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2.
Clin Neurol Neurosurg ; 238: 108173, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38430729

RESUMO

BACKGROUND: Cognitive evaluation was considered to be very important in the relapse period, on the basis of the presence of isolated cognitive attacks and the necessity of monitoring the patient both physically and cognitively. MATERIALS AND METHODS: People with MS (pwMS) who were hospitalized during relapse were included in the study. All MS patients were evaluated by the neurologist with Expanded Disability Status Scale (EDSS), The 9 Hole Peg Test (9HPT) and the Timed 25-Foot Walk Test (T25-FWT). Additionally, all participants were examined cognitively with the Turkish version of the Brief International Cognitive Assessment for MS (BICAMS) battery. Also, schedules were indicated as during relapse before the treatment (pre-treatment) and the first month after relapse (1-month follow-up). RESULTS: A total of 140 MS patients (mean age; 34.98±10.09, mean disease duration; 6.05±5.29 years) and 86 healthy controls (mean age; 36.94±10.83) were included to the present study. The mean EDSS scores in pre-treatment in MS patients was 2.74±1.14 and decreased significantly in the 1-month follow-up (1.74±1.24; p<0.001). The mean SDMT score was lower by 8.76 points in MS patients than in HCs) in pre-treatment and 7.66 points in 1-month follow-up (p<0.001). The mean SDMT scores of all participants increased with measurement time gradually (p<0.001). CONCLUSION: In this study, it was detected which cognitive domains were affected after relapse treatment and cognitive changes in pwMS during relapse and remission periods compared to the healthy controls. All three BICAMS test scores significantly increased in one-month follow-up than the pre-treatment period. The results showed that CVLT-II and BVMT-R scores improved more in pwMS than in HCs, and also SDMT scores of pwMS showed a trend of increase, but was not a significant improvement.


Assuntos
Esclerose Múltipla , Humanos , Esclerose Múltipla/psicologia , Estudos Prospectivos , Testes Neuropsicológicos , Cognição , Recidiva , Doença Crônica
3.
Artigo em Inglês | MEDLINE | ID: mdl-38376472

RESUMO

Summary: Background. Guidelines highlight the pivotal role of adrenaline auto-injector (AAI) training. However, the standards of visual training platforms has not been determined. Our aim was to evaluate the reliability and quality of the AAI related videos on YouTube. Methods. After a search on YouTube about AAI, all videos were categorized into groups based on their origin and the aim of the content. The quality, reliability, understandibility, and actionability of the videos were evaluated using the Global Quality Scale (GQS), Patient Education Materials Assessment Tool Audovisiual (PEMAT-A/V), Quality Criteria for Consumer Health Information (DISCERN), and a modified DISCERN. In each video, the application steps of AAI were evaluated according to a scale of correct usage. Results. 107 YouTube videos in English were included. No significant difference in terms of views, likes, duration and uploading time was observed between the health and non-health groups whereas the GQS (p=0.001), DISCERN (total: p=0.02, and overall: p=0.094), modified DISCERN (p=0.001) scores were higher in the health group. It was found that scores tended to be higher in educational videos. AAI use was mentioned in 85% videos. The median number of mentioned steps was 6. Conclusions. YouTube is an effective platform for visual learning for the use of AAIs. Although the visibility of the videos is equal independent of the origin, the ones recorded by medical professionals seem to provide the most qualified and reliable information.

4.
Artigo em Inglês | MEDLINE | ID: mdl-38054608

RESUMO

Summary: Background. Although biologic agents promise a short- to medium-term remission in asthma, it is unclear whether they can fundamentally alter disease course and achieve long-term remission. We aimed to investigate the clinical remission success of biologics in patients with severe asthma and the factors associated with remission. Methods. Adults followed-up due to severe asthma who were treated with mepolizumab or omalizumab were included in the study. Sociodemographic and clinical characteristics were reviewed. Subjects with and without clinical remission at 12 and 36 months were identified. Comparisons between the groups were made with univariate and multivariable analyses. Results. Seventy-four patients were included in the study. The mean age of subjects was 51.85 (standard deviation: 11.43) years, and 50 (67.57%) were females. The 12- and 36-month remission rates were 72.97% and 51.79%, respectively. Patients with and without remission were similar in terms of age and gender distribution. FEV1% predicted (p = 0.009) and FEV1/FVC ratio (p = 0.039) were significantly higher in those with remission at 12 months compared to those without. FEV1 (p less than 0.001), FEV1% predicted (p less than 0.001) and FEV1/FVC ratio (p = 0.004) were significantly higher in those with remission at 36 months compared to those without. Multivariable logistic regression revealed that higher FEV1% predicted was the only factor independently associated with remission for both time points. Conclusions. Omalizumab and mepolizumab provide significant clinical remission rates in severe asthma. FEV1% predicted is a variable that can independently predict clinical remission among severe asthmatics receiving biologic agents.

