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1.
Frederic Tort Olatz Ugarteburu Laura Texid Sabrina Gea‐Sorlí Judit García‐Villoria Xnia Ferrer‐Corts ngela Arias Leslie Matalonga Laura Gort Isidre Ferrer Mariona Guitart‐Mampel Glria Garrabou Frederick M Vaz Ana Pristoupilova María Isabel Esteban Rodríguez Sergi Beltran Francesc Cardellach Ronald JA Wanders Cristina Fillat María Teresa García‐Silva Antonia Ribes 《Human mutation》2019,40(10):1700-1712
3‐Methylglutaconic aciduria (3‐MGA‐uria) syndromes comprise a heterogeneous group of diseases associated with mitochondrial membrane defects. Whole‐exome sequencing identified compound heterozygous mutations in TIMM50 (c.[341 G>A];[805 G>A]) in a boy with West syndrome, optic atrophy, neutropenia, cardiomyopathy, Leigh syndrome, and persistent 3‐MGA‐uria. A comprehensive analysis of the mitochondrial function was performed in fibroblasts of the patient to elucidate the molecular basis of the disease. TIMM50 protein was severely reduced in the patient fibroblasts, regardless of the normal mRNA levels, suggesting that the mutated residues might be important for TIMM50 protein stability. Severe morphological defects and ultrastructural abnormalities with aberrant mitochondrial cristae organization in muscle and fibroblasts were found. The levels of fully assembled OXPHOS complexes and supercomplexes were strongly reduced in fibroblasts from this patient. High‐resolution respirometry demonstrated a significant reduction of the maximum respiratory capacity. A TIMM50‐deficient HEK293T cell line that we generated using CRISPR/Cas9 mimicked the respiratory defect observed in the patient fibroblasts; notably, this defect was rescued by transfection with a plasmid encoding the TIMM50 wild‐type protein. In summary, we demonstrated that TIMM50 deficiency causes a severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology, such as the maintenance of proper mitochondrial morphology, OXPHOS assembly, and mitochondrial respiratory capacity. 相似文献
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LL Patton JA Phelan FJ Ramos-Gomez W Nittayananta CH Shiboski TL Mbuguye 《Oral diseases》2002,8(S2):98-109
OBJECTIVES: An International Workshop addressed the prevalence and classification of HIV/AIDS associated oral lesions.
DESIGN: Five questions provided the framework for discussion and literature review. What is the prevalence of oral lesions in children and adults? Should the accepted classification of HIV-related oral lesions be modified in the light of recent findings? Why is there a gender difference in the prevalence of oral lesions in developed and developing countries? Are there unusual lesions present in developing countries? Is there any association between modes of transmission and the prevalence of oral lesions?
RESULTS: Workshop discussion emphasized the urgent need for assistance in the development of expertise to obtain accurate global prevalence data for HIV-associated oral lesions. Oral candidiasis has been consistently reported as the most prevalent HIV-associated oral lesion in all ages. Penicilliosis marneffei, a newly described fungal infection, has emerged in South-east Asia. Oral hairy leukoplakia and Kaposi's sarcoma appear to be associated with male gender and male-to-male HIV transmission risk behaviours. These lesions occur only rarely in children.
CONCLUSIONS: Additional prevalence data are needed from developing countries prior to substantially altering the 1993 ECC/WHO Classification of oral lesions associated with adult HIV infection. The workshop confirmed current oral disease diagnostic criteria. 相似文献
DESIGN: Five questions provided the framework for discussion and literature review. What is the prevalence of oral lesions in children and adults? Should the accepted classification of HIV-related oral lesions be modified in the light of recent findings? Why is there a gender difference in the prevalence of oral lesions in developed and developing countries? Are there unusual lesions present in developing countries? Is there any association between modes of transmission and the prevalence of oral lesions?
RESULTS: Workshop discussion emphasized the urgent need for assistance in the development of expertise to obtain accurate global prevalence data for HIV-associated oral lesions. Oral candidiasis has been consistently reported as the most prevalent HIV-associated oral lesion in all ages. Penicilliosis marneffei, a newly described fungal infection, has emerged in South-east Asia. Oral hairy leukoplakia and Kaposi's sarcoma appear to be associated with male gender and male-to-male HIV transmission risk behaviours. These lesions occur only rarely in children.
