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OBJECTIVE@#To detect the genetic variant of a child with cleidocranial dysplasia (CCD) and to find out the causation of the illness.@*METHODS@#Gene variant was identified by the second generation targeted sequencing and Sanger sequencing.@*RESULTS@#The gene sequencing revealed that the RUNX2 gene had c.196C>T(p.Glu66*) nonsense variant, which was predicted to be a pathogenic variant according to the ACMG guidelines(PVS1+PS2).@*CONCLUSION@#The variant of c.196C > T in the RUNX2 gene may be the cause of the child with CCD, and the novel variant enriches the RUNX2 gene variant spectrum.
Subject(s)
Child , Humans , Asian People/genetics , China , Cleidocranial Dysplasia/genetics , Core Binding Factor Alpha 1 Subunit/genetics , MutationABSTRACT
Objective:To observe the changes of macular morphology and blood flow after minimally invasive vitrectomy (PPV) in patients with severe non-proliferative diabetic retinopathy (sNPDR).Methods:A prospective clinical study. From January 2020 to April 2021, 17 consecutive sNPDR patients with 17 eyes who were diagnosed and received PPV treatment at the Zhongshan Ophthalmic Center of Sun Yat-sen University were included in the study. There were 12 males with 12 eyes and 5 females with 5 eyes; the average age was 55 years old; the average duration of diabetes was 11 years; the average glycosylated hemoglobin was 7.9%. Before the operation and 1, 3, and 6 months after the operation, all the affected eyes underwent best corrected visual acuity (BCVA), standard 7-field fundus color photography, and optical coherence tomography angiography (OCTA). An OCTA instrument was used to scan the macular area of the affected eye with in the range of 3 mm×3 mm to measure the central subfoveal thickness (CST), the thickness of the ganglion cell complex (GCC) in the macular area, the thickness of the retinal nerve fiber layer (RNFL), and the superficial capillary plexus (SCP) vessel density and perfusion density in the macular area, macular avascular zone (FAZ) area, a-circularity index (AI). Before the operation and 6 months after the operation, the least significant difference test was used for the pairwise comparison.Results:Before the operation, 1, 3, and 6 months after the operation, the FAZ area of the macular area were 0.34±0.14, 0.35±0.10, 0.37±0.10, 0.36±0.13 mm 2, respectively; AI were 0.52±0.13, 0.54±0.11, 0.57±0.10, 0.60±0.11; CST was 282.6±66.7, 290.4±70.9, 287.2±67.5, 273.2± 49.6 μm; GCC thickness were 77.1±15.5, 74.3±13.9, 72.6±16.2, 78.5±18.3 μm; the thickness of RNFL was 97.9±13.8, 101.3±14.6, 97.7±12.0, 96.1±11.4 μm, respectively. The overall blood flow density of SCP in the macula were (16.79±1.43)%, (16.71±1.82)%, (17.30±2.25)%, (17.35±1.22)%; the overall perfusion density were 0.32±0.02, 0.32±0.03, 0.33±0.03, 0.33±0.02, respectively. After the operation, the CST increased first and then decreased; the thickness of RNFL increased 1 month after the operation, and then gradually decreased. Comparison of the parameters before and 6 months after the operation showed that the AI improved, and the difference was statistically significant ( P=0.049); the difference in FAZ area and the thickness of CST, GCC, and RNFL was not statistically significant ( P=0.600, 0.694, 0.802, 0.712); There was no statistically significant difference in the retina SCP blood flow density and perfusion density in the macular area ( P=0.347, 0.361). Conclusion:Compared with before surgery, there is no significant change in macular structure and blood flow density in sNPDR patients within 6 months after minimally invasive PPV.
