Monitoring Escherichia coli in Water through Real-Time Loop-Mediated Isothermal Amplification on Biochips.

Access to clean water is fundamental to public health and safety, serving as the cornerstone of well-being in communities. Despite the significant investments of millions of dollars in water testing and treatment processes, the United States continues to grapple with over 7 million waterborne-related cases annually. This persistent challenge underscores the pressing need for the development of a new, efficient, rapid, low-cost, and reliable method for ensuring water quality. The urgency of this endeavor cannot be overstated, as it holds the potential to safeguard countless lives and mitigate the pervasive risks associated with contaminated water sources. In this study, we introduce a biochip LAMP assay tailored for water source monitoring. Our method swiftly detects even extremely low concentrations of Escherichia coli (E. coli) in water, and 10 copies/µL of E. coli aqueous solution could yield positive results within 15 min on a PC-MEDA biochip. This innovation marks a significant departure from the current reliance on lab-dependent methods, which typically necessitate several days for bacterial culture and colony counting. Our multifunctional biochip system not only enables the real-time LAMP testing of crude E. coli samples but also holds promise for future modifications to facilitate on-site usage, thereby revolutionizing water quality assessment and ensuring rapid responses to potential contamination events.

Clinical outcome of ampicillin or ampicillin/sulbactam versus glycopeptides in ampicillin-susceptible Enterococcus faecalis/faecium bacteremia: a 10-year retrospective cohort study.

BACKGROUND: Glycopeptides for ampicillin-susceptible Enterococcus faecalis/faecium bacteremia are readily prescribed depending on the severity of the condition. However, there is limited data on the outcomes of glycopeptide use compared to ampicillin-containing regimens for ampicillin-susceptible E. faecalis/faecium bacteremia. From an antibiotic stewardship perspective, it is important to determine whether the use of glycopeptides is associated with improved clinical outcomes in patients with ampicillin-susceptible E. faecalis/faecium bacteremia. METHODS: This retrospective cohort study was conducted at a university-affiliated hospital between January 2010 and September 2019. We collected data from patients with positive blood cultures for Enterococcus species isolates. The clinical data of patients who received ampicillin-containing regimens or glycopeptides as definitive therapy for ampicillin-susceptible E. faecalis/faecium bacteremia were reviewed. Multivariate logistic regression analysis was performed to identify risk factors for 28-day mortality. RESULTS: Ampicillin-susceptible E. faecalis/faecium accounted for 41.2% (557/1,353) of enterococcal bacteremia cases during the study period. A total of 127 patients who received ampicillin-containing regimens (N = 56) or glycopeptides (N = 71) as definitive therapy were included in the analysis. The 28-day mortality rate was higher in patients treated with glycopeptides (19.7%) than in those treated with ampicillin-containing regimens (3.6%) (p = 0.006). However, in the multivariate model, antibiotic choice was not an independent predictor of 28-day mortality (adjusted OR, 3.7; 95% CI, 0.6-23.6). CONCLUSIONS: Glycopeptide use was not associated with improved mortality in patients with ampicillin-susceptible E. faecalis/faecium bacteremia. This study provides insights to reduce the inappropriate use of glycopeptides in ampicillin-susceptible E. faecalis/faecium bacteremia treatment and promote antimicrobial stewardship.

Feasibility of deep learning algorithm in diagnosing lumbar central canal stenosis using abdominal CT.

OBJECTIVE: To develop a deep learning algorithm for diagnosing lumbar central canal stenosis (LCCS) using abdominal CT (ACT) and lumbar spine CT (LCT). MATERIALS AND METHODS: This retrospective study involved 109 patients undergoing LCTs and ACTs between January 2014 and July 2021. The dural sac on CT images was manually segmented and classified as normal or stenosed (dural sac cross-sectional area ≥ 100 mm2 or < 100 mm2, respectively). A deep learning model based on U-Net architecture was developed to automatically segment the dural sac and classify the central canal stenosis. The classification performance of the model was compared on a testing set (990 images from 9 patients). The accuracy, sensitivity, and specificity of automatic segmentation were quantitatively evaluated by comparing its Dice similarity coefficient (DSC) and intraclass correlation coefficient (ICC) with those of manual segmentation. RESULTS: In total, 990 CT images from nine patients (mean age ± standard deviation, 77 ± 7 years; six men) were evaluated. The algorithm achieved high segmentation performance with a DSC of 0.85 ± 0.10 and ICC of 0.82 (95% confidence interval [CI]: 0.80,0.85). The ICC between ACTs and LCTs on the deep learning algorithm was 0.89 (95%CI: 0.87,0.91). The accuracy of the algorithm in diagnosing LCCS with dichotomous classification was 84%(95%CI: 0.82,0.86). In dataset analysis, the accuracy of ACTs and LCTs was 85%(95%CI: 0.82,0.88) and 83%(95%CI: 0.79,0.86), respectively. The model showed better accuracy for ACT than LCT. CONCLUSION: The deep learning algorithm automatically diagnosed LCCS on LCTs and ACTs. ACT had a diagnostic performance for LCCS comparable to that of LCT.

