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More and more clinical evidence confirms that hypopituitary dysfunction can lead to liver cirrhosis. The causes of hypopituitary dysfunction include sellarneoplastic diseases, hereditary diseases, perinatal adverse events, etc. Clinically, growth hormone deficiency (GHD) often the first cause in hypopituitary dysfunction.Hypopituitary dysfunction, especially GHD, can lead to liver cirrhosis, which in turn can result in damage to multiple organs such as the secondary lungs, spleen, and heart.Therefore, its clinical manifestations are complex, and the patients are first diagnosed in various departments.Reliable clinical observations have shown that GH replacement therapy at the early stage of the disease can effectively prevent and reverse the progression of cirrhosis, or even avoid inappropriate or unnecessary combined transplantation of liver or liver-related organs.Multidisciplinary collaboration and attention to the new findings that hypopituitary dysfunction can lead to liver cirrhosis will help to improve the accurate diagnosis and treatment of liver cirrhosis.
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Hipopituitarismo , Doenças da Hipófise , Feminino , Gravidez , Humanos , Hipopituitarismo/diagnóstico , Hipopituitarismo/etiologia , Hipopituitarismo/terapia , Cirrose Hepática/diagnóstico , Cirrose Hepática/terapia , HipófiseRESUMO
To analyze the clinical features of patients with anterior hypopituitarism (HP) complicated with cirrhosis, and to explore the effects of growth hormone supplementation on liver and lung function. A total of 11 patients with HP complicated with cirrhosis admitted to Peking Union Medical College Hospital from January 2016 to December 2022 were included in the study, including 8 males and 3 females, aged [M(Q1, Q3)]31 (20, 37) years. There were 6 patients with pituitary stalk interruption syndrome, 4 patients after craniopharyngioma resection, and 1 patient after germinal cell tumor chemoradiotherapy. Cirrhosis appeared at [M(Q1, Q3)]7 (1, 16) years after the diagnosis of HP. There were 7 cases complicated with hepatopulmonary syndrome (HPS). The liver and lung function of 5 patients were improved significantly after the addition of growth hormone, and the arterial partial pressure of oxygen increased from (47±11) mmHg(1 mmHg=0.133 kPa) to (84±12) mmHg. Timely supplementation of growth hormone can improve the symptoms of fatty liver, cirrhosis and HPS, and postpone or even avoid the transplantation of liver and other organs.
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Síndrome Hepatopulmonar , Hormônio do Crescimento Humano , Hipopituitarismo , Neoplasias Hipofisárias , Humanos , Masculino , Feminino , Idoso , Hormônio do Crescimento , Cirrose Hepática , Hipopituitarismo/complicações , Hipopituitarismo/patologia , Síndrome Hepatopulmonar/complicações , Síndrome Hepatopulmonar/diagnóstico , Pulmão/patologia , Suplementos NutricionaisRESUMO
Objective: To analyze serum bile acid profiles in pregnant women with normal pregnancy, intrahepatic cholestasis of pregnancy (ICP) and asymptomatic hypercholanemia of pregnancy (AHP), and to evaluate the application value of serum bile acid profiles in the diagnosis of ICP and AHP. Methods: The clinical data of 122 pregnant women who underwent prenatal examination in Xuzhou Maternal and Child Health Care Hospital from June 2022 to May 2023 were collected, including 54 cases of normal pregnancy group, 28 cases of ICP group and 40 cases of AHP group. Ultraperformance liquid chromatography-tandem mass spectrometry was used to measure the levels of 15 serum bile acids in each group, including cholic acid (CA), chenodeoxycholic acid (CDCA), deoxycholic acid (DCA), lithocholic acid (LCA), ursodeoxycholic acid (UDCA), glycolcholic acid (GCA), glycochenodeoxycholic acid (GCDCA), glycodeoxycholic acid (GDCA), glycolithocholic acid (GLCA), glycoursodeoxycholic acid (GUDCA), taurocholic acid (TCA), taurochenodeoxycholic acid (TCDCA), taurodeoxycholic acid (TDCA), taurolithocholic acid (TLCA) and tauroursodeoxycholic acid (TUDCA). Principal component analysis (PCA) and orthogonal partial least squares discriminant analysis (OPLS-DA) were used to screen differential bile acids. The receiver operating characteristic (ROC) curve was used to analyze the diagnostic efficacy of differential bile acids and combined indicators between groups. Results: (1) Compared with normal pregnancy group, the serum levels of LCA, GCA, GCDCA, GDCA, GLCA, UDCA, TCA, TCDCA, TDCA, TLCA, GUDCA and TUDCA in ICP group were significantly different (all P<0.05), while the levels of LCA, DCA, GCA, GCDCA, GDCA, GLCA, TCA, TCDCA, TDCA, TLCA, GUDCA and TUDCA in AHP group were significantly different (all P<0.05). Compared with ICP group, the serum levels of CDCA, DCA, UDCA, TDCA, GUDCA and TUDCA in AHP group were significantly different (all P<0.05). (2) In the OPLS-DA model, the differential bile acids between ICP group and AHP group were TUDCA, TCA, UDCA, GUDCA and GCA, and their variable importance in projection (VIP) were 1.489, 1.345, 1.344, 1.184 and 1.111, respectively. TCA, GCDCA, GCA, TDCA, GDCA and TCDCA were the differentially expressed bile acids between AHP group and normal pregnancy group, and their VIP values were 1.236, 1.229, 1.197, 1.145, 1.139 and 1.138, respectively. (3) ROC analysis showed that the area under the curve (AUC) of TUDCA, TCA, UDCA, GUDCA and GCA in the differential diagnosis of ICP and AHP was 0.860, and the sensitivity and specificity were 67.9% and 95.0%, respectively. The AUC of TCA, GCDCA, GCA, TDCA, GDCA and TCDCA in the diagnosis of AHP was 0.964, and the sensitivity and specificity were 95.0% and 93.1%, respectively. Conclusions: There are differences in serum bile acid profiles among normal pregnant women, ICP and AHP. The serum bile acid profiles of pregnant women have potential application value in the differential diagnosis of ICP and AHP and the diagnosis of AHP.
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Ácidos e Sais Biliares , Colestase Intra-Hepática , Complicações na Gravidez , Humanos , Feminino , Gravidez , Colestase Intra-Hepática/sangue , Colestase Intra-Hepática/diagnóstico , Ácidos e Sais Biliares/sangue , Complicações na Gravidez/sangue , Complicações na Gravidez/diagnóstico , Adulto , Espectrometria de Massas em Tandem/métodos , Sensibilidade e Especificidade , Curva ROCRESUMO
With the wide use of screen media, screen exposure shows a trend of younger age, and the screen exposure of children and adolescents has become a global public health issue of concern. Childhood and adolescence are important stages of growth and development, as well as critical periods of cognitive ability, emotional development and socialization. Previous studies have shown that screen time is closely related to the mental health of children and adolescents, but few studies have focused on the correlation between screen content and their mental health. The screen content for children and adolescents mainly comes from traditional TV and emerging interactive electronic media. Children and adolescents are highly sensitive to screen content. This paper summarizes the current situation of screen content for children and adolescents and reviews the correlation between screen content and their mental health issues. It also reveals the potential mechanism of the correlation between the two to provide a theoretical basis for the selection and supervision of screen content for children and adolescents.