5.
Allergy ; 78(12): 3241-3251, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37545316

RESUMO

BACKGROUND: Oral immunotherapy (OIT) is a promising treatment for food allergies. Our aim was to establish the long-term safety and efficacy of a novel red meat (RM) OIT in galactose-alpha-1,3-galactose (alpha-gal) allergy in adults. METHODS: Out of 20 patients with confirmed RM allergy, five (41.66%) underwent an early OIT, seven (58.33%) underwent a delayed protocol and eight patients who were not desensitized formed the patient control group. 15 and 27 day RM OIT for early-onset and delayed-onset alpha-gal allergy were administered, respectively. Desensitized patients were recommended to continue eating at least 100 g RM every day for 6 months and every other day in the following 6 months. After a year, the consumption was recommended 2/3 times in a week. Patients were followed up with skin tests with commercial beef and lamb extracts, fresh raw/cooked beef and lamb and cetuximab and also with serum alpha-gal specific Immunoglobulin-E (sIgE) in the first and fifth years. RESULTS: All patients who underwent OIT became tolerant to RM. During the 5 year follow-up, the median alpha-gal sIgE concentration gradually decreased in nine patients who consumed RM uneventfully while remained unchanged in the control group (p = .016). In two patients, rare tick bites acted as inducers of hypersensitivity reactions with concomitant elevation of alpha-gal sIgE concentrations whereas one patient with low follow-up alpha-gal sIgE concentrations consumed RM uneventfully after frequent tick bites. CONCLUSIONS: Our study showed the long-term safety and efficacy of alpha-gal OIT. Additionally, alpha-gal sIgE seems to be a potential biomarker to monitor OIT.


Assuntos
Hipersensibilidade Alimentar , Carne Vermelha , Picadas de Carrapatos , Adulto , Bovinos , Humanos , Animais , Ovinos , Galactose , Picadas de Carrapatos/terapia , Hipersensibilidade Alimentar/diagnóstico , Hipersensibilidade Alimentar/terapia , Carne Vermelha/efeitos adversos , Alérgenos , Biomarcadores , Imunoterapia , Imunoglobulina E , Carne/efeitos adversos
6.
Eur Rev Med Pharmacol Sci ; 27(5): 1816-1823, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36930475

RESUMO

OBJECTIVE: Hearing impairment is a global health problem due to its impact on quality of life and communication problems between individuals. Hearing aids are the recommended intervention, but use of hearing aids is low. In this study, the effect of social appearance anxiety on the decision to use a hearing aid was investigated. PATIENTS AND METHODS: The study comprised 107 individuals aged 65-81 years who were offered hearing aids due to bilateral severe or moderate sensorineural hearing loss. The patients were divided into three groups, according to their hearing aid preferences and usage decisions. Social appearance anxiety scale was applied to all patients. RESULTS: The mean age of the 107 patients included in the study was 70.19±5.35 years. The social appearance anxiety scores of those who did not want to use a hearing aid were much higher than those of whom desired to use a behind-the-ear or in-canal hearing aid. The social appearance anxiety scores of the patients who wanted to use in-canal hearing aids were also higher than the group who wanted to use behind-the-ear hearing aids. CONCLUSIONS: In this study, which focused on the hearing aid candidate group who had never obtained a device, rather than why they stopped using a hearing aid, it was assumed that social appearance concern was relevant in the phase of receiving a hearing aid.


