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Background: Extracellular matrix molecular components, previously linked to multisystem syndromes include collagens, fibrillins and laminins. Recently, we described a novel multisystem syndrome caused by the c.9418G>A p.(V3140M) mutation in the laminin alpha-5 (LAMA5) gene, which affects connective tissues of all organs and apparatus in a three generation family. In the same family, we have also reported a myopic trait, which, however, was linked to the Prolyl 4-hydroxylase subunit alpha-2 (P4HA2) gene. Results of investigation on vitreous changes and their pathogenesis are reported in the present study.Materials and Methods: Nineteen family individuals underwent complete ophthalmic examination including best-corrected visual acuity (BCVA), fundus examination, fundus photography, intraocular pressure measurement, axial length measurement using ocular biometry, Goldmann visual field examination, standard electroretinogram, SD-OCT. Segregation analysis of LAMA5 and P4HA2 mutations was performed in enrolled members.Results: The vitreous alterations fully segregated with LAMA5 mutation in both young and adult family members. Slight reduction of retinal thickness and peripheral retinal degeneration in only two patients were reported.Conclusions: In this work we showed that PVD is a common trait of LAMA5 multisystem syndrome, therefore occurring as an age-unrelated trait. We hypothesize that the p.(V3140M) mutation results in a reduction of retinal inner limiting membrane (ILM) stability, leading to a derangement in the macromolecular structure of the vitreous gel, and PVD. Further investigations will be necessary to elucidate the role of wild type and mutated LAMA5 in the pathogenesis of PVD.  相似文献   
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Objectives

To determine the incidence of incisional hernia (IH) in the extraction incision (EI) in colorectal resection for cancer. To analyze whether the location of the incision has any relationship with the incidence of hernias and whether mesh could be useful for prevention in high-risk patients.

Methods

Retrospective review of the colon and rectal surgery database from January 2015 to December 2016. Data were classified into 2 groups, transverse (TI) and midline incision (MI), and the latter was divided into 2 subgroups (mesh [MIM] and suture [MIS]). Patients were classified using the HERNIAscore. Hernias were diagnosed by clinical and/or CT examination.

Results

A total of 182 out of 210 surgical patients were included. After a median follow-up of 13.0 months, 39 IH (21.9%) were detected, 23 of which (13.4%) were in the EI; their frequency was lower in the TI group (3.4%) and in the MIM group (5.9%) than in the MIS group (29.5%; p = 0.007). The probability of developing IH in the MIS group showed an OR = 11.7 (95%CI: 3.3-42.0) compared to the TI group and 4.3 (IC 95%: 1.1-16.3) versus the MIM group.

Conclusions

The location of the incision is relevant to avoid incisional hernias. Transverse incisions should be used as the first option. When a midline incision is needed, a prophylactic mesh could be considered in high risk patients because it is safe and associated with low morbidity.  相似文献   
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Even if the relationships between nutrition and inflammatory bowel disease (IBD) remain underexplored, the current literature is providing, day by day, much more evidence on the effects of various diets in both prevention and treatment of such illnesses. Wrong dietary habits, together with other environmental factors such as pollution, breastfeeding, smoke, and/or antibiotics, are among the theoretical pathogenetic causes of IBD, whose multifactorial aetiology has been already confirmed. While some of these risk factors are potentially reversible, some others cannot be avoided, and efficient treatments become necessary to prevent IBD spread or recurrence. Furthermore, the drugs currently available for treatment of such disease provide low-to-no effect against the symptoms, making the illnesses still strongly disabling. Whether nutrition and specific diets will prove to effectively interrupt the course of IBD has still to be clarified and, in this sense, further research concerning the applications of such dietary interventions is still needed.  相似文献   
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目的 探讨在苯妥英钠(Phenytoin,PHT)促进大鼠牙周膜干细胞(Rat periodontal ligament stem cells,rPDLSCs)、大鼠骨髓间充质干细胞(Rat Bone Marrow Mesenchymal Stem Cells,rBMMSCs)黏附于牙骨质过程中,整合素α5β1(Integrin α5β1)起到的作用。方法 提取大鼠BMMSCs和PDLSCs,培养并纯化。通过细胞鉴定后,将获得的两种细胞各分为4组:40 mg/L PHT处理组、40 mg/L PHT+整合素α5抗体处理组、40 mg/L PHT+整合素β1抗体处理组、PBS处理组,每组细胞放入置有牙骨质片的96孔板处理4 h后,检测黏附于牙骨质片上的细胞量并做以比较。最后,利用qRT-PCR和Western blot检测40 mg/L PHT组与对照组细胞的整合素α5、β1亚基的mRNA与蛋白表达量。结果 40 mg/L PHT可促进rBMMSCs及rPDLSCs黏附于牙骨质片,加入整合素α5、β1抗体后,均明显抑制了40 mg/L PHT对rBMMSCs、rPDLSCs黏附于牙骨质的促进作用(P<0.01)。qRT-PCR、Western-blot结果显示PHT处理组的整合素α5、β1亚基表达量高于空白对照组(P<0.05)。结论 40 mg/L PHT能促进rBMMSCs、rPDLSCs黏附于牙骨质,该作用与整合素α5β1的表达上调密切相关。  相似文献   
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BACKGROUND CONTEXT

