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1.
Arch Orthop Trauma Surg ; 143(8): 4961-4976, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36781435

RESUMO

INTRODUCTION: The last systematic review on this topic was published in 2008. With advances in surgical techniques, patients with mangled extremities may now be potentially salvageable with comparable outcomes. This review aims to evaluate the outcomes of limb salvage compared to primary amputation in patients with severe open tibial fractures. MATERIALS AND METHODS: A comprehensive search on PubMed, MEDLINE, Embase, Web of Science, Scopus, CENTRAL and CINAHL was performed from inception to 19 January 2022. The primary outcome was to evaluate clinical and functional outcomes. Secondary outcomes were to evaluate pain, patient preference, quality of life, and patient preferences. Methodological quality was evaluated using the MINORS criteria. Pooled estimates of relative risk (RR) and mean difference (MD) with 95% confidence interval (CI) were used as a summary statistic for dichotomous variables and continuous variables, respectively. RESULTS: Sixteen studies with 645 patients met inclusion criteria. The methodological quality was moderate based on the MINORS score. The majority were male. Mean age was 36.3 years. There was no significant differences in the length of hospitalization (n = 8), return to work rates (n = 9), return to sport rates (n = 4) and quality of life scores (n = 4). Patients with primary amputation had a significantly lower risk of total complications (RR 0.21, 95% CI 0.08-0.53, p = 0.001) (n = 10), infections (RR 0.46, 95% CI 0.25-0.85, p = 0.01) (n = 9), and number of surgeries (MD - 4.17, 95% CI - 6.49 to - 1.85, p = 0.0004) (n = 6). Patients with primary amputation were able to ambulate significantly earlier (MD - 4.06, 95% CI - 7.65 to - 0.46, p = 0.03) (n = 3). Three studies found a significantly higher cost of hospitalization in limb salvage patients. Functional outcomes were similar in both groups. CONCLUSION: While patients with primary amputation had better clinical outcomes in the short-term, functional outcomes were not significantly different in both groups. Despite the heterogenicity of the results in this review, surgeons need to contextualize the decision making for their patients and incorporate these findings. LEVEL OF EVIDENCE: III. TRIAL REGISTRATION: PROSPERO CRD42022303357.


Assuntos
Salvamento de Membro , Fraturas da Tíbia , Humanos , Masculino , Feminino , Adulto , Salvamento de Membro/métodos , Qualidade de Vida , Fraturas da Tíbia/complicações , Fraturas da Tíbia/cirurgia , Extremidades/cirurgia , Amputação Cirúrgica
2.
Surgeon ; 20(4): e78-e85, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34158250

RESUMO

BACKGROUND: Surgical site infections (SSI) are preventable post-operative complications. With the increase in use of telehealth modalities, there is a need to assess if telehealth modalities are safe for assessment of SSI. AIM: This review aims to assess the accuracy of using telemedicine in the diagnosis of SSI in post-surgical adult patients as compared to in-person assessments. METHODS: A comprehensive search on 6 databases (PubMed, MEDLINE, Embase, Web of Science, Scopus and CENTRAL) was performed from inception to 1 December 2020. Data was extracted to determine accuracy, feasibility, acceptability, and usability of using telemedicine to detect SSIs. The primary outcome of this review was to review the diagnostic accuracy of telemedicine to diagnose SSIs as compared to direct, in-person assessment. Methodological quality was evaluated using the MINORS criteria. RESULTS: Six studies met inclusion criteria. Results were summarized qualitatively. The overall methodological quality of the studies was moderate based on the MINORS score. Four studies utilized telephone surveillance, whilst two utilized mobile applications. Telemedicine modalities were able to accurately diagnose 66 SSIs, where an additional 15 were found on direct clinical review. The diagnostic accuracy across the studies ranged from 69.5 to 100%. Between 82.5 and 100% of patients were able to be contacted through these telemedicine modalities. CONCLUSIONS: Telemedicine modalities are a feasible option for post-operative follow-up, especially in the identification of SSIs. As technology becomes more affordable and widely available, future applications of telemedicine are limitless. However, further research is still required to ensure that telemedicine is a safe and effective tool.


