Dysplasia In Patients Research Articles

Risk of developing spontaneous MRONJ in fibrous dysplasia patients treated with bisphosphonates: a systematic review of the literature.

The objective of this systematic review was to evaluate the risks of medication-related osteonecrosis of the jaw (MRONJ) in fibrous dysplasia (FD) and McCune-Albright syndrome (MAS) patients treated with bisphosphonates. A systematic review of the literature was performed by searching PubMed and Embase databases using MeSH terms (fibrous dysplasia of bone, "fibrous dysplasia, polyostotic," osteonecrosis, jaw, therapeutics, diphosphonates, denosumab, teriparatide, estrogens, hormones, raloxifene hydrochloride, calcitonin, cathepsin K) and non-MeSH terms (antiresorptive therapy, antiresorptives, bisphosphonate, estrogen therapy, hormone therapy, bazedoxifene, cathepsin K inhibitor). Articles were limited to human studies, in English language, in which patients were on antiresorptives for at least 1 year. PRISMA statement guidelines were used to eliminate non-relevant studies. The PICOT question asked was, "Does exposure to bisphosphonates and other antiresorptives cause occurrence of MRONJ in fibrous dysplasia and fibrous dysplasia/McCune-Albright syndrome patients followed up for at least 1 year?" Eight eligible articles were included in the quantitative synthesis after articles were screened using a PRISMA flowchart. There were 12 reported occurrences of MRONJ among a combined total of 312 fibrous dysplasia and fibrous dysplasia/McCune-Albright syndrome patients (3.85%). Patients with fibrous dysplasia or fibrous dysplasia/McCune-Albright syndrome have a low incidence of MRONJ and may apparently have low susceptibility to spontaneous development of MRONJ.

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Ectodermal dysplasia (ED) are hereditary disorders characterized by the disturbance of the ectodermal development of at least two of four ectodermal tissues: teeth, hair, nails and sweat glands. Clinical classification of ED is challenged by overlapping features, variable expressivity, and low number of patients, hindering full phenotypic spectrum identification. Disease-causing variants in elements of major developmental pathways, e.g., Ectodysplasin/NFκB, Wnt, and Tp63 pathways, have been identified in fewer than half of ED phenotypes. Whole-exome sequencing (WES) was performed for ten Egyptian ED patients presenting with tooth agenesis, normal sweating, scalp hypotrichosis, and sharing characteristic facial features. WES was followed by in silico analysis of the effects of novel detected genetic variants on mRNA and protein structure. The study identified four novel rare pathogenic and likely pathogenic TSPEAR variants, a gene which was recently found to be involved in ectodermal organogenesis. A novel in-frame deletion recurred in eight patients from six unrelated families. Comparing our cohort to previously reported TSPEAR cohorts highlighted the influence of ethnicity on TSPEAR phenotypic affection. Our study expands the clinical and mutational spectrum of the growing TSPEAR associated phenotypes, and pinpoints the influence of WES and in silico tools on identification of rare disease-causing variants.

Fisetin: An Integrated Approach to Identify a Strategy Promoting Osteogenesis.

Flavonoids may modulate the bone formation process. Among flavonoids, fisetin is known to counteract tumor growth, osteoarthritis, and rheumatoid arthritis. In addition, fisetin prevents inflammation-induced bone loss. In order to evaluate its favorable use in osteogenesis, we assayed fisetin supplementation in both in vitro and in vivo models and gathered information on nanoparticle-mediated delivery of fisetin in vitro and in a microfluidic system. Real-time RT-PCR, Western blotting, and nanoparticle synthesis were performed to evaluate the effects of fisetin in vitro, in the zebrafish model, and in ex vivo samples. Our results demonstrated that fisetin at 2.5 µM concentration promotes bone formation in vitro and mineralization in the zebrafish model. In addition, we found that fisetin stimulates osteoblast maturation in cell cultures obtained from cleidocranial dysplasia patients. Remarkably, PLGA nanoparticles increased fisetin stability and, consequently, its stimulating effects on RUNX2 and its downstream gene SP7 expression. Therefore, our findings demonstrated the positive effects of fisetin on osteogenesis and suggest that patients affected by skeletal diseases, both of genetic and metabolic origins, may actually benefit from fisetin supplementation.

Treatment outcomes of hips in patients with epiphyseal dysplasia.

