scholarly journals Sex-specific Difference in Phenotype of Kabuki Syndrome Type 2 Patients: A Matched Case-Control Study

Author(s):  
Yirou wang ◽  
Yufei Xu ◽  
Yao Chen ◽  
Yabin Hu ◽  
Qun Li ◽  
...  

Abstract Background: Kabuki syndrome (KS) is a monogenic disorder leading to special facial features, mental retardation, and multiple system malformations. KDM6A (MIM*300128) is the pathogenic gene of Kabuki syndrome type 2 (KS2, MIM#300867), which accounts for only 5%–8% of KS. Previous studies suggested that female patients with KS2 may have a milder phenotype. Thus, we summarized the phenotype and genotype of KS2 patients who were diagnosed in Shanghai Children’s Medical Center since July 2017 and conducted a 1:3 matched case-control study according to age and sex to investigate sex-specific differences between patients with and without KS2. Results There were 12 KS2 cases in this study, and 8 of them matched with 24 controls. The intelligence quotient (IQ) score of the case group was significantly lower than that of the control group (P <0.001). In addition, both the incidence of intellectual disability (ID) (IQ <70) and moderate-to-severe ID (IQ <55) were significantly higher in the case group than those in the control group (P <0.05). No sex-specific difference was found in the incidence of ID or moderate-to-severe ID between the female cases and female controls (P>0.05), whereas there was a significant difference between male cases and male controls (P <0.01). Furthermore, the rate of moderate-to-severe ID and congenital heart disease (CHD) was significantly higher in the male group than that in the female group (P <0.05).Conclusions Our results showed that a sex-specific difference was exhibited in the clinical phenotypes of KS2 patients. The incidence of CHD was higher in male patients, and mental retardation was significantly impaired. However, the female patients’ phenotype was mild.

2020 ◽  
Author(s):  
So Yeon Park ◽  
JIN SEO LEE ◽  
Jihyu Oh ◽  
Ji-Young Park

Abstract Background: Delayed antifungal therapy for candidemia leads to increased mortality. Discriminating bacterial infection from candidemia in systemic inflammatory response syndrome (SIRS) patients is very complex and difficult. Delta Neutrophil Index (DNI) is recently considered as a new factor which can distinguish infections from non-infections and reflect the severity of sepsis. We aimed to assess whether DNI can predict and provide a prognosis for candidemia in SIRS patients.Methods: A matched case-control study was conducted from July 2016 to June 2017 at Kangdong Sacred Heart Hospital. Among patients with comorbidity of SIRS, those with candidemia were classified as the case group, while those with negative blood culture results were classified as the control group. The matching conditions included age, blood culture date, and SIRS onset location. To evaluate DNI as a predictive and prognostic factor for candidemia, multivariate logistic regression was performed.Results: The 140 included patients were assigned to each group in a 1:1 ratio. DNI-D1 values measured on the blood culture date were higher in the case group ( p <0.001). In the multivariate analyses, DNI_D1 (Odds ration〔ORs〕2.138, 95% confidential interval 〔CI〕1.421-3.217, P <0.001) and Candida colonization were confirmed as predictive factors for candidemia. The cutoff value of DNI for predicting candidemia was 2.75%. The area under the curve for DNI value was 0.804 (95% CI, 0.719-0.890, p<0.001), with a sensitivity and specificity of 72.9% and 78.6%, respectively. Analysis of 14-day mortality was conducted for patients with candidemia. DNI_D1 and DNI_48, measured 2 days after the onset of candidemia, were both significantly high in the non-survivor group.Conclusion: DNI was identified to be a predictive factor for candidemia in patients wit SIRS and a prognostic factor that predicts 14-day mortality in candidemia patients. DNI, along with clinical characteristics of patients, were useful in determining the occurrence of candidemia in patients with SIRS.


2015 ◽  
Vol 2015 ◽  
pp. 1-11 ◽  
Author(s):  
Lorna Kwai-Ping Suen ◽  
Chao Hsing Yeh ◽  
Jojo Yee Mei Kwan ◽  
Paul Hong Lee ◽  
Grace Sau Ping Yeung ◽  
...  

The reflexive property of the ear can cause various physical attributes to appear on the auricle in the presence of bodily disorders. The association of auricular signals (presence or absence of discoloration, marks after pressing, tenderness, and electrical resistance) and diabetes mellitus (DM) should be further investigated because auricular diagnosis is an objective, painless, and noninvasive method that provides rapid access to information. A matched case-control study on 282 subjects was conducted. Cases (n=141) were defined as those diagnosed with type 2 DM (T2DM). Every subject in the case group was matched with the control by age and gender. Ear diagnosis was conducted in three aspects: inspection, electrical detection, and tenderness testing. Results suggest that the tenderness and electrical conductivity of some auricular points, including “pancreas and gallbladder,” “endocrine,” “kidney,” “lower tragus,” “heart,” and “eyes,” were associated with T2DM status in Chinese population. In the subgroup analyses, certain auricular signals were also associated with glycemic control, disease duration, and related complications. Auricular diagnosis could be considered as a screening method for vulnerable populations with T2DM risk. Thus, appropriate interventions can be implemented to prevent or delay the progression of T2DM.


