On the role of surface morphology in impacting-freezing dynamics of supercooled droplets.

A thorough understanding of droplet impact and freezing is vital in preventing ice accretion on many outdoor devices. This simulation-based study investigated the effect of surface morphology on the impacting-freezing process of a supercooled droplet. Also, the variations of Weber number and supercooling temperature were studied numerically. The droplet impact and freezing process were simulated with the volume of fluid method and freezing model. A more accurate simulation was achieved by modeling the supercooled droplet and the dynamic contact angle. At the given ranges of the input parameters, the main factors that guaranteed droplet rebounding after collision were determined. The supercooling temperature and the groove width should be above 266 K and less than 0.21 mm, respectively. The droplet should also maintain its cohesion and integrity during impact. Creating grooves on a surface is novel and paves a new way to understand the impact and solidification of water droplets in supercooled conditions.

Motivations and personality characteristics of candidate sperm and oocyte donors according to parenthood status: a national study from the French CECOS network.

STUDY QUESTION: In a non-commercial national gamete donation programme, do the motivations and personality characteristics of candidate sperm and oocyte donors differ according to their parenthood status? SUMMARY ANSWER: Moderate differences exist between non-parent and parent candidate donors in motivations for gamete donation and representations as well as in personality characteristics. WHAT IS KNOWN ALREADY: Several studies have analysed the motivations and experiences of oocyte or sperm donors, but mainly in countries where gamete donation is a commercial transaction, and very few studies have reported results of personality traits using personality inventory tests. No study has specifically investigated the motivations and personality characteristics of candidate gamete donors according to parenthood status. STUDY DESIGN SIZE DURATION: A prospective study was carried out including 1021 candidate donors from 21 centres (in university hospitals) of the national sperm and egg banking network in France between November 2016 and December 2018. PARTICIPANTS/MATERIALS SETTING METHODS: In total, 1021 candidate gamete donors were included in the study. During their first visit, male (n = 488) and female candidate donors (n = 533) completed a questionnaire on sociodemographic characteristics, their motivations for donation and their representations of donation, infertility and family. Secondly, a NEO Personality Inventory (NEO-PI-R) exploring the Big Five personality traits was completed online. Results were compared between parent and non-parent candidate donors. MAIN RESULTS AND THE ROLE OF CHANCE: Altruistic values were the principal motive for donation irrespective of parenthood status. Reassurance about their fertility or preservation of sperm for future use was more often reported in non-parent than in parent candidate donors. With regard to representation of gamete donation or of the family, independently of their parenthood status, candidate donors more frequently selected social rather than biological representations. Mean personality characteristics were in the normal range. Non-parent candidate donors had higher scores on openness and depression than parents, while parent candidate donors appeared more social than non-parents. LIMITATIONS REASONS FOR CAUTION: The personality characteristics inventory was not completed by all candidate donors included in the study. However, family status did not differ between the two groups (NEO-PI-R completed (n = 525) or not), while the group who completed the NEO-PI-R had a higher educational level. This national study was performed in a country where gamete donation is subject to strict legislation. WIDER IMPLICATIONS OF THE FINDINGS: In a global context where reproductive medicine is commercialized and gamete donor resources are limited, this study found that altruism and social representations of gamete donation and family are the main motivations for gamete donation in a country which prohibits financial incentive. These findings are relevant for health policy and for gamete donation information campaigns. STUDY FUNDING/COMPETING INTERESTS: Grant from the Agence de la Biomédecine, France. The authors have nothing to disclose related to this study. TRIAL REGISTRATION NUMBER: N/A.

A calibration rig for multi-component internal strain gauge balance using the new design-of-experiment (DOE) approach.

In a closed water-tunnel circuit, the multi-component strain gauge force and moment sensor (also known as balance) are generally used to measure hydrodynamic forces and moments acting on scaled models. These balances are periodically calibrated by static loading. Their performance and accuracy depend significantly on the rig and the method of calibration. In this research, a new calibration rig was designed and constructed to calibrate multi-component internal strain gauge balances. The calibration rig has six degrees of freedom and six different component-loading structures that can be applied separately and synchronously. The system was designed based on the applicability of formal experimental design techniques, using gravity for balance loading and balance positioning and alignment relative to gravity. To evaluate the calibration rig, a six-component internal balance developed by Iran University of Science and Technology was calibrated using response surface methodology. According to the results, calibration rig met all design criteria. This rig provides the means by which various methods of formal experimental design techniques can be implemented. The simplicity of the rig saves time and money in the design of experiments and in balance calibration while simultaneously increasing the accuracy of these activities.

