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Novel coronavirus Omicron variant infection can cause severe illness and even death in certain populations. Omicron variant infection may lead to systemic inflammatory response, coagulation disorder, multi-organ dysfunction and other pathophysiological changes, which are different from other Novel coronavirus variants to a certain extent, so therapeutic strategies should not be the same. The National Medical Center for Major Public Health Events invited experts in fields of infectious diseases, respiratory medicine, intensive care, pediatrics and fever clinic to develop this quick guideline based on the current best evidence and extensive clinical practices. This quick guideline aims to standardize the diagnosis and treatment of novel coronavirus Omicron infection, and to improve the disease management abilities of clinicians.
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Objective:To study the different effects of pre-pregnancy obesity (PO), excessive gestational weight gain (EGWG), pre-pregnancy obesity combined with excessive gestational weight gain (PO+EGWG) of maternal rats on glucose and lipid metabolism in neonatal offspring, and to explore the possible mechanisms.Methods:Animal models of PO, EGWG and PO+EGWG were established by feeding SD rats with high-fat diets at different periods. Thirty-six SD rats were randomly divided into four groups, with nine rats in each group. The control group had a normal diet before and during pregnancy. The PO group had a high-fat diet before pregnancy and a normal diet during pregnancy. The EGWG group had a normal diet before pregnancy and a high-fat diet during pregnancy. And the PO+EGWG group had a high-fat diet before and during pregnancy. The body weight of maternal rats before and during pregnancy and the birth weight of neonatal rats were recorded. Nine male neonatal rats in each group were selected, fasting blood glucose levels were detected by glucometer, fasting insulin levels were detected by enzyme-linked immunosorbent assay kit, hepatic triglyceride and cholesterol levels were detected by glycerol phosphate oxidase-peroxidase method, hepatic lipid deposition were observed by hematoxylin-eosin staining and oil red O staining. The mRNA levels of hepatic key genes in glucose metabolism pathway IR, IRS, AKT and lipid metabolism FASN, SREBP1c, PPARα were detected by reverse transcription-polymerase chain reaction analyses.Results:The pre-pregnancy weight of maternal rats in high-fat diet group before pregnancy (PO group and PO+EGWG group) was significantly higher than those in normal diet group (control group and EGWG group). The percentage of weight gain of maternal rats in high-fat diet group during pregnancy (EGWG group and PO+EGWG group) was significantly higher than those in normal diet group (control group and PO group) ( P<0.05). The birth weight of neonatal rats in PO group, EGWG group and PO+EGWG group were significantly higher than that in control group ( P<0.05), and the birth weight of neonatal rats in PO+EGWG group was the largest. The fasting glucose, insulin level and insulin resistance index of newborn rats in PO, EGWG and PO+EGWG groups were higher than those in the control group, and the mRNA levels of IR, IRS and AKT were lower than those in the control group, but the differences were not statistically significant ( P>0.05). The hepatic triglyceride and cholesterol contents and mRNA levels of FASN and SREBP1c were higher in the EGWG and PO+EGWG groups than those in the control group, and the mRNA level of PPARα was higher in the PO+EGWG group than in the control and PO groups, with statistically significant differences ( P<0.05). Conclusions:Animal models of PO, EGWG and PO+EGWG were successfully constructed by feeding SD rats with high-fat diets before pregnancy, during pregnancy, before and during pregnancy. PO+EGWG had the most significant effects on the birth weight and glucose and lipid metabolism in neonatal offspring. Compared with EGWG, PO had a relatively significant effect on glucose metabolism in neonatal offspring. And compared with PO, EGWG had a relatively significant effect on lipid metabolism in neonatal offspring. The effects of maternal obesity on glucose and lipid metabolism in neonatal offspring were considered to be related to the expression changes of genes in glucose and lipid metabolism.
