Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 15 de 15
Filtrar
Más filtros










Base de datos
Intervalo de año de publicación
1.
BMC Pediatr ; 24(1): 309, 2024 May 06.
Artículo en Inglés | MEDLINE | ID: mdl-38711130

RESUMEN

Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron. The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus, overlapping toes, and severe bilateral hydronephrosis accompanied by congenital heart disease, consistent with canonical SGS. This is the first report of a typical SGS caused by a, SETBP1 non-degron missense variant. This case expands the genetic spectrum of SGS and provides new insights into genotype-phenotype correlations.


Asunto(s)
Anomalías Múltiples , Proteínas Portadoras , Deformidades Congénitas de la Mano , Mutación Missense , Uñas Malformadas , Humanos , Femenino , Anomalías Múltiples/genética , Proteínas Portadoras/genética , Recién Nacido , Proteínas Nucleares/genética , Discapacidad Intelectual/genética , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/complicaciones , Pie Equinovaro/genética , Fenotipo , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/complicaciones , Degrones
2.
Transl Pediatr ; 13(4): 542-554, 2024 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-38715667

RESUMEN

Background: Spontaneous intestinal perforation (SIP) is one of the most serious surgical bowel conditions affecting preterm infants. There are limited data on the mortality and morbidities of very preterm infants [VPIs, <32 weeks' gestational age (GA)] with SIP in China. The study aimed to describe the prevalence, treatment, and outcomes of SIP among VPIs in China. Methods: This retrospective cohort study included all infants born at 24+0-31+6 weeks GA from January 1, 2019, to December 31, 2020, and admitted within seven days after birth to the neonatal intensive care units in the Chinese Neonatal Network. The primary outcome was survival without major morbidities. The association between SIP and neonatal outcomes was evaluated using multivariate logistic regression controlling for possible confounders. Results: Out of the 15,814 enrolled infants, 150 (1.0%) developed SIP with a median onset age of four (IQR 2-6) days. Infants with GA 24+0-25+6 weeks had the highest incidence of SIP (13/532, 2.4%), followed by those with GA 26+0-27+6 weeks (22/2,005, 1.1%), 28+0-29+6 weeks (44/5,269, 0.8%) and 30+0-31+6 weeks (71/8,008, 0.9%). Ten SIP cases were lost to follow-up with unknown survival status and 41 (29.3%) of the remaining 140 infants with SIP died during hospitalization. Only 29.3% of infants with SIP survived without major morbidities, significantly lower than those without SIP (59.2%; P<0.01). Multivariate analysis revealed SIP was associated with a higher risk of overall death (adjusted OR 3.36; 95% CI: 1.85 to 6.08), late-onset sepsis (adjusted OR 2.10; 95% CI: 1.02 to 4.31), and bronchopulmonary dysplasia (adjusted OR 2.49; 95% CI: 1.44 to 4.30). Among all infants with SIP, 28 (18.7%) did not receive any surgical intervention. Laparotomy was provided to 113 (92.6%) of the remaining 122 infants, solely (84/122, 68.9%) or following peritoneal drainage (29/122, 23.8%), while nine (7.4%) infants underwent peritoneal drainage only. Conclusions: Around 1% of VPIs in China developed SIP, associated with increased risk of mortality and morbidities. Over 90% of VPIs with SIP underwent laparotomy as initial or subsequent surgical treatment. Effective and evidence-based strategies are needed for the prevention and management of SIP.