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Objective:To investigate the clinical efficacy of laparoscopic sleeve gastrec-tomy (LSG) in the treatment of obesity associated nonalcoholic fatty liver disease (NAFLD).Methods:The retrospective and descriptive study was conducted. The clinical data of 40 patients with obesity associated NAFLD who were admitted to Xijing Hospital of Digestive Diseases of Air Force Medical University from January 2018 to June 2019 were collected. There were 19 males and 21 females, aged (27±8)years. Patients underwent LSG after preoperative examinations and evaluations. Observation indicators: (1) surgical and postoperative conditions; (2) follow-up. Follow-up was conducted by telephone interview, WeChat, and outpatient review to detect the liver function, glucose and lipid metabolism-related status as well as the relief of comorbidities of patients at 6 and 12 months after LSG. The follow-up was up to June 2020. Measurement data with normal distribu-tion were represented as Mean± SD. Repeated measurement data were analyzed by the repeated measures ANOVA. Count data were represented as absolute numbers, and chi-square test was used for comparison between groups. Results:(1) Surgical and postoperative conditions: 40 patients underwent LSG successfully, without intraoperative conversion to laparotomy or death. The operation time, volume of intraoperative blood loss, and duration of postoperative hospital stay were (83±12)minutes, (19±7)mL and (3.7±0.7)days. Among the 40 patients, 1 case had fat liquefac-tion after LSG and 2 had abdominal distension within a month, who were improved after symp-tomatic and supportive treatment. (2) Follow-up: 40 patients were followed up at postoperative 6 and 12 months. The body mass of 40 patients was (112±17)kg, (85±16)kg, (73±11)kg before operation, at postoperative 6 and 12 months, respectively. The body mass index was (39.7±4.2)kg/m 2, (30.0±4.5)kg/m 2, (25.9±2.9)kg/m 2 before operation, at postoperative 6 and 12 months, respectively. The alanine aminotransferase was (56.40±39.51)U/L, (30.15±17.93)U/L, (26.45±9.44)U/L before operation, at postoperative 6 and 12 months, respectively. The aspartate amino-transferase was (34.03±19.62)U/L, (28.20±10.27)U/L, (24.90±8.44)U/L before operation, at post-operative 6 and 12 months, respectively. The gamma-glutamyltransferase was (48.68±28.45)U/L, (43.30±18.56)U/L, (32.80±12.09)U/L before operation, at postoperative 6 and 12 months, respectively. The fasting blood-glucose was (6.51±2.38)mmol/L, (5.64±1.51)mmol/L, (4.98±0.91)mmol/L before operation, at postoperative 6 and 12 months, respectively. The triglyceride was (1.81±0.95)mmol/L, (1.48±0.57)mmol/L, (1.17±0.44)mmol/L before operation, at postoperative 6 and 12 months, respectively. The total cholesterol was (4.77±0.98)mmol/L, (4.58±0.75)mmol/L, (4.10±0.68)mmol/L before operation, at postoperative 6 and 12 months, respectively. The low density lipoprotein cholesterin was (2.99±0.81)mmol/L, (2.79±0.54)mmol/L, (2.48±0.40)mmol/L before operation, at postopera-tive 6 and 12 months, respectively. The high density lipoprotein cholesterin increased was (1.08±0.20)mmol/L, (1.15±0.18)mmol/L, (1.45±0.21)mmol/L before operation, at postoperative 6 and 12 months, respectively. Compared with preoperative indicators, there were significant differences in postoperative body mass, body mass index, alanine aminotransferase, aspartate aminotransferase, gamma-glutamyltransferase, fasting blood-glucose, triglyceride, total cholesterol and low density lipoprotein cholesterin ( F=472.439, 533.730, 26.791, 11.029, 25.545, 27.994, 27.534, 36.220, 18.596, P<0.05), showing a downward trend. There was a significant difference between preoperative and postoperative high density lipoprotein cholesterin ( F=68.974, P<0.05), showing a upward trend. The excess weight loss of 40 patients at 6 months and 12 months after LSG were 61%±18% and 85%±15%. The preoperative ultrasonography of 40 patients showed no, mild, moderate and severe fatty liver in 0, 2, 15 and 23 cases, respectively. The above indicators were 8, 9, 12, 11 cases at post-operative 6 months, and 23, 11, 6, 0 cases at postoperative 12 months, respectively. There was a significant difference of the grade of NAFLD between patients before and after surgery ( χ2=68.210, P<0.05). Conclusion:LSG has an accurate short-term clinical efficacy for obesity associated NAFLD, which can reduce body mass, improve liver function, alleviat the disorders of glucose and lipid metabolism and the severity of medium-severe fatty liver.
