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1.
Am J Med Genet A ; : e63598, 2024 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-38501757

RESUMO

Primary microcephaly is characterized by a head circumference prenatally or at birth that falls below three standard deviations from age-, ethnic-, and sex-specific norms. Genetic defects are one of the underlying causes of primary microcephaly. Since 2014, five variants of the SASS6 gene have been identified as the cause of MCPH 14 in three reported families. In this study, we present the genetic findings of members of a nonconsanguineous Chinese couple with a history of microcephaly and fetal growth restriction (FGR) during their first pregnancy. Utilizing trio whole-exome sequencing, we identified compound heterozygous variants involving a frameshift NM_194292.3:c.450_453del p.(Lys150AsnfsTer7) variant and a splice region NM_194292.3:c.1674+3A>G variant within the SASS6 gene in the affected fetus. Moreover, reverse transcriptase-polymerase chain reaction from RNA of the mother's peripheral blood leukocytes revealed that the c.1674+3A>G variant led to the skipping of exon 14 and an inframe deletion. To the best of our knowledge, the association between FGR and SASS6-related microcephaly has not been reported, and our findings confirm the pivotal role of SASS6 in microcephaly pathogenesis and reveal an expanded view of the phenotype and mutation spectrum associated with this gene.

2.
J Matern Fetal Neonatal Med ; 37(1): 2324348, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38466173

RESUMO

OBJECTIVE: To evaluate the clinical value of ultrasound findings in the screening of fetal chromosomal abnormalities and the analysis of risk factors for chromosome microarray analysis (CMA) abnormalities. METHODS: We retrospectively analyzed the datasets of 15,899 pregnant women who underwent prenatal evaluations at Affiliated Maternity and Child Health Care Hospital of Nantong University between August 2018 and December 2022. Everyone underwent ultrasound screening, and those with abnormal findings underwent CMA to identify chromosomal abnormalities. RESULTS: The detection rates for isolated ultrasound anomalies and combined ultrasound and CMA anomalies were 11.81% (1877/15,899) and 2.40% (381/15,899), respectively. Among all ultrasound abnormalities, detection rates for isolated ultrasound soft marker anomalies, isolated structural abnormalities, and both ultrasound soft marker anomalies with structural abnormalities were 82.91% (1872/2258), 15.99% (361/2258), and 1.11% (25/2258), respectively. The detection rate of abnormal chromosomes in pregnant women with abnormal ultrasound results was 16.87% (381/2258). The detection rates were 13.33% in cases with two or more ultrasound soft markers anomalies, 47.37% for two or more structural anomalies, and 48.00% for concomitant ultrasound soft marker and structural anomalies. CONCLUSIONS: Enhanced detection rates of chromosomal anomalies in fetal malformations are achieved with specific ultrasound findings (NT thickening, cardiovascular abnormalities, and multiple soft markers) or when combined with high-risk factors (advanced maternal age, familial history, parental chromosomal anomalies, etc.). When the maternal age is over 35 and with ≥2 ultrasound soft marker anomalies accompanied with any high-risk factors, CMA testing can aid in the diagnosis of prenatal chromosomal abnormalities.


Assuntos
Aberrações Cromossômicas , Diagnóstico Pré-Natal , Gravidez , Criança , Feminino , Humanos , Estudos Retrospectivos , Análise em Microsséries , Vitaminas , Cromossomos , Ultrassonografia Pré-Natal
3.
Signal Transduct Target Ther ; 9(1): 38, 2024 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-38413567

RESUMO

Metabolic diseases and their complications impose health and economic burdens worldwide. Evidence from past experimental studies and clinical trials suggests our body may have the ability to remember the past metabolic environment, such as hyperglycemia or hyperlipidemia, thus leading to chronic inflammatory disorders and other diseases even after the elimination of these metabolic environments. The long-term effects of that aberrant metabolism on the body have been summarized as metabolic memory and are found to assume a crucial role in states of health and disease. Multiple molecular mechanisms collectively participate in metabolic memory management, resulting in different cellular alterations as well as tissue and organ dysfunctions, culminating in disease progression and even affecting offspring. The elucidation and expansion of the concept of metabolic memory provides more comprehensive insight into pathogenic mechanisms underlying metabolic diseases and complications and promises to be a new target in disease detection and management. Here, we retrace the history of relevant research on metabolic memory and summarize its salient characteristics. We provide a detailed discussion of the mechanisms by which metabolic memory may be involved in disease development at molecular, cellular, and organ levels, with emphasis on the impact of epigenetic modulations. Finally, we present some of the pivotal findings arguing in favor of targeting metabolic memory to develop therapeutic strategies for metabolic diseases and provide the latest reflections on the consequences of metabolic memory as well as their implications for human health and diseases.


