American journal of neurodegenerative disease最新文献

Brucellosis is a prevalent zoonotic disease that is associated with consuming produce from animals infected with Brucella species, usually in the form of unpasteurized milk and milk products. The involvement of the central nervous system (CNS) is an uncommon but dangerous indication of neurobrucellosis. Neurobrucellosis can cause specific imaging findings on magnetic resonance imaging (MRI). In this study, we report a very rare case of neurobrucellosis presenting with stroke-like symptoms that were treated using antibiotics. A 38-year-old male was referred with a presenting complaint of headache, ataxia, and dysarthria. He was admitted one month prior for possible cerebral vascular accident (CVA), which was ruled out. On neurological examination, left-central facial paralysis and bilateral positive Babinski sign were observed. The brain magnetic resonance imaging (MRI) performed with and without contrast demonstrated an acute ischemic stroke in the right middle cerebral artery (MCA) territory and extra-axial heterogeneous ring-enhancing lesions, respectively. Brucellosis was confirmed on serological assessment. In rare instances, neurobrucellosis can cause stroke-like symptoms and brain abscesses. Neurobrucellosis should be considered in such patients when other neurological disorders cannot explain neuroimaging abnormalities.

Background: Congenital myasthenic syndromes (CMS) are rare inherited disorders of neuromuscular transmission caused by mutations in presynaptic, synaptic, or postsynaptic components. They usually manifest in childhood with fatigability, ptosis, ophthalmoplegia, and generalized weakness, but late presentations also occur.

Case summary: We report a 20-year-old male presenting with heart failure and respiratory failure who was found to have a heterozygous AGRN gene mutation (c.4319>T; p. Pro1440Leu). Clinical features included muscle wasting, weakness, restricted gaze, and respiratory compromise requiring ICU care. Genetic sequencing confirmed AGRN-related CMS. Management included ICU support, pyridostigmine trial, heart failure therapy, salbutamol, and fluoxetine with improvement.

Discussion: Diagnosis of CMS requires clinical suspicion, characteristic electrophysiology, and genetic confirmation. Treatment varies with subtype; AGRN-related CMS responds variably to salbutamol and ephedrine, while cholinesterase inhibitors may be ineffective. Prognosis depends on timely diagnosis and management.

Background: Focal cortical dysplasia (FCD) is a congenital deformity caused by FCD maturation, differentiation, and neuronal migration. Magnetic resonance imaging (MRI) is one of the most popular and consistent procedures for diagnosing FCD. Limited research has evaluated the relationship between the FCD and thalamic volume. Therefore, we conducted the current study to compare thalamic volumes between patients with FCD and healthy individuals.

Methods: The current study was a cross-sectional study of patients with FCD referred to Kashani and Milad Hospitals in Isfahan City in 2019-2021. All patients who met the inclusion criteria were enrolled in the study using the census method. The study population was divided into two groups: patients with FCD and healthy controls. MRI was performed on patients with FCD using a Siemens 1.5 or 3 Tesla MRI device. The data were analyzed using SPSS Statistics for Windows (IBM SPSS Statistics for Windows, Version 18.0).

Results: Among the 60 patients, 30 had FCD with a mean age of 22.6 ± 9.3 years, and 30 were healthy with a mean age of 26.3 ± 3.6 years. The only significant difference observed was between the right and left thalamic volumes in the FCD group (P = 0.042). The thalamus on the involved side was significantly smaller than that on the non-involved side in patients (P-value < 0.001). However, no significant differences were observed in the absolute value of the difference between the left and right thalamic volumes when comparing all patients with FCD to those in the non-FCD group (P = 0.054).

Conclusion: Our study showed that in patients with FCD, the thalamus on the involved side was significantly smaller than that on the noninvolved side.

Background: Determining fetal sex during the early stages can help identify potential x-linked disorders and predict pregnancy complications and outcomes related to fetal sex. Few studies have evaluated the use of anogenital distance (AGD) and fetal heart rate (FHR) as sonographic markers for predicting fetal sex in the first trimester. Therefore, this study aimed to predict fetal sex by measuring AGD and FHR using ultrasound in the first trimester.

Methods: This cross-sectional study was conducted at Shahid Beheshti Hospital, Isfahan City, in 2022-2023. Ultrasound scans of 143 singleton pregnancies between 11 and 13 plus 6 gestational weeks and their fetal sex at birth were collected. The exact age of pregnancy was determined by measuring crown-rump length (CRL). The diagnostic value of AGD and FHR in predicting fetal sex was evaluated using receiver operating characteristic (ROC) curve analysis, and indicators such as sensitivity, specificity, positive and negative predictive value, and the area under the curve (AUC) were reported.