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Central precocious puberty (CPP) is a common pediatric endocrine disease caused by premature activation of the hypothalamic-pituitary-gonadal axis, featured by rapid development of internal and external reproductive organs and secondary sexual characteristics in girls before age 8 and boys before age 9.The gonadotropin-releasing hormone analogue (GnRHa) is the first choice for the treatment of CPP.Currently, 3.75 mg/ month sustained -release short-acting dosage form (1M depot formulations) is the most commonly used in China.The development of long-acting dosage form will reduce injection times and clinic visits.At present, the 3-month long-acting dosage form (11.25 mg 3M depot formulations) of Leprorelin microsphere has been approved in China.However, clinical practice experience of 3-month Leuprorelin acetate depot formulations is lacking in China.Therefore, in this paper, existing clinical evidence for this dosage form was reviewed to provide evidence-based medicine support for its clinical application.
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Objective:A rat model of excessive gestational weight gain (EGWG) was constructed to investigate the impact of EGWG on fetal hepatic lipid metabolism and the relevant regulatory mechanism.Methods:Healthy Sprague-Dawley rats were caged together and tested for pregnancy.Rats with the sperm observed under microscope were considered pregnant for 0.5 days.Pregnant rats were divided into the normal diet (ND) group and high-fat diet (HFD) group by the random number table method, with 8 rats in each group.The body weight during pregnancy of the pregnant rats was recorded.Cesarean section was performed at day 21.5 of gestation and the birth weight of the fetal rats was recorded.Hepatic lipid deposition of the pregnant and fetal rats was examined by hematoxylin-eosin (HE) staining and oil red O staining.Triglyceride (TG) and cholesterol (TC) levels in livers and serum of the pregnant and fetal rats were detected by glycerol phosphate oxidase-peroxidase(GPO-PAP) method.The mRNA and protein expression levels of key genes FASN and SREBP1c in hepatic lipid metabolism of fetal rats were measured by real-time polyme-rase chain reaction (RT-PCR) and Western blot.Differences between the two groups were compared by independent sample t test. Results:There was no difference in pre-pregnancy body weight between the HFD group and the ND group, but the differences in the weight and the weight gain during pregnancy gradually enlarged between the two groups.At day 21.5 of gestation, the weight of the pregnant rats[(467.75±22.05) g vs.(430.88±18.80) g, t=-3.600, P=0.003], the weight gain of the pregnant rats during pregnancy[(181.50±9.68) g vs.(148.50±10.86) g, t=-6.415, P<0.001] and the birth weight of the fetal rats[(5.51±0.17) g vs.(4.85±0.35) g, t=-4.779, P<0.001] of the HFD group were significantly higher than those of the ND group.Both HE staining and oil red O staining presented increased hepatic lipid deposition in the pregnant and fetal rats of the HFD group.The hepatic and serum TG and TC levels of the pregnant and fetal rats of the HFD group were significantly higher than those of the ND group (all P<0.05). RT-PCR and Western blot showed that the mRNA and protein levels of key genes FASN and SREBP1c in hepatic lipid metabolism of fetal rats of the HFD group were significantly higher than those of the ND group (all P<0.05). Conclusions:An EGWG model can be successfully constructed by a 21-day HFD during pregnancy.EGWG can lead to hepatic lipid deposition in the fetal rats.The mechanism may be related to the expression changes of key genes FASN and SREBP1c in hepatic lipid metabolism of fetal rats.
