CASE PRESENTATION: We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for these until age 3 years. During surgery, the right gonad was atrophic and removed. Histology revealed atrophic ovarian tissue. Pelvic ultrasound showed no Mullerian structures. There was however no clinical follow up and he was raised as a boy. At 12 years old he was re-evaluated because of parental concern about his 'female' body habitus. He was slightly overweight, had eunuchoid body habitus with mild gynaecomastia. The right scrotal sac was empty and a 2mls testis was present in the left scrotum. Penile length was 5.2 cm and width 2.0 cm. There was absent pubic or axillary hair. Pronation and supination of his upper limbs were reduced and x-ray of both elbow joints revealed bilateral radioulnar synostosis. The baseline laboratory data were LH
OBJECTIVE: (i) To examine the triglyceride glucose (TyG) index (Ln[fasting triglycerides (mg/dL) × fasting glucose (mg/dL)/2]) and its relationship to in vivo insulin sensitivity in obese adolescents (OB) along the spectrum of glucose tolerance and (ii) to compare TyG index with triglyceride/high-density lipoprotein TG/HDL and 1/fasting insulin (1/IF ), other surrogates of insulin sensitivity.
PATIENTS AND DESIGN: Cross-sectional data in 225 OB with normal glucose tolerance (NGT), prediabetes (preDM), and type 2 diabetes (T2DM) who had a 3-h hyperinsulinemic-euglycemic clamp and fasting lipid measurement.
RESULTS: Insulin-stimulated glucose disposal (Rd) declined significantly across the glycemic groups from OB-NGT to OB-preDM to OB-T2DM with a corresponding increase in TyG index (8.3 ± 0.5, 8.6 ± 0.5, 8.9 ± 0.6, p
METHODS: The recruitment of participants' was carried out at Selayang Hospital, Selangor, Malaysia. Vaginal swabs were prospectively taken from 104 patients of PPROM and 111 with spontaneous onset of labour at term. Swabs were also taken from the axillae and ears of their babies. These swabs were cultured to isolate A. baumannii. Maternal and neonatal adverse outcomes were documented.
RESULTS: Sixteen mothers were A. baumannii positive, eight from each group respectively. None of the cases developed chorioamnionitis or sepsis. Those positive were four cases of PPROM and two babies of term labour. None of the babies developed sepsis.
CONCLUSIONS: This study does not support the suggestion that A. baumannii colonisation during pregnancy is associated with adverse maternal and neonatal outcomes.
CASE PRESENTATION: This is a rare case of a pair of 8-year-old monochorionic diamniotic identical twin, who on family cascade screening were diagnosed as definite FH, according to the Dutch Lipid Clinic Criteria (DLCC) with a score of 10. There were no lipid stigmata noted. Baseline lipid profiles revealed severe hypercholesterolaemia, (TC = 10.5 mmol/L, 10.6 mmol/L; LDL-c = 8.8 mmol/L, 8.6 mmol/L respectively). Their father is the index case who initially presented with premature CAD, and subsequently diagnosed as FH. Family cascade screening identified clinical FH in other family members including their paternal grandfather who also had premature CAD, and another elder brother, aged 10 years. Genetic analysis by targeted next-generation sequencing using MiSeq platform (Illumina) was performed to detect mutations in LDLR, APOB100, PCSK9, ABCG5, ABCG8, APOE and LDLRAP1 genes. Results revealed that the twin, their elder brother, father and grandfather are heterozygous for a missense mutation (c.530C > T) in LDLR that was previously reported as a pathogenic mutation. In addition, the twin has heterozygous ABCG8 gene mutation (c.55G > C). Their eldest brother aged 12 years and their mother both had normal lipid profiles with absence of LDLR gene mutation.
CONCLUSION: A rare case of Asian monochorionic diamniotic identical twin, with clinically diagnosed and molecularly confirmed heterozygous FH, due to LDLR and ABCG8 gene mutations have been reported. Childhood FH may not present with the classical physical manifestations including the pathognomonic lipid stigmata as in adults. Therefore, childhood FH can be diagnosed early using a combination of clinical criteria and molecular analyses.
Methods: Analyses were performed on 243 women (mean body mass index 31.27 ± 4.14 kg/m2) who completed a 12-month lifestyle intervention in low socioeconomic communities in Klang Valley, Malaysia. Analysis of covariance (ANCOVA) was used to compare changes of cardiometabolic risk factors across weight change categories (2% gain, ±2% maintain, >2 to <5% loss, and 5 to 20% loss) within intervention and control group.
Results: A graded association for changes in waist circumference, fasting insulin, and total cholesterol (p=0.002, for all variables) across the weight change categories were observed within the intervention group at six months postintervention. Participants who lost 5 to 20% of weight had the greatest improvements in those risk markers (-5.67 cm CI: -7.98 to -3.36, -4.27 μU/mL CI: -7.35, -1.19, and -0.59 mmol/L CI: -.99, -0.19, respectively) compared to those who did not. Those who lost >2% to <5% weight reduced more waist circumference (-4.24 cm CI: -5.44 to -3.04) and fasting insulin (-0.36 μU/mL CI: -1.95 to 1.24) than those who maintained or gained weight. No significant association was detected in changes of risk markers across the weight change categories within the control group except for waist circumference and adiponectin.