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Saúde Mental , Tempo de Tela , Humanos , Adolescente , Criança , TelevisãoRESUMO
Objective: To understand the prevalence of occasional hypertension in preschool children in three provinces in the middle and lower reaches of the Yangtze River in China, and analyze the relationship between their sleep status and occasional hypertension. Methods: From October to November 2017, a total of 24 842 preschool children from 109 kindergartens in 11 cities in Hubei, Anhui and Jiangsu provinces were selected by intentional sampling method. A self-made questionnaire was used to collect basic information about the subjects, and the sleep status data was collected by the Children's Sleep Habits Questionnaire. Physical examinations were performed on the subjects, and height, weight and blood pressure were measured on-site. The difference in occasional hypertension detection rate among preschool children with different characteristics was compared, and the correlation between sleep status and occasional hypertension detection rate was analyzed by the multivariate logistic regression model. Results: The age of the subjects was (4.4±1.0) years, including 12 729 boys (51.2%). The prevalence of occasional hypertension was 31.8% (7 907/24 842). The prevalence of occasional hypertension among preschool children in three provinces of the middle and lower reaches of the Yangtze River was 31.8%. There were statistically significant differences in the detection rate of occasional hypertension among preschool children of different genders, age groups, family residence, family economic status and parents' education level (all P values<0.05). The detection rate of occasional hypertension in children with less than 10 hours of sleep was higher than those with sufficient sleep, and the difference was statistically significant (P<0.05). The results of multivariate logistic regression analysis showed that after adjusting for factors such as gender, age, family residence, family economic status, parental education level, parental smoking history, and physical constitution, the ORs (95%CI) for less than 10 hours of sleep, turning on the lights while sleeping, and poor sleep quality were 1.09 (1.03-1.15), 1.17 (1.07-1.28) and 1.04 (0.91-1.18), respectively, compared with the corresponding reference group. Conclusion: The detection rate of occasional hypertension is high in preschool children in the middle and lower reaches of the Yangtze River and there is a positive correlation between insufficient sleep and turning on the light when sleeping and occasional hypertension in preschool children.
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Hipertensão , Rios , Humanos , Masculino , Pré-Escolar , Feminino , Sono , Hipertensão/epidemiologia , Pressão Sanguínea , China/epidemiologiaRESUMO
Methimazole is the most commonly used medication for hyperthyroidism with good effects and little adverse reactions. However, improper selection of initial dose will affect the efficacy, such as excessive dose is proven to various adverse reactions; insufficient dose can hardly achieve desired efficacy. Based on the literature and personal clinical experience, the author discusses the following clinical issues related to methimazole in the treatment of hyperthyroidism, including the selection of initial dose, dose adjustment and withdrawal of methimazole, drug therapy for patients with liver function injury, and management strategies for methimazole-related adverse reactions.
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Hipertireoidismo , Metimazol , Humanos , Metimazol/uso terapêutico , Metimazol/efeitos adversos , Antitireóideos/uso terapêutico , Hipertireoidismo/tratamento farmacológicoRESUMO
Adolescents are in a transition period from children to adults, during which they are prone to a variety of emotional disorders, with anxiety and depression being the most common disorders. Anxiety and depressive symptoms are highly correlated and the comorbidity of anxiety and depression is common. At the same time, the most prominent behavioral changes in adolescence are the emergence of getting up late and sleeping late, and the circadian rhythm begins to delay. Previous studies have shown that circadian rhythm is closely related to anxiety and depression, but the association between circadian rhythm disorder and comorbidity of anxiety and depression remains unclear. This article reviews the prevalence, association and potential biological mechanism of circadian rhythm disorder and comorbidity of anxiety and depression in adolescents, so as to provide a possible reference for the prevention and control of comorbidity of anxiety and depression in adolescents.
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Transtornos Cronobiológicos , Depressão , Adulto , Criança , Adolescente , Humanos , Depressão/epidemiologia , Ansiedade/epidemiologia , Comorbidade , SonoRESUMO
Metabolic dysfunction-associated fatty liver disease (MAFLD) is the most common chronic liver disease worldwide, and the risk of all-cause and liver-related mortality significantly increases with the degree of fibrosis. Early diagnosis of MAFLD and its degree of liver fibrosis are of great significance, so it is particularly important to find an accurate and simple, non-invasive diagnostic method. In recent years, high-throughput omics technology has developed rapidly and played an important role in the non-invasive diagnosis and prediction of fibrosis degree in MAFLD. This article summarizes the application progress of genomics, epigenomics, transcriptomics, proteomics, metabolomics, microbiomics, radiomics, and the combination of multi-omics for the diagnosis of MAFLD disease.