Assuntos
Auxiliares de Audição , Perda Auditiva Neurossensorial , Perda Auditiva , Humanos , Idoso , Pessoa de Meia-Idade , Qualidade de Vida , Perda Auditiva Neurossensorial/terapia , Ansiedade
7.
Niger J Clin Pract ; 25(11): 1853-1863, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36412293

RESUMO

Background: In dentistry, needles are the most feared and anxiety-causing tool, making anesthetic injection a worrying practice for patients. Aim: To evaluate the effect of intraosseous anesthesia (IOA) and needle-free dental anesthesia (NFA) on pain levels in systemically healthy 8-10-year-old patients. Patients and Methods: Twenty patients aged 8-10 years were included in this cross-over study. Specifically, the pain was measured by Wong Baker, pulse rate (PR), and salivary opiorphin levels (SOL). In addition, the Frankl Behavioral scale was used to measure behaviors and face, legs, activity, cry, consolability (FLACC) was utilized to measure pain and discomfort. To determine the patients' anxiety levels Spielberger State-Trait Anxiety Scale (SSAS-SAAS) was used. The Friedman and Wilcoxon signed-rank tests were used. P < 0.05 was considered significant. Results: According to FLACC scores, IOA and NFA exhibited significantly pain alteration patterns in during local and topical anesthesia, respectively (p = 0.004, 0.001; P < 0.01). Also, only NFA showed significantly decreased SOL values in 5- and 10-min after local anesthesia periods compared to the before levels (p = 0.004, P = 0.001; P < 0.01). Conclusion: Patients feel similar pain perceptions during local anesthesia application in both injection systems. According to the SOL values, NFA may provide more higher anesthetic efficiency than IOA.


Assuntos
Anestesia Dentária , Ansiedade , Humanos , Criança , Estudos Cross-Over , Anestesia Local , Dor
8.
Eur Rev Med Pharmacol Sci ; 26(20): 7443-7453, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36314314

RESUMO

OBJECTIVE: Recurrent tonsillitis and obstructive tonsillar hypertrophy are very common in childhood and constitute the two major causes of tonsillectomy in this age group. There is no study in the literature on the immune/histopathological changes in the recurrent and obstructive tonsillar hypertrophy of Weber's glands. In this study, we aimed to histopathologically and immunohistochemically examine the Weber's glands of pediatric patients with recurrent. PATIENTS AND METHODS: A total of 63 patients, with 31 patients aged 6-9 who had surgery for recurrent tonsillitis, and 32 patients aged 6-11 years who had surgery for obstructive tonsillar hypertrophy, were included in the study. The removed Weber's glands were included in the obstructive tonsillar hypertrophy or recurrent tonsillitis group according to the patient's clinical diagnosis. All specimens were coded with a numbering method, where only the surgeon knew which patient was in which group. All specimens were evaluated in the same histology center and by the same histologist, unaware of the clinical diagnosis of the patients (blind). RESULTS: The comparison of Weber's gland immunohistochemical parameter scores of the groups revealed that the scores of the RT group were significantly higher for all three parameters (VEGF: t=6.777; p<0.001), (EGFR: t=4.386; p<0.001), (IL-6: t=5.072; p<0.001). The comparison of the groups in terms of inflammation, basement membrane thickening, myoepithelial cell and glycoprotein accumulation revealed significantly higher Weber's gland evaluation scores in the RT group for all four parameters. (inflammation: t=7.794; p<0.001), (basement membrane thickening: t=6.582; p<0.001), [myoepithelial cell: t=3.693; p<0.001), (glycoprotein accumulation: t=5.287; p<0.001)]. CONCLUSIONS: Histopathological and immunohistochemical examination of Weber's gland in pediatric recurrent tonsillitis and obstructive tonsillar hypertrophy cases revealed inflammatory changes in both disease groups. As expected, inflammatory manifestations were more common in the recurrent tonsillitis group. Besides, inflammatory changes detected in Weber's glands of obstructive tonsillar hypertrophy cases without a history of tonsillitis may contribute to the Weber's gland hypothesis, which attempts to explain the etiology of peritonsillar abscess.


Assuntos
Tonsilectomia , Tonsilite , Criança , Humanos , Tonsilite/cirurgia , Tonsila Palatina/patologia , Tonsila Palatina/cirurgia , Hipertrofia/patologia , Inflamação/patologia , Recidiva
10.
Hippokratia ; 26(2): 86-88, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-37188043

RESUMO

BACKGROUND: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a systemic disease leading to renal complications of pauci-immune focal and segmental necrotizing crescentic glomerulonephritis (PI-NCGN). CASE DESCRIPTION: We present a 57-year-old female patient with rapidly progressive glomerulonephritis, multiple systemic infections [candidiasis and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)], severe weight loss, arthralgia, positive myeloperoxidase ANCA, acute deterioration of cardiac function and NCGN with heavy deposition of immunoglobulin (Ig) A and complement 3 (C3) in kidney biopsy. After two months of follow-up and appropriate treatments [methylprednisolone (60 mg/day), cyclophosphamide (15 mg/kg)], our patient recovered from multiple life-threatening infections, including candidiasis treated by fluconazole and SARS-CoV-2 treated by methylprednisolone and acute cardiac failure. In addition, she was saved from dialysis despite all poor prognostic factors. CONCLUSION: AAV might lead to immune complex deposition in kidneys due to different pathogenetic mechanisms like complement activation and immune complex formation, apart from losing tolerance to neutrophil proteins. HIPPOKRATIA 2022, 26 (2):86-88.