Hip containment surgeries in multiple epiphyseal and spondyloepiphyseal dysplasia (MED/SED) patients aim to improve the mechanical environment of the hip joint. The purpose of this study was to determine if surgical intervention to improve femoral head coverage improved radiographic and clinical outcomes. A retrospective study identified patients with MED/SED seen in clinic between May 2000 and September 2017, with a minimum of 2-year follow-up. Patient charts/radiographs were reviewed for radiographic hip measurements, pain, and gait. Sixty-nine hips in 35 patients were identified. Forty-four hips were treated nonoperatively and 25 were treated surgically. The mean age at diagnosis was 6.2 years. The mean follow-up was 7.7 years for the surgical group and 7.1 years for the nonsurgical group. The mean postoperative follow-up was 5.4 years. Acetabular index decreased from initial to final visit by 9.0° in the surgical group and 1.6° in the nonsurgical group. Tonnis angle decreased by 13.5° in the surgical group and 1.5° in the nonsurgical group. Center edge angle increased by 19.0° in the surgical group and 7.1° in the nonsurgical group. Hips in the surgical group were 6.1 times more likely to experience an improvement in pain compared with hips in the nonsurgical group. Gait at the final follow-up was similar among the two groups. In this study cohort, containment surgery provided increased femoral head coverage; however, there was equal femoral head deformation despite intervention. Hips treated surgically were more likely to experience an improvement in pain; however, gait alterations did not improve.

Paper 23: Long Term Outcomes After Arthroscopic Treatment of Femoroacetabular Impingement for Patients with Borderline Dysplasia

Objectives:Outcomes following isolated hip arthroscopy for patients with dysplasia have been unfavorable, results have included iatrogenic instability and conversion to total hip arthroplasty (THA) at a young age. However, patients with borderline dysplasia have portended more favorable results at short and medium term follow-up. The purpose of this study was to assess long term outcomes after hip arthroscopy for femoroacetabular impingement (FAI) in borderline dysplasia (BD) patients (LCEA, 18°-25°) compared to a control cohort of nondysplastic patients (LCEA, 25°-40°).Methods:Between March 2009 and July 2012, a BD group of 33 patients (38 hips) was identified. An age- and sex-matched control group of 83 patients (96 hips) was also identified. Patient-reported outcome scores, including the modified Harris Hip Score (mHHS), the Hip Outcome Score–Activities of Daily Living (HOS-ADL) and Sport-Specific Subscale (HOS-SSS), and the International Hip Outcome Tool (iHOT-33), were collected preoperatively and subsequently at an average of 9.6 years post-operatively.Results:The mean LCEA and Tönnis angle was 22.4° ± 2.02° and 6.2° ± 3.23° in the BD group and 31.7° ± 3.52° and 2.42° ± 3.02° in the control group, respectively (P <0.001). A labral repair was performed in 78.9% and 76% of the BD and control groups, respectively, all patients underwent capsular closure as part of routine hip arthroscopy. A cam decompression was performed in 97.4% of the BD patients and 99.0% of the control patients. At mean follow-up of 9.6 years (range, 8.2-11.6 years) on average there was significant improvement in all patient-reported outcomes scores in both groups (P<0.001). There were no significant differences between pre and post-operative scores between BD and control groups. Two hips (5.2%) underwent revision surgery in the BD group and 10 hips (10.4%) in the control group, of these one patient in the BD group underwent THA and one patient who underwent bilateral hip arthroscopies in the control group underwent bilateral hip resurfacing.Conclusions:Durable outcomes (>9 years) with low revision rates can be expected after isolated hip arthroscopy that includes cam resection, labral refixation and capsular closure in BD patients with equivalent outcomes to a nondysplastic cohort.

The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.

Different pathogenic variants in the fibrillin‐1 gene (FBN1) cause Marfan syndrome and acromelic dysplasias. Whereas the musculoskeletal features of Marfan syndrome involve tall stature, arachnodactyly, joint hypermobility, and muscle hypoplasia, acromelic dysplasia patients present with short stature, brachydactyly, stiff joints, and hypermuscularity. Similarly, pathogenic variants in the fibrillin‐2 gene (FBN2) cause either a Marfanoid congenital contractural arachnodactyly or a FBN2‐related acromelic dysplasia that most prominently presents with brachydactyly. The phenotypic and molecular resemblances between both the FBN1 and FBN2‐related disorders suggest that reciprocal pathomechanistic lessons can be learned. In this review, we provide an updated overview and comparison of the phenotypic and mutational spectra of both the “tall” and “short” fibrillinopathies. The future parallel functional study of both FBN1/2‐related disorders will reveal new insights into how pathogenic fibrillin variants differently affect the fibrillin microfibril network and/or growth factor homeostasis in clinically opposite syndromes. This knowledge may eventually be translated into new therapeutic approaches by targeting or modulating the fibrillin microfibril network and/or the signaling pathways under its control.