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Hepatopatia Gordurosa não Alcoólica , Humanos , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Metabolômica , Perfilação da Expressão Gênica , Cirrose HepáticaRESUMO
Uranium has both radiotoxicity and chemical toxicity. Low enriched uranium is mainly chemically toxic, the kidney is the target organ of uranium chemical toxicity. However, due to the differences among species and the mixed effects of chemical toxicity and radiotoxicity, the dose effect relationship of uranium is not clear, and the current standards in China do not provide chemical toxicity limits for uranium workplaces. This paper reviews the data of acute and chronic human uranium exposure, dose effect relationship and renal injury risk prediction literature at home and abroad, providing reference for the health protection of uranium workers and the establishment of chemical limits in uranium workplaces.
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Urânio , Humanos , Urânio/toxicidade , Rim , ChinaRESUMO
OBJECTIVE: Coronavirus disease 2019 (COVID-19) has brought great uncertainty to our society and it may have disrupted people's ontological security. Consequently, this hospital-based study concerns the impact of ontological insecurity on vaccination behavior against COVID-19. STUDY DESIGN: This cross-sectional study was conducted among hospital inpatients. METHODS: A questionnaire survey addressing inpatient ontological insecurity and vaccination behavior against COVID-19 was administered in Taizhou, China. A total of 1223 questionnaires were collected; specifically, 1185 of them were credible, for a validity rate of 96.9%. RESULTS: The score of ontological insecurity was 13.27 ± 7.84, which was higher in participants who did not recommend vaccination for others than those who did (12.95 ± 8.25 vs 14.00 ± 6.78, P = 0.022). There was no difference between the vaccinated and unvaccinated groups (13.22 ± 7.96 vs 13.35 ± 7.67, P = 0.779). Lower ontological insecurity (odds ratio [OR] = 1.40, 95% confidence interval [CI]: 1.08-1.81) and being inoculated with COVID-19 vaccines (OR = 2.17, 95% CI: 1.67-2.82) were significantly associated with recommendation of COVID-19 vaccines to others after adjusting for sex, age, education, and occupation. Associations between low ontological insecurity and recommendations for COVID-19 vaccines were observed in men, adults aged 18-59 years, non-farmers, and vaccine recipients. CONCLUSIONS: This study suggests that the ontological insecurity of participants affects their behavior of recommending the COVID-19 vaccination to others rather than getting vaccinated themselves. This promotion of vaccination can be considered from the perspective of improving ontological security in China.
