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O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant genetic disorder caused by mutations in the KMT2E (lysine methyltransferase 2E) gene. The Third Xiangya Hospital of Central South University admitted a 12-year and 9-month-old male patient who presented with growth retardation, intellectual disability, and distinctive facial features. Peripheral blood was collected from the patient, and DNA was extracted for genetic testing. Chromosome karyotyping showed 46XY. Whole-exome sequencing and low-coverage massively parallel copy number variation sequencing (CNV-seq) revealed a 506 kb heterozygous deletion in the 7q22.3 region, which includes 6 genes, including KMT2E. The patient was diagnosed with ODLURO syndrome. Both the patient's parents and younger brother had normal clinical phenotypes and genetic test results, indicating that this deletion was a de novo mutation. The clinical and genetic characteristics of this case can help increase clinicians' awareness of ODLURO syndrome.
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Deficiência Intelectual , Humanos , Masculino , Deficiência Intelectual/genética , Criança , Histona-Lisina N-Metiltransferase/genética , Mutação , Transtornos do Crescimento/genética , Anormalidades Múltiplas/genética , Cromossomos Humanos Par 7/genética , Cariotipagem , Fenótipo , Variações do Número de Cópias de DNA , Sequenciamento do Exoma , Heterozigoto , Contratura , Microcefalia , FáciesRESUMO
The promotion of the booster shots against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is an open issue to be discussed. Little is known about the public intention and the influencing factors regarding the booster vaccine. A cross-sectional survey in Chinese adults was conducted using an online questionnaire, which designed on the basis of protection motivation theory (PMT) scale and vaccine hesitancy scale (VHS). Hierarchical multiple regression was used to compare the fitness of the PMT scale and VHS for predicting booster vaccination intention. Multivariable logistic regression was used to analyze the factors associated with the acceptance. Six thousand three hundred twenty-one (76.8%) of participants were willing to take the booster shot. However, the rest of the participants (23.2%) were still hesitant to take the booster vaccine. The PMT scale was more powerful than the VHS in explaining the vaccination intention. Participants with high perceived severity (adjusted odds ratio [aOR] = 0.69) and response cost (aOR = 0.47) were less willing to take the booster shots, but participants with high perceived susceptibility (aOR = 1.19), response efficacy (aOR = 2.13), and self-efficacy (aOR = 3.33) were more willing to take the booster shots. In summary, interventions based on PMT can provide guidance to ensure the acceptance of the booster vaccine.
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COVID-19 , Vacinas , Adulto , COVID-19/prevenção & controle , China , Estudos Transversais , Humanos , Motivação , SARS-CoV-2 , VacinaçãoRESUMO
BACKGROUND: To understand the status of residents' awareness of and demand for hospice care services in Hangzhou and to provide a reference for promoting the formulation of hospice care-related policies in China. METHODS: A small cross-sectional survey of 519 adults aged over 40 years old living in the rural-urban fringe and urban area of Xihu District, Hangzhou City, was conducted using convenience sampling and a self-designed questionnaire. The measures assessed awareness of hospice care (13-item scale), attitudes towards life support therapy (3-item scale), and demand for hospice care services (9-item scale). RESULTS: The rate of awareness of hospice care among community residents was 50.30%. A total of 51.0% of residents wanted only comfortable life-sustaining treatment at the end of their lives. The acceptance of hospice care was positively correlated with the degree of understanding (x2 = 18.382, P = 0.001), and residents in the urban area were more likely to prefer hospice care than residents in the urban-rural fringe (x2 = 7.186, P = 0.028). Elderly residents showed a stronger tendency to prefer comfortable life support therapy (x2 = 12.988, P < 0.001). A total of 83.04% of the residents accepted the current necessity for hospice care to be provided in medical institutions. The preferred locations were professional hospice care institutions or general hospitals. A total of 93.64% of the residents agreed that the number of beds in hospice care wards should not exceed 2. In addition, the residents could afford part of the out-of-pocket expenses for hospice care services, with the ability to pay under 200 yuan per day, and the improvement of facilities was expected. CONCLUSIONS: To improve public awareness and acceptance of hospice care and promote healthy development in China, it is necessary to promote hospice care education for everyone.
