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Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome.

Laurence-Moon-Bardet-Biedl syndome is an autosomal recessive condition characterized by retinal dystrophy, obesity, mental retardation, distal limb anomaly, hypogonadism, and renal dysfunction. The symptoms vary among families and even among affected siblings. Certain clinical signs have been used to identify subgroups of patients with this complex condition. Laurence-Moon syndrome as a distinct entity is rare and features paraplegia in the absence of polydactyly or obesity. Bardet-Biedl syndrome is characterized by distal limb anomaly, obesity, and renal involvement, but neurologic symptoms are very unusual. We report a patient exhibiting characteristic features of Bardet-Biedl syndrome in addition to cerebellar vermis hypoplasia and mega cisterna magna.

Bardet-Biedl Syndrome↗

ExoMars alternative escape trajectories with Soyuz/Fregat.

The objectives of ExoMars are to inject an orbiter around Mars and to land a rover on the surface to look for possible traces of life. During the first stages of the feasibility analysis, the mass margin of the orbiter was very small for a direct transfer in the Soyuz/Fregat scenario. An analysis of the combined use of lunar swing-bys and the Sun gravity gradient is performed with WESBOT in order to obtain alternative trajectories for injecting higher mass into Mars transfer. WESBOT is a GMV tool to find WSB transfers to the Moon and to design escape trajectories by performing several swing-bys with the Moon and the Earth. The weak stability boundary has been successfully used for lunar transfers (Hiten, SMART-1). For escape trajectories from the Earth, the potential mass gains depend on the escape direction and the departure date to make a series of gravity assists with the help of the Sun gravity gradient to save DeltaV. Several strategies are studied depending on the number and order of swing-bys. The departing conditions (date and orbit) are optimized but the arrival date to Mars is maintained because of mission requirements. For each type of strategy, a systematic search of initial guess trajectories is performed. The initial guess trajectory is made up of patched conics arcs and multiple shooting arcs when necessary. The optimal trajectories for the various scenarios are presented and show different morphologies. An analysis in terms of applicability to the ExoMars mission is included.

Journal Article↗

Low energy trajectories and chaos: applications to astrodynamics and dynamical astronomy.

In recent years the application of methods of chaos theory to astrodynamics has produced new revolutionary types of low energy trajectories in space with important applications. They have uncovered new routes to the Moon demonstrated by various spacecraft--the Japan Hiten in 1991 and the European SMART-1 in 2004. These applications have also played an important role in a new theory on the origin of the Moon.

Journal Article↗

The effects of different application techniques and orifices on the amount of dentifrice.

The purpose of this study was to evaluate three different methods (ST: Standart technique; PS: Pea-size; TT: Transverse technique) for dentifrice use in children between 5 to 7 years of age, as well as to compare the amount of dentifrice dispensed by using tubes with different orifices (moon or round shaped). One hundred children who dispensed the dentifrice themselves were asked to apply the quantity of dentifrice they usually used (ST or TT) (Phase-I). In Phase-II, they were instructed to apply a pea-size amount (PS) and finally they were demonstrated to use the transverse technique (TT) in Phase-III. Statistical analysis was obtained by using Anova and t-test. As a result, most of the children (82 patient) preferred to use ST rather than TT (18 patient). A decrease in the amount was obtained with both of the shaped orifices after the instruction of PS or demonstration of TT (p< 0.05). It was observed that the amount of dentifrice dispensed decreased generally when a moon shaped orifice was used.

Cariostatic Agents↗

The registered distance of the celestial sphere: some historical cross-cultural data.

Estimates of the diameters of the sun and moon expressed in centimetres have been reported by several authors in the past. These estimates imply that the sizes of the sun and moon are perceived as if these bodies are only some tens of metres distant. In this study five units of length that were used by ancient astronomers to estimate arcs on the celestial sphere were investigated. The purpose was to determine whether the lengths and angles represented by these units imply a specific registered distance of the star sphere. The sizes of the Babylonian cubit, Arab fitr and shibr, Greek eclipse digit, and Chinese chang support the conclusion that the registered distance of the stars was about 10 to 40 metres in these four cultures over the last two millennia.

