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Genetic Syndrome

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1. Genetic testing for Alport syndrome

Genetic testing for Alport syndrome 1 Public Summary Document Application No. 1449 – Genetic testing for Alport syndrome Applicant: The University of Melbourne Department of Medicine Date of MSAC consideration: MSAC 72 nd Meeting, 28-29 March 2018 Context for decision: MSAC makes its advice in accordance with its Terms of Reference, visit the MSAC website 1. Purpose of application An application requesting Medicare Benefits Schedule (MBS) listing of genetic testing for the diagnosis of Alport (...) syndrome (AS) was received by the Department of Health from the Department of Medicine in the University of Melbourne. The proposed medical service is a genetic test for heritable mutations in clinically affected individuals and, when appropriate, in family members of those individuals who test positive for one or more relevant mutations. 2. MSAC’s advice to the Minister After considering the strength of the available evidence in relation to comparative safety, clinical effectiveness and cost

2018 Medical Services Advisory Committee

2. Genetic Syndromes and Gynecologic Implications in Adolescents

Genetic Syndromes and Gynecologic Implications in Adolescents Genetic Syndromes and Gynecologic Implications in Adolescents - ACOG Menu ▼ Genetic Syndromes and Gynecologic Implications in Adolescents Page Navigation ▼ Number 768 Committee on Adolescent Health Care The North American Society for Pediatric and Adolescent Gynecology endorses this document. This Committee Opinion was developed by the American College of Obstetricians and Gynecologists’ Committee on Adolescent Health Care (...) organizations are addressed by those organizations. The American College of Obstetricians and Gynecologists has neither solicited nor accepted any commercial involvement in the development of the content of this published product. Genetic Syndromes and Gynecologic Implications in Adolescents ABSTRACT: As adolescents with a genetic syndrome transition to adult medical care, they may be referred to obstetrician–gynecologists for routine preventive or contraceptive services, screening, or counseling

2019 American College of Obstetricians and Gynecologists

3. Clinical Utility Card - Genetic Testing for childhood syndromes

Clinical Utility Card - Genetic Testing for childhood syndromes 1 Public Summary Document Application No. 1476 – Genetic testing for childhood syndromes Applicant: Murdoch Children’s Research Institute Date of MSAC consideration: MSAC 74 th Meeting, 22-23 November 2018 MSAC 73 rd Meeting, 26-27 July 2018 Context for decision: MSAC makes its advice in accordance with its Terms of Reference, visit the MSAC website 1. Purpose of application An application requesting Medicare Benefit Schedule (MBS (...) (WEA) for childhood syndromes in affected individuals, with limited reanalysis, and targeted cascade testing of relatives of patients with a genetic diagnosis. MSAC advised in each case that testing should be once in a lifetime and that there should be post-implementation monitoring, particularly looking at the diagnostic yield for laboratories and requesters, who the requesters are, and the out-of-pocket costs for patients. MSAC also advised that the utilisation estimates needed further refinement

2018 Medical Services Advisory Committee

4. Understanding genetic tests for Lynch syndrome

Understanding genetic tests for Lynch syndrome Understanding genetic tests for Lynch syndrome Information and decision aidPrevious print: May 2008 Review and print: August 2010 Current print January 2014 This booklet was developed and printed with the support of: Hereditary Cancer Clinic, Prince of Wales Hospital Macquarie University Centre for Genetics Education, NSW Health, Royal North Shore Hospital Cancer Council NSW Who is this booklet for? This booklet is for anyone thinking about having (...) genetic testing for a rare group of cancers called Lynch syndrome. This syndrome is caused by a fault in genetic information resulting in a high risk of bowel cancer and some other cancers. Lynch syndrome was previously known as hereditary non-polyposis colorectal cancer (HNPCC). The information is not a replacement for discussing genetic testing with your doctor or family cancer service. Only some sections might be useful to you. This booklet combined with information from health professionals

2019 European Society of Endocrinology

5. Identification of female-specific genetic variants for metabolic syndrome and its component traits to improve the prediction of metabolic syndrome in females. (PubMed)

Identification of female-specific genetic variants for metabolic syndrome and its component traits to improve the prediction of metabolic syndrome in females. Metabolic syndrome (MetS), defined as a cluster of metabolic risk factors including dyslipidemia, insulin-resistance, and elevated blood pressure, has been known as partly heritable. MetS effects the lives of many people worldwide, yet females have been reported to be more vulnerable to this cluster of risks.To elucidate genetic variants (...) underlying MetS specifically in females, we performed a genome-wide association study (GWAS) for MetS as well as its component traits in a total of 9932 Korean female subjects (including 2276 MetS cases and 1692 controls). To facilitate the prediction of MetS in females, we calculated a genetic risk score (GRS) combining 14 SNPs detected in our GWA analyses specific for MetS.GWA analyses identified 14 moderate signals (Pmeta < 5X10- 5) specific to females for MetS. In addition, two genome-wide

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2019 BMC Medical Genetics

6. Genetic variant in vitamin D-binding protein is associated with metabolic syndrome and lower 25-hydroxyvitamin D levels in polycystic ovary syndrome: A cross-sectional study. (PubMed)

