Humans ; Liver Diseases ; complications ; diagnosis ; Metabolic Syndrome ; complications ; diagnosis

Bone Diseases, Metabolic ; diagnosis ; etiology ; therapy ; Chronic Disease ; Humans ; Liver Diseases ; complications ; diagnosis ; therapy

Child ; Female ; Forecasting ; Humans ; Mass Screening ; Metabolic Diseases ; diagnosis ; etiology ; Pediatrics ; trends ; Pregnancy ; Prenatal Diagnosis

PURPOSE: We developed a new workflow design which included results from both biochemical and targeted gene sequencing analysis interpreted comprehensively. We then conducted a pilot study to evaluate the benefit of this new approach in newborn screening (NBS) and demonstrated the efficiency of this workflow in detecting causative genetic variants. MATERIALS AND METHODS: Ten patients in Group 1 were diagnosed clinically using biochemical assays only, and 10 newborns in Group 2 were diagnosed with suspected inherited metabolic disease (IMD) in NBS. We applied NewbornDiscovery (SD Genomics), an integrated workflow design that encompasses analyte-phenotype-gene, single nucleotide variant/small insertion and deletion/copy number variation analyses along with clinical interpretation of genetic variants related to each participant's condition. RESULTS: A molecular genetic diagnosis was established in 95% (19/20) of individuals. In Group 1, 13 and 7 of 20 alleles were classified as pathogenic and likely pathogenic, respectively. In Group 2, 11 and 6 of 17 alleles with identified causative variants were pathogenic and likely pathogenic, respectively. There were no variants of uncertain significance. For each individual, the NewbornDiscovery and biochemical analysis results reached 100% concordance, since the single newborn testing negative for causative genetic variant in Group 2 showed a benign clinical course. CONCLUSION: This integrated diagnostic workflow resulted in a high yield. This approach not only enabled early confirmation of specific IMD, but also detected conditions not included in the current NBS.
Alleles ; Diagnosis ; Diagnosis, Differential* ; Humans ; Infant, Newborn* ; Mass Screening* ; Metabolic Diseases* ; Molecular Biology ; Pilot Projects

INTRODUCTIONRadiologists may encounter bilaterally symmetrical abnormalities of the basal ganglia on magnetic resonance imaging (MRI), typically in the context of diffuse systemic, toxic or metabolic diseases. A systematic approach and broad knowledge of pathology causing this uncommon group of conditions would be useful.

MATERIALS AND METHODSThis review uses illustrative images to highlight metabolic conditions, such as Leigh's syndrome, citrullinaemia, hypoglycaemia or carbon monoxide poisoning, as well as other causes of bilateral basal ganglia lesions such as osmotic myelinolysis, deep cerebral venous thrombosis and Creutzfeldt-Jakob disease.

RESULTSCareful assessment of radiological findings outside the basal ganglia, such as involvement of the cortex, white matter, thalamus and pons, together with clinical correlation, may be helpful in narrowing the differential diagnosis, and directing further radiological, biochemical or genetic investigations. Recent advances in MR technology have resulted in newer techniques including diffusion-weighted (DW) MR imaging and MR spectroscopy (MRS); these may be helpful if appropriately used.

CONCLUSIONSAbnormal MRI findings in the basal ganglia should not be interpreted in isolation. A systematic approach including DW MR imaging, MRS, and a broad knowledge of diffuse systemic, toxic or metabolic diseases is helpful.

Basal Ganglia Diseases ; diagnosis ; diagnostic imaging ; physiopathology ; Brain Diseases, Metabolic ; diagnosis ; diagnostic imaging ; Diagnosis, Differential ; Humans ; Magnetic Resonance Imaging ; Radiography

