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Fulltext Past Fluoride Exposure From Ingested Toothpaste Extrapolated From Younger Siblings And Fluorosis Status

Tan, B.S., Razak, I.A., Foo, L.C.

Ann Dent, 2004;11(1):-.
MyJurnal

The aim of the study was to assess the association between past fluoride exposures from ingested toothpaste and current fluorosis manifestations in 10- 11 year old index subjects. Fluorosis was assessed with the Dean’s Index in 1343 10-11 year old index subjects. Two hundred index subjects who had younger 4-5 year old siblings were sub sampled and fluoride exposures from ingested toothpaste in their younger siblings (proxy subjects) were determined. The values for the fluoride ingested per brushing of the proxy subjects were utilised together with past frequency of toothbrushing of index subjects to extrapolate on the past exposure of index subjects. The mean extrapolated past fluoride exposure from ingestion of toothpaste was highly variable; 671.7 ug ± 739.3 ug (sem= 56.9). It was higher in the subjects with fluorosis (697.3 ug) than in those without fluorosis (646.89 ug) but differences were not of statistical significance. This approach of extrapolation has not been reported elsewhere and need to be validated. The implications of the present methodology to estimate past fluoride exposure is discussed.

Matched MeSH terms: Siblings
Human factors for a sustainable future

Thatcher A, Yeow PH

Appl Ergon, 2016 May 24.
PMID: 27234806 DOI: 10.1016/j.apergo.2016.05.007

Current human activities are seriously eroding the ability of natural and social systems to cope. Clearly we cannot continue along our current path without seriously damaging our own ability to survive as a species. This problem is usually framed as one of sustainability. As concerned professionals, citizens, and humans there is a strong collective will to address what we see as a failure to protect the natural and social environments that supports us. While acknowledging that we cannot do this alone, human factors and ergonomics needs to apply its relevant skills and knowledge to assist where it can in addressing the commonly identified problem areas. These problems include pollution, climate change, renewable energy, land transformation, and social unrest amongst numerous other emerging global problems. The issue of sustainability raises two fundamental questions for human factors and ergonomics: which system requires sustaining and what length of time is considered sustainable? In this paper we apply Wilson (2014) parent-sibling-child model to understanding what is required of an HFE sustainability response. This model is used to frame the papers that appear in this Special Issue.

Matched MeSH terms: Siblings
Fulltext X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother

Gill HK, Kumar HC, Cheng CK, Ming CC, Nallusamy R, Yusoff NM, et al.

Asian Pac J Allergy Immunol, 2013 Jun;31(2):167-72.
PMID: 23859418 DOI: 10.12932/AP0274.31.2.2013

BACKGROUND: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency (PID) caused by a dysfunctional respiratory burst enzyme NADPH-oxidase. The concurrence of Klinefelter’s Syndrome (KS) and CGD would be extremely rare.
OBJECTIVE: We describe the study of a family where the youngest male child had X-linked CGD (X-CGD) while his older brother was both an X-CGD carrier and a Klinefelter.
METHODS: Flow cytometry was used to study respiratory burst and gp91-phox expression, while genetic investigation was done by RT-PCR, PCR and X-chromosome short tandem repeat (X-STR) analysis.
RESULTS: The Dihydrorhodamine (DHR) assay showed the patient’s neutrophils failed to produce a respiratory burst, while both the mother and an older brother showed a bimodal response. gp91-phox expression was absent in the patient’s neutrophils, and bimodal in the mother’s and brother’s neutrophils. The patient’s cDNA showed a C>T change at nucleotide 676 of the CYBB gene. The same change was seen in the patient’s gDNA, while the brother and mother were heterozygous, with C and T, in this position. The c.676C>T is a nonsense mutation that leads to premature termination of the gp91-phox protein. The brother karyotyped as 47, XXY and X chromosome analysis showed that he had inherited both his mother’s X chromosomes.
CONCLUSIONS: This study showed that the patient had gp91-phox deficient CGD while his older brother was a CGD carrier and a Klinefelter, who had inherited both his mother’s X chromosomes. This is the first report of such a concurrence in an individual, and argues for family members to be included in PID studies.
Key words: Chronic granulomatous disease, CYBB, gp91-phox, Klinefelter’s syndrome NADPHoxidase

Matched MeSH terms: Siblings
Functional characterization of two variants in the 3'-untranslated region (UTR) of transcription factor 4 gene and their association with schizophrenia in sib-pairs from multiplex families

Mohamed ZI, Tee SF, Chow TJ, Loh SY, Yong HS, Bakar AKA, et al.