Decline in peripheral blood NKG2D+CD3+CD56+ NKT cells in metastatic colorectal cancer patients.

OBJECTIVE: Colorectal cancer (CRC) is one of the main causes of cancer deaths in the world. This cancer can be divided into non-metastatic and metastatic CRC stages. CD3+CD56+ NKT cell subsets are a minor T cell subset in peripheral blood and conduct the killing of tumor cells in direct manner. Little is obvious about levels and surface markers of these cells such as NKG2D in different cancers, especially in CRC. METHODS: We included 15 non-metastatic (low-grade), 11 non-metastatic (high-grade), 10 metastatic colorectal cancer patients and 18 healthy controls. The percentages of CD3+CD56+ NKT cells and NKG2D+CD56+ NKT cells from samples were analyzed by flow cytometry in peripheral blood mononuclear cells (PBMCs) of samples. RESULTS: We found that there was a significantly lower number of NKG2D+CD3+CD56+ cells in peripheral blood of patients with metastatic colorectal cancer compared with normal controls (77.53 ± 5.79 % vs 90.74 ± 9.84 %; p<0.01). CONCLUSION: The fact that frequency of NKG2D+CD56+ NKT cells was significantly lower in patients with metastatic colorectal cancer compared to healthy controls strengthens the hypothesis that NKT cells can play a substantial role in the protection against human colorectal cancer, and this opens up avenues for novel studies about elucidating the other aspects of tumor surveillance in CRC progression and immunotherapy (Tab. 2, Fig. 2, Ref. 46).

An apparatus to estimate the hydrodynamic coefficients of autonomous underwater vehicles using water tunnel testing.

Hydrodynamic coefficients or hydrodynamic derivatives of autonomous underwater vehicles (AUVs) play an important role in their development and maneuverability. The most popular way of estimating their coefficients is to implement captive model tests such as straight line tests and planar motion mechanism (PMM) tests in the towing tanks. This paper aims to develop an apparatus based on planar experiments of water tunnel in order to estimate hydrodynamic derivatives due to AUVs' acceleration and velocity. The capability of implementing straight line tests and PMM ones using mechanical oscillators located in the downstream flow of the model is considered in the design procedure of the system. The hydrodynamic derivatives that resulted from the acceleration and velocity of the AUV model were estimated using the apparatus that we developed. Static and dynamics test results were compared for the similar derivatives. The findings showed that the system provided the basis for conducting static tests, i.e., straight-line and dynamic tests that included pure pitch and pure heave. By conducting such tests in a water tunnel, we were able to eliminate errors related to the time limitation of the tests and the effects of surface waves in the towing tank on AUVs with applications in the deep sea.

[Significant association between nonsyndromic cleft lip with or without cleft palate and IRF6rs2235371 polymorphism in Iranian familiar population].

According to previous studies the IRF6rs2235371 polymorphism is a risk factor for NSCL/P in different populations. However our recent study revealed no correlation between IRF6rs642961 and NSCL/P in our population. In the present study we have investigated the relationship between IRF6rs2235371 and NSCL/P in same group to determine whether IRF6rs2235371 is a risk factor in our population as well. We analyzed the IRF6rs2235371 genotype in a subset of the Iranian population using the Polymerase Chain Reaction technique. The PCR products were digested with DpnII. Chi-square test was applied to analyze the obtained result. The patients were supplied by the Cleft Lip and Palate Clinic of the Isfahan University of Medical Science. A clinician ascertained the non-syndromic status of all patients and that no clefting drugs, ethanol or smoking were abused during pregnancy. The control group was selected from unaffected subjects with no history of NSCL/P in their families. 107 patients from 107 Iranian unrelated families and 100 controls were screened. There was a significant association between the IRF6rs2235371 genotype sand an increased NSCL/P risk. Our data indicates that the IRF6rs2235371 variation can increase the risk of NSCL/P in the Iranian population. This result is in contrast with the results of our recent study on the correlation between the IRF6rs642961 polymorphism and NSCL/P in the same group.

Surface osteosarcoma: Clinical features and therapeutic implications.

