Displaying publications 101 - 120 of 3448 in total

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  1. Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, et al.
    J Hum Genet, 2020 Sep;65(9):751-757.
    PMID: 32405030 DOI: 10.1038/s10038-020-0765-3
    Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices (MIM:616647). ITPase plays an important role in purine metabolism. In this study, we identified two novel homozygous ITPA variants, c.264-1 G > A and c.489-1 G > A, in two unrelated consanguineous families. The probands had epilepsy, microcephaly with characteristic magnetic resonance imaging findings (T2 hyperintensity signals in the pyramidal tracts of the internal capsule, delayed myelination, and thin corpus callosum), hypotonia, and developmental delay; both died in early infancy. Our report expands the knowledge of clinical consequences of biallelic ITPA variants.
    Matched MeSH terms: Infant
  2. Khoo AS, Balraj P, Rachedi A, Chin CN, Volpi L
    Hum Mutat, 1999 Nov;14(5):448.
    PMID: 10533073
    Matched MeSH terms: Infant, Newborn
  3. Mizuguchi T, Nakashima M, Moey LH, Ch'ng GS, Khoo TB, Mitsuhashi S, et al.
    J Hum Genet, 2019 Apr;64(4):347-350.
    PMID: 30626896 DOI: 10.1038/s10038-018-0556-2
    We report the second case of early infantile epileptic encephalopathy (EIEE) arising from a homozygous truncating variant of NECAP1. The boy developed infantile-onset tonic-clonic and tonic seizures, then spasms in clusters. His electroencephalogram (EEG) showed a burst suppression pattern, leading to the diagnosis of Ohtahara syndrome. Whole-exome sequencing revealed the canonical splice-site variant (c.301 + 1 G > A) in NECAP1. In rodents, Necap1 protein is enriched in neuronal clathrin-coated vesicles and modulates synaptic vesicle recycling. cDNA analysis confirmed abnormal splicing that produced early truncating mRNA. There has been only one previous report of a mutation in NECAP1 in a family with EIEE; this was a nonsense mutation (p.R48*) that was cited as EIEE21. Decreased mRNA levels and the loss of the WXXF motif in both the families suggests that loss of NECAP1 function is a common pathomechanism for EIEE21. This study provided additional support that synaptic vesicle recycling plays a key role in epileptogenesis.
    Matched MeSH terms: Infant; Spasms, Infantile/genetics*; Spasms, Infantile/physiopathology
  4. Hautvast J
    Br J Nutr, 2013 Sep;110 Suppl 3:S1.
    PMID: 24016761 DOI: 10.1017/S0007114513002122
    Matched MeSH terms: Infant
  5. Yap KL, Yasmin AM, Wong YH, Ooi YE, Tan SC, Jegathesan M, et al.
    Med J Malaysia, 1992 Dec;47(4):303-8.
    PMID: 1303484
    A 1 year longitudinal study of 156 Malaysian children from urban and suburban areas in the Klang Valley revealed that the incidence rate of diarrhoea was 23.6 per 100 person-year with abnormal faeces reported on 0.26% of the total days of observation. Diarrhoea cases were detected in children from all socioeconomic classes. Rotavirus was isolated from 12% of the diarrheic children and asymptomatic rotavirus infection occurred in 3.2% of the children. All rotaviruses isolated were group A rotaviruses with long electrophoretypic pattern.
    Matched MeSH terms: Infant
  6. Yap LF, Ramachandran CP, Balasingam E
    Med J Malaya, 1968 Dec;23(2):118-22.
    PMID: 4240821
    Matched MeSH terms: Infant; Infant, Newborn
  7. Holford N, O'Hanlon CJ, Allegaert K, Anderson B, Falcão A, Simon N, et al.
    Br J Clin Pharmacol, 2024 Apr;90(4):1066-1080.
    PMID: 38031322 DOI: 10.1111/bcp.15978
    AIMS: We propose using glomerular filtration rate (GFR) as the physiological basis for distinguishing components of renal clearance.

    METHODS: Gentamicin, amikacin and vancomycin are thought to be predominantly excreted by the kidneys. A mixed-effects joint model of the pharmacokinetics of these drugs was developed, with a wide dispersion of weight, age and serum creatinine. A dataset created from 18 sources resulted in 27,338 drug concentrations from 9,901 patients. Body size and composition, maturation and renal function were used to describe differences in drug clearance and volume of distribution.