Clinical and MR Predictors of Retro-Odontoid Pseudotumor Regression Following Posterior Fixation in Patients with Atlantoaxial Instability.

Purpose: To identify clinical and MR predictors of retro-odontoid pseudotumor (ROP) regression after posterior fixation in patients with atlantoaxial instability. Materials and Methods: We included patients who had undergone posterior fixation for atlantoaxial instability and preoperative and postoperative MR imaging. Patients were classified into two groups according to the degree of ROP regression after posterior fixation: regression (≥ 10% reduction) and no regression (< 10% reduction). Mann-Whitney and Fisher's exact tests were performed to identify the clinical (age and sex) and MR predictors (preoperative ROP thickness, ROP type, MR signal homogeneity of the ROP, spinal cord signal change, spinal cord atrophy, ossified posterior longitudinal ligament, os odontoideum, and atlantodental interval) associated with ROP regression. Results: We retrospectively assessed 11 consecutive patients (7 female; median age, 66 years [range, 31-84 years]). Posterior fixation induced ROP regression in eight (72.7%) patients. Older age and greater preoperative ROP thickness significantly correlated with ROP regression (p = 0.024 and 0.012, respectively). All patients with preoperative ROP thickness > 5 mm exhibited ROP regression. The other variables were not significantly associated with ROP regression. Conclusion: Older age and thicker preoperative ROP are associated with ROP regression after posterior fixation in patients with atlantoaxial instability.

Exploring Industry Payments to Urology Residents: A Longitudinal Analysis Under the Sunshine Act.

OBJECTIVE: To explore the financial interactions between urology residents and the healthcare industry over a 5-year training period, assessing the implications of these interactions on medical education and practice considering the Physician Payments Sunshine Act. DESIGN: Longitudinal analysis of Open Payments data for a single class of urology residents from 2018 to 2023. SETTING: Data were extracted from the CMS Open Payments Database and cross-referenced with residency program information from the American Urological Association (AUA) and the Accreditation Council for Graduate Medical Education (ACGME). PARTICIPANTS: A cohort of 314 urology residents were identified to have matched in 2018, with 173 residents having reported financial interactions through the Open Payments Program (OPP), representing 55% of the cohort. RESULTS: Analysis revealed that $129,632 was disbursed to the 173 residents throughout their surgical training, with a significant majority (approximately three-quarters or around $100,000) allocated for food and beverage. A statistically significant difference in payment amounts was observed between genders, with male residents receiving an average of $869 compared to $454 for female residents. Payments increased progressively with each postgraduate year (PGY) level, peaking in the fifth year. Despite notable disparities in compensation across AUA sections, no statistically significant variation was found (p = 0.21). The study also highlighted the underestimation of industry influence due to discretionary and heterogeneous reporting practices. CONCLUSIONS: The study underscores a significant, yet potentially underreported, financial interaction between urology residents and the healthcare industry, suggesting a deepening relationship as residents progress through their training. The findings call for a more uniform reporting system to enhance transparency and provide a clearer understanding of the industry's role in medical education and practice. Additionally, many residents may not be aware that their financial interactions are being documented and made public, a factor that could influence their professional behavior and expectations.

The Relationship between Cyber Violence and Cyber Sex Crimes: Understanding the Perception of Cyber Sex Crimes as Systemic Issues.

