Recent studies of inherited disorders of phosphate metabolism have shed new light on the understanding of phosphate metabolism. Phosphate has important functions in the body and several mechanisms have evolved to regulate phosphate balance including vitamin D, parathyroid hormone and phosphatonins such as fibroblast growth factor-23 (FGF23). Disorders of phosphate homeostasis leading to hypo-and hyperphosphataemia are common and have clinical and biochemical consequences. Notably, recent studies have linked hyperphosphataemia with an increased risk of cardiovascular disease. This review outlines the recent advances in the understanding of phosphate homeostasis and describes the causes, investigation and management of hypo-and hyperphosphataemia.
Background Polycystic ovary syndrome (PCOS) is a common endocrinopathy affecting women of reproductive age. Common features include menstrual irregularities, hyperandrogenism and polycystic ovarian morphology although the presentation can be heterogeneous. Insulin resistance is thought to be responsible for the hormonal and metabolic derangements observed. PCOS has two phenotypes, overweight/obese and lean, the latter being a much less common presentation of the syndrome. Aims The aim of the present review is to summarise cardinal features, and to devise diagnostic and treatment algorithms for lean PCOS based on recent literature. Methods We searched PubMed, EBSCOhost and Google Scholar using search terms such as 'lean polycystic ovary syndrome' OR 'lean polycystic ovarian syndrome' OR 'lean PCOS' OR 'lean polycystic ovary disease' OR 'lean polycystic ovarian disease' OR 'lean PCOD' OR 'hyperandrogenism' AND 'low BMI OR 'low body mass index' to identify potential articles to be included in the review. Citation searches were subsequently performed in order to find relevant literature. Results Hormonal, metabolic and haematological profiles were altered in lean women with PCOS compared to healthy counterparts. However, the derangements were either comparable or less obvious compared to obese women with the syndrome. Insulin resistance seemed inherent in PCOS independent of obesity. Treatment options included weight maintenance, restoration of ovulation with insulin-sensitizers such as metformin, relief of symptoms such as hirsutism, acne and menstrual dysfunction, and assisted reproductive technologies in refractory cases, all of which showed promising results. The literature with evidence on lean PCOS is of low to moderate quality and there are still some uncertainties in the evidence base. Conclusion Carefully designed randomised controlled trials are required to confirm findings of previous studies in lean PCOS and to consolidate diagnostic and management algorithms proposed in this review. This paper will aid health professionals to improve their clinical approach in managing lean women with PCOS.
Eighty to eighty-five percent of PPGLs arise from the adrenal medulla (pheochromocytomas; PCCs) and the remainder from the autonomic neural ganglia (paragangliomas; PGLs). Catecholamine excess causes chronic or paroxysmal hypertension associated with sweating, headaches and palpitations, the presenting features of PPGLs, and increases the cardiovascular morbidity and mortality. Genetic testing should be considered in all cases as mutations are reported in 35-40% of cases; 10-15% of PCCs and 20-50% of PGLs can be malignant. Measurements of plasma-free metanephrines or 24-h urine-fractionated metanephrines help biochemical diagnosis with high sensitivity and specificity. Initial anatomical localization after biochemical confirmation is usually with computed tomography (CT) or magnetic resonance imaging (MRI). Iodine metaiodobenzylguanidine (I-MIBG) scintigraphy, positron emission tomography (PET) or single-photon emission computed tomography (SPECT) is often performed for functional imaging and prognostication prior to curative or palliative surgery. Clinical and biochemical follow-up is recommended at least annually after complete tumour excision. Children, pregnant women and older people have higher morbidity and mortality risk. De-bulking surgery, chemotherapy, radiotherapy, radionuclide agents and ablation procedures are useful in the palliation of incurable disease. PPGLs are unique neuroendocrine tumours that form an important cause for endocrine hypertension. The diagnostic and therapeutic algorithms are updated in this comprehensive article.
Until vaccines and effective therapeutics become available, the practical solution to transit safely out of the current coronavirus disease 19 (CoVID-19) lockdown may include the implementation of an effective testing, tracing and tracking system. However, this requires a reliable and clinically validated diagnostic platform for the sensitive and specific identification of SARS-CoV-2. Here, we report on the development of a de novo, high-resolution and comparative genomics guided reverse-transcribed loop-mediated isothermal amplification (LAMP) assay. To further enhance the assay performance and to remove any subjectivity associated with operator interpretation of results, we engineered a novel hand-held smart diagnostic device. The robust diagnostic device was further furnished with automated image acquisition and processing algorithms and the collated data was processed through artificial intelligence (AI) pipelines to further reduce the assay run time and the subjectivity of the colorimetric LAMP detection. This advanced AI algorithm-implemented LAMP (ai-LAMP) assay, targeting the RNA-dependent RNA polymerase gene, showed high analytical sensitivity and specificity for SARS-CoV-2. A total of ~200 coronavirus disease (CoVID-19)-suspected NHS patient samples were tested using the platform and it was shown to be reliable, highly specific and significantly more sensitive than the current gold standard qRT-PCR. Therefore, this system could provide an efficient and cost-effective platform to detect SARS-CoV-2 in resource-limited laboratories.
Background The pneumatic tube system (PTS) has been implicated in inducing haemolysis. It is not known whether certain sample types are more susceptible to haemolysis than others. We assessed the level of haemolysis in commonly used sample types in the clinical biochemistry department when transported through the PTS.
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