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Fulltext Late presentation of turner syndrome and its complications

Huzairi Sani, Nada Syazana Zulkufli

Journal of Clinical and Health Sciences, 2018;3(2):51-55.
MyJurnal

Turner syndrome is one of the most common sex chromosome abnormalities with an estimated true prevalence of 1 in 2,000 in newborns. This case report is of a girl who presented to the adult endocrinologist at 16 years of age and subsequently diagnosed with Turner syndrome. Despite frequenting clinics for unrelated ailments, her short stature was overlooked hence not investigated for a causative pathology. The aim of this report is to explore the diagnostics of Turner syndrome, hormone treatments available and the importance of starting treatment early.
Fulltext Thyroid Function Test as First-line Investigation of Hyponatremia: Is It Necessary?

Huzairi Sani, Nada Syazana, Zahir Izuan Azhar

Asian Journal of Medicine and Biomedicine, 2020;4(1):12-18.
MyJurnal

Non-severe hypothyroidism has no strong association with hyponatremia. However, thyroid function tests (TFT) continue to be ordered as a first-line investigation. The objective of this study was to establish the prevalence of inpatient hyponatremia and to reiterate the association between thyroid disorders and hyponatremia based on study findings and current literature. A cross-sectional study on 3,478 in-patients adults of both gender admitted to a Malaysian tertiary hospital was carried out. Age, gender, sodium levels, thyroid stimulating hormone (TSH), free thyroxine (fT4) and clinical notes between 1/11/17-31/12/17 were extracted from the hospital’s information system. Bivariate analysis was performed using Mann-Whitney U, Chi-square and Spearman correlation tests. 21.9% of inpatients had hyponatremia of which 52% were mild. 359 (69%) of hyponatremic patients had a TFT sent where 71.9% were euthyroid. Sodium level is significantly correlated with age (R=-0.257, P
Fulltext Calculated parameters for the diagnosis of Wilson disease

Zulkufli NS, Sthaneshwar P, Chan WK

Singapore Med J, 2023 Mar;64(3):188-195.
PMID: 35139628 DOI: 10.11622/smedj.2022019

INTRODUCTION: The diagnosis of Wilson disease (WD) is plagued by biochemical and clinical uncertainties. Thus, calculated parameters have been proposed. This study aimed to: (a) compare the diagnostic values of non-caeruloplasmin copper (NCC), NCC percentage (NCC%), copper-caeruloplasmin ratio (CCR) and adjusted copper in WD; and (b) derive and evaluate a discriminant function in diagnosing WD.
METHODS: A total of 213 subjects across all ages who were investigated for WD were recruited. WD was confirmed in 55 patients, and the rest were WD free. Based on serum copper and caeruloplasmin values, NCC, NCC%, CCR and adjusted copper were calculated for each subject. A function was derived using discriminant analysis, and the cut-off value was determined through receiver operating characteristic analysis. Classification accuracy was found by cross-tabulation.
RESULTS: Caeruloplasmin, total copper, NCC, NCC%, CCR, adjusted copper and discriminant function were significantly lower in WD compared to non-WD. Discriminant function showed the best diagnostic specificity (99.4%), sensitivity (98.2%) and classification accuracy (99.1%). Caeruloplasmin levels <0.14 g/L showed higher accuracy than the recommended 0.20 g/L cut-off value (97.7% vs. 87.8%). Similarly, molar NCC below the European cut-off of 1.6 umol/L showed higher accuracy than the American cut-off of 3.9 umol/L (80.3% vs. 59.6%) (P < 0.001). NCC%, mass NCC, CCR and adjusted copper showed poorer performances.
CONCLUSION: Discriminant function differentiates WD from non-WD with excellent specificity, sensitivity and accuracy. Performance of serum caeruloplasmin <0.14 g/L was better than that of <0.20 g/L. NCC, NCC%, CCR and adjusted copper are not helpful in diagnosing WD.

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