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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 Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family

Ch'ng GS, An SS, Bae SO, Bagyinszky E, Kim S

Neuropsychiatr Dis Treat, 2015;11:2315-22.
PMID: 26396515 DOI: 10.2147/NDT.S86334

Alzheimer's disease (AD) is the most common form of dementia, which can be categorized into two main forms: early onset AD and late onset AD. The genetic background of early onset AD is well understood, and three genes, the APP, PSEN1, and PSEN2 have been identified as causative genes. In the current study, we tested three siblings from Malaysia who were diagnosed with early onset dementia, as well as their available family members. The family history was positive as their deceased father was similarly affected. Patients were tested for mutations in APP, PSEN1, PSEN2, and PRNP. A novel variant, E280K, was discovered in exon 8 of PSEN1 in the three siblings. In silico analyses with SIFT, SNAP, and PolyPhen2 prediction tools and three-dimensional modeling were performed, and the results suggested that the mutation is probably a pathogenic variant. Two additional pathogenic mutations were previously been described for codon 280, E280A, and E280G, which could support the importance of the E280 residue in the PS1 protein contributing to the pathogenic nature of E280K. Additional ten family members were screened for the E280K mutation, and all of them were negative. Six of them presented with a variety of neuropsychiatric symptoms, including learning disabilities, epilepsy, and schizophrenia, while four family members were asymptomatic. A novel PRNP G127S mutation was found in a step-niece of the three siblings harboring the PSEN1 E280K mutation. In silico predictions for PRNP G127S mutation suggested that this might be possibly a damaging variant. Additional studies to characterize PRNP G127S would be necessary to further understand the effects of this mutation.

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
Fulltext Learning styles among year 1 semester 1nursing students in college of nursing Kubang Kerian, Kelantan

Rusnani Ab Latif, Fairani Yusof, Tan, Yok Mui, Nor Suraizai Ibrahim

The Malaysian Journal of Nursing, 2019;10(4):3-11.
MyJurnal

Introduction: Students learn in many ways. Some students are visual learners, while others are auditory or kinesthetic learners. The purpose of the study is to identify the learning style of the students and factors that influence their learning styles. Methods: This is a descriptive study with cross-sectional design. Convenient sampling was used. In this study, a total of 51 nursing students were involved. A set of questionnaires using VARK (Visual; Auditory; Read/Write; Kinesthetic) inventory was used. Descriptive statistics and Chi-square test were use. Results: The learning styles of the respondents were mostly kinesthetic learning style and auditory learning styles which is 14(27.5%) for both, ten respondent had combinations of various styles, seven respondents had read write learning style and six respondent had visual learning style which is 13.7% and 11.8% respectively. Chi-square test shows that there was significant difference between learning style and respondents' demographic factors of previous school and number of siblings, where p-value 0.05). Conclusion: In order to achieve the goal of student learning it is important to use a combination of teaching methods and to make the classroom environment as stimulating and interactive as possible

Matched MeSH terms: Siblings
Haematopoietic stem cell transplantation for inborn errors of immunity: 25-year experience from University of Malaya Medical Centre, Malaysia

Ariffin H, Ab Rahman S, Jawin V, Foo JC, Amram NF, Mahmood NM, et al.

J Paediatr Child Health, 2020 Mar;56(3):379-383.
PMID: 31479560 DOI: 10.1111/jpc.14621

