scholarly journals Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (9) ◽  
pp. 1560
Author(s):  
Cristina Antohi ◽  
Danisia Haba ◽  
Lavinia Caba ◽  
Mihai Liviu Ciofu ◽  
Vasile-Liviu Drug ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Colorectal Adenocarcinoma ◽  
Novel Mutation ◽  
Soft Tissue Tumors ◽  
Apc Gene ◽  
X Rays ◽  
Gardner Syndrome ◽  
Extracolonic Manifestations ◽  
Fourth Decade ◽  
Detailed Family History

Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal adenocarcinoma with osteomas and soft tissue tumors determined by germline mutations in the APC gene. The early diagnosis and identification of high-risk individuals are important because patients have a 100% risk of colon cancer. We present the case of a family with Gardner syndrome. Cephalometric, panoramic X-rays and CBCT of the proband and her brother showed multiple osteomas affecting the skull bones, mandible and paranasal sinuses. The detailed family history showed an autosomal dominant transmission with the presence of the disease in the mother and maternal grandfather of the proband. Both had the typical signs of disease and died in the fourth decade of life. Based on these aspects the clinical diagnosis was Gardner syndrome. By gene sequencing, a novel pathogenic variant c.4609dup (p.Thr1537Asnfs*7) in heterozygous status was identified in the APC gene in both siblings. We reviewed literature data concerning the correlation between the localization of mutations in the APC gene and the extracolonic manifestations of familial adenomatous polyposis as well as their importance in early diagnosis and adequate oncological survey of patients and families based on abnormal genomic variants.

scholarly journals Differential Effects of Gold Nanoparticles and Ionizing Radiation on Cell Motility between Primary Human Colonic and Melanocytic Cells and Their Cancerous Counterparts

2021 ◽  
Vol 22 (3) ◽  
pp. 1418
Author(s):  
Elham Shahhoseini ◽  
Masao Nakayama ◽  
Terrence J. Piva ◽  
Moshi Geso
Keyword(s):  
Gold Nanoparticles ◽  
Ionizing Radiation ◽  
Cancer Cells ◽  
Cell Lines ◽  
Colorectal Adenocarcinoma ◽  
X Rays ◽  
Cell Adherence ◽  
Cancerous Cell ◽  
Primary Colon ◽  
Radiation Induced

This study examined the effects of gold nanoparticles (AuNPs) and/or ionizing radiation (IR) on the viability and motility of human primary colon epithelial (CCD841) and colorectal adenocarcinoma (SW48) cells as well as human primary epidermal melanocytes (HEM) and melanoma (MM418-C1) cells. AuNPs up to 4 mM had no effect on the viability of these cell lines. The viability of the cancer cells was ~60% following exposure to 5 Gy. Exposure to 5 Gy X-rays or 1 mM AuNPs showed the migration of the cancer cells ~85% that of untreated controls, while co-treatment with AuNPs and IR decreased migration to ~60%. In the non-cancerous cell lines gap closure was enhanced by ~15% following 1 mM AuNPs or 5 Gy treatment, while for co-treatment it was ~22% greater than that for the untreated controls. AuNPs had no effect on cell re-adhesion, while IR enhanced only the re-adhesion of the cancer cell lines but not their non-cancerous counterparts. The addition of AuNPs did not enhance cell adherence. This different reaction to AuNPs and IR in the cancer and normal cells can be attributed to radiation-induced adhesiveness and metabolic differences between tumour cells and their non-cancerous counterparts.

SUBUNGUAL GLOMUS TUMOUR: THE ENIGMATIC CAUSE OF CHRONIC PAINFUL FINGER PULP - A CASE REPORT

2021 ◽  
pp. 11-12
Author(s):  
Mohit Naren Kondapalli ◽  
Kishore Babu EP ◽  
Affee Asma
Keyword(s):  
Soft Tissue ◽  
Subcutaneous Tissue ◽  
Soft Tissue Tumors ◽  
Glomus Tumour ◽  
Connective Tissue Capsule ◽  
Venous Shunt ◽  
Fourth Decade ◽  
Tissue Capsule ◽  
Dermis Layer ◽  
Glomus Body

Glomus tumour, also referred to as Barré–Masson syndrome is an enigmatic, rare, painful tumour that is that represents a proliferation of the normal capsular-neural glomus apparatus. These are rare hamartomas that arise from the traditional glomus apparatus, located in subcutaneous tissue These are benign soft tissue neoplasms presenting usually within the second to fourth decade of life, originating from the glomus body. It accounts for 1-5% of all upper limb soft tissue tumors . It's a component of the dermis layer of the [1] skin, involved in thermoregulation. It structurally consists of an arterio-venous shunt which is surrounded by a connective tissue capsule and is found in increased amounts in the ngers and toes.