11.
Mult Scler Relat Disord ; 52: 102968, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33940495

RESUMO

BACKGROUND: The pandemic of the new type of corona virus infection 2019 [Covid-19] also affect people with Multiple Sclerosis (pwMS). Currently, the accumulating information on the effects of the infection regarding the demographic and clinical characteristics of the disease, as well as outcomes within different DMTs¸ enable us to have better practices on the management of the Covid-19 infection in pwMS. OBJECTIVE: To investigate the incidence of coronavirus disease 2019 (Covid-19) and to reveal the relationship between the demographic-clinical and therapeutic features and the outcome of Covid-19 infection in a multi-center national cohort of pwMS. METHODS: The Turkish Neurological Society-MS Study Group in association with the Italian MuSC-19 Study Group initiated this study. A web-based electronic Case Report Form (eCRF) of Study-MuSC-19 were used to collect the data. The demographic data and MS histories of the patients were obtained from the file tracking forms of the relevant clinics. RESULTS: 309 MS patients with confirmed Covid-19 infection were included in this study. Two hundred nineteen (219) were females (70.9%). The mean age was 36.9, ranging from 18 to 66, 194 of them (62.8%) were under 40. The clinical phenotype was relapsing-remitting in 277 (89.6%) and progressive in 32 (10.4%). Disease duration ranged from 0.2 years to 31.4 years. The median EDSS was 1.5, ranging from 0 to 8.5. The EDSS score was<= 1 in 134 (43%) of the patients. 91.6% of the patients were on a DMT, Fingolimod was the most frequently used drug (22.0%), followed by Interferon (20.1%). The comorbidity rate is 11.7%. We were not able to detect any significant association of DMTs with Covid-19 severity. CONCLUSION: The Turkish MS-Covid-19 cohort had confirmed that pwMS are not at risk of having a more severe COVID-19 outcome irrespective of the DMT that they are treated. In addition, due to being a younger population with less comorbidities most had a mild disease further highlight that the only associated risk factors for having a moderate to severe COVID-19 course are similar with the general population such as having comorbid conditions and being older.


Assuntos
COVID-19 , Esclerose Múltipla , Adulto , Estudos de Coortes , Feminino , Cloridrato de Fingolimode , Humanos , SARS-CoV-2
13.
Pediatr Surg Int ; 37(9): 1235-1241, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33895860

RESUMO

PURPOSE: Hydatid cyst (HC) is a serious health problem in developing countries. The aim is to discuss the clinical information, surgical and puncture-aspiration-injection-re-aspiration (PAIR) treatments, and results of patients with HC in a developing country. METHODS: Patients were analyzed in terms of gender, age, presenting complaint, misdiagnosed HC, cyst location, cyst number, cyst size, liver HC type according to the World Health Organization Informal Working Group Echinococcosis (WHO-IWGE) classification, pulmonary HC, hemithorax locations, treatments and interventions, duration of hospitalization, follow-up period, postoperative complications, and recurrence. RESULTS: There were 106 girls and 99 boys with a mean age of 10.7 years. The most common location was the liver (n = 170), and the second most common was the lungs (n = 67). The mean diameter for liver HC was 86.27 mm, and it was 73.90 mm for pulmonary HC. PAIR was performed on 61 patients with liver HC using interventional radiology. 109 patients underwent surgery. The most common complications were cystobiliary fistula in liver HC and atelectasis in pulmonary HC. CONCLUSION: HC should be one of the first considerations in the differential diagnosis in all anatomical areas in the presence of suspicious radiological and clinical findings in endemic regions.


