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BACKGROUND: YouTube™ has a great role in providing information, which includes educational videos, to more than 2 billion users, making it the second most popular application in the world. BE-FAST is a modified version of the FAST mnemonic and is used to detect acute ischemic stroke by the patients or their relatives. The purpose of this study is to assess the overall usefulness of the information of YouTube in patients to realize an acute stroke attack. METHODS: YouTube was searched for the following five terms: "stroke", ''stroke diagnosis", "stroke signs", "brain attack" and "what is stroke" in November 2021 and May 2023, separately. Two independent neurology specialists scored each video by using Global Quality Scale (GQS). RESULTS: Among the total of 150 videos, the number that met inclusion criteria was 91 for the November 2021 search and 104 for the May 2023 search. For the 2021 search, in 30 videos (33%), the FAST mnemonic or its contents were noticed, whereas BE-FAST was mentioned in only four videos (4.4%). For the 2023 search, the FAST mnemonic or its contents were noticed in 36 videos (34.6%) and BE-FAST was mentioned in 11 videos (10.6%). Among the 2021 and 2023 searches, the mean GQS values were 3.09 and 2.96 points, 50 (54.8%) vs. 56 (53.8%) videos rated 3.5 points or higher (high quality), respectively. GQS scores of the videos mentioning balance, eyes, face, arms, speech, and time, the basic and advanced information about radiology and treatment, and mentioning FAST, BE-FAST, and TPA were significantly higher. CONCLUSION: We conclude that YouTube is not yet a very useful tool for patients to realize that they may have acute ischemic stroke, though over the years; information available on social media for healthcare information and education has improved.
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Mídias Sociais , Acidente Vascular Cerebral , Gravação em Vídeo , Humanos , Acidente Vascular Cerebral/diagnóstico , Educação de Pacientes como Assunto/métodosRESUMO
Heterotopic ossification (HO), characterized by the formation of ectopic bone, is a benign mass observed in soft tissues. Depending on its location, it can cause symptoms beyond compression, such as mechanical blockage when associated with joints, leading to limitations in joint movements. In the majority of cases, involvement of the hip and elbow joints is common, while HO can sometimes be observed in atypical locations. Trauma, head injury, and spinal cord injuries are well-recognized risk factors for HO development. However, on rare occasions, in non-traumatic cases are identified without any known risk factors. Herein, we present a rare non-traumatic HO case associated with the flexor hallucis longus (FHL) tendon in a 58-year-old female patient. She complained of pain under the first toe of her right foot while wearing shoes for a year, and a mass was detected on the plantar surface of the foot along with limitation of movement in the first metatarsophalangeal joint. Further examinations revealed that the identified mass was a mature HO lesion. Surgical treatment was performed, and during one-year follow-up, the pain subsided, and joint movements returned to normal, resulting in a satisfactory outcome. In conclusion, although many cases of HO are associated with traumatic injuries, it can sometimes be idiopathic, as in our case, and rarely it is accompanied tendon such as FHL in the foot.
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Ossificação Heterotópica , Humanos , Ossificação Heterotópica/cirurgia , Ossificação Heterotópica/patologia , Ossificação Heterotópica/complicações , Ossificação Heterotópica/diagnóstico por imagem , Ossificação Heterotópica/diagnóstico , Feminino , Pessoa de Meia-Idade , Tendões/patologia , Resultado do Tratamento , Articulação Metatarsofalângica/patologia , Articulação Metatarsofalângica/lesões , Articulação Metatarsofalângica/diagnóstico por imagem , Imageamento por Ressonância MagnéticaRESUMO
Air pollution in urban areas poses a serious threat to human health and therefore the studies about the development of low cost and sensitive sensors to monitor the air quality with high spatial and low temporal resolution continue to be an extensive area in literature. In this study, oxime modified poly(4-(1-pyrenyl) styrene) (P(PySt)-NOX) probes were synthesized to use as a sensor to detect NO2 gas in ambient air. The structural characterization results showed that the probe was successfully synthesized. The sensitivity, selectivity, repeatability, and aging tests were performed during the study, and it was observed that P(PySt)-NOX loaded sensor is sensitive to NO2 for concentrations below 100 ppb. The selectivity measurements were performed against O3 and SO2 which are common interfering gases in ambient air, and it was shown that the sensor is selective to NO2. Additionally, according to the aging tests performed in laboratory for 23 days, it was observed that the sensor is stable in this time interval. The studies showed the sensor synthesized and designed in this study is suitable for NO2 concentration measurements in ambient air where the concentration levels of NO2 is below 100 ppb.
