A novel missense mutation in obscurin gene in a Chinese consanguineous family with left ventricular noncompaction.

BACKGROUND: Left ventricular noncompaction (LVNC) is an increasingly recognised cardiomyopathy of which a significant percentage are genetic in origin. The purpose of the present study was to identify potential pathogenic mutation leading to disease in a Chinese LVNC family. METHODS: A 3-generation family affected by LVNC was recruited. Clinical assessments were performed on available family members, with clinical examination, ECG, echocardiography and cardiac MRI. The proband (I-2), the proband's daughter (II-1, affected) and mother (III-1, unaffected) were selected for WGS. Sanger sequencing were performed in all of the 4 surviving family members. RESULTS: Combined whole genome sequencing with linkage analysis identified a novel missense mutation in the giant protein obscurin (OBSCN NM_001098623, c.C19063T), as the only plausible disease-causing variant that segregates with disease among the four surviving individuals, with interrogation of the entire genome excluding other potential causes. This c.C19063T missense mutation resulted in p.R6355W in the encoded OBSCN protein. It affected a highly conserved residue in the C terminus of the obscurin-B-like isoform between the PH and STKc domains, which was predicted to affect the function of the protein by different bioinformatics tools. CONCLUSIONS: Here we present clinical and genetic evidence implicating the novel R6355W missense mutation in obscurin as the cause of familial LVNC. This expands the spectrum of obscurin's roles in cardiomyopathies. It furthermore highlights that rare obscurin missense variants, currently often ignored or left uninterpreted, should be considered to be relevant for cardiomyopathies and can be identified by the approach presented here. This study also provided new insights into the molecular basis of OBSCN mutation positive LVNC.

Association Between Health Literacy and Enhanced Recovery After Surgery Protocol Adherence and Postoperative Outcomes Among Patients Undergoing Colorectal Cancer Surgery: A Prospective Cohort Study.

BACKGROUND: Low health literacy (HL) adversely affects medical adherence and health outcomes in patients with chronic diseases. However, the association between HL and enhanced recovery after surgery (ERAS) adherence and postoperative outcomes has not been investigated in patients undergoing colorectal surgery. METHODS: The data of all patients from a single academic institution who underwent colorectal surgery on an ERAS pathway from January 2019 to July 2020 were prospectively collected. HL levels were assessed using the Brief Health Literacy Screen (BHLS), a proven tool that was used by surgeons after recruitment. According to the HL score, the participants were categorized into low HL (≤9 points) and high HL (10-15 points) groups. The primary outcome was ERAS adherence. Adherence was measured in 22 perioperative elements, and high adherence was defined as adherence to 17 to 22 elements. Secondary outcomes included postoperative complications, hospital length of stay (LOS), hospital charges, mortality, and readmissions. RESULTS: Of the 865 eligible patients, the high HL group consisted of 329 patients (38.0%), and the low HL group contained 536 patients (62.0%). After propensity score matching (1:1), 240 unique pairs of patients with similar characteristics were selected. Patients with high HL levels had a significantly higher rate of high adherence to ERAS standards than those with low HL levels (55% vs 25.8%; adjusted P < .001). In terms of adherence to each item, high HL levels were significantly associated with higher adherence to preoperative optimization (90.8% vs 71.7%; adjusted P < .001), postoperative gum chewing (59.2% vs 44.6%; adjusted P = .01), early feeding (59.2% vs 31.3%; adjusted P < .001), and early mobilization (56.7% vs 30.4%; adjusted P < .001). In the overall study population, adjusted logistic regression analyses also showed that high HL levels were associated with a significantly increased rate of high adherence when compared with low HL levels (adjusted odds ratio [OR], 3.57; 95% confidence interval (CI), 2.50-5.09; P < .001). In addition, low HL levels were associated with a significantly higher incidence of postoperative complications (32.1% vs 20.8%; P < .01), longer hospital LOS (9 [interquartile range {IQR}, 7-11] vs 7 [IQR, 6-9] d; P < .001), and higher hospital charges (10,489 [IQR, 8995-11942] vs 8466 [IQR, 7733-9384] dollar; P < .001) among propensity-matched patients. However, there were no differences in the mortality and readmission rates between the HL groups. CONCLUSIONS: Low HL levels were associated with lower adherence to ERAS elements among propensity-matched patients undergoing colorectal surgery.

Implementation of the pre-operative rehabilitation recovery protocol and its effect on the quality of recovery after colorectal surgeries.

