Internal tibial torsion is associated with medial meniscus posterior horn tears.

PURPOSE: Risk factors for meniscal tears play a decisive role in deciding on treatment and rehabilitation. The purpose of this study was to investigate the effect of tibial rotation on medial meniscus posterior horn tears (MMPHTs). METHODS: This study is a retrospective case-control study. Fifty patients with meniscal tears and 57 knees with intact meniscus were compared. Tibial rotation, femoral version, tibial slope and knee varus were measured in each participant. Knee osteoarthritis was classified according to the Kellgren-Lawrence classification. Demographic characteristics were noted. RESULTS: There were significant differences in the mean tibial torsion angles and mean mechanical axes between the groups. The mean tibial rotation and mean mechanical axis were 26.3° ± 6.7 and 3.7° ± 2.7 in the MMPHT group and 30.3° ± 8.4 and 2.05° ± 2.7 in the control group, respectively (p = 0.008, p = 0.002). CONCLUSION: The current retrospective study has shown that tibial rotation is markedly reduced in patients with MMPHTs. Although the actual mechanism is not clear, the internal torsion of the tibia causes a decrease in the foot progression angle and increases the knee adduction moment, which in turn increases the medial tibial contact pressure. Internal torsion of the tibia, such as knee varus, may play a role in the aetiology of MMPHTs by this way. Whilst there was a significant difference in the mean varus and tibial torsion between the groups, there was no significant difference in the mean femoral version or tibial slope. LEVEL OF EVIDENCE: III.

EFFECT OF TRANEXAMIC ACID ON FRACTURE HEALING IN RATS.

Introduction: In this study we investigated the effect of tranexamic acid (TXA) on fracture healing in an established animal model, when used to stop bleeding in orthopedic trauma surgery. Materials and Methods: This study was a randomized, controlled, laboratory study. Eighteen Sprague-Dawley rats were randomly assigned to three groups, either receiving TXA intravenously (Group 1), TXA topically (Group 2), or isotonic TXA intravenously and TXA topically in the same amounts for the control group (Group 3). First, a Kirschner wire was inserted retrogradely into the femoral intramedullary canal. Then the femurs were fractured at the midshaft region with blunt guillotine. After 4 weeks, the rats were sacrified and the femurs harvested. Cortical bone volume, callus volume, and bone mineral density were calculated using computer tomography scans. Torsion tests were performed. Groups were compared by maximum torque to failure and callus stiffness. Results: There were no statistical differences in torque to failure and stiffness between the 3 groups. There were no differences in mean total bone volume, callus volume, percent bone volume, or callus density between the groups. Conclusions: A single dose of topical or intravenous TXA has no negative effect on fracture healing when used in traumatic femur fracture surgery in an animal model. Evidence level II; Randomized controlled experimental study.

Introdução: Neste estudo, investigamos o efeito do ácido tranexâmico (TXA) sobre a consolidação de fraturas em um modelo animal estabelecido, quando é usado para estancar o sangramento em cirurgias de trauma ortopédico. Materiais e Métodos: Trata-se de estudo de laboratório randomizado e controlado. Dezoito ratos Sprague-Dawley foram atribuídos randomicamente em três grupos, que receberam TXA por via intravenosa (Grupo 1), TXA tópico (Grupo 2) ou isotônico por via intravenosa e tópico na mesma quantidade como grupo controle (Grupo 3). Primeiro, foi inserido um fio de Kirschner por via retrógrada no canal intramedular femoral. Em seguida, o fêmur dos animais foi fraturado na região média do corpo do fêmur com guilhotina romba. Depois de quatro semanas, os ratos foram sacrificados e os fêmures foram retirados. O volume do osso cortical, o volume do calo e a densidade mineral óssea foram calculados por meio de tomografia computadorizada e foram realizados testes de torção. Os grupos foram comparados de acordo com o torque máximo até a falha e a rigidez do calo. Resultados: Não houve diferença estatística no torque até a falha e rigidez entre os três grupos nem diferenças entre os grupos quanto ao volume médio total do osso, volume e densidade do calo e percentual de volume ósseo. Conclusões: Uma dose única de TXA tópico ou intravenoso não tem efeito negativo sobre a consolidação da fratura quando usada em cirurgia de fratura traumática de fêmur em modelo animal. Nível de evidência II; Estudo experimental controlado randomizado.