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Aplasia Cutis Congenita with Ectrodactyly Skeletal Syndrome (ACCES, OMIM #619959) is an extremely rare multiple congenital anomalies syndrome caused by haploinsufficiency of the UBA2 gene. This syndrome presents with growth retardation, dysmorphic facial features, neurodevelopmental delay, skeletal problems including ectrodactyly, developmental dysplasia of the hip (DDH) and scoliosis, skin findings such as aplasia cutis, and some internal organ abnormalities. Our 13-year-old female patient and her 38-year-old father had a skeletal dysplasia phenotype with disproportionate short stature, bilateral DDH, mild epiphyseal involvement, scoliosis, and increased lumbar lordosis. Both were neurodevelopmentally normal and had mild dysmorphic facial features and mild ectodermal findings. The dominant inheritance pattern in the pedigree suggested a pre-diagnosis of spondyloepiphyseal dysplasia tarda. The exome sequencing analysis of the patient has identified a novel heterozygous variant, NM_005499.2:c.460-2A >G, in the UBA2 gene, and the father was found heterozygous either. The isolated spondyloepiphyseal involvement of our patients was an unusual presentation compared to patients with ACCES syndrome previously reported in the literature. Considering the highly variable expressiveness of ACCES syndrome and the co-occurrence of familial hip dysplasia and vertebral problems, we suggest that this syndrome can also be classified under "Spondyloepi(meta)physial dysplasia (SE(M)D)" in the nosology of genetic skeletal disorders.
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Monoamine oxidase inhibitors (MAOIs) have been crucial in the search for anti-neurodegenerative medications and continued to be a vital source of molecular and mechanistic diversity. Therefore, the search for selective MAOIs is one of the main areas of current drug development. To increase the effectiveness and safety of treating Parkinson's disease, new scaffolds for reversible MAO-B inhibitors are being developed. A total of 24 pyridazinobenzylpiperidine derivatives were synthesized and evaluated for MAO. Most of the compounds showed a higher inhibition of MAO-B than of MAO-A. Compound S5 most potently inhibited MAO-B with an IC50 value of 0.203 µM, followed by S16 (IC50 = 0.979 µM). In contrast, all compounds showed weak MAO-A inhibition. Among them, S15 most potently inhibited MAO-A with an IC50 value of 3.691 µM, followed by S5 (IC50 = 3.857 µM). Compound S5 had the highest selectivity index (SI) value of 19.04 for MAO-B compared with MAO-A. Compound S5 (3-Cl) showed greater MAO-B inhibition than the other derivatives with substituents of -Cl > -OCH3 > -F > -CN > -CH3 > -Br at the 3-position. However, the 2- and 4-position showed low MAO-B inhibition, except S16 (2-CN). In addition, compounds containing two or more substituents exhibited low MAO-B inhibition. In the kinetic study, the Ki values of S5 and S16 for MAO-B were 0.155 ± 0.050 and 0.721 ± 0.074 µM, respectively, with competitive reversible-type inhibition. Additionally, in the PAMPA, both lead compounds demonstrated blood-brain barrier penetration. Furthermore, stability was demonstrated by the 2V5Z-S5 complex by pi-pi stacking with Tyr398 and Tyr326. These results suggest that S5 and S16 are potent, reversible, selective MAO-B inhibitors that can be used as potential agents for the treatment of neurological disorders.
