The Case for Space Sexology.

Space poses significant challenges for human intimacy and sexuality. Life in space habitats during long-term travel, exploration, or settlement may: detrimentally impact the sexual and reproductive functions of astronauts, restrict privacy and access to intimate partners, impose hygiene protocols and abstinence policies, and heighten risks of interpersonal conflicts and sexual violence. Together, this may jeopardize the health and well-being of space inhabitants, crew performance, and mission success. Yet, little attention has been given to the sexological issues of human life in space. This situation is untenable considering our upcoming space missions and expansion. It is time for space organizations to embrace a new discipline, space sexology: the scientific study of extraterrestrial intimacy and sexuality. To make this case, we draw attention to the lack of research on space intimacy and sexuality; discuss the risks and benefits of extraterrestrial eroticism; and propose an initial biopsychosocial framework to envision a broad, collaborative scientific agenda on space sexology. We also underline key anticipated challenges faced by this innovative field and suggest paths to solutions. We conclude that space programs and exploration require a new perspective - one that holistically addresses the intimate and sexual needs of humans - in our pursuit of a spacefaring civilization.

Author Correction: Anak Krakatau triggers volcanic freezer in the upper troposphere.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Anak Krakatau triggers volcanic freezer in the upper troposphere.

Volcanic activity occurring in tropical moist atmospheres can promote deep convection and trigger volcanic thunderstorms. These phenomena, however, are rarely observed to last continuously for more than a day and so insights into the dynamics, microphysics and electrification processes are limited. Here we present a multidisciplinary study on an extreme case, where volcanically-triggered deep convection lasted for six days. We show that this unprecedented event was caused and sustained by phreatomagmatic activity at Anak Krakatau volcano, Indonesia during 22-28 December 2018. Our modelling suggests an ice mass flow rate of ~5 × 106 kg/s for the initial explosive eruption associated with a flank collapse. Following the flank collapse, a deep convective cloud column formed over the volcano and acted as a 'volcanic freezer' containing ~3 × 109 kg of ice on average with maxima reaching ~1010 kg. Our satellite analyses reveal that the convective anvil cloud, reaching 16-18 km above sea level, was ice-rich and ash-poor. Cloud-top temperatures hovered around -80 °C and ice particles produced in the anvil were notably small (effective radii ~20 µm). Our analyses indicate that vigorous updrafts (>50 m/s) and prodigious ice production explain the impressive number of lightning flashes (~100,000) recorded near the volcano from 22 to 28 December 2018. Our results, together with the unique dataset we have compiled, show that lightning flash rates were strongly correlated (R = 0.77) with satellite-derived plume heights for this event.

What's in an EEM? Molecular signatures associated with dissolved organic fluorescence in boreal Canada.

Dissolved organic matter (DOM) is a master variable in aquatic systems. Modern fluorescence techniques couple measurements of excitation emission matrix (EEM) spectra and parallel factor analysis (PARAFAC) to determine fluorescent DOM (FDOM) components and DOM quality. However, the molecular signatures associated with PARAFAC components are poorly defined. In the current study we characterized river water samples from boreal Québec, Canada, using EEM/PARAFAC analysis and ultrahigh resolution mass spectrometry (FTICR-MS). Spearman's correlation of FTICR-MS peak and PARAFAC component relative intensities determined the molecular families associated with 6 PARAFAC components. Molecular families associated with PARAFAC components numbered from 39 to 572 FTICR-MS derived elemental formulas. Detailed molecular properties for each of the classical humic- and protein-like FDOM components are presented. FTICR-MS formulas assigned to PARAFAC components represented 39% of the total number of formulas identified and 59% of total FTICR-MS peak intensities, and included significant numbers compounds that are highly unlikely to fluoresce. Thus, fluorescence measurements offer insight into the biogeochemical cycling of a large proportion of the DOM pool, including a broad suite of unseen molecules that apparently follow the same gradients as FDOM in the environment.

Study of sleep in a walrus.

