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During the COVID-19 pandemic, Türkiye implemented a distinctive contact tracing approach involving in-person home visits by medical professionals to individuals who tested positive for the virus. This study examines the experiences of health professionals involved in contact tracing, exploring how they reappropriated their professional subjectivity and agency during their deployment in this role. It is an interpretive phenomenological qualitative study. We conducted 21 semi-structured in-depth interviews, subsequently carried out two separate focus group interviews with an additional 31 participants from various districts in Istanbul. Participants were selected from different medical professions (i.e. doctors, nurses, midwives), career stages, gender and age groups, and hierarchical levels (i.e. officers and directors). Data analysis was conducted collaboratively by the research team from sociology and public health disciplines. Our main finding is that for the majority of health professionals, contact tracing was a novel experience with challenges and ambivalances. Yet, regardless of their perceptions (positive, negative, or mixed), the experience promoted a reaffirmation of professional identity and reappropriation of professional subjectivity and agency, which discloses that professional subjectivity is not firm but dynamic, carrying stability as well as flexibility and adjustment. Four main themes are identified in their reappropriation of professional subjectivity and agency: uncovering professional fulfillment, feeling restrained in professional dissatisfaction, assessing the job, and engaging in professional and bureaucratic negotiations.The profound exploration into the dynamics of contact tracing amidst the pandemic illuminates a multidimensional narrative that transcends the conventional discourse on physical and psychological stress experienced by medical professionals. Contact tracing experience had a transformative impact on meaning and purpose of professional identity. Our findings highlight a need for a balanced approach between centralized decision-making, mobilization of professionals, quantitative evaluation, and professional autonomy and discretion, qualitative assessments, and meaningful engagement.
Subject(s)
COVID-19 , Contact Tracing , Health Personnel , Qualitative Research , Humans , COVID-19/epidemiology , COVID-19/psychology , Contact Tracing/methods , Female , Male , Health Personnel/psychology , Adult , Turkey/epidemiology , Middle Aged , SARS-CoV-2 , Focus Groups , Pandemics , Courage , Attitude of Health Personnel , Interviews as TopicABSTRACT
PURPOSE: We describe 3 families with Charcot-Marie-Tooth neuropathy (CMT), harboring a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant previously linked to fatal Leigh syndrome. We aimed to characterize clinically and molecularly the newly identified patients and understand the mechanism underlying their milder phenotype. METHODS: The patients underwent extensive clinical examinations. Exome sequencing was done in 4 affected individuals. The functional effect of the c.309+5G>A variant was investigated in patient-derived EBV-transformed lymphoblasts at the complementary DNA, protein, and mitochondrial level. Alternative splicing was evaluated using complementary DNA long-read sequencing. RESULTS: All patients presented with early-onset, slowly progressive axonal CMT, and nystagmus; some exhibited additional central nervous system symptoms. The c.309+5G>A substitution caused the expression of aberrantly spliced transcripts and negligible levels of the canonical transcript. Immunoblotting showed reduced levels of mutant isoforms. No detectable defects in mitochondrial complex stability or bioenergetics were found. CONCLUSION: We expand the clinical spectrum of NDUFS6-related mitochondrial disorders to include axonal CMT, emphasizing the clinical and pathophysiologic overlap between these 2 clinical entities. This work demonstrates the critical role that alternative splicing may play in modulating the severity of a genetic disorder, emphasizing the need for careful consideration when interpreting splice variants and their implications on disease prognosis.