Asian J Psychiatr, 2019 Feb;40:76-81.
PMID: 30771755 DOI: 10.1016/j.ajp.2019.02.001

Transcription factor 4 (TCF4) gene plays an important role in nervous system development and it always associated with the risk of schizophrenia. Since miRNAs regulate targetgenes by binding to 3'UTRs of target mRNAs, the functional variants located in 3'UTR of TCF4 are highly suggested to affect the gene expressions in schizophrenia. To test the hypothesis regarding the effects of the variants located in 3'UTR of TCF4, we conducted an in silico analysis to identify the functional variants and their predicted functions. In this study, we sequenced the 3'UTR of TCF4 in 13 multiplex schizophrenia families and 14 control families. We found two functional variants carried by three unrelated patients. We determined that the C allele of rs1272363 and the TC insert of rs373174214 might suppress post- transcriptional expression. Secondly, we cloned the region that flanked these two variants into a dual luciferase reporter system and compared the luciferase activities between the pmirGLO-TCF4 (control), pmirGLO-TCF4-rs373174214 and pmirGLO-TCF4-rs1273263. Both pmirGLO-TCF4-rs373174214 and pmirGLO-TCF4-rs1273263 caused lower reporter gene activities, as compared to the control. However, only the C allele of rs1272363 reduced the luciferase activity significantly (p = 0.0231). Our results suggested that rs1273263 is a potential regulator of TCF4 expression, and might be associated with schizophrenia.

Matched MeSH terms: Siblings
Multisystem inflammatory syndrome in children (MIS-C) occurring in temporal proximity between siblings

Lim L, Lim SJ, Loy JS, Ng DC

BMJ Case Rep, 2021 Sep 16;14(9).
PMID: 34531241 DOI: 10.1136/bcr-2021-246066

We report a pair of siblings who developed multisystem inflammatory syndrome in children (MIS-C) in close temporal proximity after recent exposure to SARS-CoV-2. Both siblings presented with Kawasaki disease-like features and haemodynamic instability, with the onset of symptoms within 6 days of each other. Remarkably, one of the siblings was the elder of a pair of monozygotic twins. The younger monozygotic twin, however, did not develop MIS-C.

Matched MeSH terms: Siblings
Quality of life of Malaysian children with CHD

Ong LC, Teh CS, Darshinee J, Omar A, Ang HL

Cardiol Young, 2017 Sep;27(7):1306-1313.
PMID: 28260550 DOI: 10.1017/S1047951117000166

OBJECTIVES: The objectives of this study were to compare the quality-of-life scores of Malaysian children with CHD and their healthy siblings, to determine the level of agreement between proxy-reports and child self-reports, and to examine variables that have an impact on quality of life in those with CHD.
METHODS: Parental-proxy scores of the Pediatric Quality of Life Inventory 4.0 core scales were obtained for 179 children with CHD and 172 siblings. Intra-class coefficients were derived to determine the levels of proxy-child agreement in 66 children aged 8-18 years. Multiple regression analysis was used to determine factors that impacted Pediatric Quality of Life Inventory scores.
RESULTS: Proxy scores were lower in children with CHD than siblings for all scales except physical health. Maximum differences were noted in children aged 5-7 years, whereas there were no significant differences in the 2-4 and 13-18 years age groups. Good levels of proxy-child agreement were found in children aged 8-12 years for total, psychosocial health, social, and school functioning scales (correlation coefficients 0.7-0.8). In children aged 13-18 years, the level of agreement was poor to fair for emotional and social functioning. The need for future surgery and severity of symptoms were associated with lower scores.
CONCLUSION: Differences in proxy perception of quality of life appear to be age related. The level of proxy-child agreement was higher compared with other reported studies, with lower levels of agreement in teenagers. Facilitating access to surgery and optimising control of symptoms may improve quality of life in this group of children.

