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Evaluation of Pediatric Limb Deformities
Published in Nirmal Raj Gopinathan, Clinical Orthopedic Examination of a Child, 2021
General examination should focus on determining whether the deformity is part of a generalized skeletal disorder. As is the case with history-taking, the examination should be individualized, but the following points should be ascertained: Are there any features of skeletal dysplasias? Short stature, abnormal facies, disproportionate segmental measurements, etc. may be important pointers.Are there any features suggestive of metabolic disorders, for example, rickets? Chest wall abnormalities, hypotonia, problems with dentition, etc. may be noted.
Role of Tandem Mass Spectrometry in Diagnosis and Management of Inborn Errors of Metabolism
Published in P. Mereena Luke, K. R. Dhanya, Didier Rouxel, Nandakumar Kalarikkal, Sabu Thomas, Advanced Studies in Experimental and Clinical Medicine, 2021
Kannan Vaidyanathan, Sandhya Gopalakrishnan
Most of the metabolic disorders can lead to mental retardation and sometimes even death if untreated. The effects of toxic substances and their by-products increase, with time if the offending diet is not restricted or other suitable mechanisms for removing the offending and accumulating toxins are not taken. Hence, it is not unexpected that some disorders may be mild at onset, but with time deteriorate. Many metabolic disorders however have a very acute onset of clinical symptoms.
Spinal Cord Disease
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Metabolic disorder: SCD of the spinal cord.Mitochondrial encephalomyopathy.Abetalipoproteinemia (Bassen–Kornzweig disease).
FAM19A5/S1PR1 signaling pathway regulates the viability and proliferation of mantle cell lymphoma
Published in Journal of Receptors and Signal Transduction, 2022
Yanfang Wang, Zhenhao Zhang, Wei Wan, Yan Liu, Hongmei Jing, Fei Dong
FAM19A5 is a cytokine release from cell to affect intracellular events such as proliferation, growth, migration and survival [6,9,10]. It has been reported that FAM19A5 participates into the injury response of endothelial cells in diabetic patients [6]. Adipose-derived FAM19A5 promotes the regeneration of endothelial cells and enhances the proliferation of vascular smooth muscle, contributing to the improvement in the neointima formation [6]. During the formation of osteoclast, FAM19A5, which is identified as a brain-specific chemokine, has a role in regulating the osteoclastogenesis [7]. This finding has been reported to be a potential therapeutic target for the treatment of bone disorders. In patients with neuromyelitis optica spectrum disorder, the serum FAM19A5 has been used to predict the progression of neuromyelitis optica spectrum disorder through the correlation analysis [38]. Interestingly, recent studies have also showed the relationship between FAM19A5 upregulation and metabolic disorders such as alanine aminotransferase, fasting plasma glucose, glycated hemoglobin and mean brachial-ankle pulse wave velocity. Although the potential mechanism has not been fully understood, a new biomarker of metabolic disorder has been established in patients with obesity or diabetes [8]. In the present study, we observed the role of FAM19A5 in regulating cell viability and proliferation. Next experiments are necessary to figure out whether apoptosis-related proteins or genes as well as proliferation-related proteins or genes are under the control of FAM19A5.
Cost-effectiveness of baloxavir marboxil compared with laninamivir for the treatment of influenza in patients at high risk for complications in Japan
Published in Current Medical Research and Opinion, 2021
Mariia Dronova, Hidetoshi Ikeoka, Naoya Itsumura, Nobuo Hirotsu, Amir Ansaripour, Samuel Aballéa, Yoshie Onishi, Mark Hill, Ataru Igarashi
The following list of HRC was considered in line with the Centers for Disease Control and Prevention’s definition and phase III clinical trial of baloxavir3,8:Asthma or chronic lung disease.Endocrine disorders.Compromised immune system.Neurological and neurodevelopmental disorders.Heart disease (excluding hypertension).Blood disorders.Metabolic disorders.Morbid obesity.Women within 2 weeks postpartum – for patients aged <65 years only.Residents of long-term care facilities – for patients aged ≥65 years only.
Comorbidity patterns among people living with HIV: a hierarchical clustering approach through integrated electronic health records data in South Carolina
Published in AIDS Care, 2021
Xueying Yang, Jiajia Zhang, Shujie Chen, Sharon Weissman, Bankole Olatosi, Xiaoming Li
The hierarchical cluster analysis identified four comorbidity clusters from the 24 diagnosis groups. As shown in Figure 2, the four comorbidity clusters were: (1) “substance use and mental disorders” (6 diagnosis groups: alcohol use, tobacco use, anxiety, depression, psychiatric disorders, illicit drug use); (2) “metabolic disorders” (10 diagnosis groups: hypothyroidism, anemia, diabetes, dyslipidemia, cardiac disorders, hypertension, ulcer disease, chronic obstructive pulmonary disease [COPD], osteoporosis/osteoarthritis, chronic kidney disease); (3) “liver disease and cancer” (4 diagnosis groups: hepatitis B, chronic liver disease, hepatitis C, non-AIDS defining cancers); and (4) “cerebrovascular disease” (4 diagnosis groups: stroke, cerebral infarction, peripheral vascular disease, dementia). The concurrence (in %) of comorbidity clusters among all the PLWH were shown in Figure 3, with 11.50% of the patients being diagnosed only with substance use and mental disorders (cluster 1), 12.94% only with metabolic disorders (cluster 2), 0.52% only with liver diseases and cancer (cluster 3) and 0.09% only with cerebrovascular disease (cluster 4). In the meantime, the 2 most frequent concurrent dyads were: clusters 1 and 2 (22.56%) and clusters 2 and 3 (1.30%). The 2 most frequent concurrent triads were clusters 1, 2, and 3 (6.22%) and clusters 1, 2, and 4 (2.41%). The proportion of patients who were diagnosed with all four clusters was low (1.32%).