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Conhecimentos, Atitudes e Prática em Saúde , Cuidados Paliativos na Terminalidade da Vida/normas , Características de Residência/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , China , Estudos Transversais , Feminino , Cuidados Paliativos na Terminalidade da Vida/organização & administração , Cuidados Paliativos na Terminalidade da Vida/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, caused by mutations in the SLC12A3 gene, which encodes the renal thiazide-sensitive Na/Cl cotransporter (NCCT) in the distal renal tubule. CASE PRESENTATION: A 23-year-old woman was admitted with limb numbness, recurrent tetany and palpitation. Laboratory tests showed hypokalemic alkalosis, hypomagnesemia, hypocalcemia and secondary hyperaldosteronism, as well as hypocalciuria and transient decreased PTH. Next-generation sequencing detected a novel homozygous mutations c.2039delG in the SLC12A3 gene, and her father and children were all heterozygous carriers. CONCLUSION: We reported a case of GS with a novel homozygous frame-shift mutation of SLC12A3, and reviewed recent literatures about diagnosis, differential diagnosis and treatments. Hypocalcemia in Gitelman syndrome is rare, and may be related to inhibited PTH secretion induced by hypomagnesemia.
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Síndrome de Gitelman/complicações , Síndrome de Gitelman/genética , Hipocalcemia/etiologia , Feminino , Mutação da Fase de Leitura , Heterozigoto , Homozigoto , Humanos , Masculino , Linhagem , Membro 3 da Família 12 de Carreador de Soluto/genética , Adulto JovemAssuntos
Adenomiose , Ablação por Ultrassom Focalizado de Alta Intensidade , Neoplasias Uterinas , Feminino , Humanos , Ablação por Ultrassom Focalizado de Alta Intensidade/efeitos adversos , Adenomiose/cirurgia , Útero/diagnóstico por imagem , Útero/patologia , Neoplasias Uterinas/cirurgia , Resultado do Tratamento , Imageamento por Ressonância MagnéticaRESUMO
BACKGROUND & AIMS: Although endoscopic submucosal dissection (ESD) of colorectal carcinoids is increasing, little is known about long-term outcomes of patients. We investigated the efficacy and safety of ESD of colorectal carcinoids and evaluated long-term outcomes, including local recurrence and metastasis. METHODS: We performed a retrospective analysis of data collected from 239 consecutive patients with colorectal carcinoids <20 mm who underwent endoscopic ultrasonography (to evaluate the size of tumor and the depth of invasion), followed by ESD from January 2007 through October 2012 at the Zhongshan Hospital of Fudan University. Histology and patient data were collected during a median follow-up period of 52 months (range, 25-94 months) to determine tumor stage and type, completeness of resection, complications, tumor recurrence, and distant metastasis. RESULTS: En bloc resection was achieved for all of the 239 treated lesions; tumor tissues were completely resected for 216 of the lesions (90.38%). Eight patients had ESD-related complications (3.35%). As more ESDs were performed by endoscopists, the rate of complete tumor resection increased, and the rate of complications decreased. ESD of carcinoids in colon increased the risk of non-R0 resection and the rate of complications. During the follow-up period, all patients remained free from local recurrence. However, distant metastases were detected in 6 patients (2.51%); lymphovascular invasion was a risk factor for metastasis. CONCLUSIONS: ESD is effective for the resection of rectal carcinoids <20 mm and causes complications in less than 4% of patients. ESD for colonic carcinoids is feasible but associated with a higher non-R0 resection rate and a trend toward higher complications risk. Tumor features and stage determine risk for distant metastasis, so long-term follow-up is essential.
