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Indian Dermatology Online Journal 2023Cluster of differentiation 44 (CD44) is a cell surface adhesion protein involved in the progression and metastasis of oral squamous cell carcinoma. The current study...
BACKGROUND
Cluster of differentiation 44 (CD44) is a cell surface adhesion protein involved in the progression and metastasis of oral squamous cell carcinoma. The current study aims to evaluate the expression of CD44 in oral lichen planus and related lesions and thereby assess the relative risk of malignant transformation of these lesions.
MATERIALS AND METHODS
Formalin-fixed paraffin-embedded tissue blocks of 10 oral lichen planus (Group 1), 10 oral lichenoid lesions (Group 2), 8 with oral lichen planus with dysplasia (Group 3), and 5 with lichenoid dysplasia (Group 4) were included in the study. Immunostaining was done for the tissue sections using CD44 mouse monoclonal antibody. Staining density, staining intensity, and immunoreactive scores of CD44 were evaluated in all four groups. Statistical analysis was done by Statistical Package for the Social Sciences® software and the Kruskal-Wallis test was used.
RESULTS
CD44 staining pattern of lichenoid dysplasia and lichen planus with dysplasia changed from membranous to cytoplasmic. The membranous CD44 immunoreactivity was mild with a score of 2.25 for Group 3 and 1.6 for Group 4 whereas moderate for other groups with a value of 0.009. The cytoplasmic immunoreactivity was significantly high in Group 3 (5.3 ± 2.6) followed by Group 4 (3.2 ± 1.2), Group 2 (1 ± 1.8), and Group 1 (0.7 ± 1.3) with a value of 0.001.
CONCLUSION
The CD44 membranous immunoreactivity scores were low while the cytoplasmic immunoreactivity was high in oral lichen planus with dysplasia and oral lichenoid dysplasia when compared to oral lichen planus and oral lichenoid lesions. CD44 immunostaining pattern can help in assessing the malignant transformation of oral lichen planus or lichenoid lesions.
PubMed: 37727567
DOI: 10.4103/idoj.idoj_702_22 -
Zhonghua Kou Qiang Yi Xue Za Zhi =... Aug 2023Dentin dysplasia type Ⅱ (DD-Ⅱ) is a subtype of hereditary dentin disorders. The dentin sialophosphoprotein (DSPP) gene has been revealed to be the causative gene,...
Dentin dysplasia type Ⅱ (DD-Ⅱ) is a subtype of hereditary dentin disorders. The dentin sialophosphoprotein (DSPP) gene has been revealed to be the causative gene, whose mutations could affect the normal tooth development process. The lesions involve both deciduous and permanent dentition, mainly manifested as tooth discoloration, attrition and even the subsequent malocclusion. If not treated in time, it will significantly affect the physical and psychological health of patients. The disease is difficult to be diagnosed in clinic accurately as its low incidence and hidden manifestations. The present article aims to discuss the clinical and radiographic characteristics, diagnosis, treatment of DD-Ⅱ, in order to improve the overall understanding on DD-Ⅱ for clinicians.
Topics: Humans; Dentin Dysplasia; Dentinogenesis Imperfecta; Sialoglycoproteins; Tooth; Mutation; Extracellular Matrix Proteins; Phosphoproteins; Dentin
PubMed: 37550036
DOI: 10.3760/cma.j.cn112144-20230410-00148 -
Heart Rhythm Aug 2023
Topics: Humans; Cardiomyopathies; Arrhythmogenic Right Ventricular Dysplasia
PubMed: 37247683
DOI: 10.1016/j.hrthm.2023.05.027 -
Pediatric Neurology Oct 2023Inactivating mutations in PTEN are among the most common causes of megalencephaly. Activating mutations in other nodes of the PI3K/AKT/MTOR signaling pathway are...
BACKGROUND
Inactivating mutations in PTEN are among the most common causes of megalencephaly. Activating mutations in other nodes of the PI3K/AKT/MTOR signaling pathway are recognized as a frequent cause of cortical brain malformations. Only recently has PTEN been associated with cortical malformations, and analyses of their prognostic significance have been limited.
