Craniosynostosis, the premature fusion of one or more cranial sutures, affects 1 in 2,500 live births. Isolated single-suture fusion is most prevalent, with sagittal synostosis occurring in 1/5,000 live births. The etiology of isolated (nonsyndromic) single-suture craniosynostosis is largely unknown. In syndromic craniosynostosis, there is a highly nonrandom pattern of causative autosomal dominant mutations involving TWIST1 and fibroblast growth factor receptors (FGFRs). Prior to our study, there were no published TWIST1 mutations in the anti-osteogenic C-terminus, recently coined the TWIST Box, which binds and inhibits RUNX2 transactivation. RUNX2 is the principal master switch for osteogenesis. We performed mutational analysis on 164 infants with isolated, single-suture craniosynostosis for mutations in TWIST1, the IgIIIa exon of FGFR1, the IgIIIa and IgIIIc exons of FGFR2, and the Pro250Arg site of FGFR3. We identified two patients with novel TWIST Box mutations: one with isolated sagittal synostosis and one with isolated coronal synostosis. Kress et al. [2006] reported a TWIST Box "nondisease-causing polymorphism" in a patient with isolated sagittal synostosis. However, compelling evidence suggests that their and our sequence alterations are pathogenic: (1) a mouse with a mutation of the same residue as our sagittal synostosis patient developed sagittal synostosis, (2) mutation of the same residue precluded TWIST1 interaction with RUNX2, (3) each mutation involved nonconservative amino acid substitutions in highly conserved residues across species, and (4) control chromosomes lacked TWIST Box sequence alterations. We suggest that genetic testing of patients with isolated sagittal or coronal synostosis should include TWIST1 mutational analysis.
A. Baseline characteristics, type of surgery and indications for video capsule endoscopy in patients with normal anatomy and surgically altered gastrointestinal anatomy (SAGIA) Variable Group SAGA Normal anatomy P value Hypothyroidism. (%) 18 (23.4) 23 16.5) 0.277 Scleroderma. (%) 3 (3.9) 1 (0.7) 0.131 Diabetes (%) 26 (33.8) 60 (43.2) 0.194 Parkinsonism. (%) 0 (0.0) 4 (2.9) 0.299 Indications for VCE Abdominal pain (%) 9 (11.7) 3 (2.2) 0.009 Concern for IBD (%) 2 (2.6) 1 (0.7) 0.29 Iron deficiency anemia (%) 23 (29.9) 33 (23.7) 0.335
The purpose of the study is to understand the employability of new immigrants’ youth studying in technical program in Taiwan. A national survey was conducted to explore the employability of new immigrants’ youth from the perspectives of teachers and students. A total of 1,500 questionnaires were distributed to students and 1,171 questionnaires were retrieved. Valid questionnaires totaled 1,098 and accounted for 73.20%; a total of 750 questionnaires were distributed to teachers and 544 questionnaires were retrieved. Valid questionnaires totaled 524 and accounted for 69.87%. The study found that new immigrants’ youth performed best in emotion control ability, followed by personal management ability; new immigrants’ youth performed worst in basic listening, speaking, reading and writing skills, followed by native language proficiency.
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