Displaying publications 1 - 20 of 44 in total

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  1. Abdullah H, Abdul Wahab N, Abu Bakar K
    BMJ Case Rep, 2017 Jun 13;2017.
    PMID: 28611167 DOI: 10.1136/bcr-2017-219793
    Matched MeSH terms: Twins, Conjoined*
  2. Al-Chalabi MMM, Wan Sulaiman WA
    Cureus, 2021 Jan 21;13(1):e12834.
    PMID: 33633877 DOI: 10.7759/cureus.12834
    Tibial hemimelia is a relatively rare congenital tibial longitudinal deficiency (approximately 1 per 1 million live births), unilateral or bilateral, with a relatively intact fibula. Hemimelia results from a disruption of the lower limb developmental field during embryogenesis due to slow or even abort of chondrification process, which results in leg length discrepancy. Affected leg commonly appears short and deformed with knee, ankle, and foot involvement. It may present with a variety of associated anomalies. Surgical treatment varies according to the type and degree of deformity, and reconstructive interventions are still limited. Reported cases of tibial hemimelia are very infrequent, especially tibial hemimelia in twins. Usually, the cases were in single embryo or less frequently in one of the monozygotic twins, but no reported cases regarding tibial hemimelia in one of the dizygotic twins as this article reports.
    Matched MeSH terms: Twins, Dizygotic; Twins, Monozygotic
  3. Anna Liza R, Alik RZ, Ahmad Murad Z, Ghazali I
    Med J Malaysia, 2008 Aug;63(3):263-4.
    PMID: 19248707 MyJurnal
    Premature Ovarian Failure (POF) is associated with subfertility. Despite efforts to induce ovulation, success rates are low. We report a case of POF spontaneously conceiving twins while on hormone replacement therapy.
    Matched MeSH terms: Twins
  4. Balraj P, Concannon P, Jamal R, Beghini A, Hoe TS, Khoo AS, et al.
    Mutat Res, 2002 Oct 31;508(1-2):99-105.
    PMID: 12379465
    Rothmund-Thomson syndrome (OMIM #268400) is a severe autosomal recessive genodermatosis: characterised by growth retardation, hyperpigmentation and frequently accompanied by congenital bone defects, brittle hair and hypogonadism. Mutations in helicase RECQ4 gene are responsible for a subset of cases of RTS. Only six mutations have been reported, thus, far and each affecting the coding sequence or the splice junctions. We report the first homozygous mutation in RECQ4 helicase: 2746-2756-delTGGGCTGAGGC in IVS8 responsible for the severe phenotype associated with RTS in a Malaysian pedigree. We report also a 5321 G-->A transition in exon 17 and the updated list of the RECQ4 gene mutations.
    Matched MeSH terms: Diseases in Twins; Twins, Dizygotic
  5. Baskaran A
    Med J Malaysia, 1997 Sep;52(3):291-2.
    PMID: 10968100
    Conjoined twins in a triplet pregnancy is an extremely rare occurrence. We present here, a 27-year-old multigravida with gestational diabetes and a conjoined twins in a triplet pregnancy.
    Matched MeSH terms: Twins, Conjoined*
  6. Boo NY, Mahmud MN, Samad SA
    Acta Paediatr Scand, 1991 6 1;80(6-7):735-7.
    PMID: 1867096
    One of the babies in a pair of xiphaomphalopagus conjoined twins developed oliguria, transient rise in serum creatinine and persistent nephrogram on the sixth day of life following injection of radiocontrast medium for computerised axial tomography scanning of the urinary system. The other twin was spared but developed hypertension and "dialysed" the oliguric twin. The renal profiles of both neonates subsequently remained normal until they reached adequate weight for surgical separation at a later date.
    Matched MeSH terms: Twins, Conjoined*
  7. Byrne EM, Psychiatric Genetics Consortium Major Depressive Disorder Working Group, Raheja UK, Stephens SH, Heath AC, Madden PA, et al.
    J Clin Psychiatry, 2015 Feb;76(2):128-34.
    PMID: 25562672 DOI: 10.4088/JCP.14m08981
    OBJECTIVE: To test common genetic variants for association with seasonality (seasonal changes in mood and behavior) and to investigate whether there are shared genetic risk factors between psychiatric disorders and seasonality.

