scholarly journals Clinical Value of Positive BET and Pelvic Floor Dyssynergia in Chinese Patients with Functional Defecation Disorder

Author(s):  
Ya Jiang ◽  
Yan Wang ◽  
Yurong Tang ◽  
Lin Lin

Abstract Background Functional defecation disorder (FDD) is a common subtype of functional constipation (FC). Balloon expulsion test (BET) and high resolution anorectal manometry (HR-ARM) are significant tools but their results are not always consistent. Aims To investigate the characteristics of patients with positive BET and pelvic floor dyssynergia (PFD) and explore the value of both positive results in FDD diagnosis. Methods We retrospectively diagnose FC subtypes and enrolled FDD patients based on Rome-IV criteria. They underwent HR-ARM, BET and CTT tests. Then they were classified to 2 groups and further stratified by FDD subtypes. Validated questionnaires were applied to investigate patients’ constipation, anxiety/depression and quality of life. Results 335 FDD patients were finally enrolled. They were classified into 2 groups according to whether BET and PFD were both positive (consistent or not). 84.48% showed consistent results. These patients had significantly higher anal residual pressure, lower anal relaxation rate, MDI and a more negative RAPG (Ps < 0.05). The specific distribution of FDD phenotypes in two groups showed significant difference (P = 0.021). Males suffered a more negative RAPG (P < 0.001) and age was correlated with anal relaxation rate (P < 0.001). 177 individuals among them were investigated with validated questionnaires. Scores for Defecation Symptoms, Physical Discomfort and GAD-7 score were significantly high in Consistent Group (Ps < 0.05). GAD-7 score was associated with Defecation Symptoms (P < 0.001) while anal residual pressure, GAD-7 and Defecation Symptoms score were linked to Physical Discomfort (Ps < 0.05). The diagnostic specificity and PPV for FDD rose significantly with positive BET and PFD. Conclusion FDD patients with positive BET and PFD suffer severe defecation symptoms, anxiety and impaired QOL. Positive BET and PFD could be an ideal tool for screening FDD.

2019 ◽  
Author(s):  
Hui Zhang ◽  
Kailun Liu ◽  
Zhimin Wang ◽  
Fanjuan Kong ◽  
Rongqing Gao ◽  
...  

Abstract Objective To investigate the correlation between pelvic floor dyssynergia-type constipation and the puborectalis muscle using three-dimensional ultrasonography. Methods Eighty-seven patients with pelvic floor dyssynergia-type constipation (observation group) and 87 healthy volunteers (control group) were enrolled in this study. Three-dimensional ultrasonography of the pelvic floor was performed on patients and healthy volunteers in a lithotomy position at rest and during straining and squeezing. The three-dimensional reconstructed sonogram was analysed to determine the puborectalis angle and puborectalis thickness at the 6 o’clock position (patients in a lithotomy position). Results (1) The puborectalis angles of the observation and control groups were not significantly different at rest [(85.664 ± 1.926)°, (85.813 ± 1.500)°] and during squeezing [(87.478 ± 2.125)°, (86.960 ± 1.751)°] (P > 0.05) but were significantly different when straining [(80.389 ± 2.268)°, (94.382 ± 1.540)°] (P < 0.05). The difference in the puborectalis angles of the two groups between rest and straining [(5.275 ± 1.236)°, (-8.569 ± 1.209)°] was statistically significant (P < 0.05). (2) The puborectalis thickness of the observation and control groups was not significantly different at rest ([3.994 ± 0.128) mm, (3.983 ± 0.091) mm] and during anal squeezing [(4.082 ± 0.154) mm, (4.126 ± 0.113) mm] (P > 0.05) but was significantly different when straining [(4.630 ± 0.199) mm, (4.296 ± 0.121) mm] (P < 0.05). The differences in the puborectalis thickness at rest and during straining in the observation and control groups were (-0.636 ± 0.217) mm and (-0.316 ± 0.089) mm, respectively, resulting in a statistically significant difference between the two groups (P < 0.05). Conclusion The puborectalis angle in patients with pelvic floor dyssynergia-type constipation was smaller than that in healthy volunteers during straining. The puborectalis thickness at the 6 o’clock position with the patient in a lithotomy position in patients with pelvic floor dyssynergia-type constipation was larger than that in healthy volunteers. Moreover, larger differences between rest and straining are associated with a more severe degree of constipation. Project funding Natural Science Foundation of Shandong (ZR2012HM086)


Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 336
Author(s):  
Guo-Min Yang ◽  
Rou-Min Wang ◽  
Nan Xia ◽  
Zi-Wei Zheng ◽  
Yi Dong ◽  
...  

