Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young‐onset diabetes with exome sequencing

Activating mutations in the ABCC8 gene cause diabetes and inactivating mutations usually cause hyperinsulinemic hypoglycemia in infancy. Patients with hypoglycemia in infancy due to a heterozygous inactivating mutation have been reported to occasionally progress to diabetes later in life. We explored the gene responsible for diabetes in two brothers, who were suspected to have diabetes at 15 and 18 years‐of‐age, respectively, with whole exome sequencing, and identified a compound heterozygous ABCC8 gene mutation (p.Arg168Cys and p.Arg1421Cys). Although their father and mother were heterozygous carriers of the p.Arg168Cys and the p.Arg1421Cys mutation, respectively, neither parent had diabetes. These mutations have been reported to be responsible for hypoglycemia in infancy and function as an inactivating mutation. Our results suggest that the inactivating ABCC8 gene mutation is also important in the etiology of diabetes.     

Wound,pressure ulcer and burn guidelines – 4: Guidelines for the management of connective tissue disease/vasculitis-associated skin ulcers

The Japanese Dermatological Association prepared guidelines focused on the treatment of skin ulcers associated with connective tissue disease/vasculitis practical in clinical settings of dermatological care. Skin ulcers associated with connective tissue diseases or vasculitis occur on the background of a wide variety of diseases including, typically, systemic sclerosis but also systemic lupus erythematosus (SLE), dermatomyositis, rheumatoid arthritis (RA), various vasculitides and antiphospholipid antibody syndrome (APS). Therefore, in preparing the present guidelines, we considered diagnostic/therapeutic approaches appropriate for each of these disorders to be necessary and developed algorithms and clinical questions for systemic sclerosis, SLE, dermatomyositis, RA, vasculitis and APS.     

Intralymphatic histiocytosis comprises M2 macrophages in superficial dermal lymphatics with or without smooth muscles

Intralymphatic histiocytosis represents a rare reactive disorder, which is characterized by the accumulation of macrophages within lymphatic vessels and observed predominantly in upper extremities. The infiltration and preferential M2 differentiation of macrophage are observed in chronic lymphedema, and lymphedema is considered a causative factor of intralymphatic histiocytosis. However, what causes accumulation of histiocytes in the lymphatic vessels remains unclear, and investigation regarding the characteristics of the macrophages has not been evaluated. We present a case of intralymphatic histiocytosis, in which immunohistochemical staining for both macrophages and lymphatic vessels was performed to evaluate the nature of macrophages within lymphatic vessels and to determine the causative factor. Aggregated macrophages were shown to be M2 macrophages positive for CD68, CD163 and CD206 but negative for inducible nitric oxide synthase. Thick lymphatic vessels positive for D2‐40 and α‐SMA in the superficial dermis were observed. We speculate that chronic lymphedema leads to hypertrophy of lymphatic vessels with smooth muscle in the superficial dermis, which may be a kind of malformation, and these lymphatic vessels produce some chemokines that induce intralymphatic aggregation of macrophages.     

Postoperative development of sarcopenia is a strong predictor of a poor prognosis in patients with adenocarcinoma of the esophagogastric junction and upper gastric cancer

Background

There were few studies assessed the postoperative sarcopenia in patients with cancers. The objective of present study was to assess whether postoperative development of sarcopenia could predict a poor prognosis in patients with adenocarcinoma of esophagogastric junction, (AEG) and upper gastric cancer (UGC).