Helicobacter pylori genotypes associated with gastric cancer and dysplasia in Colombian patients.

Colombia has high incidence levels of gastric cancer that can be explained by the genetic variability of Helicobacter pylori (H. pylori). Our aim was to establish the relation of the H. pylori CagA and VacA genotypes to dysplasia and gastric cancer, in a high-risk population. A case-control study was conducted on 202 patients from a high-risk cancer zone. Patients with dysplasia and gastric cancer (cases) and patients with nonatrophic gastritis (controls) were included. Endoscopic sampling and histologic classification were carried out according to the Sydney system and the Lauren classification. Genetic information was obtained through polymerase chain reaction on paraffin blocks. The measures of association of the variables of interest were evaluated in bivariate and multivariate models. A P<0.05 was considered statistically significant and the SPSS version 25 program was employed. Age above 50 years (OR: 23.76; CI: 8.40-67.17; P=0.000) and the VacA s1m1 genotype (OR: 6.18; CI: 1.25-30.51; P=0.025) were associated with higher risk for developing dysplasia and gastric cancer. The CagA+ genotype was not found to be a risk factor for developing those pathologies (OR: 1.02; CI: 0.39-2.62; P=0.965). The H. pylori VacA genotypes are markers for the development of gastric cancer. That information could be used to create a risk index in a predictive model to optimize the healthcare of higher-risk patients.

Is Plasma C-Type Natriuretic Peptide Level Suitable for Diagnosing and Typing Skeletal Dysplasia?

Objective: Skeletal dysplasia is a heterogeneous group of diseases that lead to abnormal enchondral ossification and typing of the disease is quite complex. C-type natriuretic peptide (CNP), one of the members of the natriuretic peptide family, has been implicated in bone development, and CNP levels are high in some types of skeletal dysplasia. The aim of this study was to evaluate the use of CNP as a marker for skeletal dysplasia types and to investigate its role in typing. Methods: Thirty-seven patients aged six months to 18 years [26 (70.3%) girls] were included in this cross-sectional study from among 75 skeletal dysplasia patients. All subjects were physically examined; anthropometric measurements were obtained, and bone surveys were evaluated. ELISA was used to assess CNP plasma levels. Forty-nine healthy children aged six months to 18 years [24 girls (49%)] comprised the control group. Results: The CNP concentration of the patient group (n=37) was 1.31±1.40 ng/mL which was similar to the control group (n=49) at 1.04±1.40 ng/mL (p=0.207). However, the CNP concentration of patients with achondroplasia (n=17) was significantly higher (1.79±1.64 ng/mL) than the control group (p=0.032). Conclusion: Our study contributes evidence concerning CNP values of both healthy children and children with skeletal dysplasia. Compared with healthy children, those with achondroplasia have elevated plasma levels of CNP. Further larger studies are necessary to assess the use CNP as a marker for the diagnosis and typing of skeletal dysplasia.

31 The prevalence and risk factors of anal human papillomavirus infection in high-grade cervical intraepithelial neoplasia patients

Introduction and aims of the study: Cervical and anal cancers are the most common HPV-associated malignancies in women. Some studies suggest that high-risk cervical dysplasia (HRCD) patients have an increased risk for anal HPV-infection and anal high-grade dysplasia, however, this association is not well established. The aim of the study was to determine the incidence and to identify the possible risk factors (RF) of anal HPV infection in HRCD-patients. Methods: This was a cross-sectional study conducted in the Gynaecological department of Riga East Clinical University Hospital, involving 25 HRCD (CIN2+) patients with planned cervical excision.

NPM1 ablation induces HSC aging and inflammation to develop myelodysplastic syndrome exacerbated by p53 loss.