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Objective:To summarize and analyze the clinical features of McCune-Albright syndrome (MAS) in 26 children, to improve the understanding of MAS diagnosis and treatment, and to achieve early clinical diagnosis of MAS.Methods:The clinical data of 26 children with MAS treated in Department of Pediatrics, Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology from August 2011 to June 2021 were retrospectively analyzed.Their clinical characteristics were summarized and studied. t-test, Mann- Whitney U test, χ 2 test or Fisher′ s exact probability method was used for comparison between groups. Results:(1) Among the 26 MAS patients enrolled, there were 22 females and 4 males.The average onset age of female and male patients was (5.87±2.94) years old and (7.48±3.36) years old, respectively.(2) In female patients, there were 7 cases with the typical triad and 15 cases with the atypical triad.(3) Female patients had the first symptom of vaginal bleeding (8/22) and breast development (14/22). Among the 4 male children, 1 case had " fracture" and 3 cases " lagged behind their peers in height" at the first visit.(4) Compared with the breast development group, the vaginal bleeding group had an earlier onset age[(4.06±1.88) years old vs.(7.82±1.82) years old] ( t=5.023, P<0.001), earlier bone maturation[(1.26±0.07) vs.(1.09±0.13)] ( t=2.933, P<0.05), a greatly lowered predicted adult height[(-2.16±0.98) SDS vs.(-0.96±1.09) SDS]( t=1.352, P<0.05), a lower blood phosphorus level[(1.41±0.14) nmol/L vs.(1.67±0.24) nmol/L] ( t=1.941, P<0.05), and a significantly elevated alkaline phosphatase level[339(313, 656) U/L vs.243(205, 452) U/L] ( U=1.000, P<0.05). All patients (8 cases) in the vaginal bleeding group had fibrous dysplasia of bone.(5) Ten patients progressed to central precocious puberty (CPP). They showed an older average age of onset[(7.27±2.69)years old vs.(4.69±2.68)years old] ( U=44.000, P<0.05), significantly earlier bone maturation at diagnosis[(1.23±0.11) vs.(1.01±0.13)] ( t=1.834, P<0.05), and a lower predicted adult height[(152.00±4.62) cm vs.(162.10±6.91) cm] ( t=3.805, P<0.05), compared with those who did not progress to CPP.(6) Eleven children developed polyostotic fibrous dysplasia of bone, and most common type (8 cases) was polyostotic fibrous dysplasia of bone, primarily at lower limb bones and skulls.(7) Of the 26 children, 20 cases had scattered Café au lait pigments on the skin.The Café au lait pigmented skin lesions in 35% (7/20) cases crossed the midline. Conclusions:With complicated clinical manifestations, MAS is more common and occurs earlier in girls than boys.It is difficult to clinically diagnose MAS in boys due to the insidious onset and atypical symptoms.Female MAS patients with vaginal bleeding as the first symptom usually have an early age of onset, advanced bone age and lower predicted adult height, so they should be monitored and evaluated clinically.Vaginal bleeding is significantly associated with polyostotic fiber dysplasia of bone in MAS patients.Therefore, it is recommended that patients with vaginal bleeding should undergo a routine bone single-photon emission computed tomography scan.This helps understand the situation of occult fiber dysplasia of bone.Patients with later diagnosis and advanced bone age should be aware of the possibility of progression to CPP.
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Since 2010, the incidence of severe fever with thrombocytopenia syndrome (SFTS) has been increased. Owing the progress in diagnosis and treatment, the overall mortality of SFTS in China has decreased, while the mortality in critical SFTS patients is still high. In order to provide guidance and working procedures for clinicians to diagnose and treat critical SFTS, the National Medical Center for Major Public Health Events invited experts to discuss and formulate this consensus based on their experience and up-to-date knowledge on SFTS.
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McCune-Albright syndrome is a clinical syndrome characterized by the triad of polyostotic fibrous dysplasia, precocious puberty, and café-au-lait skin macules.McCune-Albright syndrome is a rare guanine nucleotide-binding protein disease(G-protein disease), and was firstly described by Donovan McCune and Fuller Albright in 1936 and 1937.With the deepening of the understanding of this disease, more and more children have been clearly diagnosed.Early diagnosis and appropriate treatment are especially important in improving the final adult height and the quality of life.The application of bisphosphonates in the treatment of polyostotic fibrous dysplasia is currently advocated, but the long-term safety and effectiveness are not clear.There are some therapeutic strategies for precocious puberty, but the optimal one is not clear.This review elaborates on the pathogenesis, clinical manifestations, diagnosis and treatment of McCune-Albright syndrome, especially the treatment of polyostotic fibrous dysplasia and precocious puberty.