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Tumor Carcinoide/cirurgia , Colonoscopia/métodos , Neoplasias Colorretais/cirurgia , Endoscopia/métodos , Adulto , Idoso , Tumor Carcinoide/patologia , China , Colonoscopia/efeitos adversos , Neoplasias Colorretais/patologia , Endoscopia/efeitos adversos , Feminino , Seguimentos , Histocitoquímica , Hospitais Universitários , Humanos , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Recidiva , Estudos Retrospectivos , Resultado do Tratamento , Adulto JovemRESUMO
Van Wyk-Grumbach syndrome (VWGS) is a rare complication of prolonged untreated juvenile hypothyroidism characterized by precocious puberty and enlarged multicystic ovaries. A 13-year-old girl visited our outpatient clinic due to menstrual irregularities. She had precocious puberty, pituitary hyperplasia and multiple cystic ovaries in addition to clinical signs of severe congenital hypothyroidism. After the initiation of L-thyroxine therapy, the symptoms were alleviated in a short time. This rare syndrome is easy to be misdiagnosed as pituitary and ovarian tumor. High degree of suspicion and timely diagnosis can prevent unnecessary surgical procedures because the symptoms can be reversed with thyroid hormone supplementation.
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Hipotireoidismo Congênito/complicações , Hipotireoidismo Congênito/diagnóstico , Cistos Ovarianos/diagnóstico , Cistos Ovarianos/etiologia , Ovário/patologia , Puberdade Precoce/diagnóstico , Puberdade Precoce/etiologia , Tiroxina/uso terapêutico , Adolescente , Hipotireoidismo Congênito/etiologia , Diagnóstico Diferencial , Erros de Diagnóstico , Feminino , Humanos , Hiperpituitarismo , Hiperplasia , Distúrbios Menstruais/etiologia , Hipófise/patologia , SíndromeRESUMO
PURPOSE: To investigate MR characteristics in differentiating primary hepatic neuroendocrine neoplasm (PHNEN) from metastatic hepatic neuroendocrine neoplasm (MHNEN). MATERIALS AND METHODS: Thirty-nine patients with histopathologically proven liver neuroendocrine neoplasm were retrospectively analyzed. The morphological and MR signal features on T1, T2-weighted, dynamic-enhanced, and diffusion-weighted imaging were evaluated and compared between the PHNEN group (n = 12) and the MHNEN group (n = 27). RESULTS: The tumor size (P = 0.0084), number (P = 0.017), distribution (P = 0.000), contour (P = 0.041), the presence of capsule-like enhancement (P = 0.034), tumor homogeneity (P = 0.018) and the apparent diffusion coefficient (ADC) values (P = 0.024) were different between PHNENs and MHNENs. Large, solitary or massive-growing nodules with lobulated or irregular contour, capsule-like enhancement, heterogeneous signals or lower ADC values supported the diagnosis of PHNEN compared with MHNEN. ROC analysis demonstrated an area under the curve of 0.746, when the optimal cutoff value of 1.049 × 10(-3) mm(2)/s was used, a sensitivity of 63.0 % (95 % CI, 44.2-79.4 %), a specitivity of 80.0 % (95 % CI, 50.1-96.4 %), a positive predictive value of 89.5 % (95 % CI, 70.9-98.2 %), and a negative predictive value of 44.4 % (95 % CI, 23.4-67.0 %) can be achieved. CONCLUSIONS: MRI may provide valuable information for the diagnosis and differential diagnosis of PHNENs and MHNENs.
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Neoplasias Hepáticas/patologia , Imageamento por Ressonância Magnética/métodos , Tumores Neuroendócrinos/patologia , Adulto , Biomarcadores Tumorais/análise , Meios de Contraste , Diagnóstico Diferencial , Imagem de Difusão por Ressonância Magnética , Feminino , Gadolínio DTPA , Humanos , Aumento da Imagem/métodos , Testes de Função Hepática , Neoplasias Hepáticas/secundário , Masculino , Pessoa de Meia-Idade , Tumores Neuroendócrinos/secundário , Valor Preditivo dos Testes , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
Schizophrenia impacts about 1 % of the global population, with clozapine (CLZ) being a critical treatment for refractory cases despite its limitations in effectiveness and adverse effects. Therefore, the search for more effective treatments remains urgent. Light treatment (LT) recognized for enhancing cognition and mood, presents a promising complementary approach. This study investigated the effects of CLZ and LT on cognitive impairments in a sub-chronic MK-801 induced schizophrenia mouse model. Results showed that both CLZ and CLZ + LT treatment elevate cognitive performance of sub-chronic MK-801 treated mice in serial behavioral tests over two months. Histological analysis revealed increased dendritic spine density and branching, and synaptic repair in the hippocampus with CLZ and CLZ + LT interventions. Furthermore, both treatments increased brain-derived neurotrophic factor (BDNF) expression in the hippocampus, likely contributing to cognitive amelioration in MK-801 treated mice. Additionally, BrdU labeling revealed that CLZ + LT further enhances neurogenesis in the dentate gyrus (DG) and lateral ventricle (LV) of sub-chronic MK-801 treated mice. These findings may have implications for the development of noninvasive and adjunctive treatment strategies aimed at alleviating cognitive impairments and improving functional outcomes in individuals with schizophrenia.