BACKGROUND: Patients' recovery after surgery is the major concern for all perioperative clinicians. This study aims to minimize the side effects of peri-operative surgical stress and accelerate patients' recovery of gastrointestinal (GI) function and quality of life after colorectal surgeries, an enhanced recovery protocol based on pre-operative rehabilitation was implemented and its effect was explored. METHODS: A prospective randomized controlled clinical trial was conducted, patients were recruited from January 2018 to September 2019 in this study. Patients scheduled for elective colorectal surgeries were randomly allocated to receive either standardized enhanced recovery after surgery (S-ERAS) group or enhanced recovery after surgery based on pre-operative rehabilitation (group PR-ERAS). In the group PR-ERAS, on top of recommended peri-operative strategies for enhanced recovery, formatted rehabilitation exercises pre-operatively were carried out. The primary outcome was the quality of GI recovery measured with I-FEED scoring. Secondary outcomes were quality of life scores and strength of handgrip; the incidence of adverse events till 30 days post-operatively was also analyzed. RESULTS: A total of 240 patients were scrutinized and 213 eligible patients were enrolled, who were randomly allocated to the group S-ERAS (n = 104) and group PR-ERAS (n = 109). The percentage of normal recovery graded by I-FEED scoring was higher in group PR-ERAS (79.0% vs. 64.3%, P < 0.050). The subscores of life ability and physical well-being at post-operative 72 h were significantly improved in the group PR-ERAS using quality of recovery score (QOR-40) questionnaire (P < 0.050). The strength of hand grip post-operatively was also improved in the group PR-ERAS (P < 0.050). The incidence of bowel-related and other adverse events was similar in both groups till 30 days post-operatively (P > 0.050). CONCLUSIONS: Peri-operative rehabilitation exercise might be another benevolent factor for early recovery of GI function and life of quality after colorectal surgery. Newer, more surgery-specific rehabilitation recovery protocol merits further exploration for these patients. TRIAL REGISTRATION: ChiCTR.org.cn, ChiCTR-ONRC-14005096.

Perioperative breathing training to prevent postoperative pulmonary complications in patients undergoing laparoscopic colorectal surgery: A randomized controlled trial.

OBJECTIVE: The aim of this study was to determine whether perioperative breathing training reduces the incidence of postoperative pulmonary complications in patients undergoing laparoscopic colorectal surgery. DESIGN: A randomized controlled trial. SETTING: University hospital. SUBJECTS: A total of 240 patients undergoing laparoscopic colorectal surgery participated in this study. INTERVENTION: The enrolled patients were randomized into an intervention or control group. Patients in the intervention group received perioperative breathing training, including deep breathing and coughing exercise, balloon-blowing exercise, and pursed lip breathing exercise. The control group received standard perioperative care without any breathing training. MAIN MEASURES: The primary endpoint was the incidence of postoperative pulmonary complications. The secondary objectives were to evaluate the effect of perioperative breathing training on arterial oxygenation, incidence of other postoperative complications, patient satisfaction, length of stay, and hospital charges. RESULTS: The incidence of postoperative pulmonary complications in the breathing training group was lower than that in the control group (5/120 [4%] vs 14/120 [12%]; RR 0.357, 95%CI 0.133-0.960; P = 0.031). In addition, PaO2 and arterial oxygenation index on the first and fourth days after surgery were significantly higher in the breathing training group than in the control group (P < 0.001). In addition, patients with breathing training had shorter length of stay (6d [IQR 5-7] vs 8d [IQR 7-9]), lower hospital charges (7761 ± 1679 vs 8212 ± 1326), and higher patient satisfaction (9.46 ± 0.65 vs 9.21 ± 0.47) than those without. CONCLUSION: Perioperative breathing training may reduce the incidence of postoperative pulmonary complications and preserve of arterial oxygenation after laparoscopic colorectal surgery.

A Multi-centered Cross-sectional Study of Disease Burden of Pain of Inpatients in Southwest China.

BACKGROUND: Pain is a common burden of disease globally; yet, it is not systematically investigated in China, especially in hospitalized patients. This study was aimed at clarifying the epidemiological characteristics of pain and related factors in hospitalized patients in Southwest China. METHODS: A cross-sectional study was conducted to investigate the prevalence, severity, and influencing factors of pain and modes of postoperative analgesia in hospitalized patients from 17 hospitals in Southwest China. A prevalidated questionnaire was employed to calibrate all of these items within 3 days from March 18, 2015 to March 20, 2015. RESULTS: A total of 2293 patients were surveyed, the incidence of pain was 57.4% in all hospitalized patients at rest, of which 62.1% were with acute pain and 37.9% had persistent to chronic pain. Among surgical patients, 90.8% of them complained of acute postoperative pain at rest and 97.1% in motion. The incidence of acute postoperative moderate-to-severe pain was 28.8% at rest and 45.1% in motion. Surgical patients reported higher incidences of pain, especially acute and persistent pain compared with nonsurgical patients (P < 0.05). Postoperative pain occurred predominately at surgical sites (95.2%) as compared with nonsurgical sites (4.8%). Agedness, lower education level, surgery, and history of smoking were factors associated with increased duration and severity of postoperative pain and nonsurgical pain (P < 0.05). CONCLUSIONS: Pain is a common burden of disease in China, of which surgical pain constituted an important component. Surgical patients complained more severe pain than those who did not undergo surgery. Postoperative analgesia still needs to be improved to control pain after surgery. Patients' perception might influence the efficacy of pain management, which should be implemented with a multidisciplinary approach.