Subject(s)
Alternative Splicing , Charcot-Marie-Tooth Disease , Mitochondrial Diseases , Humans , Alternative Splicing/genetics , Male , Female , Charcot-Marie-Tooth Disease/genetics , Charcot-Marie-Tooth Disease/pathology , Mitochondrial Diseases/genetics , Mitochondrial Diseases/pathology , Child , NADH Dehydrogenase/genetics , Pedigree , Mutation/genetics , Phenotype , Exome Sequencing , Leigh Disease/genetics , Leigh Disease/pathology , Mitochondria/genetics , Mitochondria/pathology , Electron Transport Complex I/genetics , Adult , Child, Preschool , AdolescentABSTRACT
Traumatic brain injury (TBI) is a debilitating acquired neurological disorder that afflicts nearly 74 million people worldwide annually. TBI has been classified as more than just a single insult because of its associated risk toward various long-term neurological and neurodegenerative disorders. This risk may be triggered by a series of postinjury secondary molecular and cellular pathology, which may be dependent on the severity of the TBI. Among the secondary injury mechanisms, neuroinflammation may be the most crucial as it may exacerbate brain damage and lead to fatal consequences when prolonged. This Review aimed to elucidate the influence of neuroinflammatory mediators on the TBI functional and pathological outcomes, particularly focusing on inflammatory cytokines which were associated with neuronal dysfunctions in the acute and chronic stages of TBI. These cytokines include interleukins (IL) such as IL-1(beta)ß, IL-4, IL-6, IL8, IL-10, IL-18, IL-33 and tumor necrosis factor alpha (TNF-α), which have been extensively studied. Apart from these, IL-2, interferon gamma (IFN-γ), and transforming growth factor-beta (TGF-ß) may also play a significant role in the pathogenesis of TBI. These neuroinflammatory mediators may trigger a series of pathological events such as cell death, microglial suppression, and increased catecholaminergic activity. Interestingly, in the acute phase of TBI, most of these mediators may also play a neuroprotective role by displaying anti-inflammatory properties, which may convert to a pro-inflammatory action in the chronic stages post TBI. Early identification and treatment of these mediators may help the development of more effective treatment options for TBI.
Subject(s)
Brain Injuries, Traumatic , Brain Injuries , Animals , Brain Injuries/pathology , Brain Injuries, Traumatic/complications , Cytokines/metabolism , Disease Models, Animal , Humans , Microglia/metabolismABSTRACT
OBJECTIVE: To compare the functional results and complications of open reduction-internal fixation and hemiarthroplasty performed in Neer three-part and four-part proximal humerus fractures. METHODS: The retrospective study was conducted at the Istanbul Training and Research Hospital, Turkey, and comprised data of patients who were diagnosed with three-part or four-part fracture of the proximal humerus and underwent surgical procedure between January 2008 and April 2013. Those who had undergone open reduction-internal fixation using anatomical locking plates were placed in group A, and those who had undergone hemiarthroplasty were in group B. Constant-Murley shoulder outcome, University of California at Los Angeles shoulder and visual analogue scale scores were compared between the two groups. The degrees of forward flexion and abduction of the glenohumeral joint were recorded. Complications in both the groups were recorded. Data was analysed using SPSS 15.\. RESULTS: Of the 48 patients, 30(62.5%) were in group A; 16(53.3%) males and 14(46.7%) females, with an overall mean age of 60.0±9.4 years. The remaining 18(37.5%) were in group B; 7(39%) males and 11(61%) females, with an overall mean age of 67.3±10.1 years. The mean follow-up period was 18.7±16.4 months. The mean Constant-Murley and University of California at Los Angeles shoulder scores were not significantly different between the two groups (p>0.05). The mean visual analogue scale score was significantly higher in group A compared to group B (p=0.021). In group A, heterotropic ossification was observed in 1(3.4%) patient, avascular necrosis in 3(10%), screw penetration without avascular necrosis in 4(13.2%), and non-union in 1(3.4%), while in group B, shoulder subluxation was noted in 2(11.1%) patients and malunion of the greater tubercle in 6(33.3%). CONCLUSION: Although statistically non-significant, higher functional scores, forward flexion and abduction degrees were observed in patients who had undergone open reduction-internal fixation, while significantly lower visual analogue scale scores were recorded in the hemiarthroplasty group.