Matched MeSH terms: Siblings
Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family

Chan LG, Ting HS

Clin. Dysmorphol., 2005 Jan;14(1):1-5.
PMID: 15602085

We present two siblings from a consanguineous Malaysian family with multiple skeletal abnormalities, anterior segment anomalies of the eye and early lethality. These features are consistent with a syndrome first described by Al-Gazali and we provide further delineation of the syndrome.

Matched MeSH terms: Siblings
Fulltext Choroidal neovascularization secondary to Best's vitelliform macular dystrophy in two siblings of a Malay family

Alisa-Victoria K, Jin-Poi T, Shatriah I, Zunaina E, Ngah NF

Clin Ophthalmol, 2014;8:537-42.
PMID: 24648718 DOI: 10.2147/OPTH.S55623

Best's vitelliform macular dystrophy complicated with choroidal neovascularization is rare in children. We report three children from a Malay family of five siblings with Best's vitelliform macular dystrophy, in which two of them subsequently developed choroidal neovascularization. The possible pathogenesis of this rare condition is described and highlighted in this report.

Matched MeSH terms: Siblings
Fulltext Familial pattern of large vestibular aqueduct syndrome in a Chinese family

Hazmi M, Ab Aziz A, Asma A

EXCLI J, 2013;12:118-21.
PMID: 27034633

Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence of genetic predisposition. We described cases of LVAS in two siblings of a Chinese family. The elder sister first presented with reduced hearing since childhood and her brother has a similar complaint upon further questioning. Their hearing test showed bilateral sensorineural hearing loss (SNHL) and computed tomography (CT) of temporal bone showed enlarged vestibular aqueduct in both patients. We described an approach to diagnosis of LVAS and highlight the importance of hearing assessment in genetic link hearing loss.

Matched MeSH terms: Siblings
Fulltext Supplementary feeding increases nestling feather corticosterone early in the breeding season in house sparrows

Salleh Hudin N, De Neve L, Strubbe D, Fairhurst GD, Vangestel C, Peach WJ, et al.

Ecol Evol, 2017 08;7(16):6163-6171.
PMID: 28861222 DOI: 10.1002/ece3.3114

Several studies on birds have proposed that a lack of invertebrate prey in urbanized areas could be the main cause for generally lower levels of breeding success compared to rural habitats. Previous work on house sparrows Passer domesticus found that supplemental feeding in urbanized areas increased breeding success but did not contribute to population growth. Here, we hypothesize that supplementary feeding allows house sparrows to achieve higher breeding success but at the cost of lower nestling quality. As abundant food supplies may permit both high- and low-quality nestlings to survive, we also predict that within-brood variation in proxies of nestling quality would be larger for supplemental food broods than for unfed broods. As proxies of nestling quality, we considered feather corticosterone (CORT f), body condition (scaled mass index, SMI), and tarsus-based fluctuating asymmetry (FA). Our hypothesis was only partially supported as we did not find an overall effect of food supplementation on FA or SMI. Rather, food supplementation affected nestling phenotype only early in the breeding season in terms of elevated CORT f levels and a tendency for more variable within-brood CORT f and FA. Early food supplemented nests therefore seemed to include at least some nestlings that faced increased stressors during development, possibly due to harsher environmental (e.g., related to food and temperature) conditions early in the breeding season that would increase sibling competition, especially in larger broods. The fact that CORT f was positively, rather than inversely, related to nestling SMI further suggests that factors influencing CORT f and SMI are likely operating over different periods or, alternatively, that nestlings in good nutritional condition also invest in high-quality feathers.

Matched MeSH terms: Siblings
Changes in balance function with chronic antiepileptic drug therapy: A twin and sibling study

Shiek Ahmad B, Wark JD, Petty SJ, O'Brien TJ, Gorelik A, Sambrook PN, et al.