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Inibidores da Monoaminoxidase , Monoaminoxidase , Piperidinas , Inibidores da Monoaminoxidase/farmacologia , Inibidores da Monoaminoxidase/química , Inibidores da Monoaminoxidase/síntese química , Monoaminoxidase/metabolismo , Piperidinas/farmacologia , Piperidinas/química , Humanos , Relação Estrutura-Atividade , Piridazinas/química , Piridazinas/farmacologia , Piridazinas/síntese química , Simulação de Acoplamento Molecular , Estrutura MolecularRESUMO
OBJECTIVES: To first investigate the effectiveness of modified constraint-induced movement therapy (mCIMT) in low-functioning patients with stroke (PwS). Second, we aimed to investigate the efficiency of intermittent theta-burst stimulation (iTBS), applied on intermittent days, in addition to the mCIMT in PwS. DESIGN: A randomized, sham-controlled, single-blinded study. SETTING: Outpatient clinic. PARTICIPANTS: Fifteen PwS (age [mean±SD]: 66.3±9.2 years; 53% female) who were in the first 1 to 12 months after the incident were included in the study. INTERVENTIONS: PwS were divided into 3 groups: (1) mCIMT alone; (2) mCIMT + sham iTBS; (3) mCIMT + iTBS. Each group received 15 sessions of mCIMT (1 hour/session, 3 sessions/week). iTBS was applied with 600 pulses on impaired M1 before mCIMT. MAIN OUTCOME MEASURES: Upper extremity (UE) impairment was assessed with the Fugl-Meyer Test (FMT-UE), whereas the motor function was evaluated with the Wolf-Motor Function Test (WMFT). Motor Activity Log-28 (MAL-28) was used to evaluate the amount of use and how well (How Well Scale) the impaired UE movements. RESULTS: With-in-group analysis revealed that all groups had statistically significant improvements based on the FMT-UE and MAL-28 (p<.05). However, the performance time and arm strength variables of WMFT were only increased in the mCIMT + iTBS group (p<.05). The only between-group difference was observed in the intracortical facilitation in favor of the mCIMT + iTBS group (p<.05). The effect size of iTBS was f=0.18. CONCLUSIONS: Our findings suggest that mCIMT with and without the application of iTBS has increased the UE motor function in low-functioning PwS. iTBS applied on intermittent days may have additional benefits as an adjunct therapy for facilitating cortical excitability, increasing the speed and strength of the impaired UE as well as decreasing disability.
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INTRODUCTION: Overuse of analgesics can lead to medication-overuse headache (MOH) in chronic migraine (CM) patients, and is often linked to addiction. This study explores the addiction-related characteristics and somatic amplification in patients with, CM with medication overuse headache (CM+MOH), CM, and healthy controls. METHODS: 73 CM patients and 70 CM+MOH, along with 63 healthy controls, participated in the study. Assessments included a Sociodemographic Form, Migraine Disability Assessment Scale (MIDAS), Addiction Profile Index (API), Addiction Profile Index-Clinical Version (API-C), and the Somatosensory Amplification Scale (SSAS). RESULTS: Substance use characteristics, craving, motivation for use, and addiction severity scores were higher in the CM+MOH group than in both the CM and the control group. Specifically, the SSAS scores within the CM+MOH group surpassed those of both the CM and control groups. In the CM+MOH group, SSAS scores were a strong predictor of the amount of analgesic usage. Besides, craving and motivation for substance use scores significantly predicted the number of days analgesic taken per month in the CM+MOH group CONCLUSION: CM patients with MOH exhibit a pronounced association with addiction, and a heightened manifestation of somatic symptoms. Addressing addiction characteristics and psychosomatic amplification is important to ensure comprehensive management.
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The complementation Q group (FANCQ) subtype of Fanconi anemia (FA) caused by the ERCC4/XPF mutation is very rare. Two siblings, aged 13 and 10 with Fanconi phenotypic features, presented with right hemiparesis and focal-onset seizures. In both cases, cranial magnetic resonance imaging (MRI) showed mass-like lesions accompanied by peripheral edema and calcification. In one case, oral steroid treatment and surgical excision were performed, while in the other case, the cranial lesion regressed just with steroid treatment and without surgery. Both siblings remained wheelchair-bound due to neurological dysfunction. One case died due to hepatocellular carcinoma. ERCC4/XPF gene mutation was detected in both siblings.
