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Fulltext Association between Serum 25 (OH) Vitamin D Concentrations and Inflammatory Bowel Diseases (IBDs) Activity

Hassan V, Hassan S, Seyed-Javad P, Ahmad K, Asieh H, Maryam S, et al.

Med J Malaysia, 2013;68(1):34-8.
PMID: 23466764

Inflammatory bowel diseases (IBDs) are immune mediated diseases affecting the gastrointestinal tract. Several environmental factors in concert with genetic susceptibilities can trigger IBDs. Recently, one of the important environmental factors contributing to the development of autoimmune diseases is vitamin D (VitD) deficiency. Furthermore, some new evidence points to VitD deficiency and its receptor dysfunction as an underlying factor for the emergence experimental IBDs. The aim of the current study was to evaluate the correlation between serum 25(OH)D concentrations and IBD activity in patients with ulcerative colitis or Crohn's disease. Sixty patients with confirmed diagnosis of IBD were recruited for a cross sectional study. Most of the identified confounders affecting serum VitD concentrations were excluded. Disease activity was assessed using validated questionnaires, including Truelove for Ulcerative Colitis and Crohn Disease Activity Index (CDAI) for Crohn disease. Serum 25(OH)D concentrations were determined by chemiluminescent assay. Serum 25(OH)D≤10 (ng/ml) was considered as VitD deficiency and 11≤25(OH)D<29(ng/ml) as VitD insufficiency. Mean serum 25(OH)D value was 13.1 ± 11.1(ng/ml) in IBD patients. Almost 95% of patients were vitamin D insufficient or deficient. Forty one percent of IBD patients had active disease. VitD deficiency was not associated with IBD activity (p=0.23). However, VitD deficiency was significantly associated with a history of IBD related intestinal surgery (p=0.001). In conclusion, this cross-sectional prospective study suggested that there is no association between vitamin D deficiency and disease activity in a relatively small number of IBD patients in a short period of time.

Matched MeSH terms: Vitamin D Deficiency*
RASGRP1 Deficiency Associated with Diffuse Mesangial Sclerosis Infantile Nephrotic Syndrome and Epstein-Barr Virus-Induced Hodgkin's Lymphoma

Mohamed Nashrudin KN, Zainal Abidin MA, Ng SE, Razali H, Jawin V, Zakaria AF, et al.

Pediatr Allergy Immunol Pulmonol, 2025 Mar;38(1):11-20.
PMID: 39752212 DOI: 10.1089/ped.2024.0062

Background: RAS guanyl-releasing protein 1 (RASGRP1) deficiency is characterized by immune dysregulation and Epstein-Barr virus (EBV)-related lymphoproliferation. Diffuse mesangial sclerosis is one of the infrequent causes of infantile nephrotic syndrome. Case Presentation: Here, we described a 7-year-old girl who was diagnosed with diffuse mesangial sclerosis at 5 months old and subsequently developed chronic bilateral neck swelling at the age of 3 years. Clinical assessment and investigations revealed a complex clinical picture, including recurrent cervical lymphadenopathy and recurrent infections. Further evaluation revealed immunological deficiencies, autoimmune lymphoproliferative syndrome-like illness, chronic EBV infection, and ultimately Hodgkin lymphoma. Genetic testing identified a RASGRP1 homozygous loss-of-function variant with both parents being carriers. Conclusion: This is the first reported case of RASGRP1 deficiency in Malaysia, and we highlight the challenges clinicians face when the disease manifests in varied presentations.

Matched MeSH terms: DNA-Binding Proteins/deficiency
Some aspects of vitamin C: a review

Oliveiro CJ

Malayan Medical Journal, 1932;7:15-8.

Matched MeSH terms: Ascorbic Acid Deficiency
The treatment of acute cardiac beri-beri or 'shoshin' with massive doses of vitamin B1

Hawes RB, Monteiro ES, Smith CE

Journal of the Malaya Branch of the British Medical Association, 1937;1:87-96.

Matched MeSH terms: Thiamine Deficiency
Fulltext Memorandum on ancylostomiasis or the anaemia of Ceylon

Kynsey WR

Journal of the Straits Medical Association, 1891;2:32-7.

