Cerebrotendinous xanthomatosis (CTX) is caused by defects in sterol 27-hydroxylase (CYP27A1, encoded CYP27A1), a key enzyme the bile acid synthesis pathway. CTX usually presents as neurologic disease adults or older children. The rare reports of manifest neonatal cholestasis assess transient, with patient survival. Our experience differs.Homozygous compound heterozygous CYP27A1 mutations were detected 8 patients whole exome sequencing, panel Sanger sequencing. Their clinical and biochemical...

Alagille syndrome is an autosomal dominant disorder that results from defects in the Notch signaling pathway, which most frequently due to JAG1 mutations. This study investigated rate, spectrum, and origin of mutations 91 Chinese children presenting with at least two clinical features (cholestasis, heart murmur, skeletal abnormalities, ocular characteristic facial features, renal abnormalities). Direct sequencing and/or multiplex-ligation-dependent probe amplification were performed these...

Maturity-onset diabetes of the young (MODY) is most common monogenic diabetes. The aim this study was to assess prevalence MODY in phenotypic type 2 (T2DM) among Chinese adults.From April 2015 October 2017, cross-sectional involved 2429 consecutive patients from 46 hospitals China, newly diagnosed between 15 years and 45 years, with T2DM phenotype negative for standardized glutamic acid decarboxylase antibody at core laboratory. Sequencing using a custom gene panel performed, variants 14...

Wilson's disease (WD) is an inherited characterized by copper metabolism disorder caused mutations in the adenosine triphosphatase transporting β gene (ATP7B). Currently, WD cell and animal model targeting most common R778L mutation Asia lacking. In addition, mechanisms which hepatocytes resist toxicity remain to be further elucidated. this study, we aimed construct a novel with dissected molecular basics of resistance. A HepG2 line stably expressing ATP7B (R778L cell) was constructed. The...

Abstract Background Placenta accreta spectrum (PAS) is an ongoing major iatrogenic public health challenge with devastating obstetric complications, but its underlying molecular pathogenesis remains poorly illuminated. LAMC2 reported to regulate tumor cells proliferation and invasion, yet has not been explored in placenta trophoblast cells. This study investigated expression contribution the etiology of PAS. Methods Quantitative polymerase chain reaction, western blot, immunohistochemistry...

Wavy-finned arrangement and nanofluid medium are applied to a heat sink for the purpose of achieving more efficient thermal hydraulic performance. Laminar forced convection Al2O3/ethylene glycol–water in 3D wavy channel is considered. Computational Fluid Dynamics (CFD) simulations conducted wide spectrum nanoparticle volume concentrations (0.2% 0.3% 0.4% 0.5% 1% 2% 3% 4%) with Reynolds number varying between 400 1 200. Wavy channels proved dramatically improve transfer performance compared...

Abstract Intracranial stents are becoming increasingly a useful option in the treatment of intracranial aneurysms (IAs). Image simulation releasing stent configuration together with computational fluid dynamics (CFD) prior to intervention will help surgeons optimize scheme. This paper proposed fast virtual stenting IAs based on active contour model (ACM) which was able virtually release within any patient-specific shaped vessel and aneurysm models built real medical image data. In this...

Aldo-keto reductase 1D1 (AKR1D1 ) deficiency, a rare but life-threatening form of bile acid has not been previously described in China.Here, we describe the first two primary ∆4-3-oxosteroid 5β-reductase deficiency patients Mainland China diagnosed by fast atom bombardment-mass spectroscopy urinary acids and confirmed genetic analysis.A high proportion atypical 3-oxo-∆4-bile urine indicated 5β-reductase.All coding exons adjacent intronic sequence AKR1D1 gene were sequenced using peripheral...

Familial glucocorticoid deficiency type 1 (FGD1) is an autosomal recessive disorder caused by mutations in melanocortin 2 receptor (MC2R) gene, characterized low or undetectable serum cortisol level and high adrenocorticotropic hormone (ACTH) level. Clinical manifestations include hypoglycemia, seizure, skin hyperpigmentation, hyperbilirubinemia, cholestasis,and tall stature. Some dysmorphic features such as, prominent forehead, hypertelorism, broad nasal bridge, small tapering fingers, have...

Background Acute liver failure (ALF) can be a primary presentation of Wilson disease (WD). Mortality rates are high in WD with ALF (WDALF). Predictions mortality WDALF vary by model and sometimes contradictory, perhaps because few patients studied or diagnoses questionable. Aim To determine the outcomes among well-documented assess performance this cohort. Methods We reviewed medical records our pediatric (n = 41 over 6-years-old, single-center retrospective study) compared seven prognostic...

Abstract Background The potential association of long‐term oral corticosteroid (OCS) use with adverse events (AEs) in patients bullous pemphigoid (BP) is not well characterized a real‐world setting. Objectives To evaluate the effect OCS and treatment duration on incident AEs BP. Methods This retrospective cohort study used medical pharmacy claims patient enrollment data from IQVIA PharMetrics® Plus 2006−2021. Eligible had diagnosis BP between 1 January 2006 30 June 2020 (≥2 for ≥ days...

Diabetic nephropathy (DN) is the most common microvascular complication of diabetes and one major causes end-stage renal disease (ESRD). Cilostazol, an antiplatelet drug, plays important role in prevention treatment chronic complications through a series mechanisms, including anti-inflammation, inhibition vascular smooth muscle proliferation, protection nerve cells, regulation blood lipids. In this study, we observed effects cilostazol on serum soluble cell adhesion molecule-1 (sICAM-1)...

Abstract Pernicious placenta previa with percreta (PP) is a catastrophic condition during pregnancy. However, the underlying pathogenesis remains unclear. In present study, placental tissues of normal cases and PP pernicious were collected to determine expression profile protein‐coding genes, miRNAs, lncRNAs through sequencing. Weighted gene co‐expression network analysis (WGCNA), accompanied by miRNA target prediction correlation analysis, employed select potential hub genes lncRNAs. The...

Pernicious placenta previa complicated by accreta spectrum (PAS) often leads to hysterectomy or even maternal death due massive bleeding. In recent years, the application of balloons has received increasing attention. It is easier use and reasonably good effect. However, for some patients, especially those who still have placental residue, there might be active To solve this problem, we propose a method pressure sutures around balloon provide better hemostasis effect.An observational study...

BACKGROUNDDisorders of primary bile acid synthesis may be life-threatening if undiagnosed, or not treated with replacement therapy.To date, there are few reports on the management and follow-up patients Δ4-3-oxosteroid 5βreductase (AKR1D1) deficiency.We hypothesized that a retrospective analysis responses to oral therapy chenodeoxycholic (CDCA) in this disorder will increase our understanding disease progression permit evaluation treatment regimen as an alternative Food Drug Administration...

To investigate the diagnostic utility of immunohistochemistry for paired-like homeobox 2B (PHOX2B) expression in neuroblastomas (NBs) and tumors that mimic them, tissue samples (n = 229) from 157 cases NB, 210 central nervous system tumors, 170 extracranial non-NB solid 170) were immunostained PHOX2B. Additionally, PHOX2B 67 body fluid cytology specimens was analyzed. In specimens, positive NBs, pheochromocytomas, paragangliomas but negative all other evaluated. detected by 5 NB specimens;...