3.
Molecules ; 28(10)2023 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-37241730

RESUMEN

Crude herbs of Daphne genkwa (CHDG) are often used in traditional Chinese medicine to treat scabies baldness, carbuncles, and chilblain owing to their significant purgation and curative effects. The most common technique for processing DG involves the use of vinegar to reduce the toxicity of CHDG and enhance its clinical efficacy. Vinegar-processed DG (VPDG) is used as an internal medicine to treat chest and abdominal water accumulation, phlegm accumulation, asthma, and constipation, among other diseases. In this study, the changes in the chemical composition of CHDG after vinegar processing and the inner components of the changed curative effects were elucidated using optimized ultrahigh-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry (UPLC-Q-TOF-MS). Untargeted metabolomics, based on multivariate statistical analyses, was also used to profile differences between CHDG and VPDG. Eight marker compounds were identified using orthogonal partial least-squares discrimination analysis, which indicated significant differences between CHDG and VPDG. The concentrations of apigenin-7-O-ß-d-methylglucuronate and hydroxygenkwanin were considerably higher in VPDG than those in CHDG, whereas the amounts of caffeic acid, quercetin, tiliroside, naringenin, genkwanines O, and orthobenzoate 2 were significantly lower. The obtained results can indicate the transformation mechanisms of certain changed compounds. To the best of our knowledge, this study is the first to employ mass spectrometry to detect the marker components of CHDG and VPDG.


Asunto(s)
Daphne , Daphne/química , Ácido Acético/química , Cromatografía Líquida de Alta Presión/métodos , Quimiometría , Espectrometría de Masas/métodos , Cromatografía Liquida
4.
Front Microbiol ; 14: 1078426, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36876108

RESUMEN

Risks associated with preterm birth are unevenly distributed across all gestations. At earlier gestational ages, complications such as necrotizing enterocolitis (NEC) and late-onset sepsis (LOS) conditions are significantly more common and are associated with a shift in the composition of the gut microbiome. Conventional bacterial culture techniques demonstrate that the colonization of the gut microbiota of preterm infants differs significantly from that of healthy-term infants. The current study aimed to investigate the impact of preterm infancy on the dynamic changes of fecal microbiota in preterm infants at different time points (1, 7, 14, 21, 28, and 42 days) after birth. We selected 12 preterm infants hospitalized in the Sixth Affiliated Hospital of Sun Yat-sen University from January 2017 to December 2017. A total of 130 fecal specimens from preterm infants were analyzed using 16S rRNA gene sequencing. We found that the colonization process of fecal microbiota in preterm infants is highly dynamic at different time points after birth, i.e., Exiguobacterium, Acinetobacter, and Citrobacter showed a declining abundance pattern with the advancement of age, while the bacterial groups of Enterococcus (Klebsiella and Escherichia coli) gradually grew and became the main microbiota during the development of fecal microbiota in preterm infants at the age of 42 days. Furthermore, the colonization of intestinal Bifidobacteria in preterm infants was relatively late and did not rapidly become the predominant microbiota. Moreover, the results also showed the presence of Chryseobacterium bacterial group, whose colonization was different in different time point groups. Conclusively, our findings deepen our comprehension and offer new perspectives on targeting particular bacteria in the treatment of preterm infants at different time points after birth.

5.
J Infect Dis ; 227(11): 1313-1321, 2023 05 29.
Artículo en Inglés | MEDLINE | ID: mdl-36520652

RESUMEN

BACKGROUND: Whether pediatric rotavirus infection is associated with extraintestinal complications remains unknown. METHODS: We conducted a case-control study to investigate the incidences and risks of rotavirus-associated extraintestinal complications in hospitalized newborns, infants, and children younger than 5 years. RESULTS: A total of 1325 young inpatients with rotavirus infection (754 male and 539 newborns) and 1840 controls without rotavirus infection (1035 male and 836 newborns) were included. The incidences of neurological disease were higher among rotavirus individuals compared with controls: newborns, 7.24% (39/539) versus 2.87% (24/836), P < .001; infants and young children, 19.59% (154/786) versus 12.35% (124/1004), P < .001. The associated odd ratios (ORs) for neurological disease frequency following rotavirus infection was 2.64 (95% confidence interval [CI], 1.57-4.44) for newborns and 1.73 (95% CI, 1.34-2.24) for infants and young children, which increased to 2.56 (95% CI, 1.57-4.18) in case-control (1:1) matching analysis and 1.85 (95% CI, 1.41-2.42) in confounder adjustment. Rotavirus infection was associated with other extraintestinal complications, depending on study population and disease severity. Outcome analysis revealed rotavirus infection and its consequences had a significant impact on hospitalization and discharge. CONCLUSIONS: Rotavirus exposure was associated with a spectrum of extraintestinal complications, particularly neurological disease. Rotavirus infection and subsequent consequences resulted in poor clinical outcomes.


