Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities.

COL27A1 encodes a collagen type XXVII alpha 1 chain. It is the product of this gene that provides the structural support of connective tissue and is reported to be the causative gene of Steel syndrome (OMIM #615155). The primary symptoms of patients with this defect are consistent with systemic bone disease; however, recent reports note findings of intellectual disability and hearing loss. In this study, we identified novel COL27A1 compound heterozygous variants in two brothers with rhizomelia and congenital hip dislocation as well as dental and genital abnormalities that have not yet been reported in Steel syndrome. This variant, of maternal origin, caused an amino acid substitution of arginine for glycine, c.2026G>C or p.G676R, in the collagen helix domain, which is assumed to damage the structure of the helix. The paternally transmitted variant, c.2367G>A, is located at the 3' end of exon 12, and cDNA analysis revealed a splicing alteration. These novel, compound heterozygous COL27A1 variants might indicate an association of the gene with tooth and genital abnormalities.

Problems on the Evaluation of the Critical Wavelength of Sunscreens for "Broad Spectrum" Approval Brought on by Viscous Fingering During Sunscreen Application.

When a viscous liquid is applied to a solid substrate, a patterned liquid layer is usually formed by the phenomenon called viscous fingering, since the moving liquid surface is in far-from-equilibrium conditions to let the morphological fluctuation to grow. Pseudosunscreen solutions were prepared and applied on a flat quartz plate. A spatially periodic stripe pattern was formed on the pseudosunscreen layer when a block applicator was used, whereas a flat surface layer was formed when a four-sided applicator was used. UV absorbance of the patterned layer was lower than that of the flat layer having the same average thickness. In addition, a larger decrease in the UV absorbance by the pattern formation was observed at wavelengths at which the UV absorbance of the flat layer was large, which was consistent with theoretical simulations. In 2011, US FDA introduced a new rule using the term "Broad Spectrum" for labeling the sunscreens. The different decrease in the UV absorbance at each wavelength was found to change the critical wavelength, which is a criterion for sunscreens to be labeled as "Broad Spectrum" protection. The result of this study makes the problem on the evaluation of the critical wavelength come to the surface.

Relationship between developmental dislocation of the hip in infant and acetabular dysplasia at skeletal maturity.

Previous reports demonstrated 8-60% patients treated for developmental dislocation of hip (DDH) in infancy have residual acetabular dysplasia (AD) at skeletal maturity. AD patients reportedly exhibit abnormal morphology of the pelvis, high rates of comorbid spinal congenital anomalies and high bone mineral density. These physical findings suggest that AD patients have genetic background. We examined the percentage of AD patients with hip pain at skeletal maturity having a history of DDH in infancy and the correlation between the severity of AD at skeletal maturity and history of DDH treatment to investigate the relationship between AD and DDH.A total of 245 patients were radiographically examined for any history of DDH treatment in infancy. The study included 226 women and 19 men with a mean age at examination of 40.7 years (range 17-59 years).Eighty-eight patients (36%) had a history of DDH treatment (DDH group) and the remaining 157 patients (64%) had no history of DDH treatment (non-DDH group). The average age was lower and acetabular angle was larger in the DDH group. There was a significant increasing trend of the percentage of DDH patients associated with the severity of AD classified with CE, acetabular angle, and acetabular roof angle.Our data suggest that there are several AD patients without a history of DDH in Japan, and AD in patients without a history of DDH has different characteristics from AD in patients with a history of DDH.

Photoresponsive stripe pattern in achiral azobenzene liquid crystals.

A periodic stripe pattern is found in the nematic phase close to the smectic phase of photoresponsive achiral liquid-crystalline compounds. The origin of the stripe patterns can be ascribed to an extremely large bent elastic constant K33 . In addition, we succeeded in controlling the pattern by the following two methods: 1) the stripe disappears by a trans-cis photoisomerization upon UV light irradiation and reappears upon light termination, and 2) the stripe pattern is stabilized over the whole nematic phase, at approximately 10 °C, by polymerization of the compounds.