CONCLUSIONS: Additional prevalence data are needed from developing countries prior to substantially altering the 1993 ECC/WHO Classification of oral lesions associated with adult HIV infection. The workshop confirmed current oral disease diagnostic criteria. 相似文献
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Visser-Meily A Post M Gorter JW Berlekom SB Van Den Bos T Lindeman E 《Disability and rehabilitation》2006,28(24):1557-1561
Purpose. To highlight the importance of the spouse in stroke rehabilitation. Stroke not only affects the patients, but also their families, but rehabilitation practice is still primarily focused on the patient only.
Method. Analysis of the position of the spouse and possible consequences of stroke for the spouse, based on the literature.
Results. Three roles of spouses are described: (i) the role of caregiver, as the spouse often provides extensive and comprehensive care for the patient; (ii) the role of client, as this informal care may lead to physical and emotional strain; and (iii) the role of family member, as the stroke affects the interpersonal relationships within the family system, not least the emotional and sexual relationship between the partners. This analysis provides an understanding of problems experienced by spouses as roles conflict and identifies topics for assessment and interventions directed at the spouse in the acute phase, rehabilitation phase and chronic phase of stroke.
Conclusion. We support a family-centred approach in which the strengths and needs of all family members, the patient with stroke included, are considered throughout all phases of the rehabilitation process. 相似文献
Method. Analysis of the position of the spouse and possible consequences of stroke for the spouse, based on the literature.
Results. Three roles of spouses are described: (i) the role of caregiver, as the spouse often provides extensive and comprehensive care for the patient; (ii) the role of client, as this informal care may lead to physical and emotional strain; and (iii) the role of family member, as the stroke affects the interpersonal relationships within the family system, not least the emotional and sexual relationship between the partners. This analysis provides an understanding of problems experienced by spouses as roles conflict and identifies topics for assessment and interventions directed at the spouse in the acute phase, rehabilitation phase and chronic phase of stroke.
Conclusion. We support a family-centred approach in which the strengths and needs of all family members, the patient with stroke included, are considered throughout all phases of the rehabilitation process. 相似文献
7.
Ramon R. Gorter Johanna H. van der Lee Florence A.C.J. Heijsters Huibert A. Cense Roel Bakx C.M. Frank Kneepkens Marc H. Wijnen Alida F.W. van der Steeg Klaas H. int Hof Martin Offringa Hugo A. Heij 《Journal of pediatric surgery》2018,53(9):1849-1854
Purpose
To compare the outcome of initially nonoperative treatment with immediate appendectomy for simple appendicitis in children.Methods
Between September 2012 and June 2014 children aged 7–17 years with a radiologically confirmed simple appendicitis were invited to participate in a multicentre prospective cohort study in which they were treated with an initially nonoperative treatment strategy; nonparticipants underwent immediate appendectomy. In October 2015, their rates of complications and subsequent appendectomies, and health-related quality of life (HRQOL) were assessed.Results
In this period, 25 children were treated with an initially nonoperative treatment strategy and 19 with immediate appendectomy; median (range) follow-up was 25 (16–36) and 26 (17–34) months, respectively. The percentage [95%CI] of patients experiencing complications in the initially nonoperative group and the immediate appendectomy group was 12 [4–30]% and 11 [3–31]%, respectively. In total 6/25 children (24%) underwent an appendectomy; none of the 6 patients operated subsequently experienced any postappendectomy complications. Overall, HRQOL in the nonoperative treatment group was similar to that of healthy peers.Conclusions
Outcome of initially nonoperative treatment for acute simple appendicitis in children is similar to the outcome in those who undergo immediate appendectomy. Initially nonoperative management seems to be able to avoid appendectomy in 3 out of 4 children.Level of evidence
2 (prospective comparative study). This research did not receive any specific grant from funding agencies in the public, commercial or not-for-profit sectors. 相似文献8.