    METHOD: Genome-wide association studies (GWASs) were conducted in Australian (between 1988 and 1990 and between 2010 and 2013) and Amish (between May 2010 and December 2011) samples in whom the Seasonal Pattern Assessment Questionnaire (SPAQ) had been administered, and the results were meta-analyzed in a total sample of 4,156 individuals. Genetic risk scores based on results from prior large GWAS studies of bipolar disorder, major depressive disorder (MDD), and schizophrenia were calculated to test for overlap in risk between psychiatric disorders and seasonality.

    RESULTS: The most significant association was with rs11825064 (P = 1.7 × 10⁻⁶, β = 0.64, standard error = 0.13), an intergenic single nucleotide polymorphism (SNP) found on chromosome 11. The evidence for overlap in risk factors was strongest for schizophrenia and seasonality, with the schizophrenia genetic profile scores explaining 3% of the variance in log-transformed global seasonality scores. Bipolar disorder genetic profile scores were also associated with seasonality, although at much weaker levels (minimum P value = 3.4 × 10⁻³), and no evidence for overlap in risk was detected between MDD and seasonality.

    CONCLUSIONS: Common SNPs of large effect most likely do not exist for seasonality in the populations examined. As expected, there were overlapping genetic risk factors for bipolar disorder (but not MDD) with seasonality. Unexpectedly, the risk for schizophrenia and seasonality had the largest overlap, an unprecedented finding that requires replication in other populations and has potential clinical implications considering overlapping cognitive deficits in seasonal affective disorders and schizophrenia.