AIM: Inborn errors of immunity (IEI) comprise a heterogeneous group of disorders of the immune system, most of which are curable by haematopoietic stem cell transplantation (HSCT). We present a 25-year audit of HSCT for IEI at a tertiary-level academic hospital in Malaysia.
METHODS: Review of medical records of all cases of IEI who underwent HSCT between January 1993 and December 2018 at our centre. Diagnoses, complications, HSCT protocols and outcome data were studied.
RESULTS: There were 20 patients (19 boys) with a median age at diagnosis of 11 months (range: 2 months to 12 years). Eleven of 19 (58%) had malnutrition at presentation. Donor sources were variable: 13 (65%) matched sibling donor (MSD), 4 (20%) human leukocyte antigen-haploidentical donor (HD) and 3 (15%) matched unrelated donor (MUD). Conditioning regimens were physician-dependent and adapted to each patient's clinical status. Grades III-IV acute graft-versus-host disease occurred in two of three cases who received MUD grafts, 50% in those who received HD, and 8% in the MSD group. Transplant-related mortality at day +100 was 5%. With a median follow-up of 7.5 years, 18 (90%) patients are alive and free of infections.
CONCLUSION: Outcome of HSCT for IEI in our centre is comparable with international reports. HSCT results using HD and MUD grafts are also good despite challenges from acute graft-versus-host disease, providing a feasible alternative for patients without matched donors.

Matched MeSH terms: Siblings
Fulltext A case of clinical vampirism in asia

Phang, C.K., Kayatri, S., Ang, J.K.

Malaysian Journal of Medicine and Health Sciences, 2013;9(1):87-89.
MyJurnal

Clinical vampirism in psychiatric practice is very rare and usually associated with schizophrenia, antisocial personality disorder or paraphilia. An Asian case of clinical vampirism is described. It is about a 24-year-old Malay female, paramedic student, who craved for blood since childhood. She injured her sister and herself so that she could access and drink blood. There was no associated psychosis or medical problems. The craving for blood may represent her underlying craving for parental love and attention.

Matched MeSH terms: Siblings
Clinical characteristics and outcome of children with febrile convulsions

Abdul Wahab Jantan, Zabidi Azhar Mohd Husin

Malaysian Journal of Child Health, 1997;9(1):73-82.
MyJurnal

Objective: The clinical characteristics and out-come offebrile convulsions in children admitted to the University Hospital in Kubang Kerian were analysed in this retrospective study.

Method: The medical records of 244 children aged between 6 months to 5 years who presented with their first convulsions between January 1989 to December 1990 were reviewed. Patients were followed till one year after their first febrile convulsions.

Results: The mean age of presentation was 18.26 (s.d. 11.83) months. One hundred and thirty (54.5%) were males. Complex febrile convulsions were noted in 47.5% and simple febrile convulsions in 52.5%. Seventy-two children (29.5%) were less than one year old at the time offirst febrile convulsions. A family history offebrile convulsions was significantly higher in the complexfebrile convulsions group. Ten children (4.1%) presented with prolonged first febrile convulsions. Data on 117 children on follow-up were available for analysis. Recurrence of febrile convulsions occurred in fifty children (46.7%) with mean interval of 6.53 (s.d. 5.25) months. There was significant difference in children who presented with febrile convulsions at age of less than one year old and having family history offebrile convulsions with regard to recurrence. Three children developed epilepsy at a mean age of 31.56 months. Identifiable causes of febrile convulsions were upper respiratory infection, presumed viral infection (fever with rashes) and acute gastro-enteritis. Laboratory investiga-tions that were done were not helpful.

Conclusions: Children with a family history of febrile convulsions were more likely to develop complex febrile convulsions. Routine investi-gations were rarely helpful. The recurrence rate is significantly influenced by the age of presentation and family history of febrile convulsions in siblings or either parent. The types offebrile convulsions did not significantly influence the recurrent rate.

Matched MeSH terms: Siblings
The search for a matched bone marrow donor in the Malaysian population

Chan, L.L., Law, C.W., Hunn, P.S., Yew, C.B., Lim, P.P.L., Teo, L.T., et al.