Assuntos
Infecção da Ferida Cirúrgica , Telemedicina , Adulto , Humanos , Infecção da Ferida Cirúrgica/diagnóstico , Infecção da Ferida Cirúrgica/epidemiologia , Infecção da Ferida Cirúrgica/prevenção & controle , Telemedicina/métodos
3.
Eur J Orthop Surg Traumatol ; 31(6): 1161-1169, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33417048

RESUMO

BACKGROUND: Acetabular fractures are rare but are severe injuries that occur in younger patients with a significant economic impact. There is limited evidence describing the return to work rates in this group of patients. The aim of our study was to examine the rate and time to return to work (RTW) after surgical fixation of acetabular fractures. METHODS: We performed a retrospective study on all patients with surgically treated acetabular fractures at a single institution between 1 July 2010 and 31 December 2018. Medical records were reviewed to analyze demographics such as age, gender, occupation and RTW characteristics. RESULTS: There were 30 patients, with a mean age of 43.3 ± 12.7 years. There were 26 patients who were employed prior to injury. The most common mechanism of injury was from a road traffic accident (73.3%). The average ISS was 8.9 ± 5.2. The mean follow-up duration was 21.5 months ± 15.7. The rate of RTW was 80.8%. Eighteen patients (85.7%) returned to the same job and duties, while two (9.5%) returned with same job but lighter duties and one (4.8%) had to change job. Three patients (11.5%) retired. The average time to return to work was 8.3 months (range 2-57.5). RTW rates were 15.4%, 61.5%, 69.2% at 3, 6 and 12 months, respectively. CONCLUSION: Acetabular fractures can lead to loss of economic productivity, with 80.8% of patients returning to work. Work reintegration programs after acetabular fractures are important.


Assuntos
Fraturas do Quadril , Fraturas da Coluna Vertebral , Humanos , Recém-Nascido , Estudos Retrospectivos , Retorno ao Trabalho
4.
Clin Exp Ophthalmol ; 48(5): 689-700, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32249477

RESUMO

BACKGROUND: Human corneal endothelial cells undergo very little or no proliferation and respond to cell loss by migration and cellular enlargement. Significant cell loss or damage may result in corneal oedema, opacity and loss of vision. In vitro expansion of corneal endothelial cells (CECs) is a promising strategy for corneal regeneration. The transition zone (TZ) may be an alternative source of CECs. The objective of this study was to establish a protocol for TZ cell culture, and to determine their potential to proliferate and differentiate into cells that resemble CECs in vitro. METHODS: An explant culture protocol for the human TZ was established. Cell proliferation was assessed using 5-ethynyl-2'-deoxyuridine (EdU) assay. The expression of stem cell and endothelial markers was assessed using immunohistochemistry and quantitative polymerase chain reaction. RESULTS: TZ cells can be passaged up to 12 times; cells became polygonal 3 to 4 passages before senescence. An average of 41% of cells incorporated EdU over a 5-day period. TZ cells expressed the corneal endothelial proteins ZO-1 and Na+ /K+ ATPase, Col8A2, the periocular mesenchyme marker PITX2, and the neural crest stem cell markers Nestin and Sox10. TZ cells expressed mRNA of a range of neural crest, periocular mesenchyme, and corneal endothelial genes. CONCLUSIONS: TZ cells can proliferate and differentiate into cells that resemble CECs, demonstrating their potential to be an alternative cell source for corneal endothelial cell therapy.


Assuntos
Células Endoteliais , Endotélio Corneano , Diferenciação Celular , Células Cultivadas , Córnea , Humanos , Células-Tronco
5.
Ann Plast Surg ; 83(3): 363-366, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31008793

RESUMO

Current medical literature has described many variations of the palmaris longus. One variation that is rarely seen is that of the accessory palmaris longus, which is better known in literature as the "palmaris profundus." This brief review will describe the anatomy and the developmental origins of the palmaris longus, as well as the clinical relevance of an accessory palmaris longus. We will also present a case on the accessory palmaris longus and discuss whether the accessory palmaris longus, if encountered during a routine carpal tunnel surgery, should be resected intraoperatively.