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COVID-19 , Adulto , COVID-19/epidemiologia , COVID-19/prevenção & controle , Vacinas contra COVID-19/uso terapêutico , Estudos Transversais , Hospitais , Humanos , Masculino , VacinaçãoRESUMO
Objective: To investigate the association of central motion conduction time (CMCT) with corticospinal tract lesions and its clinical application. Methods: Patients who completed transcranial magnetic stimulation-motor evoked potentials were included from Department of Neurology, Xuanwu Hospital between June 2020 and June 2021. The differences of CMCT values between corticospinal tract sign-positive group and tendon reflex-positive group and the relevant negative groups were compared. The consistency between increased CMCT values and the positive signs of corticospinal tract damage, as well as the significance of CMCT in different neurological diseases were further evaluated. Results: A total of 271 patients were included in the study, aged 12-86 (49±16) years, with 137 males (50.55%) and 134 females (49.45%). The CMCT valuesï¼»Mï¼Q1ï¼Q3ï¼ï¼½from Hoffmann's sign-positive group [9.52 (8.54, 10.99) ms vs 9.03 (8.30, 9.53) ms], Babinski's sign-positive group [19.54 (16.97, 24.43) ms vs 16.85(15.63, 18.55) ms] and tendon reflex-positive group [15.38 (9.27, 19.28) ms vs 10.49(8.79, 16.60) ms] were larger than those of relevant negative groups (all P<0.01). In the Babinski sign-positive group, 78.01%(181/232) of the patients had increased CMCT, while in the Hoffmann's sign-positive group, only 26.03%(19/73) of the patients had increased CMCT, indicating that the contribution of CMCT from the lower extremities to the assessment of corticospinal tract lesions was better than that of the upper extremities. With the increase of CMCT values in lower limbs, Babinski sign positive rate increased, the difference was statistically significant(P<0.001). In nervous system diseases, the consistency between CMCT and pathological signs was 75.65% (205/271). Conclusions: The contribution of CMCT from the lower extremities to the assessment of corticospinal tract lesions is superior to that of upper limbs. The higher increase of CMCT values are more reliable for corticospinal tract damage. CMCT has a good concordance with corticospinal tract lesions in some neurological diseases, which can be used to assist clinical diagnosis.
Assuntos
Tratos Piramidais , Compressão da Medula Espinal , Potencial Evocado Motor/fisiologia , Feminino , Humanos , Masculino , Condução Nervosa , Compressão da Medula Espinal/diagnóstico , Estimulação Magnética TranscranianaRESUMO
Objective: To analyze the clinical features and spinal lesions related to micturitionin of chronic prostatitis/chronic pelvic pain syndrome(CP/CPPS) patients. Methods: Patients with CP/CPPS were enrolled to this study at the outpatient department of Tongji Hospital between January and June 2019. The data of clinical features was collected and analyzed, including lower urinary tract symptoms(LUTS), bowel syndrome and pain over different parts of body, as well as lower urinary tract dysfunction, spinal lesions and pelvic organ morphological changes demonstrated by MRI. The potential role of spinal lesions in the development of CP/CPPS syndrome was investigated. Results: A total of 126 CP/CPPS patients were included, with an ageï¼»Mï¼Q1ï¼Q3ï¼ï¼½of 41(31,53) years and a course of disease of 2(1,20) years. Among them, 126 (100.0%) were complicated with LUTS, 72(57.1%) with bowel dysfunction and 88(69.8%) with pain. MRI showed the cervical central disc herniation(126 cases, 100.0%), the ischemic changing in the cervical area of visceral efferant pathway(82 cases, 65.1%), the lumbar central disc herniation(65 cases, 51.6%), and the sacral nerve cysts(97 cases, 77.0%) are commonly seen. In addition, the morphological changes in the visceral organs containing smooth muscle were demonstrated, including thickened bladder wall(91 cases, 72.2%), distended seminal vesicles(70 cases, 55.6%) and distended sigmoid colon/rectum(59 cases, 46.8%). Conclusions: CP/CPPS patients were characterized by the co-existence of LUTS, bowel dysfunction and somatic pain in one individual. The presence of multi-organ symptoms, combined with the high prevalence of spinal lesions associated with micturition reflex, suggesting the potential role of the spinal lesions in the development of CP/CPPS.
Assuntos
Sintomas do Trato Urinário Inferior , Prostatite , Humanos , Masculino , Dor Pélvica , Prevalência , Prostatite/complicações , Prostatite/diagnóstico , Prostatite/epidemiologia , SíndromeRESUMO
Anxiety and depression, as two emotional disorders with high incidence in children and adolescents, have become major public health issues for health and life safety. Anxiety and depression often exist in the form of comorbidities due to the common clinical manifestations, behavioral characteristics, genetic and environmental etiological mechanisms, which have short-term and long-term adverse health effects. This article summarizes the prevalence and characteristics of the comorbidity of anxiety and depression in children and adolescents, reviews the etiological models and influencing factors of the comorbidity of anxiety and depression, and reveals the underlying etiological mechanism, in order to provide a reference for the prevention and control of the comorbidity of anxiety and depression in children and adolescents.
