6%). Gonadotroph adenomas were more common in men(male∶female ratio=4.1∶1), while corticotroph adenomas occurred mainly in women(male∶female ratio=1∶12.7). The average age of patients with gonadotroph adenomas was the highest, while those of patients with PIT1-positive adenomas and rare combining IHC plurihormonal pituitary adenoma were significantly lower than that of the former. There were no significant differences in the mean diameters of tumors, the proportion of giant adenomas, and recurrent cases among different pathological types of tumors. However, the mean Ki-67 index of PIT-1-positive adenomas was significantly higher than those of other groups( P=0.001). Conclusion:Although the clinical manifestations of NFPAs were similar, their pathological classifications were different. Gonadotroph adenomas occurs mainly in male patients while corticotroph adenomas is more common in women. The prognosis may be different among various pathological types of NFPAs.

McCune-Albright syndrome associated with growth hormone-prolactin pituitary adenoma in 4 Chinese patients with literature review / 中华内分泌代谢杂志

Objective:To investigate the clinical characteristics of four McCune-Albright syndrome (MAS) patients associated with growth hormone(GH)-prolactin(PRL) pituitary adenoma, and explore more effective clinical treatment and management methods.Methods:The clinical data of four patients with MAS and GH-PRL pituitary adenoma diagnosed by Peking Union Medical College Hospital were retrospectively analyzed, including clinical manifestations, biochemical parameters, radiographic characteristics, as well as treatment and prognosis. Literature review was also conducted to analyze the efficacy of surgical operations and drug intervention.Results:Clinical characteristics: 3 females and 1 male, all of whom had onset before the age of 7 years. The types of fibrous dysplasia of bone were all polyosseous and involved craniofacial region. There were obvious gigantism/acromegaly manifestations in all cases, 3 cases had evident visual impairment and 1 case with optic chiasm compression. There was no spontaneous or triggered lactation in all 4 patients. Laboratory examination: GH and insulin-like growth factor-Ⅰ(IGF-Ⅰ) levels were significantly increased in 4 patients, GH levels were not inhibited by oral glucose tolerance test (OGTT), PRL levels were over 100 ng/ml, ALP levels were significantly increased in 4 patients, while serum calcium and phosphorus levels were remained normal. Imaging features: All pituitary adenomas in 4 patients were macroadenomas, with unilateral cavernous sinus enclosure in cases 2 and 3, and recurrence of macroadenoma with bilateral cavernous sinus enclosure in case 4 after the first operation. Four cases of skull CT showed multiple FD in craniofacial bone and skull base. Treatment and outcome: All 4 patients underwent pituitary adenoma resection and bisphosphonate therapy, and somatostatin analogues, dopamine receptor agonists and other treatments were selected according to the situation. Two patients with early diagnosis and initial treatment achieved partial remission after treatment, while the other two patients did not.Conclusions:Patients with MAS and GH-PRL pituitary adenoma had earlier onset age and were more likely to suffer from optic nerve damage. Early diagnosis and reasonable surgical treatment may help to improve biochemical indicators (GH, IGF-Ⅰ, and PRL, etc.) rapidly, and combined drug therapy (somatostatin analogues and dopamine receptor agonists) can better maintain or close to normal biochemical indicators, and ultimately improve the prognosis of patients.

Segmentation of heart sound signals based on duration hidden Markov model / 生物医学工程学杂志

Heart sound segmentation is a key step before heart sound classification. It refers to the processing of the acquired heart sound signal that separates the cardiac cycle into systolic and diastolic, etc. To solve the accuracy limitation of heart sound segmentation without relying on electrocardiogram, an algorithm based on the duration hidden Markov model (DHMM) was proposed. Firstly, the heart sound samples were positionally labeled. Then autocorrelation estimation method was used to estimate cardiac cycle duration, and Gaussian mixture distribution was used to model the duration of sample-state. Next, the hidden Markov model (HMM) was optimized in the training set and the DHMM was established. Finally, the Viterbi algorithm was used to track back the state of heart sounds to obtain S

Clinical characteristics of pseudoachondroplasia and analysis of COMP gene mutation / 中华内分泌代谢杂志