Assuntos
Músculo Esquelético/anormalidades , Músculo Esquelético/cirurgia , Idoso de 80 Anos ou mais , Variação Anatômica , Feminino , Antebraço , Humanos , Músculo Esquelético/anatomia & histologia
6.
Ann Plast Surg ; 83(3): 278-284, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31415292

RESUMO

INTRODUCTION: Hand and wrist surgeries are often carried out under local/regional anesthesia. We describe our experience using Surgeon Administered Local/Regional Anaesthesia (SALoRA) without sedation to deliver acute and elective hand surgery anesthesia in a tertiary public hospital in Singapore. This is in comparison to wide awake local anesthesia no tourniquet, which has been increasing in popularity. METHODS: Retrospective analysis was conducted on all surgeries performed under SALoRA between January 1, 2013, to December 31, 2016, at our institution. Surgeries on areas other than the hand, wrist, forearm, and elbow were excluded. The records were reviewed to analyze the demographics of the patients, profile of cases performed, and their outcomes. RESULTS: Of a total of 3016 cases performed, 1994 patients (1275 men; age, 45.78 ± 16 years) fulfilled the inclusion criteria and were available for analysis for the study period. The case distribution was similar to most other published data on day hand surgery cases. Tourniquet was used in 1357 (68%) of cases with an average operation time of 26 ± 19 minutes. Mean tourniquet use was 24 ± 15 minutes. Detailed analysis will be presented. CONCLUSION: This study shows the versatility of SALoRA in delivering hand surgery in a cost-effective manner. A wide spectrum of surgeries in the hand, wrist, forearm, and elbow can be performed using SALoRA safely. This has increased productivity, efficiency, and use of resources. SALoRA has the advantage of a guaranteed and reliable bloodless field, quick turnaround time without the need of extra personnel and resources needed for patient monitoring to abide by Joint Commission International requirements and the potential risk of systemic adrenaline effects.


Assuntos
Anestesia por Condução , Anestésicos Locais/administração & dosagem , Mãos/cirurgia , Procedimentos Cirúrgicos Operatórios , Adulto , Idoso , Anestesia Local , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
9.
Prog Retin Eye Res ; : 101285, 2024 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-38925508

RESUMO

There is an increasing body of knowledge regarding how COVID-19 may be associated with ocular disease of varying severity and duration. This article discusses the literature on the ocular manifestations associated with COVID-19, including appraisal of the current evidence, suggested mechanisms of action, associated comorbidities and risk factors, timing from initial infection to diagnosis and clinical red flags. The current literature primarily comprises case reports and case series which inevitably lack control groups and evidence to support causality. However, these early data have prompted the development of larger population-based and laboratory studies that are emerging. As new data become available, a better appraisal of the true effects of COVID-19 on the eye will be possible. While the COVID-19 pandemic was officially declared no longer a "global health emergency" by the World Health Organization (WHO) in May 2023, case numbers continue to rise. Reinfection with different variants is predicted to lead to a growing cumulative burden of disease, particularly as more chronic, multi-organ sequelae become apparent with potentially significant ocular implications. COVID-19 ocular manifestations are postulated to be due to three main mechanisms: firstly, there is a dysregulated immune response to the initial infection linked to inflammatory eye disease; secondly, patients with COVID-19 have a greater tendency towards a hypercoagulable state, leading to prothrombotic events; thirdly, patients with severe COVID-19 requiring hospitalisation and are immunosuppressed due to administered corticosteroids or comorbidities such as diabetes mellitus are at an increased risk of secondary infections, including endophthalmitis and rhino-orbital-mucormycosis. Reported ophthalmic associations with COVID-19, therefore, include a range of conditions such as conjunctivitis, scleritis, uveitis, endogenous endophthalmitis, corneal graft rejection, retinal artery and vein occlusion, non-arteritic ischaemic optic neuropathy, glaucoma, neurological and orbital sequelae. With the need to consider telemedicine consultation in view of COVID-19's infectivity, understanding the range of ocular conditions that may present during or following infection is essential to ensure patients are appropriately triaged, with prompt in-person ocular examination for management of potentially sight-threatening and life-threatening diseases.

10.
J Ophthalmic Inflamm Infect ; 13(1): 36, 2023 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-37615747

RESUMO

Multiple evanescent white dot syndrome has been reported to occur following COVID-19 vaccination and also secondary to COVID-19 infection. Increasingly, patients are querying their risk from further vaccination against COVID-19, vaccination for other diseases (such as influenza) and the risk of disease with COVID-19 infection itself. Here we report an interesting case in which the patient developed MEWDS following COVID vaccination, then, one year later, developed MEWDS in the fellow eye associated with COVID-19 infection.