Myelodysplastic syndrome (MDS) is characterized by ineffective hematopoiesis with morphologic dysplasia and a propensity to transform into overt acute myeloid leukemia (AML). Our analysis of two cohorts of 20 MDS and 49 AML with multi-lineage dysplasia patients shows a reduction in Nucleophosmin 1 (NPM1) expression in 70% and 90% of cases, respectively. A mouse model of Npm1 conditional knockout (cKO) in hematopoietic cells reveals that Npm1 loss causes premature aging of hematopoietic stem cells (HSCs). Mitochondrial activation in Npm1-deficient HSCs leads to aberrant activation of the NLRP3 inflammasome, which correlates with a developing MDS-like phenotype. Npm1 cKO mice exhibit shortened survival times, and expansion of both the intra- and extra-medullary myeloid populations, while evoking a p53-dependent response. After transfer into a p53 mutant background, the resulting Npm1/p53 double KO mice develop fatal leukemia within 6 months. Our findings identify NPM1 as a regulator of HSC aging and inflammation and highlight the role of p53 in MDS progression to leukemia.

Postoperative Hip Center Position Associated With the Range of Internal Rotation and Extension During Gait in Hip Dysplasia Patients After Total Hip Arthroplasty.

Background: Total hip arthroplasty (THA) for hip dysplasia patients is sometimes complex and compromises pathomorphological changes in these patients. However, it remains unclear whether it is preoperative deformities or postoperative structures or anatomic changes during THA that have the most remarkable correlation with the hip dynamic function during gait. The purpose of this study was to investigate this relationship and propose insights into the surgical reconstruction strategy in patients with developmental dysplasia of the hip. Methods: A total of 21 unilateral hip dysplasia patients received computed tomography scans for the creation of 3D hip models before surgery and at the last follow-up. Acetabular and femoral orientations, hip center positions, and femoral length were measured before and after THA. Hip kinematics of the operated side during gait was quantified using a dual fluoroscopic imaging technique. Pearson correlation and multiple linear regression were performed to evaluate the relationship between hip maximum range of motion in six directions and demographics characters and above hip anatomic parameters before and after THA and their changes in surgery. Results: Pearson correlation analysis found significant correlations with the gait range of motion mainly in postoperative structures, including postoperative hip center positions and acetabulum and combined anteversion. Further multiple linear regression indicated that a laterally placed hip center was significantly correlated with an increased internal rotation (R 2 = 0.25, p = 0.021), which together with increased postoperative acetabulum anteversion explained 45% of external rotation decreasing (p = 0.004). A proximally placed hip center was correlated with more extension (R 2 = 0.30, p = 0.010). No significant demographic characters or preoperative deformities or surgical changes were included into other multiple regression models. Conclusion: Strong correlations between postoperative structures, especially hip center positions and gait range of motion in unilateral hip dysplasia patients after THA were found. It indicated that postoperative prosthesis structures, particularly hip center positions had significant impact on the hip gait motion range and should be treated with particular caution in surgery.

Whole exome sequencing and analysis of hypohidrotic ectodermal dysplasia patients

Objective: To detect gene mutation in patients with hypohidrotic ectodermal dysplasia (HED) by using whole exome sequencing, to analyze the pathogenicity of the mutations, and to provide reference for the genetic diagnosis of HED patients. Methods: Peripheral blood genomic DNA was extracted from each of the HED patients and their family members collected in Peking University School and Hospital of Stomatology from August 2016 to August 2021. Whole exome sequencing and sanger sequencing were performed to detect gene mutations. Functions of the rare variants after the database filtering were analyzed by bioinformatics tools. Results: Three reported mutations of ectodysplasin A (EDA) gene (c.2T>C, c.161A>G, c.467G>A) and a mutation of ectodysplasin A receptor (EDAR) gene (c.871G>A) were detected by whole genome sequencing in four HED patients, and were verified by Sanger sequencing in four HED families. The EDAR gene mutation founded in this research was reported in HED patients for the first time. Bioinformatics tools predicted that the mutations of EDA gene detected in this study were highly species conserved and disease-causing. The combined annotation dependent depletion (CADD) scores of EDA gene mutations c.2T>C, c.161A>G and c.467G>A were 22.5, 26.3 and 25.5 respectively, and the genomic evolutionary rate profiling (GERP) scores were 2.16, 2.26 and 2.18 respectively. The EDAR gene mutation c.871G>A detected in this study was species conserved and possibly disease-causing. The CADD and GERP scores of EDAR gene mutation c.871G>A were 22.0 and 1.93 respectively. Conclusions: Three reported mutations of EDA gene and a previously unreported mutation of EDAR gene were detected in four HED families. Different mutations of EDA gene and EDAR gene could make different influence on the protein function and lead to the occurrence of HED.