Structure-sensitive bend elastic constants between piconewton and subnanonewton in diphenylacetylene-core-based liquid crystals.

Elastic constants in liquid crystals are known to be in the range of pico- and several-tens piconewton (pN). We report herein that a bend elastic constant, K33, remarkably varies depending on a slight modification of the chemical structure in an analogous series of calamitic liquid crystals. In contrast to the record-high bend elastic constants (hundreds pN or sub-nN) reported previously in a compound with an azo linkage, analogous compounds with tolan and ester linkages show several-tens pN and pN, respectively. X-ray diffraction studies of these compounds reveal that smectic-like layer structures (cybotacticclusters) are formed in the nematic phase of only the homologous compounds with an azo linkage, certifying the idea that the existence of cybotactic clusters strongly enhances K33. Two theoretical considerations were made: (1) Based on molecular conformation calculation, flat molecules that have high torsional potential energy, such as the one with an azo linkage, easily pack to form cybotactic clusters. (2) Theoretical estimation was made of how much cluster volume ratio is necessary to give about 100-times-larger K33s.

Discrepancy in bone mineral densities at different skeletal sites in hip osteoarthritis patients.

OBJECTIVE: Increased femoral neck bone mineral density (BMD) in a hip with osteoarthritis (OA) has been previously reported, however, it is possible that increased BMD at sites other than the hip joint is influenced by the disease process of OA. Therefore, we measured BMD at locations different from the hip joint and determined whether higher BMD was also observed at these different skeletal sites in hip OA patients. METHODS: We measured BMD in 68 women (average age 61.0 years) scheduled to undergo total hip arthroplasty for end-stage OA and 100 healthy women (average age 60.9 years) as age-matched controls. BMD at the lumbar spine, radius, and calcaneus was measured by dual-energy X-ray absorptiometry (DXA). Moreover, we measured speed of sound (SOS), broadband ultrasound attenuation (BUA), and stiffness index of the calcaneus by quantitative ultrasonography (QUS). RESULTS: BMD obtained by DXA at the lumbar spine and radius was significantly higher in hip OA patients than in controls. However, at the calcaneus, no significant differences were observed between the groups in BMD obtained by DXA. SOS, BUA, and stiffness index obtained by QUS were significantly lower in the OA group than in controls. CONCLUSION: Higher BMDs of the spine and radius suggest that the incidence of osteoporosis is inversely associated with the incidence of OA. However, it remains unclear whether lack of difference in BMD and lower SOS, BUA, and stiffness index of the calcaneus in the OA group was secondary to the effect walking disturbance resulting from hip pain. Our data suggest that hip OA patients have higher BMD than healthy women, and that inactivity or immobilization caused by hip OA may reduce BMD in the lower limb.

Relationship of acetabular dysplasia in females with osteoarthritis of the hip to the distance between both anterior superior iliac spines.

BACKGROUND: Acetabular dysplasia (AD) is the main cause of hip osteoarthritis in Japan. A simple method to evaluate acetabular dysplasia would be helpful for early treatment or prevention of hip osteoarthritis. Acetabular dysplasia is reported to be associated with pathological transverse growth of the pelvis, indicating that the distance between the 2 anterior superior iliac spines might be useful for screening and detection of acetabular dysplasia. The purpose of this study was to determine if the acetabular dysplasia radiographic parameters are related to the distance between the 2 anterior superior iliac spines in patients with hip osteoarthritis. MATERIAL AND METHODS: In this study, data obtained in a previous multi-institutional examination of patients with hip osteoarthritis in Japan were evaluated. The anterior superior iliac spine distances of 176 female patients (mean age, 54 years; range, 18-85 years) were measured by physical examination. The relationship between the anterior superior iliac spine distance and acetabular dysplasia was analyzed, and the anterior superior iliac spine distances of the patients with acetabular dysplasia who were at relatively high risk for hip osteoarthritis were compared with that of the patients at lower risk. RESULTS: A statistically significant relationship between the anterior superior iliac spine distance and all of the acetabular dysplasia parameters was observed. The anterior superior iliac spine distances of the acetabular dysplasia patients with a relatively high risk for radiographic acetabular dysplasia parameters were significantly smaller than those of patients at lower risk. Even after adjustment for age, height, and weight, significantly increased relative risk for having high risk AD was found in patients with an ASIS distance of less than 24.5 cm. CONCLUSIONS: There was a significant relationship between the anterior superior iliac spine distance and the degree of acetabular dysplasia.