Acromion-axillary nerve distance and its relation to the arm length in the prediction of the axillary nerve position: a clinical study.

BACKGROUND: Because of the broad anatomic variation in the course of the axillary nerve, several cadaveric studies have investigated the acromion-axillary nerve distance and its association with the humeral length to predict the axillary nerve location. This study aimed to analyze the acromion-axillary nerve distance (AAND) and its relation to the arm length (AL) in patients who underwent internal plate fixation for proximal humerus fractures. METHODS: The present prospective study involved 37 patients (15 female, 22 male; the mean age = 51 years, age range 19-76) with displaced proximal humerus fractures treated by open reduction and internal fixation. After anatomic reduction and fixation were achieved, the following parameters were measured in each patient before wound closure without making an extra incision or dissection: (1) the distance from the anterolateral edge of the acromion to the course of the axillary nerve was recorded as the acromion-axillary nerve distance and (2) the distance from the anterolateral edge of the acromion to the lateral epicondyle of the humerus was recorded as arm length. The ratio of AAND to AL was then calculated and recorded as the axillary nerve index (ANI). RESULTS: The mean AAND was 6 ± 0.36 cm (range 5.5-6.6), and the mean arm length was 32.91 ± 2.9 cm (range 24-38). The mean axillary nerve ratio was 0.18 ± 0.02 (range 0.16 to 0.23). There was a significant moderate positive correlation between AL and AAND (p = 0.006; r = 0.447). The axillary nerve location was predictable in only 18% of the patients. CONCLUSION: During the anterolateral deltoid-splitting approach to the shoulder joint, 5.5 cm from the anterolateral edge of the acromion could be considered a safe zone to prevent possible axillary nerve injury.

Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.

Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA) is an autosomal recessive multisystem disorder caused by compound heterozygous or homozygous variants in the gene OTUD6B. Herein, we describe novel pathogenic compound heterozygous variants in OTUD6B identified via whole-exome sequencing in an index case exhibited the severe IDDFSDA phenotype. The potential pathogenicity of the novel frameshift and missense variants in the index case was investigated using in silico tools. The truncating frameshift variant in one allele was predicted to undergo degradation via nonsense-mediated decay of the mRNA molecule. To predict the severity of the damage to the protein caused by the missense variant in the other allele and its effects on phenotypic severity was further investigated together with a previously reported first homozygous missense variant in the same domain in another patient with a less severe IDDFSDA phenotype using structural modeling and molecular dynamics (MD) simulations for the first time. Based on these analyzes, it is anticipated that Tyr216Cys in the earlier reported case with less severe IDDFSDA will lead to localized destabilization, whereas Ile274Arg in the presented index case with the severe IDDFSDA phenotype will lead to significant distortion in the overall fold of OTUD6B. Our findings suggest that compound LOF and ultrarare missense variants may be contribute to the underlying variability expressivity associated with this disorder. In conclusion, our findings support that the clinical severity could be related with the predicted functional severity of the variations in OTUD6B. However, additional functional studies are required.

The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy.