    RESULTS: This study demonstrates that GFR is a predictor of two distinct components of renal elimination clearance: (1) GFR clearance associated with normal GFR and (2) non-GFR clearance not associated with normal GFR. All three drugs had GFR clearance estimated as a drug-specific percentage of normal GFR (gentamicin 39%, amikacin 90% and vancomycin 57%). The total clearance (sum of GFR and non-GFR clearance), standardized to 70 kg total body mass, 176 cm, male, renal function 1, was 5.58 L/h (95% confidence interval [CI] 5.50-5.69) (gentamicin), 7.77 L/h (95% CI 7.26-8.19) (amikacin) and 4.70 L/h (95% CI 4.61-4.80) (vancomycin).

    CONCLUSIONS: GFR provides a physiological basis for renal drug elimination. It has been used to distinguish two elimination components. This physiological approach has been applied to describe clearance and volume of distribution from premature neonates to elderly adults with a wide dispersion of size, body composition and renal function. Dose individualization has been implemented using target concentration intervention.

    Matched MeSH terms: Infant, Newborn
  8. Mukari SZ, Tan KY, Abdullah A
    Int J Pediatr Otorhinolaryngol, 2006 May;70(5):843-51.
    PMID: 16246430
    This paper reports the performance of a newly implemented hospital-based universal newborn hearing screening programme and the challenges to the effective implementation.
    Matched MeSH terms: Infant; Infant, Newborn
  9. Wong SSM, Wong KPL, Angus MIL, Chen Y, Choo CSC, Nah SA
    Pediatr Surg Int, 2020 Feb;36(2):227-233.
    PMID: 31654110 DOI: 10.1007/s00383-019-04592-0
    PURPOSE: Little is known of how children seek health information. This study evaluates online health information (OHI) seeking behaviours in adolescents undergoing major elective surgical procedures and compares responses within parent-child dyads.

    METHODS: With institutional approval, we prospectively surveyed parents of children admitted to our institution for major elective operations between November 2017 and November 2018, using convenience sampling. Patients aged 12 years and above were also invited. Each respondent completed an anonymized modification of a previously published survey on Internet usage. Chi squared tests were used for categorical data, with significance at P value 

    Matched MeSH terms: Infant
  10. Misra S, Khor GL, Mitchell P, Haque S, Benton D
    BMC Pediatr, 2015;15:79.
    PMID: 26174581 DOI: 10.1186/s12887-015-0393-9
    BACKGROUND: Sleep is important for children as it directly impacts their mental and physical development. Sleep is not only influenced by the timing but also the macronutrient (carbohydrate and protein) content of meals. Glycaemic index (GI) and glycaemic load (GL) describe the quality of carbohydrates in a food and the burden of these foods on the body's blood glucose response. Diets with a high GI/GL may increase the risk of developing obesity and type 2 diabetes mellitus in adulthood. The present study is piloted to evaluate the short-term impact of milk products with differing glycaemic properties on the sleep patterns of toddlers.
    METHODS: Toddlers were recruited from various day care centres. Informed consent was obtained from both the mothers and the centres. A double-blind randomised controlled trial with a between-subjects design was adopted. The toddlers were randomised to either one of two types of milk with a differing GI ("Low" = 23 and "High = 65") for a period of 3.5 days. There were no other dietary restrictions imposed except that the enrolled child did not consume any other milk during the study period. The sleep patterns were recorded using a Phillips Actiwatch-2, which was worn on the wrist for 24 h over 4 days. The parameters used to measure the sleep pattern were sleep-onset latency (SOL), total sleep time (TST), wake after sleep onset (WASO) and sleep efficiency (SE).
    RESULTS: A total of 56 toddlers completed the study. The toddlers had a mean age of 19.9 +/- 4.3 months. There were no significant differences (p > 0.05) between the two GI groups for SOL, TST, WASO and SE at the end of the feeding period.
    CONCLUSIONS: Sleep patterns of toddlers on low-GI milk did not differ from those with high-GI milk consumed over a short period. Future studies should consider the glycaemic effects of other foods, along with milk with differing GI, consumed for a longer feeding duration.
    TRIAL REGISTRATION: ClinicalTrial.gov NCT01589003.
    Matched MeSH terms: Infant
  11. Warrener L, Slibinskas R, Chua KB, Nigatu W, Brown KE, Sasnauskas K, et al.
    Bull World Health Organ, 2011 Sep 01;89(9):675-82.
    PMID: 21897488 DOI: 10.2471/BLT.11.088427
    OBJECTIVE: To evaluate the performance of a newly developed point-of-care test (POCT) for the detection of measles-specific IgM antibodies in serum and oral fluid specimens and to assess if measles virus nucleic acid could be recovered from used POCT strips.