Astronomy↗

Forest malaria in Bangladesh. II. Transmission by Anopheles dirus.

Seasonal, holoendemic malaria transmission in a small, isolated forest community was studied by doing outdoor and indoor all-night man-biting catches over 21 consecutive months. More than 3.8% of Anopheles dirus (=An. balabacensis s.l.), the most frequently caught anopheline, were infective. One An. annularis was also infective. Transmission occurred only during the 7-month monsoon. In the absence of DDT, An. dirus bit with equal frequency indoors and outdoors. When DDT was present in dwellings, fewer females fed indoors and they fed earlier. Feeding pattern was influenced by the phase of the moon: peak outdoors feeding was sharpest and earliest at first quarter and came later as the moon rose later. An average 31% of biting An. dirus lived long enough to reach infectivity of P. falciparum. Although fewer than 10 females fed per man per night, a resident could have received more than 100 infective bites in 2 years. Correlation between actual and calculated rates of gametocytemia were poorest in months when calculated survival rates of mosquitoes were most suspect.

Animals↗

The Human Genome Project: how do we protect Australians?

It is the moon landing of the nineties: the ambitious Human Genome Project--identifying the up to 100,000 genes that make up human DNA and the sequences of the three billion base-pairs that comprise the human genome. However, unlike the moon landing, the effects of the genome project will have a fundamental impact on the way we see ourselves and each other.

Australia↗

The planetary positions and relationships at the dates of birth of a cohort of Nigerian schizophrenics.

Some astrological hypotheses related to predisposition to severe mental illness were tested by analysing the zodiacal signs, the interactions between planetary qualities (aspects), and the occurrence of full and new moon dates, on the dates of birth of 221 schizophrenics, compared with 112 normal subjects. The sun signs of the schizophrenics were significantly more likely to be in the signs associated with introversion, while those of the control population were significantly more likely to be in the outgoing signs. A significantly higher proportion of schizophrenics had their Mars (i.e., symbol of aggressiveness) in the outgoing signs than the normal population. A significantly higher proportion of control subjects fulfilled operational criteria for adequacy of number of aspects between the sun and the other planets. The tendency for a higher proportion of schizophrenics to have "difficult" aspects just failed to reach significance. A significantly higher proportion of control subjects had aspects between the sun and mars; and also a significantly higher proportion of control subjects had "soft" (helpful) aspects between the sun and mars. These findings are in keeping with the well-known oddity of schizophrenia (schiz = split; phren = mind); such that, a group which collectively is characterised by an "introverted" self (i.e. sun sign), has a coexisting aggressive tendency (i.e. strong mars) and poor integration between the elements of the psyche and the self (i.e. inadequacy of aspects between Sun and other planets). However, the findings give only partial support to key astrological postulates because there was a non-significant trend for more schizophrenics to be born in "water" signs and on full moon dates.

Astrology↗

Preparing for Mars: the physiologic and medical challenges.