IL-10 and TNF-α genes polymorphisms and the development of cervical lesions and cervical adenocarcinoma: a case-control study.

Cytokines have an important role in the progression of cervical lesions and/or adenocarcinoma. We investigated whether polymorphisms at the promoter regions of the IL-10 -1082 (A&gt; G, rs1800896) and TNF-α -308 (G&gt;A, rs1800629) genes were associated with susceptibility to progression of cervical dysplasia and adenocarcinoma. The study consisted of 240 women infected with HPV (72 with adenocarcinoma and 168 with cervical intraepithelial lesions), and 169 healthy control women. There was a significant increase in the frequency of the IL10 -1082G allele in both cervical dysplasia (OR = 1.39; P = 0.0372) and adenocarcinoma patients (OR = 2.19; P = 0.0002). For the TNF-α -308 polymorphism, there was higher susceptibility to cervical lesions, in relation to risk factors such as: age &gt; 35 years old (OR = 2.57; p = 0.0057), age of first sexual intercourse 1st &lt; 18 years old (OR = 6.6224, p &lt; 0.0001), smoking (OR = 3.80; P = 0.0003), African ancestry (OR=5.18, p &lt; 0.0001) and co-infection with Chlamydia trachomatis (OR=2.41, p=0.0315). Our findings suggest that polymorphisms in the IL-10 and TNF-α genes may play a role in the susceptibility or severity of cervical disease in the study population.&#x0D; Keywords: Tumor Necrosis Factor-alpha; Interleukin 10; Cervical lesions; Adenocarcinoma; HPV.

Colposcopic Findings and Diagnosis in Low-Income Brazilian Women with ASC-H pap Smear Results.

To determine the accuracy of colposcopy findings in diagnosing cervical intraepithelial neoplasia (CIN) in women with an atypical squamous cells, cannot exclude high-grade squamous intraepithelial lesion (ASC-H) pap smear result and analyze whether the prevalence of HSIL and cancer correlates with sociodemographic risk factors and specific colposcopic findings. Colposcopic findings and sociodemographic risk factors were analyzed as possible predictors of a CIN 2 or worse diagnosis in women with an ASC-H pap smear result. Accuracy of the colposcopic impression was 92%, sensitivity was 91.6%, and specificity was 93.1%, with a positive predictive value of 96.4% and negative predictive value of 84.3%. Diagnosis of CIN 2 or worse was more frequent in patients with a previous history of cervical dysplasia and pre-menopausal patients. Identification of major colposcopic findings, dense acetowhite epithelium, coarse mosaicism, and punctuation correlated significantly with CIN 2 or worse. Colposcopy performed by an experienced examiner can accurately differentiate patients with CIN 1 or less from patients with CIN 2 or worse. Diagnosis of CIN 2 or worse was more frequent in patients with a previous history of cervical dysplasia and pre-menopausal patients. The degree of acetowhite changes was the best colposcopic feature to predict CIN2 or worse.

Risk Factors for Rebound After Correction of Genu Valgum in Skeletal Dysplasia Patients Treated by Tension Band Plates.

