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Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene

Spacey SD, Szczygielski BI, Young SP, Hukin J, Selby K, Snutch TP

Can J Neurol Sci, 2004 Aug;31(3):383-6.
PMID: 15376485

BACKGROUND: Friedrich ataxia (FRDA1) is most often the result of a homozygous GAA repeat expansion in the first intron of the frataxin gene (FRDA gene). This condition is seen in individuals of European, North African, Middle Eastern and Indian descent and has not been reported in Southeast Asian populations. Approximately 4% of FRDA1 patients are compound heterozygotes. These patients have a GAA expansion on one allele and a point mutation on the other and have been reported to have an atypical phenotype.
OBJECTIVE: To describe a novel dinucleotide deletion in the FRDA gene in two Malaysian siblings with FRDA1.
SETTING: Tertiary referral university hospital setting.
PATIENTS AND METHODS: A previously healthy 10-year-old Malaysian boy, presented with fever, lethargy, headaches, dysarthria, dysphagia, vertigo and ataxia which developed over a one week period. His neurological exam revealed evidence of dysarthria and ataxia, mild generalized weakness and choreoform movements of the tongue and hands. His reflexes were absent and Babinski sign was present bilaterally. A nine-year-old sister was found to have mild ataxia but was otherwise neurologically intact.
RESULTS: Molecular genetic studies demonstrated that both siblings were compound heterozygotes with a GAA expansion on one allele and a novel dinucleotide deletion on the other allele.
CONCLUSIONS: We describe a novel dinucleotide deletion in the first exon of the FRDA gene in two siblings with FRDA1. Additionally this is the first report of FRDA1 occurring in a family of southeast Asian descent, it demonstrates intrafamilial phenotypic variability, and confirms that atypical phenotypes are associated with compound heterozygosity.

Matched MeSH terms: Iron-Binding Proteins/genetics*
A study of haemolytic streptococci isolated from outpatients in dermatological clinics

Murai T, Inazumi Y, Nishiwaki M, Noda Y, Hino H

Kansenshogaku Zasshi, 1991 Aug;65(8):960-9.
PMID: 1919131

A total of 44 patients suspected of streptococcal infections were studied in outpatient clinics in Tokyo during the one year from December 1988 to December 1989. Employing bacteriological culturing and serodiagnosis, the following results were obtained. 1) There were 9 cases of impetigo and 15 cases of erysipelas with typical clinical manifestations and age distributions. 2) It seemed that some of the skin infections were caused by group A streptococci whose M-types were different from those of upper respiratory infections typically occurring in Japan. 3) The type distribution of group A streptococci found were quite similar to those isolated in Thailand or Malaysia. 4) There were found group A streptococci exhibiting unique combinations of T- and M-types, such as T11 and M9, T11 and M62 or T13-49 and MOD8 (Provisional type). 5) As for serodiagnostic method, ADNB (anti-deoxyribonuclease B) titer reflected infection by group A streptococcus only, while ASK (anti-streptokinase) and ASO (anti-streptolysin O) reflected not only group A streptococcal infections but group G infections as well.

Matched MeSH terms: Iron-Binding Proteins*
Fulltext High prevalence of thyroid antibodies in urban population of Peninsular Malaysia

MA, Shahar, Ahmad Marzuki Omar, N, AB Wahab, N, Sukor, NA, Kamaruddin

IIUM Medical Journal Malaysia, 2020;19(2):3-12.
MyJurnal

INTRODUCTION: Thyroid antibodies are closely related to autoimmune thyroid disorders. To date, there
are no data on the prevalence of these antibodies among the Malaysian population. This study aimed to
determine the prevalence of thyroid antibodies; and the factors associated with thyroid antibodies in the
Malaysian adult population. MATERIALS AND METHODS: A cross-sectional study was performed in 5 preassigned regions in Peninsular Malaysia. Participants’ sociodemographic profile and medical history were
recorded. Physical examinations were done looking for abnormalities of the thyroid gland and signs of thyroid
dysfunctions. Fifteen mils of blood were withdrawn and analysed for thyroid function, anti-thyroperoxidase
(anti-TPO) and anti-thyroglobulin (anti-TG) antibodies at a central laboratory. RESULTS: Among the total of
2190 respondents, the overall prevalence of positive anti-TPO and anti-TG antibodies were 12.2% and 12.1%,
respectively; mainly found in urban and coastal areas. Only 7% to 9% of those with positive anti-TPO or antiTG antibodies had either hypo- or hyperthyroidism. The predictors for positive anti-TPO antibody were
female [adjusted OR 1.7 (95%CI: 1.2–2.4); p=0.001], Indian [adjusted OR 1.9 (95%CI: 1.1–3.1); p=0.020], and
having a goitre [adjusted OR 1.8 (95%CI: 1.2–2.8), p=0.004]. The predictors of positive anti-TG antibody was
female [adjusted OR 2.3 (95%CI: 1.6–3.3); p