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Proteínas de Ligação a DNA , Anemia de Fanconi , Irmãos , Humanos , Anemia de Fanconi/complicações , Anemia de Fanconi/genética , Anemia de Fanconi/patologia , Masculino , Proteínas de Ligação a DNA/genética , Criança , Adolescente , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/complicações , Feminino , Imageamento por Ressonância Magnética , Mutação , Diagnóstico DiferencialRESUMO
BACKGROUND: H3 K27M-mutated gliomas were first described as a new grade 4 entity in the 2016 World Health Organization classification. Current studies have focused on its typical appearance in children and young adults, increasing the need to better understand the prognostic factors and impact of surgery on adults. Here, we report a multicentric study of this entity in adults. METHODS: We included molecularly confirmed H3 K27M-mutated glioma cases in patientsâ ≥â 18 years diagnosed between 2016 and 2022. Clinical, radiological, and surgical features were analyzed. Univariate and multivariate analyses were performed to identify prognostic factors. RESULTS: Among 70 patients with a mean age of 36.1 years, the median overall survival (OS) was 13.6â ±â 14 months. Gross-total resection was achieved in 14.3% of patients, whereas 30% had a subtotal resection and 54.3% a biopsy. Tumors located in telencephalon/diencephalon/myelencephalon were associated with a poorer OS, while a location in the mesencephalon/metencephalon showed a significantly longer OS (8.7 vs. 25.0 months, Pâ =â .007). Preoperative Karnofsky-Performance Score (KPS)â ≤â 80 showed a reduced OS (4.2 vs. 18 months, Pâ =â .02). Furthermore, ATRX loss, found in 25.7%, was independently associated with an increased OS (31 vs. 8.3 months, Pâ =â .0029). Notably, patients undergoing resection showed no survival benefit over biopsy (12 vs. 11 months, Pâ =â .4006). CONCLUSIONS: The present study describes surgical features of H3 K27M-mutated glioma in adulthood in a large multicentric study. Our data reveal that ATRX status, location and KPS significantly impact OS in H3 K27M-mutated glioma. Importantly, our dataset indicates that resection does not offer a survival advantage over biopsy.
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Neoplasias Encefálicas , Glioma , Histonas , Mutação , Proteína Nuclear Ligada ao X , Humanos , Masculino , Glioma/cirurgia , Glioma/genética , Glioma/patologia , Glioma/mortalidade , Feminino , Proteína Nuclear Ligada ao X/genética , Adulto , Prognóstico , Neoplasias Encefálicas/cirurgia , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/mortalidade , Histonas/genética , Pessoa de Meia-Idade , Adulto Jovem , Taxa de Sobrevida , Seguimentos , Biomarcadores Tumorais/genética , Idoso , Adolescente , Estudos RetrospectivosRESUMO
BACKGROUND: The treatments based on motor control and motor learning principles have gained popularity in the last 20 years, as well as non-invasive brain stimulations that enhance neuroplastic changes after stroke. However, the effect of intermittent theta burst stimulation (iTBS) in addition to evidence-based, intensive neurorehabilitation approaches such as modified constraint-induced movement therapy (mCIMT) is yet to be investigated. AIM: We aim to establish a protocol for a randomized controlled study investigating the efficiency of mCIMT primed with iTBS after stroke. METHODS: In this randomized controlled, single-blind study, patients with stroke (N = 17) will be divided into 3 groups: (a) mCIMT + real iTBS, (b) mCIMT + sham iTBS, and (c) mCIMT alone. 600-pulse iTBS will be delivered to the primary motor cortex on the ipsilesional hemisphere, and then, patients will receive mCIMT for 1 h/session, 3 sessions/week for 5 weeks. Upper extremity recovery will be assessed with Fugl-Meyer Test-Upper Extremity and Wolf Motor Function Test. Electrophysiological assessments, such as Motor-Evoked Potentials, Resting Motor Threshold, Short-Intracortical Inhibition, and Intracortical Facilitation, will also be included. CONCLUSIONS: In this study, a protocol of an ongoing intervention study investigating the effectiveness of iTBS on ipsilesional M1 prior to the mCIMT in patients with stroke is proposed. This will be the first study to research priming mCIMT with iTBS and it may have the potential to reveal the true effect of the iTBS when it is added to the high-quality neurorehabilitation approaches. TRIAL REGISTRATION: Trial registration number: NCT05308667.
