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Objective:To analyze the clinical features, treatment, and outcomes of fetal/neonatal atrial flutter (AFL) at the onset of the perinatal period to improve the management of this condition.Methods:This retrospective study analyzed the clinical data, treatment, and follow-up results of fetal/neonatal AFL cases transferred to Shanghai Children's Medical Center from November 2013 to August 2021. Clinical characteristics, cardioversion procedures, and outcomes were summarized. Descriptive method was used for statistical analysis.Results:A total of 21 fetuses/neonates presenting with AFL in the perinatal period were involved in this study, including 17 males and four females. Ten of them were born at full term, and 11 were preterms. All of the patients were delivered by cesarean section at 32 to 41 gestational weeks [ (36.6±1.9) weeks] with a birth weight of 2 130 to 4 450g [ (3 059±528) g]. Increased fetal heart rate was all detected after 32 weeks of gestation, and three of them were diagnosed with AFL by fetal echocardiography before being born. The heart rate remained elevated in all cases after birth. All were diagnosed as AFL based on an electrocardiogram on the day of birth, which showed a 2 to 6 over one ratio of atrioventricular conduction. Among the six cases of cardiac insufficiency and low blood pressure complicated by dyspnea and cyanosis, the symptoms were relieved in four cases after mask oxygenation and two cases after ventilation. Among the 21 cases, one was converted spontaneously to normal sinus rhythm and the other 20 recovered after medication or electrical cardioversion. Seven cases were initially treated by drug conversion with a success rate of 5/7 and hospitalized for 23 d (13-25 d). There was one with cardiac insufficiency before treatment and three newly developed cardiac insufficiency during treatment among the seven cases. Thirteen cases were offered electrical cardioversion initially, and the success rate of cardioversion was 12/13. There were five cases of cardiac insufficiency before treatment, while no new cases of cardiac insufficiency was reported during treatment. The duration of hospitalization was 11 d (9-14 d). Apart from one case, the rest 20 infants were followed up from one month to eight years old, and no recurrence was reported.Conclusions:For fetal/neonatal AFL with the onset during the perinatal period, the symptoms mainly manifest in late pregnancy. Its diagnosis depends on fetal echocardiography before birth or electrocardiogram after birth, and electrical cardioversion is a fast and effective measure. While the prognosis of perinatal-onset AFL is generally good.
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Objective:To learn about the epidemic situation and trend of human brucellosis in Menyuan Hui Autonomous County (referred to as Menyuan County) of Qinghai Province, and to provide reference for formulating brucellosis prevention and control measures in Menyuan County.Methods:Data on human brucellosis in Menyuan County reported by the Infectious Disease Reporting Information Management System of China Disease Control and Prevention Information System from 2013 to 2020 were collected and analyzed by descriptive epidemiological analysis (three distribution).Results:A total of 186 cases of brucellosis were confirmed from 2013 to 2020, with an average annual incidence of 14.553/100 000. The annual incidence rate was increasing year by year(χ 2trend = 22.08, P = 0.002). The cases were distributed in 67 villages of 12 towns; cases were more common in the age group of 15-< 65 years old (96.24%, 179/186), and there were more men than women cases (sex ratio was 3.89∶1.00, 148/38). Conclusions:The incidence rate of brucellosis cases in Menyuan County is increasing year by year, and the scope of its impact is constantly expanding. A multi-sectoral joint prevention and control mechanism should be established to strengthen management, increase the prevention and control of brucellosis, and stop the spread of the epidemic to surrounding counties and cities.
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Objective:To investigate the diagnostic value of 99mTc-methylenediphosphonate(MDP) whole body bone scintigraphy in early brucellosis patients with bone and joint injuries. Methods:According to the Diagnosis for Brucellosis (WS 269-2019), combined with epidemiological history, clinical manifestations and serological tests, from November 2020 to April 2021, 15 early brucellosis patients (the course of disease was within 6 months) who had not received any drug treatment diagnosed at the Department for Brucellosis Prevention and Control, Qinghai Institute for Endemic Disease Prevention and Control were selected as the research subjects, and 99mTc-MDP whole body bone scintigraphy was performed on the patients to evaluate the images and analyze the pathological changes. Results:The 99mTc-MDP whole body bone scintigraphy of 15 patients with early brucellosis showed abnormalities, and the abnormal concentration of radionuclides mainly occurred in the 8th to 12th thoracic vertebrae (T8-12), the 1st to 2nd lumbar vertebrae (L1-2) and L4-5. Among them, the thoracic vertebrae abnormalities were T8, T9, T10, T11 and T12 in 1 case each; lumbar vertebrae abnormalities were 1 case of L1, 1 case of L2, 4 cases of L4, and 5 cases of L5. Conclusions:The 99mTc-MDP whole body bone scintigraphy is abnormal in patients with early brucellosis. Bone scintigraphy has certain value in the diagnosis of bone and joint injuries in patients with early brucellosis.