Assuntos
Equinococose Hepática/epidemiologia , Equinococose , Criança , Países em Desenvolvimento , Equinococose/diagnóstico , Equinococose/epidemiologia , Equinococose/cirurgia , Equinococose Hepática/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Masculino , Recidiva Local de Neoplasia , Radiografia
15.
Eur Rev Med Pharmacol Sci ; 24(24): 12821-12826, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33378031

RESUMO

OBJECTIVE: The pathogenesis of primary hypertension (HT) is still not completely clear, although autoimmunity has been implicated in recent years. Carbonic anhydrase (CA) is an enzyme involved in a number of important metabolic processes. CA I and II autoantibodies have been linked to various autoimmune diseases. However, CA I and II autoantibody levels in primary HT have not been previously investigated. The purpose of this study was, therefore, to investigate levels of CA I and II autoantibodies in primary HT. PATIENTS AND METHODS: Fifty-six patients newly diagnosed with primary HT and 33 healthy individuals were included in the study. Twenty-four-hour ambulatory blood pressure monitoring was performed following office controls. Blood specimens were collected under appropriate conditions for CA I and II autoantibody level investigation and biochemical tests. Urine sodium and protein excretion were measured after 24 h. Demographic and biochemical parameters and CA I and II autoantibody levels were then compared between the patient and healthy groups. RESULTS: CA II autoantibody and uric acid levels were significantly higher in the hypertensive group than in the control group (p=0.005, and p<0.001, respectively). CA II autoantibody (exp ß: 79.06 CI: 4.44-1407.02) (p=0.003) and uric acid elevation (exp ß: 2.10 CI: 1.31- 3.34) (p=0.002) were identified as independent predictors of HT development at logistic regression analysis. CONCLUSIONS: CA II autoantibody levels were higher in hypertensive patients, and this elevation is an independent predictor of HT development.


Assuntos
Autoanticorpos/sangue , Anidrase Carbônica II/sangue , Anidrase Carbônica I/sangue , Hipertensão/sangue , Autoanticorpos/metabolismo , Anidrase Carbônica I/metabolismo , Anidrase Carbônica II/metabolismo , Feminino , Humanos , Hipertensão/diagnóstico , Masculino , Pessoa de Meia-Idade
16.
New Microbes New Infect ; 37: 100756, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32922804

RESUMO

Dornase alfa, the recombinant form of the human DNase I enzyme, breaks down neutrophil extracellular traps (NET) that include a vast amount of DNA fragments, histones, microbicidal proteins and oxidant enzymes released from necrotic neutrophils in the highly viscous mucus of cystic fibrosis patients. Dornase alfa has been used for decades in patients with cystic fibrosis to reduce the viscoelasticity of respiratory tract secretions, to decrease the severity of respiratory tract infections, and to improve lung function. Previous studies have linked abnormal NET formations to lung diseases, especially to acute respiratory distress syndrome (ARDS). It is well known that novel coronavirus disease 2019 (COVID-19) pneumonia progresses to ARDS and even multiple organ failure. High blood neutrophil levels are an early indicator of COVID-19 and predict severe respiratory diseases. Also it is reported that mucus structure in COVID-19 is very similar to that in cystic fibrosis due to the accumulation of excessive NET in the lungs. In this study, we showed the recovery of three individuals with COVID-19 after including dornase alfa in their treatment. We followed clinical improvement in the radiological analysis (two of three cases), oxygen saturation (Spo2), respiratory rate, disappearance of dyspnoea, coughing and a decrease in NET formation and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) viral load after the treatment. Also here, we share our preliminary results suggesting that dornase alfa has an anti-viral effect against SARS-CoV-2 infection in a green monkey kidney cell line, Vero, and a bovine kidney cell line, MDBK, without determined cytotoxicity on healthy peripheral blood mononuclear cells.

17.
Hippokratia ; 24(2): 59-65, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33488053

RESUMO

BACKGROUND: The molecular basis of migraines is still not completely understood. Over the last 30 years, mitochondrial dysfunction has been postulated as a potential mechanism in migraine pathogenesis. This study aimed to determine whether maternal mitochondrial variation was associated with migraines with aura. METHODS: In this cross-sectional study, 50 individuals, who had been diagnosed with migraines with aura between January 2016 and July 2018 in the Neurology Department of the University Medical Faculty, and 50 healthy controls were recruited. Genomic DNA was isolated from the Ethylenediaminetetraacetic acid (EDTA) blood samples of the patients and the controls using the Easy One automated DNA isolation system. Mitochondrial DNA (mtDNA) libraries were prepared according to the Nextera XT DNA library-preparation protocol, and they were sequenced on the MiSeq platform (Illumina Inc., San Diego, CA, USA). RESULTS: In the patient and control groups' analysis, 13 mtDNA variations were determined to be significantly different (p <0.05). The CC genotype for NC_012920.1: m.8277T>C variation was found to be higher in the patient group than the control group (p =0.001). The mtDNA NC_012920.1: m.8277T>C variation was significantly associated with the presence of neurological disease in the patient's family (p =0.043). CONCLUSIONS: The present study is the first to demonstrate an association between mitochondrial dysfunction and the susceptibility to migraine with aura in individuals carrying the NC_012920.1: m.8277T>C variation. Knowing the level of cytochrome C oxidase and oxidative phosphorylation corruption in these patients may be predictive in understanding the phenotype/genotype relationship. Thus, mtDNA variations may contribute to the pathogenesis of migraines with aura. HIPPOKRATIA 2020, 24(2): 59-65.