Results: A total of 143 pregnant women with the mean age of 31.08 ± 5.26 years were entered to our study. The mean CRL and FHR in male and female fetuses were not significantly associated with fetal sex (P > 0.001). However, AGD was significantly higher in male fetuses than in female fetuses (P < 0.001). Moreover, we found that AGD at the cut-off point of 4.2 mm had a significant diagnostic value in predicting male sex (AUC = 0.792; P < 0.001).

Conclusion: Our study demonstrated that AGD measurement, unlike FHR and CRL, could be a valuable procedure for predicting fetal sex.

Background: Hearing impairments are manifestations of Parkinson's disease (PD). We aimed to assess central auditory processing (CAP) functions with PD and their predictors.

Methods: This was a cross-sectional study. It included 35 patients (male = 21; female = 14). The severity of PD was assessed using modified Hoehn and Yahr Scale. The severities of depression and cognitive manifestations were assessed using Beck Depression Inventory II (BDI-II) and Mini Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA). Participants underwent audiometry and testing of CAP using dichotic digit (DDT), duration pattern (DPT) and speech in noise (SPIN) tests.

Results: Patients had mean age at presentation of 56.66 ± 11.05 yrs and mean duration of PD of 4.77 ± 2.73 yrs. Among were ~69% of patients were in early stages of the disease. Compared to controls (n = 25), patients had poor cognition [MMSE: 20.98 ± 2.36, P = 0.001; MoCA: 18.41 ± 3.00, P = 0.001], hearing impairment at high frequencies (4000 HZ), higher speech reception threshold (SRT) (P = 0.001) and worse performance in DDT (P = 0.0001), DPT (P = 0.0001) and SPIN (P = 0.001). These impairments were independently correlated with cognitive deficits (DDT: P = 0.036; DPT: P = 0.050, SPIN: P = 0.023).

Conclusions: CAP dysfunctions occur in early stages of PD. They include impairments in auditory discrimination, spatial perception, binaural integration, temporal ordering or sequencing, and selective attention. The DDT, DPT and SPIN are useful battery measures for testing CAP with PD. Dopamine deficiencies in PD at different auditory pathway levels including the brainstem and cortico-subcortical levels and neurodegenerative diffuse PD pathology can be the causes of CAP impairments.

Parkinson's disease (PD) is a progressive neurodegenerative disorder that primarily affects motor function. However, PD may also result in substantial cognitive impairments, including spatial memory deficits. Spatial memory, defined as the ability to encode, store, and retrieve information about environmental spatial orientation, is a critical component of daily functioning. A comprehensive understanding of the neural mechanisms underlying these deficits is imperative for the development of targeted interventions. This narrative review explores the neural basis of spatial memory deficits in PD, summarizing evidence from neuroimaging and neurophysiological studies. In addition, it examines current assessment methods and their clinical applications. Spatial memory is primarily governed by the hippocampus and interconnected cortical and subcortical structures, including the basal ganglia, the prefrontal cortex, and the anterior cingulate cortex. In PD, dopaminergic degeneration in the substantia nigra leads to functional disruptions in these networks. The basal ganglia, particularly the striatum, play a crucial role in procedural aspects of spatial navigation, while the hippocampus is essential for allocentric mapping. The utilization of functional neuroimaging techniques has yielded evidence of altered activity in these regions, which is concomitant with spatial memory deficits. Traditional neuropsychological assessments, laboratory-based tasks, and recent advancements, including virtual reality-based tasks, have been employed in the evaluation of spatial memory. The identification of spatial memory deficits in PD is of significant diagnostic and therapeutic importance. Future research should focus on integrating multimodal assessment tools to enhance diagnostic accuracy and explore novel therapeutic approaches targeting spatial memory dysfunction. The cause of spatial memory deficits in PD is multifactorial, arising from complex interactions between dopaminergic depletion and dysfunction in hippocampal-cortical networks. Advancements in assessment methodologies and targeted interventions hold considerable potential for enhancing spatial cognitive outcomes in patients diagnosed with PD. However, further research is required to refine diagnostic tools and develop effective rehabilitation strategies that are targeted at spatial memory impairments in PD.

