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Proteus Syndrome: A Rare Disease Of Disproportionate And Asymmetric Overgrowth Of Connective Tissue.Journal of Ayub Medical College,... 2023Proteus syndrome is a rare disease manifested by progressive segmental overgrowth involving the skeletal, Cutaneous, subcutaneous, and nervous systems. We report the...
Proteus syndrome is a rare disease manifested by progressive segmental overgrowth involving the skeletal, Cutaneous, subcutaneous, and nervous systems. We report the case of a 24-year-old female who was born with no obvious abnormality at birth. From the age of 1 year, she developed asymmetric enlargement of her left upper limb and bilateral lower limbs leading to enlargement of the right-hand phalanges with radial deviation, enlargement of the right big toe, lateral deviation of left foot, and discrepancy in the length of lower extremities and kyphoscoliosis. She had become bed-bound for the last few years due to increasing disability. She was diagnosed with Proteus syndrome based on clinical features of progressive course, mosaic distribution, and sporadic occurrence of the lesions.
Topics: Humans; Infant, Newborn; Female; Young Adult; Adult; Proteus Syndrome; Rare Diseases; Hypertrophy; Lower Extremity; Connective Tissue
PubMed: 36849404
DOI: 10.55519/JAMC-01-11210 -
Clinical Case Reports Feb 2023Proteus syndrome (PS) is a rare syndrome characterized by asymmetric limb overgrowth, vascular malformation, and hamartomas. In this study we report a case of PS in a...
Proteus syndrome (PS) is a rare syndrome characterized by asymmetric limb overgrowth, vascular malformation, and hamartomas. In this study we report a case of PS in a 13-year-old girl with chief complaint of a new cutaneous lesion that was diagnosed and treated as leishmaniasis.
PubMed: 36789301
DOI: 10.1002/ccr3.6929 -
Anais Brasileiros de Dermatologia 2023
Topics: Humans; Proteus Syndrome; Limb Deformities, Congenital; Fingers; Hypertrophy; Skin Diseases; Vascular Malformations
PubMed: 36754650
DOI: 10.1016/j.abd.2021.11.012 -
Disease Models & Mechanisms Feb 2023Somatic mutations occur frequently and can arise during embryogenesis, resulting in the formation of a patchwork of mutant clones. Such mosaicism has been implicated in...
Somatic mutations occur frequently and can arise during embryogenesis, resulting in the formation of a patchwork of mutant clones. Such mosaicism has been implicated in a broad range of developmental anomalies; however, their etiology is poorly understood. Patients carrying a common somatic oncogenic mutation in either PIK3CA or AKT1 can present with disproportionally large digits or limbs. How mutant clones, carrying an oncogenic mutation that often drives unchecked proliferation, can lead to controlled and coordinated overgrowth is unknown. We use zebrafish to explore the growth dynamics of oncogenic clones during development. Here, in a subset of clones, we observed a local increase in proportion of the fin skeleton closely resembling overgrowth phenotypes in patients. We unravel the cellular and developmental mechanisms of these overgrowths, and pinpoint the cell type and timing of clonal expansion. Coordinated overgrowth is associated with rapid clone expansion during early pre-chondrogenic phase of bone development, inducing a heterochronic shift that drives the change in bone size. Our study details how development integrates and translates growth potential of oncogenic clones, thereby shaping the phenotypic consequences of somatic mutations.
Topics: Animals; Mutation; Zebrafish; Phenotype; Mosaicism; Clone Cells
PubMed: 36621776
DOI: 10.1242/dmm.049793 -
Journal of Medical Virology Feb 2023Emerging evidence suggests the oral and upper respiratory microbiota may play important roles in modulating host immune responses to viral infection. As the host...
Emerging evidence suggests the oral and upper respiratory microbiota may play important roles in modulating host immune responses to viral infection. As the host microbiome may be involved in the pathophysiology of coronavirus disease 2019 (COVID-19), we investigated associations between the oral and nasopharyngeal microbiome and COVID-19 severity. We collected saliva (n = 78) and nasopharyngeal swab (n = 66) samples from a COVID-19 cohort and characterized the microbiomes using 16S ribosomal RNA gene sequencing. We also examined associations between the salivary and nasopharyngeal microbiome and age, COVID-19 symptoms, and blood cytokines. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection status, but not COVID-19 severity, was associated with community-level differences in the oral and nasopharyngeal microbiomes. Salivary and nasopharyngeal microbiome alpha diversity negatively correlated with age and were associated with fever and diarrhea. Oral Bifidobacterium, Lactobacillus, and Solobacterium were depleted in patients with severe COVID-19. Nasopharyngeal Paracoccus was depleted while nasopharyngeal Proteus, Cupravidus, and Lactobacillus were increased in patients with severe COVID-19. Further analysis revealed that the abundance of oral Bifidobacterium was negatively associated with plasma concentrations of known COVID-19 biomarkers interleukin 17F and monocyte chemoattractant protein-1. Our results suggest COVID-19 disease severity is associated with the relative abundance of certain bacterial taxa.