18.
Balkan J Med Genet ; 23(2): 49-58, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33816072

RESUMO

Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2. Therefore, it has been suggested that TNFRSF11A, which is among those modifying genes present in breast cancer development, may have a significant role in patients with positive BRCA1 or BRCA2 variations. In our study, we investigated the probable effects of single nucleotide polymorphisms (SNPs) in the TNFRSF11A gene, such as rs4485469, rs9646629, rs34739845, rs17069904, rs 884205, rs4941129 on the risk of breast cancer in patients with BRCA1 or BRCA2 variations. A total of 23 breast cancer patients with pathogenic variations in the BRCA1 or BRCA2 genes, 28 patients with no pathogenic variations in the BRCA1 or BRCA2 genes, and 55 healthy women as a control group, were included in this study. The SNPs were determined with allelic discrimination analysis through the real-time polymerase chain reaction (qPCR) method. There was no statistically significant difference between the SNPs of the TNFRSF11A gene rs4485469, rs9646629, rs34739845, rs17069904, rs884205, rs4941129 and metastasis, estrogen receptor, progesterone receptor and CerB2 receptor positivity between patient and control group (p >0.05). However, the rs4485469 SNP was found to be borderline significant between the patient groups with and without BRCA1 or BRCA2 mutations (p = 0.059). In patients with BRCA1 or BRCA2 pathogenic variations living in the Trakya region of Turkey, we could not determine the relationship between TNFRSF11 SNPs with breast cancer risk.

19.
Balkan J Med Genet ; 23(2): 59-64, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33816073

RESUMO

Multiple myeloma (MM) is one of the plasma cell-related hematological malignancies exceeding 10.0% of all marrow cells, and they make a paraprotein that is a marker of the disease. Myeloma is one of the most common types of hematological malignancies in humans. Genetic bio-markers have been used for prognostic markers in patients diagnosed with MM. The genetic and genomic changes have been identified using karyotyping, fluorescent in situ hybridization (FISH), next generation sequencing (NGS), specifically whole-genome sequencing or exome sequencing. Circulatory plasma cells, circulating free DNA (cfD-NA) and microRNAs (miRNAs) comprised in liquid biopsy are potentially used in diagnosis/prognosis of MM. In this study, we analyzed and compared results of karyo-typing, FISH and NGS in 35 MM cases. Diagnostic strategies are expanding rapidly and newly developed NGS-based testing may help the understanding of the complexities of genetic alterations in karyotypically normal cases.

20.
Mult Scler Relat Disord ; 33: 94-99, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31176296

RESUMO

Susac's Syndrome (SS), which was first described in 1979, is a rare and presumably autoimmune disorder characterized by encephalopathy, hearing loss, and visual disturbance resulting from branch retinal artery occlusion (BRAO). This study reports 19 SS patients' clinical characteristics, MRI features, CSF analysis, treatment strategies and outcomes. At initial presentation, only three of 19 patients demonstrated the complete clinical triad. Clinic presentation varied from isolated hemiparesis to the full triad (encephalopathy, hearing loss and visual disturbances). Corpus callosum (CC) involvement was noted in the MRI of 18 patients (97%) and BRAO was detected in 17 (95%) patients. All patients were treated with intravenous methylprednisolone after the initial assessment. This case series is presented to emphasize the differences in clinical presentation of SS and the importance of MRI and FFA in diagnosis.


Assuntos
Síndrome de Susac/diagnóstico , Síndrome de Susac/tratamento farmacológico , Síndrome de Susac/patologia , Adulto , Idoso , Anti-Inflamatórios/uso terapêutico , Feminino , Angiofluoresceinografia/métodos , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Metilprednisolona/uso terapêutico , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
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