ABSTRACT
Abstract A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene.
Subject(s)
Humans , Female , Child, Preschool , Hand Deformities, Congenital , Marfan Syndrome , Facies , Cryptorchidism , Diagnostic Errors , Smad4 Protein , Growth Disorders , Intellectual DisabilityABSTRACT
@#Objective To explore the effect of preoperative hypothyroidism on postoperative cognition dysfunction (POCD) in elderly patients after on-pump cardiac surgery. Methods Patients who were no younger than 50 years and scheduled to have on-pump cardiac surgeries were selected in West China Hospital from March 2016 to December 2017. Based on hormone levels, patients were divided into two groups: a hypo group (hypothyroidism group, thyroid stimulating hormone (TSH) >4.2 mU/L or free triiodothyronine 3 (FT3) <3.60 pmol/L or FT4 <12.0 pmol/L) and an eu group (euthyroidism group, normal TSH, FT3 and FT4). The mini-mental state examination (MMSE) test and a battery of neuropsychological tests were used by a fixed researcher to assess cognitive function on 1 day before operation and 7 days after operation. Primer outcome was the incidence of POCD. Secondary outcomes were the incidence of cognitive degradation, scores or time cost in every aspect of cognitive function. Results No matter cognitive function was assessed by MMSE or a battery of neuropsychological tests, the incidence of POCD in the hypo group was higher than that of the eu group. The statistical significance existed when using MMSE (55.56% vs. 26.67%, P=0.014) but was absent when using a battery of neuropsychological tests (55.56% vs. 44.44%, P=0.361). The incidence of cognitive deterioration in the hypo group was higher than that in the eu group in verbal fluency test (48.15% vs. 20.00%, P=0.012). The cognitive deterioration incidence between the hypo group and the eu group was not statistically different in the other aspects of cognitive function. There was no statistical difference about scores or time cost between the hypo group and the eu group in all the aspects of cognitive function before surgery. After surgery, the scores between the hypo group and the eu group was statistically different in verbal fluency test (26.26±6.55 vs. 30.23±8.00, P=0.023) while was not statistically significant in other aspects of cognitive function. Conclusion The incidence of POCD is high in the elderly patients complicated with hypothyroidism after on-pump cardiac surgery and words reserve, fluency, and classification of cognitive function are significantly impacted by hypothyroidism over than other domains, which indicates hypothyroidism may have close relationship with POCD in this kind of patients.
ABSTRACT
The purpose of this study was to pool information in epithelial ovarian cancer by combining studies using Affymetrix expression microarray datasets made at different laboratories to identify novel biomarkers.Epithelial microarray expression information across laboratories was screened and combinedafter preprocessing raw microarray data,then ANOVA and unpaired T test statistical analysis was performed for identifying differentially expressed genes(DEGs),followed by clustering and pathway analysis for these DEGs.In this work,we performed a combination analysis on microarrays from three different laboratories using gene expression data on ovarian cancer and obtained a list of differential expression profiles identified as potential candidate in aggressiveness of ovarian cancer.The clustering and pathway analysis explored the different molecular basis of different ovarian cancer stages and potential important regulatory pathways in ovarian cancer development.Our results showed that combination of microarray data from different laboratories in the same platforms may overcome biases derived from probe design and technical features,thereby accelerating the identification of trustworthy DEGs,and demonstrating the advantage of integrative analysis in gene expression studies on epithelial ovarian cancer research.