c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: A Family Case Study and Literature Review.

Respiratory distress syndrome (RDS) is the primary cause of respiratory failure in preterm infants, but it also affects 5-7% of term infants. Dysfunctions in pulmonary surfactant metabolism, resulting from mutations of the lung surfactant genes, are rare diseases, ranging from fatal neonatal RDS to interstitial lung disease, associated with increased morbidity and mortality. This study aims to clarify the clinical significance of ABCA3 variants found in a specific family case, as existing data in the literature are inconsistent.

Considering Histologic Remission in Ulcerative Colitis as a Long-Term Target.

Monitoring disease activity in inflammatory bowel disease (IBD) is challenging since clinical manifestations do not represent reliable surrogates for an accurate reflection of the inflammatory burden. Endoscopic remission had been the most significant endpoint target in the last years; nevertheless, a remarkable proportion of patients continue to relapse despite a normal-appearing mucosa, highlighting that endoscopy may underestimate the true extent of the disease. A subtle hint of the importance that histology plays in the long-term course of the disease has been endorsed by the STRIDE-II consensus, which recommends considering histologic healing for ulcerative colitis (UC), even though it is not stated to be a compulsory formal target.

Statical Association between Clinical and Histopathological Parameters for Keratinocyte Carcinomas.

The most common tumor of the western world is comprised of forms of non-melanoma skin cancers, previously known as keratinocyte carcinomas (KCs) The purpose of this study was to determine de incidence of non-melanoma skin tumors and the relationship between histopathological risk factors in patients with skin cancers. The study was composed from 332 cases of skin malignancies for which clinical and histopathological aggressivity factors were statistically analyzed through comparison tests and also stored digitally. For basal cell carcinoma (BCC) statistical analysis indicated significant relationships between pT category and gender, tumor size, ulceration, depth of invasion and positive resection limits.

Immunoexpression of Claudins -3, -4 and -7 in prostate adenocarcinomas.

Claudins are a family of essential tight junction proteins, abnormally expressed in human carcinomas. The studies that indicated the involvement of claudins in tumor biology and progression suggest the possibility of their utility as markers for diagnosis or prognosis, but also as possible targets for therapy. We investigated 50 prostate adenocarcinomas (PAs) for which we followed the expression of Claudins -3, -4 and -7 in relation to International Society of Urological Pathology (ISUP) grades.

Immunoexpression of Claudin 4 in Gastric Adenocarcinomas.

Disturbance of the intercellular adhesion system represents a basic biomolecular mechanism in gastric carcinogenesis. Claudin 4 is member of a protein family involved in maintaining homeostasis and epithelial integrity. In this study, we analyzed the immunoexpression of Claudin 4 in 58 cases of gastric adenocarcinomas, in relation to the main histopathological parameters of aggressiveness, the reactions obtained being evaluated through the intensity of the reactions and the number of positive cells.

Ezrin Immunoexpression in Prostate Adenocarcinomas.

Ezrin is a component of cell surface structures, the most important member of the Ezrin/radixin/moesin family. In this study, we aimed to evaluate the expression of ezrin in 50 cases of prostate carcinoma (PA) in relation to the ISUP (International Society of Urological Pathology) groups. Ezrin expression analysis was identified in 78% of the PA cases investigated, with predominantly cytoplasmic staining pattern and variable intensity.

Clinicopathological Prognostic Parameters of Endometrioid Endometrial Carcinomas.

Endometrioid endometrial carcinomas (EEC) are common malignant lesions of the female genital tract, with incidence and risk factors that raise issues to improve histopathological prognostic factors. The study included 50 EEC cases, for which the clinicopathological parameters represented by age, risk factors, tumor grade, histological differences, invasion pattern, tumor stage and association of endometrial hyperplasia were analyzed statistically. The results indicated the predominance of EEC in the 7th decade of life, with associated risk factors (78%), more frequently well differentiated (52%), with no other specifications related to differentiation (NOS, 60%), with irregular invasion pattern (66%) in<50% of the myometrial wall (48%).

VEGF Immunoexpression in Endometrioid Endometrial Carcinomas.