Malaysian Journal of Child Health, 1997;9(2):182-188.
MyJurnal

In Malaysia, an estimated 50 children per annum suffering from a variety of haematological and inherited disorders would benefit from bone marrow or stem cell trans-plantation. By mendelian inheritance 25% of these children would be able to find a sibling who is a matched histocompatible donor. For the remaining 75% to have a chance at survival, search from another source would have to be made. This could mean a mismatched non-sibling related donor or a matched unrelated donor. We studied the chance of a Malaysian patient finding a matched sibling donor and a matched unrelated donor. Human Leucocyte Antigen (HLA) data from patients and their siblings were analysed. The HLA data were matched against the largest Asian bone marrow donor registry in Taiwan. 95% of the 138,744 donors in this registry come from Taiwanese Hokkien ancestry.

Matched MeSH terms: Siblings
Fulltext Stress and coping strategies among medical students in National University of Malaysia, Malaysia University of Sabah and Universiti Kuala Lumpur Royal College of Medicine Perak

Johari, A.B., Noor Hassim

Malaysian Journal of Community Health, 2009;15(2):106-115.
MyJurnal

Introduction : Stress is part of our life. It can happen anywhere including in medical school. Medical school is perceived as being stressful because their difficulties in education, longest period of study and dealing with the patients. Stress can be perceive as negative or positive. Coping strategies are the method that we can use to prevent stress when it comes to us. The aim of this study was to determine the prevalence of stress and coping strategies among of medical students in National University of Malaysia, Malaysia University of Sabah and Universiti Kuala Lumpur Royal College of Medicine Perak.
Methods : This study involved 450 medical students through stratified sampling in which 150 medical students from each of the three universities. This study was conducted through self administered questionnaires. The questionnaires included were socio demographic factor, Personal Stress Inventory (using Stress Symptoms Scale with 52 items), BRIEF COPE (Coping Orientation for Problems Experienced with 28 items). The determination of cut off point for stress symptoms score was using Receiver Operating Characteristic (ROC) curve.
Results : Response rate was 90.8%. The prevalence of stress among medical students were 44.1%. The contributory factors to the stress were financial problems, stress of up coming examination period, relationship problems with parents, peers, siblings and lecturers. Coping mechanisms which had significant association with stress includes self distraction, venting of emotion, denial, behavioral disengagement, humor and self blaming. Multiple linear regression analysis revealed a significant association (p

Matched MeSH terms: Siblings
Fulltext An evaluation of health centers and hospital efficiency in Kampala capital city authority Uganda; using Pabon Lasso technique

Nabukeera, M., Boerhannoeddin, A., Raja Noriza, R.A.

JUMMEC, 2015;18(1):1-6.
MyJurnal

The Pabon Lasso Model is one of the most important and suitable techniques applied in evaluating the performance of hospitals. The visual representation standardizes the comparative accomplishments of hospitals which information is used by planners in effort to improve productivity of the health care system by use of three pointers namely: (i) Average Length of Stay (ALS); (ii) Bed Occupancy Rate (BOR); (iii) Bed Turnover (BTO). The purpose of this study is to evaluate performance of wards in health centers affiliated to Kampala Capital City Authority (KCCA) and Ministry of Health (MOH) during the financial year 2012-2013 constructed on Pabon Lasso Model. Data for the nine health centers and two referral hospitals was taken by the nursing sisters who were in charge. To ensure accuracy, a weekly standard report was submitted to head office and the data included: a list of wards, number of beds, admissions, deaths, discharges and inpatient days. For all government health centers and hospitals, overall, the average indicators ALS=3.63 days, BTO= 74.0 times per year and BOR=49.3% were obtained. Based on the Pabon Lasso graph, two wards are in Zone 3, two wards in Zone 4, one ward in Zone 2 and five wards in Zone 1. The performance of health centers and hospitals in Kampala were somehow poor. This represented unacceptable levels of technical deficiency.

Matched MeSH terms: Siblings
Sleep problems among children with neurological disorders

Khoo, T.B., Muhammad Ismail, H.I., Abdul Manaf, A.M.