Wilson’s disease (WD) is an autosomal recessive disorder caused by ATP7B pathogenic variants. This study aimed to show the geographical distribution and haplotype spectrum of three prevalent pathogenic variants (p.R778L, p.P992L, p.T935M) in mainland Chinese population and clarify whether the founder effect may account for their origins. We firstly summarized the frequency and geographical distribution of p.R778L, p.P992L and p.T935M in 715 WD patients. Then, to construct haplotypes associated with the three variants, Sanger sequencing and microsatellite typing at three dinucleotide-repeat markers (D13S314, D13S301, D13S316) flanking the ATP7B gene were performed in 102 WD families. An obvious regional-specific distribution feature was found in p.T935M. Linkage disequilibrium at the three markers was shown in all the three variants and we found the common haplotypes specific for p.R778L, p.P992L and p.T935M respectively, represented successively by 10-7-7, 10-9-5 and 12-4-8, which all exhibited great significance vs. the control chromosomes (p < 0.01). Meanwhile, haplotypes for the three variants differed from the studies in other regions to some extent. The common haplotypes we found indicate that three prevalent pathogenic variants emerge due to the founder effect. Furthermore, the study contributes to expand our knowledge of the genetic diversity of WD from a cross-regional perspective.


2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Weiyang Cheng ◽  
Sufang Xue ◽  
Fang Wu ◽  
Xiaowei Song ◽  
Qiang Huang ◽  
...  

Background and Purpose. Recently, several studies indicated the c.14576G>A variant on the ring finger protein 213 (RNF213), a founder variant of moyamoya diseases (MMD), was associated with non-MMD intracranial major artery stenosis/occlusion (non-MMD ICASO). We proposed that RNF213 variant-related ICASO including MMD might be a special entity with its own characteristics based on a genetic background. The aim of the study was to learn the clinical and vascular features of RNF213 variant-related ICASO. Moreover, we tried to explore the clinical significance of a testing variant in ICASO patients in China. Methods. Clinical material and routine image data were collected in 160 Chinese patients with ICASO, including 41 verified MMD and 119 non-MMD. DNA samples were extracted, and the c.14576G>A variant on RNF213 was genotyped. Then, the clinical and vascular features were compared between the patients with and without a relevant variant. Furthermore, the patients with RNF213 mutation were performed with high resolution magnetic resonance imaging (HR-MRI) examination to conclude features of the artery wall. Results. There were 16 (10%) patients (including 9 MMD and 7 non-MMD ICASO) presenting a heterozygous c.14576G>A variant while none of homozygote was found. Compared to the patients without the c.14576G>A variant, the variant group had more female, less symptomatic patients, and more possibility of having collateral vessels in vascular imaging. In the symptomatic subgroup, there is no significant difference in clinical presentation (p>0.05) between two groups. However, RNF213 variant-related ICASO had lower scores in NIHSS (1.0±3.0 vs. 3.9±5.0, p<0.05) but not in mRS. In the symptomatic subgroup, in addition, most of the HR-MRI images of variant ICASO (77.8%, 7 of 9) were characterized by a shrunken outer diameter, concentric thickening vessel wall, and collateral vessel structures on the stenotic portion, which was prone to be diagnosed as HR-MMD (a MMD diagnosis diagnosed by HR-MRI). The rest of the two variants showed a relatively eccentric luminal narrow, normal outer diameter without collateral vessel findings, identified as HR-ICAD (intracranial atherosclerotic disease diagnosed by HR-MRI). Conclusions. Our study demonstrated that the c.14576G>A variant on RNF213 may be a biomarker to good outcome of ICASO in Chinese. The variant-related ICASO was characterized by both features of MMD and ICAD diagnosed by HR-MRI.