Several behavioral and physiological adaptations have been developed in evolution of Pinnipeds allowing them to sleep both on land and in water. To date sleep has been examined in detail in eared and true seals (the families of Otariidae and Phocidae). The aim of this study was to examine sleep in another semiaquatic mammal - the walrus, which is the only extant representative of the family Odobenidae. Slow wave and paradoxical sleep (SWS and PS) in the examined walrus (2 year old female, weight 130 kg) averaged 19.4 ± 2.0 and 6.9 ± 1.1% of 24-h when on land, and 20.5 ± 0.8% of 24-h and 1.1 ± 0.6% when in water, respectively. The average duration of PS episode was 6.4 ± 0.6 min (maximum 23 min) when on land and 1.8 ± 0.1 min (maximum 3.3 min) when in water. In water, sleep occurred predominantly while the walrus submerged and lay on the bottom of the pool (89% of total sleep time). The walrus usually woke up while emerging to the surface for breathing. Most often EEG slow waves developed synchronously in both cortical hemispheres (90% of SWS time when on land and 97% when in water). Short episodes of interhemispheric EEG asymmetry usually coincided with brief opening of one eye. The pattern of sleep in the walrus was similar to the pattern of sleep in the Otariidae seals while on land (predominantly bilateral SWS, accompanied by regular breathing) and to the pattern of sleep in the Phocidae while in water (sleep during apneas both in depth and at the surface, interrupted by brief arousal when emerging for breathing).

[Microarray CGH: principle and use for constitutional disorders]. / La CGH microarray: principe et applications en pathologie constitutionnelle.

Chips technology has allowed to miniaturize process making possible to realize in one step and using the same device a lot of chemical reactions. The application of this technology to molecular cytogenetics resulted in the development of comparative genomic hybridization (CGH) on microarrays technique. Using this technique it is possible to detect very small genetic imbalances anywhere in the genome. Its usefulness has been well documented in cancer and more recently in constitutional disorders. In particular it has been used to detect interstitial and subtelomeric submicroscopic imbalances, to characterize their size at the molecular level or to define the breakpoints of translocation. The challenge today is to transfer this technology in laboratory medicine. Nevertheless this technology remains expensive and the existence of numerous sequence polymorphisms makes its interpretation difficult. Finally its is unlikely that it will make karyotyping obsolete as it does not allow to detect balanced rearrangements which after meiotic segregation might result in genome imbalance in the progeny.

[A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances]. / Evaluation de la puce à ADN SpectralChip pour la détection des déséquilibres chromosomiques observés en pathologie constitutionnelle.

Comparative genomic hybridization on a microarray (microarray-CGH) allows to detect genomic chromosome imbalances. In order to assess its value to detect small chromosome imbalances observed in a clinical setting, using a DNA chip available commercially (Spectral Genomics, Houston, Texas, USA), we studied the DNA of 9 patients carrying a well characterized chromosome imbalance and the DNA of 11 patients where cytogenetic techniques such as high resolution banding karyotype, FISH using subtelomeric probes and comparative genomic hybridization on metaphase chromosomes conclude to a normal and/or balanced karyotype. A result was obtained for 19/20 patients. Failure of hybridization was observed for one patient. For all the other cases the sex of patients was correctly identified. Microarray-CGH was able to correctly diagnose the chromosome imbalance in 6/8 patients carrying such a defect i.e 9/11 imbalances (deletion or duplication) were detected. No chromosome imbalance was observed in 11 patients considered normal and/or balanced using cytogenetic techniques. Several clones were found to be polymorphic and required FISH studies to eliminate duplication or deletion. In conclusion, we think that this commercially available DNA chip might be useful to screen for chromosome imbalances. However, technical improvements are still necessary before using it in a clinical setting. Also, further studies are necessary to assess its sensitivity and specificity.

PMX2B, a new candidate gene for Hirschsprung's disease.

