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Cureus May 2024Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is a rare autosomal recessive genetic disorder caused by a homozygous mutation of the ACP5 gene....
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is a rare autosomal recessive genetic disorder caused by a homozygous mutation of the ACP5 gene. Spondyloenchondrodysplasia is a type of immune-osseous dysplasia manifesting with skeletal dysplasia, immunologic dysfunction, and neurological manifestations. We report the case of a six-year-old boy with SPENCDI who presented with post-viral illness Coombs-positive hemolytic anemia, thrombocytopenia, and fever, based on which he was diagnosed with Evans syndrome. He was previously diagnosed with spastic diplegia, short stature, and celiac disease. The diagnosis was confirmed with genetic testing which displayed a homozygous frameshift mutation of the ACP5 gene c.549del p.(Gln184Serfs*28). This case report discusses the clinical presentation of SPENCDI and highlights the importance of considering this rare genetic disorder in patients presenting with short stature, immunologic dysregulation, and neurological involvement.
PubMed: 38883133
DOI: 10.7759/cureus.60314 -
Cureus May 2024Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by optic nerve hypoplasia, brain midline structure anomalies, and hypothalamic-pituitary axis...
Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by optic nerve hypoplasia, brain midline structure anomalies, and hypothalamic-pituitary axis hypoplasia. This case report aims to highlight the association between SOD and neurodevelopmental disorders, focusing on attention-deficit/hyperactivity disorder (ADHD) in addition to the well-established link with autism spectrum disorder (ASD). A six-year-old male diagnosed with SOD presented with behavioral concerns, including attention and impulse control issues. A comprehensive psychological evaluation confirmed the diagnosis of ADHD and ruled out ASD. Ophthalmological assessments were integral to understanding the patient's condition. This case underscores the importance of recognizing neurodevelopmental disorders in individuals with SOD, with a particular focus on the less common association with ADHD. The co-occurrence of these conditions underscores the complexity of neurodevelopmental disorders and the need for comprehensive evaluation and management. Collaboration between ophthalmologists and mental health specialists is crucial for addressing the diverse needs of these patients. Early identification and intervention for ADHD are essential for optimal developmental outcomes. This case underscores the necessity for further research to elucidate the relationship between SOD and ADHD, emphasizing the importance of holistic patient care and interdisciplinary collaboration in managing individuals with SOD spectrum conditions.
PubMed: 38883061
DOI: 10.7759/cureus.60441 -
Journal of Pharmacy & Bioallied Sciences Apr 2024The most significant accomplishment of dentists is the early detection of oral dysplasia or the rapid diagnosis of potentially malignant lesions. An additional test that...
The most significant accomplishment of dentists is the early detection of oral dysplasia or the rapid diagnosis of potentially malignant lesions. An additional test that assists in the diagnosis of numerous oral illnesses is exfoliative cytology. This study was conducted among dental professionals in the city of Bhubaneswar to assess their exfoliative cytology knowledge, attitudes, and practices. Fifty-eight dental interns participated in a cross-sectional, descriptive, Web-based questionnaire study. The findings reveal that while some interns were knowledgeable about some components of exfoliative cytology in oral cancer (OC) screening, they lacked a thorough understanding of other crucial elements. To enhance early diagnosis and lessen the prevalence of OC, it is critical that dental practitioners increase their understanding of and use of exfoliative cytology. To address the misconcepts found in the study, it draws attention to the necessity of patient education and public awareness campaigns. The study recommends more awareness and education among dental practitioners and emphasizes the need of tackling OC through preventive measures and appropriate diagnostic techniques such as exfoliative cytology.
PubMed: 38882891
DOI: 10.4103/jpbs.jpbs_619_23 -
Journal of Pharmacy & Bioallied Sciences Apr 2024Lichen planus (LP) is a chronic, immune-mediated mucocutaneous disorder increasingly becoming common in the general population with female predominance. Clinically,... (Review)
Review
UNLABELLED
Lichen planus (LP) is a chronic, immune-mediated mucocutaneous disorder increasingly becoming common in the general population with female predominance. Clinically, there are different forms of lichen planus with the presence of the main characteristic feature of Wickham striae. Literature, to date, is abundant with various scoring systems of oral lichen planus, and among them, the most commonly followed scoring system was the one proposed by the Thongprasom system because of its simplicity and ease of application.
AIM
The aim of the present study is to critically review all the disease scoring systems on oral lichen planus (OLP) that have been reported in the literature during the past decades. A systematic literature search was performed using PUBMED, MEDLINE, EMBASE, and COCHRANE Library with language restriction to English. The search was carried out incorporating the published literature from 1980 to 2020 using the MeSH (medical subject heading) terms. A literature search was done using keywords: Staging, Grading, Oral lichen planus, Diagnostic, and Therapeutic. Out of 25 publications, related to search strategy, 22 full articles, which were related to the disease scoring system for oral lichen planus, were acquired for further inspection. Out of the 22 articles, 15 articles met the inclusion criteria. The data was collected and a brief summary of the studies regarding the different disease scoring systems for oral lichen planus was explained. Taking into consideration, the parameters were not included in the previous disease scoring system. A new proposal encompassing a scoring system for oral lichen planus considering the missing parameters along with an amalgamation of histopathological criteria of dysplasia is presented. It also proposes to grade and stage the lesions and recommend appropriate therapy for each of such lesions.