PURPOSE: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers. MATERIALS AND METHODS: A detailed survey of several items on eight main topics (general characteristics, motor function, comorbidities, therapies, anthropometry, feeding mode and problems and perceived nutritional status) was developed and tested for the study. Correlation between nutritional status and Gross Motor Function Classification System (GMFCS) levels was assessed using continuous variables (Z-scores for weight-for-age, height-for-age, weight-for-height, and body mass index-for-age), and categorical variables (being malnourished, stunted, or wasted). HCP and caregiver perceptions of the child's nutritional status as well as agreement between perceived and objective nutritional status and agreement between perceived nutritional status and concerns about the nutritional status were analyzed. RESULTS: Data were available for 497 participants from eight European countries. Poorer nutritional status was associated with higher (more severe) GMFCS levels. There was minimal agreement between perceived and objective nutritional status, both for HCPs and caregivers. Agreement between HCP and caregiver perceptions of the child's nutritional status was weak (weighted kappa 0.56). However, the concerns about the nutritional status of the child were in line with the perceived nutritional status. CONCLUSIONS: The risk of poor nutritional status is associated with more severe disability in children and adolescents with CP. There is a mismatch between HCP and caregiver perceptions of participants' nutritional status as well as between subjective and objective nutritional status. Our data warrant the use of a simple and objective screening tool in daily practice to determine nutritional status in children and adolescents with CP. Clinical trial registration: ClinicalTrials.gov Identifier: NCT03499288 (https://clinicaltrials.gov/ct2/show/NCT03499288). IMPLICATIONS FOR REHABILITATIONUse of the ESPGHAN recommendations and simple screening tools in daily practice is needed to improve nutritional care for individuals with CP.Attention should be paid to the differences in the perception of nutritional status of individuals with CP between professionals and caregivers to improve appropriate referral for nutritional support.Objective measures rather than the professional's perception need to be used to define the nutritional status of individuals with CP.

Effect of tranexamic acid on fracture healing in rats / Efeito do ácido tranexâmico na cura de fratura em ratos

ABSTRACT Introduction In this study we investigated the effect of tranexamic acid (TXA) on fracture healing in an established animal model, when used to stop bleeding in orthopedic trauma surgery. Materials and Methods This study was a randomized, controlled, laboratory study. Eighteen Sprague-Dawley rats were randomly assigned to three groups, either receiving TXA intravenously (Group 1), TXA topically (Group 2), or isotonic TXA intravenously and TXA topically in the same amounts for the control group (Group 3). First, a Kirschner wire was inserted retrogradely into the femoral intramedullary canal. Then the femurs were fractured at the midshaft region with blunt guillotine. After 4 weeks, the rats were sacrified and the femurs harvested. Cortical bone volume, callus volume, and bone mineral density were calculated using computer tomography scans. Torsion tests were performed. Groups were compared by maximum torque to failure and callus stiffness. Results There were no statistical differences in torque to failure and stiffness between the 3 groups. There were no differences in mean total bone volume, callus volume, percent bone volume, or callus density between the groups. Conclusions A single dose of topical or intravenous TXA has no negative effect on fracture healing when used in traumatic femur fracture surgery in an animal model. Evidence level II; Randomized controlled experimental study.

RESUMO Introdução Neste estudo, investigamos o efeito do ácido tranexâmico (TXA) sobre a consolidação de fraturas em um modelo animal estabelecido, quando é usado para estancar o sangramento em cirurgias de trauma ortopédico. Materiais e Métodos Trata-se de estudo de laboratório randomizado e controlado. Dezoito ratos Sprague-Dawley foram atribuídos randomicamente em três grupos, que receberam TXA por via intravenosa (Grupo 1), TXA tópico (Grupo 2) ou isotônico por via intravenosa e tópico na mesma quantidade como grupo controle (Grupo 3). Primeiro, foi inserido um fio de Kirschner por via retrógrada no canal intramedular femoral. Em seguida, o fêmur dos animais foi fraturado na região média do corpo do fêmur com guilhotina romba. Depois de quatro semanas, os ratos foram sacrificados e os fêmures foram retirados. O volume do osso cortical, o volume do calo e a densidade mineral óssea foram calculados por meio de tomografia computadorizada e foram realizados testes de torção. Os grupos foram comparados de acordo com o torque máximo até a falha e a rigidez do calo. Resultados Não houve diferença estatística no torque até a falha e rigidez entre os três grupos nem diferenças entre os grupos quanto ao volume médio total do osso, volume e densidade do calo e percentual de volume ósseo. Conclusões Uma dose única de TXA tópico ou intravenoso não tem efeito negativo sobre a consolidação da fratura quando usada em cirurgia de fratura traumática de fêmur em modelo animal. Nível de evidência II; Estudo experimental controlado randomizado.

OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical development.

