Inflammation induces insulin resistance and hyperinsulinemia due to elevation of serum cytokines such as tumor necrosis factor-α and interleukins. Chronic myeloproliferative diseases including myelofibrosis show high...Inflammation induces insulin resistance and hyperinsulinemia due to elevation of serum cytokines such as tumor necrosis factor-α and interleukins. Chronic myeloproliferative diseases including myelofibrosis show higher serum interleukin levels than healthy subjects, which has been suggested to be the useful markers for disease activity. However, an association between myelofibrosis and insulin resistance has not ever been discussed anywhere. Here we report a case of type 2 diabetes showing remarkable hyperinsulinemia and insulin resistance possibly due to myelofibrosis.展开更多
Background Langerhans cell histiocytosis(LCH)is a group of diseases characterized by the proliferation and accumulation of Langerhans cells.Clinical presentations of LCH vary widely.Data sources A PubMed search was co...Background Langerhans cell histiocytosis(LCH)is a group of diseases characterized by the proliferation and accumulation of Langerhans cells.Clinical presentations of LCH vary widely.Data sources A PubMed search was conducted using Clinical Queries with the key term "Langerhans cell histiocytosis".The search strategy included meta-analyses,randomized controlled trials,clinical trials,observational studies,and reviews.This paper is based on,but not limited to,the search results.Results Generally,patients with LCH can be divided into two groups based on the extent of involvement at diagnosis,namely,single-system LCH and multisystem LCH.The involvement may be unifocal or multifocal.Patients with isolated bone lesions typically present between 5 and 15 years of age,whereas those with multisystem LCH tend to present before 5 years of age.The clinical spectrum is broad,ranging from an asymptomatic isolated skin or bone lesion to a life-threatening multisystem condition.Clinical manifestations include,among others,"punched out" lytic bone lesion,seborrheic dermatitis-like erup-tion,erythematous/reddish-brown crusted/scaly papules/maculopapules/plaques/patches,and eczematous lesions,diabetes insipidus,hepatosplenomegaly,cytopenias,lymphadenopathy,and an acute fulminant disseminated multisystem condition presenting with fever,skin rash,anemia,thrombocytopenia,lymphadenopathy,and hepatosplenomegaly.The diagnosis is clinicopathologic,based on typical clinical findings and histologic/immunohistochemical examination of a biopsy of lesional tissue.Positive CD1a,S100,and/or CD207(Langerin)immunohistochemical staining of lesional cells is required for a definitive diagnosis.Watchful waiting is recommended for patients with skin-only LCH.Patients with symptomatic or refractory skin-only LCH may be treated with topical tacrolimus/corticosteroids,topical nitrogen mustard,oral methotrexate,or oral hydroxyurea.The current recommended first-line therapy for patients with multisystem LCH is 12 months therapy with prednisone and vinblastine.Mercaptopurine is added for patients with risk organ involvements.Conclusions Because of the broad spectrum of clinical manifestations and the extreme diversity of disease,LCH remains a diagnostic dilemma.Morphological identification of LCH cells and positive immunochemical staining with CD1a,S100,and/or CD207(Langerin)of lesional cells are necessary for a definitive diagnosis.展开更多
Type B Niemann-Pick disease is an autosomal recessive sphingolipidosis due to mutations in the sphingomyelin phosphodiesterase 1 gene （SMPD1）, Here we present molecular findings for two sibling patients. One mutatio...Type B Niemann-Pick disease is an autosomal recessive sphingolipidosis due to mutations in the sphingomyelin phosphodiesterase 1 gene （SMPD1）, Here we present molecular findings for two sibling patients. One mutation V36A due to c.107T〉C in exon 1 is a single nucleotide polymorphism and the other N522S due to c.1565 A〉G in exon 6 is a novel missense mutation. This non-fatal missense mutation leads to -20% residual lysosomal acid sphingomyelinase activity in vitro and only results in hepatosplenomegaly without neurologic involvement,展开更多
基金The Grant of National Center for Global Health and Medicine, No. 22-120
文摘Inflammation induces insulin resistance and hyperinsulinemia due to elevation of serum cytokines such as tumor necrosis factor-α and interleukins. Chronic myeloproliferative diseases including myelofibrosis show higher serum interleukin levels than healthy subjects, which has been suggested to be the useful markers for disease activity. However, an association between myelofibrosis and insulin resistance has not ever been discussed anywhere. Here we report a case of type 2 diabetes showing remarkable hyperinsulinemia and insulin resistance possibly due to myelofibrosis.
文摘Background Langerhans cell histiocytosis(LCH)is a group of diseases characterized by the proliferation and accumulation of Langerhans cells.Clinical presentations of LCH vary widely.Data sources A PubMed search was conducted using Clinical Queries with the key term "Langerhans cell histiocytosis".The search strategy included meta-analyses,randomized controlled trials,clinical trials,observational studies,and reviews.This paper is based on,but not limited to,the search results.Results Generally,patients with LCH can be divided into two groups based on the extent of involvement at diagnosis,namely,single-system LCH and multisystem LCH.The involvement may be unifocal or multifocal.Patients with isolated bone lesions typically present between 5 and 15 years of age,whereas those with multisystem LCH tend to present before 5 years of age.The clinical spectrum is broad,ranging from an asymptomatic isolated skin or bone lesion to a life-threatening multisystem condition.Clinical manifestations include,among others,"punched out" lytic bone lesion,seborrheic dermatitis-like erup-tion,erythematous/reddish-brown crusted/scaly papules/maculopapules/plaques/patches,and eczematous lesions,diabetes insipidus,hepatosplenomegaly,cytopenias,lymphadenopathy,and an acute fulminant disseminated multisystem condition presenting with fever,skin rash,anemia,thrombocytopenia,lymphadenopathy,and hepatosplenomegaly.The diagnosis is clinicopathologic,based on typical clinical findings and histologic/immunohistochemical examination of a biopsy of lesional tissue.Positive CD1a,S100,and/or CD207(Langerin)immunohistochemical staining of lesional cells is required for a definitive diagnosis.Watchful waiting is recommended for patients with skin-only LCH.Patients with symptomatic or refractory skin-only LCH may be treated with topical tacrolimus/corticosteroids,topical nitrogen mustard,oral methotrexate,or oral hydroxyurea.The current recommended first-line therapy for patients with multisystem LCH is 12 months therapy with prednisone and vinblastine.Mercaptopurine is added for patients with risk organ involvements.Conclusions Because of the broad spectrum of clinical manifestations and the extreme diversity of disease,LCH remains a diagnostic dilemma.Morphological identification of LCH cells and positive immunochemical staining with CD1a,S100,and/or CD207(Langerin)of lesional cells are necessary for a definitive diagnosis.
文摘Type B Niemann-Pick disease is an autosomal recessive sphingolipidosis due to mutations in the sphingomyelin phosphodiesterase 1 gene （SMPD1）, Here we present molecular findings for two sibling patients. One mutation V36A due to c.107T〉C in exon 1 is a single nucleotide polymorphism and the other N522S due to c.1565 A〉G in exon 6 is a novel missense mutation. This non-fatal missense mutation leads to -20% residual lysosomal acid sphingomyelinase activity in vitro and only results in hepatosplenomegaly without neurologic involvement,