Highly elastic liquid crystals with a sub-nanonewton bending elastic constant mediated by the resident molecular assemblies.

A surprisingly high bending elastic constant (K33 ) is obtained in a newly synthesized compound shown here. Mixtures containing a few percent of this compound confirm the influence of the unusual K33 values, and show an improved electro-optic response. The origin of the huge K33 is discussed based on the formation of a smectic cluster structure formed in the nematic phase.

Bone mineral density in patients with destructive arthrosis of the hip joint.

Recent reports have shown the existence of subchondral insufficiency fracture in rapidly destructive arthrosis of the hip joint (RDA), and the findings suggest that osteopenia is related to the pathogenesis of the rapid progression of this disease. Therefore, we measured bone mineral density (BMD) in RDA patients. We measured BMD of the lumbar spine, radius, and calcaneus using dual-energy X-ray absorptiometry in 19 patients with RDA and 75 with osteoarthritis of the hip (OA) and compared BMD at different skeletal sites between RDA and OA patients. No significant differences were observed in BMD of the lumbar spine, ultradistal radius, mid-radius, and calcaneous between the RDA and OA groups. Our data suggest that RDA is not accompanied by generalized osteoporosis. Factors other than generalized bone status, for example, BMD around the affected hip joint before destruction, need to be analyzed to elucidate the pathophysiological mechanism of RDA.

Discrepancy in bone mineral densities at different skeletal sites in hip osteoarthritis patients.

OBJECTIVE: Increased femoral neck bone mineral density (BMD) in a hip with osteoarthritis (OA) has been previously reported, however, it is possible that increased BMD at sites other than the hip joint is influenced by the disease process of OA. Therefore, we measured BMD at locations different from the hip joint and determined whether higher BMD was also observed at these different skeletal sites in hip OA patients. METHODS: We measured BMD in 68 women (average age 61.0 years) scheduled to undergo total hip arthroplasty for end-stage OA and 100 healthy women (average age 60.9 years) as age-matched controls. BMD at the lumbar spine, radius, and calcaneus was measured by dual-energy X-ray absorptiometry (DXA). Moreover, we measured speed of sound (SOS), broadband ultrasound attenuation (BUA), and stiffness index of the calcaneus by quantitative ultrasonography (QUS). RESULTS: BMD obtained by DXA at the lumbar spine and radius was significantly higher in hip OA patients than in controls. However, at the calcaneus, no significant differences were observed between the groups in BMD obtained by DXA. SOS, BUA, and stiffness index obtained by QUS were significantly lower in the OA group than in controls. CONCLUSION: Higher BMDs of the spine and radius suggest that the incidence of osteoporosis is inversely associated with the incidence of OA. However, it remains unclear whether lack of difference in BMD and lower SOS, BUA, and stiffness index of the calcaneus in the OA group was secondary to the effect walking disturbance resulting from hip pain. Our data suggest that hip OA patients have higher BMD than healthy women, and that inactivity or immobilization caused by hip OA may reduce BMD in the lower limb.

Formation of chiral environments by a mechanical induced vortex flow.