Assuntos
Hiperglicemia , Doenças Metabólicas , Humanos , Doenças Metabólicas/genética
4.
Lasers Med Sci ; 39(1): 36, 2024 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-38236306

RESUMO

Diabetes mellitus (DM) is a chronic age-related disease that was recently found as a secondary aging pattern regulated by the senescence associated secretory phenotype (SASP). The purpose of this study is to detect the potential efficacy and the specific mechanisms of low-level laser therapy (LLLT) healing of age-related inflammation (known as inflammaging) in diabetic periodontitis. Diabetic periodontitis (DP) mice were established by intraperitoneal streptozotocin (STZ) injection and oral P. gingivalis inoculation. Low-level laser irradiation (810 nm, 0.1 W, 398 mW/cm2, 4 J/cm2, 10 s) was applied locally around the periodontal lesions every 3 days for 2 consecutive weeks. Micro-CT and hematoxylin-eosin (HE) stain was analyzed for periodontal soft tissue and alveolar bone. Western blots, immunohistochemistry, and immunofluorescence staining were used to evaluate the protein expression changes on SASP and GLUT1/mTOR pathway. The expression of aging-related factors and SASP including tumor necrosis factor-α, interleukin (IL)-1ß, and IL-6 were reduced in periodontal tissue of diabetic mice. The inhibitory effect of LLLT on GLUT1/mTOR pathway was observed by detecting the related factors mTOR, p-mTOR, GLUT1, and PKM2. COX, an intracytoplasmic photoreceptor, is a key component of the anti-inflammatory effects of LLLT. After LLLT treatment a significant increase in COX was observed in macrophages in the periodontal lesion. Our findings suggest that LLLT may regulate chronic low-grade inflammation by modulating the GLUT1/mTOR senescence-related pathway, thereby offering a potential treatment for diabetic periodontal diseases.


Assuntos
Diabetes Mellitus Experimental , Terapia com Luz de Baixa Intensidade , Periodontite , Animais , Camundongos , Transportador de Glucose Tipo 1 , Diabetes Mellitus Experimental/complicações , Diabetes Mellitus Experimental/radioterapia , Inflamação/radioterapia , Interleucina-1beta , Periodontite/radioterapia
5.
Cell Mol Biol (Noisy-le-grand) ; 69(7): 104-108, 2023 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-37715415

RESUMO

Cancer is one of the leading causes of human death worldwide. One of the most common types of malignancy among women is breast cancer, which is the third most common cancer in the world after lung and stomach cancer. This study aimed to evaluate the expression level of Tissue Differentiation-Inducing Non-Protein Coding RNA (TINCR) in adjacent tumor and non-tumor tissues of 60 women with invasive ductal breast cancer. The relationship between TINCR expression and the clinical characteristics of patients has also been studied. For this purpose, total RNA was isolated from breast cancer patients' adjacent tumor and non-tumor tissue. RT Prime Script reagent was then used to convert total RNA to cDNA. The qRT-PCR quantified the TINCR expression level and analyzed the results by paired t-test. In addition, ROC curve analysis was used to evaluate the biomarker power of TINCR in breast cancer tumor tissues. According to the results, a decrease in the level of TINCR was obtained in the tumor tissue of breast cancer patients compared to the adjacent non-tumor tissue (P<0.001). TINCR expression was negatively correlated with tumor size and lymph node metastasis in breast cancer tumor tissue. In general, the decrease in the expression level of TINCR in the tumor tissue of breast cancer patients shows that its expression level can differentiate the adjacent tumor and non-tumor tissue from each other. In addition, TINCR has a lower expression level in breast cancer patients with large tumors, lymph node metastasis, and luminal subgroups A and B.