    Matched MeSH terms: Diseases in Twins/diagnosis; Diseases in Twins/genetics; Diseases in Twins/psychology
  8. Chan KS, Chuang YC, Lin TY, Shaw SW
    J Formos Med Assoc, 2021 Jun;120(6):1394-1399.
    PMID: 33583701 DOI: 10.1016/j.jfma.2021.01.022
    Acardiac twin or twin reversed arterial perfusion (TRAP) sequence is a rare medical complication of Monozygotic twins. Taiwanese Obstetricians usually treat TRAP sequence conservatively. Occasionally, repeated amnio-reduction is performed to decompress the polyhydramnios caused by the TRAP sequence, even though there was no correction of the pathophysiologic mechanism. Radiofrequency ablation is a minimally invasive, percutaneous technique that can effectively obliterate blood supply to an acardiac twin to preserve and protect the pump twin. This recent technique has never been used before for the treatment of the TRAP sequence in Taiwan. This article reported the first-hand experience of acardiac twin management with RFA in Taipei Chang Gung Memorial Hospital.
    Matched MeSH terms: Twins
  9. Chan YK, Loh PS
    Med Hypotheses, 2016 Sep;94:108-11.
    PMID: 27515214 DOI: 10.1016/j.mehy.2016.06.018
    More than 90% of the human species are right handed. Although outwardly our body appears symmetrical, a 50/50% lateralization in handedness never occurs. Neither have we seen more than 50% left handedness in any subset of the human population. By 12-15weeks of intrauterine life, as many as 6 times more fetuses are noted by ultrasound studies to be sucking on their right thumbs. Distinct difference in oxygenation leading to dissimilar energy availability between right and left subclavian arteries in place by week 9 of life may hold the clue to the lateralization of hand function and eventually, the same in the brain. We know there is a higher incidence of left handedness in males, twins, premature babies and those born to mothers who smoke. They may represent a subset with less distinct difference in oxygenation between the 2 subclavian arteries during the fetal stage. This hypothesis if correct not only closes the gap in understanding human handedness and lateralization but also opens a vista for new research to focus on in utero tissue energy availability and its impact on outcome in life.
    Matched MeSH terms: Twins
  10. Chin YM, Wan Ariffin A, Lin HP, Chan YS
    Med J Malaysia, 1996 Mar;51(1):145-8.
    PMID: 10967997
    Two 4-year-old monozygotic Chinese, female twins developed concordant childhood acute lymphoblastic leukemia (ALL) within an interval of about 2 weeks. Based on morphology and cytochemistry findings of the bone marrow blast cells, a diagnosis of ALL, L1 was made. Immunophenotyping showed the blast cells of both twins expressed similar antigens, i.e. HLA-DR, CD10, CD13, CD19, CD22 and CD34. Identical blood group, same HLA (human leucocyte antigen) genotype, sex and similar appearance suggest that the twins are monozygotic. Since the bone marrow leukemic cells of both twins were identical in morphology and expressed the same antigens with almost similar percentages of positivity, it is likely that the blast cells were derived from the same single clone. Based on the single clone hypothesis, the leukemogenic event must have arisen in utero in one twin and the cells from the abnormal clone then spread to the other twin via shared placental anastomoses.
    Matched MeSH terms: Diseases in Twins*; Twins, Monozygotic*
  11. Choo KE, Nicoli TK, Bruce LJ, Tanner MJ, Ruiz-Linares A, Wrong OM
    Pediatr Nephrol, 2006 Feb;21(2):212-7.
    PMID: 16252102
    Mutations of the AE1 (SLC4A1, Anion-Exchanger 1) gene that codes for band 3, the renal and red cell anion exchanger, are responsible for many cases of familial distal renal tubular acidosis (dRTA). In Southeast Asia this disease is usually recessive, caused either by homozygosity of a single AE1 mutation or by compound heterozygosity of two different AE1 mutations. We describe two unrelated boys in Sarawak with dRTA associated with compound heterozygosity of AE1 mutations. Both had Southeast Asian ovalocytosis (SAO), a morphological abnormality of red cells caused by a deletion of band 3 residues 400-408. In addition, one boy had a DNA sequence abnormality of band 3 residue (G701D), which has been reported from elsewhere in Southeast Asia. The other boy had the novel sequence abnormality of band 3 (Q759H) and profound hemolytic anemia.
    Matched MeSH terms: Diseases in Twins/genetics*
  12. Halim AS, Emami A, Salahshourifar I, Kannan TP
    Arch Plast Surg, 2012 May;39(3):184-9.
    PMID: 22783524 DOI: 10.5999/aps.2012.39.3.184
    Keloid disease is a fibroproliferative dermal tumor with an unknown etiology that occurs after a skin injury in genetically susceptible individuals. Increased familial aggregation, a higher prevalence in certain races, parallelism in identical twins, and alteration in gene expression all favor a remarkable genetic contribution to keloid pathology. It seems that the environment triggers the disease in genetically susceptible individuals. Several genes have been implicated in the etiology of keloid disease, but no single gene mutation has thus far been found to be responsible. Therefore, a combination of methods such as association, gene-gene interaction, epigenetics, linkage, gene expression, and protein analysis should be applied to determine keloid etiology.
    Matched MeSH terms: Twins, Monozygotic
  13. Haranal M, Leong MC, Muniandy SR, Khalid KF, Sivalingam S
    Ann Thorac Surg, 2020 10;110(4):e327-e329.
    PMID: 32224240 DOI: 10.1016/j.athoracsur.2020.02.039
    Conjoined twins are rare congenital malformations known to be associated with cardiac abnormalities. Management of transposition of the great arteries with an intact ventricular septum in this subgroup of patients is challenging, especially in the presence of multiple comorbidities. Prevention of left ventricular involution until the patient is stable for an arterial switch operation is a real challenge. We report a case of early ductal stenting to keep the left ventricle well trained in a separated conjoined twin who eventually underwent an arterial switch operation.
    Matched MeSH terms: Diseases in Twins*; Twins, Conjoined*
  14. Hook SA, Musa SM, Ripley DM, Hibbitt JD, Grunow B, Moritz T, et al.
    PLoS One, 2019;14(12):e0224397.
    PMID: 31790403 DOI: 10.1371/journal.pone.0224397
    Elasmobranchs display various reproductive modes, which have been key to their evolutionary success. In recent decades there has been a rise in the number of reported cases of foetal abnormalities including fertilised, double-embryos held within one egg capsule, hereafter referred to as twins. Previously, the occurrences of twin egg cases have been reported in two batoid and one shark species. We report the first cases of twins in three species of oviparous elasmobranchs: the undulate ray (Raja undulata), the nursehound (Scyliorhinus stellaris), and the small-spotted catshark (Scyliorhinus canicula). We investigated the genetic relationships between the twins in S. stellaris, and S. canicula using microsatellite markers. Whilst the S. stellaris twins displayed the same genotypes, we found that the S. canicula twin individuals arose through heteropaternal superfecundation. This is the first reported incidence of such a paternity in elasmobranchs. The relationship between environmental change and reproductive strategy in elasmobranchs is unclear and further research is needed to determine its effect on the prevalence and mechanisms of formation of elasmobranch twins.
    Matched MeSH terms: Twins/genetics*
  15. Hung TH, Hsieh TT, Shaw SW, Kok Seong C, Chen SF
    J Diabetes Investig, 2021 Jun;12(6):1083-1091.
    PMID: 33064935 DOI: 10.1111/jdi.13441
    AIMS/INTRODUCTION: The association between gestational diabetes mellitus (GDM) and adverse maternal and perinatal outcomes in twin pregnancies remains unclear. This study was undertaken to highlight risk factors for GDM in women with dichorionic (DC) twins, and to determine the association between GDM DC twins and adverse maternal and perinatal outcomes in a large homogeneous Taiwanese population.