A chiral molecule absorbs preferentially right- or left-handed circularly polarized light in a circular dichroism (CD) measurement. Usually, the chirality of individual molecules is regarded as the origin of the CD signals. However, recently, several reports have suggested that the vortex flow of a solution of an achiral molecule gives rise to a CD signal, which is dependent on the stirring direction. This article introduces types of molecular architecture and material designs that show stir-induced chirality. We also discuss the effects of the molecular structure and alignment in vortex flows on this phenomena, reviewing the related issues.

Bone mineral density is not related to heterotopic ossification after total hip arthroplasty.

PURPOSE: Heterotopic ossification (HO) after total hip arthroplasty (THA) is a frequent complication that compromises the success of this procedure; however, its precise pathogenesis is unknown. Patient-related risk factors have previously been investigated to predict patients likely to have HO. In this study, we compared bone mineral density (BMD) between patients with and without HO after THA. METHODS: We measured BMD of the lumbar spine, radius, and calcaneus using dual-energy X-ray absorptiometry in 98 females who were scheduled to undergo THA. Radiographs were graded for the presence of HO according to the criteria of Brooker at a minimum follow-up of two years following THA. BMD were compared between those with HO and those without. RESULTS: In total, HO was observed in 20 of 98 hips. There were no significant differences in age, height, weight, body mass index, and pre-operative total hip score between the HO and non-HO groups. No significant difference was observed in BMD of the lumbar spine, distal radius, mid-radius, and calcaneus between the two groups. CONCLUSIONS: Our findings suggest that generalized BMD is not related to the occurrence of HO after THA in women.

Mass migration on a polymer surface caused by photoinduced molecular rotation.

We demonstrated the formation of a photoinduced surface relief grating using thin films comprising a photochromic molecular motor, 9-(2-phenyl-2,3-dihydro-cyclopenta[a]naphthalen-1-ylidene)-9H-fluorene. Results show that mass migration occurred by patterned light irradiation prepared from interfered laser beams and a photomask.

Circularly polarized luminescence of rhodamine†B in a supramolecular chiral medium formed by a vortex flow.

Sucked into the vortex: Hydrogels with embedded Rhodamine B dye showed stir-induced circularly polarized luminescence (CPL; see picture), the sense of which can be controlled by switching the stir direction from clockwise (CW) to counterclockwise (CCW) with slow cooling from the sol to gel states. The chiral alignment of the dye was erased by heating the sample above the gel-sol transition temperature.

Osteoarthritis hip joints in Japan: involvement of acetabular dysplasia.

BACKGROUND: We conducted a nationwide epidemiologic study regarding hip osteoarthritis (OA) in Japan, and a previous report found these patients to be unique in comparison to Caucasians. This report focused on the data regarding each hip joint, and the involvement of acetabular dysplasia with hip OA was analyzed. METHODS: Seven hundred twenty OA hips were examined. Sixty-five joints with osteonecrosis of the femoral head and 215 non-OA contralateral joints of the unilateral patients were examined as controls. The revised system of stage classification for hip OA of the Japanese Orthopedic Association (JOA) was used according to the reproducibility in order to ensure reliable data from the multiple institutions. The acetabular dysplasia indexes were also chosen according to the reproducibility and measured in the radiograph of bilateral hip joints. The clinical score was assessed using the JOA scoring system. The relative risk of the grade of acetabular dysplasia indexes for hip OA was calculated as the odds ratio and the 95% confidence interval. RESULTS: The stage of the OA joints deteriorated with increasing age. The clinical scores also decreased. The grade of the acetabular dysplasia indexes of the OA joints was significantly higher than that of the control joints. Each index of acetabular dysplasia demonstrated significantly increased odds ratios for hip OA. Among the OA joints, the deterioration of the OA stage was found to be significantly associated with an increasing grade of acetabular dysplasia. The odds ratio for OA deterioration in the acetabular dysplasia index was also obtained. The joints of females tended to have a higher grade and prevalence of acetabular dysplasia than those of males. CONCLUSIONS: These findings confirmed a high prevalence of acetabular dysplasia in hip OA joints in Japan. Acetabular dysplasia was one of the most important factors associated with hip OA.