Matched MeSH terms: Anemia, Iron-Deficiency
Primary immunodeficiency disorders in Kuwait: first report from Kuwait National Primary Immunodeficiency Registry (2004--2006)

Al-Herz W

J Clin Immunol, 2008 Mar;28(2):186-93.
PMID: 18008151

Primary immunodeficiency disorders are heterogeneous group of illnesses that predispose patients to serious complications. Registries for these disorders have provided important epidemiological data and shown both racial and geographical variations. The clinical features of 76 patients with primary immunodeficiency disorders registered in Kuwait National Primary Immunodeficiency Registry from 2004 to 2006 were recorded. Ninety-eight percent of the patients presented in childhood. The prevalence of these disorders in children was 11.98 in 100,000 children with an incidence of 10.06 in 100,000 children. The distribution of these patients according to each primary immunodeficiency category is: combined T and B cell immunodeficiencies (21%), predominantly antibody immunodeficiency (30%), other well defined immunodeficiencies (30%), diseases of immune dysregulation (7%), congenital defects of phagocyte number, function or both (8%), and complement deficiencies (4%). The consanguinity rate within the registered patients was 77%. The patients had a wide range of clinical features affecting different body systems. Primary immunodeficiency disorders are prevalent in Kuwait and have a significant impact into the health system.

Matched MeSH terms: Immunologic Deficiency Syndromes/diagnosis; Immunologic Deficiency Syndromes/genetics; Immunologic Deficiency Syndromes/epidemiology*
Fulltext The Relationship between Vitamin K and Osteoarthritis: A Review of Current Evidence

Chin KY

Nutrients, 2020 Apr 25;12(5).
PMID: 32344816 DOI: 10.3390/nu12051208

Vitamin K is a cofactor of γ-glutamyl carboxylase, which plays an important role in the activation of γ-carboxyglutamate (gla)-containing proteins that negatively regulate calcification. Thus, vitamin K status might be associated with osteoarthritis (OA), in which cartilage calcification plays a role in the pathogenesis of the disease. This review collates the evidence on the relationship between vitamin K status (circulating or dietary intake level of vitamin K, or circulating uncarboxylated gla proteins) and OA from human observational studies and clinical trial, to examine its potential as an agent in preventing OA. The current literature generally agrees that a sufficient level of vitamin K is associated with a lower risk of OA and pathological joint features. However, evidence from clinical trials is limited. Mechanistic study shows that vitamin K activates matrix gla proteins that inhibit bone morphogenetic protein-mediated cartilage calcification. Gla-rich proteins also inhibit inflammatory cascade in monocytic cell lines, but this function might be independent of vitamin K-carboxylation. Although the current data are insufficient to establish the optimal dose of vitamin K to prevent OA, ensuring sufficient dietary intake seems to protect the elderly from OA.

Matched MeSH terms: Vitamin K Deficiency/complications; Vitamin K Deficiency/etiology; Vitamin K Deficiency/metabolism
Enzyme activity of glucose-6-phosphate dehydrogenase-deficient Malaysian neonates during the first 10 days of life

Boo NY, Ainoon O, Arif ZA, Cheong SK, Haliza MS

J Paediatr Child Health, 1995 Feb;31(1):44-6.
PMID: 7748690

OBJECTIVE: The objective of this study was to determine the degree of severity of enzyme deficiency in glucose-6-phosphate dehydrogenase (G6PD)-deficient Malaysian neonates as part of an effort to identify risk factors associated with severe hyperbilirubinaemia in G6PD-deficient infants.
METHODOLOGY: During this study, enzyme activity was measured in 53/59 (89.8%) hospital-diagnosed G6PD-deficient neonates (34 Malays, 12 Chinese, and seven other ethnic groups) born consecutively in the Kuala Lumpur Maternity Hospital. All neonates, except one, were males.
RESULTS: The mean level of enzyme activity of the 52 males G6PD-deficient neonates (0.47 iu/g Hb, 95% confidence intervals: 0.37, 0.57) was less than 10% of that of normal Malaysian male neonates. The enzyme activity of the only female G6PD-deficient infant, at 1.11 iu/g Hb, was 12.5% of the mean G6PD enzyme activity of normal females.
CONCLUSION: Our results showed that G6PD deficiency in Malaysian neonates predominantly affects males and is usually severe.

Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/complications; Glucosephosphate Dehydrogenase Deficiency/enzymology*; Glucosephosphate Dehydrogenase Deficiency/ethnology
Fulltext Intracranial haemorrhage due to late haemorrhagic disease of infancy

Yeo TC

Med J Malaysia, 1987 Dec;42(4):276-83.
PMID: 3454400

Thirteen cases of late haemorrhagic disease of infancy due to vitamin K deficiency presenting with intracranial haemorrhage were seen over a three - year period from 1984 to 1986. The clinical picture was fairly typical; a short history of being unwell (poor feeding, vomiting, irritability, high pitched cry, fits) and physical findings of pallor, a normal body temperature, impairment of consciousness, abnormal respiration and a very tense anterior fontanelle. Vitamin K deficiency was implicated by the prolonged prothrombin time which rapidly returned to normal with vitamin K injection. The outcome was poor. Possible factors giving rise to vitamin K deficiency are discussed. The author suggests the introduction of the giving of vitamin K to all new-borns.

Matched MeSH terms: Vitamin K Deficiency Bleeding/complications*; Vitamin K Deficiency/complications
VITAMIN A PROTEIN DEFICIENCY IN MALAYAN CHILDREN

THOMSON DL, RUIZ E, BAANDKAR M

Trans R Soc Trop Med Hyg, 1964 Sep;58:425-31.
PMID: 14206699
Matched MeSH terms: Protein Deficiency*; Vitamin A Deficiency*
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

Rokicki D, Pajdowska M, Trubicka J, Thong MK, Ciara E, Piekutowska-Abramczuk D, et al.

Clin Chim Acta, 2017 Aug;471:95-100.
PMID: 28526534 DOI: 10.1016/j.cca.2017.05.023

The urea cycle disorder carbamoyl phosphate synthetase I deficiency is an important differential diagnosis in the encephalopathic neonate. This intoxication type inborn error of metabolism often leads to neonatal death or severe and irreversible damage of the central nervous system, even despite appropriate treatment. Timely diagnosis is crucial, but can be difficult on routine metabolite level. Here, we report ten neonates from eight families (finally) diagnosed with CPS1 deficiency at three tertiary metabolic centres. In seven of them the laboratory findings were dominated by significantly elevated urinary 3-methylglutaconic acid levels which complicated the diagnostic process. Our findings are both important for the differential diagnosis of patients with urea cycle disorders and also broaden the differential diagnosis of hyperammonemia associated with 3-methylglutaconic aciduria, which was earlier only reported in TMEM70 and SERAC1 defect.

Matched MeSH terms: Carbamoyl-Phosphate Synthase I Deficiency Disease/diagnosis; Carbamoyl-Phosphate Synthase I Deficiency Disease/genetics; Carbamoyl-Phosphate Synthase I Deficiency Disease/urine*
Small Rho GTPases and their associated RhoGEFs mutations promote immunological defects in primary immunodeficiencies

Hashim IF, Ahmad Mokhtar AM

Int J Biochem Cell Biol, 2021 08;137:106034.
PMID: 34216756 DOI: 10.1016/j.biocel.2021.106034

Primary immunodeficiencies (PIDs) are associated with deleterious mutations of genes that encode proteins involved in actin cytoskeleton reorganisation. This deficiency affects haematopoietic cells. PID results in the defective function of immune cells, such as impaired chemokine-induced motility, receptor signalling, development and maturation. Some of the genes mutated in PIDs are related to small Ras homologous (Rho) guanosine triphosphatase (GTPase), one of the families of the Ras superfamily. Most of these genes act as molecular switches by cycling between active guanosine triphosphate-bound and inactive guanosine diphosphate-bound forms to control multiple cellular functions. They are best studied for their role in promoting cytoskeleton reorganisation, cell adhesion and motility. Currently, only three small Rho GTPases, namely, Rac2, Cdc42 and RhoH, have been identified in PIDs. However, several other Rho small G proteins might also contribute to the deregulation and phenotype observed in PIDs. Their contribution in PIDs may involve their main regulator, Rho guanine nucleotide exchange factors such as DOCK2 and DOCK8, wherein mutations may result in the impairment of small Rho GTPase activation. Thus, this review outlines the potential contribution of several small Rho GTPases to the promotion of PIDs.

