Familial hemophagocytic lymphohistiocytosis (FHL) is an often-fatal hyperinflammatory disorder caused by autosomal recessive mutations in PRF1, UNC13D, STX11, and STXBP2. We identified a homozygous STX11 mutation, c.173T > C (p.L58P), in three patients presenting clinically with hemophagocytic lymphohistiocytosis from unrelated Pakistani families. The mutation yields an amino acid substitution ...

Hemophagocytic lymphohistiocytosis (HLH) comprises familial (primary) hemophagocytic lymphohistiocytosis (FHL) and secondary HLH (SHLH), both clinically characterized by fever, hepatosplenomegaly, and cytopenia. FHL, an autosomal recessive disease invariably fatal when untreated, is associated with defective triggering of apoptosis and reduced cytotoxic activity, resulting in a widespread accum...

Natural killer (NK) cells from patients with familial hemophagocytic lymphohistiocytosis because of PRF1 (FHL2, n = 5) or MUNC13-4 (FHL3, n = 8) mutations were cultured in IL-2 prior to their use in various functional assays. Here, we report on the surface CD107a expression as a novel rapid tool for identification of patients with Munc13-4 defect. On target interaction and degranulation, FHL3 N...

Hemophagocytic lymphohistiocytosis (HLH) comprises familial (primary) hemophagocytic lymphohistiocytosis (FHL) and secondary HLH (SHLH), both clinically characterized by fever, hepatosplenomegaly, and cytopenia. FHL, an autosomal recessive disease invariably fatal when untreated, is associated with defective triggering of apoptosis and reduced cytotoxic activity, resulting in a widespread accum...

Background. BDNF and NT-4/5 have been proposed to be involved in the coordinated adaptations of the neuromuscular system to the elevated level of activity, but an activity-dependent expression of neurotrophins in skeletal muscle is not well established. Objectives. We, therefore, investigated the effect of one session of resistance exercise on mRNA expression of some neurotrophins in Slow and ...

phohistiocytosis in syntaxin-11 deficient mice: T-cell exhaustion limits fatal disease. essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Linkage of fa-milial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syn-taxin 11. A, et al. Munc18-2 deficiency causes familial hemoph...

A 56-year-old male was admitted to an outpatient clinic five months after feeling a snap in his right heel while walking the yard. Clinical and imaging evaluation demonstrated discontinuity of Achilles tendon (AT). The measured gap between insertion proximal stump 13cm. patient underwent reconstruction using bio-absorbable synthetic graft associated with Flexor Hallucis Longus (FHL) transfer. G...

BARNARD, R. JAMES, V. REGGIE EDGERTON, TETSUO FURUKAWA, AND J. B. PETER. Histochemical, biochemical, and contractile properties of red, white, and intermediate jibers. Am. J. Physiol. 220 (2) : 41 O-41 4. 197 1 .-Individual fibers from guinea pig muscles (soleus, flexor hallucis longus (FHL), flexor digitorium longus (FDL), medial gastrocnemius (MG) and the portion of the vastus lateralis (RV) ...

BACKGROUND Multiple intrinsic and extrinsic soft tissue structures that apply forces and support the medial longitudinal arch have been implicated in pes planus. These structures have common functions but their interaction in pes planus is not fully understood. The aim of this study was to compare the cross-sectional area (CSA) and thickness of the intrinsic and extrinsic foot muscles and plant...

The human facultative pathogenic yeast Candida albicans causes mucocutaneous infections and is the major cause of opportunistic fungal infections in immunocompromised patients. C. albicans activates both the alternative and classical pathway of the complement system. The aim of this study was to assay whether C. albicans binds human complement regulators in order to control complement activatio...