PubMed: 38882870
DOI: 10.4103/jpbs.jpbs_1163_23 -
Journal of Pharmacy & Bioallied Sciences Apr 2024CD44 and SALL4 are markers of stemness and expressed in cancer stem cells (CSCs). Their deregulated expression was seen in various tumors and has been correlated with...
CD44 and SALL4 are markers of stemness and expressed in cancer stem cells (CSCs). Their deregulated expression was seen in various tumors and has been correlated with clinical severity. We evaluated immunohistochemical expression of CD44 and SALL4 in leukoplakia and oral squamous cell carcinoma (OSCC). CD44 was expressed in all the cases of leukoplakia and Its expression correlated with severity of the dysplasia in leukoplakia but varied with differentiation in OSCC. SALL4 did not express in leukoplakia. Its expression was varied in OSCC cases. We opine that CD44 expression is consistent with the progression of dysplasia in leukoplakia and differentiation in OSCC.
PubMed: 38882798
DOI: 10.4103/jpbs.jpbs_1178_23 -
Journal of Pharmacy & Bioallied Sciences Apr 2024Pycnodysostosis is an inherited autosomal recessive disorder characterized by dysplasia of the skeletal system. It occurs in any human races with no disparity in gender...
Pycnodysostosis is an inherited autosomal recessive disorder characterized by dysplasia of the skeletal system. It occurs in any human races with no disparity in gender or age predilection. The disease is diagnosed at a young age owing to the frequent fragile bone fractures. Craniofacial and dental manifestations may overlap with those of other craniofacial dysostosis; therefore, precise knowledge is essential in differential diagnosis as it may affect the treatment outcome. Here, we report three cases with typical clinical and radiological features, among which one presented with osteomyelitis of the mandible.
PubMed: 38882744
DOI: 10.4103/jpbs.jpbs_1203_23 -
Journal of Pharmacy & Bioallied Sciences Apr 2024Cancers arising in the oral cavity are more commonly of squamous cell carcinomas. E-cadherin is a calcium-dependant transmembrane glycoprotein of the type-1 cadherin...
BACKGROUND
Cancers arising in the oral cavity are more commonly of squamous cell carcinomas. E-cadherin is a calcium-dependant transmembrane glycoprotein of the type-1 cadherin superfamily is an invasion/tumor suppressor gene, which plays a vital role in epithelial cell-cell adhesion. Epithelial E-cadherin expression loss increases tumor invasiveness and metastasis.
AIM
To determine the expression of E-cadherin in oral epithelial dysplasia (OED) and oral squamous cell carcinoma (OSCC).
MATERIALS AND METHODS
Analysis of E-cadherin expression in 10 cases of normal mucosa, 15 cases of various grades of OED, 15 cases of OSCC.
STATISTICAL ANALYSIS
The data were calculated using Chi-square test and analysis of variance test (ANOVA).
RESULTS
An intragroup comparison of staining intensity and staining location for OED showed a highly significant difference between mild and moderate grade ( < 0.001). A significant difference of staining intensity was noted among well and moderately differentiated grades, and well and poorly differentiated grades of OSCC. A comparison of staining location among well and poorly differentiated grades of OSCC was found to be significant.
CONCLUSION
Expression loss is observed as the severity of the lesion progresses in both OSCC and OED. The increased loss of expression in oral squamous cell carcinoma poorer the prognosis.
PubMed: 38882719
DOI: 10.4103/jpbs.jpbs_38_24 -
Matrix Biology Plus Aug 2024Non-muscle invasive bladder cancer (NMIBC) patients are affected by a high risk of recurrence. The topography of collagen fibers represents a hallmark of the neoplastic...
BACKGROUND
Non-muscle invasive bladder cancer (NMIBC) patients are affected by a high risk of recurrence. The topography of collagen fibers represents a hallmark of the neoplastic extracellular microenvironment.
OBJECTIVE
Assess the topographic change associated with different stages of bladder cancer (from neoplastic lesions to tumor) and whether those changes favour the development of NMIBC.
DESIGN SETTING AND PARTICIPANTS
Seventy-one clinical samples of urothelial carcinoma at different stages were used. Topographic changes preceding tumor onset and progression were evaluated in the rat bladder cancer model induced by nitrosamine (BBN), a bladder-specific carcinogen. The preclinical model of actinic cystitis was also used in combination with BBN. Validated hematoxylin-eosin sections were used to assess the topography of collagen fibrils associated with pre-tumoral steps, NMIBC, and MIBC.
FINDINGS
Linearization of collagen fibers was higher in Cis and Ta vs. dysplastic urothelium, further increased in T1 and greatest in T2 tumors. In the BBN preclinical model, an increase in the linearization of collagen fibers was established since the beginning of inflammation, such as the onset of atypia of a non-univocal nature and dysplasia, and further increased in the presence of the tumor. Linearization of collagen fibers in the model of actinic cystitis was associated with earlier onset of BBN-induced tumor.