Bone mineral density is not related to osteophyte formation in osteoarthritis of the hip.

OBJECTIVE: Reports have suggested that bone mineral density (BMD) is higher in patients with osteoarthritis (OA) of the hip than in healthy controls. Various types of OA of the hip caused by osteophyte formation were observed on radiographs during progression to the advanced degenerative stage, and the preoperative type of OA was reported to influence the results of surgical treatment. However, the mechanism underlying the development of different types of OA is still unknown. We measured BMD of patients with hip OA and determined whether higher BMD was observed in patients with osteophyte formation than in those without osteophytes. METHODS: We measured BMD of the lumbar spine, radius, and calcaneus using dual-energy x-ray absorptiometry in 88 women who were scheduled to undergo total hip arthroplasty for endstage OA. Hips were evaluated for osteophyte formation using Bombelli's classification; 31 were graded as atrophic type, 30 as normotrophic, and 27 as hypertrophic. BMD at different skeletal sites were compared among the 3 types of OA. RESULTS: No significant difference in BMD of the lumbar spine, ultradistal radius, mid-radius, or calcaneus was observed among the atrophic, normotrophic, and hypertrophic types of OA. CONCLUSION: Our data suggest that osteophyte formation is not related to general BMD. Factors other than general bone status, for example the morphology of the hip joint, need to be analyzed to determine the pathomechanism of osteophyte formation in the osteoarthritic hip.

Analysis of interobserver reliability for radiographic staging of coxarthrosis and indexes of acetabular dysplasia: a preliminary study.

BACKGROUND: We are planning a multicenter survey on coxarthrosis and acetabular dysplasia in Japan. To collect reliable data, we performed a preliminary study to elucidate the observer agreement on assessment items. METHODS: We collected radiographs of hip joints in eight patients with various findings of coxarthrosis. Twelve registered orthopedic specialists evaluated them regarding the roentgenographic stage of coxarthrosis and five indexes of acetabular dysplasia (acetabular angle, center-edge angle, acetabular roof obliquity, acetabular head quotient, approximate acetabular quotient). To assess observer agreement, we calculated the value of the kappa statistic for stages and the coefficient of variation for the indexes. The same 12 specialists then assessed the coxarthritis stage on the same radiographs 1 month after the first evaluation based on our own descriptions of the roentgenographic stages. RESULTS: For the first evaluation of the roentgenographic stage, the value of the kappa statistic was 0.448; and for the second evaluation it was 0.600. The results of the coefficient of variation for the indexes of acetabular dysplasia, ranked in ascending order, were as follows: acetabular angle, acetabular head quotient, acetabular roof obliquity, center-edge angle, approximate acetabular quotient. CONCLUSIONS: For the upcoming multicenter survey, clear descriptions of the stages of coxarthrosis and selection of appropriate indexes can be helpful for collecting dependable results.

Joint congruency in abduction before surgery as an indication for rotational acetabular osteotomy in early hip osteoarthritis.

We conducted a retrospective review of the results of rotational acetabular osteotomy (RAO) procedures in 92 hips of 89 patients (81 females and eight males) with early-stage osteoarthritis. In this study, we discuss the indications for this surgery based on the preoperative congruency in abduction. The mean postoperative follow-up was 12.2 (7-19) years. The mean age at operation was 32.5 (13-54) years. Two hips with apparent technical failure were excluded. During follow-up, the osteoarthritic stage remained unchanged in 76 hips (good group) and progressed in 14 hips (poor group). Preoperative joint congruency in abduction was excellent in 20 hips, good in 62, and fair in eight. All eight hips with fair joint congruency showed progression to osteoarthritis at follow-up. Patients without good congruency in abduction may experience progression of osteoarthritis after RAO procedures even in early-stage osteoarthritis.