Topics: Humans; COVID-19; SARS-CoV-2; Microbiota; Nasopharynx; Patient Acuity
PubMed: 36583481
DOI: 10.1002/jmv.28445 -
Gut Microbes 2023Irritable bowel syndrome (IBS) is a heterogeneous condition with multifactorial pathogenesis. We studied deeply phenotyped individuals with microbiota sequencing...
Irritable bowel syndrome (IBS) is a heterogeneous condition with multifactorial pathogenesis. We studied deeply phenotyped individuals with microbiota sequencing enrolled in the American Gut Project. The IBS subjects were matched by age, gender, body mass index, geography, and dietary patterns with non-IBS controls. A total of 942 subjects with IBS-Diarrhea (IBS-D), IBS-Constipation (IBS-C), unclassified IBS (IBS-U), and 942 non-IBS controls were included. We compared taxonomic and functional composition of gut microbiota based on 16S sequencing data and linked them with clinical characteristics and dietary factors. Subjects with IBS-D or IBS-U but not IBS-C showed significantly reduced bacterial diversity (Shannon; p < .01). Distinct bacterial signatures were associated with different IBS subtypes, and the related functional changes were related to IBS pathogenesis, such as the increased hydrogen sulfide production pathway in IBS-D and the increased palmitoleate biosynthesis pathway in IBS-C. IBS subjects with depression showed lower abundance of and higher abundance of than those without depression. The relative abundance of microbial short-chain fatty acid production pathways was significantly lower in IBS patients with depression than those without depression in all three subtypes. Female, younger age in IBS-D, and older age in IBS-C were associated with more severe microbiota dysbiosis, and distinct dietary factors had significant effects on the gut microbiota in different IBS subtypes. Our analysis identified the compositional uniqueness of gut microbiota in different IBS subtypes. Distinct associations of the gut microbiota with depression in IBS provide insights into shared pathways in disease pathogenesis. These findings highlight the importance of personalized gut microbiome modulation approaches in different subtypes for optimal therapeutic effects.
Topics: Humans; Female; Irritable Bowel Syndrome; Gastrointestinal Microbiome; Diarrhea; Constipation; Dysbiosis; Bacteria; Feces
PubMed: 36573834
DOI: 10.1080/19490976.2022.2157697 -
Turkish Journal of Anaesthesiology and... Dec 2022
PubMed: 36511499
DOI: 10.5152/TJAR.2021.21149 -
Cureus Oct 2022A benign soft tissue tumor of mature fat cells is called a lipoma (adipocytes). Lipoma can develop anywhere on the body, although it is uncommon in the mouth. Lipomas...
A benign soft tissue tumor of mature fat cells is called a lipoma (adipocytes). Lipoma can develop anywhere on the body, although it is uncommon in the mouth. Lipomas that are superficially positioned are often yellowish in color, painless, soft, and non-fluctuating with a thin epithelial surface. As a result, a delicate pattern of blood vessels is frequently seen on the surface. Deeper lesions might not exhibit this finding and, as a result, are not as clinically recognized. Since the patients do not report any subjective clinical symptoms, the dentist often diagnoses such lipomas by accident. Deep-seated lipomas require specialist imaging procedures, such as contrast-enhanced computed tomography, magnetic resonance imaging, or ultrasound to determine their extent. Lipomas can range in size from tiny to large to enormous. Large lipomas typically feature a "slip sign" and a nodular surface. Giant-sized lipomas can have a diameter of up to 10 cm. Lipomas can be single or multicellular. Dercum's disease, Proteus syndrome, neurofibromatosis, and familial adenomatosis polyposis all exhibit lipomas in various locations. The preferred course of treatment for these oral lipomas is surgical removal. Such lipomas do not recur again. Lipoma comes in a number of tiny varieties. The traditional description is of a well-defined tumor made up of lobules of uniformly sized and shaped mature fat cells. The term "fibrolipoma" refers to lipomas that contain a sizable amount of fibrous connective tissue, "angiolipoma" refers to lipomas that contain numerous tiny blood vessels, "myxolipoma" refers to lipomas with a background of myxoid cells, and "spindle cell lipoma" refers to lipomas that contain a mixture of uniform spindle cells. When compared to a pleomorphic liposarcoma, the pleomorphic lipoma exhibits spindle cells and strange, hyperchromatic large cells, making it challenging for the pathologist to tell them apart. An intramuscular lipoma is a lipoma that invades skeletal muscle bundles. Because they are harder to entirely eradicate, intramuscular lipomas are more likely to reoccur.
PubMed: 36381711
DOI: 10.7759/cureus.30260 -
Cureus Sep 2022Body overgrowth may be generalized or may affect certain areas. We present a seven-year-old African male with progressive, asymmetric, postnatal overgrowth of the left...
Body overgrowth may be generalized or may affect certain areas. We present a seven-year-old African male with progressive, asymmetric, postnatal overgrowth of the left side of his face and left upper limb. The impression of proteus syndrome (PS) was made based on established clinical diagnostic criteria presented in the literature. Our objective is to highlight the diagnosis based on clinical features, investigations, and a multidisciplinary approach to the management of proteus syndrome.
PubMed: 36324351
DOI: 10.7759/cureus.29761