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Objective:To analyze the results of serum erythropoietin (EPO) in adults patients with Kaschin-Beck disease (KBD) in Qinghai Province.Methods:According to the "Diagnosis of Kaschin-Beck Disease" (WS/T 207-2010), by using clinical examination and X-ray, adults over 20 years old in KBD areas of Xinghai County and Guide County, Hainan Tibetan Autonomous Prefecture, Qinghai Province, were divided into KBD case group ( n = 109) and internal control group ( n = 95) in July 2019. At the same time, healthy people were selected as external control group ( n = 90) in Xunhua County. Then 2 ml fasting cubital venous blood was collected from the target population to separate serum. The serum EPO level was determined by enzyme-linked immunosorbent assay (ELISA). Results:There was no significant difference in age and sex ratio among the 3 groups ( F = 0.73, P = 0.484; χ 2 = 1.03, P = 0.611). There was significant difference in serum EPO levels among the 3 groups [KBD case, internal and external control groups: (30.74 ± 26.23), (19.73 ± 11.53) and (10.83 ± 4.48) U/L, F = 26.51, P < 0.001]. Multiple comparisons showed that there were statistically significant differences in serum EPO levels between KBD case group and the internal and external control groups ( P < 0.05), but there was no significant difference between the internal and external control groups ( P > 0.05). Conclusions:The serum EPO level in adult KBD patients in Qinghai Province is increased significantly.
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Objective:To study the clinical characteristics of neonatal community-acquired Novel Coronavirus (COVID-19) Omicron variant infection.Methods:From March 30 to May 15, 2022, the epidemiological characteristics, clinical manifestations and outcomes of neonatal cases of community-acquired COVID-19 Omicron variant infection admitted to the isolation ward of our hospital were analyzed.Results:A total of 7 neonates infected with community-acquired COVID-19 Omicron variant were treated, including 3 males and 4 females. All of them were term infants with clear epidemiological exposure history. The infection was originated from caregivers of close contact (parents or babysitters). The main clinical symptoms was upper respiratory tract infection, including fever (6 cases), nasal congestion (6 cases), cough (5 cases), runny nose (2 cases), poor appetite (2 cases) and diarrhea (1 case). On admission, no abnormalities were found in blood routine examination and C-reactive protein (CRP). All but one case had normal serum amyloid A (SAA). No obvious abnormalities were found on chest X-ray. All patients were isolated in single-patient rooms after admission. They received standard symptomatic treatment and regular nucleic acid tests. The first negative nucleic acid results came on median 17 d(8~26 d) after the onset of the disease. The patients were discharged after two consecutive (24 h apart) nucleic acid tests with CT value ≥35 and continued health-monitor at home. On discharge, 5 patients had nasal congestion and 2 of them had cough. During the follow-up 4~6 weeks after discharge, all patients gradually recovered without positive nucleic acid results.Conclusions:All 7 neonates with community-acquired COVID-19 Omicron variant infection have epidemiological exposure history. The main clinical symptoms are long-lasting upper respiratory tract infections. It takes a relatively long time for the nucleic acid to turn negative, however, the overall short-term prognosis is good.