Asunto(s)
Enfermedades del Sistema Nervioso , Infecciones por Rotavirus , Rotavirus , Preescolar , Humanos , Lactante , Recién Nacido , Masculino , Estudios de Casos y Controles , Hospitalización , Enfermedades del Sistema Nervioso/epidemiología , Enfermedades del Sistema Nervioso/etiología , Infecciones por Rotavirus/complicaciones , Infecciones por Rotavirus/epidemiología , Femenino
6.
J Ethnopharmacol ; 290: 115103, 2022 May 23.
Artículo en Inglés | MEDLINE | ID: mdl-35157955

RESUMEN

ETHNOPHARMACOLOGICAL RELEVANCE: Based on ancient records and previous studies, many parts of Rhus chinensis Mill., including the fruits, have good preventive and therapeutic effects on inflammation, malaria, diarrhea, and gastrointestinal diseases. Rhus plants and Galla chinensis produced from R. chinensis leaves can also prevent or cure intestinal diseases. However, the preventive effect and molecular mechanisms of R. chinensis fruits on necrotizing enterocolitis (NEC) have not been comprehensively studied. AIM OF THE STUDY: This article aims to estimate the effect of the 80% ethanol extract of R. chinensis fruits (RM) on alleviating NEC in rat pups and illustrate the potential molecular mechanisms. MATERIALS AND METHODS: Rat pups were subjected to formula feeding, intermittent hypoxic, and cold stresses to establish the NEC model. The preventive effects of RM on NEC were evaluated through survival rate; clinical sickness index; macroscopic conditions; histopathology; and expression levels of inflammatory markers (i.e., tumor necrosis factor-α [TNF-α], interleukin-6 [IL-6]), oxidative stress indicators (i.e., total antioxidant status [TAS], total oxidant status [TOS], superoxide dismutase [SOD], glutathione peroxidase [GSH-Px], myeloperoxidase [MPO], malondialdehyde [MDA]), and tight junction proteins (i.e., Zonula Occludens 1 [ZO-1], Occludin). Moreover, the expression levels of several key proteins involved in oxidative stress (i.e., nuclear factor erythroid 2-related factor 2 [Nrf2], NAD(P)H-quinone oxidoreductase-1 [NQO1]), inflammation (i.e., Toll-like receptor 4 [TLR4], phosphorylated-nuclear factor kappa-B [p-NF-κB], inducible nitric oxide synthase [iNOS]), and apoptosis (i.e., cleaved cysteinyl aspartate specific proteinase-3 [cleaved Caspase-3], Bcl-2-associated X [Bax], B-cell lymphoma-2 [Bcl-2]) in intestinal tissues were analyzed to clarify the molecular mechanisms. RESULTS: The extract particularly high doses (400 mg RM/kg body weight) could remarkably reduce the mortality and clinical sickness score and improve the macroscopic condition and histopathological injury of the intestine in NEC pups. After RM administration, the levels of TOS, TNF-α, IL-6, MPO, and MDA in the bowel tissue decreased, whereas the levels of TAS, SOD, and GSH-Px were significantly enhanced. The expression levels of ZO-1 and Occludin proteins were dramatically augmented in RM-treated groups to maintain intestinal barrier integrity. Further analyses revealed that RM might prevent NEC pups by improving some pivotal proteins involved in oxidative stress, inflammation, and apoptosis of enterocytes, namely, by down-regulating the levels of TLR4, p-NF-κB, iNOS, cleaved Caspase-3, and Bax and up-regulating the levels of Bcl-2, NQO1, and Nrf2. CONCLUSIONS: The RM prevented the intestinal inflammation and damage caused by NEC by regulating the expression of several pivotal proteins involved in oxidative stress, inflammation, and apoptosis. This study might provide a scientific basis for R. chinensis fruits as a traditional herbal medicine to prevent and/or alleviate NEC.


