HEPATITIS C VIRUS AND ESSENTIAL MIXED CRYOGLOBULINAEMIA

Clinical and laboratory evidence of liver involvement are frequentlyfound in essential mixed cryoglobulinaemia (EMC). We lookedfor evidence of hepatitis C virus (HCV) infection in 37 patientswith EMC. Anti-HCV antibodies (Ab) were found in 16/37 (43%)patients with EMC using the ELISA 2 test and the RIBA 2 test.The 16 anti-HCV-Ab positive patients (group 1) were comparedto the 21 anti-HCV-Ab negative patients (group 2). Group 1 patientshad more frequent cutaneous involvement (P = 0.02), clinical,biological and histologic hepatic involvement (P<0.01), higherserum cryoglobulin and lower CH50 levels (P<0.001). Serumhepatitis B virus markers were infrequent in both groups andno patient from either group had detectable serum HBV DNA. Thesepreliminary results suggest that HCV may be another cause ofmixed cryoglobulinaemia. KEY WORDS: Hepatitis C virus, Cryoglobulinaemia     

DOMINANTLY INHERITED JUVENILE OPTIC ATROPHY

Until recently, the separate existence and nature of the juvenile form of dominantly inherited optic atrophy have been generally overlooked. Yet the condition has a characteristic clinical picture. Individual features of this clinical picture, but in no instance all of them, are common to other diseases, especially tobacco-alcohol amblyopia and glaucoma. Theoretical assessment of the site of the basic lesion is frustrated by contradictions between the known facts. The condition is common, and is one of which all optometrists should be aware.     

Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations

International Journal of Paediatric Dentistry 2010; 20: 305–312 Background. Kallmann syndrome (KS) is a rare genetic disorder characterised by central hypogonadism with a lack of sense of smell and in some cases renal aplasia, deafness, syndactyly, cleft lip/palate, and dental agenesis. To date, five genes for KS have been identified: KAL1, located on the X chromosome, and FGFR1, PROKR2, PROK2 and FGF8, which are involved in autosomally transmitted forms of KS. Aim. The study characterised the dental ageneses of individuals with KS associated with mutations in the FGFR1 gene. Design. Six individuals displaying dental agenesis were included. Clinical and radiological dental evaluations as well as medical anamneses were carried out. Results. Microdontia, screwdriver‐shaped mandibular incisors, thin molar roots, and patterns of dental agenesis in both dentitions were observed. One to nine teeth were missing, most frequently, in descending order, lateral mandibular incisors, second premolars of upper and lower jaws, and lateral maxillary incisors. The pattern of dental agenesis is associated with four new mutations in the FGFR1 gene. Conclusion: Dental agenesis may be a clinical feature of Kallmann syndrome caused by a mutation in the FGFR1 gene. These findings highlight the role that odontologists can play in the early diagnosis and treatment of gonadotropic deficiency.     

High Resolution Computed Tomography in the Evaluation of Glomus Tumours of the Petrous Temporal Bone.

Recent advances in surgery have made it possible to resect virtually all glomus tumours involving the petrous temporal bone. The surgical approach depends on the extent of the tumour and the degree of involvement of the intrapetrous portion of the internal carotid artery. High resolution computed tomography offers an accurate means of staging these tumours and of distinguishing them from an aberrant internal carotid artery. The CT scans of eighteen patients thought clinically to have glomus tumours of the temporal bone were reviewed. The final diagnoses in our series included twelve glomus turnours, three aberrant internal carotid arteries, two carcinoid tumours and one meningioma.