Hirschsprung's (HSCR) disease is a congenital intestinal malformation of the enteric nervous system. It is a multigenic malformation and until now, eight genes have been involved in the etiology of this disease: genes encoding proteins of the RET signaling pathway (RET, GDNF and NTN), genes participating in the endothelin (EDN) type B receptor pathway (EDNRB, EDN3 and ECE-1), the SOX10 gene and the SIP1 gene that is mutated in syndromic forms of HSCR. Mutations of these genes are found in not more than 50-60% of affected individuals. Here, we report on the results of a molecular cytogenetic study performed in a girl who presented with a syndromic short segment HSCR associated with a de novo t(4;8)(p13;p22) translocation. A comparative genomic hybridization (CGH) study found a 4p12p13 deletion. A molecular characterization of this rearrangement showed that the 4p13 deletion was 5 Mb in length and included the paired mesoderm homeobox gene (PMX2B) (MIM 603851), a gene expressed in the human embryonic gut and essential for the development of autonomic neural crest derivatives. The present observation suggests that PMX2B haploinsuffciency might predispose to HSCR.

Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.

We describe a 3(1/2)-year-old girl with psychomotor and mental retardation; dysmorphic features, including a high forehead with bitemporal narrowing; a broad nasal bridge and a broadened nose; downslanting palpebral fissures; abnormal ears; vertebral abnormalities; cardiac defect; genital hypoplasia; and anal abnormalities. The karyotype of our patient (550 bands) was normal. Molecular cytogenetic techniques, including comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), revealed that this girl was a carrier of a de novo derivative chromosome 7 arising from a cryptic t(7;16)(p22.3;q24.1) translocation generating a trisomy 16q24.1-qter and a 7p22.3-pter deletion. FISH with a series of specific chromosome 7p and 16q probes allowed us to delineate the chromosome 7 breakpoint between YAC660G6 (WD7S517) and YAC848A12 (D7S521, D7S31, and WI-4829) and the chromosome 16 breakpoint between BAC457K7 (D42053) and BAC44201 (SGC30711). The comparison of the clinical features of our patient with those of 2 cases of pure terminal 7p deletion and 28 cases of trisomy 16q reported in the literature allowed us to establish the following phenotype-genotype correlation for trisomy of the long arm of chromosome 16: distinctive facies (high/prominent forehead, bitemporal narrowing, periorbital edema in the neonatal period); severe mental retardation; vertebral, genital, and anal abnormalities to 16q24; distal joint contractures and camptodactyly to 16q23; cleft palate and renal anomalies to 16q22; beaked nose and gall bladder agenesis to 16q21; gut malrotation; lung and liver anomalies to 16q13; and behavior abnormalities to band 16q11-q13.

A CGH study of 27 patients with CHARGE association.

CHARGE association is a non-random occurrence of congenital malformations including coloboma, heart disease, choanal atresia, retarded growth and/or retarded development, genital hypoplasia, ear anomalies and/or deafness. The cause of this association remains unknown. Various genetic mechanisms have been proposed, including a contiguous gene syndrome but, so far, no recurrent locus has been identified. To address this question, we decided to perform a comparative genomic hybridization (CGH) study on a cohort of 27 patients with CHARGE association and a normal standard karyotype. We found two chromosomal anomalies: a der(9)t(9;13) derived from a paternal translocation and a der(6)t(4;6) of unknown origin. This suggests that chromosome imbalances may well mimic CHARGE association. Therefore patients with CHARGE association must be carefully tested with classical and molecular cytogenetic techniques to detect a potential chromosome imbalance. It is expected that more stringent diagnostic criteria of CHARGE association could define a more homogeneous group of patients where a single genetic cause might be identified.

Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature.

We report on a young male with mental retardation, slightly upslanting palpebral fissures, strabismus, high-arched palate, retrognathia, and flat feet. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 10p11.2-->p12.2 duplication. Karyotypes of the parents were normal. Comparison of the clinical findings observed in the present patient with those observed in other reported cases with duplication 10p suggest that the presence of high arched/cleft palate and retrognathia may be related to the 10p11.2-->p12.2 duplication. Also, no critical region for the trisomy 10p syndrome has been delimited.

Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.

Segmental aneusomy for small chromosomal regions has been shown to be a common cause of mental retardation and multiple congenital anomalies. A screening method for such chromosome aberrations that are not detected using standard cytogenetic techniques is needed. Recent studies have focused on detection of subtle terminal chromosome aberrations using subtelomeric probes. This approach however excludes significant regions of the genome where submicroscopic rearrangements are also liable to occur. The aim of the present study was to evaluate the efficiency of comparative genomic hybridisation (CGH) for screening of submicroscopic chromosomal rearrangements. CGH was performed in a cohort of 17 patients (14 families) with mental retardation, dysmorphic features and a normal karyotype. Five subtle unbalanced rearrangements were identified in 7 patients. Subsequent FISH studies confirmed these results. Although no interstitial submicroscopic rearrangement was detected in this small series, the study emphasises the value of CGH as a screening approach to detect subtle chromosome rearrangements in mentally retarded patients with dysmorphic features and a normal karyotype.

Chromosome 7q22-q31 duplication: report of a new case and review.

We report on a girl with psychomotor retardation, growth retardation, microcephaly, frontal bossing, large ears, small nose, high arched and narrow palate, short neck, and generalized hirsutism. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 7q22-->q31.3 duplication. Comparison with other reported cases shows some resemblance but insufficient to enable us to establish a definite syndrome with specific clinical manifestations. The importance in better analyzing further cases by new molecular cytogenetics techniques is raised.

Pulmonary lymphangiectasia revisited.

PURPOSE: Pulmonary lymphangiectasia (PL) is a rare, poorly documented disease characterized by abnormal pulmonary lymphatics. Although case reports are published, little is known about survivors past the neonatal period. METHODS: This is a retrospective review of histologically proven PL in fetuses, infants, and long term survivors since 1965. RESULTS: Eleven children (8 boys, 3 girls) and 8 aborted fetuses (7 male, 1 female) were identified. The fetuses weighed 463.4 g (177 to 681 g). Six were aborted between 19 to 24 weeks of gestation for multiple malformations or anencephaly, and 2 spontaneously aborted: one with PL only, the other with twin-twin transfusion syndrome. Clinical PL was diagnosed between 0 and 11 months of age. Six children died (2 neonatal, 4 within 10 days), 5 survived. Two deaths occurred after cardiac surgery. Among survivors, the symptomatology and frequency of admissions diminished over time. Symptoms included progressive respiratory distress, chronic cough, recurrent pneumonia, bronchial asthma, and choking. One child with bilateral chylothorax was later diagnosed with Noonan syndrome; 2 patients had minor cardiac malformations. Rapid deterioration occurred with mild respiratory infections with only supportive treatment available. Chest x-ray showed marked hyperinflation with interstitial infiltrate. CONCLUSIONS: This is the first long-term study of primary PL and will help counsel parents. Although fatal in the neonatal period, survival is possible if diagnosed past the neonatal period and improvement is expected.

Identification of the binding site for a novel class of CCR2b chemokine receptor antagonists: binding to a common chemokine receptor motif within the helical bundle.