Homozygous OCLN variants have been reported in patients with band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) which is characterized by microcephaly, intracranial calcification and severe developmental delay. The OCLN gene encodes the integral membrane protein, occludin. Herein, we report three additional cases with homozygous OCLN variants that were identified via Trio-WES in two consanguineous unrelated families. We detected a previously reported frameshift variant in two cases in Family 1 and a novel missense variant in a case in Family 2. The potential pathogenicity of both variants in the index cases was investigated using in silico tools, and both variants were determined to be rare and predicted to be pathogenic. All of the presented cases exhibited clinical features in common with earlier reported patients, such as severe intellectual disability, microcephaly, polymicrogyria, epilepsy, hypotonia and severe developmental delay. On the other hand, in addition to the common phenotypic features, our two cases in Family 1 showed features similar to those previously reported in cases from two Turkish families carrying the same frameshift variant, such as renal failure. We herein expand the spectrum of OCLN gene variants with a description of an additional novel homozygous missense variant. The frameshift variant in Turkish cases may thus be a phenotype associated with renal failure in addition to the core phenotype associated with other OCLN gene variants, and such variants could be important for rapid molecular diagnosis and treatment. The frameshift variant in Turkish cases might also be investigated for both a potential founder effect and mutational hot spot.

Comparison of the efficacy of irrigation with epinephrine or tranexamic acid on visual clarity during arthroscopic rotator cuff repair: A double-blind, randomized-controlled study.

OBJECTIVES: This study aims to investigate whether there was a difference between epinephrine (EPN) and tranexamic acid (TXA) in providing visual clarity during arthroscopic rotator cuff tear repair. PATIENTS AND METHODS: This double-blind, prospective, randomized-controlled clinical study included a total of 90 patients (42 males, 48 females; mean age: 55.6±8.3 years; range, 18 to 69 years) in whom either EPN (EPN group, n=47) or TXA-diluted irrigation solutions (TXA group, n=43) were used during rotator cuff tear arthroscopy between December 2017 and November 2019. Arthroscopy was performed using irrigation fluid containing 0.33 mg of EPN per 1 L of saline in the EPN group and 0.42 mg of TXA per 1 L of saline in the TXA group. All procedures were performed by two specialized shoulder surgeons. Visual clarity (primary endpoint) was rated by the operating surgeon using the Visual Analog Scale (VAS) in the immediate postoperative period. Secondary endpoints included total operating time (TOT), potential thrombotic or thromboembolic side effects, mean arterial pressure (MAP), and total amount of irrigation fluid used. RESULTS: There was no significant difference in the surgeon rated- VAS scores between the groups. The mean VAS score was 7.6±1.62 (range, 4 to 10) in the EPN group and 7.1±1.74 (range, 3 to 10) in the TXA group (p=0.59). No cardiac, thrombotic, or thromboembolic complications were observed in any of the groups. CONCLUSION: Adding TXA to the irrigation fluid during the arthroscopic rotator cuff repair may provide similar visual quality to the EPN, as measured by VAS.

Acute flaccid myelitis outbreak through 2016-2018: A multicenter experience from Turkey.

AIM: We aim to describe the demographic characteristics, etiology, neurophysiology, imaging findings, treatment, prognosis, and prognostic factors of acute flaccid myelitis. METHODS: The clinical data, laboratory test and, magnetic resonance imaging (MRI) results of pediatric patients diagnosed with acute flaccid myelitis according to the Centers for Disease Control criteria between August 1, 2016, and December 31, 2018, from 13 centers in Turkey were reviewed. RESULTS: Of the 34 cases identified, 31 were confirmed (91.2%). Eighteen patients (55.9%) were boys. The median patient age was 4 years (interquartile range 2.5-6.9 years). Most of the patients were admitted in 2018 (n = 27). A preceding history of a febrile illness was reported in all patients, with a median of 4 days (interquartile range 3-7 days) before symptom onset. Thirty-one patients had T2 hyperintensity on spinal MRI, and 18 patients had cerebrospinal fluid pleocytosis. The most common infectious agents were entero/rhinoviruses (n = 5) in respiratory specimens. All patients except one received immunotherapy either alone or in combination. Among 27 patients with follow-up data 24 had persistent weakness. Involvement of four limbs together with an abnormal brain MRI at onset were associated with a poor prognosis. CONCLUSION: The number of patients with acute flaccid myelitis increased since 2012, spiking with every 2-year interval, largely in the pediatric population. The median age decreases with every outbreak. Clinicians should be aware of the clinical picture for early collection of specimens and early start of rehabilitation programs. Further studies are needed to better characterize the etiology, pathogenesis, risk factors, and treatment of this rare condition.