Matched MeSH terms: Immunologic Deficiency Syndromes/genetics; Immunologic Deficiency Syndromes/immunology; Immunologic Deficiency Syndromes/pathology*
Developmental haemostasis for factor V and factor VIII levels in neonates: a case report of spontaneous cephalhaematoma

Abdullah WZ, Ismail R, Nasir A, Mohamad N, Hassan R

Fetal Pediatr Pathol, 2013 Apr;32(2):77-81.
PMID: 22536947 DOI: 10.3109/15513815.2012.671447

Combined factor V and VIII deficiency is a rare bleeding disorder. Diagnosis of congenital coagulation factor deficiency in a neonate is challenging due to "immaturity" of the hemostatic system. A 2-day-old baby girl presented with spontaneous cephalhematoma. She was found to have persistent abnormal coagulation tests and finally diagnosed as combined factor V and VIII deficiency. Interestingly, factor V and factor VIII in developmental hemostasis are quite similar with adult levels in newborn, and hence early diagnosis is possible. An investigation to detect underlying hemostatic defects is recommended in newborns with spontaneous cephalhematoma.

Matched MeSH terms: Factor V Deficiency/complications*; Factor VII Deficiency/complications*
Fulltext Recurrent intracranial haemorrhages in a patient with factor seven deficiency: a case report

Fadzil F

Med J Malaysia, 2011 Aug;66(3):261-3.
PMID: 22111455

Inherited factor VII (FVII) deficiency is a rare autosomal recessive hemorrhagic disorder. Clinical bleeding can vary widely and does not always correlate with the level of FVII coagulant activity measured in plasma. Most severe cases of factor VII (FVII) deficiency are diagnosed during childhood, often during the first 6 months of life. In infancy, the most common sites of bleeding occur in the gastrointestinal tract or CNS, accounting for 60-70% of bleeds in this age group. Recombinant factor VIIa (rFVIIa) is one such agent, which has been shown to prevent hematoma expansion and improve outcome in acute intracranial haemorrhages. The purpose of this case report is to share our experience regarding the usefulness of rFVIIa in the management of acute intracranial haemorrhage.

Matched MeSH terms: Factor VII Deficiency/complications*; Factor VII Deficiency/diagnosis*; Factor VII Deficiency/therapy
Serum Vitamin D levels in patients with chronic kidney disease

Rozita M, Noorul Afidza M, Ruslinda M, Cader R, Halim AG, Kong CT, et al.

EXCLI J, 2013;12:511-20.
PMID: 26933400

Hypovitaminosis D is reported to be associated with several medical complications. Recent studies have reported a high worldwide prevalence of Vitamin D deficiency in the general population (up to 80 %). This is even higher in patients with chronic kidney disease (CKD) and increases with advancing stages of CKD.

Matched MeSH terms: Vitamin D Deficiency
Nine different glucose-6-phosphate dehydrogenase (G6PD) variants in a Malaysian population with Malay, Chinese, Indian and Orang Asli (aboriginal Malaysian) backgrounds

Wang J, Luo E, Hirai M, Arai M, Abdul-Manan E, Mohamed-Isa Z, et al.

