MyMedR

Displaying publications 21 - 28 of 28 in total

Abstract:

Sort:

Diagnosis and management of Duchenne muscular dystrophy in a developing country over a 10-year period

Thong MK, Bazlin RI, Wong KT

Dev Med Child Neurol, 2005 Jul;47(7):474-7.
PMID: 15991868

Clinical data on Duchenne muscular dystrophy (DMD) are lacking in developing countries. The objective of this study was to delineate the demographic characteristics, investigations, and outcome of 21 Malaysian males diagnosed with DMD over a period of 10 years. Mean age presentation was 3 years 8 months (SD 23mo; range 10 to 84mo), mean duration from first presentation to diagnosis was 3y 7mo (SD 26mo; range 5 to 84) and the mean age for loss of ambulation was 11 years (SD 25mo; range 102 to 168). There was family history of DMD in five of the 21 patients. Muscle biopsy showed confirmatory findings of DMD in the 16 patients tested. Molecular genetic analysis showed dystrophin gene deletions in 11 of these 16 patients. Four and seven of the students stopped schooling and had learning difficulties, respectively; only nine had satisfactory school performances. Eight out of 14 patients evaluated were classified as having severe to total dependency levels on the modified Barthel Index for activities of daily living assessment. DMD is associated with significant medical and social needs for a developing country such as Malaysia. Earlier referral, genetic counselling, and provision of support and rehabilitative services are the main priorities.

Matched MeSH terms: Genetic Counseling
α-thalassemia-associated hydrops fetalis: A rare cause of thyrotoxic cardiomyopathy

Tumian NR, Wong M, Wong CL

J Obstet Gynaecol Res, 2015 Jun;41(6):967-70.
PMID: 25510540 DOI: 10.1111/jog.12648

α°-thalassemia is a well-known cause of hydrops fetalis in South-East Asia and can be detected in utero. We report a very rare case of thyrotoxic cardiomyopathy associated with hyperplacentosis secondary to α°-thalassemia-associated hydrops fetalis. A 22-year-old primigravida with microcytic anemia presented at 27 weeks' gestation with pre-eclampsia, hyperthyroidism and cardiac failure. Serum β-human chorionic gonadotrophin was markedly elevated and abdominal ultrasound revealed severe hydropic features and enlarged placenta. Serum β-human chorionic gonadotrophin, cardiac function and thyroid function tests normalized after she delivered a macerated stillbirth. Histopathology of the placenta showed hyperplacentosis. Blood DNA analysis revealed that both patient and husband have the α°-thalassemia trait. This case illustrates a very atypical presentation of α°-thalassemia-associated hydrops fetalis and the importance of early prenatal diagnosis of α-thalassemia in women of relevant ethnic origin with microcytic anemia so that appropriate genetic counseling can be provided to reduce maternal morbidity and the incidence of hydrops fetalis.

Matched MeSH terms: Genetic Counseling
The influence of Malay cultural beliefs on breast cancer screening and genetic testing: A focus group study

Shaw T, Ishak D, Lie D, Menon S, Courtney E, Li ST, et al.

Psychooncology, 2018 12;27(12):2855-2861.
PMID: 30264524 DOI: 10.1002/pon.4902

OBJECTIVE: Malays comprise an Asian cultural group reported to have low breast cancer screening uptake rates and poor cancer outcomes. Little is known about Malay cultural factors influencing beliefs and practice of cancer screening and genetic testing. Our study aims to explore health beliefs of Malay women around breast cancer screening and genetic testing.
METHODS: We conducted focus groups among healthy English-speaking Malay women in Singapore, aged 40 to 69 years, using a structured guide developed through literature review, expertise input and participant refinement. Thematic analysis was conducted to extract dominant themes representing key motivators and barriers to screening and genetic testing. We used grounded theory to interpret results and derive a framework of understanding, with implications for improving uptake of services.
RESULTS: Five focus groups (four to six participants per group) comprising 27 women were conducted to theme saturation. Major themes were (a) spiritual and religious beliefs act as barriers towards uptake of screening and genetic testing; (b) preference for traditional medicine competes with Western medicine recommendations; (c) family and community influence health-related decisions, complexed by differences in intergenerational beliefs creating contrasting attitudes towards screening and prevention.
CONCLUSIONS: Decisions to participate in breast cancer screening and genetic testing are influenced by cultural, traditional, spiritual/religious, and intergenerational beliefs. Strategies to increase uptake should include acknowledgement and integration of these beliefs into counseling and education and collaboration with key influential Malay stakeholders and leaders.

Matched MeSH terms: Genetic Counseling/psychology*
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

Watts GF, Gidding S, Wierzbicki AS, Toth PP, Alonso R, Brown WV, et al.

Eur J Prev Cardiol, 2015 Jul;22(7):849-54.
PMID: 24776375 DOI: 10.1177/2047487314533218

Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remains undetected and current treatment is often suboptimal.To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed.This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgment and be adjusted for country-specific and local healthcare needs and resources.