Risk Factors of Post-Stroke Epilepsy in Children; Experience from a Tertiary Center and a Brief Review of the Literature.

OBJECTIVES: Acute seizures and post-stroke epilepsy have been reported more frequently in patients with pediatric stroke than adults. Acute seizures in the first days of a stroke may deteriorate stroke and ischemia-related neurodegeneration and contribute to the development of post-stroke epilepsy. In this study, we aimed to investigate risk factors for the development of post-stroke epilepsy in children with arterial ischemic stroke. MATERIALS AND METHODS: We recruited 86 children with arterial ischemic stroke. We analyzed variables, including age at admission, gender, complaints at presentation, focal or diffuse neurologic signs, neurologic examination findings, laboratory investigations that were conducted at admission with stroke (complete blood cell count, biochemical-infectious-metabolic-immunological investigations, vitamin B12 levels, vitamin D levels), neuroimaging results, etiologies, time of the first seizure, time of remote seizures, and development of neurologic deficit retrospectively. Seizures during the first six hours after stroke onset were defined as 'very early seizures'. 'Early seizures' were referred to seizures during the first 48 h. Patients who experienced two or more seizures that occurred after the acute phase of seizures were classified as 'epileptic.' A binary logistic regression analysis was used to estimate risk factors. RESULTS: An acute seizure was detected in 59% and post-stroke epilepsy developed in 41% of our cohort. Binary logistic regression analysis demonstrated that 'very early seizures' increased epilepsy risk six-fold. Epilepsy was 16 times higher in patients with 'early seizures'. Low vitamin D levels were defined as a risk factor for post-stroke epilepsy. CONCLUSION: Seizures in the very early period (within the first six hours) are the most significant risk factors for the development of post-stroke epilepsy Further studies regarding seizure prevention and neuroprotective therapies are needed because post-stroke epilepsy will affect long term prognosis in patients with pediatric stroke.

Neuroprotective Effects of Lacosamide and Memantine on Hyperoxic Brain Injury in Rats.

In neonates supraphysiological oxygen therapy has been demonstrated to cause neuronal death in hippocampus, prefrontal cortex, parietal cortex, and retrosplenial cortex. There is a need for the detection of novel neuroprotective drugs. Neuroprotective effects of lacosamide or memantine have been demonstrated in adult patients with ischemia, trauma and status epilepticus. The effects in immature brains may be different. This study aimed to evaluate neuroprotective effects of lacosamide and memantine treatment in a hyperoxia-induced brain injury model in immature rats. This study was performed in the Animal Experiments Laboratory of Dokuz Eylul University Faculty of Medicine. Neonatal Wistar strain rat pups were exposed to hyperoxia (80% oxygen + 20% nitrogen) for five days postnatally. They were divided into five groups; hyperoxia + lacosamide, hyperoxia + memantine, hyperoxia + lacosamide and memantine, hyperoxia + saline, control groups. After termination of the experiment, brain tissues were examined. Neuron counting in examined regions were found to be higher in hyperoxia + memantine and hyperoxia + lacosamide and memantine groups than hyperoxia + saline group. The presence of apoptotic cells evaluated with TUNEL and active Caspase-3 in hyperoxia + memantine and hyperoxia + lacosamide and memantine groups were found to be lower compared to hyperoxia + saline group. This study demonstrates that neuron death and apoptosis in newborn rat brains after hyperoxia is reduced upon memantine treatment. This is the first study to show the effects of memantine and lacosamide on hyperoxia-induced damage in neonatal rat brains.

Rotavirus encephalopathy with concomitant acute cerebellitis: report of a case and review of the literature.