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Recuperação de Função Fisiológica , Reabilitação do Acidente Vascular Cerebral , Acidente Vascular Cerebral , Estimulação Magnética Transcraniana , Extremidade Superior , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Potencial Evocado Motor/fisiologia , Córtex Motor/fisiopatologia , Ensaios Clínicos Controlados Aleatórios como Assunto/métodos , Recuperação de Função Fisiológica/fisiologia , Método Simples-Cego , Acidente Vascular Cerebral/fisiopatologia , Acidente Vascular Cerebral/terapia , Reabilitação do Acidente Vascular Cerebral/métodos , Ritmo Teta/fisiologia , Estimulação Magnética Transcraniana/métodos , Extremidade Superior/fisiopatologiaRESUMO
BACKGROUND: Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by loss of function variants in the CYP27A1 gene which encodes sterol 27-hydroxylase, on chromosome 2q35. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. The aim of this study is to review the orthopedic findings of the disease by providing an overview of the clinical features of the disease. It is to raise awareness of this condition for which early diagnosis and treatment are important. METHODS: We retrospectively evaluated the clinical, laboratory, radiological, and genetic findings of eight patients from four families who were admitted to our Orthopedics and Traumatology Department between 2017 and 2022 due to bilateral Achilles tendon xanthomas, were found to have high cholestanol and CYP27A1 gene mutations. RESULTS: The mean age of patients was 37, and five of them were male. The mean age at the onset of symptoms was 9.25 years. The mean age of initial diagnosis was 33.75 years. Between symptom onset and clinical diagnosis, an average delay of 24.5 years was observed. All patients had bilateral Achilles tendon xanthoma. Notably, a novel variant (c.670_671delAA) in CYP27A1 gene was identified in three patients who also presented with peripheral neuropathy and bilateral pes cavus. One patient had osteoporosis and four patients had osteopenia. Five patients had a history of bilateral cataracts. Furthermore, three of the patients had early-onset chronic diarrhea and three of the patients had ataxia. Two of the patients had epilepsy and seven of the patients had behavior-personality disorder. All patients had low intelligence, but none of them had cardiac disease. CONCLUSION: We present the diagnostic process and clinical features which the largest CTX case series ever reported from single orthopedic clinic. We suggest that patients with normal cholesterol levels presenting with xanthoma being genetically analyzed by testing at their serum cholestanol level, and that all siblings of patients diagnosed with CTX be examined.
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Colestanotriol 26-Mono-Oxigenase , Xantomatose Cerebrotendinosa , Adulto , Criança , Feminino , Humanos , Masculino , Colestanotriol 26-Mono-Oxigenase/genética , Colestanol/uso terapêutico , Estudos Retrospectivos , Xantomatose/genética , Xantomatose Cerebrotendinosa/diagnóstico , Xantomatose Cerebrotendinosa/genéticaRESUMO
Clear cell sarcoma of the kidney (CCSK) is a rare primary renal tumor in children. It is known for its propensity to metastasize to bones and lungs at initial diagnosis. Distant metastatic relapses occur in about 15-16% of the patients, with the brain being the most frequent site of relapse. Imaging features of brain metastases from CCSK have only been reported in a few cases and most reports lack a detailed description of the imaging findings. We present brain magnetic resonance imaging (MRI) findings in an infant with relapsed CCSK who developed multiple parenchymal metastases with concentric signal alterations and no tumor-associated edema.