Subject(s)
Hemiarthroplasty , Shoulder Fractures , Aged , Female , Hemiarthroplasty/adverse effects , Humans , Humerus , Male , Middle Aged , Retrospective Studies , Shoulder Fractures/diagnostic imaging , Shoulder Fractures/surgery , Treatment OutcomeABSTRACT
Background/aim: In up to 20% of epilepsy patients, seizures may not be controlled despite the use of antiepileptic drugs, either alone or in combination. These individuals are considered to have drug-resistant epilepsy. Drug-resistant epilepsy is usually associated with intellectual disability, psychiatric comorbidity, physical injury, sudden unexpected death, and low quality of life. Early detection and prediction of drug-resistant epilepsy are essential in determining the patient's most appropriate treatment option. This retrospective study aimed to determine the clinical, electroencephalographic, and radiological factors associated with medically intractable childhood seizures. Materials and methods: Data regarding 177 patients diagnosed with drug-resistant epilepsy were compared with 281 patients with drug-responsive epilepsy. Results: Univariate analysis showed that age at seizure onset, having mixed seizure types, history of status epilepticus, history of neonatal seizures, history of both having febrile and afebrile seizures, daily seizures at the onset, abnormality on the first electroencephalogram, generalized epileptic abnormality on electroencephalogram, abnormal neurodevelopmental status, abnormal neuroimaging, and having symptomatic etiology were significant risk factors for the development of drug-resistant epilepsy (p < 0.05). In multivariable analysis, having mixed seizure types, history of status epilepticus, having multiple seizures in a day, intellectual disability, symptomatic etiology, and neuroimaging abnormality remained significant predictors for developing drug-resistant epilepsy. Conclusions: In the course of childhood epilepsy, some clinical features may predict the outcome. Early identification of patients with high risk for drug-resistant epilepsy will help plan the appropriate treatment option. Further prospective studies should confirm these findings.
Subject(s)
Epilepsy , Intellectual Disability , Pharmaceutical Preparations , Status Epilepticus , Anticonvulsants/therapeutic use , Child , Epilepsy/drug therapy , Epilepsy/epidemiology , Humans , Infant, Newborn , Intellectual Disability/drug therapy , Intellectual Disability/epidemiology , Prospective Studies , Quality of Life , Retrospective Studies , Seizures/drug therapy , Status Epilepticus/drug therapy , Status Epilepticus/epidemiologyABSTRACT
OBJECTIVE: In this study we aimed to investigate the long-term clinical and radiological results, revision rates and causes, and the rate of implant survival in total hip arthroplasty performed using CLS® expansion cup and Spotorno® cementless femoral stem. METHODS: Clinical results of total hip arthroplasty performed on 131 hips of 114 patients in Istanbul Training and Research Hospital between 1993 and 2003 were retrospectively evaluated according to the Harris Hip Score. Revision rates were determined and implant survival rates were identified using the Kaplan-Meier estimator. RESULTS: Of the patients, 39 were males and 75 were females. The average age of the patients at surgery was 48.7±11.3 years. Patients were followed up for a mean period of 13.9±2.4 years. The mean Harris Hip Score was 34.35±6.09 preoperatively and 88.20±7.11 at the final follow-up (p<0.001). The Kaplan-Meier survivorship estimate for the cup at 13.9 years, taking revision for any reason as the end point was 95.6% (95% CI), while the 15th and 17th year survival rates were 90% and 85%, respectively. CONCLUSION: In total hip arthroplasty using a cementless expansive acetabular cup, a 95.6% survival rate is achieved after an average of 14 years, whereas the rate decreases to 85% after 17 years. Even if the incidence of cup breakage is reduced with proper implantation, particle disease and periacetabular osteolysis remains a problem for the long-term survival.
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Objective The aim of this study was to investigate the distribution of the causes of traumatic fractures, types of fractures, and fractures requiring surgery occurred during the one month period following the measures taken by the government due to the COVID-19 pandemic and to compare these data with that of the previous year. Patients and methods The number of patients with fractures, the distribution of these fractures and the number of patients who had surgical indications and underwent a surgery were identified. Patients' age, gender and the type of trauma they were exposed to were determined. Results While there were 117 patients who were diagnosed with a fracture during the one month period in 2020, 619 patients had presented to our department during the same period in 2019. When compared to 2019, the prevalence of the trauma mechanisms for falling from height, traffic accident, low-energy trauma, firearm injury and sports injuries decreased by 91.7%, 85.7%, 80.3%, 80.0% and 72.7%, respectively, in 2020. A statistically significant increase was proportionally observed in pediatric supracondylar humerus, boxer's and hip fractures (p<0.001). Conclusion Compared to the same period last year, although the number of patients with fractures decreased significantly following the implementation of most of the public quarantine measures, a statistically significant increase was observed in pediatric supracondylar humerus, boxer and hip fractures on a proportional basis.