Asunto(s)
Enterocolitis Necrotizante/patología , Extractos Vegetales/farmacología , Rhus , Animales , Animales Recién Nacidos , Modelos Animales de Enfermedad , Relación Dosis-Respuesta a Droga , Frutas , Mediadores de Inflamación/metabolismo , Interleucina-6/metabolismo , Estrés Oxidativo/efectos de los fármacos , Gravedad del Paciente , Ratas , Ratas Sprague-Dawley , Proteínas de Uniones Estrechas/efectos de los fármacos , Factor de Necrosis Tumoral alfa/efectos de los fármacos
7.
Food Funct ; 12(20): 9965-9978, 2021 Oct 19.
Artículo en Inglés | MEDLINE | ID: mdl-34494061

RESUMEN

The purpose of this research was to explore the preventive effect of an 80% ethanol extract of Rhus chinensis Mill. fruits on dextran sulfate sodium (DSS)-induced colitis in mice and to elucidate the underlying molecular mechanisms of this effect. The results indicated that the extract, especially when administered at a high dose, could dramatically decrease the disease activity index, maintain normal spleen conditions, and improve colonic histopathology and length in the DSS-induced mice. In addition, extract administration could significantly suppress the levels of malondialdehyde, myeloperoxidase, tumor necrosis factor-α, interleukin-1ß, and interleukin-6 and enhance superoxide dismutase and glutathione levels. The extract obviously protected intestinal barrier integrity by improving Occludin, ZO-1 and Claudin-1 expression levels. Western blot and immunohistochemistry analyses further indicated that the preventive effect of the phenol-rich extract on DSS-induced colitis might be achieved through the up-regulation of the expression of several pivotal oxidative stress-associated proteins, namely Nrf2, NQO1 and HO-1, and the down-regulation of the expression of several pivotal inflammation-associated proteins, namely p-NF-κB, p-IκB, COX-2, iNOS, p-P38, p-Erk1/2, and p-JNK. Therefore, R. chinensis fruits extract possesses the capability to prevent DSS-induced ulcerative colitis in mice and could be utilized as a natural substance in the exploitation of functional foods as an adjuvant dietary therapy for preventing and/or alleviating inflammatory bowel disease.


Asunto(s)
Colitis Ulcerosa/prevención & control , Extractos Vegetales/farmacología , Rhus/química , Animales , Colitis Ulcerosa/metabolismo , Colon/metabolismo , Colon/patología , Citocinas/metabolismo , Sulfato de Dextran/efectos adversos , Femenino , Frutas/química , Intestinos/metabolismo , Ratones , Ratones Endogámicos C57BL , Factor 2 Relacionado con NF-E2/metabolismo , FN-kappa B/metabolismo , Estrés Oxidativo/efectos de los fármacos , Bazo/metabolismo
8.
BMJ Open ; 10(7): e038004, 2020 07 22.
Artículo en Inglés | MEDLINE | ID: mdl-32699166