METHODS
Retrospective neuroimaging analysis and detailed chart review were conducted on 20 participants identified with pathogenic or likely pathogenic mutations in PTEN and a cortical brain malformation present on brain magnetic resonance imaging.
RESULTS
Neuroimaging analysis revealed four main cerebral phenotypes-hemimegalencephaly, focal cortical dysplasia, polymicrogyria (PMG), and a less severe category, termed "macrocephaly with complicated gyral pattern" (MCG). Although a high proportion of participants (90%) had neurodevelopmental findings on presentation, outcomes varied and were favorable in over half of participants. Consistent with prior work, 39% of participants had autism spectrum disorder and 19% of participants with either pure-PMG or pure-MCG phenotypes had epilepsy. Megalencephaly and systemic overgrowth were common, but other systemic features of PTEN-hamartoma tumor syndrome were absent in over one-third of participants.
CONCLUSIONS
A spectrum of cortical dysplasias is present in individuals with inactivating mutations in PTEN. Future studies are needed to clarify the prognostic significance of each cerebral phenotype, but overall, we conclude that despite a high burden of neurodevelopmental disease, long-term outcomes may be favorable. Germline testing for PTEN mutations should be considered in cases of megalencephaly and cortical brain malformations even in the absence of other findings, including cognitive impairment.
Topics: Humans; Autism Spectrum Disorder; Phosphatidylinositol 3-Kinases; Retrospective Studies; Megalencephaly; Brain; Polymicrogyria; PTEN Phosphohydrolase
PubMed: 37619436
DOI: 10.1016/j.pediatrneurol.2023.06.015 -
The Journal of Maternal-fetal &... Dec 2023This was a retrospective observational study conducted in a tertiary neonatal intensive care unit, in order to investigate factors which influenced the severity of... (Observational Study)
Observational Study
OBJECTIVES
This was a retrospective observational study conducted in a tertiary neonatal intensive care unit, in order to investigate factors which influenced the severity of bronchopulmonary dysplasia under NICHD new classification.
METHODS
Six years of clinical data with different grades of bronchopulmonary dysplasia patients were collected and analyzed, bivariate ordinal logistic regression model and multivariable ordinal logistic regression model were used with sensitivity analyses.
RESULTS
We identified seven variables were associated with the severity of BPD a bivariate ordinal logistic regression model, including the level of referral hospital (OR 0.273;95% CI 0.117, 0.636), method of caffeine administration (OR 00.418;95% CI 0.177, 0.991), more than two occurrences of reintubation (OR 4.925;95% CI 1.878, 12.915), CPAP reapplication (OR 2.255;95% CI 1.059, 4.802), presence of positive sputum cultures (OR 2.574;95% CI 1.200, 5.519), the cumulative duration of invasive ventilation (OR 1.047;95% CI 1.017, 1.078), and postmenstrual age at the discontinuation of oxygen supplementation (OR 1.190;95% CI 1.027, 1.38). These seven variables were further analyzed all multivariable ordinal logistic regression models, and we found that tertiary hospital birth and early administration of caffeine could reduce the severity of BPD by approximately 70% (OR 0.263;95% CI 0.090, 0.770) and 60% (OR 0.371;95% CI 0.138, 0.995), respectively. In contrast, multiple reintubations were related to higher BPD severity with an OR of 3.358 (95% CI 1.002, 11.252).
CONCLUSION
Improving perinatal care in level II hospitals, standardized caffeine administration, and optimized extubation strategy could potentially decrease the severity of BPD.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Retrospective Studies; Bronchopulmonary Dysplasia; Caffeine; Lung; Intensive Care Units, Neonatal; Gestational Age
PubMed: 37580063
DOI: 10.1080/14767058.2023.2248335 -
Watchful waiting for the undisplaced hip dysplasia when undergoing contralateral hip reconstruction.European Journal of Orthopaedic Surgery... Aug 2023Patients undergoing surgical reduction of the dislocated hip secondary to developmental dysplasia may have a contralateral undisplaced dysplastic hip. This study aimed...