Rotavirus is a leading cause of gastroenteritis in children under 5 years of age. It is known that neurological manifestations like seizures, encephalopathy and encephalitis can rarely be seen due to rotavirus infections. Cerebellar involvement is extremely rare. We present an uncommon neurological manifestation of rotavirus infection in a 4-year-old Turkish child who presented with hypotonia, reduced consciousness and mutism. Magnetic resonance imaging revealed diffusion abnormalities in the splenium of corpus callosum and nucleus dentatus bilaterally. She was diagnosed with rotavirus cerebellitis. She improved well with dexamethasone and intravenous immunoglobulin but still has dysarthria and poor fine motor coordination.

Herpes simplex virus-1 as a rare etiology of isolated acute cerebellitis: case report and literature review.

Acute cerebellitis is one of the most common cerebellar disorders and occurs due to para-infectious, post-infectious, or post-vaccination cerebellar inflammation. Herpes simplex virus-1 (HSV-1) is known as a common infectious cause of sporadic encephalitis. Cerebellar involvement of HSV-1 is rare and almost always associated with meningoencephalitis. To date, HSV-1 has been identified as the cause of acute isolated cerebellitis in only two patients. Here we report another case of isolated acute cerebellitis caused by HSV-1 in a 20-month-old boy.

Changes of primary headache related white matter lesions in pediatric patients.

Bayram E, Yis U, Paketçi C, Okur D, Polat I, Çakmakci H, Hiz S, Anlar B. Changes of primary headache related white matter lesions in pediatric patients. Turk J Pediatr 2018; 60: 380-384. We aimed to describe the long-term prognosis of white matter lesions detected on magnetic resonance imaging in children with primary headache. Children who were admitted with the complaint of headache and had nonspecific white matter lesions on magnetic resonance imaging were included in the study. The clinical findings of the patients were reinvestigated using the same magnetic resonance imaging scanner and acquisition protocol after at least a two year period. Magnetic resonance imaging results of the patients were documented in detail. Findings of the baseline and follow-up studies were compared with each other by the same radiologist. Among the 11 patients, 8 ( 72.7%) were male and 3 (27.3%) were female. Mean age of patients at the time of second imaging was 12.9±2.3 years. Eight (72.7%) had migraine without aura, 1 (9.1%) had tension-type headache and 2 (18.2%) had migraine with aura. The mean clinical follow-up period of the patients was 4.31±1.31 years. All patients had low headache frequency on the last control visit when compared to the first clinical findings. The follow-up magnetic resonance imaging studies showed two newly developed white matter lesions in two patients who had migraine without aura and the white matter lesions disappeared in the patient who had tension-type headache, compared to the baseline neuroimaging. Findings of the baseline and long-term follow-up magnetic resonance imaging studies of the patients with primary headache showed no significant changes in terms of the location, size and laterality. Repeated neuro-imaging studies are not warranted in the absence of the progression in clinical findings.

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases. About half of the patients were diagnosed with whole exome or targeted gene sequencing. A positive correlation between muscle biopsy and genetic findings were observed in 11% of the patients. We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders.

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.

Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, the authors report on cases with genetically proven congenital myasthenic syndromes from Turkey. The authors retrospectively reviewed their experience of all patients with congenital myasthenic syndromes, referred over a 5-year period (2011-2016) to the Child Neurology Department of Dokuz Eylül University, Izmir, Turkey. In addition, PubMed was searched for published cases of genetically proven congenital myasthenic syndromes originating from Turkey. In total, the authors identified 43 (8 new patients, 35 recently published patients) cases. Defects in the acetylcholine receptor (n = 15; 35%) were the most common type, followed by synaptic basal-lamina associated (n = 14; 33%) and presynaptic syndromes (n = 10; 23%). The authors had only 3 cases (7%) who had defects in endplate development. One patient had mutation GFPT1 gene (n = 1; 2%). Knowledge on congenital myasthenic syndromes and related genes in Turkey will lead to prompt diagnosis and treatment of these rare neuromuscular disorders.

Short-term Results of Robinson Type 2B2 Clavicular Fractures Treated Conservatively or Surgically.

