TASK DEFINITION: Given a passage classify if the passage has a definite objective/aim/goal or not. Output '1' if the passage has a defininte objective/aim/goal and output '0' if the passage does not have a definite objective/aim/goal.
PROBLEM: This study aimed at (1) comparing the prevalence of generalized hypermobility in patients with chronic fatigue syndrome (CFS) and healthy volunteers, (2) examining the clinical importance of generalized hypermobility in patients with CFS, and (3) examining whether knee proprioception is associated with hypermobility in patients with CFS.', 'Sixty-eight patients with CFS filled out two self-reported measures (for the assessment of symptom severity and disability), were questioned about muscle and joint pain, and were screened for generalized hypermobility. Afterward, the patients performed a knee repositioning test (assessment of knee proprioception), and it was examined whether or not they fulfilled the criteria for benign joint hypermobility syndrome (BJHS). Sixty-nine age- and sex-matched healthy volunteers were screened for generalized joint hypermobility and performed the same knee repositioning test.', 'Compared with the healthy volunteers (4.3%, 3/68), significantly more patients with CFS (20.6%, 14/69) fulfilled the criteria for generalized joint hypermobility (Fisher exact test, P < .004). No associations were found between generalized joint hypermobility and the self-reported measures (including pain severity) or knee proprioception (Spearman correlation analysis). Knee proprioception was similar in both groups (Mann-Whitney U = 1961, z = -1.745, P = .81). Forty patients with CFS (58.8%) fulfilled the criteria for BJHS.

SOLUTION: 1

PROBLEM: We previously localized protease-activated receptor 2 (PAR-2) on human spermatozoa and demonstrated that activation of PAR-2 by the mast cell (MC) product tryptase inhibits sperm motility. Importantly, tryptase-secreting MCs are encountered in the male and female genital tract, implying that MC-spermatozoa interactions may be as yet unrecognized factors affecting sperm fertilizing ability. In order to elucidate how tryptase via activation of PAR-2 acts in human spermatozoa, we studied intracellular signal transduction events.', 'Impairment of sperm motility by tryptase was not dependent on the presence of extracellular Ca2+ and tryptase did not alter intracellular Ca2+ levels. Pre-incubation with pertussis toxin (PTX) failed to prevent tryptase effects on sperm motility. Western blot analyses revealed that tryptase increased phosphorylation of the mitogen-activated protein kinases (MAPK) ERK1/2, an effect which was blocked by the MAPK pathway inhibitor PD98059. Pre-treatment of spermatozoa with this inhibitor also blocked the inhibtion of sperm motility evoked by tryptase.

SOLUTION: 0

PROBLEM: Central core disease is a congenital myopathy, characterized by presence of central core-like areas in muscle fibers. Patients have mild or moderate weakness, hypotonia and motor developmental delay. The disease is caused by mutations in the human ryanodine receptor gene (RYR1), which encodes a calcium-release channel. Since the RYR1 gene is huge, containing 106 exons, mutation screening has been limited to three 'hot spots', with particular attention to the C-terminal region. Recent next-generation sequencing methods are now identifying multiple numbers of variants in patients, in which interpretation and phenotype prevision is difficult.", "In a Brazilian Caucasian family, clinical, histopathological and molecular analysis identified a new case of central core disease in a 48-year female. Sanger sequencing of the C-terminal region of the RYR1 gene identified two different missense mutations: c.14256 A >C polymorphism in exon 98 and c.14693 T >C in exon 102, which have already been described as pathogenic. Trans-position of the 2 mutations was confirmed because patient's daughter, mother and sister carried only the exon 98's mutation, a synonymous variant that was subsequently found in the frequency of 013-0,05 of alleles. Further next generation sequencing study of the whole RYR1 gene in the patient revealed the presence of additional 5 common silent polymorphisms in homozygosis and 8 polymorphisms in heterozygosis.

SOLUTION:
0