Vascular endothelial growth factor (VEGF) is the most important stimulator of endometrial tumor angiogenesis, a mechanism that may be a therapeutic target in the context of an incidence and persistent mortality of endometrial endometrial carcinomas (EEC). In this study, VEGF immunoexpression was analyzed for 50 cases of EEC in relation to the histopathological parameters of tumor aggressiveness. High VEGF scores have been associated with the high grade and advanced stage of EEC, but unrelated to the depth of myometrial invasion, the pattern of tumor invasion, or vascular invasion.

The role of cell adhesion molecules in the progression of bladder urothelial carcinomas.

Alteration of the intercellular adhesion system plays an essential role in the initiation and progression of bladder carcinomas. We followed the immunoexpression of adhesion molecules, E-cadherin, β-catenin and Claudin-1, in relation to the histopathological grade and the pT category in a number of 50 urothelial carcinomas of the bladder, based on a final staining score (FSS), calculated on the basis of reaction intensity and labeled cells number. E-cadherin immunoexpression was identified in the membrane of tumor cells, low FSS being associated with invasive high-grade carcinomas.

The analysis of hormonal status and vascular and cell proliferation in endometrioid endometrial adenocarcinomas.

Endometrioid endometrial carcinomas (EECs) are the most common malignancies of the uterus. Hormonal dependence of EEC, in relation to biomolecular mechanisms involved in tumor progression, such as angiogenesis and cell proliferation, are aspects that can contribute to improving the prognosis of patients. We analyzed the immunoexpression of markers addressed to steroid hormone receptors [estrogen receptor (ER), progesterone receptor (PR)], angiogenesis [cluster of differentiation (CD)105∕endoglin] and cell proliferation (Ki-67) in 50 EECs related to the histopathological prognostic criteria of the lesions.

Histopathological Study of the Prostate Cancer Growth Patterns in Relation with the Grading Systems.

Prostate adenocarcinomas are common lesions with a high incidence and variable prognosis, which can be assessed using tumor grading systems. In this study, we analyzed 329 prostate adenocarcinomas in relation to tumor variants, growth patterns, classical and updated grading systems. The study indicated statistical associations of atrophic, pseudohyperplastic and microcystic variants with low grading scores, the associations of glomeruloid, cribriform with or without necrosis and signet ring-like cell variants with high grading scores, and also of single growth patterns with intermediate scores, which supports the accordance and usefulness of existing grading systems for the identification of aggressive prostate tumor lesions.

Non-Melanoma Skin Cancer: Statistical Associations between Clinical Parameters.

Non-melanoma skin cancer (NMSC) represent an important health problem in medical practice. This is the most frequent type of cancer and its incidence is constantly increasing. Basal cell carcinoma and squamous cell carcinoma constitute the majority of NMSC, respectively 70% and 25% of total cases.

Immunoexpression of Ki67, p53 and cyclin D1 in osteosarcomas.

The main malignant tumor of the bone tissue is represented by osteosarcoma, neoplasia with a reserved prognosis and an unpredictable evolution, often aggressive. Cell cycle disruption is one of the complex biomolecular mechanisms involved in the progression of osteosarcomas. In this study, we analyzed the immunoexpression of Ki67, p53 and cyclin D1 for 18 primitive osteosarcomas in relation to the clinicopathological prognosis parameters of the lesions.

E-cadherin, fibronectin and Slug immunoexpression in non-melanoma skin cancers.

Epithelial-mesenchymal transition (EMT) is an essential biological process involved in the initiation and progression of cancer by which epithelial tumor cells lose their differentiated characteristics, such as cell-cell adhesion and apical-basal polarity and acquire a more invasive and∕or metastatic mesenchymal phenotype. The present study investigated the expression of immunomarkers with a role in EMT of non-melanoma skin cancers (NMSCs), such as E-cadherin, fibronectin and Slug, for a number of 50 NMSCs, represented by 30 cases of basal cell carcinomas (BCCs) and 20 cases of squamous cell carcinomas (SCCs). For BCC, the statistical analysis of the investigated immunomarkers indicated significantly differences in relation to the depth of invasion, and for E-cadherin and fibronectin with the degree of risk.

VEGF Immunoexpression in Prostate Adenocarcinoma.

Angiogenesis is a basic biomolecular mechanism for tumor progression, the vascular endothelial growth factor (VEGF) being one of the main enhancers of this complex process. In this study, we analyzed VEGF-A immunoexpression in 61 prostate adenocarcinomas (PAs), related to the prognostic parameters of the lesions. VEGF scores were higher in PAs that associated serum PSA values above 20ng/ml, in tumors with pure complex or mixed growth patterns, as well as in high-grade and advanced lesions.