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Introduction: This study explored the associations of intrinsic capacity (IC), fall risk, and frailty in geriatric inpatients. Methods: A total of 703 hospitalized patients aged 75 years or older were recruited for this retrospective observational study from Zhejiang Hospital using a comprehensive geriatric assessment. The IC composite score was constructed from the scores of the Chinese version of the Mini-Mental State Examination, Short Physical Performance Battery, Short Form Mini Nutritional Assessment, 15-item Geriatric Depression Scale, and self-reported hearing and vision impairment. Adverse outcomes were recorded as the fall risk and frailty using the Morse Fall Scale and the Clinical Frailty Scale. Spearman's correlation coefficient analyses and multivariate logistic regression models were used to explore the associations between IC, high fall risk, and frailty. Results: Declined IC composite scores were associated with increased risks of falls [odds ratio (OR) = 0.64, 95% confidence interval (CI): 0.57-0.72] and frailty (OR = 0.45, 95%CI: 0.37-0.54) among older hospitalized patients after adjusting for the related potential confounders. In addition, decreased cognitive, vitality, locomotion, and psychological scores were associated with increased adverse health conditions, with ORs ranging from 0.26 to 0.70. Vision impairment was observed to increase the risk of frailty (OR = 0.42, 95%CI: 0.23-0.76) after adjusting for the related potential confounders. Discussion: This study indicated that declined IC was associated with fall risk and frailty in older inpatients. Further prospective studies are needed to explore the longitudinal associations between baseline IC and subsequent risk of falls and frailty.
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Fragilidade , Humanos , Idoso , Fragilidade/epidemiologia , Pacientes Internados , Avaliação Nutricional , Estudos Prospectivos , Estudos RetrospectivosRESUMO
The study aims to explore the online teaching design of ideological and political education (IPE). Based on the relevant theories of deep learning (DL) and visual sensing, the students of a Chinese University are taken as the research samples and investigated by a questionnaire survey. Then, DL and visual sensing are introduced into the online teaching design of IPE, and the research conclusions are obtained. The results show that college students are interested in IPE, but there are still some problems in the actual teaching process. For example, 60% of the students do not know the learning objectives of IPE, and 19.7% are not familiar with the learning contents; based on the image semantic analysis of the curriculum of IPE, DL mainly focuses on model construction and data processing, and visual sensing is used to classify image pixels; the students' concentration time is changed from 29 minutes to 30.4 minutes, and their efficiency of homework submission is also improved based on DL and visual sensing. The study has a great reference for ideological and political teaching in the future.