RESUMEN

INTRODUCTION: An outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) occurred in Wuhan, China starting in December 2019. Yet the clinical features and long-term outcomes of neonates with SARS-CoV-2 exposure are lacking. The purpose of this study is to describe the clinical course and prognosis of the neonates exposed to SARS-CoV-2. METHODS AND ANALYSIS: This is a multicentre observational study conducted at the designated children and maternal and child hospitals in the mainland of China. Neonates exposed to SARS-CoV-2 infection will be recruited. The data to be collected via case report forms include demographic details, clinical features, laboratory and imaging results, as well as outcomes. Primary outcomes are the mortality of neonates with COVID-19 and SARS-CoV-2 infection of neonates born to mothers with COVID-19. Secondary outcomes are the birth weight, premature delivery and neurological development of neonates exposed to SARS-CoV-2. The neurological development is assessed by the Chinese standardised Denver Developmental Screening Test at the corrected age of 6 months. ETHICS AND DISSEMINATION: This study has been approved by the Children's Hospital of Fudan University ethics committee (No. (2020)31). The study findings will be disseminated in peer-reviewed journals and presented at national and international conferences in order to improve the understanding of the clinical course among neonates exposed to SARS-CoV-2 and to provide evidence-based treatment and prevention strategies for this group. TRIAL REGISTRATION NUMBER: NCT04279899.


Asunto(s)
Desarrollo Infantil , Infecciones por Coronavirus/epidemiología , Trastornos del Neurodesarrollo/epidemiología , Neumonía Viral/epidemiología , Complicaciones Infecciosas del Embarazo/epidemiología , Nacimiento Prematuro/epidemiología , Betacoronavirus , COVID-19 , China/epidemiología , Infecciones por Coronavirus/mortalidad , Infecciones por Coronavirus/fisiopatología , Femenino , Maternidades , Hospitales Pediátricos , Humanos , Lactante , Recién Nacido , Pandemias , Neumonía Viral/mortalidad , Neumonía Viral/fisiopatología , Embarazo , Estudios Prospectivos , SARS-CoV-2 , Índice de Severidad de la Enfermedad
9.
Cancer Manag Res ; 11: 4059-4064, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31190981

RESUMEN

Background: Rectal polyps is a major risk factor for rectal cancer. There is a need to explore a panel of preventive measures, as well as reliable biomarkers for screening of rectal polyps. Patients and methods: We conducted a case control study which aimed to explore the effects of regular consumption of ginsenoside Rg3, profiling of selected cytokines, and development of rectal polyps in a Chinese population. Results: Significantly higher levels of IL-4, MIP-1ß, FasL, TGF-ß1, and RANTES were detected in rectal polyp cases. Further, we found significant dose-response relationships between quartile-categorized levels of IL-4, MIP-1ß, FasL, and TGF-ß1, and risk of rectal polyps. The strongest associations for IL-4, MIP-1ß, FasL, and TGF-ß1 were observed for the highest quartile vs the lowest quartile with an OR of 1.78, 2.70, 1.49, and 2.36, respectively. Compared with non-Rg3 consumers, regular Rg3 consumers had a significantly lower risk of rectal polyps (OR =0.71; 95% CI: 0.55-0.92; P=0.009). We also found that Rg3 consumers had significantly lower levels of IL-4, MIP-1ß, FasL, and TGF-ß1 than non-Rg3 consumers, in both rectal polyp cases and healthy controls. Conclusion: These results indicate that regular consumption of Rg3 might prevent the occurrence of rectal polyps through decreasing the serum level of selected cytokines, including IL-4, MIP-1ß, FasL, and TGF-ß1. Further clinical trials and prospective cohort studies with larger sample sizes are warranted to validate the anti-inflammatory activity and the anti-tumorigenic role of Rg3.

10.
Zhongguo Dang Dai Er Ke Za Zhi ; 19(6): 652-657, 2017 Jun.
Artículo en Chino | MEDLINE | ID: mdl-28606231

RESUMEN

OBJECTIVE: To explore the differences of NKX2.5 and TBX5 gene mutations between in vitro fertilization (IVF) children with congenital heart disease (CHD) and naturally conceived children with CHD. METHODS: Blood samples from 68 IVF children with CHD and 98 naturally conceived children with CHD were collected. The mutations in coding regions 1 and 2 of the NKX2.5 gene, and coding regions 4, 5, and 8 of the TBX5 gene were examined by polymerase chain reaction (PCR) and DNA sequencing. RESULTS: An A-to-G mutation at nucleotide 63 (c.63A>G) in coding region 1 of the NKX2.5 gene was found in both IVF and naturally conceived children with CHD. There were no significant differences in genotype and allele frequencies at c.63A>G locus of the NKX2.5 gene between the two groups. No mutations were detected in coding region 2 of the NKX2.5 gene and coding regions 4, 5 and 8 of the TBX5 gene. CONCLUSIONS: There is no difference in NKX2.5 and TBX5 gene mutations between IVF and naturally conceived children with CHD. Therefore, it is presumed that assisted reproductive technology may not lead to mutations in the NKX2.5 and TBX5 genes.


