Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort

The underlying cause of the multiple congenital anomalies/mental retardation syndrome Kabuki syndrome (KS, OMIM 147920) has not yet been established. We identified seven patients who fulfilled the classical clinical criteria for this syndrome and undertook a detailed clinical, ophthalomological and molecular cytogenetic review. Three of the seven patients had previously undetected ocular anomalies including myopia, ptosis, strabismus and tilted discs. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of KS patients. Using BAC fluorescence in situ hybridisation, there was no evidence of the duplication of 8p recently reported by Milunsky and Huang. We conclude that the cause of KS has yet to be established.     

Statistics review 9: one-way analysis of variance

This review introduces one-way analysis of variance, which is a method of testing differences between more than two groups or treatments. Multiple comparison procedures and orthogonal contrasts are described as methods for identifying specific differences between pairs of treatments.     

SHOX mutations in a family and a fetus with Langer mesomelic dwarfism

Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) are caused by mutations in the SHOX gene. LWD results from haploinsufficiency and is dominantly inherited, while the more severe LMD results from the homozygous loss of SHOX. We describe a family and fetus with two SHOX mutations. Several relatives carry an approximately 200 kb interstitial deletion that includes the whole SHOX gene. Their condition is mild, with no Madelung deformity, and was originally diagnosed as hypochondroplasia (HCH). This deletion was also transmitted to a female fetus. However, unlike her carrier relatives, the ultrasound scan of the fetus and subsequent autopsy were consistent with LMD. The fetus inherited an additional Xp deletion (Xpter-Xp22.12) that also included the SHOX gene from her chromosomally normal father. This represents a unique molecular condition for LMD: the fetus is a compound heterozygote with two independent deletions, one inherited and one arising from a de novo event.     

Epidural and subarachnoidal pneumocephalus after epidural technique.

Iatrogenic pneumocephalus is an uncommon complication observed after using the 'loss-of-resistance' technique with an air filled syringe. We report and review two cases of pneumocephalus: one subarachnoid and the other epidural.     

Statistics review 12: survival analysis

This review introduces methods of analyzing data arising from studies where the response variable is the length of time taken to reach a certain end-point, often death. The Kaplan-Meier methods, log rank test and Cox's proportional hazards model are described.     

CT diagnosis of coronary artery aneurysms

Most coronary artery aneurysms are caused by either atherosclerosis or Kawasaki Disease. These lesions can potentially rupture or cause thromboembolic complications. Traditionally, coronary artery aneurysms are diagnosed by conventional coronary angiography. However, as CT coronary artery angiography has been shown to be useful in the visualisation of the larger blood vessels, this imaging modality may well replace conventional angiography as the investigation of choice in the diagnosis of coronary artery aneurysms. Indeed, we present an example where CT coronary angiography has proved useful in the characterisation of the disease.     

Induction of HIV-1 subtype B and AE-specific neutralizing antibodies in mice and macaques with DNA prime and recombinant gp140 protein boost regimens

We developed highly expressing clade B and AE DNA and envelope protein (Env) vaccines for evaluation in mice and macaques as DNA prime/protein boost regimens. High levels of Env-specific antibodies were induced in mice, albeit with limited neutralizing activity in vitro. A combined clade B and AE regimen induced high titer Env-specific antibody in two pigtail macaques that neutralized several strains of HIV-1. However, upon mucosal challenge with SHIV_SF162P3 no protection from infection was observed. Although the vaccines tested provide a platform for inducing robust humoral immunity, further refinements to broaden coverage against divergent strains and induce mucosal immunity are needed.