INTRODUCTION: Surface osteosarcoma are rare variant of osteosarcoma that include parosteal osteosarcoma, periosteal osteosarcoma and high grade surface osteosarcoma. These lesions have different clinical presentation and biological behavior compared to conventional osteosarcoma, and hence need to be managed differently. GOAL: The aim of this study is to analyze the clinico-pathological features and outcome of a series of surface osteosarcoma in an attempt to define the adequate treatment of this rare entity. PATIENT AND METHOD: It is a retrospective and bicentric study of 18 surface osteosarcoma that were seen at the KASSAB's Institute and SAHLOUL Hospital from 2006 to 2013. The authors reviewed the clinical and radiologic features, histologic sections, treatments, and outcomes in this group of patients. RESULTS: Seven patients were male (38.9%) and 11 were female (61.1%) with mean age of 25 years (range from 16 to 55 years). Eleven lesions were in the femur and 7 in the tibia. We identified 11 parosteal osteosarcoma (six of them were dedifferentiated), 3 periosteal osteosarcoma and 4 high grade surface osteosarcoma. Six patients had neoadjuvant chemotherapy and all lesions had surgical resection. Margins were wide in 15 cases and intra lesional in 3 cases. Histological response to chemotherapy was poor in all cases. The mean follow up was 34.5 months. Six patients (33.3%) presented local recurrence and 8 patients (44.4%) presented lung metastases. Six patients (33.3%) died from the disease after a mean follow up of 12 months (6-30 months); all of them had high grade lesions. CONCLUSION: Histological grade of malignancy is the main point to assess in surface osteosarcoma since it determines treatment and prognosis. Low grade lesions should be treated by wide resection, while high grade lesions need more aggressive surgical approach associated to post operative chemotherapy.

Lower oesophageal sphincter pressure and timed barium oesophagogram: two objective parameters in the non-invasive assessment of primary achalasia.

BACKGROUND: The non-invasive assessment of primary achalasia is not precise. AIM: To compare investigations before and 1 month after balloon dilation in achalasia. METHODS: Fifty-two patients with primary achalasia were enrolled. Subjective and objective variables of oesophageal functions were analysed before and 1 month after balloon dilation. RESULTS: The mean predilation symptom score, lower oesophageal sphincter pressure, height and volume of barium at 5 min were 7.7 +/- 2.6, 62.0 +/- 25.1 mmHg, 9.2 +/- 6.1 cm and 53.2 +/- 49.8 mL respectively; the mean postdilation values were 3.0 +/- 3.0, 34.1 +/- 12.5 mmHg, 7.9 +/- 5.1 cm and 28.0 +/- 30.1 mL respectively. The before dilation volume of barium at 5 min correlates significantly with lower oesophageal sphincter pressure (P < 0.01). The mean symptom scores, lower oesophageal sphincter pressure and volume of barium at 5 min dropped significantly after intervention (P < 0.01), but the reduction in barium height at 5 min was not significant. The percentage changes in volume at 5 min significantly predicted the percentage changes in lower oesophageal sphincter pressure (P < 0.01). CONCLUSIONS: The volume of barium retention at 5 min can predict the lower oesophageal sphincter pressure before and after balloon dilation in primary achalasia. This could be used as a non-invasive objective tool for initial and post-dilation assessment.

Single-nucleotide polymorphism genotyping using microarrays.

This unit provides a set of protocols for high throughput SNP genotyping using oligonucleotide microarrays. The basic protocol utilizes allele-specific hybridization in which the microarray provides both the allele discrimination and read-out. In the alternate approach, the allele discrimination is accomplished in solution and then the array is used to provide the read-out of the genotyping reaction. Single nucleotide polymorphisms (SNPs) offer several advantages over other genetic markers including their high density in the.

Hair removal with an Athos Nd:YAG 3.5 ms pulse laser: a 3-month clinical study.

INTRODUCTION/OBJECTIVE: This study aimed to evaluate the safety and efficacy of a 3.5 ms Nd:YAG laser for the removal of hair in subjects with Fitzpatrick skin types I-IV. Thanks to a pulse shorter than the hair Thermal Relaxation time (TRT), photothermolysis was thus achieved. METHODS: This study assessed the percentage of hair reduction at 1 month and at 3 months after a single Nd:YAG laser treatment (Athos; Quantel Médical, France); 3.5 ms pulse, single shot to 3 Hz, a maximum fluence of 80 J/cm2, 4 mm spot, no cooling system, no anaesthesia. The treatment sites consisted of three adjacent squares (optimum fluence, no treatment, -20% optimum fluence). Computerized hair counting was realized on digital pictures. The phototype, pain, side effects and patient's satisfaction were noted. Biopsies were performed 15 min after treatment. The enrolment consisted of 17 women, 22-60 years old, phototypes I-IV, with a follow-up at 1 month and 3 months of 25 sites. RESULTS: Counting at 1 month and at 3 months revealed a significant hair reduction compared with the control sites: 60% at 1 month (P < 0.001) and 24% at 3 months (P < 0.05) for optimal fluence (25-80 J/cm2), compared with 31% and 0% on the control sites; values similar to those published for Nd:YAG or diode lasers. There were no adverse effects at all. Biopsies showed lesions from necrosis coagulation of the root sheaths and hair disruption to isolated apoptotic cells in the outer root sheath, depending on the fluence applied. CONCLUSION: Results from this study show that the Athos Nd:YAG is efficient and safe for removing pigmented hair in phototypes I-IV.

Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism.

Chromosomal region 15q11-q13 has been implicated to harbor a susceptibility gene or genes underlying autism. Evidence has been derived from the existence of cytogenetic anomalies in this region associated with autism, and the report of linkage in a modest collection of multiplex families. Most recently, linkage disequilibrium with the marker GABRB3-155CA2 in the candidate locus GABRB3, located in this region, has been reported. We searched for linkage using eight microsatellite markers located in this region of chromosome 15 in 147 affected sib-pairs from 139 multiplex autism families. We also tested for linkage disequilibrium in the same set of families with the same markers. We found no evidence for excess allele sharing (linkage) for the markers in this region. Also, we found no evidence of linkage disequilibrium, including for the locus GABRB3-155CA2. Thus, it appears that the role of this region of chromosome 15 is minor, at best, in the majority of individuals with autism.

A genomic screen of autism: evidence for a multilocus etiology.

We have conducted a genome screen of autism, by linkage analysis in an initial set of 90 multiplex sibships, with parents, containing 97 independent affected sib pairs (ASPs), with follow-up in 49 additional multiplex sibships, containing 50 ASPs. In total, 519 markers were genotyped, including 362 for the initial screen, and an additional 157 were genotyped in the follow-up. As a control, we also included in the analysis unaffected sibs, which provided 51 discordant sib pairs (DSPs) for the initial screen and 29 for the follow-up. In the initial phase of the work, we observed increased identity by descent (IBD) in the ASPs (sharing of 51.6%) compared with the DSPs (sharing of 50.8%). The excess sharing in the ASPs could not be attributed to the effect of a small number of loci but, rather, was due to the modest increase in the entire distribution of IBD. These results are most compatible with a model specifying a large number of loci (perhaps >/=15) and are less compatible with models specifying

Exclusion of linkage to the HLA region in ninety multiplex sibships with autism.

Several studies have suggested a role for the histocompatibility complex of loci (HLA) in the genetic susceptibility to autism. We have tested this hypothesis by linkage analysis using genetic marker loci in the HLA region on chromosome 6p in multiplex families with autism. We have examined sharing of alleles identical by descent in 97 affected sib pairs from 90 families. Results demonstrate no deviation from the null expectation of 50% sharing of alleles in this region; in fact, for most marker loci, the observed sharing was less than 50%. Thus, it is unlikely that loci in this region contribute to the genetic etiology of autism to any significant extent in our families.

Comparative studies of the CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene.

The CAG repeat tract at the autosomal dominant spinocerebellar ataxia type 1 (SCA1) locus was analyzed in SCA1 families and French-Acadian, African-American, Caucasian, Greenland Inuit, and Thai populations. The normal alleles had 9-37 repeats, whereas disease alleles contained 44-64 repeats. The CAG repeat tract contained one or two CAT interruptions in 44 of 47 normal human chromosomes and in all five chimpanzees examined. In contrast, no CAT interruptions were found in Old World monkeys or expanded human alleles. The number and positions of CAT interruptions may be important in stabilizing CAG repeat tracts in normal chromosomes. At least five codons occupy the region corresponding to the polyglutamine tract at the SCA1 locus in mice, rats, and other rodents. They comprise three or four CCN (coding for proline) in addition to one or two CAG repeats.

Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats.