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Epilepsy is a devastating neurological disorder characterized by the repeated occurrence of epileptic seizures. Epilepsy stands as a global health concern affecting around 70 million people worldwide. The mainstream antiepileptic drugs (AEDs) only exert symptomatic relief and drug-resistant epilepsy occurs in up to 33 percent of patients. Hence, the investigation of novel therapeutic strategies against epileptic seizures that could exert disease modifying effects is of paramount importance. In this context, compounds of natural origin with potential antiepileptic properties have recently gained increasing attention. Quercetin is a plant-derived flavonoid with several pharmacological activities. Emerging evidence has demonstrated the antiepileptic potential of quercetin as well. Herein, based on the available evidence, we discuss the neuroprotective effects of quercetin against epileptic seizures and further analyze the plausible underlying molecular mechanisms. Our review suggests that quercetin might be a potential therapeutic candidate against epilepsy that deserves further investigation, and paves the way for the development of plant-derived antiepileptic treatment approaches.
Subject(s)
Epilepsy , Neuroprotective Agents , Anticonvulsants/therapeutic use , Epilepsy/drug therapy , Humans , Neuroprotective Agents/therapeutic use , Quercetin/therapeutic use , Seizures/drug therapyABSTRACT
Epilepsy is a neurologicaldisorder characterized by persistent predisposition to recurrent seizurescaused by abnormal neuronal activity in the brain. Epileptic seizures maydevelop due to a relative imbalance of excitatory and inhibitory neurotransmitters. Expressional alterations of receptors and ion channelsactivated by neurotransmitters can lead to epilepsy pathogenesis. AIMS: In this updated comprehensive review, we discuss the emerging implication of mutations in neurotransmitter-mediated receptors and ion channels. We aim to provide critical findings of the current literature about the role of neurotransmitters in epilepsy. MATERIALS AND METHODS: A comprehensive literature review was conducted to identify and critically evaluate studies analyzing the possible relationship between epilepsy and neurotransmitters. The PubMed database was searched for related research articles. KEY FINDINGS: Glutamate and gamma-aminobutyric acid (GABA) are the main neurotransmitters playing a critical role in the pathophysiology of this balance, and irreversible neuronal damage may occur as a result of abnormal changes in these molecules. Acetylcholine (ACh), the main stimulant of the autonomic nervous system, mediates signal transmission through cholinergic and nicotinic receptors. Accumulating evidence indicates that dysfunction of nicotinic ACh receptors, which are widely expressed in hippocampal and cortical neurons, may be significantly implicated in the pathogenesis of epilepsy. The dopamine-norepinephrine-epinephrine cycle activates hormonal and neuronal pathways; serotonin, norepinephrine, histamine, and melatonin can act as both hormones and neurotransmitters. Recent reports have demonstrated that nitric oxide mediates cognitive and memory-related functions via stimulating neuronal transmission. SIGNIFICANCE: The elucidation of the role of the main mediators and receptors in epilepsy is crucial for developing new diagnostic and therapeutic approaches.