EH Gemmill DJ Humes JA Catton 《Annals of the Royal College of Surgeons of England》2015,97(3):173-179
Introduction
Fast track methodology or enhanced recovery schemes have gained increasing popularity in perioperative care. While evidence is strong for colorectal surgery, its importance in gastric and oesophageal surgery has yet to be established. This article reviews the evidence of enhanced recovery schemes on outcome for this type of surgery.Methods
A systematic literature search was conducted up to March 2014. Studies were retrieved and analysed using predetermined criteria.Results
From 34 articles reviewed, 18 eligible studies were identified: 7 on gastric and 11 on oesophageal resection. Three randomised controlled trials, five case-controlled studies and ten case series were identified. The reported protocols included changes to each stage of the patient journey from pre to postoperative care. The specific focus following oesophageal resections was on early mobilisation, a reduction in intensive care unit stay, early drain removal and early (or no) contrast swallow studies. Following gastric resections, the emphasis was on reducing epidural anaesthesia along with re-establishing oral intake in the first three postoperative days and early removal of nasogastric tubes.In the papers reviewed, mortality rates following fast track surgery were 0.8% (9/1,075) for oesophageal resection and 0% (0/329) for gastric resection. The reported morbidity rate was 16.5% (54/329) following gastric resection and 38.6% (396/1,075) following oesophageal resection. Length of stay was reduced in both groups compared with conventional recovery groups in comparative studies.Conclusions
The evidence for enhanced recovery schemes following gastric and oesophageal resection is weak, with only three (low volume) published randomised controlled trials. However, the enhanced recovery approach appears safe and may be associated with a reduction in length of stay. 相似文献9.
Nemandra Sandiford SK Muirhead-Allwood JA Skinner 《Indian Journal of Orthopaedics》2015,49(6):595-601
Background:
Hip resurfacing arthroplasty (HRA) is primarily indicated for young, active patients with disabling coxarthrosis who wish to remain active and return to sports after surgery. Relatively few prospective studies have assessed return to sporting activity and impact of gender and age on this.Materials and Methods:
Seventy-nine consecutive patients treated with HRA were included. Patients were reviewed clinically and radiologically. Function was assessed using the modified University of California Los Angeles (UCLA) activity score. The Oxford, Harris and WOMAC hip scores were calculated.Results:
Average age at the time of surgery was 54.9 years (range 34.5–73.6 years). Average preoperative and postoperative UCLA scores were 4 and 7.6 respectively. Patients were involved in 2 (0–4) sporting activities preoperatively and 2 (0–5) postoperatively. Preoperative and postoperative Oxford Hip Scores, Harris Hip Score and WOMAC scores were 40, 46 and 51 and 16, 94 and 3 respectively (P < 0.0001). Patients returned to sports at an average of 3 months postoperatively.Conclusion:
Patients were able to return to sports by 3 months and perform the same number of activities at preoperative intensity. Activity levels are maintained up to the medium term with few complications. 相似文献10.
Sven Goetstouwers Dagmar Kempink Bertram The Denise Eygendaal Bart van Oirschot Christiaan JA van Bergen 《World journal of orthopedics》2022,13(1):1-10
Three-dimensional (3D) printing is a rapidly evolving and promising field to improve outcomes of orthopaedic surgery. The use of patient-specific 3D-printed models is specifically interesting in paediatric orthopaedic surgery, as limb deformity corrections often require an individual 3D treatment. In this editorial, various operative applications of 3D printing in paediatric orthopaedic surgery are discussed. The technical aspects and the imaging acquisition with computed tomography and magnetic resonance imaging are outlined. Next, there is a focus on the intraoperative applications of 3D printing during paediatric orthopaedic surgical procedures. An overview of various upper and lower limb deformities in paediatrics is given, in which 3D printing is already implemented, including post-traumatic forearm corrections and proximal femoral osteotomies. The use of patient-specific instrumentation (PSI) or guiding templates during the surgical procedure shows to be promising in reducing operation time, intraoperative haemorrhage and radiation exposure. Moreover, 3D-printed models for the use of PSI or patient-specific navigation templates are promising in improving the accuracy of complex limb deformity surgery in children. Lastly, the future of 3D printing in paediatric orthopaedics extends beyond the intraoperative applications; various other medical applications include 3D casting and prosthetic limb replacement. In conclusion, 3D printing opportunities are numerous, and the fast developments are exciting, but more evidence is required to prove its superiority over conventional paediatric orthopaedic surgery. 相似文献