Malaysian Journal of Paediatrics and Child Health, 2000;12(1):22-28.
MyJurnal

A study was conducted to evaluate the extent of sleep problems among children aged between 6 to 15 years old who were followed up at Penang Hospital Paediatric Clinic for various neurological disorders and compared to those with other paediatric illnesses and their healthy siblings. A parental questionnaire was used to assess sleep problems in 48 children with neurological disorders and compared to 46 of their healthy siblings, 59 children with non-neurological paediatric illnesses and 67 of their healthy siblings. Sleep problems were clustered into five subscales: bedtime difficulties, parental involvement at time of sleep, sleep fragmentation, parasomnias and daytime drowsiness. Children with neurological disorders had significantly more sleep problems than did their siblings, those with non-neurological paediatric illnesses and their healthy siblings (p < 0.001). This was particularly so in areas of bedtime difficulties (p>0.001), the amount of parental involvement (p

Study site: Penang Hospital Paediatric Clinic

Matched MeSH terms: Siblings
Consent for lumbar puncture -factors that influence the decision

Malik, A.S.

Malaysian Journal of Paediatrics and Child Health, 2000;12(1):35-41.
MyJurnal

Lumbar puncture (LP) is an important procedure both for diagnostic and therapeutic purposes. In Kelantan, Malaysia, on many occasions consent for this procedure is not granted by patients or guardians. The aim of this study was to find out the factors that influence the decision to grant or refuse the consent for LP. This was a cross-sectional study in which 86 parents (who agreed or refused to give consent for LP on their child) were interviewed by using a standard questionnaire. A scoring system was used to assess their knowledge about the purpose and technique of the procedure. Consent for LP was granted in 23 and refused in 27 children. The refusal rate was significantly higher when family members other than parents made the decision. The factors which did not play a statistically significant role in decision-making included: age of the child and parents; gender of the patient; number of children in the family; patient's birth order among the siblings; place of residence; monthly income of the family; parents' level of education; and number of days after admission when LP was requested. The factors that positively influenced the decision to give consent included knowledge about the purpose of LP and underlying disease. In order to receive positive consent for LP it is concluded that the parents/guardians and other family members who may influence the decision-making should be explained the role of LP in (1) making diagnosis and (2) choosing right antibiotics for treatment. They should also be informed about the side-effects of antibiotics, which may be used unnecessarily in unconfirmed cases of central nervous system infections.

Matched MeSH terms: Siblings
Fulltext Childhood brain injury: a review

Chee, Piau Wong, Ee, Lin Tay

Neurology Asia, 2015;20(2):105-115.
MyJurnal

Childhood brain injury is an important and complicated public health issue worldwide. Extensive work has been done in this field. This review highlights issues that are frequently misinterpreted or overlooked in the management of childhood brain injury. The incidence of traumatic brain injury is higher than non-traumatic brain injury. However it is frequently over-reported due to various confounding factors. In ascertaining the severity of injury, assessment of brainstem functions is important and should be included in routine clinical assessment. Most rehabilitative efforts are usually aimed at improving the physical outcome. However, non-physical sequelae are also common and may be more disabling with significant impact on the learning and functioning of the child. These areas, which include depression, cognitive functioning and health-related quality of life of children, should not be overlooked in the management of childhood brain injury. In addition to caregiver’s stress, family dynamic and siblings’ well-being also play a crucial role in the recovery process of the child. By highlighting the frequently missed issues in the management of childhood brain injury, it is hoped that clinicians and professionals could pay more attention to these issues and provide a comprehensive medical care for the patients and their families.

Matched MeSH terms: Siblings
Fulltext A tale of two boys: case report on nonconsanguineous siblings with cerebral palsy

Leelavathi, M., Lim, J.L., Ahmad, S.