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Objective:To master the epidemic trend of human brucellosis in Qinghai Province, so as to provide basis for scientific prevention and control of the disease.Methods:In 2019 and 2020, at the national and provincial brucellosis monitoring sites in Qinghai Province, a total of 18 counties (cities and districts, hereinafter referred to as counties), no less than 400 serum samples were sampled every year for brucellosis Rose-Bengal plate agglutination test (RBPT) and serum tube agglutination test (SAT), which would be tested and judged according to the criteria of "Diagnosis for Brucellosis" (WS 269-2019).Results:In 2019, a total of 1 612 people were monitored in national brucellosis monitoring sites, 93 were RBPT positive, 54 were SAT positive, 54 were diagnosed, and the prevalence rate was 3.35% (54/1 612). In 2020, 1 677 people were monitored in national brucellosis monitoring sites, 151 were RBPT positive, 80 were SAT positive, 80 were diagnosed, and the prevalence rate was 4.77% (80/1 677). There were significant differences in RBPT positive rate, SAT positive rate and prevalence rate among national monitoring sites between the two years (χ 2 = 12.52, 4.24, 4.24, P < 0.05). In 2019, a total of 6 043 people were monitored in provincial brucellosis monitoring sites, 128 were RBPT positive, 91 were SAT positive, 87 were diagnosed, and the prevalence rate was 1.44% (87/6 043). In 2020, 5 664 people were monitored, 108 were RBPT positive, 59 were SAT positive, 52 were diagnosed, and the prevalence rate was 0.92% (52/5 664). There was no significant difference in RBPT positive rate among provincial monitoring sites between the two years (χ 2 = 0.66, P = 0.416), and the differences in SAT positive rate and prevalence rate were statistically significant among provincial monitoring sites between the two years (χ 2 = 4.98, 14.57, P < 0.05). Conclusion:In 2019 and 2020, there are human brucellosis in national and provincial brucellosis monitoring sites in Qinghai Province.
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Objective:To understand the changes of serum interleukin (IL)-2 and IL-6 in adult patients with Kashin-Beck disease (KBD) in Qinghai Plateau, and to provide scientific basis for scientific prevention and treatment of plateau KBD.Methods:According to the "Diagnosis of Kashin-Beck Disease" (WS/T 207-2010), adult KBD patients and healthy people over 18 years old were selected as KBD group and control group, respectively, in KBD disease areas of Xinghai County and Guide County, Hainan Tibetan Autonomous Prefecture, Qinghai Province. Fasting cubital venous blood was collected from the people of two groups, and the levels of serum IL-2 and IL-6 were determined by enzyme-linked immunosorbent assay (ELISA).Results:A total of 193 people were surveyed, including 114 people in KBD group and 79 people in control group. There was no significant difference in age and sex ratio between the two groups ( t = 0.204, χ 2 = 2.547, P > 0.05). The serum IL-2 and IL-6 levels of the KBD group were (572.21 ± 172.92), (42.35 ± 15.86) pg/ml, respectively; compared with the control group [(511.28 ± 173.22), (51.96 ± 17.18) pg/ml], the differences were statistically significant ( t = 2.404, 3.999, P < 0.05). Conclusion:The serum IL-2 level is increased and IL-6 level is decreased in adult KBD patients in Qinghai Plateau, both of which may be involved in the inflammatory reaction of adult KBD.
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Objective:To study the predictive value of hour-specific total serum bilirubin(TSB) nomogram combined with clinical risk factors in the risk of hyperbilirubinemia.Method:Perinatal clinical data of newborns born in Shanghai Pudong New Area Health Care Hospital for Women and Children, Shanghai Pudong New Area People's Hospital and Shanghai Pudong Hospital from August 2017 to July 2018 were collected in this prospective study. Transcutaneous bilirubin (TcB) was monitored before discharge from hospital. Enrolled neonates were followed up for 28 days. The patients were assigned to neonatal hyperbilirubinemia group (NHB) and non-hyperbilirubinemia group (Non-HB) according to the occurrence of hyperbilirubinemia. The predictive value of models for the risk of hyperbilirubinemia was evaluated by receiver operating characteristic (ROC) curves and Logistic regression analysis.Result:A total of 8 664 newborns were included in this study, with 1 196 cases of hyperbilirubinemia, with an incidence of 13.8%. Logistic regression analysis showed that maternal blood type O, premature rupture of membranes, male gender, gestational age 35~37 weeks, subcutaneous ecchymosis/cranial edema, and breastfeeding were independent risk factors for NHB ( P<0.05). The area under receiver operative characteristic curve (ROC) of predischarge bilirubin risk zone only was 0.874(95% CI 0.861~0.885, P<0.05)and for all independent risk factors was 0.664 (95% CI 0.647~0.680, P<0.05). The area under ROC curve was 0.891 (95% CI 0.880~0.902, P<0.05) by combining predischarge bilirubin risk zone with clinical risk factors. Conclusion:Predischarge bilirubin risk zone combined with clinical risk factors can reasonably predict neonatal hyperbilirubinemia well.