Epilepsia, 2015 Nov;56(11):1714-22.
PMID: 26513212 DOI: 10.1111/epi.13136

To investigate cross-sectional and longitudinal differences in static and dynamic standing balance measures and lower limb muscle strength in patients who are treated chronically with antiepileptic drugs (AEDs).

Matched MeSH terms: Siblings*
Impact of epilepsy on employment in Malaysia

Lim KS, Wo SW, Wong MH, Tan CT

Epilepsy Behav, 2013 Apr;27(1):130-4.
PMID: 23416283 DOI: 10.1016/j.yebeh.2012.12.034

Studies on the impact of epilepsy on employment have been extensively performed in European and some Asian countries but not in Southeast Asia such as Malaysia, a country with a robust economy, low unemployment rate, and minimal social security benefits for the unemployed. This study aims to determine the impact of epilepsy on employment in Malaysia.

Matched MeSH terms: Siblings
Differentiating sibling species of Zeugodacus caudatus (Insecta: Tephritidae) by complete mitochondrial genome

Yong HS, Song SL, Lim PE, Eamsobhana P, Suana IW

Genetica, 2016 Oct;144(5):513-521.
PMID: 27502829

Zeugodacus caudatus is a pest of pumpkin flowers. It has a Palearctic and Oriental distribution. We report here the complete mitochondrial genome of the Malaysian and Indonesian samples of Z. caudatus determined by next-generation sequencing of genomic DNA and determine their taxonomic status as sibling species and phylogeny with other taxa of the genus Zeugodacus. The whole mitogenome of both samples possessed 37 genes (13 protein-coding genes-PCGs, 2 rRNA and 22 tRNA genes) and a control region. The mitogenome of the Indonesian sample (15,885 bp) was longer than that of the Malaysian sample (15,866 bp). In both samples, TΨC-loop was absent in trnF and DHU-loop was absent in trnS1. Molecular phylogeny based on 13 PCGs was concordant with 15 mitochondrial genes (13 PCGs and 2 rRNA genes), with the two samples of Z. caudatus forming a sister group and the genus Zeugodacus was monophyletic. The Malaysian and Indonesian samples of Z. caudatus have a genetic distance of p = 7.8 % based on 13 PCGs and p = 7.0 % based on 15 mitochondrial genes, indicating status of sibling species. They are proposed to be accorded specific status as members of a species complex.

Matched MeSH terms: Siblings*
Fulltext Sibship assignment to the founders of a Bangladeshi Catla catla breeding population

Hamilton MG, Mekkawy W, Benzie JAH

Genet. Sel. Evol., 2019 Apr 29;51(1):17.
PMID: 31035934 DOI: 10.1186/s12711-019-0454-x

Catla catla (Hamilton) fertilised spawn was collected from the Halda, Jamuna and Padma rivers in Bangladesh from which approximately 900 individuals were retained as 'candidate founders' of a breeding population. These fish were fin-clipped and genotyped using the DArTseq platform to obtain, 3048 single nucleotide polymorphisms (SNPs) and 4726 silicoDArT markers. Using SNP data, individuals that shared no putative parents were identified using the program COLONY, i.e. 140, 47 and 23 from the Halda, Jamuna and Padma rivers, respectively. Allele frequencies from these individuals were considered as representative of those of the river populations, and genomic relationship matrices were generated. Then, half-sibling and full-sibling relationships between individuals were assigned manually based on the genomic relationship matrices. Many putative half-sibling and full-sibling relationships were found between individuals from the Halda and Jamuna rivers, which suggests that catla sampled from rivers as spawn are not necessarily representative of river populations. This has implications for the interpretation of past population genetics studies, the sampling strategies to be adopted in future studies and the management of broodstock sourced as river spawn in commercial hatcheries. Using data from individuals that shared no putative parents, overall multi-locus pairwise estimates of Wright's fixation index (FST) were low (≤ 0.013) and the optimum number of clusters using unsupervised K-means clustering was equal to 1, which indicates little genetic divergence among the SNPs included in our study within and among river populations.