Monocyte chemoattracant-1 (MCP-1) stimulates leukocyte chemotaxis to inflammatory sites, such as rheumatoid arthritis, atherosclerosis, and asthma, by use of the MCP-1 receptor, CCR2, a member of the G-protein-coupled seven-transmembrane receptor superfamily. These studies identified a family of antagonists, spiropiperidines. One of the more potent compounds blocks MCP-1 binding to CCR2 with a K(d) of 60 nm, but it is unable to block binding to CXCR1, CCR1, or CCR3. These compounds were effective inhibitors of chemotaxis toward MCP-1 but were very poor inhibitors of CCR1-mediated chemotaxis. The compounds are effective blockers of MCP-1-driven inhibition of adenylate cyclase and MCP-1- and MCP-3-driven cytosolic calcium influx; the compounds are not agonists for these pathways. We showed that glutamate 291 (Glu(291)) of CCR2 is a critical residue for high affinity binding and that this residue contributes little to MCP-1 binding to CCR2. The basic nitrogen present in the spiropiperidine compounds may be the interaction partner for Glu(291), because the basicity of this nitrogen was essential for affinity; furthermore, a different class of antagonists, a class that does not have a basic nitrogen (2-carboxypyrroles), were not affected by mutations of Glu(291). In addition to the CCR2 receptor, spiropiperidine compounds have affinity for several biogenic amine receptors. Receptor models indicate that the acidic residue, Glu(291), from transmembrane-7 of CCR2 is in a position similar to the acidic residue contributed from transmembrane-3 of biogenic amine receptors, which may account for the shared affinity of spiropiperidines for these two receptor classes. The models suggest that the acid-base pair, Glu(291) to piperidine nitrogen, anchors the spiropiperidine compound within the transmembrane ovoid bundle. This binding site may overlap with the space required by MCP-1 during binding and signaling; thus the small molecule ligands act as antagonists. An acidic residue in transmembrane region 7 is found in most chemokine receptors and is rare in other serpentine receptors. The model of the binding site may suggest ways to make new small molecule chemokine receptor antagonists, and it may rationalize the design of more potent and selective antagonists.

Analysis of uncultured amniocytes by comparative genomic hybridization: a prospective prenatal study.

Comparative genomic hybridization (CGH) is a new molecular cytogenetic technique which can detect and map whole and partial aneuploidies throughout a genomic specimen DNA without culturing specimen cells. Thus, CGH may be used as a comprehensive and rapid screening test in prenatal unbalanced chromosomal abnormalities detection. We report the results of the first prospective study to evaluate the use of the CGH technique on uncultured amniocytes. Seventy-one amniotic fluid samples, obtained by transabdominal amniocentesis between the 14th and 35th weeks of gestation, were simultaneously investigated using CGH and conventional cytogenetics. Amniocentesis were done for advanced maternal age (21.1%), fetal ultrasound anomalies (73.3%) and high level of biochemical markers in maternal serum (5.6%). Sixty-six (93%) informative results were generated on a total of 71 analysed specimens. Fifty-nine samples were reported as disomic for all autosomes with a normal sex chromosome constitution using CGH and conventional cytogenetics. Among them, three pericentromeric chromosomal inversions were undetected by CGH analysis. Seven numerical aberrations were characterized, including one case of trisomy 13, one case of trisomy 18 and five cases of trisomy 21. Advantages and limitations of CGH for a rapid prenatal screening of unbalanced chromosomal aberrations are discussed.

Improvement of disseminated lymphangiomatosis with recombinant interferon therapy.

Disseminated lymphangiomatosis is a rare disorder with a poor prognosis. We present a case involving a 3-year-old boy who presented with pulmonary infiltrates, multiple lytic lesions of the ribcage, and small cystic lesions in the spleen. Open-lung and bone biopsies revealed disseminated lymphangiomatosis. Significant clinical and radiologic improvement were observed and persisted after 28 months of treatment with recombinant interferon alpha-2b (IFN alpha-2b). No significant toxicity has been observed.

Cytogenetic analysis from DNA by comparative genomic hybridization.

Comparative genomic hybridization (CGH) is a modified in situ hybridization technique which allows detection and mapping of DNA sequence copy differences between two genomes in a single experiment. In CGH analysis, two differentially labelled genomic DNA (study and reference) are co-hybridized to normal metaphase spreads. Chromosomal locations of copy number changes in the DNA segments of the study genome are revealed by a variable fluorescence intensity ratio along each target chromosome. Since its development, CGH has been applied mostly as a research tool in the field of cancer cytogenetics to identify genetic changes in many previously unknown regions. CGH may also have a role in clinical cytogenetics for detection and identification of unbalanced chromosomal abnormalities.