Neurodegenerative diseases, including Alzheimer's, Parkinson's, and multiple sclerosis, are a growing healthcare challenge due to their impact on quality of life and the difficulty in treating them. These disorders are associated with brain lesions and barriers, such as the blood-brain barrier (BBB), that impede effective treatment. Nanotechnology, especially functionalized nanoparticles (NPs), is emerging as a promising tool for overcoming these barriers. Nanoparticles, such as liposomes, polymeric micelles, and gold nanoparticles (AuNPs), show potential for targeted drug and gene delivery to the brain, enhancing bioavailability, circulation time, and treatment efficacy. Nanocarrier-based systems have demonstrated success in protecting nucleic acids from degradation, improving BBB penetration, and delivering genetic material to target specific brain areas. Exosomes and artificial vesicles also hold promise for their size and biocompatibility. Gold nanoparticles are gaining attention for their neuroprotective and anti-inflammatory properties, particularly in treating Alzheimer's, Parkinson's, and stroke. These systems can modify gene expression and address the underlying mechanisms of these diseases. In addition to drug delivery, noninvasive strategies like intranasal administration are being explored to enhance patient adherence. However, challenges remain, including regulatory hurdles and the need for further research to optimize these technologies. As research advances, the synergy between materials science, bioengineering, and medicine will pave the way for more effective treatments for neurodegenerative diseases. The aim of this study is to explore the potential of functionalized NPs in overcoming the BBB and improving targeted drug delivery for the treatment of neurodegenerative diseases.

Study design: A retrospective cohort study.

Background and objective: There are no data on changes in cervical sagittal alignment and curvature after second and third surgeries in patients with multilevel cervical degenerative diseases (CDD). This study aimed to explore these changes following multiple decompression and reconstruction surgeries.

Methods: 145 patients with multilevel CDD were enrolled based on medical records extracted from 2015 to 2023. They were divided into three groups according to the number of surgeries. 63 patients underwent first decompression and reconstruction surgery (Group 1), 53 patients underwent second surgery (Group 2) and 29 patients underwent third surgery (Group 3). Clinical parameters (Japanese Orthopedic Association (JOA) score for neural functional recovery, visual analogue scale (VAS) and neck disability index (NDI) for neck pain) and radiologic parameters (T1 slope (T1S), cervical lordosis (C2-7CL), C2-7 sagittal vertical axis (C2-7SVA)) were reviewed and analyzed.

Results: The mean period between final surgery and last follow-up was more than 12 months. There were significant differences among 3 groups in terms of operation time, blood loss and hospital stay (P < 0.001). Functional scores changed significantly after decompression surgeries (P < 0.001) in 3 groups. Radiographic parameters increased after surgery in group 1 (P < 0.001), while C2-7CL and T1S decreased after second and third surgery in group 2 and group 3 (P < 0.001). Comparing with group 1, there were significant differences showed in terms of C2-7CL, T1S, NDI and VAS in group 2 and group 3 (P < 0.05), NDI and VAS were significantly larger in group3 compare with group 2 (P < 0.05).

Conclusion: Multiple surgeries may exacerbate cervical lordosis loss and increase axial pain, necessitating cautious surgical planning for multilevel CDD.

Background: Understanding the morphological changes and dimensions of the pituitary gland is crucial for accurate diagnosis and personalized treatment in pediatric patients. Advanced imaging techniques, such as 3D magnetic resonance imaging (MRI), enhance our ability to address knowledge gaps and improve clinical practices in pediatric endocrinology. This study aims to determine normative pituitary gland dimensions and volumes in pediatric patients at Imam Hossein Hospital in Isfahan using advanced 3D MRI protocols.

Methods: Conducted as a prospective cross-sectional study, this research focused on children under 15 years without specific conditions. A total of 412 participants were selected through simple random sampling, and data were analyzed using SPSS version 20 to rigorously assess measurements and extract insights beneficial for pediatric endocrinology.

Results: The study included participants aged 0 to 15 years, with a higher representation of boys (63.83%) compared to girls (36.17%). Significant differences were observed in height and volume based on gender and age group. Scatterplots illustrated variations in the pituitary gland's volume, width, height, and anterior-posterior diameter according to age and gender.

Conclusion: This research provides valuable insights into pediatric endocrinology, facilitating accurate diagnosis and treatment of pituitary disorders in children.

Neurodegenerative diseases, such as Alzheimer's, Parkinson's, and Lewy body dementia, are associated with the accumulation of brain proteins, leading to neuroinflammation, disruption of cellular clearance mechanisms, and neuronal death. Nuclear medicine, utilizing technologies like PET and SPECT, plays a crucial role in diagnosing and managing these disorders. Recent advancements in nuclear medicine have enhanced the understanding of disease pathophysiology and facilitated the development of tailored therapeutics. This study aims to address gaps in understanding nuclear medicine's potential to improve early diagnosis, monitor disease progression, and evaluate therapeutic effectiveness. In this review, we analyzed 28 papers and summarized their findings. PET radioligands have revolutionized the in vivo measurement of pathological targets in neurological diseases, offering new insights into the pathophysiology of neurodegenerative conditions. Amyloid PET has emerged as a reliable diagnostic imaging tool, accurately identifying cerebral amyloid-beta accumulation and enabling early differential diagnosis in clinical settings. Furthermore, radiopharmaceuticals such as [18F]Flortaucipir, [18F]FDOPA, and TSPO ligands provide significant advancements in the diagnosis and treatment of neurodegenerative disorders.