Matched MeSH terms: Siblings
A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] with other α-thalassemias in Malay families

Alauddin H, Jaapar NA, Azma RZ, Ithnin A, Razak NF, Loh CK, et al.

Hemoglobin, 2014;38(4):277-81.
PMID: 24829075 DOI: 10.3109/03630269.2014.916720

Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a rare hemoglobin (Hb) variant due to a mutation at codon 59 of the α2- or α1-globin gene resulting in a glycine to aspartic acid substitution. Two siblings with a unique coinheritance of Hb Adana and Hb Constant Spring (Hb CS, α142, Term→Gln, TAA>CAA; HBA2: c.427 T>C) (α(codon 59)α/α(CS)α), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (α(codon 59)α/-α(3.7)). Although they all had α-thalassemia intermedia (α-TI), the former were clinically more severe than the latter. The first pair of siblings presented at a much younger age than the second pair and showed lower Hb levels and significant extramedullay hemopoiesis. Another case of a hydropic fetus as a result of Hb H/Hb Adana is also described. Their clinical phenotypes and hematological parameters are all presented for comparison.

Matched MeSH terms: Siblings
Fulltext Successful Pregnancy Outcome in Malaysian Woman with Rare p Phenotype and Anti-PP1P(k) Antibody

Mohd Azri MS, Kunasegaran K, Azrina A, Siti Nadiah AK

Indian J Hematol Blood Transfus, 2014 Sep;30(Suppl 1):405-8.
PMID: 25332632 DOI: 10.1007/s12288-014-0439-4

We report the first case of young woman with the p phenotype and anti-PP1P(k) antibody in the Malaysian population who was identified during a blood grouping and antibody screening procedure after her first miscarriage. Further family screening detected two other siblings who possessed the same rare phenotype and antibody. Because of difficulties in finding compatible units in the local population, the patient and her two siblings were advised to become regular blood donor. Their blood was frozen for future use. After she had two recurrent miscarriages, her third pregnancy was successfully managed using oral dydrogesterone, which was started from 10 weeks into the pregnancy. Her pregnancy was uneventful and she gave birth to a healthy term neonate.

Matched MeSH terms: Siblings
Fulltext Improvement in documentation of intake and output chart

Ling, W.W., Ling, L.P., Chin, Z.H., Wong, I.T., Wong, A.Y., Nasef, A., et al.

Int J Public Health Res, 2011;1(2):152-162.
MyJurnal

Intake and Output (I/O) records in hospitals were often found to be incomplete and illegible. The form used to record I/O is not user-friendly - i.e., they feature miniscule boxes, 'total' lines that do not correspond with shift changes and lack of instructions. Complaints often received from Specialists & Doctors regarding calculation errors or no totalling of I/O. Moreover, Nursing Sisters objective rounds often saw incompleteness of I/O chart. This study aims to identify the types of mistakes in recording the existing I/O chart. The second aim is to find out whether shift totalling of I/O chart helps in reducing mistakes. We try to determine whether the identified mistakes were repeated in the new I/O Chart. This study was conducted from October till December 2010 in 9 selected wards in Sibu Hospital. Data collection was divided into 3 phases. A pre-implementation audit using a checklist was carried out. The compliance rate of completeness of documentation of I/O Chart was 63%. A one month trial of new I/O chart was being done in the selected 9 wards. Post implementation audit showed a significant improvement of compliance rate (88%). Feedback from health care workers (N=110) showed that, 89% of doctors (n=17) and 60% of nurses (n=93) in the sample prefer to use the new format as more practical and relevant to the changing shift of nurses and doctors' ward round. It is suggested to implement the new format to increase compliance rate of documentation of I/O charting. Briefing should be given to nurses periodically and the new format should be introduced to nursing students in nursing colleges.