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Objective:To investigate the clinical manifestations and characteristics of children infected with 2019 novel coronavirus (2019-nCoV) in Wuhan City.Methods:The clinical data of 146 children diagnosed with 2019 novel coronavirus infection by nasopharyngeal swab real-time reverse transcription polymerase chain reaction in Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 21 to February 24, 2020 were retrospectively analyzed. The basic data, clinical symptoms, laboratory examinations, pulmonary imaging, clinical classification, treatment medication and the prognosis of disease were included for analysis.Results:Among the 146 cases, 86 (58.9%) were males and 60 (41.1%) were females, with a median age of 6 years and 10 months.Three cases (2.1%) had a history of underlying diseases, 127 cases (87.0%) had a clear history of infected family clusters, and two cases (1.4%) had a history of exposure with Huanan Seafood Wholesale Market in Wuhan City. The clinical classifications included 20 asymptomatic cases (13.7%), 26 mild cases (17.8%), 99 ordinary cases (67.8%), and one critical case (0.7%). A total of 146 patients were tested positive for nasopharyngeal swabs by 2019-nCoV nucleic acid. Among them, 10 patients had a negative nasopharyngeal swab nucleic acid test before diagnosis, and one of them had a negative nasopharyngeal swab nucleic acid test for two consecutive times. The initial symptoms were mainly fever (59 cases, 40.4%) and cough (52 cases, 35.6%). Thirteen cases (8.9%) showed decreased leukocyte counts and three cases (2.1%) showed decreased lymphocyte counts. In addition, aspartate aminotransferase increased in 23 cases (15.8%), serum creatinine increased in seven cases (4.8%), lactic acid dehydrogenase increased in 26 cases (17.8%), and C reactive protein increased in 38 cases (26.0%). Fifty-nine cases (40.4%) were tested positive for IgM antibody to Mycoplasma pneumoniae. One hundred cases (68.5%) were abnormal in pulmonary imaging and 50 cases (34.2%) presented with multiple frosted glass shadows. All the 146 children were given general treatment, and the antiviral treatment was mainly interferon or interferon combined with oral medication. As of February 24, 2020, 72 cases (49.3%) were discharged from the hospital after reaching the de-isolation standard, with a median length of stay of 10 days, and there was no death case.Conclusions:Children with 2019-nCoV infection in Wuhan City are mainly caused by family aggregation. The clinical classification is mainly ordinary type, and the laboratory examination has no specificity. Specimens could be collected from multiple repeatable sites for 2019-nCoV nucleic acid test in suspected cases. Chest computed tomography has certain value for the diagnosis of children with 2019-nCoV infection. The recent prognosis of the patients is good with general treatment.
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Objective To study the value of serum human epididymal protein 4 (HE4) ,cytokeratin 19 frag-ment (CYFRA21-1) ,neuron-specific enolase (NES) and gastrin release precursors (Pro-GRP) in the diagnosis of female lung cancer .Methods A total of 100 cases of female lung cancer patients in the hospital were select-ed as the research object ,100 cases of benign lung diseases and 100 female health examiners as the control ,the serum levels of HE4 ,CYFRA21-1 ,NES and Pro-GRP were measured ,and the related statistical analysis was carried out .Results The serum levels of HE4 ,CYFRA21-1 ,NES and Pro-GRP in patients with lung cancer were significantly higher than those of benign lung disease and healthy control group (P<0 .05) ,and there was no significant difference between the benign lung disease group and the healthy control group (P>0 .05) . There was no significant difference in serum HE4 expression in different stages and pathological types of lung cancer (P>0 .05) .The ROC curve analysis showed that the area (AUC) of HE4 ,CYFRA21-1 and NES/Pro-GRP w ere 0 .927 ,0 .758 ,0 .652 and 0 .799 respectively ,and the best critical values w ere 63 .38 ,2 .05 ,14 .05 and 58 .50 respectively ,and the sensitivity was 88 .0％ ,80 .0％ ,60 .0％ ,71 .0％ respectively ,and the speci-ficity was 96 .0％ ,73 .0％ ,87 .0％ and 89 .0％ respectively .HE4 was obviously better than the other 3 items . Combined detection of HE4 ,CYFRA21-1 ,NES and Pro-GRP could also improve the diagnostic sensitivity of lung cancer ,which was 89 .0％ ,but the specificity had decreased by 88 .0％ .Conclusion The level of serum HE4 in female patients with lung cancer is significantly higher ,which can be used as a candidate marker for differential diagnosis of pulmonary benign and malignant diseases .The combined detection of these 4 markers has a high sensitivity for the diagnosis of female lung cancer ,which is suitable for the survey of female lung cancer in clinical .