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Objective:To detect serum Col2-3/4 C-terminal cleavage product of type Ⅱ collagen (C2C) and pyridinoline (PYD) among brucellosis patients at early period, and to provide a better understanding of the changes of bone and joint collagen metabolism in the early stage of brucellosis.Methods:From 2013 to 2016, 61 cases of brucellosis patients at early period (within 6 months) from brucellosisout patient of Qinghai Institute for Endemic Disease Prevention and Control were selected as case group, and 67 cases of healthy volunteers were selected as control group. Serum C2C and PYD levels in all samples were measured simultaneously with enzyme linked immunosorbent assay (ELISA).Results:The median serum C2C of patients with early brucellosis was 83.45 ng/ml and that of the control group was 73.35 ng/ml. There was significant difference in serum C2C between the case group and the control group ( Z = 5.027, P < 0.05). The median serum PYD of patients with early brucellosis was 278.45 nmol/L and that of the control group was 212.75 nmol/L. There was significant difference in serum PYD between the case group and the control group ( Z = 6.967, P < 0.05). Conclusion:Serum C2C and PYD levels of brucellosis patients at early period are increased.
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Objective:Combined with the actual work requirements of brucellosis in Qinghai Province, to design a management information system for brucellosis patients, in order to realize the information of diagnosis and treatment of brucellosis patients.Methods:Based on the theory of management information system, according to the functional requirements of the actual work and performance parameters, the general framework of management information system was designed, the establishment of the management information system was gradually completed, and the system was improved through the system testing.Results:The system was easy to use and easy to operate, and patient's detailed information, diagnosis and treatment results and treatment plan could be obtained quickly. At the same time, follow-up, trace investigation, and brucellosis prevention and treatment propaganda could be carried out.Conclusions:The established brucellosis management information system can realize the electronic management of patient information, master the disease development and diagnosis and treatment results of brucellosis patients. Through follow-up investigation, the system can increase active screening and early warning of suspected cases, and provide health education to realize early diagnosis and early treatment of the patients.
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Objective:To analyze the causes and epidemiological characteristics of an outbreak of brucellosis in Haidong City Qinghai Province, and provide a scientific basis for prevention and control of brucellosis.Methods:Using the retrospective research method, the epidemic data on brucellosis, field case investigations, serological test results in Haidong City, Qinghai Province in 2019 were collected from the "China Disease Prevention and Control Information System", and the above data were analyzed by descriptive epidemiological analysis.Results:There were 3 confirmed brucellosis patients, who were breeders of the farm; 1 case of latent infection was found in key population, who was villager from the same village as the confirmed patients; 4 people had a history of close contact with infected sheep. A total of 110 sheep serum and 7 bovine serum samples were collected in the animal breeding area, of which 26 were positive, all were sheep serum; 568 sheep serum and 17 bovine serum samples in the same village were negative.Conclusions:The key occupational groups contacted with infected sheep without protection is the main cause of this epidemic. Health education on brucellosis prevention and control should be vigorously carried out to improve the awareness of the people to prevent the disease; the monitoring of animal brucellosis by relevant departments should be strengthened to effectively control the spread of animal brucellosis, and prevent the occurrence of human brucellosis.
