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NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, specifically microlissencephaly and microhydranencephaly. The root of these different phenotypes remains unclear. Here, we report a 20-year-old male patient referred to our clinics due to severe microcephaly, developmental delay, spastic quadriplegia, and dysmorphic features. The cranial computed tomography revealed abnormal brain structure and excess of cerebrospinal fluid, consistent with microhydranencephaly. A homozygous c.684_685del, p.(Pro229TrpfsTer85) change in NDE1 gene was found by clinical exome analysis. The variant has previously been reported in individuals with microlissencephaly, therefore we propose that the same variant within the gene may cause either microlissencephaly or microhydranencephaly phenotypes. There are only a few papers about NDE1-related disorders in the literature and the patient we described is important to clarify the phenotypic spectrum of the disease.
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Hidranencefalia , Lisencefalia , Microcefalia , Humanos , Hidranencefalia/diagnóstico , Hidranencefalia/genética , Lisencefalia/diagnóstico , Lisencefalia/genética , Masculino , Microcefalia/diagnóstico , Microcefalia/genética , Proteínas Associadas aos Microtúbulos/genéticaRESUMO
Purpose: Magnetic resonance imaging (MRI) has a special place in the evaluation of orbital and periorbital lesions. Segmentation is one of the deep learning methods. In this study, we aimed to perform segmentation in orbital and periorbital lesions. Material and methods: Contrast-enhanced orbital MRIs performed between 2010 and 2019 were retrospectively screened, and 302 cross-sections of contrast-enhanced, fat-suppressed, T1-weighted, axial MRI images of 95 patients obtained using 3 T and 1.5 T devices were included in the study. The dataset was divided into 3: training, test, and validation. The number of training and validation data was increased 4 times by applying data augmentation (horizontal, vertical, and both). Pytorch UNet was used for training, with 100 epochs. The intersection over union (IOU) statistic (the Jaccard index) was selected as 50%, and the results were calculated. Results: The 77th epoch model provided the best results: true positives, 23; false positives, 4; and false negatives, 8. The pre-cision, sensitivity, and F1 score were determined as 0.85, 0.74, and 0.79, respectively. Conclusions: Our study proved to be successful in segmentation by deep learning method. It is one of the pioneering studies on this subject and will shed light on further segmentation studies to be performed in orbital MR images.
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Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by articular and extra-articular manifestations. Among extra-articular involvement, rheumatoid meningitis (RM) is a rare condition, which may exhibit variable symptoms including headache, focal and/or generalized neurologic deficits. It may develop as the preceding manifestation of RA or occur at any time of the disease course. Some drugs used for the treatment of RA may give rise to aseptic meningitis or create a tendency to infectious meningitis due to their immunosuppressive effect. All these possibilities may lead to difficulties in the differential diagnosis. Achieving a diagnosis in a short time is crucial in terms of prognosis. Here, we would like to report a case with longstanding RA manifested by left-sided weakness and seizure shortly after initiating etanercept (ETA) therapy. ETA-induced meningitis was confirmed with appropriate diagnostic tools. Our aim with this case-based review is to attract the attention of this rare condition and discuss diagnostic challenges.
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Artrite Reumatoide/tratamento farmacológico , Meningite Asséptica/induzido quimicamente , Inibidores do Fator de Necrose Tumoral/efeitos adversos , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Inibidores do Fator de Necrose Tumoral/administração & dosagem , Inibidores do Fator de Necrose Tumoral/imunologiaRESUMO
S-adenosylhomocysteine hydrolase deficiency is an autosomal recessive neurometabolic disorder affecting the muscles, liver, and nervous system. The disease occurs by pathogenic variants of AHCY gene encoding S-adenosylhomocysteine hydrolase (AHCY) enzyme. This article reports a patient with presumed AHCY deficiency who was diagnosed by whole exome sequencing due to compound heterozygosity of novel p.T57I (c.170C>T) and p.V217M (c.649G>A) variants of AHCY gene. The patient had diffuse edema, coagulopathy, central nervous system abnormalities, and hypotonia. She died in 3 months due to cardiovascular collapse. Clinical findings of the present case were compatible with previously reported AHCY deficiency patients and the novel variants we found are considered to be the cause of the symptoms. This article also compiles the previous reports and expands clinical spectrum of AHCY deficiency by adding new features.
