Indian J Pediatr
Section of Pediatric Rheumatology, NH SRCC Children's Hospital, Worli, Mumbai, India.
Published: September 2024
Just under a decade ago, most children with genetic disorders received a phenotypic diagnosis, often by atlas matching. With advances in genomics (decoding of human genome, easy availability of genetic testing, and reduction in cost of tests), genotypic diagnosis is now a reality. Genetic diseases can lead to non-inflammatory arthritis that can mimic juvenile idiopathic arthritis (JIA). A small but growing number (as newer genes are discovered) of genetic diseases are being diagnosed in children with a seemingly inflammatory musculoskeletal diseases or connective tissue diseases. A high index of suspicion by the pediatrician is most important for early diagnosis of these genetic disorders. In a busy outpatient clinic, it is the atypical presentation of a disease in a child that suggests a possibility of underlying genetic autoinflammatory or autoimmune disease. Correct diagnosis helps the physician, child, parent, and community.
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http://dx.doi.org/10.1007/s12098-023-04845-w | DOI Listing |
Amino Acids
January 2025
Department of Nutrition, School of Public Health, Iran University of Medical Sciences, Tehran, Iran.
Recent studies have suggested that the interaction between diet and an individual's genetic predisposition can determine the likelihood of obesity and various metabolic disorders. The current study aimed to examine the association of dietary branched-chain amino acids(BCAAs) and aromatic amino acids(AAAs) with the expression of the leptin and FTO genes in the visceral and subcutaneous adipose tissues of individuals undergoing surgery. This cross-sectional study was conducted on 136 Iranian adults, both men and women, aged ≥18 years.
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Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
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January 2025
Department of Otolaryngology and Head and Neck Surgery, IRCSS AOU San Martino, University of Genoa, Largo Rosanna Benzi 10, 16132, Genoa, Italy.
Purpose: Immunoglobulin G4-related disease (IgG4-RD) is a complex systemic fibroinflammatory condition with different clinical manifestations affecting multiple organ systems. Despite its rarity, the disease presents diagnostic and therapeutic challenges due to its mimicry of malignancies and other immune-mediated disorders. The 2019 American College of Rheumatology/European League Against Rheumatism Classification Criteria for IgG4-Related Disease is the current state of art to confirm the diagnosis of IgG4-RD even in the absence of histological analysis.
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Medical Genetics Unit, University Hospital of Parma, Parma, Italy.
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Department of Neurology, RWTH Aachen University, Aachen, Germany.
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