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861.
A 75-year-old male presented with complaint of painless left inguinoscrotal mass slowly increasing in size since 9 years. Clinical impression was malignancy arising in left testis or cord. Initial incisional biopsy was reported as fibromatosis. Later on wide excision of tumor was done and histopathology showed dedifferentiated liposarcoma with areas of fibromatosis. 相似文献
862.
Mahesh Venkatachari Soumalya Chakraborty Alec Reginald Errol Correa Puneeta Mishra Kanwal Preet Kocchar Madhulika Kabra Biswaroop Chakrabarty Mani Kalaivani Savita Sapra Pallavi Mishra Sheffali Gulati Neerja Gupta 《American journal of medical genetics. Part A》2023,191(4):1038-1043
Gaucher disease (GD), one of the most frequent autosomal recessive lysosomal storage disorders, occurs due to bi-allelic pathogenic variants in the GBA1. Worldwide, the c.1448T>C (L483P) homozygous pathogenic variant is reported to be associated with neurological GD phenotype. Clinical distinction between GD1 and GD3 may be challenging due to subtle neurological features. Objective methods to evaluate neurological signs and saccades may help in early diagnosis. This study was conducted to assess the neurological phenotype, and its severity using a modified severity scoring tool (mSST), and the genotype–phenotype correlation. A total of 45 children aged 2 years 6 months to 15 years with a confirmed enzymatic and molecular diagnosis of GD with or without therapy were recruited. mSST tool was used to assess the severity of the neurological phenotype. A digital eye movement tracker (View Point Tracker) was used to assess eye movements. Clinical and genetic findings were analyzed. Out of 45 patients, 39 (86.7%) had at least one neurological phenotype detected using the mSST tool, with impairment of cognitive function (68.8%, 31/45) being the commonest feature. Thirty-two of 45 (71%) were assessed for saccadic eye movements using the eye tracker. Of these, 62.5% (20/32) had absent saccades. Four children (8.9%, 4/32) without clinical oculomotor apraxia had absent saccades on the viewpoint eye tracker. Overall, 77.7% (35/45), had homozygosity for c.1448T>C in GBA1 of which 91.4% (32/35) had neurological manifestations. Other alleles associated with neurological phenotype included c.1603C>T(p.R535C), c.1184C>T (p.S395F), c.115+1G>A (g.4234G>A), c.260G>A (p.R87Q) and c.1352A>G (p.Y451C). To conclude, in India, the c.1448T>C pathogenic variant in GBA1 is the commonest and is associated with neurological phenotype of GD. Therefore, every patient of GD should be assessed using the mSST scoring tool for an early pick up of neurological features. The routine use of a viewpoint eye tracker in children with GD would be useful for early recognition of saccadic abnormalities. 相似文献
863.
864.
Vicky Lee Ng Claire Dunphy Eyal Shemesh Steven Lobritto Elizabeth Eisenberg Claudia Pomponi Jonathan Szolna Dawn Wilkerson Nitika Gupta Rene Romero Emily R. Perito Frank DiPaola Regino P. Gonzalez-Peralta Evelyn Hsu Katelyn Saarela Saeed Mohammad Riccardo Superina Sherrie Logan Daniel W. Miller Cassandra Krise-Confair Nehal Swami George Mazariegos the Starzl Network 《Pediatric transplantation》2023,27(1):e14409
865.