Subject(s)
Epilepsy/physiopathology , Neurotransmitter Agents/metabolism , Receptors, Neurotransmitter/genetics , Acetylcholine/metabolism , Animals , Epilepsy/genetics , Glutamic Acid/metabolism , Humans , Mutation , Nitric Oxide , gamma-Aminobutyric Acid/metabolismABSTRACT
BACKGROUND: The aims of this study were: 1. To evaluate the use of the tibial tubercle-trochlear groove (TT-TG) distance as a measurement showing rotational instability after anterior cruciate ligament (ACL) injury. 2. To determine the effect of concomitant anterolateral ligament (ALL) injury on TT-TG distance. METHODS: Knee magnetic resonance (MR) images of 251 patients were retrospectively evaluated to compare the study group (131 patients) who underwent ACL reconstruction due to acute complete ACL injury and the control group (120 patients) without any trauma and/or patellofemoral instability. The rate of secondary signs of ACL injury (Anterolateral ligament injury, Kissing lesion, Anterior tibial translocation, Buckling of the posterior cruciate ligament (PCL)) in the study group was noted. The relationship between the TT-TG distance and other secondary signs was examined. RESULTS: TT-TG distance was measured as 10.83 ± 1.2 mm, 12.88 ± 1.1 mm, 14.17 ± 1.5 mm in control, isolated ACL and ACL + ALL groups, respectively (p < 0.05). TT-TG distance was significantly higher in the patients with ALL injury and kissing lesions than the patients without these lesions (p Ë 0.05). TT-TG distance did not differ significantly between the patients with and without anterior tibial translocation or buckling of the PCL (p Ë 0.05). TT-TG distance measurements showed significant interobserver 0.994 (0.992-0.996) and intraobserver 0.997 (0.996-0.998) correlation. CONCLUSIONS: TT-TG distance measurement can be used as a reliable quantitative measure of the increased rotational instability after ACL injury. TT-TG distance increases significantly if there is an ALL injury accompanying the ACL injury.
Subject(s)
Anterior Cruciate Ligament Injuries/diagnosis , Anterior Cruciate Ligament Reconstruction/methods , Magnetic Resonance Imaging/methods , Patellofemoral Joint/diagnostic imaging , Posterior Cruciate Ligament/diagnostic imaging , Range of Motion, Articular/physiology , Adult , Anterior Cruciate Ligament Injuries/physiopathology , Anterior Cruciate Ligament Injuries/surgery , Female , Humans , Male , Patellofemoral Joint/physiopathology , Patellofemoral Joint/surgery , Recurrence , Retrospective StudiesABSTRACT
CONTEXT: Seizures are the most frequent neurological disturbance in the neonatal period, and there are no evidence-based guidelines for the treatment of neonatal seizures. Here we report a study on the use of levetiracetam as second-line therapy in the treatment of seizures in term and preterm neonates. AIM: The aim of this study was to assess the efficacy and safety of levetiracetam for seizures of term and preterm neonates. SETTINGS AND DESIGN: We retrospectively analyzed data of the patients who had seizures and who were treated with levetiracetam as an add-on therapy to phenobarbital during the neonatal period. STATISTICAL ANALYSIS: The Statistical Package for the Social Sciences (SPSS) software, version 15.0 (SPSS, Chicago, Illinois), was used for statistical analysis. Continuous variables were expressed as mean values and standard deviations. RESULTS: Thirty-six patients (8 term and 28 preterm) received levetiracetam. Mean dose of levetiracetam was 31.67 ± 14.83mg/kg/day. Twenty-five of the patients (69.4%) were seizure free with levetiracetam treatment. Electroencephalography recordings improved in 28 (77.8%) of the patients after levetiracetam. No severe adverse effects were observed. CONCLUSION: Our data suggest that levetiracetam may be a safe and effective treatment for neonatal seizures, which are unresponsive to phenobarbital.
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OBJECTIVE: To determine the factors that affect the functional outcome of Oxford Phase 3 unicompartmental knee arthroplasty (UKA). METHODS: We assessed a total of 52 UKA knees of 49 patients with a minimum follow-up of 2 years (24-72 months). We recorded the results for Range of motion (ROM) and body mass index (BMI) and the presence o patello-femoral arthrosis (PFA). In the radiological evaluation, we measured the posterior tibial slope (PTS), the tibial plateau angle (TPA) and the femorotibial angle, in addition to an assement using the Oxford radiological criteria. Patients were grouped by age, follow-up time, BMI, radiological criteria, PFA presence, occurance of complications and revision surgery. The clinical and functional results of these groups were compared statistically. RESULTS: A total of 40 women and 9 men participated in the study, with an average age of 60 years, and a mean BMI of 34.6. No significant differences were found among the age and PFA groups. Postop VAS scores were high and knee evaluation scores were significantly lower in the morbidly obese group and in the groups with postop TPA <85º and >90º. The revision ratio was 11.5%. CONCLUSION: Postop TPA, PTS and morbid obesity are the most significant factors that can lead to revision surgery. Level of Evidence IV, Case series.
