The authors evaluated the prevalence of right to left shunt in 40 subjects w ith cluster headache (CH) vs 40 subjects without primary headaches or cerebrovas cular disease. The diagnosis of shunt was made by means of ...The authors evaluated the prevalence of right to left shunt in 40 subjects w ith cluster headache (CH) vs 40 subjects without primary headaches or cerebrovas cular disease. The diagnosis of shunt was made by means of transcranial Doppler with contrast medium. A shunt was found in 17 CH patients (42.5%) and in 7 cont rols (17.5%) (p = 0.029; OR = 3.48; 95%CI = 1.13 to 10.69).展开更多
Purpose: To describe a case of corneal abscess caused by Fusarium solani that did not respond to common antifungal agents. Method: Case report. Results: Twent y days after accidental contact with vegetation, a 56-year...Purpose: To describe a case of corneal abscess caused by Fusarium solani that did not respond to common antifungal agents. Method: Case report. Results: Twent y days after accidental contact with vegetation, a 56-year-old man presented w ith a corneal abscess. Corneal ulceration developed and a perforating keratoplas ty was performed. After a microbiological examination, the diagnosis of F. solan i infection was made. Systemic and topical amphotericin B and fluconazole were p rescribed, with no results. A new abscess formed on the transplanted graft and a wound leak developed. We administered topical and systemic voriconazole. No sid e-effects were observed. The choroidal detachment and the surgical transplant r ecovered completely in 20 days. A vascular leukoma developed at the site of the transplanted corneal abscess. Conclusion: From a functional point of view, anoth er corneal transplant will be necessary. Voriconazole was effective in treating a severe keratomycosis caused by F. solani that was resistant to other topical a nd systemic antifungal agents.展开更多
Background: Mutations in a gene encoding a novel protein of unknown function the ganglioside induced differentia tion associated protein 1 gene (GDAP1) are associated with the autosomal recessive Charcot Marie Tooth d...Background: Mutations in a gene encoding a novel protein of unknown function the ganglioside induced differentia tion associated protein 1 gene (GDAP1) are associated with the autosomal recessive Charcot Marie Tooth disease type 4A (CMT4A). Objective: To investigate the role of GDAP1 mutations in causing au tosomal recessive neuropathies in an Italian population. Methods and results: 76 patients with severe early onset polyneuropathy and possible autosomal recessiv e inheritance were screened for mutations. A T > G transversion (c.347 T > G) at codon 116 (M116R) was detected in four affected subjects from three apparently unrelated families. All patients had early onset of disease with pronounced foot deformities and impaired walking. Neurophysiological studies showed an extremel y variable expression. Sural nerve biopsies revealed signs of both de remyelina tion and axonal impairment, the most prominent feature being a severe loss of la rger fibres. Haplotype analysis of the GDAP1 locus demonstrated a common disease haplotype. Conclusions: The association of the mutation with a common haplotype suggested a common ancestor.展开更多
文摘The authors evaluated the prevalence of right to left shunt in 40 subjects w ith cluster headache (CH) vs 40 subjects without primary headaches or cerebrovas cular disease. The diagnosis of shunt was made by means of transcranial Doppler with contrast medium. A shunt was found in 17 CH patients (42.5%) and in 7 cont rols (17.5%) (p = 0.029; OR = 3.48; 95%CI = 1.13 to 10.69).
文摘Purpose: To describe a case of corneal abscess caused by Fusarium solani that did not respond to common antifungal agents. Method: Case report. Results: Twent y days after accidental contact with vegetation, a 56-year-old man presented w ith a corneal abscess. Corneal ulceration developed and a perforating keratoplas ty was performed. After a microbiological examination, the diagnosis of F. solan i infection was made. Systemic and topical amphotericin B and fluconazole were p rescribed, with no results. A new abscess formed on the transplanted graft and a wound leak developed. We administered topical and systemic voriconazole. No sid e-effects were observed. The choroidal detachment and the surgical transplant r ecovered completely in 20 days. A vascular leukoma developed at the site of the transplanted corneal abscess. Conclusion: From a functional point of view, anoth er corneal transplant will be necessary. Voriconazole was effective in treating a severe keratomycosis caused by F. solani that was resistant to other topical a nd systemic antifungal agents.
文摘Background: Mutations in a gene encoding a novel protein of unknown function the ganglioside induced differentia tion associated protein 1 gene (GDAP1) are associated with the autosomal recessive Charcot Marie Tooth disease type 4A (CMT4A). Objective: To investigate the role of GDAP1 mutations in causing au tosomal recessive neuropathies in an Italian population. Methods and results: 76 patients with severe early onset polyneuropathy and possible autosomal recessiv e inheritance were screened for mutations. A T > G transversion (c.347 T > G) at codon 116 (M116R) was detected in four affected subjects from three apparently unrelated families. All patients had early onset of disease with pronounced foot deformities and impaired walking. Neurophysiological studies showed an extremel y variable expression. Sural nerve biopsies revealed signs of both de remyelina tion and axonal impairment, the most prominent feature being a severe loss of la rger fibres. Haplotype analysis of the GDAP1 locus demonstrated a common disease haplotype. Conclusions: The association of the mutation with a common haplotype suggested a common ancestor.