This study examines the relationship between cyber violence and cyber sex crimes, specifically focusing on these crimes as systemic issues among adolescents. The research highlights the severe impact of cyber sex crimes, characterized by the non-consensual sharing of sexually explicit content. It examines various factors that may contribute to witnessing cyber sex crimes, including exposure to violent online content, personal experiences of cyber violence (either as a victim or perpetrator), and the role of parental and teacher interventions. Utilizing data from a nationwide survey conducted by the Korea Communications Commission, the study analyzes responses from 9016 adolescents in 2021 and 9693 in 2022. This analysis reveals significant predictors of witnessing cyber sex crimes and examines how perceptions of cyber violence and interventions of authoritative figures may influence adolescents' perception of cyber sex crimes as either systemic or individual issues. With females disproportionately affected, the findings underscore a gendered aspect of cyber violence. Furthermore, these insights suggest that perceiving cyber violence as a serious issue leads to viewing cyber sex crimes as systemic problems necessitating societal intervention. The study advocates for enhanced digital literacy education and systemic changes to protect adolescents from the widespread threats of cyber violence and sex crimes.

TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.

Primary congenital glaucoma (PCG) is one of the leading causes of visual damage and blindness, severely affecting the quality of life of affected children. It is characterized by cupping of the optic disc and loss of ganglion cells due to elevated intraocular pressure. While most PCG patients exhibit epiphora, photophobia, and buphthalmos with corneal opacity, variability in phenotypic manifestations is not uncommon. Prompt diagnosis and treatment of PCG affected individuals becomes relevant to preserve visual function throughout their lives. Most PCG cases are sporadic or autosomal recessive; however, an incompletely dominant autosomal dominant form arising from mutations in the TEK gene has recently been demonstrated. Here, we describe the clinical and mutational features of a cohort of Mexican patients with TEK-related PCG. Our results support the involvement of the TEK gene as an important cause of the disease in our ethnic group and expand the mutational spectrum causing PCG by reporting 10 novel disease-causing variants.

Androgen aggravates aortic aneurysms via suppression of PD-1 in mice.

Androgen has long been recognized for its pivotal role in the sexual dimorphism of cardiovascular diseases, including aortic aneurysms (AAs), a devastating vascular disease with a higher prevalence and fatality rate in men than in women. However, the mechanism by which androgen mediates AAs is largely unknown. Here, we found that male, not female, mice developed AAs when exposed to aldosterone and high salt (Aldo-salt). We revealed that androgen and androgen receptors (ARs) were crucial for this sexually dimorphic response to Aldo-salt. We identified programmed cell death protein 1 (PD-1), an immune checkpoint, as a key link between androgen and AAs. Furthermore, we demonstrated that administration of anti-PD-1 Ab and adoptive PD-1-deficient T cell transfer reinstated Aldo-salt-induced AAs in orchiectomized mice and that genetic deletion of PD-1 exacerbated AAs induced by a high-fat diet and angiotensin II (Ang II) in nonorchiectomized mice. Mechanistically, we discovered that the AR bound to the PD-1 promoter to suppress the expression of PD-1 in the spleen. Thus, our study unveils a mechanism by which androgen aggravates AAs by suppressing PD-1 expression in T cells. Moreover, our study suggests that some patients with cancer might benefit from screenings for AAs during immune checkpoint therapy.

Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.

CONTEXT: The pituitary gland is key for childhood growth, puberty, and metabolism. Pituitary dysfunction is associated with a spectrum of phenotypes, from mild to severe. Congenital Hypopituitarism (CH) is the most commonly reported pediatric endocrine dysfunction with an incidence of 1:4000, yet low rates of genetic diagnosis have been reported. OBJECTIVE: We aimed to unveil the genetic etiology of CH in a large cohort of patients from Argentina. METHODS: We performed whole exome sequencing of 137 unrelated cases of CH, the largest cohort examined with this method to date. RESULTS: Of the 137 cases, 19.1% and 16% carried pathogenic or likely pathogenic variants in known and new genes, respectively, while 28.2% carried variants of uncertain significance. This high yield was achieved through the integration of broad gene panels (genes described in animal models and/or other disorders), an unbiased candidate gene screen with a new bioinformatics pipeline (including genes high loss of function intolerance), and analysis of copy number variants. Three novel findings emerged. First, the most prevalent affected gene encodes the cell adhesion factor ROBO1. Affected children had a spectrum of phenotypes, consistent with a role beyond pituitary stalk interruption syndrome. Second, we found that CHD7 mutations also produce a phenotypic spectrum, not always associated with full CHARGE syndrome. Third, we add new evidence of pathogenicity in the genes PIBF1 and TBC1D32, and report 13 novel candidate genes associated with CH (e.g. PTPN6, ARID5B). CONCLUSION: Overall, these results provide an unprecedented insight into the diverse genetic etiology of hypopituitarism.

Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.

Background and Objectives: Exome sequencing (ES) demonstrates a 20-50 percent diagnostic yield for patients with a suspected monogenic neurologic disease. Despite the proven efficacy in achieving a diagnosis for such patients, multiple barriers for obtaining exome sequencing remain. This study set out to assess the efficacy of ES in patients with primary neurologic phenotypes who were appropriate candidates for testing but had been unable to pursue clinical testing. Methods: A total of 297 patients were identified from the UCLA Clinical Neurogenomics Research Center Biobank, and ES was performed, including bioinformatic assessment of copy number variation and repeat expansions. Information regarding demographics, clinical indication for ES, and reason for not pursuing ES clinically were recorded. To assess diagnostic efficacy, variants were interpreted by a multidisciplinary team of clinicians, bioinformaticians, and genetic counselors in accordance with the American College of Medical Genetics and Genomics variant classification guidelines. We next examined the specific barriers to testing for these patients, including how frequently insurance-related barriers such as coverage denials and inadequate coverage of cost were obstacles to pursuing exome sequencing. Results: The cohort primarily consisted of patients with sporadic conditions (n = 126, 42.4%) of adult-onset (n = 239, 80.5%). Cerebellar ataxia (n = 225, 75.8%) was the most common presenting neurologic phenotype. Our study found that in this population of mostly adult patients with primary neurologic phenotypes that were unable to pursue exome sequencing clinically, 47 (15.8%) had diagnostic results while an additional 24 patients (8.1%) had uncertain results. Of the 297 patients, 206 were initially recommended for clinical exome but 88 (42.7%) could not pursue ES because of insurance barriers, of whom 14 (15.9%) had diagnostic findings, representing 29.8% of all patients with diagnostic findings. In addition, the incorporation of bioinformatic repeat expansion testing was valuable, identifying a total of 8 pathogenic repeat expansions (17.0% of all diagnostic findings) including 3 of the common spinocerebellar ataxias and 2 patients with Huntington disease. Discussion: These findings underscore the importance and value of clinical ES as a diagnostic tool for neurogenetic disease and highlight key barriers that prevent patients from receiving important clinical information with potential treatment and psychosocial implications for patients and family members.

Open or robotic? Radical cystectomies for patients with non-metastatic bladder cancer: A systematic review and meta-analysis.

Background: This systematic review and meta-analysis will review randomized control trials for localized bladder cancer, evaluating surgical and pathologic outcomes of ORC versus RARC. Methods: Randomized studies evaluating adults with non-metastatic bladder cancer who underwent a radical cystectomy. Randomized trials were selected for final review. Data was extracted and analyzed with Revman 5 software. The primary outcome was complication rates within 90 days. Secondary outcomes included postoperative quality of life, estimated intraoperative blood loss, and other perioperative outcomes. Continuous variables were reported using mean difference with 95% confidence intervals, and dichotomous variables were reported using risk difference with 95% confidence intervals with RARC as the experimental group and ORC as the reference group. Results: Of 134 articles screened, six unique randomized studies were selected. For Grade I-II complications, the risk ratio (RR) was 0.92 (95% CI [0.79,1.08], p = 0.33), and for Grade III-V complications, RR 0.93 (95% CI [0.73,1.18], p = 0.59). RARC resulted in decreased blood loss (95% CI [-438.08, -158.44], p < 0.00001) and longer operative time (95% CI [55.23, 133.13], p < 0.00001). Quality of life using the EORTC-QLQ-30 global health score at 3 months post-op appeared to favor RARC with a mean difference of 4.46 points (95% CI [1.78, 7.15], p = 0.001). Pathologic outcomes neither statistically nor clinically favored one modality, as there was no significant difference between mean lymph node yield (p = 0.49), positive lymph nodes (p = 1.00), and positive surgical margins (p = 0.85) between the surgical modalities. Conclusions: Although one surgical modality is not overtly superior, the choice may be decided by mitigating individual operative risk factors like intraoperative blood loss, operative time, post-operative quality of life, as well as institutional costs and learning curve among surgeons.