Assuntos
Neoplasias da Mama , RNA Longo não Codificante , Feminino , Humanos , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , DNA Complementar , Metástase Linfática , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo
6.
Cell Mol Biol (Noisy-le-grand) ; 69(2): 115-120, 2023 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-37224036

RESUMO

It was to investigate the value of quantitative fluorescence PCR (QF-PCR) for the selection of specific short tandem repeat (STR) in prenatal diagnosis of fetal chromosomal diseases. Amniotic fluid (AF) and villus samples were obtained from 80 pregnant women at 16-20 weeks of gestation, and venous blood samples were obtained from 60 normal individuals to extract and prepare peripheral blood chromosome, AF cell chromosome, and villus cell chromosome samples for specific STR locus detection. It showed that the area ratio of AMX peak to AMY peak in the Genescan typing map of peripheral blood DNA of normal males was close to 1:1, while the Genescan typing map of peripheral blood DNA of normal females had only AMX peak and no AMY peak. Normal heterozygous individuals had an area ratio between 1 and 1.45 for venous blood, 1.002 and 1.27 for villous samples, and 1 and 1.35 for AF samples. The karyotype of a male fetus was 46, XY, inv [9] (p11: q13), and the structure of fetal chromosome 9 was inverted (interarm), and the site of structural inversion was band 1 in the short breech 1 region and band 3 in the long arm 1 region of chromosome 9. It suggested that QF-PCR can effectively identify the normal human body and cases by selecting specific STR locus detection, which has a good application value for prenatal diagnosis of fetal chromosomal diseases.


Assuntos
Cromossomos Humanos Par 9 , Diagnóstico Pré-Natal , Gravidez , Humanos , Feminino , Masculino , Feto , Fluorescência , Repetições de Microssatélites/genética
7.
Front Endocrinol (Lausanne) ; 14: 1165890, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36960393

RESUMO

Objective: To explore the difference in parathyroid tissue-derived cells between male and female PHPT patients. Methods: Resected parathyroid tissues were collected from PHPT patients of both sexes. Single cells were isolated and sequenced for RNA expression profiles. The cell sequencing data were annotated by cell type, followed by population analysis, functional analysis, pathway analysis, cell communication analysis, differential gene expression analysis, and pseudotime trajectory analysis. The subcluster analyses were also performed in the parathyroid cells. Results: No substantial difference in the cell population, function, or communication is found between the two sexes. The interferon-a response, oxidative phosphorylation, and reactive oxygen species pathways are up-regulated in females than in male patients, mainly contributed by fibroblast cells, endothelial cells, parathyroid cells, and myeloid cells, which also have significantly more up-regulated pathways and cellular interactions than the other three cell types. The subcluster analysis of parathyroid cells identified five subpopulations: SPARCL1-OC and ISG15-OC are predominant in females, while more S100A13-PCC and PTHLH-OC are found in males. The cellular functions are also elevated in females compared with males. Cells from female patients show a higher expression level of parathyroid hormone (PTH) but a lower expression level of parathyroid hormone-like hormone (PTHLH). The cell pseudotime trajectory and pathway analyses show that the oxyphil cells may be more mature and functionally active than the chief cells in both sexes. Conclusion: These findings suggest that the sex difference in PHPT may be caused by the differentially expressed genes and activated pathways in different cell types in the parathyroid tissue. The heterogeneity of parathyroid cell subpopulations, especially in oxyphil cells, may be associated with the sex differences in PHPT pathogenesis.


Assuntos
Hiperparatireoidismo Primário , Humanos , Feminino , Masculino , Hiperparatireoidismo Primário/genética , Hiperparatireoidismo Primário/metabolismo , Caracteres Sexuais , Células Endoteliais/metabolismo , Hormônio Paratireóideo/genética , Hormônio Paratireóideo/metabolismo , Análise de Sequência de RNA
8.
Am Surg ; 89(6): 2450-2454, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35570721