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Neonatal inherited metabolic diseases (IMD) screening has been widely conducted worldwide. Tandem mass spectrum (MS/MS) is the main procedure of IMD screening. As a new technique, gene sequencing has been put into practice for IMD screening. Nowadays, the morbidity and disease spectrum of IMD in China is still unclear. A summary of general and single morbidity, and disease spectrum of China's IMD from publications of MS/MS screening could provide evidence for establishing neonatal IMD's genetic test and formulation of laws and regulations.
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Objective:To study the clinical features of children with Prader-Willi syndrome(PWS).Methods:Eighteen cases of PWS were collected from July 2016 to November 2018 in Shenzhen Maternal and Child Healthcare Hospital, Southern Medical University.The clinical data of children with PWS were analyzed retrospectively.Results:There were 12 males and 6 females in 18 cases with PWS.The diagnosis age ranged from 25 days to 9.5 years old [(3.09±3.02) years old]. Among them, 11 cases were in infancy (≤3 years old) and 7 cases after infancy (>3 years old). The main clinical features of infants with PWS were 11 cases of gonadal dysplasia (100.0%), 11 cases of psychomotor retardation (100.0%), 10 cases of hypotonia (90.1%), 6 cases of feeding difficulty and weak cry (54.5%). After infancy the main clinical features included 7 cases of psychomotor retardation (100.0%), 5 cases of hyperphagia(71.4%), 5 cases of obesity (71.4%), 5 cases of abnormal behavior problems (71.4%) and 4 cases of visual problems (57.1%). The clinical features of all patients throughout the developmental stage were as follows: decreased fetal movement, hypoplasia, neonatal hypotonia, weak cry, feeding difficulty, psychomotor delay, hyperphagia, obesity, abnormal behavior problems, and so on.Conclusions:The clinical features of PWS vary with age.The main clinical features in the infancy are hypotonia, weak cry, difficulty feeding and gonadal dysplasia.After infancy, there are hyperphagia, obesity, behavior and visual problems.And psychomotor retardation is present in the whole developmental stage of children with PWS.Early diagnosis and treatment are important for improving the prognosis of PWS.
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Objective@#To analyze the clinical characteristics of one living-related kidney transplant recipient infected with 2019 coronavirus disease (COVID-19) .@*Method@#The clinical diagnosis and treatment of one relative renal transplant recipient after the occurrence of COVID-19 were analyzed retrospectively, including the course of onset, clinical manifestations, blood routine test, renal function, lung CT scan, nucleic acid detection, outpatient and inpatient therapies and outcomes.@*Result@#The case was diagnosed as COVID-19 (severe type) with influenza A virus infection. The clinical symptoms were gradually relieved and the lung lesions were absorbed through the treatment of reduce and stop taking immunosuppressant, antiviral therapy of abidol/oseltamivir, prevention of bacterial infection, hormone anti-inflammatory, oxygen inhalation, nutritional support and adequate rest.@*Conclusion@#This case present typical characteristics of COVID-19 in epidemiological investigation, clinical manifestation, examination, pulmonary imaging and etiology. After comprehensive treatment including reduce and stop immunosuppressive therapy, clinical cure was achieved. The long-term effect of COVID-19 on this immunosuppressive patient remains follow-up.
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Objective:To explore the clinical characteristics of one living-related kidney transplant recipient infected with 2019 coronavirus disease(COVID-19).Methods:The clinical diagnosis and treatment of one living-related kidney transplant recipient after the occurrence of COVID-19 were analyzed retrospectively. Course of onset, clinical manifestations, laboratory and image enamination, outpatient and inpatient therapies and outcomes.Results:The renal transplant recipient was diagnosed as COVID-19(severe) with influenza A virus infection based upon epidemiological survey, clinical manifestations, laboratory examinations, imaging findings and etiological tests. The clinical symptoms were gradually relieved and lung lesions became absorbed after tapering and withdrawing immunosuppressants, antiviral therapy of abidol/oseltamivir, antibiotic therapy, hormonal anti-inflammation, oxygen inhalation, nutritional supports and adequate rest.Conclusions:Living-related kidney transplant recipients have specific immunosuppressive states.The long-term effect of covid-19 on recipients should be determined through long-term follow-ups.