11.
J Neuroendocrinol ; 35(7): e13247, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36973234

RESUMO

Oxytocin, a neuropeptide hormone, is indispensable for milk ejection during nursing and is important for uterine contractions during parturition. The exact functions of oxytocin in postpartum maternal behaviors and motivations require further investigation. To this end, we characterized the role of oxytocin in components of maternal motivations during the mid-postpartum period, which has not been previously studied. To maintain suckling stimuli, postpartum oxytocin knockout (Oxt-/- ) and heterozygous (Oxt+/- ) littermates were co-housed with a wild-type lactating mother and its litter, and were examined for their ability to retrieve pups under standard or high-risk conditions, nursing behavior, maternal aggression towards an unfamiliar intruder, and motivation to regain contact with separated pups. One-third of Oxt-/- mothers exhibited prolonged parturition but were otherwise grossly healthy. Despite their inability to eject milk, Oxt-/- mothers displayed nursing behaviors for similar durations to Oxt+/- mothers during the second postpartum week. In addition, Oxt-/- mothers were essentially intact for pup retrieval under standard conditions and were motivated to stay close to pups, although they showed a mild decrease in maternal care under high-risk conditions and increased anxiety-like behaviors in pup-related contexts. The present findings indicate that oxytocin is dispensable for nursing behavior and maternal motivations, yet suggest that oxytocin may be relevant for stress resilience in the postpartum period.


Assuntos
Lactação , Ocitocina , Gravidez , Humanos , Feminino , Camundongos , Animais , Ocitocina/fisiologia , Período Pós-Parto , Parto , Comportamento Materno/fisiologia
12.
N Z Med J ; 136(1584): 56-66, 2023 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-37856754

RESUMO

AIMS: To describe the aetiology, complications, treatment and outcomes of paediatric uveitis. METHODS: This was a retrospective chart review including all paediatric participants presenting with uveitis to a tertiary referral hospital in Auckland, New Zealand between January 1997 and March 2020. RESULTS: Two hundred and twenty-four eyes of 143 participants were included. One hundred and three (46.0%) eyes were found to have uveitis without the child reporting any symptoms. Non-infectious uveitis occurred in 97 (67.8%) participants and infectious aetiology occurred in 46 (32.2%) participants. One hundred and twenty-six (56.3%) eyes developed complications by final follow-up, including ocular hypertension (60 eyes, 26.8%), cataract (55 eyes, 24.6%) and glaucoma (21 eyes, 9.4%). Conventional disease modifying anti-rheumatic drugs (DMARDs) were required in 58 (59.8%) participants, and biologic disease modifying anti-rheumatic drugs in 31 (32.0%) participants with non-infectious uveitis. Participants who were younger at presentation were more likely to require a DMARD (OR 0.896 p=0.032). Vision loss of 6/15 or worse occurred in 38 (17.0%) eyes. CONCLUSIONS: Infections are an important cause of uveitis in this age group. Asymptomatic presentation and complications commonly occur. A large proportion of children with non-infectious uveitis will require steroid sparing immunosuppression.


Assuntos
Antirreumáticos , Catarata , Glaucoma , Uveíte , Humanos , Criança , Estudos Retrospectivos , Nova Zelândia/epidemiologia , Uveíte/tratamento farmacológico , Uveíte/epidemiologia , Uveíte/etiologia , Glaucoma/epidemiologia , Glaucoma/etiologia
13.
JAMIA Open ; 6(3): ooad056, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37538232