Author(s):  
Zahra Heidari ◽  
Awat Feizi ◽  
Ammar Hassanzadeh Keshteli ◽  
Hamid Afshar ◽  
Hamidreza Roohafza ◽  
...  

2020 ◽  
Author(s):  
So Yeon Park ◽  
JIN SEO LEE ◽  
Jihyu Oh ◽  
Ji-Young Park

Abstract Background: Delayed antifungal therapy for candidemia leads to increased mortality. Differentiating bacterial infection from candidemia in systemic inflammatory response syndrome (SIRS) patients is complex and difficult. The Delta Neutrophil Index (DNI) has recently been considered a new factor to distinguish infections from non-infections and predict the severity of sepsis. We aimed to assess if the DNI can predict and provide a prognosis for candidemia in SIRS patients. Methods: A matched case-control study was conducted from July 2016 to June 2017 at Kangdong Sacred Heart Hospital. Among patients with a comorbidity of SIRS, those with candidemia were classified as the case group, whereas those with negative blood culture results were classified as the control group. The matching conditions included age, blood culture date, and SIRS onset location. Multivariate logistic regression was performed to evaluate DNI as a predictive and prognostic factor for candidemia.Results: The 140 included patients were assigned to each group in a 1:1 ratio. The DNI_D1 values measured on the blood culture date were higher in the case group than in the control group (p<0.001). The results of multivariate analyses confirmed DNI_D1 (odds ratio [ORs] 2.138, 95% confidential interval [CI] 1.421-3.217, p<0.001) and Candida colonization as predictive factors for candidemia. The cutoff value of DNI for predicting candidemia was 2.75%. The area under the curve for the DNI value was 0.804 (95% CI, 0.719-0.890, p<0.001), with a sensitivity and specificity of 72.9% and 78.6%, respectively. Analysis of 14-day mortality in patients with candidemia showed significantly higher DNI_D1 and DNI_48 in the non-survivor group than in the survivor group.Conclusions: DNI was identified as a predictive factor for candidemia in patients with SIRS and a prognostic factor in predicting 14-day mortality in candidemia patients. DNI, along with clinical patient characteristics, was useful in determining the occurrence of candidemia in patients with SIRS.


2005 ◽  
Vol 14 (6) ◽  
pp. 417-425 ◽  
Author(s):  
Bruce L. Lambert ◽  
Chia-Hung Chou ◽  
Ken-Yu Chang ◽  
Eskinder Tafesse ◽  
William Carson

2020 ◽  
Vol 2020 ◽  
pp. 1-11
Author(s):  
Aus Molan ◽  
Kazunori Nosaka ◽  
Michael Hunter ◽  
Jinxia Zhang ◽  
Xiaoni Meng ◽  
...  

An emerging field of research is starting to examine the association of infectious pathogens with type 2 diabetes mellitus (T2DM). An understudied parasite of interest is Toxoplasma gondii. Globally, very few studies have been conducted to investigate this association. Additionally, very little data exists on the prevalence of T. gondii in the general Australian population. Our group sought to determine the prevalence, association, and risk factors between T. gondii infection and T2DM from a representative Australian human population. Through a cross-sectional, age- and gender-matched case-control study, 150 subjects with T2DM together with 150 control subjects from the Busselton Health Study cohort were investigated. Sera samples were tested for the presence of anti-T. gondii IgG and IgM antibodies using enzyme-linked immunosorbent assays. Survey-derived data were also analyzed to evaluate associated risk factors. The IgG seroprevalence was found to be 62% and 66% for the T2DM and control groups, respectively (OR:0.84; p=0.471). IgM antibodies were detected in 5% of the T2DM patients and in 10% of the controls (OR=0.51; p=0.135). There were no significant differences between male and female IgG seroprevalence rates for both groups (OR:0.88, 0.80; p=0.723). The IgG seropositivity rate increased significantly in T2DM patients aged 45-84 years in comparison to those aged 18-44 years (p<0.05), but this was not observed in the control subjects. No risk factors were associated with T. gondii seropositivity in both groups. The first Australian study of its kind found T. gondii infection in Western Australia to be highly prevalent. The results also showed that there is no serological evidence of an association between T. gondii infection and T2DM in the studied subjects. Australian health authorities should focus on raising awareness of toxoplasma infection and target T. gondii transmission control. Further studies are needed to clarify the role of T. gondii in T2DM.


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