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder associated with an unstable and expanded CAG repeat. We analyzed this locus from various sources including MJD families, Acadian, African American, Caucasian, Greenland Inuit and Thai populations. The range of the CAG repeat size was 14-40 in the normal alleles while the MJD alleles contained 73-78 repeats in our studies. We found 25 different alleles on normal chromosomes with a heterozygosity of 0.86 in combined populations. The most common alleles were 23 (22.9%) and 14 (25.5%) repeats. We also examined 16 chimpanzees and various Old World monkeys: a pigtail macaque, a mangabey and 12 rhesus macaques. The DNA sequences surrounding the CAG repeat did not vary among species. The range of the number of the CAG repeats is 13-14 in macaques, 16 in mangabey and 14-20 in chimpanzees. Variant CAA or AAG triplets in the CAG repeat tracts were found in all 268 human, 28 monkey and 32 chimpanzee chromosomes. As reported in a previous study [Kawaguchi et al. (1994) Nature Genet. 8, 221-228] the common variant positions were the third (CAA), fourth (AAG) and sixth (CAA) positions. However, we found three human chromosomes containing CAG at the sixth position and the mangabey had AAG at the ninth position. In addition, we found CAG at the fourth position and AAG at the sixth position in all macaque chromosomes. The nucleotide following the CAG repeat tract was usually G in all species studied. However, we sometimes found C at this position in human and chimpanzee chromosomes. Interestingly, this variant C was found in all expanded chromosomes and in 54.5% of chromosomes with 27-40 CAG repeats but it was not found in any chromosomes with less than 20 CAG repeats. We hypothesize that the variant C may be associated with CAG repeat instability.

A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26.

DNA markers on the X chromosome were used to map the locus for an unusual form of X-linked recessive hereditary motor and sensory neuropathy with associated deafness and mental retardation in a three-generation family that was originally reported by Cowchock et al. (Am, J. Hum. Genet. 35: 85A, 1993; Am. J. Med. Genet. 20: 307-315, 1985). This family included seven affected males, three obligate carrier females, and four unaffected males. The patients were severely affected within the first few years of life with distal weakness, muscle atrophy, sensory loss, areflexia, pes cavus, and hammer toes. Five of the seven affected males showed associated deafness, and three of these five individuals also presented with mental retardation or social developmental delay. Motor nerve conduction velocities in affected males were normal to mildly delayed, and sensory conduction was markedly abnormal. Heterozygous females were asymptomatic. Close linkage to the Xg blood group locus (Xp22) and the PGK locus (Xq13) was previously excluded in this family, while weak linkage of the disease gene to DXYS1 (XQ21.3) was suggested. Our current linkage studies and haplotype analysis of 19 microsatellite markers on the long arm of the X chromosome demonstrate that DXS425 (Xq24) and HPRT (Xq26.1) are flanking markers and that the disease gene is closely linked to the markers DXS1122, DXS994, DXS737, DXS1206, and DXS1047.

Mapping of the gene for hormone sensitive lipase (LIPE) to chromosome 19q13.1-->q13.2.

Free fatty acids are the major source of fuel for mammals, and hormone sensitive lipase (LIPE) plays a critical role in lipid metabolism by mobilizing free fatty acids from stored triglycerides. We have identified and sequenced a partial cDNA for LIPE. Cosmids were identified by hybridization and mapped to 19q13.1-->q13.2 by FISH. Direct sequence analysis of a 1 kb segment of cosmid 26710 identifies a dinucleotide repeat in an intron upstream of exon 8 of human LIPE. This marker was heterozygous 82% of the time with 12 alleles (166-190 bp) detected in 122 chromosomes. The most likely order for this gene is: qter-[D19S178/LIPE]-(3 cM)-D19S47-(1 cM)-D19S190-RYR1-cen.

The deafness locus (dn) maps to mouse chromosome 19.

The deafness mouse has profound sensorineural hearing loss with degeneration of hair cells soon after birth. The mode of inheritance is recessive, and there are no associated phenotypic anomalies. Thus, this mouse provides a model for recessive, non-syndromic, prelingual deafness. We have mapped the gene causing deafness in the mouse to Chromosome (Chr) 19 by analysis of 230 intersubspecific backcross progeny. No recombinants were found with the microsatellite marker D19Mit14. The loci for two guanine nucleotide-binding proteins are tightly linked to this marker, and they are being investigated as possible candidate genes. The identification of the defective gene in the mouse will help to explain the mechanism that causes hair cell degeneration and is likely to identify a homologous gene for deafness in humans.

A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.

Crouzon craniofacial dysostosis (CFD) is an autosomal dominant craniofacial disorder characterized by premature craniosynostosis, shallow orbits and hypoplastic maxilla. To map the gene responsible, we have used a mapping strategy of testing for linkage to known developmental genes. Analysis of a large kindred established linkage between CFD and three loci (D10S190, D10S209 and D10S216) that span a 13 cM region on chromosome 10q. A maximum pairwise lod score of 4.42 (theta = 0) at D10S190 was obtained and the addition of a second kindred produced a combined pairwise lod score of 5.32 (theta = 0) at the same locus. The developmental gene, PAX2, located within this region, is an attractive candidate gene.