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Ansiedade , Depressão , Adolescente , Ansiedade/epidemiologia , Transtornos de Ansiedade/epidemiologia , Transtornos de Ansiedade/psicologia , Criança , Comorbidade , Depressão/epidemiologia , Depressão/psicologia , Humanos , PrevalênciaRESUMO
The paradox of obesity and metabolically healthy obesity are being challenged. More and more studies have disputed the potential mechanism and prognostic value of metabolically healthy obesity. The study of metabolically healthy obesity is helpful to clarify the potential causes of obesity paradox and the potential mechanism of different degrees of obesity harm to the population. From the perspective of evidence-based medicine, combined with the relevant literature at home and abroad, this study reviewed the new understanding of metabolically healthy obesity, lifestyle factors, the impact of fat factors on metabolically healthy obesity, and the new opportunities of metabolically healthy obesity research, in order to explore whether metabolically healthy obesity can maintain and gradually reduce weight for a long time, so as to improve cardiovascular disease In order to achieve the purpose of primary prevention of related diseases.
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Doenças Cardiovasculares , Obesidade Metabolicamente Benigna , Humanos , Estilo de Vida , Obesidade/prevenção & controleRESUMO
Objective: To investigate the current situation of cell phone use and sleep quality among college students, establish a sleep quality trajectory model and explore the influence of cell phone use on the sleep quality trajectory. Methods: Based on data from the College Student Behavior and Health Cohort Study 2019-2020, a latent class growth modeling was used to establish a sleep quality trajectory model among college students. The baseline influencing factors of sleep quality trajectories among college students were analyzed by χ2 test, and the effects of cell phone use on sleep quality trajectories were analyzed by binary logistic regression. Results: A total of 1 092 college students were included in the analysis. The detection rates of cell phone use and poor sleep quality were 24.5% and 13.3%. Latent class growth model identified two groups of sleep quality trend trajactories: an improved sleep quality group (86.0%) and a decreased sleep quality group (14.0%). The result of binary logistic regression showed that the cell phone use was a risk factor of sleep quality trajectories. Conclusion: The cell phone use during college period could increase the risk of poor sleep quality. Targeted intervention measures about cell phone use should be adopted to improve the sleep quality among college students.
Assuntos
Uso do Telefone Celular , Telefone Celular , Distúrbios do Início e da Manutenção do Sono , Humanos , Qualidade do Sono , Estudos de Coortes , Inquéritos e Questionários , Estudantes , SonoRESUMO
High-entropy alloys (HEAs) have been reported to have superior ability in hydrogen (H) storage and strong resistance to H embrittlement. These exceptional properties are directly related to the H solution in the HEAs. However, the diversity of atomic environments in the HEAs complicate the calculation of the H solution energy. With regard to this, we clarified an origin causing the variety of solution energy from the viewpoint of chemical and elastic interactions of H with the host atoms. Combining the semi-empirical atom potential and first-principles calculations regarding H in FeCrCoNi, NbMoTaW, and FeCuCrMnMo, we found that the elastic interaction presents a visibly linear relationship with the volume expansion caused by H insertion. By contrast, the chemical interaction shows a non-linear relationship with the volume of the interstitial polyhedron. A universal model was then established to generalize the solution energy of H. This model can expeditiously assess the H distribution and provide insight into evolution of the microstructure in HEAs.