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Adenosil-Homocisteinase/genética , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Glicina N-Metiltransferase/deficiência , Mutação , Erros Inatos do Metabolismo dos Aminoácidos/genética , Feminino , Glicina N-Metiltransferase/genética , Humanos , Recém-Nascido , PrognósticoRESUMO
In this study, the percent of wormian bones in congenital aural atresia group was higher than healthy group, when tested by the Fisher exact test, there appeared to be no significant statistical difference. However, in congenital aural atresia surgery, surgical manipulation can dislodge these bones causing injury to the surrounding structures. Therefore, the radiologists should report the presence of wormian bones in the peritemporal area.
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Anormalidades Congênitas/diagnóstico por imagem , Suturas Cranianas/diagnóstico por imagem , Orelha/anormalidades , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Orelha/diagnóstico por imagem , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Interpretação de Imagem Radiográfica Assistida por Computador , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
PURPOSE: Incomplete partition III (IP-III) characterized by congenital mixed or sensorineural hearing loss is a rare genetic disease transmitted through X-linked inheritance. Incomplete partition III can be easily achieved based on pathognomonic computed tomography findings. The aims of this study were to investigate the otic capsule abnormalities in IP-III and to report irregular contour of membranous labyrinth and hypomineralized areas at otic capsule, which have not previously been described. MATERIALS AND METHODS: The otic capsule features of 10 subjects (8 affected patients, 1 of whom is a female; 2 carrier mothers), who were diagnosed on clinical and typical radiologic findings, were analyzed. RESULTS: All patients had typical IP-III as described in the literature. Seven of 10 patients had irregular contour. Seven of 10 patients demonstrated hypomineralized areas, which were very hypodense to normally develop otic capsule areas. One affected patients and 2 carrier mothers had a normal-looking membranous labyrinth contour and normal mineralization at otic capsule. CONCLUSIONS: We report for the first time the irregular contour of inner ear structures and hypodense otic capsule areas in patients with IP-III. We think that though speculative, abnormal development of the inner endosteal layer results in irregular contour of inner ear structures. Hypomineralized areas at otic capsule could be explained by abnormal development of middle enchondral layer due to reduced or absent vascular supply from middle ear mucosa during fetal life. These findings may be accepted as additional criteria of IP-III.
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Orelha Interna , Perda Auditiva Neurossensorial , Tomografia Computadorizada por Raios X/métodos , Adolescente , Adulto , Idoso , Desmineralização Patológica Óssea/diagnóstico por imagem , Desmineralização Patológica Óssea/patologia , Criança , Pré-Escolar , Orelha Interna/anormalidades , Orelha Interna/diagnóstico por imagem , Feminino , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Masculino , Adulto JovemRESUMO
PURPOSE: Incomplete partition III (IP-III), characterized by congenital mixed or sensorineural hearing loss, is a rare genetic disease transmitted through X-linked mode of inheritance. Inner ear findings of IP-III have been well described and allow an immediate diagnosis to be made. Recently, an association between IP-III and distinct hypothalamic malformations has been reported in some of the patients with IP-III. The purpose of this study was to investigate the morphologic abnormalities of the hypothalamus in IP-III. MATERIALS AND METHODS: Magnetic resonance imaging studies of 8 subjects, including 1 set of brothers, who were diagnosed with IP-III based on their clinical and inner ear imaging findings, were analyzed. RESULTS: Of the 8 subjects, 7 demonstrated some degree of morphologic abnormality of the hypothalamus. Of these, 2 showed asymmetrical thickening, 1 showed symmetrical thickening, and 4 showed mass-like enlargement of the hypothalamus. Six of 7 subjects with hypothalamic abnormalities showed asymmetry in caudal extension of the abnormalities, which was more discernible on coronal oblique T2-weighted images. Clinically, none of the subjects had endocrinologic or neurologic symptoms. CONCLUSIONS: This retrospective analysis presents further magnetic resonance imaging evidence on the association between the rare IP-III malformations and the presence of hypothalamic morphologic abnormalities.