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Objective To observe the clinical characteristics of infants with pertussis syndrome and the influence of gastroesophageal reflux (GER) on pertussis syndrome in small infants, and provide experience for improving curative effect. Methods ① The clinical data of 807 infants with pertussis syndrome treated at Wuhan Children's Hospital from January 2015 to June 2017 were retrospectively analyzed, in which their clinical characteristics including symptoms, signs and related physical and chemical examinations were summarized. ② Prospective randomized controlled trials were performed at the Children's Hospital of Wuhan from June 2017 to June 2018, there were 120 infants with ages < 6 months diagnosed as pertussis syndrome and simultaneously accompanied by gastric volvulus (GV) and GER, and they were randomly divided into a study group and a control group according to the date sequence of definite diagnosis, 60 cases in each group. The control group was given conventional medical treatment, while in the study group, additionally the infants received massage to restore gastric proper position and anti-reflux therapy. The clinical efficacies of two groups were observed. Results ① Retrospective analysis showed that clinically, pertussis syndrome commonly occurred in infants of ages < 6 months, accounting for 88.30% (713 cases); all cases had spastic cough, and 60.00% (484 cases) infants' coughing was severer at night. In laboratory examinations, 83.27% (672 cases) of the infants had elevated platelets (PLT), 25.03% (202 cases) had abnormal myocardial zymograms, and 70.38% (568 cases) had elevated white blood cells (WBC). In the pathogen examination, only were pathogens found in 34.8% infants, mainly single pathogen infection, accounting for 86.12%. Chest radiographs suggested 71.50% of infants with pneumonia, and 73.00% of infants with GER, among which 77.92% of infants were accompanied by GV. ② The prospective study showed that in the treatment of infants with pertussis syndrome accompanied by GV and GER, manual massage should be used timely to correct GV and simultaneously anti-reflux therapy should be given, in the aspects of time required to improve cough symptoms (days: 5.36±1.40 vs. 6.59±1.56, P < 0.01) and shortening of the hospital stay (days: 6.50±1.41 vs. 8.09±1.63, P < 0.01) in the study group were superior to those in the control group; the case of respiratory failure in the study group was lower than that in the control group [2 cases vs. 8 cases, P < 0.05]. Conclusions In pertussis syndrome, lymphocytes occupy the main proportion of WBC elevation that is an important differential criterion between pertussis syndrome and infantile pneumonia with gastric volvulus and gastroesophageal reflux. PLT elevation in pertussis syndrome suggests that attention should be paid to the elevation as that might be related to the disease prognosis. It is necessary to further investigate whether the positive pathogen discovered in the course of pertussis syndrome is a pathogenic one, and attention should also be paid to the medical examination of GV and GER in the small infants with pertussis syndrome, since early proper intervention to correct GV and GER can significantly improve their clinical efficacies.
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Objective To study the effects of early application of integrated traditional Chinese medicine (TCM)and western medicine and massage on the incidence and severity of pneumonia and prognosis in the therapeutic course of infants with cytomegalovirus(CMV)infection infantile cholestatic hepatopathy(ICH)accompanied by gastric volvulus(GV). Methods A prospective randomized controlled trial was conducted. 120 infants 1-6 months old with CMV infection ICH and complicated with GV inpatients were divided into treatment group and control group (each,60 cases). The TCM Lidanheji(consisting of artemisiae capillaris 30 g,weeping forsythia 30 g,Chinese goldthread 5 g,prepared rhubarb 5 g,unpeeled root of herbaceous peony 30 g,cassia 5 g,fruit of citron or trifoliate orange 10 g,large-headed atractylodes 10 g,fruit of Chinese magnoliavine 10 g,pangolin scale 3 g and licorice root 5 g)for oral administration or enema and ganciclovir intravenous injection were given to both groups. In the control group,based on the above treatment,postural and diet therapy,prokinetics(domperidone)were given in cases with GV. The massage treatment was only applied for treatment of GV in treatment group. The pneumonia in both groups was treated in accord to the conventional diagnosis and treatment for infantile pneumonia,bronchiolitis,severe pneumonia and the guide and management of infantile community acquired pneumonia. The total number of cases with pneumonia and its severity occurring before and after treatment in the course of the disease,the clinical therapeutic effects of ICH, GV and infantile pneumonia,the clinical physical signs,biochemical