    MATERIALS AND METHODS: A retrospective cross-sectional study was carried out on 645 women with DC twins, excluding pregnancies complicated by one or both fetuses with demise (n = 22) or congenital anomalies (n = 9), who gave birth after 28 complete gestational weeks between 1 January 2001 and 31 December 2018. Univariable and multiple logistic regression analyses were carried out.

    RESULTS: Maternal age >34 years (adjusted odds ratio 2.52; 95% confidence interval 1.25-5.07) and pre-pregnancy body mass index >24.9 kg/m2 (adjusted odds ratio 2.83, 95% confidence interval 1.47-5.46) were independent risk factors for GDM in women with DC twins. Newborns from women with GDM DC twins were more likely to be admitted to the neonatal intensive care unit (adjusted odds ratio 1.70, 95% confidence interval 1.06-2.72) than newborns from women with non-GDM DC twins. Other pregnancy and neonatal outcomes were similar between the two groups.

    CONCLUSIONS: Advanced maternal age and pre-pregnancy overweight or obesity are risk factors for GDM in women with DC twins. Except for a nearly twofold increased risk of neonatal intensive care unit admission of newborns, the pregnancy and neonatal outcomes for women with GDM DC twins are similar to those for women with non-GDM DC twins.

    Matched MeSH terms: Twins, Dizygotic/statistics & numerical data*
  16. Jahanfar S, Lye MS, Krishnarajah IS
    Indian J Hum Genet, 2013 Apr;19(2):245-50.
    PMID: 24019629 DOI: 10.4103/0971-6866.116127
    INTRODUCTION: Menarche or first menstrual period is a landmark in reproductive life span and it is the most prominent change of puberty. The timing of menarche can be under the influence of genes as well as individual environmental factors interacting with genetic factors.

    OBJECTIVE: Our study objectives were (a) to investigate the heritability of age of menarche in twins, (b) to obtain the association between age of menarche and childhood factors, and reproductive events/behavior, (c) to examine whether or not having a male co-twin affects early/late menarche.

    METHODOLOGY: A group of female-female identical (n = 108, 54 pairs), non-identical twins (n = 68, 34 pairs) and 17 females from opposite-sex twin sets were identified from twin registries of Malaysia and Iran. Genetic analysis was performed via two methods of Falconers' formula and maximum likelihood.

    RESULTS: Heritability was found to be 66% using Falconers' formula and 15% using univariate twin analysis. Model analysis revealed that shared environmental factors have a major contribution in determining the age of menarche (82%) followed by non-shared environment (18%).

    DISCUSSION: Result of this study is consistent with that of the literature. Timing of menarche could be under the influence of shared and non-shared environmental effects. Hirsutism was found to have a higher frequency among subjects with late menarche. There was no significant difference in age of menarche between females of opposite-sex twins and females of same-sex twins.

    CONCLUSION: It is concluded that twin models provide a powerful means of examining the total genetic contribution to age of menarche. Longitudinal studies of twins may clarify the type of environmental effects that determine the age of menarche.

    Matched MeSH terms: Twins
  17. Jahanfar S, Jaffar SH
    Twin Res Hum Genet, 2013 Feb;16(1):246-7.
    PMID: 23110917 DOI: 10.1017/thg.2012.80
    The National Malaysian Twin Registry was established in Royal College of Medicine, Perak, University Kuala Lumpur (UniKL) in June 2008 through a grant provided by UniKL. The general objective is to facilitate scientific research involving participation of twins and their family members in order to answer questions of health and wellbeing relevant to Malaysians. Recruitment is done via mass media, poster, and pamphlets. We now have 266 adult and 204 children twins registered. Several research projects including reproductive health study of twins and the role of co-bedding on growth and development of children are carried out. Registry holds annual activities for twins and seeks to provide health-related information for twins. We seek international collaboration.
    Matched MeSH terms: Diseases in Twins/diagnosis*; Diseases in Twins/genetics; Diseases in Twins/epidemiology; Twins/genetics*
  18. Jahanfar S
    Ann Hum Biol, 2018 Aug;45(5):395-400.
    PMID: 30328724 DOI: 10.1080/03014460.2018.1526320
    BACKGROUND: Genetic and environmental influences on anthropometric measures can be investigated by comparing dizygotic (DZ) versus monozygotic (MZ) twins. Investigating cohorts living in different geographical areas across the globe can identify the variation in heritability versus environment.

