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  • 1
    In: Journal of Medical Genetics, BMJ, Vol. 59, No. 3 ( 2022-03), p. 220-229
    Abstract: Identifying patients with BRCA mutations is clinically important to inform on the potential response to treatment and for risk management of patients and their relatives. However, traditional referral routes may not meet clinical needs, and therefore, mainstreaming cancer genetics has been shown to be effective in some high-income and high health-literacy settings. To date, no study has reported on the feasibility of mainstreaming in low-income and middle-income settings, where the service considerations and health literacy could detrimentally affect the feasibility of mainstreaming. Methods The Mainstreaming Genetic Counselling for Ovarian Cancer Patients (MaGiC) study is a prospective, two-arm observational study comparing oncologist-led and genetics-led counselling. This study included 790 multiethnic patients with ovarian cancer from 23 sites in Malaysia. We compared the impact of different method of delivery of genetic counselling on the uptake of genetic testing and assessed the feasibility, knowledge and satisfaction of patients with ovarian cancer. Results Oncologists were satisfied with the mainstreaming experience, with 95% indicating a desire to incorporate testing into their clinical practice. The uptake of genetic testing was similar in the mainstreaming and genetics arm (80% and 79%, respectively). Patient satisfaction was high, whereas decision conflict and psychological impact were low in both arms of the study. Notably, decisional conflict, although lower than threshold, was higher for the mainstreaming group compared with the genetics arm. Overall, 13.5% of patients had a pathogenic variant in BRCA1 or BRCA2, and there was no difference between psychosocial measures for carriers in both arms. Conclusion The MaGiC study demonstrates that mainstreaming cancer genetics is feasible in low-resource and middle-resource Asian setting and increased coverage for genetic testing.
    Type of Medium: Online Resource
    ISSN: 0022-2593 , 1468-6244
    RVK:
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 2009590-9
    SSG: 12
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  • 2
    In: Epilepsy & Behavior, Elsevier BV, Vol. 145 ( 2023-08), p. 109266-
    Type of Medium: Online Resource
    ISSN: 1525-5050
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2023
    detail.hit.zdb_id: 2018844-4
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  • 3
    Online Resource
    Online Resource
    Malaysian Paediatric Association ; 2021
    In:  Malaysian Journal of Paediatrics and Child Health Vol. 27, No. 2 ( 2021-10-14), p. 23-27
    In: Malaysian Journal of Paediatrics and Child Health, Malaysian Paediatric Association, Vol. 27, No. 2 ( 2021-10-14), p. 23-27
    Abstract: SHORT Syndrome is a rare genetic condition with less than 50 cases reported worldwide. Its name is an acronym, represented by Short stature, Hyperextensibility of joints, Ocular depression, Rieger anomaly and Teething delay. Other associated features include intrauterine growth restriction, lipodystrophy, delayed bone age and progeroid appearance. Cognitive function is usually preserved. Our patient was a 7-year-old-boy, referred at 9 months old forsex chromosome mosaicism detected on his karyotype analysis. He was born term via normal vaginal delivery with a birth weight of 2.05 kg and good Apgar score. Antenatally, mother was diagnosed with diabetes mellitus not requiring insulin. From 7 months gestation, serial scans showed symmetrical intrauterine growth restriction (IUGR). Examination at birth revealed a baby small for age, with prominent ears and micrognathia. During his subsequent clinic visits, he manifested Russell-Silver-like phenotype; failure to thrive, broad forehead and triangular facies, although additional features of wrinkled skin over his hands and feet, deep set eyes, groove over his chin and large ears were also seen. Genetic studies for Russell-Silver Syndrome (RSS) and chromosomal microarray testing which was done subsequently, were both normal. His genetic condition remained elusive for many years. A clinical diagnosis of SHORT Syndrome was finally considered. Polymerase Chain Reaction (PCR) and direct sequencing method was used to analyse the targeted gene at Institute for Medical Research (IMR), Kuala Lumpur. A heterozygous mutation was detected at c.1945C 〉 T in exon 15 of PIK3R1 gene; which impairs cellular growth and proliferation. This case report discusses the differential diagnosis of a dysmorphic child with short stature with RSS -like phenotype.
    Type of Medium: Online Resource
    ISSN: 1511-4511
    Language: Unknown
    Publisher: Malaysian Paediatric Association
    Publication Date: 2021
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