RESUMO

Objective: Clinical decision support (CDS) alerts can aid in improving patient care. One CDS functionality is the Best Practice Advisory (BPA) alert notification system, wherein BPA alerts are automated alerts embedded in the hospital's electronic medical records (EMR). However, excessive alerts can change clinician behavior; redundant and repetitive alerts can contribute to alert fatigue. Alerts can be optimized through a multipronged strategy. Our study aims to describe these strategies adopted and evaluate the resultant BPA alert optimization outcomes. Materials and Methods: This retrospective single-center study was done at Jurong Health Campus. Aggregated, anonymized data on patient demographics and alert statistics were collected from January 1, 2018 to December 31, 2021. "Preintervention" period was January 1-December 31, 2018, and "postintervention" period was January 1-December 31, 2021. The intervention period was the intervening period. Categorical variables were reported as frequencies and proportions and compared using the chi-square test. Continuous data were reported as median (interquartile range, IQR) and compared using the Wilcoxon rank-sum test. Statistical significance was defined at P < .05. Results: There was a significant reduction of 59.6% in the total number of interruptive BPA alerts, despite an increase in the number of unique BPAs from 54 to 360 from pre- to postintervention. There was a 74% reduction in the number of alerts from the 7 BPAs that were optimized from the pre- to postintervention period. There was a significant increase in percentage of overall interruptive BPA alerts with action taken (8 [IQR 7.7-8.4] to 54.7 [IQR 52.5-58.9], P-value < .05) and optimized BPAs with action taken (32.6 [IQR 32.3-32.9] to 72.6 [IQR 64.3-73.4], P-value < .05). We estimate that the reduction in alerts saved 3600 h of providers' time per year. Conclusions: A significant reduction in interruptive alert volume, and a significant increase in action taken rates despite manifold increase in the number of unique BPAs could be achieved through concentrated efforts focusing on governance, data review, and visualization using a system-embedded tool, combined with the CDS Five Rights framework, to optimize alerts. Improved alert compliance was likely multifactorial-due to decreased repeated alert firing for the same patient; better awareness due to stakeholders' involvement; and less fatigue since unnecessary alerts were removed. Future studies should prospectively focus on patients' clinical chart reviews to assess downstream effects of various actions taken, identify any possibility of harm, and collect end-user feedback regarding the utility of alerts.

14.
ANZ J Surg ; 92(9): 2072-2081, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35579060

RESUMO

INTRODUCTION: There have been reduced opportunities for surgical skill acquisition due to the COVID-19 pandemic and the regulated training hours. Despite these challenges, self-regulated learning allows trainees to learn continuously, and one form of this is through mental practice and motor imagery. The study aimed to design and develop an online basic micro suturing training module for skill acquisition for self-regulated learning using a low-fidelity rubber glove model. METHODS: This study utilized a design and developmental research framework and Mayer's multimedia theory guidelines. The primary author created an online instructional module on micro suturing based on the ADDIE instructional design model. This module was then evaluated in a pilot study comparing the new training model to traditional methods of learning using an experimental design. RESULTS: This study describes the use of Design and Development Research to create a new model for surgical skill training and a tool for producing instructional materials and learning products for online learning. The product was evaluated using an experimental design and showed a significant effect on the quality of motor skill outcome and the richness of motor imagery using the resource developed in the research. CONCLUSION: This study describes the methodological approach of a design and developmental framework to create an online training module for micro suturing which has significant utility in hand surgery.


Assuntos
COVID-19 , Pandemias , Competência Clínica , Humanos , Aprendizagem , Projetos Piloto , Suturas
15.
Arch Bone Jt Surg ; 10(1): 85-91, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35291250

RESUMO

Background: Cemented Total Knee Arthroplasty (TKA) provides excellent long-term survival rates and functional results, however, radiolucent lines (RLLs) often appear during early post-operative follow-up and their incidence and clinical significance are unknown. The primary aim was to establish the incidence, location, frequency, and time taken for RLLs to appear within the first year after a primary cemented TKA with an anatomic tibial baseplate (Smith and Nephew, LEGION Total Knee System). Methods: This was a retrospective analysis of 135 primary cemented TKA in 131 patients over three years. We compared demographics, serial radiographs, and early clinical and functional outcomes. Results: There were 65 TKAs (48%) in 62 patients who had RLLs within the first year post-operatively. Most were females (58.8%). Mean age was 68.3 ± 7.9 years. There were 88 RLLs, with the most and second commonest location at the medial tibial baseplate (38%) and anterior femoral flange (23%). 89% were in the bone-cement interface. The largest average length of RLLs were at the anterior flange of the femoral component (1.98 ± 1.33 mm). The average time to development was 6.5 ± 4.1 months. None of these patients had infections nor required revision. Patients with RLLs did not do worse in functional and clinical scoring at 1-year. Conclusion: There was a 48% incidence of physiological RLLs after cemented TKA, with the highest occurrence at the medial tibial baseplate at 38%. These radiolucent lines did not affect early post-operative clinical and functional outcomes of patients.