Matched MeSH terms: Genetic Counseling/standards
Fulltext Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life

Thong MK, Boey CC, Sheng JS, Ushikai M, Kobayashi K

Singapore Med J, 2010 Jan;51(1):e12-4.
PMID: 20200759

We report two Malaysian siblings with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The younger sibling, a six-month-old Chinese girl, presented with prolonged neonatal jaundice, and was investigated for biliary atresia. Urine metabolic screen showed the presence of urinary-reducing sugars, and she was treated with a lactose-free formula. NICCD was suspected based on the clinical history, examination and presence of urinary citrulline. Mutation study of the SLC25A13 gene showed the compound heterozygotes, 851del4 and IVS16ins3kb, which confirmed the diagnosis of NICCD in the patient and her three-year-old female sibling, who also had unexplained neonatal cholestasis. Long-term dietary advice, medical surveillance and genetic counselling were provided to the family. The diagnosis of NICCD should be considered in infants with unexplained prolonged jaundice. DNA-based genetic testing of the SLC25A13 gene may be performed to confirm the diagnosis retrospectively. An awareness of this condition may help in early diagnosis using appropriate metabolic and biochemical investigations, thus avoiding invasive investigations in infants with neonatal cholestasis caused by NICCD.

Matched MeSH terms: Genetic Counseling
Fulltext Oral hyperpigmented lesions--a case study

Kwa SK, Gupta ED

Aust Fam Physician, 2013 Jul;42(7):490-1.
PMID: 23826603

An overweight woman, aged 58 years, presented for follow up of hypertension, diabetes and dyslipidaemia. She was noted to have hyperpigmented brown macules on the inner surface of the lower lip and buccal mucosa (Figure 1). She stated that she had first noticed these lesions when aged in her 40s. Her mother died at age 58 years from gastric cancer with extensive metastases, and her brother died at age 45 years from colon cancer with spread to the liver and lungs.

Matched MeSH terms: Genetic Counseling
Insulin-dependent diabetes mellitus: strategy for prevention and management

Wong HB

Ann Acad Med Singap, 1985 Apr;14(2):334-42.
PMID: 4037695

Insulin-dependent diabetes mellitus (IDDM) is inherited in a multifactorial manner with polygenes and environmental factors contributing to its emergence in a particular individual. The evidence for such a mode of inheritance is reviewed. One of the most important genetic roles is that played by the HLA genes on chromosome 6 and the different alleles which increase or decrease susceptibility in Caucasians, Japanese, Singapore Chinese and Shanghai Chinese are described. It is inferred that these alleles are different in different ethnic groups. The other genes which are important are unknown. The environmental influences are less well known although viral infections may act as triggers. Because the morbidity and mortality are still extremely serious in IDDM patients in spite of insulin therapy, it is proposed that preventive measures should be instituted in families prone to IDDM. The role of prenatal diagnosis is discussed especially in those families with multiple HLA susceptibility genes present. Great care paid to management of hyperglycemia from onset of the disease may reduce future morbidity and mortality.

Matched MeSH terms: Genetic Counseling
Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation

Thong MK, Fietz M, Nicholls C, Lee MH, Asma O

J Inherit Metab Dis, 2009 Dec;32 Suppl 1:S41-4.
PMID: 19165618 DOI: 10.1007/s10545-009-1031-1

There are few reports of congenital disorders of glycosylation (CDGs) in the Asian population, although they have been reported worldwide. We identified a Malaysian infant female at 2 days of life with CDG type Ia. The diagnosis was suspected on the basis of inverted nipples and abnormal fat distribution. She had cerebellar hypoplasia and developed coagulopathy, hypothyroidism and severe pericardial effusion and died at 7 months of life. The diagnosis was supported by abnormal serum transferrin isoform pattern that showed elevated levels of the disialotransferrin isoform and trace levels of the asialotransferrin isoform. Enzyme testing of peripheral leukocytes showed decreased level of phosphomannomutase (PMM) activity (0.6 nmol/min per mg protein, normal range 1.6-6.2) and a normal level of phosphomannose isomerase activity (19 nmol/min per mg protein, normal range 12-25), indicating a diagnosis of CDG type Ia. Mutation study of the PMM2 gene showed the patient was heterozygous for both the common p.R141H (c.422T>A) mutation and a novel sequence change in exon 7, c.618C>A. The latter change is predicted to result in the replacement of the highly conserved phenylalanine residue at position 206 with a leucine residue (p.F206L) and occurs in the same codon as the previously reported p.F206S mutation. Analysis of 100 control chromosomes has shown that the p.F206L sequence change is not present, making it highly likely that this change is functionally important. To the best of our knowledge, this is the first report of CDG in the Malay population. Prenatal diagnosis was successfully performed in a subsequent pregnancy for this family.

Matched MeSH terms: Genetic Counseling