Asunto(s)
Fertilización In Vitro , Cardiopatías Congénitas/genética , Proteína Homeótica Nkx-2.5/genética , Mutación , Proteínas de Dominio T Box/genética , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino
11.
Zhongguo Dang Dai Er Ke Za Zhi ; 18(11): 1080-1083, 2016 Nov.
Artículo en Chino | MEDLINE | ID: mdl-27817769

RESUMEN

OBJECTIVE: To study the value of combined measurement of intestinal fatty acid-binding protein (I-FABP) and fecal calprotectin (FC) in the diagnosis of necrotizing enterocolitis (NEC) in full-term neonates. METHODS: A total of 36 full-term neonates with NEC (case group) and 39 neonates without digestive system diseases (control group) were enrolled as study subjects. ELISA was used to measure the serum I-FABP level and fecal FC level, and the clinical value of I-FABP combined with FC in the diagnosis of NEC was evaluated. RESULTS: The case group had significantly higher I-FABP and FC levels than the control group (P<0.05). In the case group, serum I-FABP level was positively correlated with fecal FC level (r=0.71, P<0.05). In the diagnosis of NEC, I-FABP alone, FC alone, and I-FABP/FC combination had sensitivities of 83.3%, 81.5%, and 79.5%, specificities of 72.5%, 75.8%, and 86.3%, and areas under the ROC curve (AUCs) of 0.82, 0.81, and 0.88. The combined measurement showed significantly higher specificity and AUC than single measurement (P<0.05). CONCLUSIONS: Children with NEC have significant increases in I-FABP and FC levels, and there is a correlation between them. Combined measurement of I-FABP and FC can increase the specificity of the diagnosis of NEC.


Asunto(s)
Enterocolitis Necrotizante/diagnóstico , Proteínas de Unión a Ácidos Grasos/sangre , Heces/química , Complejo de Antígeno L1 de Leucocito/análisis , Femenino , Humanos , Recién Nacido , Masculino
12.
Zhongguo Dang Dai Er Ke Za Zhi ; 18(11): 1084-1089, 2016 Nov.
Artículo en Chino | MEDLINE | ID: mdl-27817770

RESUMEN

OBJECTIVE: To investigate the effect of advanced maternal age on birth defects and postnatal complications of neonates. METHODS: Among the 1 109 neonates who were born at The First People's Hospital of Yunnan Province between January 2014 and December 2015, 536 neonates whose mothers were aged ≥35 years were enrolled as advanced age group and 573 neonates whose mothers were aged <35 years were enrolled as appropriate-age group. The incidences of the comorbidities in pregnancy, fetal intrauterine distress, neonatal birth defects, and postnatal complications were compared between the two groups. A univariate logistic regression analysis was performed to analyze the effect of advanced maternal age on neonatal comorbidities during perinatal period. RESULTS: Compared with the appropriate-age group, the advanced age group had significantly higher rate of caesarean section and incidence rates of multiple birth, gestational diabetes, pregnancy-induced hypertension, in vitro fertilization, and fetal intrauterine distress (P<0.01). The neonates in the advanced age group had a significantly higher incidence rate of cleft lip and palate and a significantly lower rate of skeletal dysplasia than in the appropriate-age group (P<0.05). Advanced maternal age was the risk factor for fetal intrauterine distress (OR=2.27, 95%CI: 1.33-3.88, P=0.003), neonatal resuscitation (OR=1.66, 95%CI: 1.19-2.31, P=0.003), and intracranial hemorrhage (OR=2.70, 95%CI: 1.21-6.04, P=0.02). CONCLUSIONS: The women of maternal advanced age have higher incidence rates of pregnancy comorbidities than those of appropriate age, and the neonates born to the mothers of advanced maternal age have a higher incidence rate of cleft lip and palate. Advanced maternal age may increase the risks of fetal intrauterine distress, neonatal resuscitation, and intracranial hemorrhage.