16.
J Hand Microsurg ; 14(1): 19-24, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35256824

RESUMO

Introduction Locoregional anesthesia techniques have been increasingly adopted for use in hand surgery in recent years. However, locoregional anesthesia techniques may place patients under significant psychological stress, and there has been limited evaluation of acceptance and satisfaction rates of these techniques. Materials and Methods An observational study was conducted in a single tertiary institution. Data were collected from patients undergoing upper limb surgery procedures with locoregional anesthesia. After completion of surgery, a questionnaire adapted from Evaluation du Vecu de l'Anesthesie LocoRegionale (EVAN-LR), with scores from 1 to 5 on the Likert scale, was conducted on the same day to evaluate patient satisfaction. Responses were also obtained from the operating surgeon to assess satisfaction. Results A total of 101 patients were evaluated as part of the study. All EVAN-LR domains received a mean score >4.5. Responses from surgeons also showed good acceptance of locoregional anesthesia techniques with almost all giving scores ≥4 on the Likert scale. Conclusion The results of this study showed good satisfaction and acceptance of locoregional anesthesia among patients for upper limb procedures. This provides reassurance regarding the quality of care with locoregional anesthesia techniques. It remains important to be aware of potential sources of discomfort such as tourniquet pain to minimize discomfort and maximize patient satisfaction.

17.
Biol Psychiatry ; 92(4): 323-334, 2022 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-35227461

RESUMO

BACKGROUND: The discovery of coding variants in genes that confer risk of intellectual disability (ID) is an important step toward understanding the pathophysiology of this common developmental disability. METHODS: Homozygosity mapping, whole-exome sequencing, and cosegregation analyses were used to identify gene variants responsible for syndromic ID with autistic features in two independent consanguineous families from the Arabian Peninsula. For in vivo functional studies of the implicated gene's function in cognition, Drosophila melanogaster and mice with targeted interference of the orthologous gene were used. Behavioral, electrophysiological, and structural magnetic resonance imaging analyses were conducted for phenotypic testing. RESULTS: Homozygous premature termination codons in PDZD8, encoding an endoplasmic reticulum-anchored lipid transfer protein, showed cosegregation with syndromic ID in both families. Drosophila melanogaster with knockdown of the PDZD8 ortholog exhibited impaired long-term courtship-based memory. Mice homozygous for a premature termination codon in Pdzd8 exhibited brain structural, hippocampal spatial memory, and synaptic plasticity deficits. CONCLUSIONS: These data demonstrate the involvement of homozygous loss-of-function mutations in PDZD8 in a neurodevelopmental cognitive disorder. Model organisms with manipulation of the orthologous gene replicate aspects of the human phenotype and suggest plausible pathophysiological mechanisms centered on disrupted brain development and synaptic function. These findings are thus consistent with accruing evidence that synaptic defects are a common denominator of ID and other neurodevelopmental conditions.


Assuntos
Disfunção Cognitiva , Deficiência Intelectual , Proteínas Adaptadoras de Transdução de Sinal/genética , Animais , Disfunção Cognitiva/genética , Consanguinidade , Drosophila , Drosophila melanogaster , Humanos , Deficiência Intelectual/genética , Camundongos , Mutação/genética
18.
Dis Model Mech ; 14(10)2021 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-34612482

RESUMO

Within the past 20 years, particularly with the advent of exome sequencing technologies, autosomal dominant and de novo mutations in the gene encoding the neurone-specific α3 subunit of the Na+,K+-ATPase (NKA α3) pump, ATP1A3, have been identified as the cause of a phenotypic continuum of rare neurological disorders. These allelic disorders of ATP1A3 include (in approximate order of severity/disability and onset in childhood development): polymicrogyria; alternating hemiplegia of childhood; cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss syndrome; relapsing encephalopathy with cerebellar ataxia; and rapid-onset dystonia-parkinsonism. Some patients present intermediate, atypical or combined phenotypes. As these disorders are currently difficult to treat, there is an unmet need for more effective therapies. The molecular mechanisms through which mutations in ATP1A3 result in a broad range of neurological symptoms are poorly understood. However, in vivo comparative studies using genetically altered model organisms can provide insight into the biological consequences of the disease-causing mutations in NKA α3. Herein, we review the existing mouse, zebrafish, Drosophila and Caenorhabditis elegans models used to study ATP1A3-related disorders, and discuss their potential contribution towards the understanding of disease mechanisms and development of novel therapeutics.