Medicine & Health, 2014;9(1):74-79.
MyJurnal

Cerebral palsy is a common cause of childhood disability. It has a great impact on parents and caregivers, especially when it reoccurs in the same family. Although familial cerebral palsy is relatively uncommon, cases have been reported among children from consanguineous, non-consanguineous marriages and multiple pregnancies suggesting a possible complex genetic mode of inheritance. Physicians need to be aware of the possibility of familial cerebral palsy for early detection and counseling. We describe a rare case of two male siblings from a non-consanguineous marriage affected by cerebral palsy.

Matched MeSH terms: Siblings
Altered body composition, sarcopenia, frailty, and their clinico-biological correlates, in Parkinson's disease

Tan AH, Hew YC, Lim SY, Ramli NM, Kamaruzzaman SB, Tan MP, et al.

Parkinsonism Relat Disord, 2018 11;56:58-64.
PMID: 29914840 DOI: 10.1016/j.parkreldis.2018.06.020

INTRODUCTION: Low body weight in Parkinson's disease (PD) is poorly understood despite the associated risks of malnutrition, fractures, and death. Sarcopenia (loss of muscle bulk and strength) and frailty are geriatric syndromes that are likewise associated with adverse health outcomes, yet have received scant attention in PD. We studied body composition, sarcopenia, frailty, and their clinico-biological correlates in PD.
METHODS: 93 patients and 78 spousal/sibling controls underwent comprehensive assessment of diet, clinical status, muscle strength/performance, frailty, body composition (using dual-energy X-ray absorptiometry), and serum levels of neurogastrointestinal hormones and inflammatory markers.
RESULTS: PD patients were older than controls (66.0 ± 8.5 vs. 62.4 ± 8.4years, P = 0.003). Mean body mass index (24.0 ± 0.4 vs. 25.6 ± 0.5kg/m2, Padjusted = 0.016), fat mass index (7.4 ± 0.3 vs. 9.0 ± 0.3kg/m2, Padjusted<0.001), and whole-body fat percentage (30.7 ± 0.8 vs. 35.7 ± 0.9%, Padjusted<0.001) were lower in patients, even after controlling for age and gender. There were no between-group differences in skeletal muscle mass index and whole-body bone mineral density. Body composition parameters did not correlate with disease duration or motor severity. Reduced whole-body fat percentage was associated with higher risk of motor response complications as well as higher levels of insulin-growth factor-1 and inflammatory markers. PD patients had a higher prevalence of sarcopenia (17.2% vs. 10.3%, Padjusted = 0.340) and frailty (69.4% vs. 24.2%, Padjusted = 0.010). Older age and worse PD motor severity were predictors of frailty in PD.
CONCLUSIONS: We found reduced body fat with relatively preserved skeletal muscle mass, and a high prevalence of frailty, in PD. Further studies are needed to understand the patho-mechanisms underlying these alterations.

Matched MeSH terms: Siblings
Fulltext Familial antithrombin III deficiency in a Malay patient with massive thrombosis

Wan Ab Rahman WS, Abdullah WZ, Hassan MN, Hussin A, Zulkafli Z, Haron J

Malays J Pathol, 2017 Aug;39(2):197-200.
PMID: 28866705 MyJurnal

Patients with low antithrombin III (AT III) has increased risk for arteriovenous thromboembolic (TE) disease. We report a 28-year-old Malay lady who presented with spontaneous right calf pain and swelling of one week duration. She was on oral contraceptive pills and had a history of travelling for a long distance prior to the presentation. Her brother who was diagnosed with AT III deficiency had arterial thrombosis at a young age. She was diagnosed as having right popliteal vein thrombosis by ultrasound and treated with subcutaneous fondaparinux. While on treatment, she developed massive bilateral pulmonary embolism (PE). Thrombophilia study showed reduced AT III activity (38μl/dl) and normal results for protein C, protein S, activated protein C resistance and lupus anticoagulant assays. This patient has heterozygous AT III deficiency added with significant acquired factors responsible for the TE events. Those with AT III deficiency may have resistance to heparin therapy and require higher doses of heparin.