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Objective:The epidemic regularity and trend of human brucellosis in Qinghai Province were analyzed to provide basis for formulating more perfect prevention and control measures.Methods:Using descriptive epidemiological methods, the data of brucellosis reported cases in Qinghai Province from 2005 to 2018 (from the Infectious Disease Report Information Management System of the China Disease Prevention and Control Information System) were collected, and the three distributions (time, region and population distributions) of human brucellosis were statistically described and analyzed.Results:From 2005 to 2018, a total of 418 cases were reported in Qinghai Province, with a incidence of 0.05/100 000, the incidence of different years was statistically different (χ 2 = 11.63, P < 0.05). The incidence of brucellosis remained at a low level from 2005 to 2010, ranged from 0 to 0.05/100 000; and the incidence increased from 2011 to 2018, ranged from 0.27/100 000 to 2.06/100 000. There were reported cases of brucellosis throughout the year, and the onset time was mainly from April to June, accounting for 42.82% (179/418). The 418 cases were distributed in 20 counties (cities, districts), among which the top 5 incidence rates were Menyuan County (15.31%, 64/418), Henan County (13.40%, 56/418), Tianjun County (13.16%, 55/418), Xining City (12.44%, 52/418), and Haiyan County (7.66%, 32/418). In the population distribution, brucellosis cases in the age group from 40 to 49 years old were the most, accounting for 32.78% (137/418), the male to female ratio was 1.58 ∶ 1.00 (256∶162) . And the occupational distribution was dominated by herdsmen, accounting for 57.18% (239/418). Conclusions:The epidemic situation of brucellosis in Qinghai Province is on the rise. It should be strengthened the population monitoring and notification of outbreaks, and health education for all should be implemented.
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Objective:To detect cartilage oligomeric matrix protein (COMP) and C-terminal telopeptide of collagen type Ⅱ (CTX-Ⅱ) among brucellosis patients at early period, and provide a better understanding of the osteoarticular changes in this disease at early stage.Methods:Using case-control research method, the early brucellosis patients who visited the Department for Brucellosis Disease Prevention and Control, Qinghai Institute for Endemic Disease Prevention and Control from 2013 to 2016 were selected as the case group; through the principle of random matching, the healthy physical examination population was set as the control group. Serum COMP and CTX-Ⅱ were detected by enzyme-linked immunosorbent assay.Results:A total of 128 patients were investigated, including 61 patients (41 males and 20 females) with early brucellosis, aged (39.41 ± 10.51) years old, and 67 controls (44 males and 23 females), aged (40.31 ± 12.52) years old. The median of serum COMP in the case group was 1.70 μg/L, which was significantly higher than that in the control group (0.79 μg/L). The difference between the two groups was statistically significant ( Z = 3.614, P < 0.05); the median of serum CTX-Ⅱ in the case group was 116.44 pg/ml, and the median of serum CTX-Ⅱ in the control group was 128.48 pg/ml, and the difference was not statistically significant ( Z = 0.044, P > 0.05). Conclusion:The serum COMP levels of brucellosis patients at early period are increased, indicating osteoarticular changes of human brucellosis at early stage.
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Objective To study the level of serum interleukin-1β (IL-1β) among adult patients with Kaschin-Beck disease (KBD) in the KBD area of Xinghai County,Qinghai Province.Methods In 2017,cluster random sampling was used to carry out investigation in the KBD area of Xinghai County,Hainan Tibetan Autonomous Prefecture,Qinghai Province,and the residents aged over 20 years old were selected as the survey subjects.According to "the Diagnosis Criteria of Kaschin-Beck Disease" (WS/T 207-2010),the subjects were divided into KBD group and the control group.The serum IL-1β content of the subjects was detected by enzymelinked immunosorbent assay (ELISA).Statistical analysis of data was performed using SPSS 17.0 software.Results A total of 188 eligible residents were surveyed,including KBD group (97 cases) and control group (91 cases).The age [(45.89 ± 11.75),(47.95 ± 11.75) years] and gender (male:48,38,female:43,59) of two groups were no statistically significant (t =1.050,x2 =3.485,P ＞ 0.05).The serum IL-1β levels of KBD patients and healthy control were (94.54 ± 24.19) and (65.95 ± 20.08) ng/L,respectively,which were significantly different (t =8.839,P ＜ 0.05).Conclusion There is an inflammatory change in adults with KBD in Xinghai County,Qinghai Province.
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The construction of health file of patients with brucellosis in Qinghai Province was based on the Qinghai Provincial Public Health Network Information Platform. It was jointly participated and implemented by animal husbandry and veterinary departments, animal disease control centers, disease control centers and hospitals at all levels, to achieve standardized management of early detection, early diagnosis, early treatment, as well as follow-up, review, and efficacy evaluation. After analyzing the health file of brucellosis patients, we proposed to strengthen the propaganda of brucellosis, collect information from multiple diseases, share resources with multiple departments, integrate human resources and exert management responsibilities, and explore opinions and countermeasures suitable for local working conditions. The establishment of a health file for patients with brucellosis could fully grasp the diagnosis and treatment of brucellosis patients, facilitate the management of follow-up and review, and it was helpful to understand the distribution and prevalence of brucellosis in Qinghai Province, and to warn the epidemic trend.