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Neoplasias Encefálicas , Neoplasias Renais , Sarcoma de Células Claras , Criança , Lactente , Humanos , Sarcoma de Células Claras/diagnóstico por imagem , Sarcoma de Células Claras/patologia , Rim/patologia , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/patologia , Neoplasias Encefálicas/patologia , Imageamento por Ressonância MagnéticaRESUMO
OBJECTIVES: Iron deficiency anemia (IDA) is the most common type of anemia in childhood and it leads to a hypercoagulable state. We investigated endogenous thrombin production in platelet-poor plasma before and after oral iron replacement in children with IDA using the thrombin generation assay (TGA). METHODS: A total of 72 children diagnosed with IDA (IDA group) and 60 healthy children (control group) were included in the study. Blood samples were collected from the patients before and 1 month after oral iron replacement. TGA parameters [lag time, time to peak, peak height, endogenous thrombin potential (ETP)] were studied. RESULTS: In the IDA group, the lag time and time to peak decreased by 8.3% and 10.6%, respectively, and the endogenous thrombin potential (ETP) and peak height both increased by 30% compared to those of the control group. Compared to the values before iron replacement, 1 month after iron replacement, the lag time and time to peak increased by 8.7% and 5%, respectively, and the ETP and peak height decreased by 31% and 31.3%, respectively, and became similar to those of the control group. CONCLUSION: Children with IDA have increased endogenous thrombin production in platelet-poor plasma and a tendency for hypercoagulability. These changes are reversible, and the ETP values become similar to those of healthy children 1 month after iron replacement.
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Anemia Ferropriva , Trombofilia , Criança , Humanos , Trombina , Testes de Coagulação Sanguínea , FerroRESUMO
OBJECTIVE: Cigarette smoking is a primary risk factor, linked to 80% of LC deaths. TP53, a key gene, is implicated in various cancers, with TP53 alterations in 36.7% of cancers. This research aims to investigate TP53 mutations detected in NSCLC patients by liquid biopsy and explore the relationship between these mutations and smoking history. MATERIAL AND METHOD: The study enrolled a total of 340 patients diagnosed with non-small cell lung cancer (NSCLC). For sequencing, the Illumina NextSeq 500 system was utilized. The oncogenicity of the variants was assessed according to the ClinGen/CGC/VICC SOP and the variants were categorized into four tiers according to AMP/ASCO/CAP. RESULTS: The most common mutations were in TP53 (48.7%), followed by EGFR, PIK3CA, and PTEN. Missense mutations were frequent, with TP53 and EGFR having higher rates in ever-smokers. No indels or complex mutations were found in ever-smokers. Patient age ranged from 20 to 86 years. Tier I-II variants were more common in ever-smokers, while Tier III variants were prevalent in never-smokers. TP53 mutations were more frequent in ever-smokers, showing a strong association with smoking. Domain distribution showed differences in PIK3CA. Transversion/transition ratios varied by gene and smoking status. DISCUSSION: The presence of TP53 mutations is strongly associated with both cigarette smoking and elevated Tv/Ti ratios. The tier status of TP53, EGFR, and PTEN variants does not show a specific domain distribution, but interesting associations are observed between the tier status and domain distribution in PIK3CA variants. Therefore, further comprehensive investigations are needed to explore this entity, as well as the underlying factors contributing to the increased Tv/Ti rates in the TP53 gene. Such research will provide deeper insights into the genetic alterations associated with smoking and tumor heterogeneity, ultimately aiding in the development of targeted therapies.