    METHODS: The POCT was used to test 170 serum specimens collected through measles surveillance or vaccination programmes in Ethiopia, Malaysia and the Russian Federation: 69 were positive for measles immunoglobulin M (IgM) antibodies, 74 were positive for rubella IgM antibodies and 7 were positive for both. Also tested were 282 oral fluid specimens from the measles, mumps and rubella (MMR) surveillance programme of the United Kingdom of Great Britain and Northern Ireland. The Microimmune measles IgM capture enzyme immunoassay was the gold standard for comparison. A panel of 24 oral fluids was used to investigate if measles virus haemagglutinin (H) and nucleocapsid (N) genes could be amplified by polymerase chain reaction directly from used POCT strips.

    FINDINGS: With serum POCT showed a sensitivity and specificity of 90.8% (69/76) and 93.6% (88/94), respectively; with oral fluids, sensitivity and specificity were 90.0% (63/70) and 96.2% (200/208), respectively. Both H and N genes were reliably detected in POCT strips and the N genes could be sequenced for genotyping. Measles virus genes could be recovered from POCT strips after storage for 5 weeks at 20-25 °C.

    CONCLUSION: The POCT has the sensitivity and specificity required of a field-based test for measles diagnosis. However, its role in global measles control programmes requires further evaluation.

    Matched MeSH terms: Infant
  12. Thong MK, Ho JJ, Khatijah NN
    Ann Hum Biol, 2005 Mar-Apr;32(2):180-7.
    PMID: 16096215 DOI: 10.1080/03014460500075332
    Birth defects are one of the leading causes of paediatric disability and mortality in developed and developing countries. Data on birth defects from population-based studies originating from developing countries are lacking. One of the objectives of this study was to determine the epidemiology of major birth defects in births during the perinatal period in Kinta district, Perak, Malaysia over a 14-month period, using a population-based birth defect register. There were 253 babies with major birth defects in 17,720 births, giving an incidence of 14.3/1000 births, a birth prevalence of 1 in 70. There were 80 babies with multiple birth defects and 173 with isolated birth defects. The exact syndromic diagnosis of the babies with multiple birth defects could not be identified in 18 (22.5%) babies. The main organ systems involved in the isolated birth defects were cardiovascular (13.8%), cleft lip and palate (11.9%), clubfeet (9.1%), central nervous system (CNS) (including neural tube defects) (7.9%), musculoskeletal (5.5%) and gastrointestinal systems (4.7%), and hydrops fetalis (4.3%). The babies with major birth defects were associated with lower birth weights, premature deliveries, higher Caesarean section rates, prolonged hospitalization and increased specialist care. Among the cohort of babies with major birth defects, the mortality rate was 25.2% during the perinatal period. Mothers with affected babies were associated with advanced maternal age, birth defects themselves or their relatives but not in their other offspring, and significantly higher rates of previous abortions. The consanguinity rate of 2.4% was twice that of the control population. It is concluded that a birth defects register is needed to monitor these developments and future interventional trials are needed to reduce birth defects in Malaysia.
    Matched MeSH terms: Infant Mortality; Infant, Low Birth Weight; Infant, Newborn; Infant, Premature
  13. Trott JA, Mohan N
    Br J Plast Surg, 1993 Apr;46(3):215-22.
    PMID: 8490700
    This paper is a preliminary report on a strategy to perform open tip rhinoplasty at the time of lip repair in bilateral cleft lip and palate deformity. This method was devised to suit unique socio-economic circumstances in the Malaysian centre of Alor Setar. Of 8 cases having surgery in 1991, 7 returned for follow-up with results being documented photographically. It is concluded that this aggressive approach is justified in severe bilateral cleft lip and palate deformity because of the cost effectiveness of limiting the number of interventions. Furthermore, it provides optimally orientated nasal tip anatomy and reduces the social stigma of cleft lip nose appearance from the earliest possible time in the child's development.
    Matched MeSH terms: Infant
  14. Trott JA, Mohan N
    Br J Plast Surg, 1993 Jul;46(5):363-70.
    PMID: 8369872
    A method of open-tip rhinoplasty using nostril and columella rim incisions at the time of unilateral cleft lip repair is described. This preliminary report details experience gained using this technique in the Malaysian centre of Alor Setar following its introduction in September, 1991.
    Matched MeSH terms: Infant
  15. Osman O, Fong MY, Devi S
    Jpn J Infect Dis, 2007 Jul;60(4):205-8.
    PMID: 17642533