Objective@#This article reported the clinical characteristics and gene mutations of two pseudoachondroplasia cases, and made a literature review in order to improve clinicians′ understanding of the disease.@*Methods@#Clinical features of two patients who were short stature accompanied with skeletal deformities were summarized, and they accepted whole exome sequencing. We also reviewed literature to summarize the clinical characteristics and known gene research progress of all reported Chinese pseudoachondroplasia cases.@*Results@#The two patients′ clinical characteristics were short limbdwarfism with skeletal deformity. Genetic results showed that there were two heterozygous mutations in the cartilage oligomeric matrix protein (COMP) gene of the two patients, c. 1417_1419delGAC and c. 1552G>A, respectively. Up to March 2019, a total of 58 cases of pseudoachondroplasia have been reported in China. The median height of these patients is -5.03 SDS. The clinical features include abnormal gait, short limbs, short fingers/toes, scoliosis, bracelet sign, ankle sign and other skeletal deformities. COMP is the pathogenic gene and mutations mainly located in calmodulin-like domains. The hotspot mutation is c. 1417_1419delGAC.@*Conclusions@#Pseudoachondroplasia is a kind of rare genetic disease characterized by short stature and skeletal deformities. The clinical and genetic characteristics of the disease were summarized, which may improve the early diagnosis rate.

Classification of heart sound signals in congenital heart disease based on convolutional neural network / 生物医学工程学杂志

Cardiac auscultation is the basic way for primary diagnosis and screening of congenital heart disease(CHD). A new classification algorithm of CHD based on convolution neural network was proposed for analysis and classification of CHD heart sounds in this work. The algorithm was based on the clinically collected diagnosed CHD heart sound signal. Firstly the heart sound signal preprocessing algorithm was used to extract and organize the Mel Cepstral Coefficient (MFSC) of the heart sound signal in the one-dimensional time domain and turn it into a two-dimensional feature sample. Secondly, 1 000 feature samples were used to train and optimize the convolutional neural network, and the training results with the accuracy of 0.896 and the loss value of 0.25 were obtained by using the Adam optimizer. Finally, 200 samples were tested with convolution neural network, and the results showed that the accuracy was up to 0.895, the sensitivity was 0.910, and the specificity was 0.880. Compared with other algorithms, the proposed algorithm has improved accuracy and specificity. It proves that the proposed method effectively improves the robustness and accuracy of heart sound classification and is expected to be applied to machine-assisted auscultation.

Diagnosis and treatment of one case of hypophysitis caused by PD-1 inhibitor / 中华内分泌代谢杂志

We reported a case of hypophysitis caused by a programmed death-1 ( PD-1) inhibitor. The patient was a 59-year-old female with metastatic malignant melanoma who participated in the phaseⅡclinical trial of a PD-1 inhibitor toripalimab. More than five months after the administration of toripalimab,she experienced fatigue, depression, nausea, and anorexia. Laboratory examinations showed mild hyponatremia, secondary adrenal insufficiency, and secondary hypothyroidism. MRI revealed the enlargement of her pituitary with obvious enhancement. The patient was diagnosed as hypophysitis caused by the PD-1 inhibitor and was given replacement therapy with physiological doses of corticosteroid and levothyroxine sodium. Her symptoms were then improved. MRI revealed that her pituitary size returned to normal after 8 weeks of treatment and remained stable during every 3-month follow-up. This case reminds us of the possibility of hypophysitis when patients suffere from fatigue and anorexia during the process of PD-1 inhibitor treatment. Correct diagnosis, proper therapy, and regular follow-up are important to ensure the patients' safety, and to improve their prognosis.

Expression of COL5A2 in bladder cancer tissues and its correlation with clinicopathological features and prognosis / 实用肿瘤学杂志