2009 ◽  
Vol 16 (4) ◽  
pp. 233-236 ◽  
Author(s):  
MSM Mark ◽  
TTS Au ◽  
YF Choi ◽  
TW Wong

Objectives To determine whether the minimum clinically significant difference (MCSD) in visual analogue scale (VAS) pain score varies with age, gender, education level and cause of pain (trauma versus non-trauma) in Chinese patients. Methods This was a prospective descriptive study of local Chinese patients 15 years of age or older who presented with pain to the accident & emergency department. On presentation, patients were asked to indicate their current pain severity with a single mark through a standard 100–mm visual analogue scale. Then they would be offered an analgesic for pain-relief. After 30–45 minutes, the patients were asked to give a verbal categorical rating of their pain as ‘a lot better’, ‘a little better’, ‘much the same’, ‘a little worse’, or ‘much worse’ and to mark the level of pain on a VAS of the same type as used previously. The MCSD in VAS pain score was defined as the mean difference between the current and preceding scores when the subject reported ‘a little worse’ or ‘a little better’ in pain. Data were compared based on gender, age, education level, and traumatic versus non-traumatic causes of pain. Results 186 patients were enrolled in the study, yielding 77 evaluable comparisons where pain was rated as ‘a little better’ or ‘a little worse’. Overall, the MCSD in VAS pain score in the group was 17 mm (95%CI 13.6 mm to 20.6 mm). There were statistically significant differences between the MCSD in VAS pain score between genders and causes of pain (trauma versus non-trauma). Conclusions The MCSD in VAS pain scores was found to be 17 mm. There was significant differences in MCSD in VAS pain score in different genders and between trauma and non-trauma cases.


2015 ◽  
Vol 19 (6) ◽  
pp. 333-338 ◽  
Author(s):  
F. Cadeddu ◽  
F. Salis ◽  
E. De Luca ◽  
I. Ciangola ◽  
G. Milito

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Lijuan Zhang ◽  
YuYe Shi ◽  
Yue Chen ◽  
Shandong Tao ◽  
Wenting Shi ◽  
...  

Abstract Background Clonal hematopoiesis (CH) can be found in various myeloid neoplasms (MN), such as myelodysplastic syndromes (MDS), myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN), also in pre-MDS conditions. Methods Cytogenetics is an independent prognostic factor in MDS, and fluorescence in-situ hybridization (FISH) can be used as an adjunct to karyotype analysis. In the past 5 years, only 35 of 100 newly diagnosed MDS and MDS/MPN patients were identified abnormalities, who underwent the FISH panel. In addition, we examined a cohort of 51 cytopenic patients suspected MDS or MDS/MPN with a 20-gene next generation sequencing (NGS), including 35 newly diagnosed MN patients and 16 clonal cytopenias of undetermined significance (CCUS) patients. Results Compared with the CCUS group, the MN group had higher male ratio (22/13 vs 10/6), cytogenetics abnormalities rate (41.4% vs 21.4%) and frequency of a series of mutations, such as ASXL1 (28.6% vs 25%), U2AF1 (25.7% vs 25%), RUNX1 (20% vs 0.0%); also, higher adverse mutations proportion (75% vs 85.2%), and double or multiple mutations (54.3% vs 43.75%). There were 7 MN patients and 4 CCUS patients who experienced cardio-cerebrovascular embolism events demonstrated a significant difference between the two groups (25% vs 20%). Ten of the 11 patients had somatic mutations, half had DNA methylation, while the other half had RNA splicing. Additionally, six patients had disease transformation, and four patients had mutated U2AF1, including two CCUS cases and two MDS-EB cases. Following up to January 2021, there was no significant difference in over survival between the CCUS and MN groups. Conclusion NGS facilitates the diagnosis of unexplained cytopenias. The monitoring and management of CCUS is necessary, also cardio-cerebrovascular embolism events in patients with CH need attention in the clinical practice.


