Search

A 3 1/2-year-old female with clinical features of Down's syndrome was found to have extra chromosome material on the long arm of one of the X chromosomes, 46,XXq+. The parental karyotypes were normal. In the light of the clinical features of the proband an the banding characteristics of the extra chromosome material, the patient was thought to have a de novo (X;21) translocation. The results of late replication studies with BUdR and enzyme superoxide dismutase (SOD) assays in the proband suggest that: (1) the presumed (X;21) translocation chromosome was the late replicating chromosome; (2) the spread of inactivation extended from the Xq segment of the translocation chromosome to the proximal part of the segment derived from chromosome 21, leading to the inactivation of the autosomal gene for enzyme SOD; (3) the remaining distal portion of the (X;21) translocation chromosome, a part of a segment presumably derived from chromosome 21, was spared from the spread of inactivation so that this part was still genetically active and responsible for the Down's phenotype; (4) therefore, the main determinants for a Down's phenotype may be located more distally (q22.2 or q22.3 or both) than the SOD gene (q22.1) on the long arm of chromosome 21. [ABSTRACT FROM PUBLISHER]

Extra chromosomal material on the long arm of chromosome 15 was found in an infant with growth retardation, dysmorphic features, skeletal abnormalities, and congenital heart defect. The phenotypically normal mother had a balanced translocation between the short arm of chromosome 8 and the long arm of chromosome 15: 46,XX,t(8:15)(p12:q25). Thus, the patient was partially trisomic for the short arm of chromosome 8 (p12 leads to pter). Comparison of the clinical data obtained from patients with partial trisomy of the short arm of chromosome 8 with those of full trisomy 8 (Warkany's syndrome) suggests that most of the clinical features of Warkany's syndrome require excess material from both the short and long arm of chromosome 8. [ABSTRACT FROM PUBLISHER]

Background: Seafarers' diets are often high in fat, sugar and calories, thus contributing to an increased risk of obesity, metabolic syndrome and cardiovascular disease. The multitude of obstacles to healthy eating in the on-board environment on merchant ships makes it essential to find new approaches for health promotion. This study explored seafarers' attitudes, the status quo of support measures and chances to improve nutrition on merchant ships from the perspective of crews and cooks., Methods: In the course of the EU-funded project "e-healthy ship", European and Southeast Asian seafarers (N = 810) and ship cooks (N = 62) were examined by using two questionnaires on 68 ships of two German shipping companies., Results: Almost all seafarers (98.8%) considered a healthy diet important for their well-being and the majority of seafarers reported being open-minded about changing their eating habits (88.4%). However, European seafarers were less likely to respond that they are willing to eat less meat [OR 0.11; 95%CI (0.07-0.17); p < .001], more vegetables [OR 0.10; 95%CI (0.02-0.49); p = .005] and more fruits [OR 0.11; 95%CI (0.02-0.61); p = .011] than their Southeast Asian colleagues. On the one hand, 82.3% of the ship cooks reported having taken part in at least one cooking course organized by their employer (1: 33.9%, 2: 25.8%, 3: 14.5%, 4 or more: 8.1%), on the other hand, slightly above half stated that the last of these courses had taken place more than 2 years ago. Furthermore, the ship cooks showed a positive attitude towards the use of a tablet-based digital platform that supports the ship cooks in daily and complex tasks (> 85% agreement)., Conclusions: To improve nutrition on board merchant ships, various parameters need to be adjusted, such as ensuring a demand-oriented food supply on board or supporting seafarers' healthy food choices through target group-specific nutrition education. Ship cooks would be able to play a crucial role if they receive support. The development of a tablet-based digital platform that supports the ship cooks in their daily tasks, offers training and empowers them to implement health-promoting measures themselves seems to be an accepted and promising approach., (© 2024. The Author(s).)

As seafarers are assumed to have an increased risk profile for sleep-related breathing disorders, this cross-sectional observational study measured (a) the feasibility and quality of polysomnography (PSG) on board merchant ships, (b) sleep macro- and microarchitecture, (c) sleep-related breathing disorders, such as obstructive sleep apnea (OSA), using the apnea-hypopnea index (AHI), and (d) subjective and objective sleepiness using the Epworth Sleepiness Scale (ESS) and pupillometry. Measurements were carried out on two container ships and a bulk carrier. A total of 19 out of 73 male seafarers participated. The PSG's signal qualities and impedances were comparable to those in a sleep laboratory without unusual artifacts. Compared to the normal population, seafarers had a lower total sleep time, a shift of deep sleep phases in favor of light sleep phases as well as an increased arousal index. Additionally, 73.7% of the seafarers were diagnosed with at least mild OSA (AHI ≥ 5) and 15.8% with severe OSA (AHI ≥ 30). In general, seafarers slept in the supine position with a remarkable frequency of breathing cessations. A total of 61.1% of the seafarers had increased subjective daytime sleepiness (ESS > 5). Pupillometry results for objective sleepiness revealed a mean relative pupillary unrest index (rPUI) of 1.2 (SD 0.7) in both occupational groups. In addition, significantly poorer objective sleep quality was found among the watchkeepers. A need for action with regard to poor sleep quality and daytime sleepiness of seafarers on board is indicated. A slightly increased prevalence of OSA among seafarers is likely.