Genetic variant in vitamin D-binding protein is associated with metabolic syndrome and lower 25-hydroxyvitamin D levels in polycystic ovary syndrome: A cross-sectional study. Vitamin D deficiency has been related to metabolic syndrome (MetS) in polycystic ovary syndrome (PCOS). The vitamin D-binding protein (DBP) is the main protein involved in vitamin D transport. Two single-nucleotide polymorphisms (SNPs) of the DBP gene, rs4588 and rs7041, have been associated with low circulating levels (...) of 25-hydroxyvitamin D [25(OH)D] in various populations, but not in women with PCOS. Therefore, we determined the genotype and haplotype distribution of DBP gene polymorphisms and investigated the associations between these genetic variants and their haplotypes with PCOS, MetS, and 25(OH)D levels in women with PCOS and controls from the South of Brazil. The sample included 291 women (191 with PCOS and 100 controls). All participants were genotyped for polymorphisms rs2282679, rs4588, and rs7041

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2017 PLoS ONE

7. GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing. (PubMed)

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing. Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have (...) children through medically assisted procreation. These are genetic diseases that can be transmitted to patients' offspring. Importantly, patients and their families should be informed of this risk and given genetic counseling. CHH and KS are phenotypically and genetically heterogeneous diseases in which the risk of transmission largely depends on the gene(s) responsible(s). Inheritance may be classically Mendelian yet more complex; oligogenic modes of transmission have also been described

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2018 European Journal of Endocrinology

8. Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing. (PubMed)

Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing. The acquired and congenital forms of long QT syndrome represent 2 distinct but clinically and genetically intertwined disorders of cardiac repolarization characterized by the shared final common pathway of QT interval prolongation and risk of potentially life-threatening arrhythmias. Over the past 2 decades, our understanding of the spectrum of genetic variation that (1 (...) ) perturbs the function of cardiac ion channel macromolecular complexes and intracellular calcium-handling proteins, (2) underlies acquired/congenital long QT syndrome susceptibility, and (3) serves as a determinant of QT interval duration in the general population has grown exponentially. In turn, these molecular insights led to the development and increased utilization of clinically impactful genetic testing for congenital long QT syndrome. However, the widespread adoption and potential

2018 Circulation

9. BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing

BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing Final Recommendation Statement: BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing - US Preventive Services Task Force Search USPSTF Website Text size: Assembly version: 1.0.0.308 Last Build: 5/9/2019 1:01:08 PM You are here: Final Recommendation Statement : Final Recommendation Statement Final Recommendation Statement BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic (...) with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with breast cancer susceptibility 1 and 2 ( BRCA1/2) gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing. Women whose personal or family history or ancestry is not associated with potential harmful BRCA1/2 gene mutations The USPSTF

2019 U.S. Preventive Services Task Force

10. Genetics of syndromic and non-syndromic mitral valve prolapse. (PubMed)

Genetics of syndromic and non-syndromic mitral valve prolapse. Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial (...) clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the identification of prodromal or atypical forms as a part of the complex spectrum of the disease. Whereas autosomal dominant mode is the common inheritance pattern, an X linked form of non-syndromic MVP was recognised initially, related to Filamin-A gene, encoding for a cytoskeleton protein involved in mechanotransduction

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2018 Heart

11. Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis. (PubMed)

Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis. This study aimed to investigate the genetic mutation characteristics of Kallmann syndrome (KS) with CHARGE syndrome through the clinical features and genetic analysis of a pediatric patient with KS in one pedigree.Developmental disorders with olfactory abnormalities, developmental lag, heart malformations, external genital malformations.KS combined with some clinical characteristics (...) of CHARGE syndrome. Molecular genetic analysis found that mutation occurred in the CHD7 gene.One pediatric patient's clinical data were collected and genomic DNA extracted from the peripheral blood. Nextgeneration gene sequencing technology was used to detect pathogenic genes, and the Sanger method was applied to perform pedigree verification for the detected suspicious pathogenic mutations.Gene detection revealed there to be a heterozygous mutation in the CHD7 gene of the patient, which was a missense

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2018 Medicine

12. Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group. (PubMed)

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group. Mutations in the genes COL4A3, COL4A4, and COL4A5 affect the synthesis, assembly, deposition, or function of the collagen IV α345 molecule, the major collagenous constituent of the mature mammalian glomerular basement membrane. These mutations are associated with a spectrum of nephropathy, from microscopic hematuria to progressive renal (...) disease leading to ESRD, and with extrarenal manifestations such as sensorineural deafness and ocular anomalies. The existing nomenclature for these conditions is confusing and can delay institution of appropriate nephroprotective therapy. Herein we propose a new classification of genetic disorders of the collagen IV α345 molecule with the goal of improving renal outcomes through regular monitoring and early treatment.Copyright © 2018 International Society of Nephrology. Published by Elsevier Inc. All

2018 Kidney International

13. Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea (PubMed)

Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea There has been a campaign by the National Education on Sleeping Habits and Living Environment, to reduce the incidence of sudden infant death syndrome (SIDS). However, more than 100 infants die suddenly and unexplainably before the age of 1 year in Korea. Long QT syndrome (LQTS), an inheritable cardiac disease, has been reported to likely be associated with up to 14 (...) % of SIDS cases. However, genetic studies of the association between SIDS and LQTS have not yet been conducted in Korea.We conducted genetic analysis using genomic DNA extracted from paraffin-embedded tissue blocks from 200 SIDS cases autopsied between 2005 and 2013. We analyzed the following genetic mutations associated with LQTS, KCNQ1, SCN5A, KCNE1, KCNE2, KCNJ2, and CAV3.Of the 200 SIDS cases, 58% involved male infants (116 male and 84 female infants, respectively), the mean age was 140 days (median

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2018 Journal of Korean medical science

14. Cyst or odontogenic tumor? An extensive systematic review of the biological behavior, local aggressiveness and genetic profile of the non-syndromic odontogenic keratocyst (OKC)

Cyst or odontogenic tumor? An extensive systematic review of the biological behavior, local aggressiveness and genetic profile of the non-syndromic odontogenic keratocyst (OKC) Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability

2019 PROSPERO

15. Prevalence of anxiety symptomatology in genetic syndromes: a systematic review and meta-analysis

Prevalence of anxiety symptomatology in genetic syndromes: a systematic review and meta-analysis Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration record, any associated files or external

2019 PROSPERO

16. Genetic variants underlying mandible-related phenotypes in non-syndromic individuals: a systematic review and meta-analysis

Genetic variants underlying mandible-related phenotypes in non-syndromic individuals: a systematic review and meta-analysis Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration record, any

2019 PROSPERO

17. Concept Clearance » Rare Genetic Syndromes as a Window into the Genetic Architecture of Mental Disorders

Concept Clearance » Rare Genetic Syndromes as a Window into the Genetic Architecture of Mental Disorders NIMH » Rare Genetic Syndromes as a Window into the Genetic Architecture of Mental Disorders Mental Health Information Outreach Research Funding News & Events About Us Transforming the understanding and treatment of mental illnesses. Search the NIMH Website: > > > Concept Clearance • May 25, 2017 Presenter: Geetha Senthil, Ph.D. Office of Genomics Research Coordination Goal: This initiative (...) would foster collaborative and coordinated efforts to characterize the underlying genetic architecture of diverse neuropsychiatric phenotypes within and across rare genetic syndromes and identify the shared genetic risk with idiopathic neuropsychiatric disorders. Rationale: Subjects with rare genetic lesions of large effect, such as single gene mutations (e.g., MECP2, CHD8, SCN2A) and copy number variants (e.g., 3q29 Del, 16p11.2 Del/Dup, 22q11.2 Del/Dup), are at an elevated risk for developing

2017 NIMH blog

18. Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential (PubMed)

Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential We present a case of haemolytic uraemic syndrome (HUS) in a 16-year-old female with serological evidence of acute Escherichia coli O157:H7 infection. She progressed to established renal failure and received a deceased donor kidney transplant. Shiga toxin-associated HUS (STEC-HUS) does not recur following renal transplantation, but unexpectedly this patient did (...) experience rapid and severe HUS recurrence. She responded to treatment with the terminal complement inhibitor eculizumab and subsequent genetic analysis revealed a rare variant in a complement gene. This highlights the importance of genetic analysis in patients with STEC-HUS prior to renal transplantation so that management can be individualized.

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2017 Clinical kidney journal

19. Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON (PubMed)

Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON In this study, the authors present a sample of 71 patients with hereditary optic neuropathy and negative genetic test results for OPA1/OPA3/LHON. All of these patients later underwent genetic testing to rule out WFS. As a result, 53 patients (74.7%) were negative and 18 patients (25.3%) were positive for some type of mutation (...) or variation in the WFS gene. The authors believe that this study is interesting because it shows that a sizeable percentage (25.3%) of patients with hereditary optic 25 neuropathy and negative genetic test results for OPA1/OPA3/LHON had WFS mutations or variants.

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2017 Neuro-Ophthalmology

20. Genetic basis of motoric cognitive risk syndrome in the Health and Retirement Study. (PubMed)

Genetic basis of motoric cognitive risk syndrome in the Health and Retirement Study. To examine polygenic inheritance of motoric cognitive risk syndrome (MCR), a predementia syndrome characterized by the presence of subjective cognitive complaints and slow gait.We analyzed 4,915 individuals, age 65 years and above, with European ancestry (mean age 75.0 ± 6.8 years, 56.6% women) in the Health and Retirement Study. Polygenic scores (PGS) were calculated as weighted sums of the effect of single (...) ) was protective. PGS for BMI (OR 1.16, 95% CI 1.06-1.28), waist circumference (OR 1.19, 95% CI 1.08-1.31), and AD (OR 1.13, 95% CI 1.03-1.24) was associated with slow gait.Obesity-related genetic traits increase risk of MCR syndrome; further investigation is required to identify potential therapeutic targets.© 2019 American Academy of Neurology.

2019 Neurology

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