Gastrointestinal Polyposis in Childhood: Clinicopathologic and Genetic Features

2003 ◽  
Vol 6 (5) ◽  
pp. 371-391 ◽  
Author(s):  
Amy Lowichik ◽  
W. Daniel Jackson ◽  
Cheryl M. Coffin
Keyword(s):  
Early Diagnosis ◽  
Genetic Screening ◽  
Molecular Genetic ◽  
Screening Tests ◽  
Polyposis Syndrome ◽  
Gastrointestinal Polyposis ◽  
Increased Risk ◽  
Genetic Features ◽  
Microscopic Features ◽  
Polyposis Syndromes

Gastrointestinal polyps and certain extraintestinal lesions in children may herald a hereditary polyposis syndrome, with an increased risk of neoplasia and other health problems for both children and their relatives. The availability of molecular/genetic screening tests has increased early diagnosis of younger members of known polyposis families. This article reviews the gross and microscopic features of polyposis syndromes of childhood and summarizes the molecular/genetic advances in this field. Clinical management is also briefly discussed.

Gastrointestinal polyposis

2011 ◽  
Author(s):  
R. Mark Beattie ◽  
Anil Dhawan ◽  
John W.L. Puntis
Keyword(s):  
Rectal Bleeding ◽  
Genetic Screening ◽  
Hyperplastic Polyps ◽  
Gastrointestinal Polyposis ◽  
Juvenile Polyps ◽  
Polyposis Syndromes

Hamartoms 220Adenomas 221Hyperplastic polyps 221Inflammatory polyps 222Polyps generally present with painless rectal bleeding or through genetic screening of affected families with polyposis syndromes. There are various types, as listed in Table 31.1. Juvenile polyps (hamartomas) are the most commonly seen and generally benign....

Polyposis Syndromes

2020 ◽  
Author(s):  
Katherine A Kelley ◽  
Daniel O Herzig
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Cancer Risk ◽  
Future Research ◽  
Molecular Characteristics ◽  
Inherited Disorders ◽  
Polyposis Syndrome ◽  
Screening Guidelines ◽  
Increased Risk ◽  
Polyposis Syndromes

Colorectal cancer (CRC) is the third most common type of cancer and the second leading cause of cancer death in men and women. Although about one third of cancers arise in patients with a family history of CRC, only 5% arise in the setting of mendelian-inherited disorders. Patients without a family history but with a significant polyp burden (> 20 polyps) should be considered to have polyposis syndrome. The field of polyposis syndromes continues to advance, based on new genetic discoveries that define the genetic etiologies of polyposis syndromes. When considered in relation to an individual’s phenotype, these discoveries help guide screening and treatment based on the cancer risk created by specific mutations. Patients with polyposis syndromes carry an increased risk of CRC and some other extracolonic cancers. Future research will provide additional insight into the cause of polyposis syndromes without a currently detectable gene defect and will improve early identification and cancer prevention in affected individuals. Identification of additional molecular characteristics may lead to a more personalized approach to treatment for these individuals. This review contains 7 figures, 11 tables and 52 references. Key words: attenuated familial polyposis, colorectal cancer risk, familial adenomatous polyposis, hamartomatous polyposis syndrome, juvenile polyposis syndrome, MUTYH-associated polyposis, Peutz-Jeghers syndrome, polyposis syndromes, screening guidelines, serrated polyposis syndrome  

Polyposis Syndromes

2020 ◽  
Author(s):  
Katherine A Kelley ◽  
Daniel O Herzig
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Cancer Risk ◽  
Future Research ◽  
Molecular Characteristics ◽  
Inherited Disorders ◽  
Polyposis Syndrome ◽  
Screening Guidelines ◽  
Increased Risk ◽  
Polyposis Syndromes

Colorectal cancer (CRC) is the third most common type of cancer and the second leading cause of cancer death in men and women. Although about one third of cancers arise in patients with a family history of CRC, only 5% arise in the setting of mendelian-inherited disorders. Patients without a family history but with a significant polyp burden (> 20 polyps) should be considered to have polyposis syndrome. The field of polyposis syndromes continues to advance, based on new genetic discoveries that define the genetic etiologies of polyposis syndromes. When considered in relation to an individual’s phenotype, these discoveries help guide screening and treatment based on the cancer risk created by specific mutations. Patients with polyposis syndromes carry an increased risk of CRC and some other extracolonic cancers. Future research will provide additional insight into the cause of polyposis syndromes without a currently detectable gene defect and will improve early identification and cancer prevention in affected individuals. Identification of additional molecular characteristics may lead to a more personalized approach to treatment for these individuals. This review contains 7 figures, 11 tables and 52 references. Key words: attenuated familial polyposis, colorectal cancer risk, familial adenomatous polyposis, hamartomatous polyposis syndrome, juvenile polyposis syndrome, MUTYH-associated polyposis, Peutz-Jeghers syndrome, polyposis syndromes, screening guidelines, serrated polyposis syndrome  