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Objective@#To investigate the preventive effect of resin infiltration and adhesive on early erosive enamel wear.@*Methods@#Orthodontic reduction premolars collected from Central Laboratory of Nanjing Stomatological Hospital, Medical School of Nanjing University were used to prepare 70 specimens. Forty samples were divided into eight groups (n=5) and treated with different conditions (pH=1.6, 2.4, 3.2 or 4.0 hydrochloric acid solution, etching time was 30 or 60 s), and the conditions for obtaining early erosive enamel samples were selected. Based on this procedure, thirty early erosive enamel samples were made and divided into three groups: control group, resin infiltration group, and adhesive group. And the treatment of 30 days acid abrasion cycle was carried out. Confocal microscopy was used to measure the thickness changes of enamel or material before and after cycle.@*Results@#Early erosive enamel samples was obtained when pH was 4.0 and etching time was 60 s. After 30 days cycle, the wear of enamel was (29.71±6.72) μm in control group, (5.60±2.24) μm in resin infiltration group and (2.89±1.03) μm in adhesive group. In infiltration group and adhesive group, lower enamel was not affected by the cycle, and the material loss ratios of the infiltration resin group and adhesive group were 0.41±0.14 and 0.29±0.13, respectively. The ratio of material loss was not significantly different (P>0.05). But infiltration group lost (12.95±2.22) μm of enamel during the application of the material.@*Conclusions@#Resin infiltration and adhesive have the same short-term protective effect against early erosive enamel wear. Adhesive has less damage to enamel and better effect.
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Objective@#To investigate the molecular mechanism of poor response of nucleoside and interferon therapy in some patients with chronic hepatitis B (CHB) and the negative regulatory factor of suppressor of cytokine signaling 3 (SOCS3) expression in the interferon-signaling pathway. Also, study the clinical relationship between SOCS3 and antiviral efficacy of nucleoside and interferon.@*Methods@#Peripheral blood and matched liver tissue samples from 54 CHB patients who participated in the OSST study were selected. HBsAg was measured at different time points (baseline and weeks 12, 24, 36, and 48) to observe the antiviral efficacy. Meanwhile, quantitative real-time PCR, and immunohistochemistry were used to detect the expression levels of SOCS3 mRNA in peripheral blood mononuclear cells (PBMCs) and matched liver tissues (baseline and 48 weeks). At the end of the 48-week treatment, patients with HBsAg negative or HBeAg seroconversion were defined as response group, and vice versa. Paired t-tests were used to compare normal distribution variables and the Mann-Whitney U test was used to compare the median differences between groups of non-normally distributed variables.@*Results@#After 48 weeks of treatment, serum HBsAg levels in the Peg-IFN group continued to decline (average decrease of 1.14 log10 IU / ml at week 48; P = 0.001 compared with baseline), while the entecavir group remained almost unchanged during treatment (average decrease was 0.05 log10 IU / ml at week 48; compared with baseline P = 0.12). The expression of SOCS3 mRNA (Messenger RNA, mRNA) in peripheral blood and liver tissues of non-responder group was significantly higher than the response group in the course of Peg-IFNα2a treatment. The immunohistochemical results of liver tissue showed that the expression of SOCS3 in the non-responder group was significantly higher than that in the response group at baseline (P = 0.027). After 48 weeks of treatment with Peg-IFNα2a, the expression of SOCS3 in the non-responder group was significantly higher than that in the baseline and response groups (P = 0.003, P = 0.012, respectively).@*Conclusion@#The expression of SOCS3 in peripheral blood mononuclear cells and liver tissues of non-responding CHB patients was significantly higher than that of responding CHB patients during interferon and nucleoside antiviral therapy. We speculated that SOCS3 might affect the antiviral efficacy through negative regulation of JAK-STAT signaling pathway, and partly expose the mechanism of interferon resistance.