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Aprendizado Profundo , Currículo , Humanos , Política , Tecnologia , UniversidadesRESUMO
BACKGROUND: The global prevalence of autism spectrum disorder (ASD) is on the rise, and high levels of exposure to toxic heavy metals may be associated with this increase. Urine analysis is a noninvasive method for investigating the accumulation and excretion of heavy metals. The aim of this study was to identify ASD-associated urinary metal markers. METHODS: Overall, 70 children with ASD and 71 children with typical development (TD) were enrolled in this retrospective case-control study. In this metallomics investigation, inductively coupled plasma mass spectrometry was performed to obtain the urine profile of 27 metals. RESULTS: Children with ASD could be distinguished from children with TD based on the urine metal profile, with ASD children showing an increased urine metal Shannon diversity. A metallome-wide association analysis was used to identify seven ASD-related metals in urine, with cobalt, aluminum, selenium, and lithium significantly higher, and manganese, mercury, and titanium significantly lower in the urine of children with ASD than in children with TD. The least absolute shrinkage and selection operator (LASSO) machine learning method was used to rank the seven urine metals in terms of their effect on ASD. On the basis of these seven urine metals, we constructed a LASSO regression model for ASD classification and found an area under the receiver operating characteristic curve of 0.913. We also constructed a clinical prediction model for ASD based on the seven metals that were different in the urine of children with ASD and found that the model would be useful for the clinical prediction of ASD risk. CONCLUSIONS: The study findings suggest that altered urine metal concentrations may be an important risk factor for ASD, and we recommend further exploration of the mechanisms and clinical treatment measures for such alterations.
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Transtorno do Espectro Autista , Metais Pesados , Criança , Humanos , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/etiologia , Estudos de Casos e Controles , Estudos Retrospectivos , Modelos Estatísticos , Prognóstico , Espectrometria de MassasRESUMO
The chamber method is widely used to measure CO2 and CH4 flux in inland water. However, the designs of chamber used in various studies are different and lack unified standards, which would affect the observation results. To clarify the impacts of chamber characteristics, including light transmittance, air pressure difference inside and outside the chamber, and gas mixing degree in the chamber, on CO2 and CH4 flux measurements at the water-air interface, we compared the effects of transparent/opaque chamber, the chamber with/without air pressure equalizing device and fan on CO2 and CH4 flux measurements in the aquaculture pond, based on the multi-channel closed dynamic chamber system. The results showed that, during the daytime in summer, compared with the transparent chamber which could measure the actual CO2 flux, when CO2 was emitted from the pond, the opaque chamber overestimated the CO2 flux by 90%; when CO2 was absorbed by the pond, the opaque chamber underestimated the CO2 flux by 50%. The CH4 diffusion flux measured by the opaque chamber was 40% lower than that measured by the transparent chamber. There was no significant difference between CO2 and CH4 flux measured by the chamber with and without air pressure equalizing device. CO2 flux observed by the chamber without fan had poor representativeness, being 20% higher than that observed by the chamber with fan. Moreover, CH4 flux emitted through different pathways could not be distinguished using the chamber without fan. Therefore, when the chamber method was used to observe the CO2 and CH4 flux at the water-air interface, the chamber shall be transparent and be installed with fan.
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Dióxido de Carbono , Metano , Aquicultura , Óxido Nitroso , Estações do Ano , ÁguaRESUMO
Although croplands are known to be strong sources of anthropogenic N2O, large uncertainties still exist regarding their emission factors, that is, the proportion of N in fertilizer application that escapes to the atmosphere as N2O. In this study, we report the results of an experiment on the N2O flux in a landscape dominated by rice cultivation in the Yangtze River Delta, China. The observation was made with a closed-path eddy covariance system on a 70-m tall tower from October 2018 to December 2020 (27 months). Temperature and precipitation explained 78% of the seasonal and interannual variability in the observed N2O flux. The growing season (May to October) mean flux (1.14 nmol m-2 s-1) was much higher than the median flux found in the literature for rice paddies. The mean N2O flux during the observational period was 0.90 ± 0.71 nmol m-2 s-1, and the annual cumulative N2O emission was 7.6 and 9.1 kg N2O-N ha-1 during 2019 and 2020, respectively. The corresponding landscape emission factor was 3.8% and 4.6%, respectively, which were much higher than the IPCC default direct (0.3%) and indirect emission factors (0.75%) for rice paddies.