As the twentieth century closes, retrospectives cite the Apollo moon missions as one of the important events of the past 100 years. A trip to Mars, however, would be even more challenging and significant. A round-trip Mars journey would require nearly three years away from Earth, a significant leap in complexity compared to the two week long Moon trips or the record-breaking fourteen-month flight on Mir. What would be the physiologic and medical challenges of a Mars flight? Two key areas of physiology present the greatest potential problems--calcium metabolism and radiation exposure. Data from Mir missions show that bone loss continues in space despite an aggressive countermeasure program. Average losses were 0.35% per month, but some load bearing areas lost >1% per month. A 1% loss rate, if it continued unabated for 30 months, could produce osteoporosis. Smaller losses could still increase fracture risk. Some bone loss can be well tolerated, particularly if the bone can be regained after the mission. But the effectiveness of post-flight rehabilitation to restore the density and quality of bone after spaceflight is not well known. Bone loss estimates are based on continuous weightlessness exposure, but this is not a requirement for a Mars trip. Most of the time on a Mars trip will be spent in the 1/3 Earth's gravity environment on Mars, and either intermittent or continuous artificial gravity can be provided for the transit between planets (although at an engineering cost). The dosing of the gravity exposure (e.g. the level and duration), however, has not been established. Radiation protection also requires a balance between engineering cost and human health. Excessive shielding could add billions of dollars to the cost of a mission. Trips in interplanetary space, however, expose the crew to heavy high-energy particles from cosmic rays (HZE particles), which have a high linear energy transfer. This high energy leads to significant biological damage (e.g. chromosomal aberrations, cancer induction). A recent report from the Committee on Space Biology and Medicine notes that only one systematic study of cancer induction from high-energy particles has been conducted (using the mouse Harderian gland). Predictions of cancer risk and acceptable radiation exposure in space are extrapolated from minimal data. Other areas of physiology also present problems, such as muscle loss, cardiovascular deconditioning, and vestibular adaptation. Despite all the issues, however, a focussed, aggressive research program that uses the resources of the International Space Station should pave the way for mankind's greatest adventure--a trip to Mars.

Humans↗

[Functional visual explorations of Bardet-Biedl syndrome. A study of three cases].

Laurence-Moon syndrome, which is very rare, and Bardet-Biedl syndrome, which is more frequent are now well-recognized as two distinct entities in pediatric neurology. Bardet-Biedl syndrome includes a number of common clinical signs it shares with Laurence-Moon syndrome but also with other syndromes, particularly Alströme syndrome. These signs are retinitis pigmentosa, mental retardation, obesity, and hypogonadism. Ophthalmological and electrophysiological examinations are essential for confirmation and correct diagnosis of Bardet-Biedl syndrome. We present three case histories. Our third case illustrates the possibility of below normal yet discernable electroretinogram amplitudes which do not infirm the diagnosis of Bardet-Biedl syndrome.

Bardet-Biedl Syndrome↗

Prevention of bone loss and muscle atrophy during manned space flight.

This paper reviews the biomedical literature concerning human adaptation to nonterrestrial environments, and focuses on the definition of practical countermeasures necessary for long-term survival on the Moon, Mars and during long-term space missions and exploration. Of particular importance is the development of clinically relevant countermeasures for prevention of pathophysiological changes in the musculoskeletal and cardiopulmonary systems under these conditions. The countermeasures which are proposed are based upon a combination of biomechanical and theoretical analyses. The biomechanical analyses are based upon clinical measurements of human skeletal density changes associated with weight lifting as well as clinical studies of human strength and fitness currently being conducted using an isoinertial trunk dynamometer. The theoretical analysis stems from a mathematical model for bone loss in altered gravity environments that we have begun to develop. These analyses provide guidelines for the development of practical therapeutic treatments (exercise, artificial gravity) designed to minimize musculoskeletal deconditioning associated with less than Earth gravity environments. Our findings suggest that very intensive exercise, which impose high loads on the musculoskeletal system for brief periods, may be more efficient in preserving bone and skeletal muscle conditioning within "safe" limits for longer periods than low intensity activities such as treadmill running and bicycling. A 1/6 to 1/7-g gravitational environment is predicted to be sufficient to preserve bone strength above the fracture risk level. Basic biomedical support of manned space missions, Moon and Mars bases should include routine assessment of skeletal density, muscle strength, cardiac output and total energy expenditure. This information can be used to periodically re-evaluate exercise programs and or artificial gravity requirements for crew members.

Adaptation, Physiological↗

Origin of tektites: an alternative to terrestrial impact theory.