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BACKGROUND: Although the necessity of upper limb (UL) (dys)function assessment in people with Multiple Sclerosis (pwMS) has been demonstrated in recent years, this is still neglected at an early-stage. OBJECTIVE: The aim of our study was to comprehensively examine bilateral UL in early-stage pwMS who are thought to have no or minimal involvement in activities of daily living for the UL. METHODS: UL muscle strength, sensation and dexterity of 44 pwMS (EDSS score<4, disease duration<5 years, who did not report problems in daily living activities specifically for the UL) were evaluated bilaterally and compared with 44 healthy controls (HC). The relationship between UL function and muscle strength, sensation, cognitive function, fatigue, mood status, participation, EDSS, and disease duration were examined. The results of the outcome measures evaluating the UL function objectively and subjectively were analyzed. RESULTS: Muscle strength, sensation and dexterity were similar in the dominant and nondominant extremities of pwMS and were affected compared to HC. A fair relationship was found between UL function and proximal muscle strength, fatigue, cognitive function, home participation and EDSS. According to the cut-off value (18 s) of Nine Hole Peg Test, only 9.09% of pwMS was unaffected, but 79.54% of affected pwMS had a full ABILHAND score. CONCLUSION: Early-stage pwMS are unaware of the dysfunction since their UL involvement does not affect their daily living activities yet. Patient-reported outcome measures such as ABILHAND can be misleading and have a ceiling effect in the early-stage of the disease. Objective functional evaluations reveal that UL capacity is affected from the early period. Even if pwMS do not report UL involvement, clinicians and researchers should evaluate UL function and include it in the treatment program from an early-stage to prevent further disease burden.
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Esclerose Múltipla , Humanos , Esclerose Múltipla/complicações , Atividades Cotidianas , Extremidade Superior , Força Muscular , Fadiga/etiologiaRESUMO
OBJECTIVE: Hereditary cancer syndromes constitute 5-10% of all cancers. The development of next-generation sequencing technologies has made it possible to examine many hereditary cancer syndrome-causing genes in a single panel. This study's goal was to describe the prevalence and the variant spectrum using NGS in individuals who were thought to have a hereditary predisposition for cancer. MATERIAL AND METHOD: Analysis was performed for 1254 who were thought to have a familial predisposition for cancer. We excluded 46 patients who were carrying BRCA1/2 variants in this study, for focusing on the rare gene mutations. Sequencing was performed using the Sophia Hereditary Cancer Solution v1.1 Panel and the Qiagen Large Hereditary Cancer Panel. The Illumina MiSeq system was used for the sequencing procedure. The software used for the data analyses was Sophia DDM and QIAGEN Clinical Insight (QCITM) Analyze. The resulting genomic changes were classified according to the current guidelines of ACMG/AMP. RESULTS: Pathogenic/likely pathogenic variants were detected in 172 (13.7%) of 1254 patients. After excluding the 46 BRCA1/2-positive patients, among the remaining 126 patients; there were 60 (4.8%) breast cancer, 33 (2.6%) colorectal cancer, 9 (0.7%) ovarian cancer, 5 (0.4%) endometrium cancer, 5 (0.4%) stomach cancer, 3 (0.2%) prostate cancer patients. The most altered genes were MUTYH in 27 (2.1%) patients, MMR genes (MLH1, MSH6, MSH, MSH2, PMS2 and EPCAM) in 26 (2%) patients, and ATM in 25 (2%) patients. We also examined the genotype-phenotype correlation in rare variants. Additionally, we identified 11 novel variations. CONCLUSION: This study provided significant information regarding rare variants observed in the Turkish population because it was carried out with a large patient group. Personalized treatment options and genetic counseling for the patients are therefore made facilitated.
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Proteína BRCA1 , Neoplasias da Mama , Masculino , Feminino , Humanos , Proteína BRCA1/genética , Predisposição Genética para Doença , Aconselhamento Genético , Proteína BRCA2/genética , Neoplasias da Mama/genética , Mutação em Linhagem GerminativaRESUMO
BACKGROUND: Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Advanced RB, associated with exceedingly poor prognosis, requires more intensive multiagent chemotherapy than conventional regimens. Rescue of the bone marrow after intensive chemotherapy is achieved with stem cell transplantation. The sequential courses (tandem transplantation) of high-dose chemotherapy followed by autologous stem cell transplantation allow for even greater dose intensity in consolidation with the potential to use different active chemotherapeutics at each transplant and have proven feasible and successful in treating children with recurrent/refractory solid tumors. CASE DESCRIPTION: We report an infant with trilateral high-risk RB who received tandem high-dose chemotherapy (HDC) followed by autologous stem cell transplantation after the conventional chemotherapy. A 5-month-old female patient presented with strabismus, and the ophthalmoscopic examination showed intraocular tumoral lesions in both eyes. Magnetic resonance imaging (MRI) concluded the trilateral retinoblastoma diagnosis due to a tumoral mass in the optic chiasm. The follow-up ophthalmologic examinations and the MRI detected stable disease after six cycles of multiagent chemotherapy. CONCLUSIONS: Rescue with autologous stem cell transplantation after HDC allows for an increase in chemotherapy intensity. Tandem transplantation provides the chance to perform different chemotherapeutics at each transplant and enables an increase in the chemotherapy intensity, thus providing a positive effect on disease-free survival.
