Spectral tuning by selective chromophore uptake in rods and cones of eight populations of nine-spined stickleback (Pungitius pungitius).

The visual pigments of rods and cones were studied in eight Fennoscandian populations of nine-spined stickleback (Pungitius pungitius). The wavelength of maximum absorbance of the rod pigment (λ(max)) varied between populations from 504 to 530 nm. Gene sequencing showed that the rod opsins of all populations were identical in amino acid composition, implying that the differences were due to varying proportions of chromophores A1 and A2. Four spectral classes of cones were found (two S-cones, M-cones and L-cones), correlating with the four classes of vertebrate cone pigments. For quantitative estimation of chromophore proportions, we considered mainly rods and M-cones. In four populations, spectra of both photoreceptor types indicated A2 dominance (population mean λ(max)=525-530 nm for rods and 535-544 nm for M-cones). In the four remaining populations, however, rod spectra (mean λ(max)=504-511 nm) indicated strong A1 dominance, whereas M-cone spectra (mean λ(max)=519-534 nm) suggested substantial fractions of A2. Quantitative analysis of spectra by three methods confirmed that rods and cones in these populations use significantly different chromophore proportions. The outcome is a shift of M-cone spectra towards longer wavelengths and a better match to the photic environment (light spectra peaking >560 nm in all the habitats) than would result from the chromophore proportions of the rods. Chromophore content was also observed to vary partly independently in M- and L-cones with potential consequences for colour discrimination. This is the first demonstration that selective processing of chromophore in rods and cones, and in different cone types, may be ecologically relevant.

Inheritance of nasal dermoid sinus cyst and evidence for association with third ventricle colloid cyst.

PURPOSE: The purpose of this paper is to study the possible inheritance of nasal dermoid sinus cyst in the Finnish population. METHODS: A patient questionnaire and interview were utilized for this study. RESULTS: We identified nine patients with dermoid sinus cyst. Only one of them had familial nasal dermoid sinus cyst. We found no evidence for founder effect. CONCLUSIONS: We report a pedigree with six affected individuals and an association of nasal dermoid sinus cyst and third ventricle colloid cyst. Whether patients or pedigrees with nasal dermoid sinus cyst (NDSC) and third ventricle colloid cysts represent a previously unrecognized syndrome or belong to the normal phenotypic spectrum of NDSC remains unclear. Our patient material suggests that only minority of NDSCs seem to be familial.

Deficient language acquisition in children with single suture craniosynostosis and deformational posterior plagiocephaly.

PURPOSE: This study examined early language acquisition in children with single suture craniosynostosis (SSC) and in children with deformational posterior plagiocephaly. Our purpose was to determine whether infants with SSC have normal language acquisition at the age of 3 years, and whether infants with deformational posterior plagiocephaly demonstrate parallel development when compared with children with SSC. METHODS: The study population includes 61 infants. Twenty of them had synostosis of the sagittal suture, 12 synostosis of other suture and 29 deformational posterior plagiocephaly. Forty-nine of them were operated on a mean age of 10.6 months, and 12 were non-operated children with deformational posterior plagiocephaly. Language skills of participants were prospectively evaluated at the mean age of 3 years 4 months. RESULTS: About one half of the subjects (49%) had normal linguistic development, 30% had slight developmental problems and 21% had severe disorders in speech-language-related skills. These figures showed the prevalence of severe language disorders to be three times higher in our study population when compared with the general population. Children with sagittal synostosis managed better in all language skills compared with other types of SSC. Defective language development was found in deformational posterior plagiocephaly, both operated and non-operated. CONCLUSIONS: We found a noticeable developmental risk for specific language impairment in children with nonsyndromic SSC, and that the deviant language development is observable already in early infancy. Contrary to previous beliefs, the developmental risk for defective language development in deformational posterior plagiocephaly was found in both operated and non-operated subjects.

Treatment of lymphatic malformations of head and neck with OK-432 sclerotherapy induce systemic inflammatory response.

Systemic immune responses after OK-432 (Picibanil) sclerotherapy in patients with head and neck lymphatic malformations (LM) were examined to achieve a better understanding of the mechanism of OK-432 sclerotherapy and to evaluate the long-term treatment outcome. Serum samples from 17 consecutive patients with head and neck LMs were collected during a total of 26 OK-432 treatment episodes. Serum C-reactive protein (CRP), interleukins (IL) 1ß, 6, 8, 10, tumor necrosis factor (TNF)-α, interferon (IFN)-γ, RANTES, immune protein (IP)-10 and macrophage chemoattractant protein (MCP)-1 as well as blood leukocyte counts were determined. Clinical outcome of the treatment was evaluated at the last visit and from patient files. Elevated serum levels of IP-10 (means at baseline 702 ng/L, after 1 day 1180 ng/L, after 4 weeks 691 ng/L) were seen on day one after OK-432 sclerotherapy (p < 0.05). C-reactive protein and leukocyte counts 1 day after treatment differed statistically significantly (p < 0.05) from the baseline. No significant differences with other cytokines investigated were observed. Patients with macrocystic LM responded better than patients with microcystic LM (p = 0.01). The elevated levels of IP-10, C-reactive protein and leukocyte levels indicate that OK-432 sclerotherapy induces systemic immune responses in patients with LM. The mechanisms of OK-432 sclerotherapy are still not precisely understood, but the IP-10 elevation may reflect local antiangiogenetic properties of immunoactivation induced by OK-432.

