Perforin gene (PRF1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (FHL), an autosomal recessive disorder of infancy and early childhood that impairs or abolishes lymphocyte cytotoxicity. We report the first case of FHL in an adult patient homozygous for A91V in PRF1 with tuberculosis. The monozygotic twin of the patient is healthy. A91V con...

Borrelia hermsii, the primary etiological agent of tick-borne relapsing fever in North America, binds the complement regulatory protein factor H (FH) as a means of evading opsonophagocytosis and the alternative complement pathway. The ability of FH-binding protein A (FhbA) to bind FH-like protein 1 (FHL-1) has not been assessed previously. In this study, using a whole-cell absorption assay, we ...

Familial hemophagocytic lymphohistiocytosis (FHL) is a frequently missed and almost uniformly fatal childhood disorder. It is characterized by fever, hepatosplenomegaly, cytopenia, coagulopathy, and hypertriglyceridemia. The pathogenesis of FHL is not known but the above clinical and laboratory findings are compatible with reported in vitro and in vivo effects of several inflammatory cytokines....

The present study examined whether an abnormality in the myogenic response of renal arterioles that impairs autoregulation of renal blood flow (RBF) and glomerular capillary pressure (PGC) contributes to the development of renal damage in fawn-hooded hypertensive (FHH) rats. Autoregulation of whole kidney, cortical, and medullary blood flow and PGC were compared in young (12 wk old) FHH and faw...

The purpose of this study was to assess changes in the thickness of the retrocalcaneal bursa (RB) with respect to the ankle position with or without flexor hallucis longus (FHL) contraction. Forty feet of 20 female volunteers were examined. RB was sonographically scanned as the horizontal short-axis image of the posteromedial talar process and the calcaneal tuberosity. RB thickness was measured...

Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder in children that is characterized by persistent fever, splenomegaly with cytopenia, hypertriglyceridemia, and hypofibrinogenemia. Increased levels of various cytokines and soluble interleukin-2 receptor are biological markers of HLH. HLH can be classified into two major forms: primary and secondary. Familial hemophagocytic lymphohistio...

Antigenic variation allows pathogenic microorganisms to evade the immune system of the infected host. The variable structure must play an important role in pathogenesis, but its function is in most cases unknown. Here, we identify a function for the surface-exposed hypervariable region of streptococcal M5 protein, a virulence factor that inhibits phagocytosis. The hypervariable region of M5 was...

While patients with poor functional health literacy (FHL) have difficulties reading and comprehending written medical instructions, it is not known whether these patients also experience problems with other modes of communication, such as face-to-face encounters with primary care physicians. We enrolled 408 English- and Spanish-speaking diabetes patients to examine whether patients with inadequ...

Self-report of musculoskeletal conditions is often used to estimate population prevalence and to determine disease burden and influence policy. However, self-report of certain musculoskeletal conditions is frequently inaccurate, suggesting inadequate communication to the patient of their diagnosis. The aim of this study is to determine the association between functional health literacy (FHL) an...