A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder-hypertriglyceridemia.

The completion of the Human Genome Project and tremendous advances in automated high-throughput genetic analysis technologies have enabled explosive progress in the field of genetics, which resulted in countless discoveries of novel genes and pathways. Many phenotype- or disease-associated single nucleotide polymorphisms (SNPs) with a high statistical significance have been identified through numerous genome-wide association studies (GWAS), and various polygenic risk scoring (PRS) schemes have been proposed to identify individuals with a high risk for a certain trait or disorder. Meanwhile, medical education in genetics has lagged far behind, leaving many physicians and healthcare providers unprepared in the genomic era.

Estimated Atherosclerotic Cardiovascular Disease Risk Score: An Automated Decision Aid for Statin Therapy.

Background: Estimation of atherosclerotic cardiovascular disease (ASCVD) risk is a key step in cardiovascular disease (CVD) prevention, but it requires entering additional risk factor information into a computer. We developed a simplified ASCVD risk score that can be automatically calculated by the clinical laboratory when a fasting standard lipid panel is reported.

Methods: Equations for an estimated ASCVD (eASCVD) risk score were developed for 4 race/sex groups (non-Hispanic White/Black, men/women), using the following variables: total cholesterol, high-density lipoprotein cholesterol, triglycerides, and age.

Rare Diagnosis of Familial Partial Lipodystrophy in a Patient With Life-Threatening Pancreatitis due to Hypertriglyceridemia.

Background: Familial partial lipodystrophy type 2 (FPLD2) is a rare genetic condition characterized by partial lack of subcutaneous tissue and can predispose an individual to complications such as hypertriglyceridemia with pancreatitis, insulin resistance, and diabetes. This report describes a case of FPLD2 identified with judicious history and examination.

Case Report: This case describes a 32-year-old patient with recurrent pancreatitis who developed complications requiring multiple surgeries, fistulas, ostomy, and parenteral feeding.

Successful Nutritional Intervention for an Infant with Abetalipoproteinemia: A Novel Modular Formula (AbetaMF).

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[Multimodal therapy improved carcinoid syndrome secondary to liver metastases of an atypical lung carcinoid tumor:a case report].

A 69-year-old male presented for an annual medical examination, and his chest X-ray showed an abnormal shadow. He presented to our hospital, and was diagnosed with typical carcinoid tumor of the lung by bronchoscopy. We recommended surgery, however the patient did not agree to the operation.

Experimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare Homozygous Mutation.

Background: Among many causes of hypertriglyceridemia (HTG), familial chylomicronemia syndrome (FCS) is a rare monogenic disorder that manifests as severe HTG and acute pancreatitis. Among the known causal genes for FCS, mutations in only account for <2% of cases. Medical nutrition therapy is critical for FCS because usual triglyceride- (TG-) lowering medications are ineffective.

Jiadifenolide induces the expression of cellular communication network factor (CCN) genes, and CCN2 exhibits neurotrophic activity in neuronal precursor cells derived from human induced pluripotent stem cells.

Jiadifenolide has been reported to have neurotrophin-like activity in primary rat cortical neurons, and also possesses neurotrophic effects in neuronal precursor cells derived from human induced pluripotent stem cells (hiPSCs), as we have previously reported. However, the molecular mechanisms by which jiadifenolide exerts its neurotrophic effects in rat and human neurons are unknown. Thus, we aimed to investigate the molecular mechanisms and pathways by which jiadifenolide promotes neurotrophic effects.

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.

Background: Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome (APS). Five of the 31 previously reported patients with APS harbored a recurrent de novo heterozygous LMNA p.T10I mutation.

Apolipoprotein C-II: New findings related to genetics, biochemistry, and role in triglyceride metabolism.

Apolipoprotein C-II (apoC-II) is a small exchangeable apolipoprotein found on triglyceride-rich lipoproteins (TRL), such as chylomicrons (CM) and very low-density lipoproteins (VLDL), and on high-density lipoproteins (HDL), particularly during fasting. ApoC-II plays a critical role in TRL metabolism by acting as a cofactor of lipoprotein lipase (LPL), the main enzyme that hydrolyses plasma triglycerides (TG) on TRL. Here, we present an overview of the role of apoC-II in TG metabolism, emphasizing recent novel findings regarding its transcriptional regulation and biochemistry.

A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis.

Context: Familial chylomicronemia syndrome (FCS) is a rare heritable disorder associated with severe hypertriglyceridemia and recurrent pancreatitis. Lipoprotein lipase deficiency and apolipoprotein C-II deficiency are two well-characterized autosomal recessive causes of FCS, and three other genes have been described to cause FCS. Because therapeutic approaches can vary according to the underlying etiology, it is important to establish the molecular etiology of FCS.

Novel Pretreatment Scoring Incorporating C-reactive Protein to Predict Overall Survival in Advanced Hepatocellular Carcinoma with Sorafenib Treatment.

Objectives: This study aimed to build a prediction score of prognosis for patients with advanced hepatocellular carcinoma (HCC) after sorafenib treatment.

Methods: A total of 165 patients with advanced HCC who were treated with sorafenib were analyzed. Readily available baseline factors were used to establish a scoring system for the prediction of survival.

Pretreatment Gastric Lavage Reduces Postoperative Bleeding after Endoscopic Submucosal Dissection for Gastric Neoplasms.

Aim: For patients receiving endoscopic submucosal dissection (ESD), there is urgent need pertaining to the prevention of postoperative bleeding. We conducted a retrospective propensity score-matched study that evaluated whether pre-ESD gastric lavage prevents postoperative bleeding after ESD for gastric neoplasms.

Methods: From September 2002 to October 2015, the 760 consecutive patients receiving ESD for gastric neoplasm were enrolled and data regarding them were retrospectively analyzed.

CD47-dependent molecular mechanisms of blood outgrowth endothelial cell attachment on cholesterol-modified polyurethane.

We previously showed that blood outgrowth endothelial cells (BOECs) had a high affinity for polyurethane (PU) covalently configured with cholesterol residues (PU-Chol). However, the molecular mechanisms responsible for this enhanced affinity were not determined. CD47, a multifunctional transmembrane glycoprotein involved in cellular attachment, can form a cholesterol-dependent complex with integrin alpha(v)beta(3) and heterotrimeric G proteins.

Prevention of polyurethane oxidative degradation with phenolic antioxidants covalently attached to the hard segments: structure-function relationships.

Oxidative degradation of the polyurethane elastomeric (PU) components greatly reduces the efficacy of PU-containing cardiovascular devices. Covalently appending the phenol-based antioxidant, 4-substituted 2,6-di-tert-butylphenol (DBP), to PU hard segments effectively reduced oxidative degradation of the PU in vivo and in vitro in prior studies by our group. In these experiments, we analyze the contribution of the tethering molecule to the antioxidant capabilities of the DBP-modified PU.

Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation.

Cystinosis, an autosomal recessive disorder of lysosomal cystine accumulation, results from mutations in the CTNS gene that encodes the lysosomal cystine transporter, cystinosin. Renal tubular Fanconi syndrome occurs in infancy, followed by rickets, growth retardation, photophobia, and renal failure, which requires renal transplantation at approximately 10 yr of age. Treatment with cysteamine decreases cellular cystine levels, retards renal deterioration, and allows for normal growth.

Long-term follow-up of well-treated nephropathic cystinosis patients.

We report the excellent clinical outcomes of siblings with nephropathic cystinosis treated diligently with cysteamine starting at 20 months and 2 months of age. Now 15 and 8 years old, they have glomerular filtration rates of 78 and 105 mL/min/1.73m 2 , respectively.