CONCLUSIONS
The topographic modification of the extracellular microenvironment occurs during the inflammatory processes preceding and favoring the onset of bladder cancer. The topographic reconfiguration of the stroma could represent a marker for identifying and treating the non-neoplastic tissue susceptible to tumor recurrence.
PubMed: 38882394
DOI: 10.1016/j.mbplus.2024.100154 -
Gastroenterology Research and Practice 2024Diagnostic ability of sessile serrated lesions (SSL) and SSL with dysplasia (SSLD) using blue laser/light imaging (BLI) has not been well examined. We analyzed the...
OBJECTIVES
Diagnostic ability of sessile serrated lesions (SSL) and SSL with dysplasia (SSLD) using blue laser/light imaging (BLI) has not been well examined. We analyzed the diagnostic accuracy of BLI for SSL and SSLD using several endoscopic findings compared to those of narrow band imaging (NBI).
MATERIALS AND METHODS
This was a subgroup analysis of prospective studies. 476 suspiciously serrated lesions of ≥2 mm on the proximal colon showing serrated change with magnified NBI or BLI in our institution between 2014 and 2021 were examined histopathologically. After propensity score matching, we evaluated the diagnostic ability of SSL and SSLD of the NBI and BLI groups regarding various endoscopic findings. For WLI findings, granule, depression, and reddish were examined for diagnosing SSLD. For NBI/BLI findings, expanded crypt opening (ECO) or thick and branched vessels (TBV) were examined for diagnosing SSL. Network vessels (NV) and white dendritic change (WDC) defined originally were examined for diagnosing SSLD.
RESULTS
Among matched 176 lesions, the sensitivity of lesions with either ECO or TBV for SSL in the NBI/BLI group was 97.5%/98.5% ( = 0.668). Those with either WDC or NV for diagnosing SSLD in the groups were 81.0%/88.9% ( = 0.667). Regarding the rates of endoscopic findings among 30 SSLD and 290 SSL, there were significant differences in WDC (66.4% vs. 8.6%, < 0.001), NV (55.3% vs. 1.4%, < 0.001), and either WDC or NV (86.8% vs. 9.0%, < 0.001).
CONCLUSIONS
The diagnostic ability of BLI for SSL and SSLD was not different from NBI. NV and WDC were useful for diagnosing SSLD.
PubMed: 38882393
DOI: 10.1155/2024/2672289 -
Orthopaedic Journal of Sports Medicine Jun 2024Medial patellar facet lesions have been well-described in the setting of patellar instability. However, relatively little is known about risk factors for atraumatic...
BACKGROUND
Medial patellar facet lesions have been well-described in the setting of patellar instability. However, relatively little is known about risk factors for atraumatic medial patellar facet lesions.
PURPOSE/HYPOTHESIS
To identify clinical and radiographic risk factors for medial patellar facet lesions in patients without a history of trauma or patellar instability. It was hypothesized that a posterior tibial tubercle relative to the trochlear groove would be a risk factor for atraumatic medial patellar facet lesions.
STUDY DESIGN
Case-control study; Level of evidence, 3.
METHODS
A total of 37 patients with atraumatic medial patellar facet lesions were matched by age, sex, and body mass index with 37 control patients without a history of patellofemoral dysplasia. Demographic and imaging characteristics were compared between groups. Plain radiography was used to evaluate Wiberg type, and magnetic resonance imaging was used to calculate Caton-Deschamps index, tibial tubercle-trochlear groove distance, trochlear facet asymmetry ratio, patellotrochlear index, sulcus depth, patellar bisect ratio, and tibial tubercle height. Statistically significant variables from univariate analysis were used as inputs to the multivariate regression model to assess independent risk factors.
RESULTS
There were no differences between groups with respect to Wiberg type, Caton-Deschamps index, tibial tubercle-trochlear groove distance, sulcus depth, or patellotrochlear index ( > .05 for all). The medial facet lesion group had a larger medial trochlear facet (trochlear facet asymmetry ratio, 0.72 ± 0.11 vs 0.60 ± 0.09; < .001), a more medial-lying patella in the trochlear groove (patellar bisect ratio, 0.57 ± 0.06 vs 0.55 ± 0.07; = .035), and a more posterior tibial tubercle relative to the trochlear groove (tibial tubercle height, -3.13 ± 5.21 vs -0.23 ± 5.93 mm; = .030) compared with the control group. Multivariate regression analysis identified trochlear facet asymmetry and tibial tubercle height as independent risk factors for medial patellar facet lesions (relative risk = 97.3 [95% CI, 14.9-635.1], < .001 and relative risk = 0.95 [95% CI, 0.92-0.98], = .004, respectively).
CONCLUSION
A relatively larger medial trochlear facet and a more posterior tibial tubercle relative to the trochlear groove were found to be risk factors for medial patellar facet lesions in patients without a history of trauma or patellar instability.
PubMed: 38881850
DOI: 10.1177/23259671241255681