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients remain genetically undiagnosed despite screening for known genetic causes of HSP. Therefore, identification of novel variants and genes is needed. Our previous study analyzed 74 adult Serbian HSP patients from 65 families using panel of the 13 most common HSP genes in combination with a copy number variation analysis. Conclusive genetic findings were established in 23 patients from 19 families (29%). In the present study, nine patients from nine families previously negative on the HSP gene panel were selected for the whole exome sequencing (WES). Further, 44 newly diagnosed adult HSP patients from 44 families were sent to WES directly, since many studies showed WES may be used as the first step in HSP diagnosis. WES analysis of cohort 1 revealed a likely genetic cause in five (56%) of nine HSP families, including variants in the ETHE1, ZFYVE26, RNF170, CAPN1, and WASHC5 genes. In cohort 2, possible causative variants were found in seven (16%) of 44 patients (later updated to 27% when other diagnosis were excluded), comprising six different genes: SPAST, SPG11, WASCH5, KIF1A, KIF5A, and ABCD1. These results expand the genetic spectrum of HSP patients in Serbia and the region with implications for molecular genetic diagnosis and future causative therapies. Wide HSP panel can be the first step in diagnosis, alongside with the copy number variation (CNV) analysis, while WES should be performed after.

The Impact of COVID-19 and Exposure to Violent Media Content on Cyber Violence Victimization Among Adolescents in South Korea: National Population-Based Study.

BACKGROUND: Because of the COVID-19 pandemic and consequent stay-at-home mandates, adolescents faced isolation and a decline in mental health. With increased online activity during this period, concerns arose regarding exposure to violent media content and cyber victimization among adolescents. Yet, the precise influence of pandemic-related measures on experiences of cyber violence remains unclear. Hence, it is pertinent to investigate whether the pandemic altered the dynamics of cyber violence victimization for individuals. OBJECTIVE: This study aims to investigate the effects of COVID-19 and exposure to violent media content on cyber violence victimization among adolescents in South Korea. METHODS: We used national survey data from 2019 (n=4779) and 2020 (n=4958) to investigate the potential impact of COVID-19 on the prevalence of cyber violence among young adolescents. The data encompassed responses from elementary fourth-grade students to senior high school students, probing their exposure to violent media content, average internet use, as well as experiences of victimization and perpetration. RESULTS: The analysis revealed a noteworthy decline in cyber victimization during 2020 compared with 2019 (B=-0.12, t=-3.45, P<.001). Furthermore, being a perpetrator significantly contributed to cyber victimization (B=0.57, t=48.36, P<.001). Additionally, younger adolescents (ß=-.06, t=-6.09, P<.001), those spending more time online (ß=.18, t=13.83, P<.001), and those exposed to violent media (ß=.14, t=13.89, P<.001) were found to be more susceptible to victimization. CONCLUSIONS: Despite the widespread belief that cyber violence among adolescents surged during COVID-19 due to increased online activity, the study findings counter this assumption. Surprisingly, COVID-19 did not exacerbate cyber victimization; rather, it decreased it. Given the strong correlation between cyber victimization and offline victimization, our attention should be directed toward implementing real-life interventions aimed at curbing violence originating from in-person violence at school.

Automated Detection and Segmentation of Bone Metastases on Spine MRI Using U-Net: A Multicenter Study.

OBJECTIVE: To develop and evaluate a deep learning model for automated segmentation and detection of bone metastasis on spinal MRI. MATERIALS AND METHODS: We included whole spine MRI scans of adult patients with bone metastasis: 662 MRI series from 302 patients (63.5 ± 11.5 years; male:female, 151:151) from three study centers obtained between January 2015 and August 2021 for training and internal testing (random split into 536 and 126 series, respectively) and 49 MRI series from 20 patients (65.9 ± 11.5 years; male:female, 11:9) from another center obtained between January 2018 and August 2020 for external testing. Three sagittal MRI sequences, including non-contrast T1-weighted image (T1), contrast-enhanced T1-weighted Dixon fat-only image (FO), and contrast-enhanced fat-suppressed T1-weighted image (CE), were used. Seven models trained using the 2D and 3D U-Nets were developed with different combinations (T1, FO, CE, T1 + FO, T1 + CE, FO + CE, and T1 + FO + CE). The segmentation performance was evaluated using Dice coefficient, pixel-wise recall, and pixel-wise precision. The detection performance was analyzed using per-lesion sensitivity and a free-response receiver operating characteristic curve. The performance of the model was compared with that of five radiologists using the external test set. RESULTS: The 2D U-Net T1 + CE model exhibited superior segmentation performance in the external test compared to the other models, with a Dice coefficient of 0.699 and pixel-wise recall of 0.653. The T1 + CE model achieved per-lesion sensitivities of 0.828 (497/600) and 0.857 (150/175) for metastases in the internal and external tests, respectively. The radiologists demonstrated a mean per-lesion sensitivity of 0.746 and a mean per-lesion positive predictive value of 0.701 in the external test. CONCLUSION: The deep learning models proposed for automated segmentation and detection of bone metastases on spinal MRI demonstrated high diagnostic performance.