OBJETIVO: Determinar os fatores que afetam o resultado funcional da artroplastia unicompartimental do joelho Oxford Phase 3 (AUJ). MÉTODOS: Foram incluídos 52 joelhos AUJ de 49 pacientes com um período mínimo de 2 anos (24-72 meses) de acompanhamento. Foram registrados: amplitude de movimento (ADM), índice de massa corporal (IMC) e presença de artrose femoropatelar (AFP). Na avaliação radiológica, medimos o declive tibial posterior (DTP), o ângulo do planalto tibial (APT) e o ângulo femorotibial, além de usarmos os critérios radiológicos de Oxford. Os pacientes foram agrupados de por idade, tempo de acompanhamento, IMC, critérios radiológicos, presença de AFP e ocorrência de complicações e cirurgias de revisão. Os resultados clínicos e funcionais desses grupos foram comparados estatisticamente. RESULTADOS: Participaram do estudo 40 pacientes do gênero feminino e 9 do gênero masculino, com idade média de 60 anos, IMC de 34,6. Não foram encontradas diferenças significativas entre os grupos formados por idade e presença de AFP. As marcações da EVA pós-operatória foram altas e as marcações do joelho foram significativamente baixas no grupo com obesidade mórbida e nos grupos com APT pós-operatória <85º e >90º. A taxa de revisão foi de 11,5%. CONCLUSÃO: APT e DTP pós-operatório e obesidade mórbida são os fatores mais significativos que podem levar à cirurgia de revisão. Nível de Evidência IV, Série de casos.
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BACKGROUND: The aim of this study was to investigate the effect of reduction loss of more than 3 mm on clinical and radiological results after at least 2 years of follow-up after arthroscopic fixation of acute acromioclavicular joint dislocations using a double-button device. METHODS: Thirty-six patients who had acute (< 3 weeks old), type III or V acromioclavicular (AC) joint dislocations underwent arthroscopic fixation of the AC joint using a double-button device. Clinical and radiological evaluations were performed at preoperative, postoperative first day, 3 months and last follow-up. When the coracoclavicular (CC) distances of patients at the last follow-up were compared to the early postop CC distances, those with a difference of 3 mm or less were grouped as group A and those with a difference of more than 3 mm were grouped as group B. RESULTS: There was no statistically significant difference between the groups in terms of age, gender, follow-up time, time from injury to surgery, return to work, and distribution of Rockwood classification. Pre-operative CC distance was reduced from 18.7 ± 3.5 to 8.5 ± 0.6 in the early postoperative period. Anatomic reduction was achieved in all patients compared with the unaffected side (CC distance 8.6 ± 0.7). However, the CC distance increased to 9.9 ± 1.5 at the third-month follow-up and increased to 11 ± 2.7 at the last follow-up. There were no significant Constant score differences between the groups in the preoperative and last follow-up periods (p > 0.05). At the last follow-up, the mean Acromioclavicular Joint Instability (ACJI) score of group A was 84.4 ± 8, whereas it was 68.3 ± 8.3 for group B, and the difference was statistically significant (p < 0.01). Furthermore, the subjective evaluation and aesthetic subjective satisfaction values of group B were lower than group A (p < 0.01). CONCLUSIONS: Reduction loss of more than 3 mm was observed in 25% of patients after arthroscopic fixation of acute acromioclavicular dislocations using a double-button device. Although this loss did not create a statistically significant difference in Constant scores, AC joint-specific tests such as ACJI, subjective evaluation, and aesthetic subjective satisfaction values were significantly impaired.