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Objective To screen the most suitable medium for Brucella drug susceptibility test, and observe the resistance of human derived Brucella to different antibiotics. Methods Totally 180 strains of Brucella isolated from 25 provinces (municipalities, autonomous regions) in recent years were taken as observation objects. Mueller-Hinton ( MH ) agar , MH blood agar and Brinell agar were used to carried out the drug susceptibility test in vitro, and to compare the results of drug susceptibility test of different medium; the most suitable Brucella drug susceptibility test medium was used to detect the resistance of human derived Brucella to Doxycycline, Rifampicin, Streptomycin, Levofloxacin, Moxifloxacin, Ceftriaxone sodium, Co-trimoxazole and Amoxicillin/Clavulanic acid by K-B drug sensitive paper, and to observe the formation of antibacterial ring around the drug sensitive paper. Results The growth of Brucella on the MH agar and MH blood agar were slower than that on the Brinell agar, and the antibacterial rings were not obvious. All the 180 strains of Brucella were sensitive to seven antibiotics such as Doxycycline, Rifampicin, Streptomycin, Levofloxacin, Moxifloxacin, Ceftriaxone sodium, and Amoxicillin/Clavulanic acid; and 70 strains of Brucella were resistant to Co-trimoxazole, accounting for 39％ (70/180); Brucella strains resistant to Co-trimoxazole were found in 21 provinces. Conclusions Brinell agar is the most suitable medium for Brucella susceptibility test. The human derived Brucella is resistant to Co-trimoxazole; the resistant strains are distributed in 21 provinces ( municipalities , autonomous regions ) . It is recommended that relevant departm ents of the province ( municipalities , autonomous regions ) carry out epidemiological investigations on the resistance of Brucella, and strengthen the monitoring of drug resistance in clinical drugs of brucellosis patients.
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Objective To understand the changes of serum tumor necrosis factor-α (TNF-α) among adults with Kaschin-Beck disease (KBD) in Qinghai,and to provide scientific data for KBD prevention and control.Methods A case-control study was used,according to "Diagnosis of Kaschin-Beck disease",104 cases of KBD patients [aged (47.61 ± 12.72) years old;50 males,54 females] and 95 cases of internal healthy controls [aged (48.28 ±14.87) years old;35 males,60 females],which were from KBD areas in Xinghai and Guide counties of Hainan Tibetan Autonomous Prefecture,Qinghai Province,and 73 cases of external healthy controls [aged (51.88 ± 13.93)years old;35 males,38 females] from non-KBD region of Xunhua County were included in July 2017.Serum TNF-α was determined via the enzyme linked immunosorbent assay (ELISA) method.Results Totally 272 persons were studied and divided into three groups,there was no statistical significant difference of ages among the three groups (F =2.236,P ＞ 0.05),meanwhile,there was no statistical significant difference of genders among the three groups (x2 =3.135,P ＞ 0.05).The serum TNF-α levels of KBD patients,internal and external healthy controls were (25.14 ± 10.29),(21.84 ± 9.37),and (24.98 ± 8.98) ng/L,respectively,which were statistically significantly different among the three groups (F =3.486,P ＜ 0.05).The serum TNF-α levels in the KBD group and the external healthy control were higher than that in internal healthy control (P ＜ 0.05).There was no significant difference between the KBD group and the external healthy control (P ＞ 0.05).Conclusion There may exist inflammatory changes among KBD patients in KBD areas of Qinghai Province.