indexes and the time of hospitalization were observed and compared between the two groups. Results Compared with control group,after treatment the curative rate and total effective rate of ICH,GV,infant pneumonia in treatment group were significantly higher〔the curative rate of ICH:83.05%(49/59)vs. 71.93%(41/57),total effective rate:96.61%(57/59)vs. 91.23%(52/57);the curative rate of GV:72.88%(43/59)vs. 51.79%(29/56),total effective rate:96.61%(57/59)vs. 78.57%(44/56);the curative rate of infant pneumonia:81.08%(30/37)vs. 67.44%(29/43),total effective rate:100%(37/37)vs. 100%(43/43),P<0.05 or P<0.01〕. In the treatment group,the total number of cases with pneumonia occurring in the therapeutic course and the incidence of severe pneumonia were significantly less than those in the control group〔the occurrence of pneumonia:12 cases vs. 21 cases,the incidence of severe pneumonia:16.67%(2/12) vs. 42.86%(9/21),P<0.05 or P<0.01〕. The enlargement of liver and spleen,the level of total bilirubin(TBil), direct bilirubin(DBil),total bile acids(TBA)and alanine aminotransferase(ALT)in two groups after treatment were significantly lower than those before treatment,the changes being more marked in treatment group(P<0.05 or P<0.01). The time of stay in hospital in treatment group was remarkably shortened(days:21.32±3.26 vs. 27.38±6.09, P<0.05). Conclusion Early interference with combined TCM and western medicine and massage for treatment of infants with CMV infection ICH accompanied by GV can significantly decrease the incidence of pneumonia and its severity occurring in the disease course,therefore this therapeutic method is beneficial to the treatment and prognosis of infants with CMV infection ICH.
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Objective To explore the clinical features, characteristics of neuroimaging and prognosis of toxic encephalopathy induced by 1,2- Dichloroethane. Methods The clinical features,characteristics of neuroimaging and prognosis in eight cases with toxic encephalopathy induced by 1,2- Dichloroethane were analyzed retrospectively. Results In acute or subacute stage of toxic encephalopathy induced by 1,2- Dichloroethane, the whole brain injury symptoms and severe intracranial hypertension were the main neurological manifestations. CT and MR examination showed diffused encephaledema and brain swelling. DWI test showed the symmetric diffused low density lesions in white matter of cerebral hemisphere,and the average values of ADC decreased significantly. With the disease improving, the brain swelling was alleviated, the brain lesion foci reduced gradually, and the average values of ADC increased. The prognosis will be improved dramatically if sufficient mannitol, hormone and high pressure oxygen were used in the early stage. Conclusion The diagnosis of toxic encephalopathy induced by 1,2- Dichloroethane depends mainly on the clear toxicant contact history, clinical features and characteristics of neuroimaging. Taking effective measures in the early stage to control actively the encephaledema would be beneficial to the prognosis.
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Chronic microinflammatory state is common in the patients undergoing maintenance hemodialysis (MHD), which seriously affects the long-term survival rate of MHD patients. It is important to improve the microinflammatory state in MHD patients.
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Objective To investigate the accuracy for absolute quantification of brain creatine (Cr) concentration using long time echo (TE) point resolved spectroscopy (PRESS) sequence performed with an external standard and postprocessed with the linear combination of model spectra (LCModel).Methods Ten swine (3.1±0.6 kg) and an external standard phantom containing detectable compounds of known concentration were investigated in this study by using 1.5 T GE Signa scanner and a standard head coil. The single-voxel proton magnetic resonance spectroscopy (1H-MRS) data were acquired from the two ROIs (2 cm×2 cm×2 cm) placed in swine brain and external standard solution using PRESS sequence with TE 135 ms,TR 1500 ms,and 128 scan averages.The in vivo quantification of Cr was accomplished by LCModel.After 1H-MRS examination,each animal was sacrificed immediately.In vitro Cr concentration was analyzed by high performance liquid chromatography (HPLC).Results In the 1H-MRS group,the Cr concentration was (9.37±0.14)mmol/kg.In the HPLC group,the Cr concentration was (8.91±0.13)mmol/kg.Good agreement was obtained between these two methods (t=9.038,P=0.491).Conclusion The long echo time PRESS sequence performed with an external standard and processed with LCModel iS proven to be an accurate technique to detect the in vivo brain Cr concentration.
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@#目的观察以针灸为主结合按摩、康复训练等方法治疗儿童交通性脑积水的效果。方法 26例儿童交通性脑积水患者接受针灸、按摩、康复训练及引导式教育。结果26例患者,治愈 5例(随访4例)、显效4例、有效10例、无效7例,总有效率73.07%。结论以针灸为主结合康复训练等方法可改善儿童交通性脑积水患者的症状。