RESUMO

BACKGROUND: To measure total type 1 serum amino-terminal propeptide procollagen (t-P1NP), ß- type 1 cross-linked C-terminal telopeptide collagen (ß-CTX), N-terminal osteocalcin (OC), and 25-(OH)-VD3 levels before parathyroidectomy (PTX) in patients with PHPT, and correlate these measurements with bone mineral density (BMD) changes at 1-year post-PTX. METHODS: Patients with primary hyperparathyroidism (PHPT) were followed from diagnosis to 12 months after surgery. Serum levels of calcium, parathyroid hormone (PTH), vitamin 25-(OH)-VD3, OC, ß-CTX, t-P1NP, and BMD were measured before and 1 year after surgery. RESULTS: One year after PTX, mean BMD increased by 25.7, 27.7, and 33.5% in the lumbar spine (L1-L4), femoral neck (FN), and greater trochanter (GT), respectively. Percent BMD change 1-year post-PTX was significant correlated with preoperative levels of ß-CTX (L1-L4: r = 0.41, P < 0.0001; FN: r = 0.54, P = 0.0003; GT: r = 0.46, P = 0.0029), t-P1NP (L1-L4: r = 0.58, P < 0.0001; FN: r = 0.73, P < 0.0001; GT: r = 0.65, P < 0.0001), 25-(OH)-VD3 (L1-L4: r = -0.33, P = 0.034; FN: r = -0.48, P = 0.002; GT: r = -0.52, P = 0.0007), and OC (L1-L4: r = 0.49, P = 0.0013; FN: r = 0.55, P = 0.0002; GT: r = 0.47, P = 0.002). CONCLUSIONS: Preoperative levels of turnover markers and BMD improvements were significantly correlated in patients with PHPT 1 year after PTX.


Assuntos
Densidade Óssea , Hiperparatireoidismo Primário , Humanos , Paratireoidectomia , Hormônio Paratireóideo , Hiperparatireoidismo Primário/cirurgia , Colágeno , Biomarcadores
9.
Front Endocrinol (Lausanne) ; 12: 704596, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34385977

RESUMO

Background: The staging system for patients with anaplastic thyroid cancer (ATC) was updated in the 8th edition of the American Joint Committee on Cancer Staging Manual. A cut-off age of 55 years was stipulated as a prognostic factor for differentiated thyroid cancer; however, age was not considered for ATC patients. To this end, this study investigated the relationship between age at diagnosis and prognosis of ATC patients. Methods: The clinical information on ATC patients was acquired from the Surveillance, Epidemiology, and End Results Program public database. Youden's index and X-tile analyses were used to calculate the high-point age at diagnosis associated with prognosis. Cox proportional hazards models, Kaplan-Meier curves, and 1000-person-year were then used for verifying the accuracy of the high-point age. Results: After inclusion/exclusion criteria was applied, 586 patients were included in this study. The high-point age was determined to be 70 years by both the Youden's index and X-tile plot methods. The hazard ratio was 1.662 (95% confidence interval [CI]: 1.321-2.092), indicating that there was an increased risk of poor prognosis for patients > 70 years of age. The cancer-specific mortality rates per 1000-person-years for patients ≤ and > 70 years-old were 949.980 (95% CI: 827.323-1090.822) and 1546.667 (95% CI: 1333.114-1794.428), respectively. P-values were < 0.001 for the results shown above. Conclusion: Our study found that age influenced the prognosis of ATC patients. Furthermore, we determined that the high-point age at diagnosis was 70 years and that > 70 years of age was associated with a poor prognosis. These results provide a useful addition to the staging manual and can improve the diagnosis, treatment strategies and prognosis of ATC patients.


Assuntos
Carcinoma Anaplásico da Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Tireoidectomia/mortalidade , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Taxa de Sobrevida , Carcinoma Anaplásico da Tireoide/cirurgia , Neoplasias da Glândula Tireoide/cirurgia
10.
BMC Endocr Disord ; 21(1): 5, 2021 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-33413306

RESUMO

BACKGROUND: Multiple pathological manifestations are rarely present in patients with primary hyperparathyroidism (PHPT). Here we described a case of a young woman who presented with multiple skeletal destructions and received an unclear diagnosis at several hospitals. CASE PRESENTATION: A 30-year-old woman was admitted to our hospital due to pain in both knees and walking difficulty that lasted for 6 and 2 years, respectively. Her laboratory test results revealed a high parathyroid hormone level (822 pg/ml) and hypercalcemia (2.52 mmol/L) in the blood. Parathyroid imaging revealed a lumpy concentration of radioactive uptake detected at the lower pole in the right lobe of the thyroid, and was nearly 2.2 cm * 2.4 cm in size. Next, the patient was treated with parathyroidectomy that resulted in a significant improvement in physiological and clinical symptoms. Moreover, the skeletal destruction and bone mineral density were significantly improved after a 5-years follow-up period. CONCLUSIONS: Multiple skeletal destructions can be caused by PHPT that should be taken into consideration in young patients with complex bone lesions.