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*
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*
Risk of Colorectal Neoplasia in Individuals With Self-Reported Family History: A Prospective Colonoscopy Study from 16 Asia-Pacific Regions

Wong MC, Ching JY, Chiu HM, Wu KC, Rerknimitr R, Li J, et al.

Am J Gastroenterol, 2016 11;111(11):1621-1629.
PMID: 26977757 DOI: 10.1038/ajg.2016.52

OBJECTIVES: We tested the hypothesis that the risk of colorectal cancer (CRC), advanced colorectal neoplasia (ACN), and colorectal adenoma among screening participants with different first-degree relatives (FDRs) affected by CRC was similar.
METHODS: A multi-center, prospective colonoscopy study involving 16 Asia-Pacific regions was performed from 2008 to 2015. Consecutive self-referred CRC screening participants aged 40-70 years were recruited, and each subject received one direct optical colonoscopy. The prevalence of CRC, ACN, and colorectal adenoma was compared among subjects with different FDRs affected using Pearson's χ2 tests. Binary logistic regression analyses were performed to evaluate the risk of these lesions, controlling for recognized risk factors including age, gender, smoking habits, alcohol drinking, body mass index, and the presence of diabetes mellitus.
RESULTS: Among 11,797 asymptomatic subjects, the prevalence of CRC was 0.6% (none: 0.6%; siblings: 1.1%; mother: 0.5%; father: 1.2%; ≥2 members: 3.1%, P<0.001), that of ACN was 6.5% (none: 6.1%; siblings: 8.3%; mother: 7.7%; father: 8.7%; ≥2 members: 9.3%, P<0.001), and that of colorectal adenoma was 29.3% (none: 28.6%; siblings: 33.5%; mother: 31.8%; father: 31.1%; ≥2 members: 38.1%, P<0.001). In multivariate regression analyses, subjects with at least one FDR affected were significantly more likely to have CRC (adjusted odds ratio (AOR)=2.02-7.89), ACN (AOR=1.55-2.06), and colorectal adenoma (AOR=1.31-1.92) than those without a family history. The risk of CRC (AOR=0.90, 95% confidence interval (CI) 0.34-2.35, P=0.830), ACN (AOR=1.07, 95% CI 0.75-1.52, P=0.714), and colorectal adenoma (AOR=0.96, 95% CI 0.78-1.19, P=0.718) in subjects with either parent affected was similar to that of subjects with their siblings affected.
CONCLUSIONS: The risk of colorectal neoplasia was similar among subjects with different FDRs affected. These findings do not support the need to discriminate proband identity in screening participants with affected FDRs when their risks of colorectal neoplasia were estimated.

Matched MeSH terms: Siblings*
Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall

Alauddin H, Mohamad Nasir S, Ahadon M, Raja Sabudin RZ, Ithnin A, Hussin NH, et al.

Malays J Pathol, 2015 Dec;37(3):287-92.
PMID: 26712677

Haemoglobin (Hb) Lepore is a variant Hb consisting of two α-globin and two δβ-globin chains. In a heterozygote, it is associated with clinical findings of thalassaemia minor, but interactions with other haemoglobinopathies can lead to various clinical phenotypes and pose diagnostic challenges. We reported a pair of siblings from a Malay family, who presented with pallor and hepatosplenomegaly at the ages of 21 months and 14 months old. The red cell indices and peripheral blood smears of both patients showed features of thalassaemia intermedia. Other laboratory investigations of the patients showed conflicting results. However, laboratory investigation results of the parents had led to a presumptive diagnosis of compound heterozygote Hb Lepore/β-thalassaemia and co-inheritance α+-thalassaemia (-α3.7). Hb Lepore has rarely been detected in Southeast Asian countries, particularly in Malaysia. These two cases highlight the importance of family studies for accurate diagnosis, hence appropriate clinical management and genetic counseling.

Matched MeSH terms: Siblings

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