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Poluentes Atmosféricos , Oryza , Agricultura , Poluentes Atmosféricos/análise , China , Monitoramento Ambiental , Fertilizantes/análise , Óxido Nitroso/análise , SoloRESUMO
As an important source of greenhouse gases, the changes in greenhouse gas concentrations of aquaculture ponds are not only the basis for accurate quantification of greenhouse gases emissions but are also important for identifying their influencing factors. The spatial and temporal variation characteristics of CH4, CO2, and N2O concentrations and the influencing factors in a typical small aquaculture pond in the Yangtze River Delta were analyzed based on the headspace equilibrium-gas chromatograph method. Except in spring, the concentrations of CH4, and N2O appeared high at noon or afternoon and were influenced by water temperature. Impacted by water temperature and aquatic plant photosynthesis, the concentrations of CO2 were high in the morning when photosynthesis was weak. The concentrations of CH4 and CO2 were the highest in autumn and the lowest in winter. The mean concentrations of CH4 in autumn and winter were 176.34 nmol·L-1 and 32.75 nmol·L-1, respectively, which were mainly affected by air temperature, water temperature, and dissolved oxygen. The average CO2 concentrations in autumn and winter were 134.37 µmol·L-1 and 23.10 µmol·L-1, respectively, and were mainly affected by aquatic vegetation photosynthesis and pH. N2O concentration was the highest in summer and the lowest in winter, with mean values of 97.05 nmol·L-1 and 19.41 nmol·L-1, respectively, which were mainly affected by air temperature and water temperature. In terms of the vertical spatial variations of the three greenhouse gases, the concentration of CH4decreased with water depth in summer, and the concentration differences between the surface layer and the bottom and middle layers were 71.28 nmol·L-1 and 42.80 nmol·L-1, respectively. The concentration of CH4 increased with water depth in autumn, and the concentration difference between the bottom layer and surface layer was 163.94 nmol·L-1. The CO2 concentration increased with water depth in summer and autumn. The concentration differences between the bottom and surface concentrations were 18.69 µmol·L-1 and 29.90 µmol·L-1, respectively. N2O concentration showed no obvious change in the vertical direction. For the horizontal variations, the concentrations of CH4, CO2, and N2O in the feeding area in summer and in chicken manure in spring were approximately 1.34-1.98 times and 1.95-2.42 times those in other areas, respectively, and the concentrations of N2O and CO2 in spring and summer were approximately 1.13-1.26 times and 1.39-1.74 times those in other areas.
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Gases de Efeito Estufa , Metano , Aquicultura , Dióxido de Carbono/análise , Metano/análise , Óxido Nitroso/análise , Lagoas , ÁguaRESUMO
BACKGROUND: High glucose induced lipid synthesis leads to ß cell glucolipotoxicity. Sterol regulatory element binding protein-1c (SREBP-1c) is reported to be partially involved in this process. Insulin induced gene-1 (Insig-1) is an important upstream regulator of Insig-1-SREBPs cleavage activating protein (SCAP)-SREBP-1c pathway. Insig-1 effectively blocks the transcription of SREBP-1c, preventing the activation of the genes for lipid biosynthesis. In this study, we aimed to investigate whether Insig-1 protects ß cells against glucolipotoxicity. METHODS: An Insig-1 stable cell line was generated by overexpression of Insig-1 in INS-1 cells. The expression of Insig-1 was evaluated by RT-PCR and Western blotting, then, cells were then treated with standard (11.2 mM) or high (25.0 mM) glucose for 0 h, 24 h and 72 h. Cell viability, apoptosis, glucose stimulated insulin secretion (GSIS), lipid metabolism and mRNA expression of insulin secretion relevant genes such as IRS-2, PDX-1, GLUT-2, Insulin and UCP-2 were evaluated. RESULTS: We found that Insig-1 suppressed the high glucose induced SREBP-1c mRNA and protein expression. Our results also showed that Insig-1 overexpression protected ß cells from ER stress-induced apoptosis by regulating the proteins expressed in the IRE1α pathway, such as p-IRE1α, p-JNK, CHOP and BCL-2. In addition, Insig-1 up-regulated the expression of IRS-2, PDX-1, GLUT-2 and Insulin, down-regulated the expression of UCP-2 and improved glucose stimulated insulin secretion (GSIS). Finally, we found that Insig-1 inhibited the lipid accumulation and free fatty acid (FFA) synthesis in a time-dependent manner. CONCLUSIONS: There results suggest that Insig-1 may play a critical role in protecting ß cells against glucolipotoxicity by regulating the expression of SREBP-1c.