Assuntos
Densidade Óssea , Doenças Ósseas/patologia , Hiperparatireoidismo Primário/complicações , Adulto , Doenças Ósseas/etiologia , Doenças Ósseas/cirurgia , Feminino , Humanos , Hiperparatireoidismo Primário/cirurgia , Paratireoidectomia , Prognóstico
11.
J Int Med Res ; 48(10): 300060520964698, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33135515

RESUMO

OBJECTIVE: Primary hyperparathyroidism (PHPT) is relatively common in China and results in severe damage to the skeletal system. This study aimed to investigate changes in bone mineral density (BMD) over 2 years in patients with PHPT after parathyroidectomy. METHODS: This retrospective cohort study included patients with PHPT who underwent parathyroidectomy between January 2010 and December 2015. BMD and T-scores and Z-scores of the lumbar spine (L1, L2, L3, and L4) and total hip (femoral neck, great trochanter, and Ward's triangle) at baseline and 2 years after surgery were measured by dual-energy X-ray absorptiometry. RESULTS: Thirty patients with moderate to severe PHPT (17 men and 13 women) aged 38.90±15.48 years were included. BMD, and T-score and Z-score values at the lumbar spine and total hip at 6 months, 1 year, and 2 years after parathyroidectomy were significantly improved compared with preoperative values. Improvement in BMD was largest at L4 (46.7%) and smallest at L1 (37.4%) in the lumbar spine 2 years after parathyroidectomy. For the total hip, the increase in BMD was largest at Ward's triangle (42.6%) and smallest at the femoral neck (37.5%). CONCLUSIONS: BMD of the lumbar spine and total hip is improved after parathyroidectomy in patients with PHPT.


Assuntos
Densidade Óssea , Hiperparatireoidismo Primário , Adulto , China , Feminino , Humanos , Hiperparatireoidismo Primário/diagnóstico por imagem , Hiperparatireoidismo Primário/cirurgia , Masculino , Pessoa de Meia-Idade , Paratireoidectomia , Estudos Retrospectivos , Adulto Jovem
12.
Medicine (Baltimore) ; 99(40): e22507, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019451

RESUMO

RATIONALE: In this report, a combination of platelet-rich fibrin (PRF) membrane and semi-open flap technique was used to improve soft tissue regeneration in immediate implant placement in the molar region. PRF, an autologous fibrin matrix, has been widely used for soft tissue wound healing and regeneration. Semi-open flap technique is beneficial to eliminating exudates and relieving the swelling after surgery. PATIENT CONCERNS: Case 1 was a 45-year-old female with a residual crown in the posterior maxillary region that desired a dental implant operation. Case 2 was a 24-year-old male with retained deciduous tooth that requested a restoration of his congenital absent tooth. DIAGNOSES: In case 1, the tooth 16 was diagnosed with a residual crown, while in case 2, a deciduous tooth 75 was a retained deciduous tooth and 35 was congenital absent. INTERVENTIONS: In both cases, immediate implant placement was installed and PRF membranes were made to improve soft tissue augmentation with semi-open flap technique. In case 1, the mixture of an organic bovine bone and blood was filled in the gap between the implant and the socket wall. Subsequently, 2 PRF membranes covered the open wound with semi-open flap. Similarly, in case 2, another 2 PRF membranes were used to improve the soft tissue regeneration, with the same semi-open flap technique as mentioned above. OUTCOMES: In both cases, successfully soft tissue regeneration was obviously observed without postoperative infection. LESSONS: Utilizing the PRF membrane combined with semi-open flap technique can achieve excellent soft tissue augmentation around immediate implant placement in the molar regions.