The Terrestrial Impact Theory (TIT) has won a complete victory over O'Keefe's lunar volcanic theory, but only because the Moon appears to be the wrong place for tektites. Indeed, the TIT ignores strong evidence of their volcanic origin--far from the Moon. The Extraterrestrial Volcanic Comet Theory proposes an alternative to both of these theories. Major arguments for an extraterrestrial tektite source are paradoxical: a great time difference between tektite formation and their arrival on Earth, and also forms, plastic deformations, ice collision marks, vacuum voids, etc. indicating specific conditions of tektite formation such as low gravitational field, lack of atmosphere, interaction of hot plastic tektites with ice, etc. Major evidence of volcanic origin includes: close analogy between shaped tektites and small volcanic bombs, and between layered tektites and lava or tuff-lava flows or huge bombs; analogy between flanged tektites and volcanic bombs ablated by gasjets: long-time, multistage formation of some tektites that corresponds to wide variations in their radiometric ages; well-ordered long compositional trends (series) typical of magmatic differentiation; different compositional tektite families (subseries) comparable to different stages (phases) of the volcanic process. Thus, different types of volcanic eruptions under extraterrestrial conditions could be reconstructed based on tektite properties. It is presumed that tektites were transported to the Earth by specific eruptive comets, i.e. in the form of ice-tektite agglomerates launched into space by volcanic explosion. Major arguments favouring comets include: ice collision marks and imprints as mentioned above; linear band-like sculpture of the Australasian strewn field as evidence of comet fragmentation and slope or skipping trajectory of separate fragments; compact coincidence of the Zhamanshin impact crater with small tektite strewn field as evidence of steep trajectory of separate comet fragments that disintegrated while entering the atmosphere. The comet-Earth collision under consideration happened 10,000 years ago and caused the global catastrophe marked by the sharp Pleistocene-Holocene boundary, i.e. by abrupt climatic changes, the end of glaciation, mass extinction, etc. This event can be compared with the "dinosaur" catastrophe at the K/T boundary 65 Ma, which was also accompanied by tektite fall.

Earth, Planet↗

Skin care in the space environment.

Envisioned in the 21st century is the United States Space Program's establishment of a permanent human presence in a space station and a moon colony. Mid-21st century humans will take part in an exploratory trip to Mars from the moon (Collins, 1988; Ride, 1987). Fundamental to achieving these space goals will be human health care management. Skin, the largest human organ, will require care. The purpose of this article is to provide an understanding of skin care in the space environment.

Humans↗

[Meteorologic conditions and esophageal varices rupture].

BACKGROUND: While meteorologic conditions are thought to be related to the incidence of certain cardiac and cerebrovascular events, very little information is available concerning the onset of variceal bleeding. We undertook this study to determine whether there is any correlation between esophageal variceal hemorrhage and several meteorologic and astronomic parameters. METHODS: Sixty-seven episodes of bleeding from ruptured esophageal varices observed in 52 patients from southern Tunisia during a 7-Year period were studied retrospectively. All patients underwent endoscopic examination within 24 hours of admission. The date of the event (variceal rupture) was considered--if no stigmates of active bleeding were found at endoscopy--as the day of occurrence of the hematemesis and the day preceding melena. Meteorologic readings (11 parameters) plus moon-cycle, circadian and seasonal distribution of the 67 days of variceal bleeding in comparison with a control period of days randomly selected among 134 days without rupture. RESULTS: No relationship was found between variceal bleeding and mean atmospheric pressure, daily hours of sunshine, nebulosity, direction and velocity of wind and mean humidity. On the contrary, a significant correlation was observed with the mean temperature (18 degrees C vs 21.16 degrees C; p=0003), rainfall (p<0.01) and stormy weather (p=0.008), the latter being the only parameter retained as an independent factor at multivariate analysis: OR=13.37 (95% CI=1.5-118.5). Furthermore, a negative correlation was found with full moon but only at univariate analysis (p=0.04). The seasonal distribution of variceal bleeding episodes showed the highest percentage during winter with a significant variation at multivariate analysis: OR=3.2 (95% IC=1.6-6.54). Occurrence of variceal bleeding also showed a circadian variation with the higher prevalence night between 6 and 0 PM (p<0.001).