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Transplante de Células-Tronco Hematopoéticas , Neoplasias da Retina , Retinoblastoma , Criança , Lactente , Humanos , Feminino , Retinoblastoma/diagnóstico , Retinoblastoma/tratamento farmacológico , Transplante Autólogo , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Recidiva Local de Neoplasia , Transplante de Células-Tronco , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/tratamento farmacológico , Terapia CombinadaRESUMO
BACKGROUND: Dual-energy computed tomography scans can provide significant benefits to the urinary system. The aim of this study is to determine the limitations and benefits of using dual energy CT urography in patients with urinary system stones and cysts. METHODS: In the analysis of the images, the virtual noncontrasted images obtained from the combined nephrogenicexcretory phase and the true noncontrasted images were evaluated. The true noncontrast images were accepted as the gold standard for stone detection. RESULTS: Eighty-three different stones were detected in 26 of the 115 patients included in the study. Sensibilities of virtual noncontrast images in detecting urinary system stones were 66.7% and 65.4% according to the first and second radiologists, respectively. In this study, 32 hyperdense cysts were detected. According to iodine map images, there was no enhancement in 26 of 32 cysts; only 5 cysts showed minimal contrast enhancement. One patient could not decide on contrast enhancement. DISCUSSION: As a result, if CT urography is performed with dual energy, it can provide additional information in patients with urinary system disorder.
Assuntos
Cálculos Urinários , Doenças Urológicas , Humanos , Meios de Contraste , Cálculos Urinários/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Urografia/métodosRESUMO
PURPOSE: To evaluate the frequency of abdominal computed tomography (CT) findings in patients with coronavirus disease-2019 (COVID-19) and interrogate the relationship between abdominal CT findings and patient demographic features, clinical findings, and laboratory test results as well as the CT atherosclerosis score in the abdominal aorta. METHODS: This study was designed as a multicenter retrospective study. The abdominal CT findings of 1.181 patients with positive abdominal symptoms from 26 tertiary medical centers with a positive polymerase chain-reaction test for severe acute respiratory syndrome coronavirus 2 were reviewed. The frequency of ischemic and non-ischemic CT findings as well as the association between CT findings, clinical features, and abdominal aortic calcific atherosclerosis score (AA-CAS) were recorded. RESULTS: Ischemic and non-ischemic abdominal CT findings were detected in 240 (20.3%) and 328 (27.7%) patients, respectively. In 147 patients (12.4%), intra-abdominal malignancy was present. The most frequent ischemic abdominal CT findings were bowel wall thickening (n = 120; 10.2%) and perivascular infiltration (n = 40; 3.4%). As for non-ischemic findings, colitis (n = 91; 7.7%) and small bowel inflammation (n = 73; 6.2%) constituted the most frequent disease processes. The duration of hospital stay was found to be higher in patients with abdominal CT findings than in patients without any positive findings (13.8 ± 13 vs. 10.4 ± 12.8 days, P < 0.001). The frequency of abdominal CT findings was significantly higher in patients who did not survive the infection than in patients who were discharged after recovery (41.7% vs. 27.4%, P < 0.001). Increased AA-CAS was found to be associated with a higher risk of ischemic conditions in abdominal CT examinations. CONCLUSION: Abdominal symptoms in patients with COVID-19 are usually associated with positive CT findings. The presence of ischemic findings on CT correlates with poor COVID-19 outcomes. A high AA-CAS is associated with abdominal ischemic findings in patients with COVID-19.