Assuntos
Implantes Dentários , Regeneração Tecidual Guiada Periodontal/métodos , Dente Molar/cirurgia , Fibrina Rica em Plaquetas , Retalhos Cirúrgicos , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cicatrização
13.
BMC Endocr Disord ; 20(1): 141, 2020 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-32928178

RESUMO

BACKGROUND: Studies have shown that the response of bone mineral density (BMD) to parathyroidectomy for symptomatic primary hyperparathyroidism (PHPT) is heterogeneous and difficult to predict. However, the independent factors affecting BMD in PHPT patients after parathyroidectomy remains limited and inconclusive. This study aimed to explore the independent factors affecting BMD changes in symptomatic PHPT patients after parathyroidectomy. METHODS: This study retrospectively analyzed 105 patients with symptomatic PHPT treated at Beijing Jishuitan Hospital between January 2010 and December 2015. The primary outcome was a > 10% increase in BMD at 3 years after parathyroidectomy compared with the preoperative value, whereas the secondary outcomes were BMD changes at various measurement sites. RESULTS: A total of 105 patients with a mean age of 46.37 years were included in this study. Univariate logistic regression analysis indicated that hypertension (odds ratio [OR[: 0.032; 95% confidence interval [CI]: 0.001-0.475; P = 0.012), and parathyroid hormone level (OR: 1.006; 95% CI: 1.004-1.009; P = 0.044) were associated with the > 10% BMD increase. However, these results were not significant after adjustments for potential confounders. Moreover, the BMD values at the lumbar spine, femoral neck, femoral trochanter, Ward's triangle, and whole body after parathyroidectomy were significantly greater than those before the operation (P < 0.05). CONCLUSIONS: This study suggests that patient characteristics were not associated with the > 10% BMD increase. However, the BMD values of the femur and lumbar spine were significantly increased in symptomatic PHPT patients after parathyroidectomy.


Assuntos
Densidade Óssea/fisiologia , Hiperparatireoidismo Primário/diagnóstico , Hiperparatireoidismo Primário/cirurgia , Paratireoidectomia , Adulto , Idoso , Pequim/epidemiologia , Feminino , Humanos , Hiperparatireoidismo Primário/complicações , Hiperparatireoidismo Primário/epidemiologia , Masculino , Pessoa de Meia-Idade , Osteoporose/diagnóstico , Osteoporose/epidemiologia , Osteoporose/etiologia , Osteoporose/cirurgia , Paratireoidectomia/estatística & dados numéricos , Período Pós-Operatório , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento
14.
Nat Commun ; 11(1): 2111, 2020 04 30.
Artigo em Inglês | MEDLINE | ID: mdl-32355283

RESUMO

Preterm birth (PTB) is the leading cause of perinatal mortality and newborn complications. Bile acids are recognized as signaling molecules regulating a myriad of cellular and metabolic activities but have not been etiologically linked to PTB. In this study, a hospital-based cohort study with 36,755 pregnant women is conducted. We find that serum total bile acid levels directly correlate with the PTB rates regardless of the characteristics of the subjects and etiologies of liver disorders. Consistent with the findings from pregnant women, PTB is successfully reproduced in mice with liver injuries and dysregulated bile acids. More importantly, bile acids dose-dependently induce PTB with minimal hepatotoxicity. Furthermore, restoring bile acid homeostasis by farnesoid X receptor activation markedly reduces PTB and dramatically improves newborn survival rates. The findings thus establish an etiologic link between bile acids and PTB, and open an avenue for developing etiology-based therapies to prevent or delay PTB.


Assuntos
Ácidos e Sais Biliares/sangue , Nascimento Prematuro/epidemiologia , Adolescente , Adulto , Animais , Tetracloreto de Carbono , Ácido Cólico/metabolismo , Modelos Animais de Doenças , Feminino , Hospitais , Humanos , Recém-Nascido , Hepatopatias/epidemiologia , Masculino , Camundongos , Pessoa de Meia-Idade , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Gravidez , Resultado da Gravidez , Prenhez , Nascimento Prematuro/sangue , Estudos Prospectivos , Transdução de Sinais , Adulto Jovem
15.
EBioMedicine ; 26: 152-156, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29174520