Growth modulation using tension band plates (TBPs) is increasingly important for lower limb deformity correction in patients with skeletal dysplasia (SKD). Development of rebound deformity is a concern after TBP removal. Data regarding this complication are rare; therefore, we evaluated the prevalence and risk factors for rebound deformity in children with SKD undergoing correction of genu valgum using TBP. All patients with SKD with genu valgum treated by TBP at the distal femur or/and proximal tibia at a single center were reviewed. Inclusion criteria were: (1) minimum 2-year follow-up after TBP removal or having revision surgery for rebound deformity and (2) implant removal age for girls 14 years and below and boys 16 years and below. Exclusion criteria were any femoral/tibial osteotomies during TBP treatment or follow-up. A change of ≥3 degrees of mechanical lateral distal femoral and/or medial proximal tibial angle was accepted as rebound deformity and analyzed statistically. Thirty-three patients (59 limbs; 52 femur and 29 tibia physes) met our criteria. Mean follow-up after implant removal was 43.7 months. Rebound deformities were seen in 43 limbs (39 femurs and 13 tibias). Boys had more rebound than girls; however, this was not influenced by body mass index. Femurs had more rebound than tibias. Patients in the rebound group were younger than the nonrebound group. Time from application to removal of TBP was shorter in the rebound versus nonrebound group. Overcorrected limbs had more rebound deformity than not overcorrected. The difference in growth velocity of lower limbs in the rebound versus nonrebound group was statistically significant. Patients with epiphyseal dysplasia had more rebound than metaphyseal dysplasia, but this was not statistically significant. Risk factors for developing a rebound deformity after correction of genu valgum using TBP in SKD included male sex, TBP surgery at a young age, short duration of TBP implantation, overcorrected extremity (mechanical axis deviation ≤1), and high percent growth velocity after TBP removal. Level IV-retrospective study.

Motivation to smoking cessation in head and neck cancer and dysplasia patients in confrontation with the attitudes of otorhinolaryngologists in delivering anti-smoking therapies

ObjectivesThe aim of the study was to determine the influence of oral, oropharyngeal, laryngeal and hypopharyngeal dysplasia and cancer diagnosis on motivation to smoking cessation in patients. Consecutively, we assessed the competence of ENT specialists in counseling anti-smoking therapies.MethodsQuestionnaire of expected support, Schneider motivation test and Fagerström Test for Nicotine Dependence (FTND) were administered to 50 smoking patients. The online survey was collected from 152 ENT doctors.ResultsMean FTND score was 4.58 and Heaviness of Smoking Index (HSI) was 3.1. Patients with oral cavity and oropharyngeal cancer showed the greatest dependence to nicotine 7.67 and 5.25, respectively, and with hypopharyngeal cancer had the lowest 3.5, (p = 0.039). The ranges of HSI were significantly higher for younger patients (p = 0.036). 35 patients were adequately motivated to quit smoking, and their mean age was statistically higher (p = 0.05). Self-reported motivation to smoking cessation was 76%. Of 152 surveyed doctors, only 39% declared knowledge of the diagnostic and therapeutic cessation interventions. 75% showed interest in the training programs.

Surgical Treatment of Mild Hip Dysplasia in Combination with Pembersal and Femoral Osteotomy

The aim of this study was to show the clinical and radiographic mid-term results of Pembersal and femoral osteotomy without open reduction in patients with mild dysplasia of the hip joint. This case series included 13 Developmental Dysplasia of the Hip (DDH) patients (13 hips), who underwent a combination of Pembersal and femoral osteotomy without open reduction between January 2014 and June 2020. The patients comprised 12 females (93%) and 1 male (8%), with a mean age at surgery of 24.29.40 months (range: 17-51 months) and the average follow-up was 31.413.2 months (range: 12-49 months). The mean acetabular index decreased significantly from 36.604.870 (range:300- 460) preoperatively, to 1801.410 (range: 150-210) at the final follow-up examination (p<0.001). Avascular necrosis (AVN) was not seen in any patient. The results showed that this kind of surgical procedure seems to be successful at the mid-term follow-up in mild hip dysplasia patients. The most important point was that avascular necrosis was not seen in any of the patients with this technique.

Intestinal-type gastric dysplasia in Helicobacter pylori-naïve patients.

Gastric dysplasia and gastric cancer in Helicobacter pylori (Hp)-naïve patients usually exhibit a gastric phenotype, reflecting gastric mucosa without intestinal metaplasia (IM). We showed that intestinal-type gastric dysplasia (IGD) rarely occurs in the Hp-naïve stomach. In the last 10years, we treated 1760 gastric dysplasia and gastric cancer patients, with 3.6% (63/1760) being Hp-naïve. Among these, ten were diagnosed with 14 IGDs and enrolled in this retrospective analysis. All lesions were observed by white-light endoscopy (WLE) and narrow-band imaging with magnification endoscopy (NBIME). We analyzed their endoscopic and microscopic features and patient demographics. Five men and five women aged 64 ± 21years were included. WLE showed the depressed lesions mimicking a benign raised erosion in the prepyloric compartment. Multiple growths were confirmed in 30% (3/10) of patients. NBIME showed a near-regular microstructure and capillaries in 50% (7/14) of lesions with a gastritis-like appearance. Histologically, background mucosa was non-atrophic pyloric gland tissue, but 40.0% of samples (4/10) contained sporadic IM. Most of the lesions (8/14) were low-grade dysplasia, and others had a high-grade component, with one progressing to intramucosal carcinoma. The neoplastic surface was widely covered with foveolar epithelium in 57.1% (8/14). Immunohistochemically, neoplastic cells expressed CDX2 in all patients (14/14), MUC2 and CD10 in 92.9% (13/14), MUC5AC in 14% (2/14), and no expression of MUC6, showing an intestinal phenotype. Ki-67 was overexpressed with a mean labeling index of 58.3 ± 38.5%, and p-53 was overexpressed in 92.9% (13/14), regardless of the dysplastic grade. The IGD rarely occurs in Hp-naïve patients with distinctive clinicopathologic characteristics.