PURPOSE
Patients undergoing surgical reduction of the dislocated hip secondary to developmental dysplasia may have a contralateral undisplaced dysplastic hip. This study aimed to compare the observation of the contralateral undisplaced dysplastic hip with the treatment by acetabuloplasty in terms of persistent dysplasia to determine the need for bilateral surgery.
METHODS
Acetabular dysplasia was defined by an acetabular index (AI) of more than 30 degrees plus a center edge angle (CEA) of less than 20 degrees. A surgical database was queried retrospectively for a cohort between 2008 and 2016. Inclusion criteria were aged between 1 and 6 years, unilateral developmental dysplasia (international hip dysplasia institute grade 1) with contralateral dislocation, no previous treatment and a minimum follow-up of 1 year.
RESULTS
Fifty-seven patients were included, 40 in the observation group and 17 in the acetabuloplasty group. The mean age (interquartile range) was 20 (17-23) months, and the mean follow-up was 42 (22-62) months. The baseline values were similar for both groups. At the final follow-up, no hip had dysplasia, as specified a priori in either group, but the final AI and CEA were corrected more in the acetabuloplasty group (p < 0.001). Based on the adjusted analysis, both acetabuloplasty and follow-up without treatment were associated with improved acetabular coverage.
CONCLUSION
Watchful expectancy of undisplaced hip dysplasia presenting in patients undergoing contralateral hip reconstruction during years of acetabular growth is safe as the risk of persistent dysplasia and additional surgery is low.
LEVEL OF EVIDENCE
III.
Topics: Humans; Infant; Child, Preschool; Child; Hip Dislocation; Retrospective Studies; Watchful Waiting; Hip Dislocation, Congenital; Acetabulum; Treatment Outcome; Hip Joint
PubMed: 36436088
DOI: 10.1007/s00590-022-03433-6 -
Journal of Immigrant and Minority Health Dec 2023Refugees may be at higher risk of cervical dysplasia. The prevalence of screening, pathology, risk factors, and management of patients in our Refugee Women's Health... (Review)
Review
Refugees may be at higher risk of cervical dysplasia. The prevalence of screening, pathology, risk factors, and management of patients in our Refugee Women's Health Clinic (RWHC) was assessed. A retrospective review of RWHC patient records between 2009 and 2015 assessed demographic factors, medical history, initial chief complaint, prevalence of screening, HPV status, and loss to follow-up. We reviewed 696 charts; 84.2% (n = 586) were successfully screened. Prevalence of dysplasia was 6.8% (n = 40). Among those, 5% (n = 2) had high-grade dysplasia, equivalent to 0.34% of the screened population. Only 43.6% received indicated colposcopy. FGM/C was associated with non-statistically significant higher rate of dysplasia, at 11.3%. HIV was associated with a statistically significant higher rate of dysplasia at 36.8% (p < 0.001). The rate of high-grade cervical dysplasia among refugees in RWHC is similar to their home countries. RWHC patients were screened at a higher rate than the general Arizona population.
Topics: Humans; Female; Uterine Cervical Neoplasms; Refugees; Early Detection of Cancer; Uterine Cervical Dysplasia; Delivery of Health Care; Papillomavirus Infections; Mass Screening
PubMed: 37249752
DOI: 10.1007/s10903-023-01491-4 -
Geburtshilfe Und Frauenheilkunde Aug 2023Gynecologic dysplasia units and dysplasia consultations are obliged to offer diagnosis and treatment in accordance with the guidelines. The organization of the...
Standardized Procedures for Patients with Dysplasia and Other Diseases of the Cervix, Vulva, and Vagina at a Certified Dysplasia Unit Prior to the Introduction of the Organized Cervical Cancer Screening Program.