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Biological probes with integrated photoluminescence and magnetism characteristics play a critical role in modern clinical diagnosis and surgical protocols combining fluorescence optical imaging (FOI) with magnetic resonance imaging (MRI) technology. However, traditional magnetic semiconductors can easily generate a spin splitting at the Fermi level and half-metallic electronic occupation, which will sharply reduce the radiation recombination efficiency of photogenerated carriers. To overcome this intrinsic contradiction, we propose a controllable oxidation strategy to introduce some particular PîO bonds into black phosphorus nanosheets, in which the p orbital hybridization between P and O atoms not only provides some carrier recombination centers but also leads to a room-temperature spin polarization. As a result, the coexistence of photoluminescence and magnetism is realized in multifunctional black phosphorus probes with excellent biocompatibility. This work provides a new insight into integrating photoluminescence and magnetism together by intriguing atomic orbital hybridization.
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Objective: To investigate the clinical epidemiological characteristics of children with pertussis and the infection of their close contacts. Methods: The clinical data of children with pertussis and the etiological detection results of close contacts in Shenzhen Children's Hospital from 2015 to 2018 were collected and descriptive epidemiological analysis was carried out. Results: The cases of pertussis from 2015 to 2018 were reported as 504, 425, 796 and 991 respectively, with a total of 2 716 cases. The most cases was in May in 2015 (72 cases), in August in 2016 and 2018 (68 cases and 144 cases), and in July in 2017 (115 cases). A total of 1 517 male and 1 199 female children were reported from 2015 to 2018, the ratio of male-to-female was 1.3â¶1. The proportion of children under 1 year old was 79.7% (2 165/2 716), of which 74.4% (1 610/2 165) was less than 6 months old. Among the reported cases, 1 605 (59.1%) were treated as outpatients, aged M(Q1,Q3) 5 (3, 11) months, and 1 111 (40.9%) were hospitalized, aged 4 (2, 7) months. There were 876 outpatients (54.4%) and 734 inpatients (45.6%) under 6 months of age, 575 outpatients (63.5%) and 331 inpatients (36.5%) between 6 months and 2 years of age, and 154 outpatients (77.0%) and 46 inpatients (23.0%) with above 2 years old, respectively. There were statistically significant differences between the two treatment methods in different age groups (P<0.001). The average hospitalization time of inpatients under 6 months of age was (8.5±3.9) days, that of inpatients between 6 months and 2 years of age was (7.1±3.7) days, and that of inpatients above 2 years old was (6.8±3.3) days. The difference was statistically significant (P<0.001). The etiological test results of pertussis were collected from 617 close contacts of 270 reported cases, the positive detection rate of mothers was the highest (34.9%). Conclusions: From 2015 to 2018, the number of reported cases of pertussis in our hospital fluctuated and increased year by year, with high incidence in summer, mainly in children under 1 year old, and more males than females. Outpatient treatment was more than inpatient treatment, its age was obviously older than the latter. The younger the children, the higher the proportion of hospitalization, and with the increase of the age, the hospitalization time was obviously shortened. Among the close family contacts, the mother might be the main source of pertussis infection in children.