Asunto(s)
Anomalías Congénitas/etiología , Enfermedades del Recién Nacido/etiología , Edad Materna , Adulto , Hemorragia Cerebral/etiología , Cesárea , Femenino , Humanos , Recién Nacido , Modelos Logísticos , Persona de Mediana Edad , Embarazo , Complicaciones del Embarazo/etiología
13.
Zhongguo Dang Dai Er Ke Za Zhi ; 17(4): 350-5, 2015 Apr.
Artículo en Chino | MEDLINE | ID: mdl-25919554

RESUMEN

OBJECTIVE: To investigate the survival quality of infants conceived by in vitro fertilization (IVF) and to identify the factors that cause birth defects and neonatal complications in IVF infants. METHODS: The study included 150 IVF infants (IVF group) and 200 naturally conceived infants (control group). Indicators such as birth situation, gestational disease, birth defects, and neonatal complications were compared between groups. The influencing factors for birth defects and neonatal complications were analyzed by non-conditional logistic regression analysis. RESULTS: Compared with the control group, the IVF group had increased incidences of twin pregnancy and low birth weight (P<0.01) but decreased average birth weight (P<0.05). In the IVF group, the mother's age was elder, with higher incidence of cesarean section, premature rupture of membranes, and pregnancy complications, as compared with the control group (P<0.05). There was no significant difference in the incidence of birth defects between the two groups (P>0.05). The IVF group had higher incidence rates of low birth weight and neonatal scleroderma (P<0.05), with a longer hospital stay (P<0.01), as compared with the control group. The non-conditional logistic regression analysis indicated that IVF, prematurity, twin pregnancy, and pregnancy complications were risk factors for low birth weight (P<0.05). CONCLUSIONS: There is no significant difference in the incidence of birth defects between IVF and naturally conceived infants. However, IVF infants have higher incidences of twin pregnancy and low birth weight, with a longer hospital stay, as compared with naturally conceived infants. Natural conceiving, avoiding prematurity, twin pregnancy, and pregnancy complications will reduce the incidence of low birth weight.


Asunto(s)
Anomalías Congénitas/epidemiología , Fertilización In Vitro/efectos adversos , Recién Nacido de Bajo Peso , Femenino , Humanos , Recién Nacido , Modelos Logísticos , Masculino , Embarazo , Complicaciones del Embarazo/epidemiología , Embarazo Gemelar/estadística & datos numéricos
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 32(2): 153-7, 2015 Apr.
Artículo en Chino | MEDLINE | ID: mdl-25863075

RESUMEN

OBJECTIVE: To investigate the mutations of phenylalanine hydroxylase (PAH) gene in 20 phenylketonuria (PKU) patients from Yunnan. METHODS: The 13 exons and the splicing regions of 12 introns of the PAH gene were sequenced to detect mutations in 20 unrelated PKU patients. RESULTS: PAH gene sequencing has revealed 15 types of mutations, in which the most frequently mutation was p.R243Q (30.0%), followed by p.Y356X(10.0%), p.R111X (7.5%), IVS4+2T>A (7.5%) and p.V399V (7.5%). Exons 7, 11, 3 and introns 4, 11 were most frequently involved. Six novel mutations, including c.59A>C, c.60G>C, c.690_691insG, c.1119_1120insT, c.441+2T>A, c.842+4A>T and c.1200+1T>G were detected. CONCLUSION: PAH gene mutations identified in Yunnan are more similar to those of northern China, with R243R being the most common, though there are still certain characteristics for the type and frequency of mutations.