scholarly journals Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Amna Ahmed ◽  
Badr Alsaleem
Keyword(s):  
Colorectal Cancer ◽  
Genetic Screening ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Juvenile Polyposis ◽  
Entire Colon ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Juvenile Polyps ◽  
Increased Risk

Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps. Subsequent genetic screening revealed a novel mutation in SMAD4, exon 5 (p.Ser144Stop). To the best of our knowledge, this mutation has not been reported before. Offering genotypic diagnosis for patients with JPS is an important step for strategic plan of management.

Familial Polyposis Syndromes

2016 ◽  
Author(s):  
Sahar Nissim ◽  
Ramona M. Lim
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Diagnostic Criteria ◽  
Juvenile Polyposis ◽  
World Health ◽  
Adenomatous Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Cancer Susceptibility Genes ◽  
Increased Risk ◽  
Polyposis Syndromes

Although sporadic polyps in the gastrointestinal tract are common with increasing age, the finding of a large number of polyps raises suspicion for a hereditary polyposis syndrome associated with a germline genetic mutation. Because many of these hereditary polyposis syndromes also confer an increased risk of gastrointestinal and extraintestincal cancers, implicated in approximately 1% of all colorectal cancers, recognition of these syndromes is critical to offer preventive screening measures. A key distinguishing feature is polyp histologic type, ranging from adenomatous, to serrated, to hamartomatous. A clinical diagnosis can be confirmed by genetic testing for a germline mutation in known cancer susceptibility genes, although in many polyposis families, a genetic etiology has not yet been identified. This review covers familial adenomatous polyposis, MUTYH-associated polyposis, polyposis associated with polymerase proofreading, juvenile polyposis syndrome, PTEN hamartoma tumor syndromes, hereditary mixed polyposis syndrome, and serrated polyposis. The figures shows the spectrum of histologic types and genetic etiologies of hereditary polyposis syndromes. Tables list polyposis syndromes, American College of Gastroenterology surveillance guidelines for hereditary polyposis syndromes, diagnostic criteria for juvenile polyposis syndrome, diagnostic criteria for PTEN hamartoma tumor syndrome, and World Health Organization diagnostic criteria for serrated polyposis syndrome.   This review contains 1 highly rendered figure, 5 tables, and 172 references Key words: Familial adenomatous polyposis; Polyposis syndromes; Gastrointestinal polyps; Hereditary polyposis syndromes

Association of MUC2 and CYP11B2 genes single nucleotide polymorphisms with the external genital endometriosis development in female patients of the Slavic population of the Russian Northwestern Federal District

GYNECOLOGY ◽  
2020 ◽  
Vol 22 (2) ◽  
pp. 22-25
Author(s):  
Natal’ia V. Kulikova ◽  
Inna I. Kovalenko ◽  
Larisa S. Litvinova ◽  
Natal’ia V. Shperling ◽  
Andrei V. Ivanov ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Real Time Pcr ◽  
Molecular Genetic ◽  
Federal District ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Female Patients ◽  
Diagnosis And Prognosis ◽  
Increased Risk ◽  
Light Cycler

Aim. Search for the association of polymorphisms C(-15161)T (rs10902088) and T(-12150) C(rs10794288) of the MUC2 gene and С(-344)Т (rs1799998) of the CYP11B2 gene with the increased risk of genital endometriosis development in the Slavic population. Materials and methods. The study included 85 female patients (from 19 to 44 years old) with a diagnosis of genital endometriosis and 79 healthy women (from 20 to 42 years old). Genotyping was performed by real-time PCR using a Light Cycler 480 Instrument II amplifier (Roche, Switzerland). Polymorphism determination kits, MUC2 C(-15161)T (rs10902088), MUC2 T(-12150)C (rs10794288), CYP11B2 С(-344)Т (rs1799998) (CJSC Syntol). Results. It was found that the CC genotype of the T(-12150)C (rs10794288) C polymorphism of the MUC2 gene and the C(-344)T (rs1799998) CC polymorphism genotype of CYP11B2 gene are protective against endometriosis, and the TT genotype of C(-344)T polymorphism ( rs1799998) of the CYP11B2 gene contributes to the development of this disease. Conclusion. The search for molecular genetic aspects in the development of genital endometriosis is necessary for early diagnosis and prognosis of the disease.