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Orelha Interna , Doenças Genéticas Ligadas ao Cromossomo X , Perda Auditiva Neurossensorial , Hipotálamo , Adolescente , Adulto , Idoso , Pré-Escolar , Orelha Interna/anormalidades , Orelha Interna/diagnóstico por imagem , Orelha Interna/patologia , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico por imagem , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/patologia , Humanos , Hipotálamo/anormalidades , Hipotálamo/diagnóstico por imagem , Hipotálamo/patologia , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Adulto JovemRESUMO
PURPOSE: The purpose of this study was to prospectively assess the Eustachian tube (ET) cartilage using 3 Tesla (3T) magnetic resonance imaging (MRI) and compare the results between healthy ears and those with a middle ear disease. MATERIAL AND METHODS: The study included 56 ears with a middle ear disease as the patient group and 100 ears without a middle ear disease as the control group. The patients' age ranged from 18 to 65 years. The axial three-dimensional (3D) multiple echo recombined gradient echo (MERGE) sequence and oblique parasagittal planes were obtained. Visualisation of the ET cartilage was assessed on the MR images using a three-point numerical rating score. In the axial plane, the ET lumen's diameter was measured from the mid-portion of the cartilage. RESULTS: There was no significant difference between the patient group and the control group according to patients' age and gender, and the medial laminal thickness of the ET cartilage. In the patient group, the diameter of the ET cartilage was significantly smaller than in the control group. The ET lumen diameter was significantly lower according to each of the three scoring systems. CONCLUSIONS: 3T MRI provides an evaluation of the ET cartilage and isthmus level, which are small but important anatomical localisations and surgical landmarks. MR imaging has the potential to provide essential information on ET prior to new surgical treatments, such as balloon dilation for middle ear diseases.
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OBJECTIVE: The purpose of this study was to investigate the role of flow parameters obtained with dynamic Doppler ultrasound in the objective follow-up of treatment response in patients with Raynaud phenomenon (RP). SUBJECTS AND METHODS: The study included 33 patients with newly diagnosed primary RP, 31 with secondary RP, and 26 healthy participants (control subjects). Both groups of patients with RP underwent sonography before and after treatment. The control group underwent sonography once. Baseline digital arterial diameter and flow volume were measured at room temperature. After cold provocation, diameter and flow volume were measured again, and flow starting time and flow normalizing time were recorded. Data were measured as mean (± SD) values. RESULTS: Baseline diameter did not significantly increase in either group after treatment (p > 0.05) (primary RP pretreatment, 0.79 ± 0.17 mm; posttreatment, 0.82 ± 0.19 mm; secondary RP pretreatment, 0.66 ± 0.13 mm; posttreatment, 0.68 ± 0.14 mm). Baseline flow volume increased significantly in both groups (p < 0.01) (primary RP pretreatment, 3.08 ± 2.96 mL/min; posttreatment, 3.91 ± 3.39 mL/min; secondary RP pretreatment, 2.14 ± 1.94 mL/min; posttreatment, 2.80 ± 2.15 mL/min). Cold provocation diameter increased significantly in both groups after treatment (p < 0.01) (primary RP pretreatment, 0.63 ± 0.15 mm; posttreatment, 0.70 ± 0.16 mm; secondary RP pretreatment, 0.56 ± 0.15 mm; posttreatment, 0.63 ± 0.13 mm). Cold provocation flow volume increased significantly in both groups after treatment (p < 0.01) (primary RP pretreatment, 1.18 ± 1.26 mL/min; posttreatment, 2.17 ± 2.16 mL/min; secondary RP pretreatment, 1.07 ± 1.40 mL/min; posttreatment, 1.46 ± 1.67 mL/min). After treatment, there was no statistically significant increase in flow starting time in patients with primary RP (p > 0.05), but there was a significant increase in patients with secondary RP (p < 0.05) (primary RP pretreatment, 1.15 ± 2.27 minutes; posttreatment, 0.61 ± 1.41 minutes; secondary RP pretreatment, 3.13 ± 4.81 minutes; posttreatment, 1.58 ± 2.36 minutes). After treatment, flow volume normalizing time improved significantly in both groups (p < 0.01) (primary RP pretreatment, 7.24 ± 7.60 minutes; posttreatment, 3.84 ± 3.39 minutes; secondary RP pretreatment, 9.58 ± 8.49 minutes; posttreatment, 4.32 ± 3.56 minutes). Among patients with primary RP, the posttreatment flow starting time was similar to that in the control group. Despite improvements, all remaining parameters differed in the treatment group compared with the control group. CONCLUSION: Doppler ultrasound can be used effectively to monitor RP treatment. Blood flow volume can be measured without cold provocation to facilitate follow-up care of patients with RP.