Objective The aim of this study was to investigate the expression of COL5A2 in bladder cancer tissues,and its correlation with clinicopathological features and prognosis. Methods A total of 144 patients with bladder cancer were enrolled in this study. Real-time fluorescence reverse transcription and immunohistochemistry were used to detect the expression of COL5A2 at levels of mRNA and protein in bladder cancer tissues and normal bladder tissues. The relationship between COL5A2 expression and clinico-pathological features and prognosis was analyzed. Results The expression of COL5A2 mRNA in the bladder cancer group was higher than that in the paracancerous group(P<0. 05). The positive rate of COL5A2 in the bladder cancer group was higher than that in the normal bladder tissues(P<0. 05). The expression of COL5A2 protein was not correlated with age( P>0. 05),positively associated with the TMN stage,pathological grade,tumor maximum diameter(≥5 cm),depth of invasion,lymph node metastasis,lymphatic vas-cular infiltration,and recurrence;the difference was statistically significant(P<0. 05). The 3-year survival rate and survival time in the COL5A2 negative group were significantly higher than those in the COL5A2 positive group(P<0. 05). The higher TMN stage,the higher pathological stage,the maximum diameter of the tumor(≥5 cm),the deeper infiltration depth,lymph node metastasis,lymphat-ic vascular infiltration,recurrence,the higher positive expression rate of COL5A2 protein. Conclusion COL5A2 is highly expressed in the bladder cancer tissues, which promotes the development of bladder cancer. Bladder cancer patients with low expression of COL5A2 can obtain a good prognosis.

Clinical characteristics of pseudoachondroplasia and analysis of COMP gene mutation / 中华内分泌代谢杂志

Objective This article reported the clinical characteristics and gene mutations of two pseudoachondroplasia cases, and made a literature review in order to improve clinicians' understanding of the disease. Methods Clinical features of two patients who were short stature accompanied with skeletal deformities were summarized, and they accepted whole exome sequencing. We also reviewed literature to summarize the clinical characteristics and known gene research progress of all reported Chinese pseudoachondroplasia cases. Results The two patients' clinical characteristics were short limbdwarfism with skeletal deformity. Genetic results showed that there were two heterozygous mutations in the cartilage oligomeric matrix protein (COMP) gene of the two patients, c.14171419delGAC and c.1552G>A, respectively. Up to March 2019, a total of 58 cases of pseudoachondroplasia have been reported in China. The median height of these patients is-5.03 SDS. The clinical features include abnormal gait, short limbs, short fingers/toes, scoliosis, bracelet sign, ankle sign and other skeletal deformities. COMP is the pathogenic gene and mutations mainly located in calmodulin-like domains. The hotspot mutation is c. 14171419delGAC. Conclusions Pseudoachondroplasia is a kind of rare genetic disease characterized by short stature and skeletal deformities. The clinical and genetic characteristics of the disease were summarized, which may improve the early diagnosis rate.

Rubia cordifolia L.aqueous extractreduces visceral fat mass of high fat diet-induced obese rats / 基础医学与临床

Objective To evaluate the effects of a traditional Chinese medicine Rubia cordifolia L.aqueous extract (RCAE) on body weight, fat mass and parameters of glucose and lipid metabolism in high fat diet (HFD)-induced obese rats and its mechanism.Methods pGL3-Enhancer-PPARγ2 (625 bp)-Luc plasmid, a luciferase reportergene expression plasmid containing PPARγ2 promoter was constructed and stably transfected 3T3-L1 preadipocytes were established.PPARγ2 promoter`s activities in these cells were detected after administration with different concentration (0.1 mg/L~1 000 mg/L) of RCAE or with 100 mg/L RCAE for different action time.PPARγ2 mRNA expression in human adipocytes were detected after administration with 100 mg/L RCAE.Meanwhile, HFD-induced obese rats were administrated with low or high dose RCAE to investigate the effects of RCAE on serum glucose, lipid and insulin levels, body weight, visceral fat mass and so on.Results 10 mg/L RCAE could increase luciferase expression in 3T3-L1 cells to 1.43 folds of that in control group (P<0.01) and it reached 3.24 folds of that in control group when the concentration of RCAE was 1000 mg/L (P<0.01).With the administration with 100 mg/L RCAE, the luciferase activity of 3T3-L1 cells peaked at 28 h where it was 2.72 folds of that in control group (P<0.01), and the expression of PPARγ2 mRNA in human adipocytes increased to 2.27 folds of that in control group (P<0.01).Compared with HFD group, low dose RCAE significantly reduced the fasting insulin level, HOMA-IR and visceral fat mass (P<0.05).Conclusions Low dose RCAE significantly reduces the visceral fat mass and ameliorates insulin resistance in HFD-induced obese rats.The potential mechanism may be explained by the stimulation of PPARγ2 promoter activities and the increased expression of PPARγ2 gene.