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Ipilimumab plus nivolumab (Ipi/Nivo) has revolutionized advanced renal cell carcinoma (RCC) treatment. However, it encompassed fatal immune-related adverse events (irAEs). Myocarditis with concomitant myasthenia gravis (MG) has a mortality rate of 50%, and a high dose of methylprednisolone (mPSL) should be administered with careful attention to MG exacerbation. We present the case of a 59-year-old man with progressing lung metastasis of RCC. After one cycle of Ipi/Nivo, he experienced myocarditis and MG, managed by mPSL pulse therapy, plasma exchange, and high-dose intravenous immunoglobulin. We share the therapeutic course, aiming to contribute to the limited literature on rare but aggressive irAEs.The patient was a 45-year-old male who initially presented with a left hydrocele. During radiographic work-up, a 26 cm right retroperitoneal lipoma was incidentally discovered. Despite a recommendation for preoperative radiation therapy followed by surgery from the sarcoma multispecialty team, the patient opted for surgery alone, in the hopes of avoiding damage or loss of his right kidney. Following surgical excision of the 39 cm well-differentiated liposarcoma, with removal of the perinephric fat adjacent to the tumor thereby preserving the kidney, he was discharged home after two nights in the hospital. Follow-up imaging eight months later showed no recurrence.Leiomyosarcoma of the scrotum is a rare tumor. Johnson H Jr in 1987 reported first case. Only 39 cases been reported in the literature. A 74 years old Indian gentleman presented with progressive painless right testicular swelling for 3 months. On examination, a firm right testicular mass. We proceeded with right scrotal exploration with excision of the right scrotal mass. Histopathology showed scrotum leiomyosarcoma. We would like to discuss the rarity of presentation, dilemma of diagnosis and managing in a district hospital. We advocate wide local excision with clear margin of 2 cm which give good overall survival benefits.Diagnosis of a 9-month-old boy brought to our genetics clinic with chief complaints of developmental delay (DD), failure to thrive, microcephaly, trunk hypotonia and hypertonia of the extremities. Multiple congenital defects but no significant syndromes or diseases were impressed. The chromosomal analysis and array comparative genomic hybridization (aCGH) revealed no significant pathogenic changes. Whole Genome Sequencing (WGS) identified a p.Glu1139fs de novo mutation of the KAT6A gene. The patient's phenotype was consistent clinically with Arboleda-Tham syndrome (ARTHS). Reviewing the literature showed that this is the first patient in Taiwan detected by WGS and that it involves a novel mutation. Comparing the highly variable clinical presentations of this syndrome with our patient, this boy's features and severe developmental defects seem to be due to a late-truncating mutation at the carboxyl end of the KAT6A protein. Our study demonstrates the power of WGS to confirm a diagnosis within 4 weeks for this rare condition.The rapid progress achieved in the development of many biopharmaceuticals had a tremendous impact on the therapy of many metabolic/genetic disorders. This type of fruitful approach, called protein replacement therapy (PRT), aimed to either replace the deficient or malfunctional protein in human tissues that act either in plasma membrane or via a specific cell surface receptor. However, there are also many metabolic/genetic disorders attributed to either deficient or malfunctional proteins acting intracellularly. The recent developments of Protein Transduction Domain (PTD) technology offer new opportunities by allowing the intracellular delivery of recombinant proteins of a given therapeutic interest into different subcellular sites and organelles, such as mitochondria and other entities. Towards this pathway, we applied successfully PTD Technology as a protein therapeutic approach, in vitro, in SCO2 deficient primary fibroblasts, derived from patient with mutations in human SCO2 gene, responsible for fatal, infantile cardioencephalomyopathy and cytochrome c oxidase deficiency. https://www.selleckchem.com/products/gsk-j4-hcl.html In this work, we radiolabeled the recombinant TAT-L-Sco2 fusion protein with technetium-99 m to assess its in vivo biodistribution and fate, by increasing the sensitivity of detection of even low levels of the transduced recombinant protein. The biodistribution pattern of [99mTc]Tc-TAT-L-Sco2 in mice demonstrated fast blood clearance, significant hepatobiliary and renal clearance. In addition, western blot analysis detected the recombinant TAT-L-Sco2 protein in the isolated mitochondria of several mouse tissues, including heart, muscle and brain. These results pave the way to further consider this PTD-mediated Protein Therapy Approach as a potentially alternative treatment of genetic/metabolic disorders.Rabies remains endemic in China and continues to pose a major threat to public health with a nearly 100 % case fatality rate in humans. We confirmed a case of human rabies in Wuhan, in May 2018. The patient had got a dog bite wound 3 years before symptoms of confusion, hydrophobia, and photophobia onset. On May 14, our laboratory confirmed that the patient was infected with a rabies virus that circulates in dogs in China and died on May 24, two weeks later after admission. Complete glycoprotein gene sequences determined for this isolate indicated the source of a RABV infection was dog-related RABV variants.By providing complementary functional information, photoacoustic (PA) breast imaging based on the handheld ultrasound (US) probe has demonstrated promising potential for breast cancer diagnosis. However, the quantitative PA imaging primarily relies on the knowledge of the optical fluence distribution in the three-dimensional (3D) heterogeneous breast tissue. Previous studies based on the handheld system generally provided two-dimensional (2D) B-scan results, which contains limited anatomical information of the tissue and the lesion. This study proposed a method to perform 3D modeling of the photon transportation for dual-modality PA/US system based on the local 3D breast anatomical information by scanning US probe. Then the calculated optical fluence distribution can be used for PA imaging. Our phantom and clinical pilot study results demonstrated that this method has potential to improve the accuracy of the quantitative PA breast imaging, and it can also be used in other clinical implementations.
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