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Braço/irrigação sanguínea , Doença de Raynaud/diagnóstico por imagem , Doença de Raynaud/terapia , Ultrassonografia Doppler , Adulto , Velocidade do Fluxo Sanguíneo , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Resultado do TratamentoRESUMO
Perivascular spaces (PVSs) surrounding the walls of arteries, arterioles, and venules do not directly communicate with subarachnoid spaces. There are a few reports exhibiting subarachnoid hemorrhage (SAH) and intracerebral hematomas extending to the PVSs by leakage of the leptomeninges that surround arteries. In this report, we present 4 patients of whom 3 had SAH extending into the PVSs in the bilateral basal ganglia and 1 had extension of contrast medium to the PVSs after injection of the contrast medium into the lumbar subarachnoid space. The hemorrhage extending to the PVSs in our 3 patients with SAH could be explained by leakage of the leptomeninges surrounding the arteries. However, how the contrast medium extends to the PVSs is not clear. We think that, although speculative, incomplete or complete defect at the leptomeninges surrounding the arteries resulting in direct continuity between the subarachnoid space and the PVS allows that blood or contrast media to extend to the PVSs.
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Hemorragia Subaracnóidea/diagnóstico por imagem , Espaço Subaracnóideo/irrigação sanguínea , Idoso , Gânglios da Base/irrigação sanguínea , Angiografia Cerebral , Meios de Contraste , Extravasamento de Materiais Terapêuticos e Diagnósticos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios XRESUMO
PURPOSE: Congenital mixed hearing loss associated with fixed stapes footplate is a rare disorder transmitted through X-linked inheritance. The purpose of this study was to report the radiologic findings of X-linked deafness with middle ear anomalies in affected children and young patients and in carrier women. MATERIALS AND METHODS: The computed tomographic and audiometric findings of 7 subjects (4 affected children and young patients, 1 of whom is a girl; 2 carrier mothers; and a man who presented with sudden hearing loss) from different families were analyzed. RESULTS: Computed tomography showed bulbous dilatation of the fundi of the internal auditory canals, incomplete bony separation between the basal turn of the cochleas and the lateral ends of the internal auditory canal, deficiency of the modiolus, enlarged first part of the facial nerve, and dilatation of the superior and the inferior vestibular nerve canal and the singular canal. Besides these characteristic findings, dilatation of the vestibular aqueduct was seen except in the man. Middle ear anomalies including oval and/or round window and/or stapes abnormalities were also detected in three affected patients. The carrier mothers had milder forms of some characteristic findings. CONCLUSIONS: Because of the risks of stapes surgery in X-linked deafness, recognition of the characteristic imaging features of these disorders is important. Especially in young patients with mixed hearing loss, temporal bone computed tomography should be performed before stapes surgery to avoid the complication of stapes gusher. Middle ear anomalies might be highly associated with X-linked deafness.
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Surdez/diagnóstico por imagem , Surdez/genética , Orelha Interna/anormalidades , Perda Auditiva Súbita/diagnóstico por imagem , Perda Auditiva Súbita/genética , Tomografia Computadorizada por Raios X/métodos , Adolescente , Adulto , Idoso , Audiometria , Cromossomos Humanos X , Surdez/cirurgia , Nervo Facial/anormalidades , Feminino , Perda Auditiva Súbita/cirurgia , Humanos , Lactente , Masculino , Estribo/anormalidades , Cirurgia do Estribo , Aqueduto Vestibular/anormalidadesRESUMO
OBJECTIVE: The aim of this study was to measure round window (RW) diameters in patients with congenital aural atresia (CAA) or sensorineural hearing loss (SNHL) and a normal control group and to analyze whether differences exist between these groups. METHODS: Temporal bone computed tomographic scans of 12 patients with CAA (5 males, 7 females) aged 1 to 50 years (median age, 6 years), 12 patients with SNHL (8 males, 4 females) aged 2 to 32 years (median age, 5 years), and 11 patients (3 males, 7 females) aged 2 months to 53 years (median age, 8 years) randomly selected from a pool of patients with unilateral chronic otitis media or cholesteatoma were reviewed. We measured RW diameter on oblique reconstruction planes. To prevent possible individual differences, skull width was measured. RESULTS: There were no statistically significant differences between all groups for skull width. Both RW diameter and RW membrane width were found smaller in the CAA group than both SNHL group and control group with statistical significance, whereas there were no statistically significant differences between the SNHL group and the control group. CONCLUSIONS: We found that both the RW diameter and RW membrane width in CAA were smaller than those in the control group. If this finding is supported in future studies, the production of floating mass transducer with different sizes may be useful. We suggest that RW diameter should be measured in each patient before operation and thus a floating mass transducer with the appropriate caliber should be chosen.