Assessing visibility and bone changes of spinal metastases in CT scans: a comprehensive analysis across diverse cancer types.

OBJECTIVES: To analyze the characteristics of spinal metastasis in CT scans across diverse cancers for effective diagnosis and treatment, using MRI as the gold standard. METHODS: A retrospective study of 309 patients from four centers, who underwent concurrent CT and spinal MRI, revealing spinal metastasis, was conducted. Data on metastasis including total number, volume, visibility on CT (visible, indeterminate, or invisible), and type of bone change were collected. Through chi-square and Mann-Whitney U tests, we characterized the metastasis across diverse cancers and investigated the variation in the intra-individual ratio representing the percentage of lesions within each category for each patient. RESULTS: Out of 3333 spinal metastases from 309 patients, 55% were visible, 21% indeterminate, and 24% invisible. Sclerotic and lytic lesions made up 47% and 43% of the visible and indeterminate categories, respectively. Renal cell carcinoma (RCC), prostate cancer, and hepatocellular carcinoma (HCC) had the highest visibility at 86%, 73%, and 67% (p < 0.0001, p < 0.0001, and p = 0.003), while pancreatic cancer was lowest at 29% (p < 0.0001). RCC and HCC had significantly high lytic metastasis ratios (interquartile range (IQR) 0.96-1.0 and 0.31-1.0, p < 0.001 and p = 0.005). Prostate cancer exhibited a high sclerotic lesion ratio (IQR 0.52-0.97, p < 0.001). About 39% of individuals had invisible or indeterminate lesions, even with a single visible lesion on CT. The intra-individual ratio for indeterminate and invisible metastases surpassed 18%, regardless of the maximal size of the visible metastasis. CONCLUSIONS: This study highlights the variability in characteristics of spinal metastasis based on the primary cancer type through unique lesion-centric analysis.

Neurosarcoidosis involving cervical nerve root with unusual MRI findings: a case report and systematic literature review.

BACKGROUND: Neurosarcoidosis is rare, and among its manifestations, nerve root involvement has been reported in only a few cases. Therefore, magnetic resonance imaging (MRI) findings of neurosarcoidosis, particularly those involving nerve roots, are scarce in the literature. METHODS: We presented the case of neurosarcoidosis involving cervical nerve roots and cranial nerves, alongside a systematic literature review. RESULTS: A 28-year-old female suddenly developed right facial numbness as well as left upper extremity and left hand pain. Initial brain and spine MRI showed a bulging mass of T2 iso-to-high signal intensity in the left Meckel's cave/trigeminal nerve, as well as diffuse enlargement of the right C6 and C7 nerve roots. Follow-up MRI at 2 months revealed a reduction in the size of the initial lesion and the appearance of new similar lesions on the contralateral side (right Meckel's cave, left C3-C8 nerve roots). In particular, the lesions involving the nerve roots demonstrated central enlargement along the nerve roots, without involvement of the adjacent spinal cord. All these lesions exhibited enhancement, leading to the differentiation between sarcoidosis and lymphoma. Sarcoidosis was subsequently confirmed through biopsy of a hilar lymph node. CONCLUSIONS: This report presents a distinctive MRI feature of neurosarcoidosis involving spinal nerve roots, representing the first of its kind, and describes the evolution of MRI findings throughout the clinical course.

[Lumbar Facet Joint Injection: A Review of Efficacy and Safety]. / 요추 í›„ê´€ì ˆ 주사: ìž„ìƒì  ìœ ìš©ì„±ê³¼ ì•ˆì „ì„±ì— 대한 ê³ ì°°.