    AIMS: (1) To investigate the association between birth weight and anthropometric measurements during adulthood; (2) to study the genetic and environmental influences on body measures including birth weight, weight and height among twins; and (3) to assess the variation in heritability versus environment among two cohorts of twins who lived in different geographical areas.

    SUBJECTS AND METHODS: Twins were collected from two twin registers. Data on birth weight, adult weight and height in 430 MZ and 170 DZ twins living in two geographically distinct parts of the world were collected. A genetic analysis was performed using MX software.

    RESULTS: Birth weight was associated with weight, height and BMI. Both MZ and DZ twins with low birth weight had shorter height during their adult life (p = 0.001), but only MZ twins with lower birth weight were lighter at adulthood (p = 0.001). Intra-pair differences in birth weight were not associated with differences in adult height (p = 0.366) or weight (p = 0.796). Additive genetic effects accounted for 53% of the variance in weight, 43% in height and 55% in birth weight. The remaining variance was attributed to unique environmental effects (15% for weight, 13% for height and 45% for birth weight and only 16% for BMI). Variability was found to be different in the two cohorts. The best fitting model for birth weight and BMI was additive genetic and non-shared environment and for weight and height was additive genetic, non-shared environment (plus common Environment).

    CONCLUSIONS: Data suggests that the association between weight at birth and anthropometric measures in later life is influenced by both genetic and environmental factors. Living in different environments can potentially relate to variation found in the environment.

    Matched MeSH terms: Twins, Dizygotic*; Twins, Monozygotic*
  19. Jahanfar Sh, Maleki H, Mosavi AR
    Med J Malaysia, 2005 Oct;60(4):441-6.
    PMID: 16570705
    The genetic property of subclinical eating behaviour (SEB) and the link between SEB and polycystic ovary syndrome (PCOS) has been studied before but the role of leptin within this connection has never been investigated. The objective of this study was 1). to study the genetic property of SEB. 2). To find a link between leptin, SEB and PCOS. One hundred and fifty four (77 pairs) female-female Iranian twins including 96 MZ individuals (48 pairs) and 58 DZ individuals (29 pairs) participated in the study. Clinical, biochemical and ultrasound tools were used to diagnose polycystic ovary syndrome. BITE questionnaire was filled out for subjects. Eight percent of subjects were diagnosed for subclinical eating disorder. No significant difference was found between intraclass correlation of MZ and DZ (z = 0.57, P = 0.569). Serum leptin level correlated significantly with bulimia score (P < 0.007). The mean (+/-SD) value for bulimia score was found to be higher among PCOS(positive) subjects (3.27 +/- 5.51) in comparison with PCOS(negative) subjects (2.06 +/- 4.48) (P < 0.001). The genetic property of subclinical eating disorder was not confirmed as shared environment might have played a major role in likeliness of DZ twins as well as MZ. Leptin is linked with both subclinical eating disorder and PCOS.
    Matched MeSH terms: Twins, Dizygotic; Twins, Monozygotic
  20. Jahanfar, S.
    Malays Fam Physician, 2008;3(2):111-112.
    PMID: 25606132 MyJurnal
    A twin registry is a registry of twin pairs (monozygotic = MZ and Dizygotic = DZ) who are willing to consider participating in health-related research. Twins are able to help researchers study the impact of genetic and environmental factors on health and the treatment and prevention of disease in a special way. Throughout the world, twin registries have been established by the governments via the National Health and Medical Research in order to put researchers in touch with twins who might be willing to take part in particular projects. In Australia, for example, more than 30,000 pairs of twins have joined the registry, making it the largest volunteer registry of its kind in the world. However, in some countries such as Denmark, the first twin registry was born in a medical faculty and it was then expanded to the National Twin Registry of Denmark. (Copied from article).
    Matched MeSH terms: Twins
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