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Objective To study the clinical features,diagnosis,genetic characteristics and treatment of congenital disorder of glycosylation type Ⅰg (CDG-Ⅰg) and to raise the awareness of CDG-Ⅰg among the clinicians.Method The data of one child with CDG-Ⅰg admitted to Shanghai Children's Medical Center affiliated to Shanghai Jiaotong University School of Medicine was studied retrospectively.Literatures were retrieved with key words including "congenital glycosylation disorder Ⅰg","ALG12","congenital glycosylation defect Ⅰg","CDG-Ⅰg" and "congenital disorder" in the Chinese knowledge network,VP database,Wanfang database,Biomedicine,PubMed and the Web of Science database from data established until January 2018.We summarized the clinical and genetic characteristics of CDG-Ⅰg.Result An one-day-old male infant admitted to the Hospital due to "poor response with hypoglycemia" manifested with facial deformity,hypotonia,inverted nipples,micropenis and undescended testes.He had intermittent hypoglycemia and recurrent infection,treated with antimicrobials,glucose rehydration and hormone therapy.Serum insulin,growth hormone level,blood and urine metabolic screening were normal.The patient was compound heterozygous for ALG12 mutations,c.432C ＞ A,p.Cys144 * and c.904T ＞ C,p.Tyr302His,each of his parents carried a pathogenic mutation.The patient died in follow-up for unknown reasons.No reported cases of CDG-Ⅰg from China have so far been reported yet.We reviewed the other 8 cases CDG-Ⅰg (4 males and 4 females) born in foreign countries,5 of them with neonatal onset.Common clinical manifestaions include facial deformity,hypotonia,hypogenitalism,coagulopathy,hypoimmunity,recurrent infection,electroyte imbalance etc.The ALG12 gene has 11 mutation sites.Conclusion CDG-Ⅰg is a rare autosomal recessive disorder.Most reported patients had onset in neonatal period.It seems that the association of facial deformity,psychomotor retardation,hypotonia,coagulopathy,male hypogenitalism and hypoglycemia might be a clue to the diagnosis of CDG-Ⅰg.Gene detection of ALG12 can confirm the diagnosis.This disorder has no specific treatment yet.
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Objective To study the relationship of microRNA (miR) in breast milk and neonatal breast milk associated jaundice.Method From Sep.to Dec.2016,neonates with severe hyperbilirubinemia caused by breast milk were selected as the observation group,and breast-fed neonates without jaundice were selected as the control group.Their breast milk were collected,and the expression profile of miR in the breast milk was examined using miR sequencing.The variation of miR profile was screened using bioinformatics method,and miR related to neonatal breast milk associated jaundice was studied and the target genes were predicted.Result The breast milk contained many miRs associated with immunity regulation and metabolism,including miR-148-3p,miR-30a-5p,miR-146-5p,let-7f-5p,miR-181-5p,miR-22-3p,and miR-182-5p.The expressions of miR-30a-5p,miR-146a-5p and miR-141-3p in the observation group were significantly higher than the control group,and the differences were 2.600,2.038 and 1.899-fold,respectively.Uridine diphosphate glucuronosyl transferase1A1 gene was one of the target genes of miR-141-3p.Conclusion Breast milk miR may influence the growth and development,immunity regulation and metabolism of newborns.Some miRs,such as miR-141-3p,may be correlated with neonatal breast milk associated jaundice.
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Objective To know the prevalence of brucellosis in Three Rivers Fountainhead of Qinghai Province,to analyze the influencing factors of human brucellosis and to provide reference for effective control of brucellosis epidemic.Methods The epidemiological data of human brucellosis in Three Rivers Fountainhead of Qinghai Province from 2012 to 2014 were collected from Qinghai Institute for Endemic Disease Prevention and Control.The distribution of time,area,population and the behavioral factors of the infected population were analyzed.Results A total of 6 310 people were surveyed,the infection rate was 2.23％ (141/6 310),the prevalence rate was 0.63％ (40/6 310),and the number of new cases was 40.Prevalence in Nangqian County was the highest [2.00％ (12/601)].From January to April,most cases were found,which accounting for 50.00％ (20/40).The main occupation of the patients was herdsmen,accounting for 87.50％ (35/40).The difference of constituent ratio of different nationalities in infected population was statistically significant (x2 =13.32,P ＜ 0.05).The dominant strain of brucellosis was Brucella ovis.The results of behavioral factors survey showed that the risk factors were epidemiological contact history,eating undercooked meat,no harmless treatment of diseased livestock products,no self-protection measures when contacting diseased livestock,frequent consumption of raw milk,direct unarmed contact with diseased livestock and their products,and lived in the same room with lambs (OR =21.530,3.337,6.227,1.760,3.874,4.602,3.753,P ＜ 0.05).Conclusions Brucellosis is common in winter and spring in Three Rivers Fountainhead of Qinghai Province,mainly among herdsmen and in local areas.Brucellosis in Three Rivers Fountainhead is related to many behavioral factors.