Health-related quality of life (HRQOL) parameters have been shown to be reliable and valid in patients with adult spinal deformity (ASD). Minimum clinically important difference (MCID) has become increasingly important to clinicians in evaluating patients with a threshold of improvement that is clinically relevant.

PURPOSE

To calculate MCID and minimum detectable change (MDC) values of total scores of the Core Outcome Measures Index (COMI), Oswestry Disability Index (ODI), Physical Component Summary (PCS), Mental Component Summary (MCS) of the Short Form 36 (SF-36), and Scoliosis Research Society 22R (SRS-22R) in surgically and nonsurgically treated ASD patients who have completed an anchor question at pretreatment and 1-year follow-up.

STUDY DESIGN/SETTING

Prospective cohort.

PATIENT SAMPLE

Surgical and nonsurgical patients from a multicenter ASD database.

OUTCOME MEASURES

Self-reported HRQOL measures (COMI, ODI, SF-36, SRS-22R, and anchor question).

METHODS

A total of 185 surgical and 86 nonsurgical patients from a multicenter ASD database who completed pretreatment and 1-year follow-up HRQOL scales and the anchor question at the first year follow-up were included. The anchor question was used to determine MCID for each HRQOL measure. MCIDs were calculated by an anchor-based method using latent class analysis (LCA) and MDCs by a distribution-based method.

RESULTS

All differences between means of baseline and first year postoperative total score measures for all scales demonstrated statistically significant improvements in the overall population as well as the surgically treated patients but not in the nonsurgical group. The calculated MDC and MCID values of HRQOL parameters in the entire study population were 1.34 and 2.62 for COMI, 10.65 and 14.31 for ODI, 6.09 and 7.33 for SF-36 PCS, 6.14 and 4.37 for SF-36 MCS, and 0.42 and 0.71 for SRS-22R. The calculated MCID values for surgical and non-surgical treatment groups were 2.76 versus 1.20 for COMI, 14.96 versus 2.45 for ODI, 7.83 versus 2.15 for SF-36 PCS, 5.14 versus 2.03 for SF-36 MCS, and 0.94 versus 0.11 for SRS-22R; the MDC values for surgical and nonsurgical treatment groups were 1.22 versus 1.51 for COMI, 10.27 versus 9.45 for ODI, 5.16 versus 6.77 for SF-36 PCS, 6.05 versus 5.67 for SF-36 MCS, and 0.38 versus 0.43 for SRS-22R.

CONCLUSIONS

This study has demonstrated that MCID calculations for the HRQOL scales in ASD using LCA yield values comparable to other studies that had used different methodologies. The most important finding was the significantly different MCIDs for COMI, ODI, SF-36 PCS and SRS-22 in the surgically and nonsurgically treated cohorts. This finding suggests that a universal MCID value, inherent to a specific HRQOL for an entire cohort of ASD may not exist. Use of different MCIDs for surgical and nonsurgical patients may be warranted.  相似文献   
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