Gynecologic dysplasia units and dysplasia consultations are obliged to offer diagnosis and treatment in accordance with the guidelines. The organization of the consultation process, management of patient appointments, diagnosis, and treatment algorithms are heterogeneous. The legislation arising from the new Federal Joint Committee decision, dated 22 November 2018, concerning the organized cervical cancer screening program has been in force since 1 January 2020. In this article we provide an overview of the existing structures and interdisciplinary cooperation of specialized dysplasia units incorporated in certified gynecologic cancer center. We carried out a retrospective database search of data collected prospectively from 1 July 2014 to 31 December 2019 at the dysplasia unit at the Department of Gynecology and Obstetrics, Erlangen University Hospital, which was the first dysplasia unit to be certified in 2014. A total of 5594 patients presented at the unit, and 16061 colposcopic, vulvoscopic, and anoscopic examinations were performed. Approximately 4100 examinations of the cervix, vagina, vulva, and anus are carried out each year, 1600 of these were exclusively cervix colposcopies. A total of 12197 cytology results were assessed, as well as 4850 histology results, and 8193 high-risk HPV tests. The quality indicators required by the dysplasia unit for annual recertification were met each year. Certified dysplasia units and consultations form the central component in the algorithm for further investigating abnormal screening results; but they are also the first point of contact for a large number of patients with acute or chronic complaints in the genital region.
PubMed: 37588259
DOI: 10.1055/a-1934-1686 -
Oral Diseases May 2024The primary objective of this study was to explore relationship between autoimmunity and epithelial dysplasia in patients with oral lichenoid diseases.
OBJECTIVES
The primary objective of this study was to explore relationship between autoimmunity and epithelial dysplasia in patients with oral lichenoid diseases.
MATERIALS AND METHODS
A total of 66 patients with oral lichen planus (OLP), 35 with oral lichenoid lesion (OLL), and 85 with oral lichenoid drug reaction (OLDR) were enrolled. OLP, OLL, and OLDR were diagnosed following the definitions of the modified World Health Organization criteria, except for the absence of epithelial dysplasia. All patients underwent diagnostic incisional biopsy and adjunctive direct immunofluorescence assays. An indirect immunofluorescence assay was conducted to determine the antinuclear antibody (ANA) positivity.
RESULTS
OLP and OLDR patients with epithelial dysplasia demonstrated higher prevalence of serum ANA positivity compared to those without epithelial dysplasia. Elevated serum levels of high sensitivity-C reactive proteins were observed in the OLP, OLL, and OLDR patients with epithelial dysplasia. In the DIF analysis, patients with epithelial dysplasia in the OLP exhibited a higher prevalence of C3 deposition in the basement membrane zone.
CONCLUSIONS
This study proposed that autoimmunity may contribute to elevating levels of focal and chronic systemic inflammation, potentially influencing abnormal wound healing and development of dysplastic changes in the oral epithelium among patients with oral lichenoid disease.
PubMed: 38764316
DOI: 10.1111/odi.14988 -
Epilepsy & Behavior : E&B Jan 2024Focal cortical dysplasia (FCD) is a cortical malformation in brain development and is considered as one of the major causes of drug-resistant epilepsiesin children and... (Review)
Review
Focal cortical dysplasia (FCD) is a cortical malformation in brain development and is considered as one of the major causes of drug-resistant epilepsiesin children and adults. The pathogenesis of FCD is yet to be fully understood. Imaging markers such as MRI are currently the surgeons major obstacle due to the difficulty in delimiting the precise dysplasic area and a mosaic brain where there is epileptogenic tissue invisible to MRI. Also increased gene expression and activity may be responsible for the alterations in cell proliferation, migration, growth, and survival. Altered expressions were found, particularly in the PI3K/AKT/mTOR pathway. Surgery is still considered the most effective treatment option, due to drug-resistance, and up to 60 % of patients experience complete seizure control, varying according to the type and location of FCD. Both genetic and epigenetic factors may be involved in the pathogenesis of FCD, and there is no conclusive evidence whether these alterations are inherited or have an environmental origin.
Topics: Adult; Child; Humans; Focal Cortical Dysplasia; Phosphatidylinositol 3-Kinases; Brain; Seizures; Treatment Outcome; Magnetic Resonance Imaging; Biomarkers; Malformations of Cortical Development; Retrospective Studies
PubMed: 38070410
DOI: 10.1016/j.yebeh.2023.109565