Matched MeSH terms: Iron-Binding Proteins
Molecular and clinical investigation of Iranian patients with Friedreich ataxia

Salehi MH, Houshmand M, Aryani O, Kamalidehghan B, Khalili E

Iran Biomed J, 2014;18(1):28-33.
PMID: 24375160

BACKGROUND: Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by guanine-adenine-adenine (GAA) triplet expansions in the FXN gene. Its product, frataxin, which severely reduces in FRDA patients, leads to oxidative damage in mitochondria. The purpose of this study was to evaluate the triple nucleotide repeated expansions in Iranian FRDA patients and to elucidate distinguishable FRDA clinical differences in these patients.
METHODS: A number of 22 Iranian patients (8 females and 14 males) from 16 unrelated families were studied. DNA was extracted from the peripheral blood of patients. The frequency and length of (GAA)n repeats in intron 1 of the FXN gene were analyzed using long-range PCR. In this study, the clinical criteria of FRDA in our patients and the variability in their clinical signs were also demonstrated.
RESULTS: An inverse relationship was observed between GAA repeat size and the age of onset. Although some distinguishable clinical features (such as limb ataxia and lower limb areflexia) were found in our patients, 90-95% of them had extensor plantar response and dysarthria. The results showed only one positive diabetes patient and also different effects on eye movement abnormality among our patients.
CONCLUSION: The onset age of symptoms showed a significant inverse correlation with allele size in our patients (P>0.05). Based on comparisons of the clinical data of all patients, clinical presentation of FRDA in Iranian patients did not differ significantly from other FRDA patients previously reported.

Matched MeSH terms: Iron-Binding Proteins/genetics*
Fulltext Reticulocyte haemoglobin as a biomarker for the detection of iron deficiency anaemia in haemodialysis patients on recombinant human erythropoietin

Jamian, E., Sanip, Z., Ramli, M., Mohd Daud, K., Mohamad, S., Hassan, R.

Journal of Biomedical and Clinical Sciences, 2018;3(2):29-34.
MyJurnal

Iron deficiency anaemia (IDA) frequently occurs in haemodialysis
(HD) patients undergoing recombinant human erythropoietin (rHuEPO)
therapy and is commonly associated with rHuEPO hypo-responsiveness.
However, the conventional iron indices are inadequate to exhibit the status or
utilisation of iron during erythropoiesis. The aim of this study was to elucidate
the accuracy and usefulness of the reticulocyte haemoglobin (RET-He) test
for diagnosing IDA in HD patients undergoing rHuEPO therapy. Methods: In
this cross-sectional study, fifty-five blood samples of HD patients on rHuEPO
therapy were collected and analysed for haematological and biochemical
parameters. A receiver operating characteristics curve was also plotted for
sensitivity and specificity analysis. IDA detection rates by RET-He, soluble
transferrin receptor (sTfR) and serum ferritin were 63.64%, 3.64% and 0%,
respectively. RET-He level was significantly correlated with sTfR level, mean
cell volume, mean cell haemoglobin level and the transferrin receptor-ferritin
index. The sensitivity and specificity of RET-He in detecting IDA were 78.3%
and 92.0%, respectively, with an area under the curve of 0.864. IDA was more
frequently detected by RET-He than by ferritin or sTfR in HD patients
undergoing rHuEPO therapy. The RET-He level also showed higher sensitivity
and specificity for the iron status in these patients. Therefore, RET-He is a
useful biomarker for the detection of IDA in HD patients undergoing rHuEPO
therapy.

Matched MeSH terms: Iron-Binding Proteins