Numerous health hazards characterize the profession of a seafarer. The job-specific environment may affect the crews' well-being and mental health. The options for health promotion are limited, as seafarers are isolated for long periods and are a difficult-to-reach collective. A digital app-based health management system might offer a promising approach in this regard. This study aims to identify seafarers' technical competencies as a prerequisite for possible health app-based health promotion. A total of 976 seafarers (response rate 75.1%) on 65 ships of a Hamburg shipping company completed the standardized questionnaire MDPQ-16 (Mobile Device Proficiency Questionnaire) that assesses the IT competence in 8 different sub-scales. The results were stratified in respect to occupational groups aboard as well as compared to a reference collective ashore. The seafarers had an MDPQ-16 sum-score of 4.40 (SD 0.84), scoring 0.21 points higher than the land-based reference collective. Significant differences were observed between the ratings and officers in almost every sub-scale and item of the MDPQ-16. The highest sum-score was held by the nautical officers with 4.71. Greater differences between officers and ratings were observed in sub-scales related to rather complex tasks. The seafarers demonstrated a high level of IT proficiency, even surpassing the land-based sample, suggesting that their technical competence is adequate for app-based health promotion. In view of the higher scores of officers, the selection of health apps has to be tailored to the seafarers' different levels of mobile competence in order to maximize the improvement in mental health and well-being. Further research is needed to determine seafarers' needs and interests., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Since seafarers are known to be exposed to numerous job-related stress factors that can cause fatigue, sleepiness, and disturbed sleep behaviour, the aim of this review was to provide an overview of the subjective and objective measurement methods of these strains. Using a systematic review, 166 studies were identified within the period of January 2010 to December 2020 using the PubMed database. Of the 21 studies selected, 13 used both subjective and objective measurement methods. Six studies used only subjective and two studies only objective methods. For subjective assessment, 12 different questionnaires could be identified as well as activity and sleeping logs. Actigraphy and reaction time tests (RTT) were the most common objective methods. In single cases, electrooculography (EOG), pupillometry and ambulatory polysomnography (PSG) were used. Measurement-related limitations due to vessel-related impacts were less often reported than expected. No restrictions of daily routines on board were described, and only single-measurement disturbances due to ship movements were mentioned. The present literature review reveals that there are various routines to measure fatigue, sleepiness, and sleep behaviour on board. A combination of subjective and objective methods often appears to be beneficial. The frequent use of actigraphy and RTT on board suggests good feasibility and reliable measurements with these methods. The use of ambulatory PSG in maritime-like contexts suggests that this method would also be feasible on board.

Background: Food choices on board merchant ships are limited and seafarers repeatedly described as being at high risk of developing overweight compared to the general population. Up to date, research has not distinguished whether seafarers gain weight on board or at home and whether eating habits differ in both settings., Methods: As part of the e-healthy ship project, cross-sectional data were collected in two different measurements. In the first investigation on board of three merchant ships of German shipping companies, differences in eating behaviour at home compared to on board ships were assessed for 18 Burmese, 26 Filipino and 20 European seafarers. In a second study, BMI, weight development and location of body weight change of 543 Filipino and 277 European seafarers were examined using an online questionnaire on 68 ships., Results: According to the board examinations, foods and beverages consumed on merchant ships varied widely from seafarers' diets in their home country. Burmese, Filipino and European seafarers equally reported to consume more fruit (z = 4.95, p < .001, r = .62) and vegetables (z = 6.21, p < .001, r = .79), but less coke (z = -5.00, p < .001, r = .76) when at home. Furthermore, culturally different changes were found across all other foods and beverages. The online questionnaire revealed that 45.8% of seafarers were overweight (55.4% Europeans vs. 40.8% Filipinos, p < .001) and 9.8% obese. Moreover, a higher percentage of Europeans compared to Filipinos reported weight gain over the course of their professional career (50.2% vs. 40.7%, p = .007). A sub-analysis of seafarers with weight gain found that more Europeans than Filipinos gained weight at home (43.9% vs. 23.1%, p < .001)., Conclusions: Both, home and working on board merchant ships, represent very different living environments which may affect seafarers' lifestyle and eating habits in various ways and thus could favour or inhibit weight gain. From our results, it appears that the body weight and eating habits of Asian seafarers in particular are adversely affected by the working and living conditions on board. Further prospective studies are required to prove this hypothesis., (© 2021. The Author(s).)