    The purpose of this study was to examine the extent of dengue infection in Brunei and to determine the predominant serotype circulating in the country. The study generated useful epidemiological data on dengue infection in Brunei. A total of 271 samples from patients suspected of having dengue infections were selected and analyzed. All patients were seen in clinics and hospitals in Brunei. The samples were collected from April 2005 to April 2006 and transported to the WHO Collaborating Centre for Arbovirus Reference and Research, University of Malaya, Malaysia. The following tests were used to achieve the objectives: in-house IgM-capture enzyme-linked immunosorbent assay, virus isolation in mosquito albopictus cell line (C6/36), and viral RNA detection and serotyping by reverse transcriptase-polymerase chain reaction (RT-PCR). The results show that 45 people were positive for dengue-specific IgM (27 males and 18 females), while RT-PCR detected dengue viral RNA in 12 patients, 3 identified as DEN-1 and 9 as DEN-2. Dengue virus was isolated from 6 patients using the C6/36 cell line; 3 were DEN-2 isolates and 3 were DEN-1 isolates. These data show that dengue virus is circulating in Brunei and the predominant infecting serotype for that period was DEN-2 followed by DEN-1. This study is the first to report the detection and isolation of dengue virus from Brunei using RT-PCR and culture in the C6/36 albopictus mosquito cell line.
    Matched MeSH terms: Infant; Infant, Newborn
  16. Norhayati M, Azlin M, Al-Mekhlafi MH, Anisah N, Nor Aini U, Fatmah MS, et al.
    Trans R Soc Trop Med Hyg, 2008 Dec;102(12):1274-8.
    PMID: 18602128 DOI: 10.1016/j.trstmh.2008.05.019
    An observational study was carried out to establish the existence of intestinal microsporidiosis among patients with and without gastrointestinal symptoms in Hospital Universiti Kebangsaan Malaysia, Malaysia. A total of 893 faecal specimens from hospitalized patients were examined for microsporidia using a modification of the usual Gram-chromotrope stain technique. One hundred and sixteen (13.0%) patients were positive for microsporidia: 84 (72.4%), 27 (23.3%) and 5 (4.3%) were low, moderate and high excreters of microsporidia spores, respectively. Of the 91 patients with available medical records, microsporidiosis was commonly observed in children aged 0-6 years (26.4%) and adults aged >or=31 years (57.2%). About one-third of this infection was observed in immunocompetent individuals. Among the immunosuppressive group, microsporidia were observed to be more prevalent in patients with haematological malignancy or a combination of malignancy and diabetes mellitus. About 74% of the patients who had microsporidia in their faeces had gastrointestinal symptoms, which could be related to infections or induced by immunosuppressive therapy. The role of microsporidia in causing gastrointestinal symptoms in this population is as yet unclear.
    Matched MeSH terms: Infant
  17. Kasmini K, Kyaw O, Krishnaswamy S, Ramli H, Hassan S
    Acta Psychiatr Scand, 1993 Apr;87(4):253-7.
    PMID: 8488745
    This is the first epidemiological survey of mental disorders among children in a Malaysian village. The WHO Research Questionnaire for Children (RQC) was used for initial screening followed by a semistructured interview, the Follow-up Interview for Children (FIC) at its second stage. Diagnosis was obtained by using Rutter's multi-axial classification. The prevalence rates obtained for the diagnostic categories were described in 3 age groups, in accordance with the age of attending school in Malaysia. Of 507 children screened aged 1-15, 6.1% were classified as having a mental disorder.
    Matched MeSH terms: Infant
  18. Tay CG, Ong LC, Goh KJ, Rahmat K, Fong CY
    J Clin Neurosci, 2015 Dec;22(12):1994-5.
    PMID: 26254091 DOI: 10.1016/j.jocn.2015.07.001
    We report a previously well 10-month-old Somalian girl who acquired asymmetric lower limb weakness in July 2013 in Mogadishu, Banadir, before arriving in Malaysia at 12 months of age. In May 2013, there was a wild poliomyelitis outbreak in that area, as reported by the World Health Organization. Laboratory investigation, including cerebrospinal fluid, was unremarkable, and electrophysiological studies showed active axonal denervation in the left lower limb. The whole spine T2-weighted MRI revealed non-enhancing hyperintensities of the bilateral anterior horn cells, predominantly on the left side at T11-12. The viral isolations from two stool specimens at her presentation to our centre, 2 months after the onset of illness and 2 weeks apart, were negative. Despite lacking the acute virological evidence of poliomyelitis, in view of the girl's clinical, electrophysiological and classical spinal neuroradiological features, together with her temporal relationship with a World Health Organization reported wild poliomyelitis outbreak, we believe these findings are consistent with a diagnosis of imported poliomyelitis. A review at 30 months of age showed persistent left lower limb monoplegia with little recovery. Our patient reiterates the importance of maintaining awareness of wild polio importation, and keeping abreast of the latest news of global poliomyelitis outbreaks when treating patients with flaccid paralysis, even if they arrive from non-endemic poliomyelitis areas.
    Matched MeSH terms: Infant
  19. Reddy SC, Menon BS
    Acta Ophthalmol Scand, 1998 Dec;76(6):700-3.
    PMID: 9881556
    PURPOSE: To determine the prevalence of ocular manifestations in childhood acute leukaemia at the time of presentation.