Ethical Issues Relevant to the Assessment of Suicide Risk in Nonclinical Research Settings

Crisis ◽  
2012 ◽  
Vol 33 (1) ◽  
pp. 54-59 ◽  
Author(s):  
Carolyn M. Wilson ◽  
Bruce K. Christensen
Keyword(s):  
Undergraduate Students ◽  
Suicide Risk ◽  
Ethical Issues ◽  
Current Paper ◽  
Self Report ◽  
Ethical Guidelines ◽  
Schizotypal Personality ◽  
Increased Risk ◽  
Genetic Features ◽  
Conducting Research

Background: Our laboratory recently confronted this issue while conducting research with undergraduate students at the University of Waterloo (UW). Although our main objective was to examine cognitive and genetic features of individuals with schizotypal personality disorder (SPD), the study protocol also entailed the completion of various self-report measures to identify participants deemed at increased risk for suicide. Aims and Methods: This paper seeks to review and discuss the relevant ethical guidelines and legislation that bear upon a psychologist’s obligation to further assess and intervene when research participants reveal that they are at increased risk for suicide. Results and Conclusions: In the current paper we argue that psychologists are ethically impelled to assess and appropriately intervene in cases of suicide risk, even when such risk is revealed within a research context. We also discuss how any such obligation may potentially be modulated by the research participant’s expectations of the role of a psychologist, within such a context. Although the focus of the current paper is on the ethical obligations of psychologists, specifically those practicing within Canada, the relevance of this paper extends to all regulated health professionals conducting research in nonclinical settings.

CEREBRAL PALSY:A CLINICAL OVERVIEW

2020 ◽  
Vol 3 (1) ◽  
pp. 54-59
Author(s):  
Nargiza Ergasheva ◽  
◽  
Sardor Anorboev ◽  
Gavkhar Kendjaeva ◽  
Keyword(s):  
Brain Area ◽  
Fetal Brain ◽  
Clinical History ◽  
Screening Tests ◽  
Spastic Diplegia ◽  
Team Approach ◽  
Birth Process ◽  
Increased Risk ◽  
Spastic Quadriplegia ◽  
Magnetic Resonance Imaging Mri

Cerebral palsy (CP) is a disorder characterized by abnormal tone, posture and movement. The incidence of CP is 2–4 per 1,000 live births in the world. Prematurityand low birth weight are important risk factors for CP; however, multiple other factors have been associated with an increased risk for CP, including maternal infections and diseases, and abnormal birth process. In most cases of CP the initial injury to the brain occurs during early fetal brain development, later a brain area that is injured cannot function properly in the future. CP is classified clinically based on the predominant motor syndrome—spastic hemiplegia, spastic diplegia, spastic quadriplegia, ataxic and dyskinetic cerebral palsies. The diagnosis of CPis based on a combination of clinical history, use of standardized neuromotor assessment and findings on magnetic resonance imaging (MRI). If there is a suspicionof genetic or inborn metabolic disorders, screening tests should be provided additionally. Because CP is associated with multiple associated and secondary medical conditions, its management requires a multidisciplinary team approach

A case of minimal change disease during pregnancy – Benefits of early diagnosis and use of corticosteroids

2021 ◽  
pp. 1753495X2199021
Author(s):  
Priyanka S Sagar ◽  
Eddy Fischer ◽  
Muralikrishna Gangadharan Komala ◽  
Bhadran Bose
Keyword(s):  
Nephrotic Syndrome ◽  
Early Diagnosis ◽  
Renal Biopsy ◽  
Early Pregnancy ◽  
Minimal Change Disease ◽  
Minimal Change ◽  
Risk Of Bleeding ◽  
Increased Risk ◽  
Prompt Diagnosis ◽  
In Pregnancy

Nephrotic syndrome presenting in pregnancy is rare and poses a diagnostic and therapeutic challenge. Timing of renal biopsy is important given the increased risk of bleeding and miscarriage, and the choice of immunosuppression is limited due to the teratogenicity profiles of standard drugs. We report and discuss a case of minimal change disease diagnosed by renal biopsy during early pregnancy and treated with corticosteroids throughout the pregnancy. Prompt diagnosis and treatment of glomerular disease in pregnancy are vital to prevent poor maternal and fetal outcomes.

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