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Objective@#To study the clinical value of transcatheter arterial chemoembolization (TACE) therapy for hepatocellular carcinoma with blood supply from right adrenal artery.@*Methods@#An imaging and clinical data of HCC patients with blood supply from right adrenal artery were collected from 2012 to 2016 after TACE treatment in the Second Affiliated Hospital of Chongqing Medical University and the safety and therapeutic efficacy of complete embolization therapy was analyzed retrospectively.@*Results@#Twenty hepatocellular carcinoma patients with blood supply from right adrenal artery had received 23 times treatment. All lesions had invaded and protruded from the exogenous development of liver capsule. There were 14 cases with lesions > 5 cm in diameter. Right adrenal artery was found to be involved in the blood supply of three cases of hepatocellular carcinoma during TACE treatment for the first time. In addition, the remaining 17 cases had also received TACE treatment for the second to sixth time. The superior, middle, and inferior adrenal arteries were involved in 13, 3, and 9 cases, respectively. Twenty-four right adrenal arteries (96.0%) superselectively cannulated were successfully embolized without any serious complications. The standard method for evaluating the efficacy of liver cancer in 20 solid tumors follow-up cases showed that three cases were completely relieved, nine cases were partially relieved, two cases were stable, and six cases were progressive. The effective rate of embolization with blood supply from right adrenal artery lesions was 60.0%, and the control rate of lesion development was 70.0%.@*Conclusion@#The right adrenal artery is mainly located in the S5-S7 segments of the liver. TACE features are obvious to ascertain its safety and effectiveness in the treatment of right adrenal artery tumors.
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Objective@#To analyze the clinical data, karyotype, growth hormone receptor (GHR) exon 3 polymorphism, etc. in Turner syndrome before and after recombinant human growth hormone (rhGH) treatment, and thereby to understand the related factors influencing the rhGH curative effect in children with Turner syndrome.@*Methods@#This was a retrospective study of 31 cases with Turner syndrome who were treated with growth hormone for more than 1 year in the pediatric outpatient department of Tongji Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology from January 2010 to January 2017. The GHR Exon3 polymorphism was detected by PCR assay, Turner syndrome children were divided according to GHR exon3 genotype for homozygous for the full-length GHR isoform (fl/fl-GHR)and carriers of one or two copies of the GHR exon3 allele(fl/d3-GHR;d3/d3-GHR).According to the karyotype, the children were divided into 45,X karyotype group and other karyotype group. The height standard deviation (Ht-SDS) and growth velocity (GV) as indicators to measure rhGH treatment efficacy, the data were analyzed by the SPSS12.0 software (t test, one-way ANOVA and multiple linear regression analysis).@*Results@#(1) The mean age at diagnosis of 31 cases was (12.2±2.9) years, the bone age was (8.9±2.4) years, the height was (126.2±10.5) cm and the Ht-SDS was (-3.5±1.3) SDS. The karyotype was 45,X in 14 patients, 17 cases had other karyotypes. Thirteen cases were of (fl/fl-GHR) (42%), 14 cases of fl/d3-GHR (45%) and 4 cases of d3/d3-GHR(13%).Among the 31 cases, the main reason for 5 patients' hospitalization was no secondary sexual characteristics, another 26 cases had short stature (accounting for 81%).(2) After Growth hormone treatment, growth rate (cm/year)(7.3±1.4, 7.0±3.0, 7.0±1.3) and Ht-SDS (-2.8±1.2, -2.5±0.9, -2.2±0.8) were significantly higher than the pre-treatment levels (2.9±0.9, -3.5±1.3), the difference was statistically significant (F=54.12, 4.43, P<0.05) ; the third year Ht-SDS(-2.2±0.8)higher than the first year Ht-SDS(-2.8±1.2), the difference was statistically significant (t=-2.3, P<0.05) .(3)Before rhGH treatment, the height of 45,X karyotype group was significantly lower than that of other karyotypes ((122.1±9.1) cm vs. (129.9±10.3) cm, t=-2.2, P<0.05)). Before and after rhGH treatment, there was no significant difference in growth rate (cm/year) and Ht-SDS, between 45, X karyotype group and other karyotype group, but with the prolongation of treatment time, the Ht-SDS of other karyotype groups had an improvement trend compared with the 45,X karyotype groups. (4) After short-term and long-term treatment with rhGH, there were no significant differences in GV, Ht-SDS between patients with different genotypes (P>0.05). (5) Multivariate linear regression analysis showed that ΔHt-SDS was negatively correlated with the age at initial treatment(partial regression coefficient=-0.098, P <0.05), and positively correlated with GV before treatment(partial regression coefficient=0.202, P<0.05).@*Conclusions@#In Turner's syndrome children, the earlier the rhGH treatment started, the faster the growth rate before treatment and the longer treatment duration, the better effect of rhGH treatment was obtained. Before rhGH treatment, the height of 45,X karyotype group was significantly lower than that of other karyotypes. Before and after rhGH treatment, there was no significant difference in growth rate (cm/year) and Ht-SDS, but with the prolongation of treatment time, the Ht-SDS of other karyotype groups had an improvement trend compared with the 45,X karyotype groups. GHR exon 3 polymorphism did not significantly affect the efficacy of rhGH in Turner syndrome children, but large-scale long-term studies are still needed.