Clinicopathological Correlations in Cutaneous Squamous Cell Carcinomas.

Squamous cell carcinomas (SCC) represent 20% of all nonmelanoma skin cancers, most tumors responding favorably to the conventional therapy. Incisional or excisional biopsy is essential for diagnosis and prognosis evaluation. The study included 103 cases of SCC, following the assessment of some clinical and histopathological aggressivity factors, which were digitally stored and statistically analyzed using comparison tests.

The immunoexpression of MMP-1 and MMP-13 in eyelid basal cell carcinoma.

Basal cell carcinoma (BCC) is the most frequent human malignancy and at the same time the most frequent periocular malignancy, representing almost 80% of all non-melanoma skin cancers and 90% of eyelid cancers. The study included 50 cases of eyelid BCC, out of which 41 were nodular BCC (NBCC) and nine were infiltrative BCC (IBCC), with various Breslow scores (BS) and primary tumor (pT) category. We analyzed the immunoexpression of matrix metalloproteinases (MMPs) 1 and 13 in the tumoral epithelial component (TEC) and inflammatory stromal component (ISC) of BCC in relation to the two histopathological parameters.

Comparative clinicopathological aspects of chronic tonsillitis and adenoiditis in children.

Chronic palatal and nasopharyngeal inflammations are common lesions in pediatric pathology, with major effects on children's development. The study included 34 cases of chronic tonsillitis and adenoiditis for which we quantified immunohistochemically and analyzed the distribution of inflammatory elements in the follicular, extrafollicular and epithelial compartments, in relation to the composite histological scores and the clinico-epidemiological profile of the lesions. The cases were more frequent under the age of 10, in female patients, coming from urban areas, with the diagnosis of tonsillitis.

The role of androgen receptors in vascular and cell proliferation of the prostate adenocarcinomas.

Prostate adenocarcinoma (PA) is by incidence and prognosis a unique model for investigating the biomolecular mechanisms involved in tumor progression. In this study, we analyzed the immunoexpression of androgen receptor (AR), cluster of differentiation 105 (CD105) and Ki67 for 61 cases of PA, in relation to the main clinicopathological parameters of the lesions. The AR scores, CD105 microvessel density (MVD) and Ki67 proliferation index (PI) were significantly higher in patients with serum prostate-specific antigen (PSA) above 20 ng∕mL, in ductal, colloid and sarcomatoid types of PA, in growth patterns 4-5 or mixed, respectively in the case of high-grade advanced stage tumors, with perineural and vascular invasion, as well as in groups with a reserved prognosis.

Analysis of Prostate Adenocarcinoma Histopathological Types in Relation to Tumor Grade.

Prostate adenocarcinomas are some of the most common malignancies diagnosed in men, and the evaluation of tumor growth patterns is the basis for establishing the aggressiveness of the lesions. The study included 283 cases of prostate adenocarcinomas for which histopathological type and tumor grade were analyzed. The results indicated the association of ductal, sarcomatoid and signet ring-like cell types with aggressive growth patterns and high scores, atrophic and pseudohyperplastic types with mild growth patterns and low scores, foamy gland type presented intermediate growth patterns/scores, while conventional and colloid types had variable aspects.

Claudin-4 Immunoexpression in Urothelial Carcinomas.

The involvement of claudins in urothelial carcinogenesis is controversial. In this study, we analyzed Claudin-4 immunoexpression in 50 cases of bladder urothelial carcinomas depending on the main prognostic parameters of the lesions represented by the tumor grade and tumor extension. Claudin-4 immunoexpression scores were significantly higher in high-grade urothelial carcinomas and in tumors with invasion in muscularis propria.

Clinico-imaging and morphological aspects of the benign serous ovarian epithelial tumors in children and adolescents.

Benign serous ovarian epithelial tumors represent a major area of interest in pediatric pathology through the incidence and the hormonal and reproductive implications that they induce. In this study, we analyzed 24 tumors diagnosed and surgically operated in children and adolescents, in relation to clinical, histological and immunohistochemical parameters, which can provide information on the potential for growth of lesions. The average age of diagnosis was 13.