Subject(s)
Acromioclavicular Joint/diagnostic imaging , Acromioclavicular Joint/surgery , Arthroscopy/trends , Joint Dislocations/diagnostic imaging , Joint Dislocations/surgery , Postoperative Complications/diagnostic imaging , Acromioclavicular Joint/injuries , Adult , Arthroscopy/adverse effects , Female , Follow-Up Studies , Humans , Male , Middle Aged , Postoperative Complications/etiology , Retrospective Studies , Treatment Outcome , Young AdultABSTRACT
OBJECTIVE: The aim of this study was to evaluate the radiologic outcomes and complication analysis of posterior vertebral column resection (PVCR) performed on previously operated patients with severe kyphoscoliosis (SK). METHODS: Twelve patients (6 men and 6 women) with SK underwent PVCR. The mean age of the patients preoperatively was 16 years (range, 10-26 years). The mean follow-up period was 5.3 years (range, 2-7 years). Previous surgeries included posterior growth arrest in 3 patients, hemivertebrectomy in 4 patients, and posterior fusion in 5 patients. The sagittal plane parameters and coronal parameters were measured in the preoperative, in the early postoperative, and during the last follow-up stages. Complications were also noted. RESULTS: The mean thoracic scoliosis Cobb angle was 76.8° (range, 35°-142°) preoperatively, 37.8° (range, 5°-80°) early postoperatively, and 41.5° (range, 11°-80°) during the last follow-up (P < 0.0001). The mean thoracic kyphosis angle was 84.7° (range, 23°-132°) preoperatively, 50.3° (range, 25°-78°) early postoperatively, and 48.5° (range, 25°-80°) during the last follow-up (P = 0.0032). Complications occurred in 5 patients (41.7%); a hemothorax in 1 patient, rod fracture in 3 patients, and permanent neurologic deficit in 1 patient. Temporary loss of neuromonitoring motor evoked potentials developed in 2 patients during deformity correction. CONCLUSIONS: PVCR provides effective correction in patients with SK. However, expected surgical correction of a deformity may not always be achieved because of intraoperative neuromonitoring changes. Furthermore, PVCR can lead to a large number of major complications in patients with SK who have undergone previous spinal surgery.
Subject(s)
Kyphosis/diagnostic imaging , Kyphosis/surgery , Neurosurgical Procedures/adverse effects , Neurosurgical Procedures/methods , Scoliosis/diagnostic imaging , Scoliosis/surgery , Spine/diagnostic imaging , Spine/surgery , Adolescent , Child , Female , Follow-Up Studies , Humans , Male , Operative Time , Orthopedic Procedures , Postoperative Complications/epidemiology , Retrospective Studies , Spinal Fusion , Treatment Outcome , Young AdultABSTRACT
OBJECTIVE: This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. METHODS: Whole-exome sequencing and bioinformatic analysis of consanguineous families with children affected by early-onset, neurogenetic disorders was performed using the RD-Connect Genome-Phenome Analysis Platform. We also performed clinical, EEG, and neuroimaging analyses in unaffected siblings and parents. RESULTS: We have identified a homozygous missense mutation in COL4A1 (p.Gly1278Ser, NM_001845.5:c.3832G>T) in 2 siblings affected by small vessel brain disease with periventricular leukoencephalopathy and ocular defects. Presenting symptoms included mild weakness, hemiparetic gait, pyramidal findings, and seizures, whereas their intellectual and behavioral functions were normal. Both parents and 5 of the siblings (3 boys and 2 girls) were heterozygous for the variant. They did not show any clinical or laboratory signs of small vessel disease. CONCLUSIONS: COL4A1 has previously been associated with dominant small vessel disease of the brain and other organs, manifesting with high penetrance in heterozygous mutation carriers. Our findings provide evidence that COL4A1-related encephalopathy can be inherited in an autosomal recessive manner, which is important for counseling, prognosis, and treatment. Genotype-phenotype correlations remain to be established.
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PURPOSE: The aim of this study is to determine the prevalence of pathologic findings in asymptomatic knees of Kangoo Jumpers by using a 3T MRI and to compare them with age and sex-matched controls who do not regularly participate in any impact sports. METHODS: Both knees of 18 Kangoo Jumpers were examined by 3T MRIs in a total of 36 MRI scans. The control group was comprised of 20 volunteers from the same age group and with similar weights who did not participate in any competitive sports, in a total of 40 MRI scans. Two orthopedists and one radiologist independently assessed all images for the presence or absence of any abnormalities. RESULTS: In 32 (88.9%) of the 36 Kangoo Jumpers' knees, one or more abnormalities were observed. The most prevalent abnormality was bone marrow edema, which was detected in 32 knees (88.9%). The other significant findings were quadriceps tendinopathy (80.6%), patellar tendinopathy (63.9%), gastrocnemius tendinopathy (63.9%), infrapatellar fat pad edema (75%), suprapatellar fat pad edema (63.9%), meniscal signal change (72.2%) and cartilage damage in the patellofemoral joint (72.2%). There were no statistically significant differences in terms of joint effusion (8.3%), ganglion cysts (8.3%) or tibiofemoral joint cartilage injury (0%). CONCLUSION: This study reveals many types of knee MRI findings of asymptomatic Kangoo Jumpers compared to the control group. These MRI findings may be associated with acute knee injuries or chronic joint problems such as osteoarthritis, which may develop in long-term follow-up studies.