Microvesicles (MVs, also known as microparticles) are small vesicles that originate from plasma membrane of almost all eukaryotic cells during apoptosis or activation. MVs can serve as extracellular vehicles to transport bioactive molecules from their parental cells to recipient target cells, thereby serving as novel mediators for intercellular communication. Importantly, more and more evidence indicates that MVs could play important roles in early pathogenesis and subsequent progression of cardiovascular and metabolic diseases. Elevated plasma concentrations of MVs, originating from red blood cells, leukocytes, platelets, or other organs and tissues, have been reported in various cardiometabolic diseases. Circulating MVs could serve as potential biomarkers for disease diagnosis or therapeutic monitoring. In this review, we summarized recently-published studies in the field and discussed the role of MVs in the pathogenesis of cardiometabolic diseases. The emerging values of MVs that serve as biomarker for non-invasive diagnosis and prognosis, as well as their roles as novel therapeutic targets in cardiometabolic diseases, were also described.
Biomarkers ; metabolism ; Cardiovascular Diseases ; blood ; diagnosis ; therapy ; Cell Communication ; Cell-Derived Microparticles ; metabolism ; Humans ; Metabolic Diseases ; blood ; diagnosis ; therapy

Follow-up is a crucial step for the screening of neonatal genetic and metabolic diseases, which can directly influence the detection, diagnosis, efficacy of treatment, as well as the quality of neonatal screening. In view of the lack of follow-up, full understanding, and inconsistent requirement between various agencies and personnel in China, there is an urgent need for standardization. The Committee for Proficiency Testing of the Neonatal Genetic Metabolic Disease Screening Center of the National Health Committee of China has organized the writing of expert consensus for follow-up of neonatal genetic and metabolic disease screening after thorough discussion, so as to guide the follow-up work and improve its quality.
China ; Consensus ; Follow-Up Studies ; Genetic Diseases, Inborn ; diagnosis ; Humans ; Infant, Newborn ; Metabolic Diseases ; diagnosis ; genetics ; Neonatal Screening

Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.
Child* ; Developmental Disabilities ; Diagnosis ; Humans ; Metabolic Diseases ; Metabolism ; Neuroimaging ; Neurologic Examination ; Phenotype ; Risk Factors

INTRODUCTION: Bone mineral density (BMD) is an important index in diagnosis of osteoporosis and other metabolic bone diseases, prediction of fractures, and monitoring treatment. This study was to find a more feasible technique for prediction of osteoporotic fracture between dual energy X-ray absorptiometry (DXA) and quantitative computed tomography (QCT) and to reveal the actual change of bone strength when BMD was changed. METHODS: Ten of these 20 specimens were used as the demineralized group and the other 10 as the control. Each specimen was immersed in HCl solution at for a period of at least 10 minutes, up to 100 minutes, at an interval of 10 minutes for different levels of demineralization. BMD was measured using DXA and QCT. Uniaxial compression tests were conducted to measure biomechanical parameters. Pearson correlation analysis was used respectively between BMD and biomechanical parameters and between DXA and QCT. RESULTS: Elastic modulus (r=0.87) and yield stress (r=0.84) showed a statistically significant correlation with DXA BMD. Through correlation analysis with QCT BMD and elastic modulus, correlation coefficient showed hemi-vertebra (r=0.80) and trabecular (r=0.68). In yield stress, there was a statistically significant correlation in hemi-vertebra (r=0.87) and trabecular bone (r=0.84). CONCLUSION: DXA is a current standard technique not only for diagnosis of osteoporosis but also for prediction of fracture risk compared to QCT. Actual decrease of bone strength was much greater than that of BMD by both DXA and QCT.
Absorptiometry, Photon* ; Biomechanical Phenomena ; Bone Density* ; Bone Diseases, Metabolic ; Diagnosis ; Elastic Modulus ; Osteoporosis ; Osteoporotic Fractures

Endoscopic retrograde cholangiopancreatography is widely used for diagnosis and treatment of pancreatobiliary diseases and associated with a spectrum of complications such as pancreatitis, hemorrhage, and so on. Endoscopic papillary balloon dilatation (EPBD) has an advantage over endoscopic sphincterotomy in complication of bleeding. We report here on a 68-year-old woman who developed metabolic encephalopathy due to massive bleeding after EPBD. Massive bleeding was controlled after selective embolization and metabolic encephalopathy was improved after conservative management. Metabolic encephalopathy due to massive bleeding after EPBD has not been reported. We report on this unusual case along with a review of the related literatures.
Aged ; Brain Diseases, Metabolic* ; Cholangiopancreatography, Endoscopic Retrograde ; Diagnosis ; Dilatation ; Female ; Hemorrhage* ; Humans ; Pancreatitis ; Sphincterotomy, Endoscopic