The Experts below are selected from a list of 2982 Experts worldwide ranked by ideXlab platform
Domenico Greco - One of the best experts on this subject based on the ideXlab platform.
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severe weight gain and Generalized insulin Edema after the starting of an insulin pump
Canadian Journal of Diabetes, 2015Co-Authors: Domenico GrecoAbstract:The possibility of the occurrence of a Generalized Edema after initiation or intensification of insulin treatment in patients with diabetes, although considered a rare event, has long been described in the literature. In this case, a state of clinically significant Edema, with a concurrent severe weight gain, occurred in a patient with type 1 diabetes in whom the implantation of an insulin pump resulted in a dramatic and abrupt improvement in glycemic control.
Eil-soo Lee - One of the best experts on this subject based on the ideXlab platform.
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Dermatomyositis associated with Generalized subcutaneous Edema and Evans syndrome.
Journal of the American Academy of Dermatology, 2012Co-Authors: Kyu Dong Jung, Pyoung Su Kim, Hae Young Park, Cho Rok Kim, Ji-yeon Byun, Joo Heung Lee, Jun-mo Yang, Eil-soo LeeAbstract:Although periorbital Edema is a common manifestation of dermatomyositis (DM), Generalized subcutaneous Edema associated with DM is extremely rare. Evans syndrome is an autoimmune disease in which an individual's antibodies attack one's own red blood cells and platelets. Evans syndrome is rarely a presenting feature of DM. DM has been rarely reported to be associated with either Generalized Edema or Evans syndrome. We report the case of a 52-year-old Korean woman who presented with Generalized subcutaneous Edema, an erythematous rash, dysphagia, and proximal muscle weakness, and subsequently developed features of Evans syndrome. Treatment with high-dose glucocorticoids and an immunosuppressive agent controlled the DM, the Generalized subcutaneous Edema, and the Evans syndrome.
Cheryl Rockmangreenberg - One of the best experts on this subject based on the ideXlab platform.
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a novel ccbe1 mutation leading to a mild form of hennekam syndrome case report and review of the literature
BMC Medical Genetics, 2015Co-Authors: Patrick Frosk, Bernard N Chodirker, Louise R Simard, Wael Elmatary, Ana Hanlondearman, Jeremy Schwartzentruber, Jacek Majewski, Cheryl RockmangreenbergAbstract:Background: Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of Generalized lymphatic dysplasia (ie. lymphEdema and lymphangiectasia), variable intellectual disability and characteristic dysmorphic features. The patient we describe here has a lymphatic dysplasia without intellectual disability or dysmorphism caused by mutation in CCBE1, highlighting the phenotypic variability that can be seen with abnormalities in this gene. Case presentation: Our patient is a 5 week old child of Pakistani descent who presented to our center with Generalized Edema, ascites, and hypoalbuminemia. She was diagnosed with a protein losing enteropathy secondary to segmental primary intestinal lymphangiectasia. As the Generalized Edema resolved, it became clear that she had mild persistent lymphEdema in her hands and feet. No other abnormalities were noted on examination and development was unremarkable at 27 months of age. Given the suspected genetic etiology and the consanguinity in the family, we used a combination of SNP genotyping and exome sequencing to identify the underlying cause of her disease. We identified several large stretches of homozygosity in the patient that allowed us to sort the variants found in the patient’s exome to identify p.C98W in CCBE1 as the likely pathogenic variant. Conclusions: CCBE1 mutation analysis should be considered in all patients with unexplained lymphatic dysplasia even without the other features of classic Hennekam syndrome.
Heather Jeffery - One of the best experts on this subject based on the ideXlab platform.
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ephb4 kinase inactivating mutations cause autosomal dominant lymphatic related hydrops fetalis
Journal of Clinical Investigation, 2016Co-Authors: Silvia Martinalmedina, Rita Holdhus, Elisavet Fotiou, Christian Gilissen, Kjell Petersen, Michael A Simpson, Ines Martinezcorral, Alexander Hoischen, Andres Vicente, Heather JefferyAbstract:Hydrops fetalis describes fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The majority of hydrops fetalis cases are nonimmune conditions that present with Generalized Edema of the fetus, and approximately 15% of these nonimmune cases result from a lymphatic abnormality. Here, we have identified an autosomal dominant, inherited form of lymphatic-related (nonimmune) hydrops fetalis (LRHF). Independent exome sequencing projects on 2 families with a history of in utero and neonatal deaths associated with nonimmune hydrops fetalis uncovered 2 heterozygous missense variants in the gene encoding Eph receptor B4 (EPHB4). Biochemical analysis determined that the mutant EPHB4 proteins are devoid of tyrosine kinase activity, indicating that loss of EPHB4 signaling contributes to LRHF pathogenesis. Further, inactivation of Ephb4 in lymphatic endothelial cells of developing mouse embryos led to defective lymphovenous valve formation and consequent subcutaneous Edema. Together, these findings identify EPHB4 as a critical regulator of early lymphatic vascular development and demonstrate that mutations in the gene can cause an autosomal dominant form of LRHF that is associated with a high mortality rate.
Yoshihiro Nishiyama - One of the best experts on this subject based on the ideXlab platform.
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^99mTc-HSA-DTPA Scintigraphy of Protein-Losing Gastroenteropathy Associated with Mixed Connective Tissue Disease Before and After Immunosuppressive Therapy
Nuclear Medicine and Molecular Imaging, 2021Co-Authors: Katsuya Mitamura, Takashi Norikane, Yuka Yamamoto, Kengo Fujimoto, Yasukage Takami, Mikiya Kato, Tomohiro Kameda, Hiroaki Dobashi, Yoshihiro NishiyamaAbstract:We present a female in her sixties with mixed connective tissue disease who underwent ^99mTc-human serum albumin diethylenetriaminepentaacetic acid (^99mTc-HSA-DTPA) scintigraphy to clarify the cause of Generalized Edema. Scintigraphy findings directed the diagnosis to protein-losing gastroenteropathy. Various disorders are known to be associated with protein-losing gastroenteropathy; however, mixed connective tissue disease is a rare cause. ^99mTc-HSA-DTPA scintigraphy is helpful in the diagnosis and following the response to therapy of protein-losing gastroenteropathy.