Incidence and morphological study of zygomaticofacial and zygomatico-orbital foramina in dry adult human skulls: the non-metrical variants.

Morphological diversity in the form of multiple zygomaticofacial (ZF) foramina was studied in 165 dry, unsexed adult human skulls. Zygomatic bones revealed variation in the number of foramina on their orbital and facial aspects. These were absent in 72 (21.8%) sides. A single ZF foramen was seen in 148 (44.9%) sides. Two ZF foramina were found in 92 (27.9%) sides, out of which 29 (8.8%) sides had one zygomatico-orbital (ZO) foramen, while 63 (19.1%) sides had two ZO foramina. Three ZF foramina, a relatively uncommon occurrence, were found in 17 (5.1%) sides, which included eight (2.4%) sides with one less and nine (2.7%) sides with the same number of ZO foramina. Four ZF foramina were seen in one (0.3%) side with three on the orbital aspect, a feature not reported before. The zygomatic nerve may be disrupted on elevating periorbita from the lateral wall during orbital surgery, and care should be taken to prevent injury to the nerve during the lateral orbitotomy approach to access intraorbital soft tissue tumors.

CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms.

Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder that results from the expansion of a cryptic CAG repeat within the exon 1 of the SCA2 gene. The CAG repeat in normal individuals varies in length from 14 to 31 repeats and is frequently interrupted by one or more CAA triplets, whereas the expanded alleles contain a pure uninterrupted stretch of 34 to 59 CAG repeats. We have previously reported the presence of a limited pool of 'ancestral' or 'at risk' haplotypes for the expanded SCA2 alleles in the Indian population. We now report the identification of two novel single nucleotide polymorphisms (SNPs) in exon 1 of the SCA2 gene and their characterization in 215 normal and 64 expanded chromosomes. The two biallelic SNPs distinguished two haplotypes, GT and CC, each of which formed a predominant haplotype associated with normal and expanded SCA2 alleles. All the expanded alleles segregated with CC haplotype, which otherwise was associated with only 29.3% of the normal chromosomes. CAA interspersion analysis revealed that majority of the normal alleles with CC haplotype were either pure or lacked the most proximal 5' CAA interruption. The repeat length variation at SCA2 locus also appeared to be polar with changes occurring mostly at the 5' end of the repeat. Our results demonstrate that CAA interruptions play an important role in conferring stability to SCA2 repeat and their absence predisposes alleles towards instability and pathological expansion. Our study also provides new haplotypes associated with SCA2 that should prove useful in further understanding the mutational history and mechanism of repeat instability at the SCA2 locus.

Management of atypical epicapsular star.

An 18-year-old woman had brown pigment deposits on the central anterior capsule of the lens associated with poor visual acuity and significant anisometropia. Surgical removal of the deposits, phacoemulsification, and intraocular lens implantation resulted in visual improvement. Epicapsular stars are formed by the confluence of multiple fine pigmentary deposits. Although they cause amblyopia, this does not appear to be dense. Surgical removal of these central deposits may improve vision, even if the patient presents as an adult.

Comparison of tissue harmonic imaging with conventional US in abdominal disease.

Harmonic waves are generated from nonlinear distortion of an acoustic signal as an ultrasound wave insonates tissues in the body. These beams are integer multiples of a fundamental transmitted frequency. Potential advantages of harmonic imaging include improved axial resolution due to higher frequencies and better lateral resolution due to narrower beams. Decreased noise from side lobes improves signal-to-noise ratios and reduces artifacts. Deleterious effects of the body wall are also reduced. The authors prospectively studied ultrasonographic (US) findings in 100 adult patients with 202 abdominal lesions by comparing harmonic US images with conventional US images. The results were subjected to statistical analysis. Harmonic imaging was superior to conventional US in regard to lesion visibility and diagnostic confidence. Harmonic imaging was particularly useful for depicting cystic lesions and those containing echogenic tissues such as fat, calcium, or air. In patients with a body mass index of 30 or more, harmonic imaging was clearly better for lesion visibility and confidence of diagnosis. The authors recommend routine use of harmonic imaging for abdominal US studies in all adult patients.

Immune recovery vitritis presenting as panuveitis following therapy with protease inhibitors.

Immune reconstitution in acquired immunodeficiency syndrome (AIDS) patients on highly active anti-retroviral therapy (HAART) with cytomegalovirus (CMV) retinitis manifested as posterior segment intraocular inflammation has been reported. We report an adult HIV-positive Indian male with clinically inactive CMV retinitis who developed panuveitis with hypopyon. This was related to immune recovery mediated by combination anti-retroviral treatment, including protease inhibitors.

Public opinion regarding consent to treatment.

OBJECTIVE: To examine public opinion regarding certain elements of consent: disclosure, advance directives, substitute decisions, emergency treatment, and advocacy. DESIGN: Cross-sectional random-digit-dialing telephonic survey. SETTING: General public. PARTICIPANTS: One thousand randomly-selected adults living in Ontario. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Self-reported attitudes and behaviors. RESULTS: Of 5,708 telephone numbers drawn, 641 were non-valid or non-residential, 1,283 were not in service, 1,068 had no answer, a busy line, or an unavailable respondent, 147 subjects had a language barrier, 1,497 subjects refused, 72 interviews were incomplete, and 1,000 interviews were completed. With regard to disclosure, 33% of respondents said that a doctor should withhold information from a patient if asked to do so by the patient's family. With regard to advance directives, 36% of respondents had had advance discussions with their families, and 12% had completed a living will. With regard to substitute decisions, 77% of respondents said that they would went their wishes followed if they were unable to make medical decisions for themselves; 58% wanted their spouse or partner to make such decisions for them. With regard to emergency treatment, 48% of respondents stated that a doctor should give a life-saving blood transfusion to an unconscious adult carrying a card stating that blood transfusion was against his or her religious beliefs. With regard to advocacy, 78% of respondents supported mandatory advocacy services for serious health decisions such as whether to have heart surgery; 33% supported advocacy services for less serious decisions such as whether to have a dental filling. CONCLUSIONS: These data highlight the need to reconsider legislative provisions regarding and/or target public education programs toward specific consent-related issues including disclosure, advance directives, substitute decisions, emergency treatment, and advocacy.