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Anormalidades Congênitas/diagnóstico por imagem , Orelha/anormalidades , Perda Auditiva Neurossensorial/diagnóstico por imagem , Janela da Cóclea/diagnóstico por imagem , Osso Temporal/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Adolescente , Adulto , Criança , Pré-Escolar , Diagnóstico Diferencial , Orelha/diagnóstico por imagem , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Adulto JovemRESUMO
Neurological symptoms such as ptosis may develop due to either chemotherapeutic agents or involvement of the central nervous system (CNS) during hematologic malignancy. It is difficult to make this distinction according to clinical symptoms and magnetic resonance imaging findings. If the neurologic symptoms are increased, it is a warning of CNS involvement. Herein are described the clinical and neuroimaging features of three patients with hematologic malignancy who presented with ptosis.
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Antineoplásicos/efeitos adversos , Blefaroptose/induzido quimicamente , Neoplasias Hematológicas/tratamento farmacológico , Adolescente , Pré-Escolar , Feminino , Humanos , Lactente , MasculinoRESUMO
The aim of this retrospective study was to investigate the relationship between cribriform plate (CP) dimensions and septal deviation degree. Coronal paranasal CT scans of 99 patients were reviewed. We measured depth and width of cribriform plate on both sides and compared with septal deviation side and septal deviation degree. Deviation angles were 6.85 ± 1.47° for right deviations; and 7.11 ± 1.63° for the left deviations. The mean depth of CP was 5.08 ± 1.57 mm at the right side and 5.06 ± 1.59 mm at the left side; and the mean width of CP was found 4.71 ± 1.36 mm at the right side and 4.56 ± 1.51 mm at the left side. When CP dimensions were evaluated according to the septal deviation side, mean width of CP was 4.69 ± 1.36 mm at ipsilateral side (deviated side); and 4.58 ± 1.51 mm at the contralateral side. The mean depth of CP was 4.9 ± 1.56 mm at the ipsilateral side (deviated side); and 5.22 ± 1.58 mm at the contralateral side. The CP depth at the contralateral side was significantly higher than that of the ipsilateral side (deviated side). In right SD, ipsilateral and contralateral CP depth increased. As deviation angle increased, ipsilateral and contralateral CP width, right and left CP width increased. Ipsilateral and contralateral CP width; and additionally ipsilateral and contralateral CP depth increased together. In other words, right and left CP width; and CP depth increased simultaneously. It is well known that the higher incidence of intracranial penetration is on the side where the position of the ethmoid roof (ER) is lower. The presence of septal deviation, the possibility of the deeper CP at the contralateral side should be taken into consideration to avoid iatrogenic injury.
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Osso Etmoide/anormalidades , Osso Etmoide/patologia , Interpretação de Imagem Assistida por Computador , Septo Nasal/anormalidades , Septo Nasal/patologia , Tomografia Computadorizada por Raios X , Adulto , Endoscopia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Estatística como Assunto , Adulto JovemRESUMO
OBJECTIVES: To compare the size of the nasal septal body (SB) and inferior turbinate (IT) of subjects grouped by sex and age. METHOD: We measured SB and IT areas (in cm2) bilaterally in computed tomography (CT) sections of 150 paranasal sinuses from 72 males and 78 females. RESULTS: The right and left SB areas were smaller in females than in males. In the ≤ 25-year-old group, the right IT (RIT) was significantly smaller in females than in males. In the 26-35 and 46-45 age groups, the right SB (RSB) was significantly smaller in females than in males. CONCLUSION: The nasal SB may play a role in nasal physiology similar to a turbinate and help support optimal airflow. The vascular and glandular structures of the SB should be investigated in detail, and minimal invasive procedures should be performed in nasal surgery to avoid damaging essential structures.
