Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant multisystem disorder that is caused by mutations of transforming growth factor-β receptors. Mutations in SMAD3 and TGFB3 have been recently reported.LDS is characterised by the triad of arterial tortuosity, hypertelorism and a bifid uvula or cleft palate among other cardiovascular, craniofacial and orthopaedic manifestations. Patients with LDS show clinical and genetic variability and there is a significant risk of reduced life expectancy due to widespread arterial involvement, aortic root dilation, aneurysms and an aggressive vascular course. Thus early genetic testing is warranted if clinical signs and history are suggestive of this potentially catastrophic disorder.LDS predisposes patients to aortic aneurysms and early death due to vascular malformations, but neurological emergencies, such as seizures and febrile status epilepticus, have not been reported.Febrile status epilepticus is the most common neurological emergency in childhood. Neurological manifestations of COVID-19 in the paediatric population are not as well described in medical literature.To the best of our knowledge, this is the first reported case of febrile status epilepticus with COVID-19 infection in an infant with LDS. Our patient had focal epileptiform activity emanating over the left posterior hemisphere, which evolved into an electrographic seizure on video EEG. Such patients have a heightened risk of epilepsy in the future, and this occurrence is consistent with a diagnosis of focal epilepsy. Neurological complications such as epilepsy and status epilepticus in a patient with LDS have never been reported before.A brief review of literature is also given here.

Loeys-Dietz Syndrome (LDS) is a rare connective tissue disorder with an autosomal dominant pattern of inheritance, linked to heterozygous mutations in six genes from the transforming growth factor beta receptor complex. The classical syndrome characteristics include aortic aneurisms with generalized arterial tortuosity, hypertelorism and cleft palate or bifid/broad uvula. LDS is also associated with a wide range of skeletal, craniofacial, cutaneous and ocular abnormalities, as well as allergic, atopic and inflammatory diseases. Common oral findings include high arched and/or narrow palate, enamel defects and class II skeletal malocclusion. Dental management of patients with LDS is complex and includes approaches to prevent medical complications, as well as considerations for safe delivery of dental care. The purpose of this report, reviews the literature related to LDS oral manifestations as well as to describe the comprehensive dental management of an adolescent patient with LDS and discuss the challenges that dental practitioners may face when providing treatment for these patients. LDS is a newly described syndrome and the literature reviewing its oral manifestations is limited. Patients are reported to have lower oral health-related quality of life as a result of tooth sensitivity and malocclusions. Dental management is compounded by the complexity of medical factors that should be taken into consideration for the safe delivery of care. The presented case is an example of the challenges that dental practitioners may face when providing treatment for LDS patients.

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OBJECTIVE: To investigate the association between transforming growth factor beta 1 related gene polymorphisms and the occurrence of pregnancy induced hypertension, including gestational hypertension and preeclampsia.
METHODS: This is a case control candidate gene association study. A total of 130 patients with preeclampsia, 67 with gestational hypertension, and 316 controls were recruited. Eleven candidate SNPs of were examined, including four TGFβ1 SNPs (rs1800469, rs4803455, rs4803457, and rs8179181), one TGFβR1 SNP (rs10739778), four TGFβR2 SNPs (rs1346907, rs3087465, rs6550005, and rs877572), and two ENG SNPs (rs10121110 and rs11792480).
METHODS: Logistic regression was used to estimate the OR and the 95% CI under different genetic models. Chi-square test was used to determine whether haplotype frequency distributions differed between the case and control groups and logistic regression was used to estimate ORs. To explore the associations between SNPs and blood pressure, SBP/DBP in different genotype groups in healthy women were compared by Wilcoxon rank sum test.
RESULTS: We did not find significant association between investigated SNPs and pregnancy induced hypertension. The C-T-A-G haplotype of four TGFβR2 SNPs (rs877572, rs1346907, rs3087465, and rs6550005) was significantly associated with preeclampsia (OR = 4.71, 95%CI: 1.944, 11.409) and gestational hypertension (OR = 3.157, 95%CI: 1.003, 9.938). The AA genotype of TGFβR1 rs10739778 was found to be associated with higher blood pressure in healthy women (p ≤ .008).
CONCLUSIONS: Polymorphisms in TGFβR2 might participate in the pathologic process of pregnancy induced hypertension, and TGFβR1 rs10739778 was associated with blood pressure in our healthy participants.