Subject(s)
Asymptomatic Diseases , Athletes , Healthy Volunteers , Knee Injuries/diagnostic imaging , Knee Injuries/physiopathology , Magnetic Resonance Imaging/methods , Adult , Age Factors , Female , Humans , Male , Sex Factors , TurkeyABSTRACT
Knee arthroscopy may be called the most commonly and increasingly performed orthopaedic procedure. Posterior medial compartment visualization may be quite challenging. The aim of the present study is to detect objective measurement of medial joint space widening with percutaneous "pie crust" release of medial collateral ligament (MCL) during knee arthroscopy. We used this technique for all knees that require any intervention in the posteromedial compartment and for tight knees in which adequate visualization of the posteromedial compartment cannot be obtained. Eighteen patients (18 knees) were included in this study. Patients were evaluated clinically with the Lysholm and Tegner scores at the final office visit. Joint balance, valgus instability, pain or tenderness on MCL region, and numbness over the medial side of the joint were also noted. Measurements of medial joint space (mm) were obtained at three different times with perioperative C-arm images: normal, controlled valgus force, and after pie crusting. The median follow-up time was 9 (6-12) months. Final follow-up Lysholm (p < 0.05) and Tegner scores (p < 0.05) increased significantly compared with preoperative scores. At the final follow-up, there was no pain or tenderness over MCL and there were no signs of saphenous nerve or vein injury. Medial joint space values in after pie crusting increased significantly (p < 0.05) compared with neutral position measurements and controlled valgus force application (p < 0.05). Controlled release of the MCL in knees provided â¼2.45 times wider visualization place. Furthermore, pie crusting of MCL is a safe and effective technique that provides enough space for visualization and instrumentation in knees. This is a Level IV study.
Subject(s)
Arthroscopy/methods , Knee Joint/surgery , Medial Collateral Ligament, Knee/surgery , Menisci, Tibial/surgery , Tibial Meniscus Injuries/surgery , Adult , Female , Fluoroscopy , Humans , Male , Middle Aged , Prospective Studies , Young AdultABSTRACT
OBJECTIVE: This study aimed to compare the clinical results and complications as well as patient satisfaction in patients with carpal tunnel syndrome operated with open carpal tunnel release (OCTR) or endoscopic carpal tunnel release (ECTR) techniques. METHODS: This study conducted in Istanbul Training and Research Hospital between August 2016 and January 2018. A total of 54 patients were operated with the ECTR technique and 50 patients were operated with the OCTR technique after failing nonsurgical treatment. Patients functional scores are assessed with the carpal tunnel syndrome-functional status score (CTS-FSS) and carpal tunnel syndrome-symptom severity score (CTS-SSS). Operation time, incision length and complications of the two techniques were noted and compared. RESULTS: The age, sex distribution, distribution of sides, and complaint period were not significant (p > 0.05) between the groups. The preoperative or postoperative CTS-SSS and CTS-FSS values did not differ significantly (p > 0.05). Incision length, time to return to work and return to daily life in the OCTR group was significantly higher than the ECTR group (p < 0.05). CONCLUSION: ECTR has similar results in terms of symptom relief, severity, functional status, pillar pain and complication rates compared to OCTR. However, it has the advantages of early return to daily life, early return to work and less incision length.
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Medial talonavicular dislocation associated with cuboid fracture is rare. We report an 18-year-old man with this injury who exhibited excellent results after open reduction and stabilization of the joint with temporary Kirshner wires.