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Septo Nasal/patologia , Percepção Olfatória/fisiologia , Olfato/fisiologia , Conchas Nasais/patologia , Adolescente , Adulto , Fatores Etários , Escolaridade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Odorantes , Limiar Sensorial/fisiologia , Fatores Sexuais , Fumar , Turquia , Adulto JovemRESUMO
In the elderly population, Parkinson's Disease (PD) is the second most common neurodegenerative disorder and is associated with morphological changes in the basal ganglia, especially the substantia nigra (SN). This study aimed to evaluate the volume and signal intensity (SI) of SN using Magnetic Resonance Imaging (MRI) to detect structural changes and investigate the relationship between the onset side and disease severity of PD. Clinical features and imaging data of 58 patients with PD were retrospectively analyzed from their medical records. Axial T2-weighted fluid-attenuated inversion recovery (FLAIR) sequences of 3 Tesla (T) MRIs were used for the measurements. The right and left SN volumes and SI measurements were calculated in duplicate by 2 blinded and qualified neuroradiologists. The side of disease onset, disease duration, levodopa equivalent daily dose, Movement Disorder Society-sponsored Unified Parkinson Disease Rating Scale (MDS-UPDRS III) motor score, and modified Hoehn and Yahr (H&Y) scale scores were recorded and compared with SN volume and SI measurements. No statistically significant difference was found between the disease onset side and contralateral SN volume or SI measurements (Pâ >â .05). Despite high inter- and intra-rater reliability rates, there was no significant difference in the volume and SI of the contralateral SN according to H&Y stages (Pâ >â .05). Furthermore, SN volume and SI measurements were not significantly correlated with disease duration and MDS-UPDRS III motor score (Pâ >â .05). SN volume and SI values measured using axial FLAIR 3T MRI are not correlated with the side of onset or disease severity in PD. New imaging methods are required to detect preclinical or early-stage PD.
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Doença de Parkinson , Humanos , Idoso , Doença de Parkinson/diagnóstico por imagem , Doença de Parkinson/patologia , Estudos Retrospectivos , Reprodutibilidade dos Testes , Imageamento por Ressonância Magnética , Substância Negra/diagnóstico por imagemRESUMO
OBJECTIVE: Intravenous gadolinium-enhanced inner ear magnetic resonance imaging (IV Gd-enhanced inner ear MRI) is a new technique for diagnosing Meniere's disease (MD). Vestibular tests have also long been used for MD, but which tests should be included in the oto-neurological test battery remains controversial. The evaluation method to be used to confirm the clinical diagnosis in MD is not clear. This study aimed to examine the results of vestibular tests and IV Gd-enhanced inner ear MRI in individuals diagnosed with unilateral definite Meniere's disease. METHODS: IV Gd-enhanced inner ear MRI (Endolymphatic Hydrops [EH] and Perilymphatic Enhancement [PE]), conventional audiometry (0.25-8â¯kHz), video Head Impulse Test (vHIT), cervical Vestibular Evoked Myogenic Potential (cVEMP), air caloric test, and dizziness handicap inventory were applied to 16 adult patients diagnosed with unilateral definite MD. RESULTS: Among the patients with definite MD, EH (cochlear and/or vestibular) was identified in 93.7% and 68.7% of the symptomatic and the asymptomatic ears, respectively. There was a positive correlation between the hearing thresholds at 2, 4, 6 and 8â¯kHz and the degree of cochlear EH (pâ¯<â¯0.05). PE (cochlear and/or vestibular) was observed in 37.5% of the asymptomatic and symptomatic ears. The sensitivity of the vestibular test battery (vHIT, cVEMP, and caloric test) was 100% and its specificity was 50%, while the sensitivity of the IV Gd-enhanced inner ear MRI (EH and PE together) was 93.8% and the specificity was 81.3%. CONCLUSION: MRI had higher sensitivity and specificity than the vestibular test battery. PE or vHIT alone was not considered to be reliable in the diagnosis of MD. In suspected MD, the clinical history, hearing tests, and IV Gd-enhanced inner ear MRI are sufficient for diagnosis. If MRI technique is not possible, vestibular tests (caloric test and cVEMP, not vHIT) can provide reliable results when evaluated together.