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Regulação da Expressão Gênica/fisiologia , Células Secretoras de Insulina/metabolismo , Lipídeos/toxicidade , Proteínas de Membrana/metabolismo , Transdução de Sinais/fisiologia , Proteína de Ligação a Elemento Regulador de Esterol 1/metabolismo , Animais , Apoptose/fisiologia , Western Blotting , Linhagem Celular Tumoral , Estresse do Retículo Endoplasmático/fisiologia , Insulina/metabolismo , Secreção de Insulina , Peptídeos e Proteínas de Sinalização Intracelular , Lipídeos/biossíntese , Ratos , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
Patients with thyrotoxicosis are prone to transient hypocalcemia after thyroidectomy, which may be due in part to surgical damage to the parathyroid glands. Hungry bone syndrome (HBS) can also cause hypocalcemia after thyroidectomy. HBS is due to increased osteoblast-mediated bone formation activity and normal or decreased bone resorption activity. As HBS is uncommon in patients after thyroidectomy, we herein present a case of hypocalcemia secondary to HBS after subtotal thyroidectomy for thyrotoxicosis in a 25-year-old woman with a two-month history of tingling extremities and carpopedal spasms after subtotal thyroidectomy for thyrotoxicosis. Diagnostic tests showed hypocalcemia and hyperphosphatemia with elevated parathyroid hormone levels and moderately decreased serum 25-hydroxyvitamin D levels. In addition to thyroid hormone replacement therapy, she was given calcitriol and Caltrate D (600 mg calcium plus 125 IU cholecalciferol). After two months of treatment, she no longer had spasms and her paresthesia improved. Meanwhile, serum electrolytes and parathyroid hormone levels had almost returned to the normal ranges. This is a rare case of HBS presented as a complication of subtotal thyroidectomy in a patient with thyrotoxicosis.
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Hipocalcemia/diagnóstico , Hipotireoidismo/diagnóstico , Complicações Pós-Operatórias/diagnóstico , Tireoidectomia/efeitos adversos , Tireotoxicose/diagnóstico , Tireotoxicose/cirurgia , Adulto , Calcitriol/administração & dosagem , Feminino , Humanos , Hipocalcemia/tratamento farmacológico , Hipocalcemia/etiologia , Hipotireoidismo/tratamento farmacológico , Hipotireoidismo/etiologia , Complicações Pós-Operatórias/tratamento farmacológico , Complicações Pós-Operatórias/etiologia , Síndrome , Tireoidectomia/tendências , Tiroxina/administração & dosagemRESUMO
A new subcategory, grade 3 neuroendocrine tumors, is incorporated into the grading system of pancreatic neuroendocrine neoplasms in the 2017 WHO classification in order to differentiate grade 3 neuroendocrine tumors from neuroendocrine carcinomas. The 2019 WHO classification extends the concept of grade 3 neuroendocrine tumors to gastrointestinal high-grade neuroendocrine neoplasms. However, there is still limited study focusing on the gastric grade 3 neuroendocrine tumors and gastric neuroendocrine carcinomas. We retrospectively enrolled 151 gastric high-grade neuroendocrine neoplasms patients, who underwent radical resection from January 2007 to December 2015. Clinicopathologic and prognostic features were studied. The Surveillance, Epidemiology, and End Results (SEER) database was used to verify the prognostic determinants found in the Zhongshan cohort. Neuroendocrine carcinomas showed a higher Ki67 index and higher mitotic count than grade 3 neuroendocrine tumors. We identified 109 (72.2%) patients with neuroendocrine carcinomas, 12 (7.9%) patients with grade 3 neuroendocrine tumors, and 30 (19.9%) patients with mixed neuroendocrine-non-neuroendocrine neoplasms. Although neuroendocrine carcinomas demonstrated higher Ki67 index (P = 0.004) and mitoses (P = 0.001) than grade 3 neuroendocrine tumors, their prognosis after radical resection did not demonstrate significant differences (P = 0.709). Tumor size, perineural invasion, and TNM stage were independent prognostic factors of gastric high-grade neuroendocrine neoplasms.