This case-control study investigated the association of transforming growth factor-β (TGF-β) receptor type I and II (TGFBR1 and TGFBR2) gene polymorphisms with the risk of hypospadias in a Chinese population. One hundred and sixty two patients suffering from hypospadias were enrolled as case group and 165 children who underwent circumcision were recruited as control group. Single nucleotide polymorphisms (SNPs) in TGFBR1 and TGFBR2 genes were selected on the basis of genetic data obtained from HapMap. PCR-restriction fragment length polymorphism (PCR-RFLP) was performed to identify TGFBR1 and TGFBR2 gene polymorphisms and analyze genotype distribution and allele frequency. Logistic regression analysis was conducted to estimate the risk factors for hypospadias. No significant difference was found concerning the genotype and allele frequencies of TGFBR1 rs4743325 polymorphism between the case and control groups. However, genotype and allele frequencies of TGFBR2 rs6785358 in the case group were significantly different in contrast with those in the control group. Patients carrying the G allele of TGFBR2 rs6785358 polymorphism exhibited a higher risk of hypospadias compared with the patients carrying the A allele (P<0.05). The TGFBR2 rs6785358 genotype was found to be significantly related to abnormal pregnancy and preterm birth (both P<0.05). The frequency of TGFBR2 rs6785358 GG genotype exhibited significant differences amongst patients suffering from four different pathological types of hypospadias. Logistic regression analysis revealed that preterm birth, abnormal pregnancy, and TGFBR2 rs6785358 were the independent risk factors for hypospadias. Our study provides evidence that TGFBR2 rs6785358 polymorphism might be associated with the risk of hypospadias.

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Embryo implantation involves a complex sequence of events, and a large amount of molecules have been postulated to be involved in the interaction of embryo and endometrium. This study evaluated the endometrial expression of α-inhibin and β-glycan in the mid-secretory phase of women scheduled to in vitro fertilization (IVF) and tested whether these markers are associated with implantation failure. We performed a nested case-control study including 52 women submitted to IVF and embryo transfer, divided into 2 groups: cases with implantation failure (n = 33) and controls with confirmed clinical pregnancy (n = 19). Endometrial α-inhibin and β-glycan gene expression was evaluated in the mid-secretory phase of the natural menstrual cycle immediately before IVF, using real-time polymerase chain reaction. We found a higher gene expression of α-inhibin (fold increase = 2.14 ± 0.32, P < .05) and β-glycan (fold increase = 1.44 ± 0.16, P < .05) in implantation failure patients compared to confirmed clinical pregnancy patients. The areas under the receiver operating characteristics curves for prediction of implantation failure in this context were 0.692 and 0.678 for α-inhibin and β-glycan, respectively. The present results suggest that high expression levels of α-inhibin and β-glycan transcripts in secretory phase endometrium are associated with a lower chance of achieving pregnancy with IVF.

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Accumulating evidences have suggested the potential association between Int7G24A (rs334354) polymorphism and cancer risk. However, results from epidemiological studies are controversial. We thus conducted this meta-analysis to clarify the association. Relevant studies were identified on electronic databases according to the inclusion criteria. A total of 13 case-control studies containing 4092 cases and 5909 controls were included in our meta-analysis. Odds ratios (ORs) with 95% confidence intervals (CIs) were applied to assess the association. The results of the overall population had suggested that Int7G24A polymorphism had an increased risk for cancer, reaching significant levels in the 2 genetic models (allele model, OR = 1.25, 95% CI 1.09-1.42, P = 0.001; dominant model, OR = 1.24, 95% CI 1.06-1.46, P < 0.008). Besides, significant association was found among Asian population (allele model, OR = 1.27, 95% CI 1.11-1.45, P < 0.001; dominant model, OR = 1.28, 95% CI 1.11-1.49, P < 0.001), whereas there was non-significant relationship detected among Caucasian population (allele model, OR = 1.08, 95% CI 0.92-1.26, P = 0.352; dominant model, OR = 1.05, 95% CI 0.87-1.26, P = 0.639). The present meta-analysis had suggested that Int7G24A polymorphism of gene TGFBR1 involved in the transforming growth factor beta (TGF-β) signaling pathway had a significantly increased risk for cancer development.

BACKGROUND: Transforming growth factor-β (TGF-β) plays an important role in regulating cellular functions, and many studies have demonstrated important roles for TGF-β in various cancers. Single nucleotide polymorphisms (SNPs) of TGF-β may influence lung carcinogenesis. The aim of this study was to test whether TGF-β1 C509T and TGF-β receptor II (TGFBR2) G-875A polymorphisms were associated with lung adenocarcinoma in nonsmoking females.
METHODS: A hospital-based case-control study was performed in Chinese nonsmoking females. Genotyping was performed using TaqMan SNP genotyping assay, and demographic data and environmental exposure were collected by trained interviewers after informed consents were obtained.
RESULTS: A total of 272 (95.4%) cases and 313 (99.4%) controls were successfully genotyped, and the results showed that the polymorphic allele frequencies of C509T and G875A were similar among lung adenocarcinoma patients and controls (P=0.589 and 0.643, respectively). However, when the data were stratified for cooking oil fume exposure, the TT genotype of the TGFB1 C509T polymorphism showed a significantly decreased risk for lung adenocarcinoma compared with the CC genotype (adjusted OR=0.362, 95% CI=0.149-0.878, P=0.025).
CONCLUSIONS: TGF-β1 gene C509T polymorphism might be associated with decreased risk of lung adenocarcinoma in Chinese females exposed to cooking oil fumes, but no association was observed TGFBR2 gene G875A polymorphism.