Postprandial Metabolomic Profiling: Insights into Macronutrient-Specific Metabolic Responses in Healthy Individuals.

Background/objectives: Understanding the metabolic responses to different macronutrients is crucial for assessing their impacts on health. This study aims to investigate the postprandial metabolomic profiles of healthy individuals following the consumption of glucose, protein, and lipids.

Methods: Twenty-three healthy, normal-weight adults participated in the study, randomly assigned to consume 300 kcal from glucose, protein, or lipids after an overnight fast.

Predictive and prognostic value of excision repair cross-complementing group 1 in patients with advanced gastric cancer.

Background: To define the optimal chemotherapy regimen for each patient we therefore used tissue from patients to identify molecular prognostic or predictive biomarkers.

Methods: Endoscopic biopsy specimens from primary lesions and surgical specimens on a phase III trial in patients with unresectable advanced or recurrent gastric cancer treated with docetaxel with cisplatin plus S-1 (DCS) or cisplatin plus S-1 (CS), were collected. We measured the mRNA expression of ERCC1 and analyzed SNPs in GSTP1 and ERCC1.

A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.

Chromosome 4p16.3 microdeletions are known to cause Wolf-Hirschhorn syndrome (WHS), which is characterized by a distinct craniofacial gestalt and multiple congenital malformations. The 4p16.

Arab founder variants: Contributions to clinical genomics and precision medicine.

Background: Founder variants are ancestral variants shared by individuals who are not closely related. The large effect size of some of these variants in the context of Mendelian disorders offers numerous precision medicine opportunities.

Methods: Using one of the largest datasets on Mendelian disorders in the Middle East, we identified 2,908 medically relevant founder variants derived from 18,360 exomes and genomes and investigated their contribution to the clinical annotation of the human genome.

CHD2-related epilepsy with eyelid myoclonia: Report of three cases.

The aim of this study is to report three cases of epilepsy with eyelid myoclonia (EEM) with CHD2 pathogenic variants. A database of 134 patients with EEM evaluated at Mayo Clinic sites was searched to identify patients with CHD2 variants. The medical records of those identified were reviewed to describe their presentation, treatment, and clinical course.

Multiple Reaction Monitoring-Mass Spectrometric Immunoassay Analysis of Parathyroid Hormone Fragments with Vitamin D Deficiency in Patients with Diabetes Mellitus.

Current immunoassay techniques for analyzing clinically relevant parathyroid hormone (PTH) circulating fragments cannot distinguish microheterogeneity among structurally similar molecular species. This hinders the identification of molecular species and the capture of target analyte information. Since structural modifications are important in disease pathways, mass spectrometry can detect, identify, and quantify heterogeneous ligands captured by antibodies.

An exploratory study of perceptions and utilization of genetic information in the intended parent experience of oocyte donor selection.

Purpose: Utilization of oocyte donation has become an increasingly common practice in assisted reproductive technology (ART). Since the introduction of larger carrier screening (CS) panels and extended family medical histories (EFMH), studies have not examined how this information factors into the oocyte donor selection process. This exploratory, qualitative study provides further insight into what role, if any, donors' available genetic information (e.

SOS1-Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy-An Arrhythmia Phenotype?

Noonan syndrome (NS) is a predominantly autosomal dominant condition with various cardiac and extra-cardiac manifestations. Although it has been linked with atrial arrhythmias, ventricular arrhythmias are extremely rare in the absence of underlying structural cardiac abnormalities. We report an instance of aborted sudden cardiac arrest in a 7-year-old male with a confirmed SOS1 variant and a lack of evidence to support a structural cardiac, metabolic, or infectious etiology.

Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib: A Case Report.

Objectives: Pathogenic variants are known to cause autosomal recessive disease with a spectrum of systemic involvement. We sought to expand on the spectrum of variants and describe potential treatment.

Methods: We describe a case of newly diagnosed -related disorder, also known as H syndrome or familial histiocytosis, associated with CNS inflammatory pseudotumor and spinal cord compression.

N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts.

SRD5A3-CDG is a congenital disorder of glycosylation (CDG) resulting from pathogenic variants in SRD5A3 and follows an autosomal recessive inheritance pattern. The enzyme encoded by SRD5A3, polyprenal reductase, plays a crucial role in synthesizing lipid precursors essential for N-linked glycosylation. Despite insights from functional studies into its enzymatic function, there remains a gap in understanding global changes in patient cells.

Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of .

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors often linked to underlying genetic variants. Genetic analysis can promote gene-adjusted, specific follow-up, and surveillance protocols for both patients and their families at risk. We report the case of a 7-yr-old boy with bilateral pheochromocytoma, which recurred a year after partial adrenalectomy.

Metabolomic Effects of Liraglutide Therapy on the Plasma Metabolomic Profile of Patients with Obesity.

Background: Liraglutide, a long-acting glucagon-like peptide-1 receptor agonist (GLP1RA), is a well-established anti-diabetic drug, has also been approved for the treatment of obesity at a dose of 3 mg. There are a limited number of studies in the literature that have looked at changes in metabolite levels before and after liraglutide treatment in patients with obesity. To this end, in the present study we aimed to explore the changes in the plasma metabolomic profile, using liquid chromatography-high resolution mass spectrometry (LC-HRMS) in patients with obesity.

Association Between Social Vulnerability and Gastrointestinal Cancer Mortality in the United States Counties.

Background And Aims: Social determinants of health contribute to disparities in gastrointestinal (GI) cancer mortality between individuals in the US. Their effects on count-level mortality rates remain uncertain. We aimed to assess the association between county social vulnerability and GI cancer mortality.

Laparoscopic resection of liver PEComa associated with Li‑Fraumeni syndrome: A case report.

Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome associated with germline mutations in tumor suppressor gene . Perivascular epithelioid cell tumors (PEComas) are a group of tumors by the World Health Organization Classification as mesenchymal tumors composed of histologically and immunohistochemically distinctive PECs. The present study reports a rare case of PEComa associated with LFS.

Developing a scoring system for gene curation prioritization in lysosomal diseases.

Introduction: Diseases caused by lysosomal dysfunction often exhibit multisystemic involvement, resulting in substantial morbidity and mortality. Ensuring accurate diagnoses for individuals with lysosomal diseases (LD) is of great importance, especially with the increasing prominence of genetic testing as a primary diagnostic method. As the list of genes associated with LD continues to expand due to the use of more comprehensive tests such as exome and genome sequencing, it is imperative to understand the clinical validity of the genes, as well as identify appropriate genes for inclusion in multi-gene testing and sequencing panels.

Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBI.

Purpose: Inborn errors of metabolism (IEM) are known with poor long-term health concerns; however, the health-related quality of life (HRQoL) and the burden placed on families remain unclear. This study investigated the self- and proxy-reported HRQoL of pediatric patients with IEM with or without developmental disabilities and the burden placed on their caregivers.

Methods: Patients with IEM aged 8-15 years and their caregivers were asked to respond to the Pediatric Quality of Life Inventory (PedsQL), EuroQoL five-dimension questionnaire for younger populations (EQ-5D-Y), and Japanese version of the Zarit Caregiver Burden Interview (J-ZBI).