Background: A pandemic is a particular medical challenge for seafarers traveling without a physician on board. At the same time the global fight against the coronavirus disease 2019 (COVID-19) pandemic has to rely on resilient merchant shipping in order to maintain the flow of goods. For infection prevention and management on board, those responsible need a portfolio of protective measures that can be used on ships., Research Questions: The overview examines the question of which technical, organizational and personal protective measures can be used on a merchant ship in order to prevent or cope with COVID-19 outbreaks on board., Material and Methods: Guidelines, information and occupational health and safety standards from the maritime setting, but also from many other work areas, were examined in order to facilitate a variable use by those responsible (e.g. according to ship size, equipment, weather, operating status, work requirements, contact with external persons, medical problems)., Results: A handout was compiled that contains specific technical, organizational and personal protective measures for crews, explaining their use in a maritime context. Possible safety barriers, options to combine them and an appropriate timing are explained in a target group-oriented manner., Conclusion: A great variety of protective measures derived from occupational medical literature and the experience of the port medical service in Hamburg can also be implemented on the high seas. In pandemic times, merchant ships should be equipped with foresight (e.g. with rapid diagnostic tests) and those responsible should be authorized to use effective infection control measures adapted to the situation on board. Seafarers should receive priority vaccination offers regardless of their national origin., (© The Author(s) 2021.)

Most drugs acting on G-protein-coupled receptors target the orthosteric binding pocket where the native hormone or neurotransmitter binds. There is much interest in finding allosteric ligands for these targets because they modulate physiologic signaling and promise to be more selective than orthosteric ligands. Here we describe a newly developed allosteric modulator of the β 2 -adrenergic receptor (β 2 AR), AS408, that binds to the membrane-facing surface of transmembrane segments 3 and 5, as revealed by X-ray crystallography. AS408 disrupts a water-mediated polar network involving E122 3.41 and the backbone carbonyls of V206 5.45 and S207 5.46 . The AS408 binding site is adjacent to a previously identified molecular switch for β 2 AR activation formed by I 3.40 , P 5.50 and F 6.44 . The structure reveals how AS408 stabilizes the inactive conformation of this switch, thereby acting as a negative allosteric modulator for agonists and positive allosteric modulator for inverse agonists.

Controlling the charges and spins of molecules lies at the heart of spintronics. A photoswitchable molecule consisting of two independent spins separated by a photoswitchable moiety was designed in the form of new ligand H 4 L, which features a dithienylethene photochromic unit and two lateral coordinating moieties, and yields molecules with [MM⋅⋅⋅MM] topology. Compounds [M 4 L 2 (py) 6 ] (M=Cu, 1; Co, 2; Ni, 3; Zn, 4) were prepared and studied by single-crystal X-ray diffraction (SCXRD). Different metal centers can be selectively distributed among the two chemically distinct sites of the ligand, and this enables the preparation of many double-spin systems. Heterometallic [MM'⋅⋅⋅M'M] analogues with formulas [Cu 2 Ni 2 L 2 (py) 6 ] (5), [Co 2 Ni 2 L 2 (py) 6 ] (6), [Co 2 Cu 2 L 2 (py) 6 ] (7), [Cu 2 Zn 2 L 2 (py) 6 ] (8), and [Ni 2 Zn 2 L 2 (py) 6 ] (9) were prepared and analyzed by SCXRD. Their composition was established unambiguously. All complexes exhibit two weakly interacting [MM'] moieties, some of which embody two-level quantum systems. Compounds 5 and 8 each exhibit a pair of weakly coupled S=1/2 spins that show quantum coherence in pulsed Q-band EPR spectroscopy, as required for quantum computing, with good phase memory times (T M =3.59 and 6.03 μs at 7 K). Reversible photoswitching of all the molecules was confirmed in solution. DFT calculations on 5 indicate that the interaction between the two spins of the molecule can be switched on and off on photocyclization., (© 2017 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.)