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Objective@#To investigate the clinical and genetic characteristics of a Chinese boy with Verheij syndrome and review the literature.@*Methods@#The clinical and genetic data of a Chinese boy with Verheij syndrome, who was admitted to the Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in May 2017 were analyzed. Original papers on Verheij syndrome published up to January 2018 were retrieved at PubMed, Human Gene Mutation Database (HGMD), Online Mendelian Inheritance in Man(OMIM), CNKI and WanFang databases by using the key words "Verheij syndrome" and "PUF60" .@*Results@#The male patient (at the age of 14 years and 3 months) visited us because of growth retardation for 13 years. Atrial septal defect was repaired at the age 3. Congenital amblyopia and hyperopia were diagnosed at the age 4. On physical examination, serious growth retardation and delayed psychomotor development was noted. His height was 142.5 cm (-3.26 SDS). He had poor academic performance at school. Facial features included: webbed neck, hypertelorism, down-slanting palpebral fissures, long philtrum, thin upper lip, and high palate. Palmar crease was found in the right hand. His bone age was 10 years. Growth hormone stimulation test indicated partial growth hormone deficiency (growth hormone (GH) peak 6.63 μg/L). The level of insulin like growth factor 1 (IGF1) and insulin like growth factor binding protein 3 (IGFBP3) was lower than normal, 73.20 μg/L and 2 500 μg/L respectively. Abdominal ultrasound showed that the volumes of bilateral kidneys were small. The size of the left and right kidney was 8.5 cm × 3.3 cm and 8.4 cm × 4.3 cm respectively. Karyotype was normal (46, XY). MRI of pituitary showed partial empty sella turcica. Ten genes associated with Noonan syndrome (PTPN11, SOS1, RASA2, KRAS, RAF1, NRAS, SHOC2, BRAF, RIT1, A2ML1) were analyzed and no genetic mutations were found. Whole exome-sequencing analysis identified a de novo heterozygous frame shift mutation of PUF60 gene (c.931_934del, P.P.T 311Qfs*47). According to ACMG guidelines in 2015, the mutation is pathogenic and has not been reported in the above databases.@*Conclusions@#This is the first case report of Verheij syndrome caused by mutation of PUF60 gene in Chinese population. It is difficult to discriminate Verheij syndrome from Noonan syndrome, both have clinical manifestations such as severe growth retardation, psychomotor retardation, and congenital heart disease. In addition to Noonan syndrome, PUF60 genetic analysis was recommended for avoiding missed diagnosis with such clinical manifestations of patients.