Matched MeSH terms: Siblings
A case of T-cell acute lymphoblastic leukemia after treatment of acute promyelocytic leukemia

Bee PC, Gan GG, Sangkar JV, Teh A, Goh KY

Int J Hematol, 2004 May;79(4):358-60.
PMID: 15218965

We diagnosed T-cell acute lymphoblastic leukemia (T-ALL) with multiple cytogenetic abnormalities in a 17-year-old girl a year after she had received a diagnosis of acute promyelocytic leukemia (APML). After the diagnosis of APML in June 2001, the patient was treated with idarubicin and all-trans-retinoic acid. In September 1999, her younger sister also received a diagnosis of APML and to date has remained well. T-ALL after remission of APML is very rare, and only 1 such case has been reported. Possible causes include therapy-related reasons, genetic susceptibility to leukemia, and environmental exposure.

Matched MeSH terms: Siblings
Adolescents as perpetrators of aggression within the family

Kuay HS, Lee S, Centifanti LC, Parnis AC, Mrozik JH, Tiffin PA

Int J Law Psychiatry, 2016 Jul-Aug;47:60-7.
PMID: 27016774 DOI: 10.1016/j.ijlp.2016.02.035

Although family violence perpetrated by juveniles has been acknowledged as a potentially serious form of violence for over 30years, scientific studies have been limited to examining the incidence and form of home violence. The present study examined the prevalence of family aggression as perpetrated by youths; we examined groups drawn from clinic-referred and forensic samples. Two audits of case files were conducted to systematically document aggression perpetrated by referred youths toward their family members. The purpose of the first audit was fourfold: i) to identify the incidence of the perpetration of family aggression among clinical and forensic samples; ii) to identify whether there were any reports of weapon use during aggressive episodes; iii) to identify the target of family aggression (parents or siblings); and iv) to identify the form of aggression perpetrated (verbal or physical). The second audit aimed to replicate the findings and to show that the results were not due to differences in multiple deprivation indices, clinical diagnosis of disruptive behavior disorders, and placement into alternative care. A sampling strategy was designed to audit the case notes of 25 recent forensic Child and Adolescent Mental Health Service (CAMHS) cases and 25 demographically similar clinic-referred CAMHS cases in the first audit; and 35 forensic cases and 35 demographically similar clinic-referred CAMHS cases in the second audit. Using ordinal chi-square, the forensic sample (audit 1=64%; audit 2=82.9%) had greater instances of family violence than the clinical sample (audit 1=32%; audit 2=28.6%). They were more likely to use a weapon (audit 1=69%; audit 2=65.5%) compared to the clinical sample (audit 1 and 2=0%). Examining only the aggressive groups, there was more perpetration of aggression toward parents (audit 1, forensic=92%, clinical=75%; audit 2, forensic=55.17%, clinical=40%) than toward siblings (audit 1, forensic=43%, clinical=50%; audit 2, forensic=27.58%, clinical=30%). Based on these findings, we would urge professionals who work within the child mental health, particularly the forensic area, to systematically collect reports of aggression perpetrated toward family members.

Study conducted in England

Matched MeSH terms: Siblings*
Fulltext Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum

Yuniati R, Sihombing NRB, Nauphar D, Tiawarman B, Kartikasari DS, Dewi M, et al.

Intractable Rare Dis Res, 2021 May;10(2):114-121.
PMID: 33996357 DOI: 10.5582/irdr.2020.03143

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by hypersensitivity of the skin to ultraviolet radiation and other carcinogenic agents. This ailment is characterized by increased photosensitivity, skin xerosis, early skin aging, actinic keratosis, erythematous lesions, and hyperpigmentation macules. In this serial case report, we presented four cases with XP from two families in Indonesia. Both families were referred from rural referral health centers, and each family has two affected siblings. They had freckle-like pigmentation on the face, trunk, and extremities, which progressed since childhood. One patient of family 2 died because of an infectious disease. Histopathological examination using cytokeratine (CK), CD10, and Ber-EP4 staining from available tissue biopsy of one affected case of family 1 identified basal cell carcinoma (BCC) on the cheek and melanoma on the right eye. Mutation analysis found ERCC2, c2047C>T and XPC, c1941T>A in the first and second families, respectively. We suppose that this is the first case report of XP in Indonesia that incorporates clinical examination, genetic analysis, and extensive histopathological examination, including immunohistochemistry staining, and a novel pathogenic variant of XPC was found in the second family.

Matched MeSH terms: Siblings

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