Fibrous dysplasia patients with and without craniofacial involvement report reduced quality of life inclusive of stigma, depression, and anxiety.

Fibrous dysplasia is a rare bone disorder that causes deformity, fractures, and pain that typically manifests in childhood and persists as a chronic illness. This study evaluates adult patients with fibrous dysplasia and McCune Albright syndrome to determine whether their quality of life differs from the general population and varies in relation to disease severity and lesion location. This study uses data from the online self-report Fibrous Dysplasia Foundation Patient Registry and operationalizes quality of life using PRO measures: SF-36, Hospital Anxiety and Depression scale, Neuro-Quality of Life Stigma scale, and the Brief Pain Inventory. One hundred and ninety seven adults, 90% white, 84% women, constitute the sample. Mean scores for all SF-36 domains and the Neuro Q stigma scale were significantly below population benchmarks. A large minority registered moderate to severe levels of anxiety and depression. Group differences were not significant across most of the SF-36 domains but were associated with experienced stigma. This study demonstrates a social psychological impact of fibrous dysplasia on adults, in those with and without craniofacial involvement and with mild and severe forms of the disease. Clinical treatment should encompass assessment of quality of life issues and ensure access to psychosocial treatment resources for all fibrous dysplasia/McCune-Albright syndrome patients.

A Systematic Review and Meta-Analysis on the Association between Inflammatory Bowel Disease Family History and Colorectal Cancer.

Background Colorectal cancer (CRC) and inflammatory bowel disease (IBD) are closely interrelated. However, the effect of having a family history of one disease on the risk of another remains undetermined. Aim The purpose of this meta-analysis was to estimate the prevalence of a family history of CRC among patients with IBD, as well as the prevalence of a family history of IBD among patients with CRC. Methods PubMed, Scopus, Embase, Web of Science, and Google Scholar were searched to identify studies reporting the prevalence of family history of IBD among patients with CRC, in addition to the prevalence of family history of CRC among IBD patients. Criteria for study inclusion consisted of the following: (1) studies that evaluated either IBD or CRC and dysplasia, (2) included all age groups, and (3) evaluated the family history effects for IBD or CRC. The total number of IBD patients and IBD patients with a family history of CRC and the total number of CRC patients and CRC patients with a family history of IBD were reviewed. The pooled prevalence of diseases was also estimated according to degree of relatives and geographical area. Random-effects models were used for estimating pooled prevalence. Results A total of 27 studies were included with 26,576 IBD and 9,181 CRC or dysplasia patients. Eligible studies included 13 case-control, 10 cohort, and 4 cross-sectional types. The pooled prevalence of a family history of CRC among patients with IBD was 6% (95% CI: 4-9%). The pooled prevalence for first- and second-degree relatives (11%, 95% CI: 0-37%) was more than that for the other relative subgroups of relatedness degree. The prevalence in the American regions (8% (95% CI: 5-13%)) was higher than that in the others. The pooled prevalence for a family history of IBD among CRC or dysplasia patients was 11% (95% CI: 6-16%). The pooled prevalence for first-degree relatives (13% (95% CI: 3-28%) was higher than that for the other relative subgroups of relatedness degree; it was also greater in American countries (15%, 95% CI: 8-23%). Conclusion This study emphasizes the relationship between a family history of IBD and CRC development. Additionally, there was notable prevalence for a family history of CRC among IBD patients. American countries and first-degree relatives were identified to have a higher prevalence for both disease processes.