Assuntos
Modelos Animais de Doenças , Doenças do Sistema Nervoso/genética , ATPase Trocadora de Sódio-Potássio/genética , Animais , Animais Geneticamente Modificados , Humanos , Mutação , ATPase Trocadora de Sódio-Potássio/metabolismo
19.
Arch Bone Jt Surg ; 9(6): 618-632, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35106326

RESUMO

Obesity is associated with a greater prevalence of symptomatic knee osteoarthritis. Obese patients are thought to have worse outcomes following unicompartmental knee arthroplasty (UKA).The aim is to compare clinical and functional outcomes of UKA in obese to non-obese patients. A systematic review on six databases (PubMed, MEDLINE, Embase, Web of Science, Scopus, and CENTRAL) from inception through July 2020 was performed. We extracted data to determine revision risk (all-cause, septic, and aseptic), complication risk, and infection risk, functional outcome scores (Knee Society Score [KSS], Oxford Knee Score [OKS], and range of movement [ROM]) in patients with obesity (BMI >30kg/m2) to non-obese patients (BMI <30kg/m2). Meta-analysis was performed using a random effects model. The MINORS criteria was used for quality assessment. Twelve of 715 studies were eligible. Compared with non-obese patients, obese patients had a higher risk ratio for all-cause revision (RR 1.49; 95% CI 1.04 to 2.13; p = 0.03); aseptic revision (RR 1.36; 95% CI 1.01 to 1.81; p=0.04) and complications (RR 2.12; 95% CI 1.17 to 3.85; p=0.01). No significant differences were found in risk of septic revision and overall infection. Obese patients also had lower KSS scores (MD -3.21; 95% CI -5.52 to -0.89; p<0.01), OKS scores (MD -2.21; 95% CI -3.94 to -0.48; p=0.01), and ROM (MD -7.17; 95% CI -12.31 to -2.03; p<0.01). The average MINORS score was 14.2, indicating a moderate quality of evidence. In conclusion, the risk of revision, aseptic revision, and complications are higher in obese patients. The clinical significance of a lower functional score in obese may not be appreciable. Despite the greater risks, there is no conclusive evidence that obesity should be a contraindication to UKA. Further studies are required to corroborate the current conclusions with higher-quality study designs.

20.
Knee ; 30: 254-266, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33975066

RESUMO

INTRODUCTION: This study aims to evaluate the current literature with regard to the average time to and overall rate of return to work (RTW) following medial unicompartmental knee arthroplasty (UKA). METHODS: A systematic search was conducted on MEDLINE (Ovid), Embase, Pubmed, CINAHL, Web of Science, Scopus, and the Cochrane Library to identify studies reporting RTW after UKA. Primary outcomes were the rate and time to RTW after UKA. Secondary outcomes were postoperative changes in work intensity, functional scores, and factors affecting RTW. Methodological quality was evaluated using the the Methodological Index for Non-Randomized Studies (MINORS) criteria. RESULTS: Seven studies met inclusion criteria. Results were summarized qualitatively. The overall methodological quality of the studies was moderate based on the MINORS score. These studies included 636 patients with 46.5% male. Mean age was 63.1 years. The average rate of RTW was 81.7%. The average time to RTW was 5.4 ±â€¯3.9 weeks (range 1-32 weeks). 81.8% of patients in one study returned to an equally or more physically demanding job, while 83.5% were able to work the same or longer hours postoperatively in another study. Functional scores improved after surgery (n = 6 studies). Factors affecting RTW were postoperative rehabilitation, retirement, and the effects of surgery. CONCLUSION: Limited evidence from the included studies with moderate quality suggests that UKA allows patients to RTW faster, with a high rate of RTW and improved functional outcomes. However, consensus definitions and methods of work status analysis are needed for future studies.


Assuntos
Artroplastia do Joelho/reabilitação , Retorno ao Trabalho , Idoso , Artroplastia do Joelho/efeitos adversos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite do Joelho/cirurgia , Complicações Pós-Operatórias/etiologia , Período Pós-Operatório , Fatores de Tempo , Resultado do Tratamento
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