2019 ◽  
Vol 8 (2) ◽  
pp. 125-132
Author(s):  
Fahime Khorasani ◽  
Fariba Ghaderi ◽  
Parvin Sarbakhsh ◽  
Parisa Ahadi ◽  
Elahe Khorasani ◽  
...  

Objectives: The present systematic review focused on the prevention or treatment of three main types of pelvic floor dysfunctions (PFDs) specifically pelvic organ prolapse (POP), urinary incontinence (UI), and fecal incontinence (FI) using physiotherapy and pelvic floor muscle exercises (PFMEs). With regard to the breadth of the problem, there is not much evidence grounded on the best management. The main purpose of this systematic review was to evaluate the effects of physiotherapy and PFMEs on the prevention and treatment of pregnancy-related PFDs; namely, POP, FI, and UI. Therefore, this review incorporated studies comparing the use of physiotherapy and PFMEs with every other existing interventions. Methods: This systematic review and meta-analysis was conducted on randomized-controlled-trial (RCT) articles and quasi-RCT designs through a search in the studies published with no time limits until December 2017 in the databases of PubMed (Medline), Web of Science, Scopus, Embase, Cochrane Library, and ProQuest. The meta-analysis was also applied for data synthesis. Moreover, heterogeneity was assessed using Cochran’s Q test and I2 index. Results: A total number of 26 RCTs were examined in this review in which the outcome variables were related to POP, UI, and FI prevalence; POP, UI, and FI severity, as well as pelvic floor muscle (PFM) strength and endurance. In most articles, UI prevalence or severity in intervention groups had significantly improved compared with those in controls. The number of studies examining POP and FI was also relatively low. In two studies, FI severity or prevalence in intervention groups had significantly enhanced in comparison with those in control groups; however, FI prevalence in two articles had been reported lower in intervention groups than that in control groups although no significant difference had been observed. There was also no significant improvement in intervention groups in two other studies in this respect. Besides, three articles had not reported traces of improvement in POP, as well as a significant difference between intervention and control groups. Nevertheless, two studies had found a significant improvement in POP in this regard. Based on meta-analysis results for the variable of PFM strength, Cochran’s Q test (P<0.001) and I2 index (90.02) indicated heterogeneity between studies; so, a random-effect meta-analysis was applied to estimate overall effect sizes. The overall mean differences following intervention between the study groups were also equal to 6.94, with a 95% CI (1.36 to 12.52). Conclusions: It was concluded that physiotherapy and PFMEs might have effects on pregnancy-related UI, but they had not consistently reduced FI severity or prevalence and failed to constantly improve POP.


Jurnal NERS ◽  
2019 ◽  
Vol 14 (1) ◽  
pp. 87
Author(s):  
Hamdan Hariawan ◽  
Oedojo Soedirham ◽  
Abu Bakar

Background: Inpatients who are attached in intravenous devices tend to experience physical discomfort. This condition can lead to the decrease in performing Salat as a Muslim prayer. The purpose of this study was to determine the effect of individual coaching on knowledge, attitude, and practice of Salat among Muslim inpatient. This study used quasi-experimental design.Mehods: The samples were 36 Muslim inpatients. The data were collected by self-constructed questionnaire and analyzed by using Independent t-test and Mann Whitney test with α ≤ 0.05.Results: Before giving intervention, the means of pretest score in both groups were 14.33+2.17 and 14.39+2.28 for knowledge, 26.17+2.31 and 26.50+3.17 for attitude, and 10.00+2.91 and 10.50+3.45 for practice. There was no significant difference scores of knowledge (p=0.941), attitude (p=0.924), and practice (p=0.635) between two groups before giving intervention. However, after giving intervention, these scores have changed to 19.00+1.72 and 14.89+2.29 for knowledge, 26.97+2.25 and 26.61+2.81 for attitude, 15.33+3.80 and 10.50+3.45 for practice and there was higher significance scores of knowledge (p=0.000), attitude (p=0.003), and practice (p=0.000) after giving intervention.Conclusions: Coaching is the suitable method to increase Muslim inpatients knowledge, attitude, and ability to practice Salat. This study recommends the nurse to do coaching as a nursing intervention in helping patient to perform Salat


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