Facet joint arthrosis is a progressive degenerative disease that is frequently associated with other spinal degenerative disorders such as degenerative disc disease or spinal stenosis. Lumbar facet joint arthrosis can induce pain in the proximal lower extremities. However, symptoms and imaging findings of "facet joint syndrome" are not specific as they mimic the pain from herniated discs or nerve root compression. Currently, evidence for therapeutic intra-articular lumbar facet joint injections is still considered low, with a weak recommendation strength. Nevertheless, some studies have reported therapeutic effectiveness of facet joint injections. Moreover, the use of therapeutic facet joint injections in clinical practice has increased. This review article includes opinions based on the authors' experience with facet joint injections. This review primarily aimed to investigate the efficacy of lumbar facet joint injections and consider their associated safety aspects.

[Imaging of Sequestered Lumbar Discs]. / 요추 분리추간판의 영상 소견.

Intervertebral disc herniation is frequently encountered in radiological practice. Sequestered disc herniation occurs when the disc material undergoes degeneration and completely loses continuity with the parent nucleus pulposus. Sequestered discs can reside within and outside the spinal canal, exerting a mass effect on adjacent structures, compressing nerve pathways, and eliciting a range of clinical symptoms. In particular, sequestered discs within the dura cannot be identified without durotomy. Therefore, precise preoperative localization is crucial for surgical planning. On MRI, the signal intensity of the sequestered disc may vary due to independent degeneration processes. Additionally, most sequestered disc fragments show varying degrees of peripheral enhancement depending on the degree of angiogenesis and granulation around the isolated tissue. In this article, we review various imaging findings and the location of the sequestered disc to provide patients with an accurate diagnosis and appropriate treatment direction.

Persistent enhancement of basolateral amygdala-dorsomedial striatum synapses causes compulsive-like behaviors in mice.

Compulsive behaviors are observed in a range of psychiatric disorders, however the neural substrates underlying the behaviors are not clearly defined. Here we show that the basolateral amygdala-dorsomedial striatum (BLA-DMS) circuit activation leads to the manifestation of compulsive-like behaviors. We revealed that the BLA neurons projecting to the DMS, mainly onto dopamine D1 receptor-expressing neurons, largely overlap with the neuronal population that responds to aversive predator stress, a widely used anxiogenic stressor. Specific optogenetic activation of the BLA-DMS circuit induced a strong anxiety response followed by compulsive grooming. Furthermore, we developed a mouse model for compulsivity displaying a wide spectrum of compulsive-like behaviors by chronically activating the BLA-DMS circuit. In these mice, persistent molecular changes at the BLA-DMS synapses observed were causally related to the compulsive-like phenotypes. Together, our study demonstrates the involvement of the BLA-DMS circuit in the emergence of enduring compulsive-like behaviors via its persistent synaptic changes.

Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.

BACKGROUND: Oculocutaneous albinism (OCA) is a group of skin depigmentation disorders. Clinical presentation of OCA includes defects in melanocyte differentiation, melanin biosynthesis, and melanosome maturation and transport. OBJECTIVES: A molecular diagnostics study of families presenting oculocutaneous albinism. METHODS: In this study, 17 consanguineous OCA families consisting of 93 patients were investigated. Whole Exome Sequencing (WES) of the index patient in each family were performed. Short listed variants of WES were Sanger validated for Mendelian segregation in obligate carriers and other available family members. Variant prioritization and pathogenicity were classified as per the criteria of American College Medical Genetics and Genomics (ACMG). Comparative computational modelling was performed to predict the potential damaging effect of the altered proteins. RESULTS: 15 pathogenic variations: c.132 T > A, c.346C > T, c.488C > G, c.1037G > A in TYR, c.1211C > T, c.1441G > A, c.1706_1707insT, c.2020C > G, c.2402G > C, c.2430del, in OCA2, c.1067G > A in TYRP1 and c.451C > T, c.515G > T, c.766C > T, c.917G > A in MC1R genes were identified. Three variants in OCA2 gene were characterized: c.1706_1707insT, c.2430del, and c.2402G > C, all of which were not reported before in OCA families. CONCLUSION: A few studies focusing on mutation screening of OCA patients have been reported before; however, this study has uniquely presents the Pakhtun ethnic population residing on the North-Western boarder. It explains that TYR, OCA2, TYRP1, and MC1R variations lead to non-syndromic OCA phenotype The overlapping phenotypes of OCA can precisely be diagnosed for its molecular pathogenicity using WES. This study recommends WES as a first-line molecular diagnostic tool, and provides a basis for developing customized genetic tests i.e. pre-marital screening to reduce the disease burden in the future generations.