RESUMO

BACKGROUND: Liver dysfunction is common in pregnancy but its association with adverse pregnancy outcomes such as preterm birth (PTB) remains unclear. METHODS: A prospective cohort of HBV-infected or uninfected pregnant women attending antenatal care was recruited at Nantong Maternal and Child Health Hospital between January 1, 2012, and June 30, 2016. Liver function tests (LFTs) were monitored through pregnancy. The primary outcomes were PTB and very PTB (delivery prior 37 and 32weeks' gestation respectively). Poisson regression was used to estimate adjusted risk ratios (RR) for women with HBV infection and LFT abnormalities. RESULTS: Among 36,755 pregnant women (1,113 HBV carriers and 35,642 non-HBV subjects), 3,519 (9.57%) had abnormal LFTs. The commonest cause for liver dysfunction during pregnancy was non-alcoholic fatty liver diseases (NAFLD, 51.3%). Abnormal aspartate aminotransferase (AST), gamma-glutamyltransferase (GGT) and two folds upper limit of normal total bilirubin (RR and 95%CI: 2.73, 1.30-5.76; 2.24, 1.35-3.31; 2.01, 1.22-3.31 respectively), rather than HBsAg positivity, were identified as independent risk factors for preterm birth. Besides, GGT abnormality was associated with increased risk of very PTB. CONCLUSIONS: We suggest that surveillance of LFTs among pregnant women should be warranted, given the increased risk of PTB.


Assuntos
Hepatopatias/epidemiologia , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Complicações na Gravidez/epidemiologia , Nascimento Prematuro/epidemiologia , Adulto , China/epidemiologia , Feminino , Humanos , Recém-Nascido , Hepatopatias/patologia , Testes de Função Hepática , Hepatopatia Gordurosa não Alcoólica/patologia , Gravidez , Complicações na Gravidez/patologia , Resultado da Gravidez , Nascimento Prematuro/patologia , Fatores de Risco
16.
BMC Musculoskelet Disord ; 18(1): 403, 2017 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-28934935

RESUMO

BACKGROUND: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by severe hypophosphatemia and osteomalacia. Nonspecific symptoms make the diagnosis elusive. In addition, locating the responsible tumor(s) is challenging. The aim of this study was to investigate the clinical management and outcomes of TIO. METHODS: The clinical features, diagnostic procedures, treatment, and outcomes of 12 patients were reviewed retrospectively. RESULTS: The cohort comprised six men and six women (mean age 45.5 ± 9.9 years, range 23-61 years). The mean duration of disease was 3.7 ± 2.6 years. All patients manifested progressive bone pain, muscle weakness, and/or difficulty walking. Serum phosphorus concentrations were low in all patients (mean 0.42 ± 0.12 mmol/L). Technetium-99m octreotide scintigraphy was performed in 11 patients and showed lesions in the right distal femur, left femoral head, and right tibial plateau, respectively, in three patients. Magnetic resonance imaging (MRI) was negative for lesions in one patient. Two patients underwent biopsies that showed negative histopathology. Two patients, at 2 years and 8 months, respectively, after having negative technetium-99m octreotide studies, underwent 18F-fluorodeoxyglucose positron emission tomography/computed tomography (CT), which revealed lesions in the sacrum and soft tissue of the left palm, respectively. One tumor was detected by CT and MRI. Overall, lesion sites were the head (two patients, 16.7%), thoracic and lumbar region (two, 16.7%), pelvis (three, 25%), lower limbs (four, 33.3%), and upper limbs (one, 8.3%). All patients underwent surgery, and histopathology showed phosphaturic mesenchymal tumors in each. Postoperatively, serum phosphorus concentrations normalized within 2-7 days in 11 patients. With follow-ups of 1-41 months, surgery was effective in 10 patients. One patient developed local recurrence and another had metastases. CONCLUSIONS: Locating tumors responsible for tumor-induced osteomalacia is often challenging. Although complete tumor resection confers a good prognosis in most patients, surveillance for recurrence and metastasis is necessary. Before surgery or when surgery is not indicated, oral phosphate can alleviate symptoms and metabolic imbalance.