    METHODS: Eighty-two children with acute leukaemia were examined for ocular lesions within two days of diagnosis before starting chemotherapy. The detailed ocular examination of both eyes was carried out by the ophthalmologist irrespective of the presence or absence of eye symptoms in all cases.

    RESULTS: Only 3 out of 82 children presented with eye symptoms (3.6%). However, ocular changes were found in 14 children (17%); ten with lymphoblastic and four with myeloid leukaemia. The ocular lesions observed were proptosis, intraretinal haemorrhages, white centered haemorrhages, cotton wool spots, macular haemorrhage, subhyaloid haemorrhage, vitreous haemorrhage, papilloedema, cortical blindness, sixth nerve palsy, and exudative retinal detachment with choroidal infiltration.

    CONCLUSION: In view of the high prevalence of asymptomatic ocular lesions in childhood acute leukaemia, routine ophthalmic examination should be included as a part of evaluation at the time of diagnosis.

    Matched MeSH terms: Infant
  20. Laghari M, Sulaiman SAS, Khan AH, Memon N
    BMC Infect Dis, 2019 Jan 24;19(1):82.
    PMID: 30678656 DOI: 10.1186/s12879-019-3702-3
    BACKGROUND: Understanding the explanations behind unsuccessful treatment outcomes in tuberculosis (TB) patients is important to improve treatment success. Treatment completion for TB is the mainstay of TB prevention and control. The study was aimed to assess the treatment outcomes and predictors for unsuccessful outcomes among children with TB.

    METHODS: This was a prospective multicenter study conducted in Sindh. Children aged ≤14 years enrolled from June to November 2016 were included. A structured data collection tool was used to gather information with respect to patients' socio-demographic, clinical and microbiological data. Additionally, to collect the information related to socio-economic and education level of caregivers, validated questionnaire was administered to the caregivers. Treatment outcomes were assessed according to the World Health Organization (WHO) guidelines. The relationship of unsuccessful treatment outcome with socio-demographic and clinical attributes of TB patients was analyzed using logistic regression model.

    RESULTS: Childhood TB represented 19.3% (508/2634) of all TB cases in selected hospitals. Of these, 268/508 (52.8%) were females and one third of the children were aged ≤2 years (34.3%). In multivariate analysis, pulmonary smear positive TB (PTB+) (AOR = 5.910, 95%CI = 1.64-21.29), those with adverse drug reactions (AOR = 11.601, 95%CI = 4.06-33.12) and those who had known TB contacts (AOR = 3.128, 95%CI = 1.21-8.06) showed statistically significant association with unsuccessful treatment outcomes.

    CONCLUSIONS: The high proportion of childhood TB cases (19.3%) demonstrates the continuation of TB transmission in the study setting. Furthermore, an increased focus on PTB+ patients, those with adverse drug reactions and household contact with TB is warranted.

    Matched MeSH terms: Infant
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