By means of a formal structural hybridization of the antipsychotic drug aripiprazole and the heterocyclic catecholamine surrogates present in the β 2 -adrenoceptor agonists procaterol and BI-167107 (4), we designed and synthesized a collection of novel hydroxy-substituted heteroarylpiperazines and heteroarylhomopiperazines with high dopamine D 2 receptor (D 2 R) affinity. In contrast to the weak agonistic behavior of aripiprazole, these ligands are capable of effectively mimicking those interactions of dopamine and the D 2 R that are crucial for an active state, leading to the recruitment of β-arrestin-2. Interestingly, some ligands show considerably lower intrinsic activity in guanine nucleotide exchange experiments at D 2 R and consequently represent biased agonists favoring β-arrestin-2 recruitment over canonical G protein activation. The ligands' agonistic properties are substantially driven by the presence of an endocyclic H-bond donor.

Morphine is an alkaloid from the opium poppy used to treat pain. The potentially lethal side effects of morphine and related opioids-which include fatal respiratory depression-are thought to be mediated by μ-opioid-receptor (μOR) signalling through the β-arrestin pathway or by actions at other receptors. Conversely, G-protein μOR signalling is thought to confer analgesia. Here we computationally dock over 3 million molecules against the μOR structure and identify new scaffolds unrelated to known opioids. Structure-based optimization yields PZM21-a potent G i activator with exceptional selectivity for μOR and minimal β-arrestin-2 recruitment. Unlike morphine, PZM21 is more efficacious for the affective component of analgesia versus the reflexive component and is devoid of both respiratory depression and morphine-like reinforcing activity in mice at equi-analgesic doses. PZM21 thus serves as both a probe to disentangle μOR signalling and a therapeutic lead that is devoid of many of the side effects of current opioids., Competing Interests: The authors declare competing financial interests: details are available in the online version of the paper. Readers are welcome to comment on the online version of the paper.

The successful development of a quantum computer would change the world, and current internet encryption methods would cease to function. However, no working quantum computer that even begins to rival conventional computers has been developed yet, which is due to the lack of suitable quantum bits. A key characteristic of a quantum bit is the coherence time. Transition metal complexes are very promising quantum bits, owing to their facile surface deposition and their chemical tunability. However, reported quantum coherence times have been unimpressive. Here we report very long quantum coherence times for a transition metal complex of 68 μs at low temperature (qubit figure of merit QM=3,400) and 1 μs at room temperature, much higher than previously reported values for such systems. We show that this achievement is because of the rigidity of the lattice as well as removal of nuclear spins from the vicinity of the magnetic ion.

Study objective was to investigate the extent of lead exposure via tap water in Hamburg and the relevance of preventive strategies. Two hundred and forty-eight non-smoking young women participated in the cross-sectional study program and 52 women completed the intervention program. In the cross-sectional study program most women (N = 178) didn't know anything about the material of the plumbing system at their homes. Participants with lead in the tap water above the detection limit of 5 microg/l (N = 142) showed significantly higher blood lead levels (median 31 microg/l) compared to those with no detectable lead in the tap water (N = 106; median blood lead 24 microg/l, p < = 0.001). There is a close correlation between the average lead concentration in the tap water and blood lead concentrations (N = 142 value pairs, Spearman's rho 0.43, p < = 0.0001). In the intervention program, the women were asked to minimize exposure by flushing water or to exclude it by consuming bottled water. Intervention lowered blood lead-level significantly (median decrease of 11 microg/l, p < = 0.001). "Minimizers" could lower their blood lead levels by about 21% of the initial value, "excluders" by about 37% (ns, p < = 0.17). The majority judged neither minimizing nor excluding tap water as practicable health preventive behaviour pattern in the long run. Lead in tap water stands for an avoidable surplus exposure. These results underline the relevance of health care preventive measures for the most sensitive groups.

As a further step towards quality management in environmental medicine the Hamburg Association of Panel Physicians and the Hamburg Department of Labour, Health and Welfare developed a consensus paper concerning the handling of indoor related problems. It focuses on the cooperation between environmental physicians and engineers. A critical point in the process of environmental health risk assessment is the selection of either human biomonitoring or environmental monitoring. Further well-known problems are quality of measures and process documentation. Accurate, reliable measures of individual exposure are an essential need for physicians who have to judge the potential impact of environmental contaminants on human health. The approach proposed in this paper was chosen to enable the patient and the physician to benefit from the special knowledge of environmental engineers on indoor related problems. The procedure and criteria might help to reduce misclassifications of diseases and the amount of measures with no medical relevance and to establish scientifically valid associations between health outcomes and exposures to environmental contaminants.

Luborskys method of the Core Conflictual Relationship Theme is introduced as a reliable tool for studying structural aspects of transference. The change of the components of the CCRT induced by a short term psychotherapy is described and discussed in terms of its clinical significance.