Assuntos
Coqueluche , Criança , Feminino , Hospitalização , Humanos , Incidência , Lactente , Pacientes Internados , Masculino , Estações do Ano , Coqueluche/epidemiologiaRESUMO
Objective: To analyze the differences in clinical and biochemical characteristics and treatment effects in patients with different genotypes of Prader-Willi syndrome (PWS). Methods: A total of 35 patients with PWS, 20 males and 15 females aged from 0.8 to 10.0 years with an average age of 3.0 years, were retrospectively included in this study. All of them were treated in the Department of Endocrinology of Peking Union Medical College Hospital from May 2017 to December 2018. The clinical material, biochemical data, and peripheral blood samples of the patients were collected. Genomic DNA was extracted from peripheral blood leukocytes of patients, and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was used to detect gene deletion or abnormal methylation. According to the results of detection, 35 patients were divided into two groups: paternal deletion group(n=27) and methylation abnormal group(n=8). The biochemical test results and the effect of growth hormone (GH) treatment of the two groups were analyzed. Results: MS-MLPA showed that 77% (27/35) of the patients were confirmed paternal deletion and 23% (8/35) were abnormal methylation. In terms of biochemical test results, the plasma concentrations of uric acid(UA) in the paternal deletion group were higher than that in the abnormal methylation group [(363±101) µmol/L vs (259±74) µ mol/L, P=0.019 ]. There is a linear relationship between body weight and uric acid level. After adjustment for weight., there was no significant difference in UA level between the two groups (P=0.101). Patients in both groups were treated with GH ((0.14±0.03) U/kg, QD). In paternal deletion group, patients were followed up for (26.0±13.6) months, and their height increased from (99.0±31.5) cm [(-0.3±1.1) SDS] to (107.5±27.0) cm [(0.7±0.9) SDS] (P=0.037). In the abnormal methylation group, patients were followed up for (25.8±11.6) months, and their height increased from (86.4±31.2) cm [(-0.7±1.8) SDS] to (95.6±26.5) cm [(0.0±1.6) SDS] (P=0.557). There was no significant difference in body mass index (BMI) between paternal deletion group and abnormal methylation group before and after treatment [(22.0±7.1) vs (22.4±6.8)] kg/m2, P=0.890;(17.0±3.1) vs (16.4±2.7) kg/m2, P=0.754]. Conclusions: There were no significant differences in biochemical test results between patients with paternal deletion and those with abnormal methylation. Early treatment with GH in PWS patients can effectively improve the increasing height and reduce excessive weight gain.
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Síndrome de Prader-Willi , Pré-Escolar , Feminino , Deleção de Genes , Genótipo , Humanos , Masculino , Reação em Cadeia da Polimerase Multiplex , Síndrome de Prader-Willi/genética , Estudos RetrospectivosRESUMO
Objective: To analyze the prevalence and the related factors of dyslipidemia in 21-hydroxylase deficiency (21-OHD) patients. Methods: A total of 205 patients with 21-OHD were recruited in Peking Union Medical College Hospital from January 2016 to January 2018. The basic information, glucocorticoid replacement therapy, and laboratory examination results of patients were obtained from medical records. The genotypes of CYP21A2 were identified by Sanger sequencing and multiplex ligation dependent probe amplification. The prevalence of dyslipidemia among 21-OHD patients, basic information and related hormone levels of 21-OHD patients with different status of blood lipid were described. Logistic regression model was used to analyze the related factors of dyslipidemia in 21-OHD patients. Results: The age of subjects was 17.0 (8.3, 25.0) years old, including 51 males (24.9%). According to CYP21A2 genotypes, there were 16 cases in Null group, 26 cases in Group A, 105 cases in group B, 27 cases in group C, and 31 cases in group D. The incidence of dyslipidemia was 29.3% (60/205), among which 37.3% (19/51) in male and 26.6% (41/154) in female patients, respectively. The M (Q1, Q3) of total cortisol level (nmol/L) and body mass index (kg/m2) of male 21-OHD patients with dyslipidemia were 0.17 (0.06, 0.35) and 25.76 (17.01, 30.45), respectively, which were higher than those with ortholiposis [0.04 (0.02, 0.21) and 18.83 (16.53, 23.88)] (all P<0.05). The M (Q1, Q3) of progesterone level (nmol/L), body mass index (kg/m2) and age (years) of female 21-OHD patients with dyslipidemia were 74.40 (50.97, 98.52), 23.09 (21.78, 27.78) and 23.00 (16.50, 28.00), respectively, which were higher than those with ortholiposis [52.81 (33.41, 68.85), 21.55 (18.63, 25.71) and 18.00 (9.50, 25.00)] (all P<0.05). The risk of dyslipidemia increased by 5.0% [OR (95%CI): 1.05 (1.01, 1.09)] for every 1 nmol/L increase of progesterone. Conclusion: The incidence of dyslipidemia is high in 21-OHD patients, and progesterone level is positively correlated with dyslipidemia.