Look at the whole X-ray, not just the bones

2006 ◽  
Vol 92 (3) ◽  
pp. 118-120
Author(s):  
S. Warwick ◽  
J. E. Smith ◽  
I. Higginson
Keyword(s):  
Early Diagnosis ◽  
Incidental Finding ◽  
X Rays ◽  
X Ray ◽  
Life Threatening

AbstractA case is presented where an incidental finding on a trauma radiograph led to early diagnosis of a potentially life-threatening tumour, highlighting the need to be vigilant when interpreting X-rays.

scholarly journals INTEGRATED APPROACH TO EARLY DIAGNOSIS ODONTOGENETIC CYSTIC JAWS VARIOUS ORIGINS , ARE PRONE TO RECURENCE AND AGRESIVE INFILTRATIVE GROWTH

2014 ◽  
Vol 10 (6) ◽  
pp. 31-35
Author(s):  
А. Зыкин ◽  
A. Zykin
Keyword(s):  
Early Diagnosis ◽  
Integrated Approach ◽  
Common Type ◽  
Diagnosis And Treatment ◽  
Female Ratio ◽  
Peak Incidence ◽  
Fourth Decade ◽  
Overall Ratio ◽  
Male To Female

<p> This work was devoted to improve the effectiveness of early diagnosis and treatment of patients with cystic odontogenic jaws of various origins, are prone to relapse and aggressive infiltrative growth. Of the 110 cases analyzed, the most common type of inflammatory cysts were radicular cysts (76.4%) and cysts with signs of keratinization of the epithelium (23,6%). Average age – 35,2 years. The peak incidence (47,3%) was recorded in the fourth decade in age from 41 to 60 years. The overall ratio of male to female ratio was 1:1.3. </p>

SCREENING FOR NEONATAL HIP INSTABILITY IN AN ASIAN POPULATION: AN EVALUATION OF THE FIRST 5 YEARS

1999 ◽  
Vol 03 (01) ◽  
pp. 33-37
Author(s):  
K. C. Ang ◽  
E. H. Lee
Keyword(s):  
Early Diagnosis ◽  
Screening Program ◽  
Adult Life ◽  
Hip Dislocation ◽  
Successful Outcome ◽  
Prolonged Treatment ◽  
X Rays ◽  
Screening Programs ◽  
Live Births ◽  
Neonatal Hip

Developmental dysplasia of the hip can result in significant morbidity both in childhood and later in adult life. Early diagnosis enables better results to be obtained with fewer complications, while delayed diagnosis can lead to prolonged treatment with less satisfactory outcome. A Neonatal Hip Screening program for DDH has been in place in the National University Hospital, Singapore since December 1989. Our program is run by consultant neonatologists and consultant paediatric orthopaedic surgeons. All neonates seen with DDH are followed up for a minimum of 1 year with ultrasonography and X-rays. Our results show an incidence of dislocated hips of 4.7 per 1000 live births. The incidence of neonates with acetabular dysplasia as defined by an Acetabular Index of > 30° is 16.8 per 1000 live births. The early diagnosis and treatment of hip dislocation is important for the development of a normal acetabulum. Neonatal Hip Screening programs have been shown to be effective in the early diagnosis, resulting in successful outcome of treatment and reduction of economic costs in the management of DDH. The finding of a significant incidence of DDH in our population and the successful management after early diagnosis in our study have vindicated the establishment of our hip screening program.

scholarly journals A novel mutation of adenomatous polyposis coli (APC) gene results in the formation of supernumerary teeth

2017 ◽  
Vol 22 (1) ◽  
pp. 152-162 ◽  
Author(s):  
Fang Yu ◽  
Wenping Cai ◽  
Beizhan Jiang ◽  
Laijun Xu ◽  
Shangfeng Liu ◽  
...  
Keyword(s):  
Adenomatous Polyposis Coli ◽  
Novel Mutation ◽  
Apc Gene ◽  
Adenomatous Polyposis ◽  
Polyposis Coli ◽  
Supernumerary Teeth

scholarly journals THE IMPACT OF FINANCIAL INCENTIVES ON THE QUALITY OF EARLY DIAGNOSIS IN THE PRACTICE OF A DENTIST WHO PROVIDES QUALITY TREATMENT

2021 ◽  
Vol 10 (34) ◽  
Author(s):  
S.S GRECHIKHIN ◽  
Keyword(s):  
Early Diagnosis ◽  
Financial Incentives ◽  
Diagnostic Methods ◽  
Quality Level ◽  
X Rays ◽  
High Quality ◽  
Diagnostic Measures ◽  
The Cost ◽  
The Impact

Diagnostics in the practice of a dentist is the key to quality treatment. However, depending on the quality of services provided, the cost of diagnostic methods is set. For a dentist working in a private office, the key to successful diagnostic measures at a high quality level is a priority. However, these methods are expensive for the patient. The purpose of this study is to study the impact of financial incentives on the quality of early diagnosis in the practice of a dentist who provides quality treatment. In the study, we studied clinical cases with full and partial study in terms of diagnostic and neglect x-ray diagnosis from the doctor and from the patient due to a misunderstanding of the importance and necessity of this manipulation. In statistical data analysis, the resulting regression models use a binary variable as a dependent variable on the level of financial costs. Thus, in the course of our research, we found that the number of x-rays significantly increases when dentists receive a fee for services, rather than a salary, and when patients are exempt from paying for additional diagnostic methods. Our results show that financial incentives significantly influence additional high-quality and complete examination of patients.

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