Assuntos
Hipofosfatemia/diagnóstico por imagem , Neoplasias de Tecido Conjuntivo/diagnóstico por imagem , Síndromes Paraneoplásicas/diagnóstico por imagem , Neoplasias de Tecidos Moles/diagnóstico por imagem , Adulto , Estudos de Coortes , Feminino , Seguimentos , Humanos , Hipofosfatemia/sangue , Hipofosfatemia/cirurgia , Masculino , Pessoa de Meia-Idade , Neoplasias de Tecido Conjuntivo/sangue , Neoplasias de Tecido Conjuntivo/cirurgia , Osteomalacia/sangue , Osteomalacia/diagnóstico por imagem , Osteomalacia/cirurgia , Síndromes Paraneoplásicas/sangue , Síndromes Paraneoplásicas/cirurgia , Fosfatos/sangue , Estudos Retrospectivos , Neoplasias de Tecidos Moles/sangue , Neoplasias de Tecidos Moles/cirurgia , Resultado do Tratamento
17.
J Perinat Med ; 45(8): 933-940, 2017 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-27875320

RESUMO

OBJECTIVES: To assess the association of chronic hepatitis B virus (HBV) infection with preterm birth (PTB). METHODS: A cohort of 20,498 pregnant women (497 HBV carriers with 20,001 non-HBV controls) with normal alanine aminotransferase (ALT) levels was selected from the Obstetrics & Gynecology Hospital of Nantong University. The clinical parameters and PTB incidence were compared between HBV carriers and non-HBV subjects. For the meta-analysis, we searched the PubMed, Ovid and Cochrane Library databases for studies comparing PTB incidence between individuals with chronic HBV infection and non-HBV subjects. RESULTS: HBV carriers were slightly older and had slightly higher ALT levels within normal limits. The body mass index, education and history of pregnancy between HBV carrier and non-HBV groups were comparable. PTB incidence was not associated with HBV carrier status [relative risk (RR) 0.98, 95% confidence interval (CI) 0.71-1.37] in our cohort. However, the meta-analysis involving eight published studies and our study revealed a significant association between chronic HBV infection and PTB incidence (pooled RR 1.26, 95% CI 1.19-1.33). CONCLUSION: While maternal HBV carriers did not have a higher incidence of PTB in our cohort, the meta-analysis indicates that individuals with chronic HBV infection appeared to be at risk of PTB as a whole.


Assuntos
Hepatite B Crônica/epidemiologia , Nascimento Prematuro/epidemiologia , Adolescente , Adulto , Estudos de Casos e Controles , China/epidemiologia , Feminino , Hepatite B Crônica/complicações , Humanos , Incidência , Gravidez , Nascimento Prematuro/virologia , Estudos Prospectivos , Adulto Jovem
18.
PLoS One ; 11(3): e0151549, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26987060

RESUMO

BACKGROUND: Sugarcane mosaic virus (SCMV) is responsible for large-scale economic losses in the global production of sugarcane, maize, sorghum, and some other graminaceous species. To understand the evolutionary mechanism of SCMV populations, this virus was studied in Shanxi, China. A total of 86 maize leaf samples (41 samples in 2012 and 45 samples in 2013) were collected from 4 regions of Shanxi. RESULTS: Double-antibody sandwich (DAS)-ELISA and RT-PCR showed 59 samples (30 samples in 2012 and 29 samples in 2013) to be positive for SCMV, from which 10 new isolates of SCMV were isolated and sequenced. The complete genomes of these isolates are 9610 nt long, including the 5' and 3' non-coding regions, and encode a 3063-amino acid polyprotein. Phylogenetic analyses revealed that 24 SCMV isolates could be divided on the basis of the whole genome into 2 divergent evolutionary groups, which were associated with the host species. Among the populations, 15 potential recombination events were identified. The selection pressure on the genes of these SCMV isolates was also calculated. The results confirmed that all the genes were under negative selection. CONCLUSIONS: Negative selection and recombination appear to be important evolutionary factors shaping the genetic structure of these SCMV isolates. SCMV is distributed widely in China and exists as numerous strains with distinct genetic diversity. Our findings will provide a foundation for evaluating the epidemiological characteristics of SCMV in China and will be useful in designing long-term, sustainable management strategies for SCMV.


Assuntos
Variação Genética , Genoma Viral/genética , Vírus do Mosaico/genética , Saccharum/virologia , China , Ensaio de Imunoadsorção Enzimática/métodos , Evolução Molecular , Geografia , Interações Hospedeiro-Patógeno , Dados de Sequência Molecular , Vírus do Mosaico/classificação , Vírus do Mosaico/fisiologia , Filogenia , Folhas de Planta/virologia , Poliproteínas/genética , Poliproteínas/metabolismo , Recombinação Genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Seleção Genética , Análise de Sequência de DNA , Especificidade da Espécie , Zea mays/virologia
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