Conclusion: Weight loss of >2 to <5% obtained through lifestyle intervention may represent a reasonable initial weight loss target for women in the low socioeconomic community as it led to improvements in selected risk markers, particularly of diabetes risk.
Methods: A cross-sectional study involving 503 drug naive subjects (163 males, aged 30-65 years old (mean age ± SD = 47.4 ± 8.3 years)) divided into MS, COB and NC groups. COB was defined as central obesity (waist circumference (WC) males ≥90 cm, females ≥80 cm) in the absence of MS according to the International Diabetes Federation 2006. Fasting blood levels of tPA and PAI-1were analyzed.
Results: MS and COB had significantly higher concentration of all biomarkers compared to NC. The MS group had significantly higher concentration of tPA and PAI-1 compared to COB. WC and HDL-c had significant correlation with all biomarkers (tPA p < 0.001, PAI-1 p < 0.001). Fasting plasma glucose and diastolic blood pressure were independent predictors after correcting for confounding factors.
Conclusion: Central obesity with or without MS both demonstrated enhanced prothrombogenesis. This suggests that simple obesity possibly increases the risk of coronary artery disease in part, via increased susceptibility to thrombogenesis.
CASE REPORT: Primary and secondary causes of hyperlipidaemia were investigated. Her blood was sent for fasting lipid profile, thyroid function test (TFT), fasting plasma glucose (FPG), liver function test (LFT), renal profile (RP) and HIV screening. Lipaemic interference was removed by high-speed centrifugation. She is a product of non-consanguineous marriage. She is staying together with her stepfather who is HIV positive. Her mother's infective status was negative with no dyslipidaemic features and a normal lipid profile. Lipid profile of her biological father was not known. No other lipid stigmata such as eruptive xanthoma or lipaemia retinalis was seen in the patient. Haemoglobin analysis showed Hb E-Beta thalassaemia major. Her triglycerides was 9.05 mmol/L with normal total cholesterol, 2.85 mmol/L and high-density lipoprotein cholesterol (HDL-c), 0.26 mmol/L. Calculated low-density lipoprotein cholesterol (LDL-c) was invalid as triglycerides was >4.5 mmol/L. TFT, RP, FPG, LFT were normal and HIV status was negative. She was transfused with 10 ml/kg packed cell and her blood post transfusion appeared non lipaemic.
CONCLUSION: Primary hypertriglyceridaemia was excluded based on insignificant family history of dyslipidaemia. Secondary causes of hypertriglyceridaemia were ruled out based on unremarkable laboratory investigations. Thus, we conclude that this patient is having hypertriglyceridaemia thalassaemia syndrome (HTS) which is a rare disorder with unknown pathogenesis. Further research may be required to explore this unknown association.
METHODOLOGY: In this cross-sectional study, the samples were collected according to a non-random sampling method. Blood samples were collected from students and employees of Kabul University. The study included 166 males and 125 females, aged 18-45 years. The selection and exclusion of participants were carried out according to a questionnaire and the assessment of serum ferritin and vitamin B12 levels. Candidates with lower serum ferritin and vitamin B12, a history of chronic disease, females with menstruation or pregnancy, and those with chronic abdominal pain were excluded.
RESULTS: Reference ranges for all blood parameters were determined by a non-parametric method. The determined reference values were compared between males and females by the Z-test. Reference intervals for hemoglobin (4.5-6.3 g/dL for males and 3.66-5.67 g/dL for females) and hematocrit (36.23-55.93% for males and 30.20-53.86% for females) were significantly (p<0.05) higher in males. No significant (p<0.05) differences were observed between the reference intervals for the red blood cell count.
CONCLUSION: Therefore, we conclude that the commonly used reference intervals should be revised for the Afghan population, as our findings indicated higher reference values for the hemoglobin and hematocrit indices.
MATERIALS AND METHODS: This cross-sectional study included 113 T1DM children between 3 and 18 years old from the Universiti Teknologi MARA and the University of Malaya. Periodontal health parameters, including plaque index, gingival index, probing pocket depth, simplified basic periodontal examination, and clinical attachment loss, were recorded. Self-perceived periodontal health status was assessed with questionnaires.
STATISTICAL ANALYSIS: Statistical analysis was performed to evaluate the sensitivity of the questionnaire and the relationship between T1DM and periodontal parameters.
RESULTS: The median age was 11.4 years. Half of them (50.4%) were females. A total of 83.5% rated their oral condition as good, whereas 27.5% reported a history of gingival bleeding. Clinical examination revealed that 48.7% had healthy gingiva, whereas 47.8% had gingivitis. The question "Do you have bleeding when brushing, flossing, or eating food?" showed good accuracy in the evaluation of PD (p