The most frequently treated injuries, representing approximately 82% of all clavicular fractures, involve the midshaft clavicle. Historically, most acute displaced midshaft clavicular fractures were treated nonsurgically. However, the outcomes of nonsurgical treatment have recently been thought to be not as good as expected in the past, and the trend is to treat these fractures surgically. The goal of this study was to evaluate the short-term clinical outcomes of Robinson type 2B2 clavicular fractures treated conservatively vs with locked plate fixation. Among 59 patients included in the study, 30 patients (mean age, 45±13.7 years; range, 30-62 years) treated conservatively were designated as group A, and 29 patients (mean age, 38.8±11.1 years; range, 20-60 years) treated with locked plate fixation were designated as group B. All patients were evaluated using Oxford and Constant scoring systems at final follow-up. Mean follow-up was 18 months (range, 12-24 months). In group A, mean Constant score was 70.5±15.1 (range, 98-43) and mean Oxford score was 46.6±1.3 (range, 49-44) at final follow-up. In group B, mean Constant score was 89.2±8 (range, 100-77) and mean Oxford score was 46.5±1.2 (range, 48-44) at final follow-up. Callus was detected radiographically in both groups at 6-week follow-up. Patients in groups A and B started active range-of-motion exercises at weeks 6 and 3 after treatment, respectively. Locked plate fixation of Robinson type 2B2 clavicular fractures can be the first treatment option because of good clinical results, low complication rates, and good cosmesis.

The effect of amputation level and age on outcome: an analysis of 135 amputees.

INTRODUCTION: In this retrospective study, the impact of age, amputation level and the cause of amputation were examined using the Hospital Anxiety and Depression Scale (HADS) and Medicare K scores of amputees with unilateral lower-limb amputation. MATERIALS AND METHODS: In total, 135 patients with unilateral transfemoral (TF) or (TT) transtibial amputations were examined. All data were collected using questionnaires that were either self-administered or administered during an interview. The HADS was developed as a self-reporting questionnaire to detect adverse anxiety and depressive status. K code is used to describe the functional abilities of amputees. RESULTS: The mean age at the time of surgery was 52.79 ± 13.08 years. The mean time since amputation was 59.20 ± 24.41 months for TT, and 60.89 ± 22.09 months for TF amputation. The HADS-A scores of the transfemoral amputation group were determined as significantly high compared to those of the transtibial group (p < 0.05). The K index of the group aged 35 years and below was significantly higher than that of the other groups (p 0.002, p 0.001, p < 0.01). CONCLUSION: The data show higher HADS-A scores with traumatic transfemoral amputation. Therefore, adequate psychiatric evaluation and rehabilitation should be applied to all amputees, especially in cases of young, traumatic, transfemoral amputations. LEVEL OF EVIDENCE: Level 3, retrospective comparative cohort study.

Expression patterns of micro-RNAs 146a, 181a, and 155 in subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis is caused by persistent brain infection of mutated virus, showing inflammation, neurodegeneration, and demyelination. Although many factors are emphasized in the pathogenesis of subacute sclerosing panencephalitis, the exact mechanism of neurodegeneration remains unknown. Micro-RNAs are small, noncoding RNAs that regulate gene expression at the posttranscriptional levels. Micro-RNAs are essential for normal immune system development; besides they are also implicated in the pathogenesis of many chronic inflammatory disorders. The aim of this study is to investigate the expression patterns of micro-RNAs 146a, 181a, and 155 in peripheral blood mononuclear cells of patients with subacute sclerosing panencephalitis. We enrolled 39 patients with subacute sclerosing panencephalitis and 41 healthy controls. Quantitative analysis of micro-RNAs 146a, 181a, and 155 were performed using specific stem-loop primers followed by real-time polymerase chain reaction. All of 3 micro-RNAs were upregulated in subacute sclerosing panencephalitis patients. In addition, the level of micro-RNA 155 expression was higher in stage 3 patients. But, micro-RNA 146a and 181a expression levels showed no association or correlation with clinically relevant data. Alteration of peripheral blood mononuclear cell micro-RNAs in subacute sclerosing panencephalitis may shed new light on the pathogenesis of disease and may contribute to the aberrant systemic rise in mRNA levels in subacute sclerosing panencephalitis.