CASE PRESENTATION: Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy.
CONCLUSION: Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.
DESIGN: Cross-sectional study.
SETTING: Adolescent girls at secondary schools in the Klang Valley, Malaysia.
POPULATION: 729 adolescents aged between 13 and 18 years.
METHOD: A questionnaire survey using Menorrhagia Questionnaire and Paediatric Quality of Life-Teen Report Ages 13-18 (PedsQL).
MAIN OUTCOME MEASURES: Self reports of menstrual bleeding patterns, morbidities and effect on quality of life.
RESULTS: The prevalence of menstrual problems among adolescents was 63.9% in the Klang Valley. Adolescents with menstrual problems had significant lower mean total score of PedsQL (70.23±13.53 vs 76.36±14.93, p=0.001), physical health summary score (74.10±16.83 vs 79.00±15.86, p<0.001) and psychosocial health summary score (68.05±14.27 vs 73.21±13.09, p=0.001) compared with those without menstrual problem. Adolescents experiencing heavy menses bleeding had the lowest physical and emotional function. Those with oligomenorrhoea had the lowest social function, whereas those with dysmenorrhoea had the lowest school function. Cigarette smoking, alcohol and medical illness had lower health-related quality of life, whereas taking oral contraceptive pills for menstrual problems was associated with higher scores in these adolescents.
CONCLUSION: Menstrual problems among adolescents have a significant impact on their quality of life. It is probably wise to screen them at the school level, to identify those with low functional scores and to refer them for proper management at a tertiary adolescent gynaecology centre.
METHODS: CYP proteins expressed in Escherichia coli were studied using the substrate 3-cyano-7- ethoxycoumarin (CEC) and inhibitor probes (quinidine, fluoxetine, paroxetine, terbinafine) in the enzyme assay. Computer modelling was additionally used to create three-dimensional structures of the CYP2D6*14 variants.
RESULTS: Kinetics data indicated significantly reduced intrinsic clearance in CYP2D6*14 variants, suggesting that P34S, G169R, R296C, and S486T substitutions worked cooperatively to alter the conformation of the active site that negatively impacted the deethylase activity of CYP2D6. For the inhibition studies, IC50 values decreased in quinidine, paroxetine, and terbinafine but increased in fluoxetine, suggesting a varied ligand-specific susceptibility to inhibition. Molecular docking further demonstrated the role of P34S and R296C in altering access channel dimensions, thereby affecting ligand access and binding and subsequently resulting in varied inhibition potencies.
CONCLUSION: In summary, the differential selectivity of CYP2D6*14 variants for the ligands (substrate and inhibitor) was governed by the alteration of the active site and access channel architecture induced by the natural mutations found in the alleles.
AIMS: Aim of our study was to investigate the association between tooth loss and increased blood pressure among adult patients.
METHODS AND MATERIAL: A cross-sectional study among 270 adults aged 20-59 years was conducted. The dependent variables were systolic blood pressure (SBP) and diastolic blood pressure (DBP). The main exploratory variable was the number of self-reported natural teeth for each dental arch. They were recorded as 10 or more natural teeth, less than 10 natural teeth, and no natural teeth. Data were analyzed using descriptive statistics, independent t-test, ANOVA, and multiple linear regression analysis.
RESULTS: Mean SBP was 125.3 mmHg and DBP was 78.9 mmHg. Moreover, 29.3% of participants had hypertension, 8.9% were edentulous, 22.8% had lost more than 10 teeth, and 68.3% had lost less than 10 teeth. Increased SBP was seen with increased tooth loss among participants. After adjusting for all covariates, no significant association between tooth loss and SBP and DBP was seen.
CONCLUSIONS: The mean SBP was higher among the participants who were edentulous than partially edentulous. However, there was no significant association between tooth loss and SBP and DBP after adjusting for confounding factors.
METHODS: A retrospective study involving pregnant women with SLE who had antenatal follow-up and delivery in between 1 January 2007 and 1 January 2017. All participants were retrospectively enrolled and categorized into two groups based on hydroxychloroquine treatment during pregnancy.
RESULTS: There were 82 pregnancies included with 47 (57.3%) in the hydroxychloroquine group and 35 (42.7%) in the non-hydroxychloroquine group. Amongst hydroxychloroquine users, there were significantly more pregnancies with musculoskeletal involvement (p = 0.03), heavier mean neonatal birthweight (p = 0.02), and prolonged duration of pregnancy (p = 0.001). In non-hydroxychloroquine patients, there were significantly more recurrent miscarriages (p = 0.003), incidence of hypertension (p = 0.01) and gestational diabetes mellitus (p = 0.01) and concurrent medical illness (p = 0.005). Hydroxychloroquine use during pregnancy was protective against hypertension (p = 0.001), and the gestational age at delivery had significant effect on the neonatal birthweight (p = 0.001). However, duration of the disease had a significant negative effect on the neonatal birthweight (p = 0.016).
CONCLUSION: Hydroxychloroquine enhanced better neonatal outcomes and reduced adverse pregnancy outcomes and antenatal complications such as hypertension and diabetes.
METHODS: A cross-sectional study was conducted among aboriginal populations that reside in Pahang, Peninsular Malaysia in Feb to Mar 2015. A total of 359 stool samples were examined using Wheatley's trichrome stain, in-vitro cultivation in Jones' medium and PCR assay. Positive amplicons were subjected to sequencing and phylogenetic analysis.
RESULTS: Fifty-six (15.6%) samples were detected positive with Blastocystis sp. by Wheatley's trichrome stain and 73 (20.3%) by in-vitro culture, while PCR assay detected 71 (19.8%) positive samples. Detection rate of Blastocystis sp. was highest in combination of microscopic techniques (27.9%). The sensitivity and specificity of Wheatley's trichrome staining and in-vitro culture techniques compared to PCR assay were 49.3% (95% CI: 37.2-61.4) and 92.7% (95% CI: 89.1-95.4) and 39.4% (95% CI: 28.0-51.8) and 84.4% (95% CI: 79.7-88.4), respectively. However, the sensitivity [60.6% (95% CI: 48.3-71.9)] of the method increased when both microscopic techniques were performed together. False negative results produced by microscopic techniques were associated with subtype 3. The agreement between Wheatley's trichrome stain, in-vitro culture and combination of microscopic techniques with PCR assay were statistically significant by Kappa statistics (Wheatley's trichrome stain: K = 0.456, P<0.001; in-vitro culture: K = 0.236, P<0.001 and combination techniques: K = 0.353, P<0.001).
CONCLUSION: The combination of microscopic technique is highly recommended to be used as a screening method for the diagnosis of Blastocystis infection either for clinical or epidemiological study to ensure better and accurate diagnosis.