Acta Med Okayama, 2008 Oct;62(5):327-32.
PMID: 18985093

The Malaysian people consist of several ethnic groups including the Malay, the Chinese, the Indian and the Orang Asli (aboriginal Malaysians). We collected blood samples from outpatients of 2 hospitals in the State of Selangor and identified 27 glucose-6-phosphate dehydrogenase (G6PD)-deficient subjects among these ethnic groups. In the Malay, G6PD Viangchan (871GA, 1311CT, IVS11 nt93TC) and G6PD Mahidol (487GA) types, which are common in Cambodia and Myanmar, respectively, were detected. The Malay also had both subtypes of G6PD Mediterranean:the Mediterranean subtype (563CT, 1311CT, IVS11 nt93TC) and the Indo-Pakistan subtype (563CT, 1311C, IVS11 nt93T). In Malaysians of Chinese background, G6PD Kaiping (1388GA), G6PD Canton (1376GT) and G6PD Gaohe (95AG), which are common in China, were detected. Indian Malaysians possessed G6PD Mediterranean (Indo-Pakistan subtype) and G6PD Namoru (208TC), a few cases of which had been reported in Vanuatu and many in India. Our findings indicate that G6PD Namoru occurs in India and flows to Malaysia up to Vanuatu. We also discovered 5 G6PD-deficient cases with 2 nucleotide substitutions of 1311CT and IVS11 nt93TC, but without amino-acid substitution in the G6PD molecule. These results indicate that the Malaysian people have incorporated many ancestors in terms of G6PD variants.

Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/blood; Glucosephosphate Dehydrogenase Deficiency/ethnology; Glucosephosphate Dehydrogenase Deficiency/genetics*
The clinical significance of immunoglobulin A deficiency

Latiff AH, Kerr MA

Ann. Clin. Biochem., 2007 Mar;44(Pt 2):131-9.
PMID: 17362578 DOI: 10.1258/000456307780117993

IgA deficiency is the most common primary immunoglobulin deficiency. The prevalence in Caucasians is around one in 500, whereas in some Asian populations it is very uncommon. Most individuals with IgA deficiency are clinically asymptomatic. Those with symptoms of immunodeficiency have predominantly sinopulmonary or gastrointestinal infections, which are more severe when associated with IgG2, IgG4 or specific antibody deficiency. IgA deficiency is believed to be one end of a spectrum of immunodeficiency with common variable immunodeficiency at the most severe end. Although primary IgA deficiency is the most commonly encountered form, secondary deficiencies due to drugs or viral infections are recognized. IgA deficiencies can be partial or transient. Primary IgA deficiency is caused by a defect of terminal lymphocyte differentiation, which leads to underproduction of serum and mucosal IgA; affected individuals have normal IgA genes. A number of non-immunoglobulin genes have been implicated in IgA deficiency. There have been many diseases reported in association with IgA deficiency, particularly autoimmune diseases. The most common association is with coeliac disease (CD), which has special significance since CD is usually diagnosed by detection of specific IgA antibodies that are obviously lacking in IgA deficiency. There is no specific treatment for patients with symptomatic IgA deficiency. Antibiotics are prescribed in those with acute infections. A significant proportion of IgA-deficient individuals are reported to have anti-IgA antibodies in their serum. Although blood or blood products given to IgA-deficient individuals can lead to severe, even fatal, transfusion reactions, such reactions are rare.

Matched MeSH terms: IgA Deficiency/complications; IgA Deficiency/metabolism; IgA Deficiency/pathology*
Modification to reporting of qualitative fluorescent spot test results improves detection of glucose-6-phosphate dehydrogenase (G6PD)-deficient heterozygote female newborns

Nadarajan V, Shanmugam H, Sthaneshwar P, Jayaranee S, Sultan KS, Ang C, et al.

Int J Lab Hematol, 2011 Oct;33(5):463-70.
PMID: 21501392 DOI: 10.1111/j.1751-553X.2011.01309.x

INTRODUCTION:
The glucose-6-phosphate dehydrogenase (G6PD) fluorescent spot test (FST) is a useful screening test for G6PD deficiency, but is unable to detect heterozygote G6PD-deficient females. We sought to identify whether reporting intermediate fluorescence in addition to absent and bright fluorescence on FST would improve identification of mildly deficient female heterozygotes.

METHODS:
A total of 1266 cord blood samples (705 male, 561 female) were screened for G6PD deficiency using FST (in-house method) and a quantitative enzyme assay. Fluorescence intensity of the FST was graded as either absent, intermediate or normal. Samples identified as showing absent or intermediate fluorescence on FST were analysed for the presence of G6PD mutations using TaqMan@SNP genotyping assays and direct nucleotide sequencing.