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OBJECTIVE: To study whether substantial subcutaneous adipose tissue (SCAT) can induce glucose and lipid metabolism dysfunction and possible underlying mechanisms. METHODS: We report a male patient with multiple symmetrical lipomatosis (MSL) suffering from increased adipose tissue accumulation in abdomen and back for 7 years, accompanied by the gradual expansion of excess adipose tissue to the nuchal region, upper thorax, upper arms and shoulders. Four obese male adults of similar age and body mass index were chosen as controls (only 4 subjects consented to blood and tissue sampling).Blood samples were collected before anesthesia in the early morning after overnight fasting, and tissue samples from all subjects and the patient were obtained under general anesthesia. Glucose tolerance, insulin resistance in the oral glucose tolerance test and insulin-releasing test were studied. A pathologic examination was made and expression of SCAT-related genes was determined. RESULTS: Although adipose tissue mainly accumulated in SCAT, the patient had no impaired glucose tolerance, insulin resistance and dyslipidemia. Importantly, the circulating adiponectin concentration was higher than in the control group (50.3 +/- 3.2 vs. 28.4 +/- 2.2 microg/ml, p < 0.05). Accordingly, adiponectin and leptin mRNA expression in SCAT was higher than in the control group (1.83 and 3.75 times, p < 0.05) but TNF-alpha and IL-6 mRNA levels were lower (decreased by 79 and 45%, p < 0.05). Furthermore, pathologically, adipocyte size in the patient's SCAT was smaller than in the control group (66.2 +/- 6.1 vs. 78.9 +/- 6.6 and 98.6 +/- 12.8 microm in SCAT and omentum adipose tissue, respectively, p < 0.05). CONCLUSION: In spite of the patient's SCAT accumulation, glucose and lipid metabolism dysfunction was absent. The mechanism may involve the interaction of different factors, including the subcutaneous formation of small adipocytes, the secretion of protective adipokines such as adiponectin and anti-inflammatory effects of SCAT.
Assuntos
Adipócitos/metabolismo , Transtornos do Metabolismo de Glucose/metabolismo , Lipomatose Simétrica Múltipla/metabolismo , Gordura Subcutânea/fisiopatologia , Adipocinas/metabolismo , Adipocinas/farmacologia , Estudos de Casos e Controles , Transtornos do Metabolismo de Glucose/fisiopatologia , Teste de Tolerância a Glucose , Humanos , Resistência à Insulina , Metabolismo dos Lipídeos , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To investigate the effect and mechanism of glucagon like peptide 1(GLP-1)on the proliferation and differentiation of endothelial progenitor cells(EPCs)derived from the peripheral blood. METHODS: Mononuclear cells were isolated from human peripheral blood by density gradient centrifugation. After 7 days of culture,attached cells were stimulated with different cultures of 0.2% BSA,and GLP-1(1,10,and 20 nmol/L). Laser scanning confocal microscope was used to determine the EPCs from human peripheral blood.The activity of EPCs was observed under reverse microscope. MTT was used to determine the proliferation of EPCs. The expression of KDR,Flt-1,VE-cadherin,and eNOS mRNA was detected by RT-PCR.The concentration of serum VEGF was detected by ELISA. The expression of VEGF protein was detected by immunohistochemical SP method. The EPCs cultured in GLP-1 were intervened by VEGFmAb. RESULTS: EPCs was proliferated more in the GLP-1 group(1,10,and 20 nmol/L) than in the control group (P<0.05 or P<0.01). The expression of KDR,FLT-1,VE-cadherin,eNOS mRNA and VEGF protein was higher than that in the control group(P<0.05 or P<0.01). VEGFmAb(100 ng/mL)down-regulated the expression of KDR,Flt-1,VE-cadherin,and eNOS mRNA. CONCLUSION: GLP-1 can promote the proliferation and differentiation of EPCs derived from the peripheral blood by up-regulating VEGF autocrine.