Asunto(s)
Pueblo Asiatico/genética , Mutación , Fenilalanina Hidroxilasa/genética , Fenilcetonurias/enzimología , Adolescente , Adulto , Secuencia de Bases , Niño , China , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Fenilcetonurias/genética , Adulto Joven
15.
Zhongguo Wei Zhong Bing Ji Jiu Yi Xue ; 22(5): 263-6, 2010 May.
Artículo en Chino | MEDLINE | ID: mdl-20519072

RESUMEN

OBJECTIVE: To explore the effects of calcitonin gene-related peptide (CGRP) on type II alveolar epithelial cell (AECII) exposed to hyperoxia, and to determine whether the mechanism is mediated by protein kinase C alpha/nuclear factor-KappaB (PKC alpha/NF-KappaB) signal pathway. METHODS: AECII were isolated from the lung of 21 days fetal rat and cultured for 15 hours to coalesce. Then AECII were randomly assigned into four groups: air, hyperoxia, O(2)/CGRP, and O(2)/CGRP8-37 (a receptor antagonist against CGRP). AECII were exposed to FiO(2) 21% (air) or 85% (hyperoxia) for 24 hours respectively. In O(2)/CGRP and O(2)/CGRP8-37 groups CGRP or both CGRP and CGRP8-37 were added into cultural fluid before placing the plate into 85% oxygen. Cell proliferation ability was determined by methyl thiazolyl tetrazolium (MTT) assay and cell cycles by flow cytometry. Western blotting was employed to detect the fraction of PKC alpha in membrane and cytosol, and translocation of NF-KappaB was observed under laser confocal microscopy. RESULTS: AECII in hyperoxia group showed a decreased viability of AECII [(68.752+/-5.766)% vs. (100.000+/-6.682)%] and had an enhanced percentage of G0/G1 phase [(80.652+/-6.253)% vs. (45.825+/-2.899)%] with a corresponding decline in percentage of S phase [(14.198+/-4.785)% vs. (27.470+/-2.775)%] and G2/M phases [(5.148+/-1.688)% vs. (26.708+/-1.863)%] compared with AECII in air (all P<0.01). Addition with CGRP before hyperoxia exposure promoted AECII proliferation [(94.813+/-6.102)%] and enhanced the cell proportions in S and G2/M phases [(30.547+/-9.861)% and (17.668+/-9.509)%, all P<0.01]. The ratio of membrane to cytoplasm fraction of PKC alpha declined (0.63+/-0.10 vs. 1.00+/-0.09) and the fluorescence of NF-KappaB in nucleus enhanced (22.98+/-2.20 vs. 14.54+/-2.35) in hyperoxia compared with that in air, while both the ratio of PKC alpha and intensity of NF-KappaB were increased in O(2)/CGRP group (1.41+/-0.23, 35.38+/-3.37) compared with those in hyperoxia (0.63+/-0.10, 22.98+/-2.20) and O(2)/CGRP8-37 groups (0.74+/-0.10, 24.88+/-1.81, all P<0.01). CONCLUSION: CGRP could promote proliferation of AECII when exposed to high oxygen tension. PKC alpha participates in the signal transduction process and NF-KappaB is a downstream molecular of PKC alpha, executing in part the function of PKC alpha signal.


Asunto(s)
Células Epiteliales Alveolares/fisiología , Péptido Relacionado con Gen de Calcitonina/farmacología , Oxígeno/farmacología , Proteína Quinasa C-alfa/metabolismo , Células Epiteliales Alveolares/efectos de los fármacos , Células Epiteliales Alveolares/metabolismo , Animales , Proliferación Celular/efectos de los fármacos , Células Cultivadas , FN-kappa B/metabolismo , Ratas , Ratas Sprague-Dawley , Transducción de Señal/efectos de los fármacos
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...