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Objective To explore the clinical characteristics of acute calculous cholecystitis in over 80 years old patients.Methods A retrospective study was made on the clinical data of 71 cases diagnosed as acute calculous cholecystitis and receiving surgical treatment from Sep 2006 to Sep 2016.Patients were divided into three groups:Early LC group (25 patients),PTGD group (29 patients),the staged LC group (17 patients) after PTGD.Results There was statistically significant difference in the gallbladder wall thickness,operation time and blood loss between the two LC groups.There was no statistically significant difference between the two LC groups in other baseline data and hospital stay,hospital cost,rate of postoperational complication,rate of conversion to open procedure between the two LC groups.There was statistically significant difference between the early LC group and PTGD group in the baseline data.Logistic regression analysis indicated that the TG13 grade was an important influence factor for treatment selection of PTGD (OR=3.957,P=0.015,95％CI:1.30-12.043).Conclusion Laparoscopic cholecystectomy was safe for good risk over 80 years old patients.For poor risk patients,PTGD is recommended before a LC attempt.
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Objective To investigate the application value of ultrasound elastography and contrast enhanced magnetic resonance imaging (CEMRI) in assessing the effect of neoadjuvant chemotherapy (NAC) for T1-2 N1-2 M0 breast cancer.Methods Twenty-three cases of breast cancer operation and receiving preoperative NAC in Chongqing Municipal Tumor Institute from January 2015 to December 2016 were collected.They all underwent ultrasound elastography and CEMRI before the first time NAC and operation respectively.Results Based on the postoperative pathological response grading,the sensitivity and specificity of CEMRI for evaluating the NAC effect were 94.1 ％ and 83.3％ respectively,which of ultrasound elastography were 88.2％ and 83.3％ respectively.The two kinds of examination method showed medium consistency(Kappa values were 0.77 and 0.68 respectively).Conclusion Ultrasound elastography extends the ultrasound diagnostic basis,can more comprehensively display the lesion character and more effectively reflect the NAC effect.
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The relationship between vitamin D deficiency and idiopathic central precocious puberty (ICPP) has been recently documented. In this study, 280 girls diagnosed with ICPP and 188 normal puberty control girls of similar ages were enrolled and retrospectively studied. The ICPP group had significantly lower serum 25-hydroxyvitamin D (25[OH]D) levels than the control group. Furthermore, a nonlinear relationship was found between serum 25[OH]D and ICPP, and a cut-off point for serum 25[OH]D was found at 31.8 ng/ml for ICPP with and without adjusting the different confounding factors. Girls with serum 25[OH]D ≥ 31.8 ng/ml had a lower odds ratio (unadjusted: OR 0.36, 95% CI 0.15 to 0.83, P < 0.05; height and weight adjusted: OR 0.44, 95% CI 0.18 to 1.08, P = 0.072; BMI adjusted: OR 0.36, 95% CI 0.16 to 0.84, P < 0.05). The ICPP subjects with 25[OH]D deficiency had a higher body mass index (BMI) than the subjects from the two other subgroups. Correlation analysis showed that vitamin D level is correlated with BMI and some metabolic parameters in the ICPP group. Our study suggested that vitamin D status may be associated with ICPP risk and may have a threshold effect on ICPP.
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Child , Female , Humans , Body Mass Index , China , Linear Models , Logistic Models , Multivariate Analysis , Puberty, Precocious , Blood , Retrospective Studies , Vitamin D , Blood , Vitamin D Deficiency , EpidemiologyABSTRACT
Objective To explore the excitotoxic role of NMDA receptors in striatal neurons in glutaric aciduria type I (GA1). Methods A GA1 cell model was established by lentivirus-mediated shRNA to GCDH and excessive intake of lysine. The expression levels of NMDA receptors were determined by Western blotting. The striatal neurons were preprocessed by MK801(a NMDA receptor antagonist), then infected with lentivirus and cultured in high concentration lysine. Cell viability was measured using MTT. Apoptosis was assessed using Hoechst33342 staining. Results Compared with the control group, the expression of NR2B protein in the experimental group was increased, and there was statistical difference (P<0.001). The differentces in the cell viability and normal nuclear proportion among experimental group, control group, and MK-801 pretreatment group were statistically significant (P<0.01). The cell viability and normal nucleus proportion in experimental group were significantly lower than those in control group while they were significantly higher in MK-801 pretreated group than those in the experiment group but still significantly lower than those in control group (P all <0.05). Conclusion The accumulation of metabolites in GA 1 played a toxic role in striatal neurons through NMDR receptors.