RESULTS:
Of the 1266 samples, 87 samples were found to be intermediate or deficient by FST (49 deficient, 38 intermediate). Of the 49 deficient samples, 48 had G6PD enzyme activity of ≤ 9.5 U/g Hb and one sample had normal enzyme activity. All 38 intermediate samples were from females. Of these, 21 had G6PD activity of between 20% and 60%, and 17 samples showed normal G6PD activity. Twenty-seven of the 38 samples were available for mutation analysis of which 13 had normal G6PD activity. Eleven of the 13 samples with normal G6PD activity had identifiable G6PD mutations.

CONCLUSION:
Glucose-6-phosphate dehydrogenase heterozygote females cannot be identified by FST if fluorescence is reported as absent or present. Distinguishing samples with intermediate fluorescence from absent and bright fluorescence improves detection of heterozygote females with mild G6PD deficiency. Mutational studies confirmed that 85% of intermediate samples with normal enzyme activity had identifiable G6PD mutations.

Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/diagnosis*; Glucosephosphate Dehydrogenase Deficiency/genetics*; Glucosephosphate Dehydrogenase Deficiency/metabolism
Congenital factor VII deficiency: a case report

Zarina L, Hamidah A, Rohana J, Faraizah AK, Noryati AA, Jamal R, et al.

Malays J Pathol, 2004 Jun;26(1):65-7.
PMID: 16190109

Factor VII deficiency is a rare congenital blood disorder. Its clinical features are rather variable and ranges from epistaxis to massive intracranial haemorrhage. Treatment involves replacement therapy, which constitutes use of fresh frozen plasma, prothrombin complex concentrates or recombinant activated factor VII. Although it is a rare entity, one still needs to consider it as a probable diagnosis in a newborn with coagulopathy. We report here a case of Factor VII deficiency in a newborn who presented with subdural haemorrhage at day 4 of life.

Matched MeSH terms: Factor VII Deficiency/diagnosis*; Factor VII Deficiency/pathology; Factor VII Deficiency/therapy
Normocytic Anemia in Pregnant Women: A Scoping Review

Sharief SA, Minhajat R, Riu DS, Bukhari A, Amir H

Med J Malaysia, 2024 Sep;79(5):646-657.
PMID: 39352168

INTRODUCTION: The iron supplementation program for pregnant women is the main program for tackling anemia in various countries, especially in developing countries in which daily diets may lack sufficient iron intake. In Indonesia, it is recommended that expectant mothers ingest 90 iron tablets during their pregnancy; however, the World Health Organization reports that 37% of pregnant women in the country continue to experience anemia. Iron deficiency anemia consistently emerges as the primary etiology for diagnosing anemia; however, it is important to recognize that anemia can stem from various factors beyond just lack of iron. In addition to iron deficiency, chronic illnesses and infections significantly contribute to the prevalence of anemia worldwide. Consequently, this literature review endeavors to uncover the underlying factors responsible for normocytic anemia among pregnant women, focusing on developing countries.
MATERIALS AND METHODS: Eight search engines, specifically Proquest, EbscoHost, Scopus, Cochrane Library, Science Direct, Wiley Online Library, PubMed, Google Scholar, and Garuda, were utilized to identify primary articles. Three independent reviewers assessed abstracts and full articles based on specific inclusion and exclusion criteria. The data collected encompassed information regarding the population under study, research methods employed, and primary findings pertinent to the review's objectives. Fifteen studies, published between 2014 and 2023, that met the eligibility criteria outlined in the PRISMA-ScR.
RESULTS: Among the 15 studies on normocytic anemia in pregnant women, malaria and HIV were the highest causes of normocytic anemia, followed by worm/intestinal parasite infections, chronic diseases, and bleeding.. In pregnant women, anemia of chronic disease and infection often coexists with iron deficiency anemia, both show decrease serum iron levels. Hence, other investigations need to be carried out to diagnose with certainty the cause of anemia in pregnant women.
CONCLUSION: Anemia is not a standalone disease but rather a symptom of various underlying diseases. Therefore, diagnosing anemia requires identifying the basic disease that causes anemia, rather than simply labeling it as anemia.

Matched MeSH terms: Anemia, Iron-Deficiency/diagnosis; Anemia, Iron-Deficiency/etiology; Anemia, Iron-Deficiency/epidemiology

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