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Hidropisia Endolinfática , Doença de Meniere , Potenciais Evocados Miogênicos Vestibulares , Vestíbulo do Labirinto , Adulto , Humanos , Doença de Meniere/diagnóstico por imagem , Vestíbulo do Labirinto/diagnóstico por imagem , Testes Calóricos , Potenciais Evocados Miogênicos Vestibulares/fisiologia , Imageamento por Ressonância Magnética/métodosRESUMO
Thromboembolic diseases are accepted as the most important complications in adult nephrotic syndrome, particularly membranous nephropathy. As renal vein thrombosis is usually seen in patients with membranous nephropathy, cerebral venous thrombosis is a very rare condition, which has not been reported previously in adult patients with membranous nephropathy. Although acquired dysfunctions of coagulation and fibrinolytic systems are responsible for hypercoagulopathy in patients with nephrotic syndrome, the two most common causes of hereditary venous thrombosis [the mutations of factor V Leiden and methylenetetrahydrofolate reductase (MTHFR)] facilitate thrombosis in arterial and venous system in these patients. We report a 56-year-old man with sinovenous thrombosis, diagnosed as membranous nephropathy and detected to have mutations in factor V Leiden and MTHFR A1298C. Our patient is important because he had genetic risk of thrombotic conditions and was the first adult patient with membranous nephropathy.
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Fator V/genética , Glomerulonefrite Membranosa/complicações , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Trombose dos Seios Intracranianos/genética , Glomerulonefrite Membranosa/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação PuntualRESUMO
OBJECTIVE: Differentiating glioblastoma (GBM) and solitary metastasis is not always possible using conventional magnetic resonance imaging (MRI) techniques. In conventional brain MRI, GBM and brain metastases are lesions with mostly similar imaging findings. In this study, we investigated whether apparent diffusion coefficient (ADC) ratios, ADC gradients, and minimum ADC values in the peritumoral edema tissue can be used to discriminate between these two tumors. METHODS: This retrospective study was approved by the local institutional review board with a waiver of written informed consent. Prior to surgical and medical treatment, conventional brain MRI and diffusion-weighted MRI (b = 0 and b = 1000) images were taken from 43 patients (12 GBM and 31 solitary metastasis cases). Quantitative ADC measurements were performed on the peritumoral tissue from the nearest segment to the tumor (ADC1), the middle segment (ADC2), and the most distant segment (ADC3). The ratios of these three values were determined proportionally to calculate the peritumoral ADC ratios. In addition, these three values were subtracted from each other to obtain the peritumoral ADC gradients. Lastly, the minimum peritumoral and tumoral ADC values, and the quantitative ADC values from the normal-appearing ipsilateral white matter, contralateral white matter, and ADC values from cerebrospinal fluid (CSF) were recorded. RESULTS: For the differentiation of GBM and solitary metastasis, ADC3 / ADC1 was the most powerful parameter with a sensitivity of 91.7% and specificity of 87.1% at the cut-off value of 1.105 (p < 0.001), followed by ADC3 / ADC2 with a cut-off value of 1.025 (p = 0.001), sensitivity of 91.7%, and specificity of 74.2%. The cut-off, sensitivity and specificity of ADC2 / ADC1 were 1.055 (p = 0.002), 83.3%, and 67.7%, respectively. For ADC3 - ADC1, the cut-off value, sensitivity, and specificity were calculated as 150 (p < 0.001), 91.7%, and 83.9%, respectively. ADC3 - ADC2 had a cutoff value of 55 (p = 0.001), sensitivity of 91.7%, and specificity of 77.4, whereas ADC2 - ADC1 had a cut-off value of 75 (p = 0.003), sensitivity of 91.7%, and specificity of 61.3%. Among the remaining parameters, only the ADC3 value successfully differentiated between GBM and metastasis (GBM 1802.50 ± 189.74 vs. metastasis 1634.52 ± 212.65, p = 0.022). CONCLUSION: The integration of the evaluation of peritumoral ADC ratio and ADC gradient into conventional MR imaging may provide valuable information for differentiating GBM from solitary metastatic lesions.
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Glioblastoma , Encéfalo/diagnóstico por imagem , Diagnóstico Diferencial , Imagem de Difusão por Ressonância Magnética , Glioblastoma/diagnóstico por imagem , Humanos , Estudos RetrospectivosRESUMO
Subacute thyroiditis is the most common cause of painful thyroid gland diseases. It is characterized by inflammation of the thyroid gland and usually occurs after viral upper respiratory tract infections. Coronavirus disease 2019 (COVID-19) can lead to subacute thyroiditis. There are also vaccine-related subacute thyroiditis cases in the literature. Here, we describe a 67-year-old male patient developing subacute thyroiditis following COVID-19 vaccination.