Single suture craniosynostosis: diagnosis and imaging.

Craniosynostosis, premature suture fusion, is one of the most common craniofacial anomalies affecting approximately 1 in 2,500 live births. Craniosynostosis is most commonly an isolated (nonsyndromic) condition with the sagittal suture being the most commonly affected suture. In this review we describe the range of isolated synostoses and show how these can lead to a variety of different morphological and functional abnormalities.

A case study of amnion rupture sequence with acalvaria, blindness, and clefting: clinical and psychological profiles.

The purpose of this article is to report the case of a 10-year-old girl born with anophthalmia, bilateral oblique facial clefts, and missing scalp and bones over the temporal and parietal areas of the cranial vault bilaterally. Early amnion rupture seems to be the most probable cause of this rare combination of anomalies. Because no similar case has been reported in the literature so far, we describe here the clinical and psychosocial history of this unusual patient, who has been able to live the intellectually and socially normal life of a blind child in spite of the major craniofacial deformities. The already completed and possible future therapeutic strategies are discussed.

The thermal contribution to photoactivation in A2 visual pigments studied by temperature effects on spectral properties.

Effects of temperature on the spectral properties of visual pigments were measured in the physiological range (5-28 degrees C) in photoreceptor cells of bullfrog (Rana catesbeiana) and crucian carp (Carassius carassius). Absorbance spectra recorded by microspectrophotometry (MSP) in single cells and sensitivity spectra recorded by electroretinography (ERG) across the isolated retina were combined to yield accurate composite spectra from ca. 400 nm to 800 nm. The four photoreceptor types selected for study allowed three comparisons illuminating the properties of pigments using the dehydroretinal (A2) chromophore: (1) the two members of an A1/A2 pigment pair with the same opsin (porphyropsin vs. rhodopsin in bullfrog "red" rods); (2) two A2 pigments with similar spectra (porphyropsin rods of bullfrog and crucian carp); and (3) two A2 pigments with different spectra (rods vs. long-wavelength-sensitive (L-) cones of crucian carp). Qualitatively, the temperature effects on A2 pigments were similar to those described previously for the A1 pigment of toad "red" rods. Warming caused an increase in relative sensitivities at very long wavelengths but additionally a small shift of lambdamax toward shorter wavelengths. The former effect was used for estimating the minimum energy required for photoactivation (Ea) of the pigment. Bullfrog rod opsin with A2 chromophore had Ea = 44.2 +/- 0.9 kcal/mol, significantly lower (one-tailed P < 0.05) than the value Ea = 46.5 +/- 0.8 kcal/mol for the same opsin coupled to A1. The A2 rod pigment of crucian carp had Ea = 42.3 +/- 0.6 kcal/mol, which is significantly higher (one-tailed P < 0.01) than that of the L-cones in the same retina (Ea = 38.3 +/- 0.4 kcal/mol), whereas the difference compared with the bullfrog A2 rod pigment is not statistically significant (two-tailed P = 0.13). No strict connection between lambdamax and Ea appears to exist among A2 pigments any more than among A1 pigments. Still, the A1 --> A2 chromophore substitution in bullfrog opsin causes three changes correlated as originally hypothesized by Barlow (1957): a red-shift of lambdamax, a decrease in Ea, and an increase in thermal noise.

Temperature effects on spectral properties of red and green rods in toad retina.

Temperature effects on spectral properties of the two types of rod photoreceptors in toad retina, "red" and "green" rods, were studied in the range 0-38 degrees C. Absorbance spectra of the visual pigments were recorded by single-cell microspectrophotometry (MSP) and spectral sensitivities of red rods were measured by electroretinogram (ERG) recording across the isolated retina. The red-rod visual pigment is a usual rhodopsin (lambda(max) = 503.6 nm and 502.3 nm at room temperature (21degrees C) in, respectively, Bufo marinus and Bufo bufo), that of green rods (lambda(max) = 432.6 nm in Bufo marinus) belongs to the "blue" cone pigment family. In red rods, lambda(max) depended inversely and monotonically on temperature, shifting by -2.3 nm when temperature was raised from 0 degrees C to 38 degrees C. Green-rod lambda(max) showed no measurable dependence on temperature. In red rods, warming caused a relative increase of sensitivity in the long-wavelength range. This effect can be used for estimating the energy needed for photoexcitation, giving Ea = 44.3 +/- 0.6 kcal/mol for Bufo marinus rhodopsin and 48.8 +/- 0.5 kcal/mol for Bufo bufo rhodopsin. The values are significantly different (P < 0.001), although the two rhodopsins have very similar absorption spectra and thermal isomerization rates. Our recording techniques did not allow measurement of the corresponding effect at long wavelengths in green rods. Although spectral effects of temperature changes in the physiological range are small and of little significance for visual function, they reveal information about the energy states and different spectral tuning mechanisms of the visual pigments.