Adult↗

A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.

PURPOSE: To identify the genetic defect in an autosomal dominant congenital cataract family, having 15 members in three generations, affected with bilateral cataract that gave the appearance of "full moon" with Y-sutural opacities. METHODS: A detailed family history and clinical data were recorded. A genome-wide scan by two point linkage analysis using nearly 400 microsatellite markers in combination with multipoint lod score and haplotype analysis was carried out. Mutation screening was performed in the candidate gene by bidirectional sequencing of amplified products. RESULTS: A maximum two point lod score of 5.45 at theta=0.00 was obtained with marker D1S534. Haplotype analysis placed the cataract locus to a 14.1 cM region between D1S221 and D1S498, in close proximity to the gene for the gap junction channel protein connexin 50 (GJA8) at 1q21. Mutation screening in GJA8 identified a novel G>C transversion at nucleotide position c.235. This nucleotide change resulted in the substitution of highly conserved valine by leucine at codon 79 (V79L). This nucleotide substitution was neither seen in any unaffected member of the family nor in 180 unrelated control subjects (360 chromosomes) from same ethnic background tested by sequence analysis of GJA8. CONCLUSIONS: The present study describes the mapping of a locus for congenital cataract that appeared like "full moon" with Y-sutural opacities at 1q21 and identifies a previously unreported mutation in GJA8. These findings thus expand the mutation spectrum of GJA8.

Asian People↗

Clinical features of severe malnutrition at the pediatric ward of Dr. Pirngadi Hospital Medan.

A retrospective study on severe malnutrition concerning children hospitalized at the Pediatric ward of Dr. Pirngadi Hospital, Medan from January 1 to December 31, 1988 was conducted. Patients less than five years old were included in this study. The purpose of this study was to know the incidence of severe malnutrition, its symptoms and signs, the immunization status, feeding pattern and socio-economic factors. Out of the 3370 hospitalized patients, 2453 (72.78%) were children under five years old. Of these, 312 (12%) suffered from severe malnutrition. It consisted of marasmus 131 (41.9%), marasmic kwashiorkor 94 (30.1%) and kwashiorkor 87 (27.8%). The highest incidence was found in the age group of 0-2 years (58%). Clinical manifestation of marasmus were old man face (131 or 100%), muscular hypotrophy (118 or 71.9%) and decreased subcutaneous fat (116 or 71.1%) in marasmic kwashiorkor children 46 or 50% had their hair easily picked out, 45 or 46.3% showed hyperpigmentation and 48 or 52% had pretibial edema in the kwashiorkor group 29 or 63% had moon face, 52 or 60.4% showed crazy pavement dermatosis, 77 or 51.3% had hepatomegaly and 87 or 48% pretebial edema. Moon face was seen in 29 (63%), crazy Pavement Dermatosis in 52 (60.4%), hepatomegaly in 77 (51.3%), and pretebial edema in 87 (48%) of kwashiorkor cases. The accompanying diseases were mostly diarrhea (95%) and bronchopneumonia (22%). Immunization status showed that BCG comprised 50.6%, while DPT III and OPV III in 13.7% and 10.5% respectively and measles only 0.64%. More than half (59.6%) of them were breast-fed up to 6 months.(ABSTRACT TRUNCATED AT 250 WORDS)

Child, Preschool↗

Two cases of pseudohypoparathyroidism in a family with type E brachydactylia.

The authors described two sisters with pseudohypoparathyroidism, who had shortening of the metacarpal and metatarsal bones, irregular shortening of the phalanges, resulting in brachydactylia; short stature, moon-like face, in association with manifestation of tetany and metabolic anomalies (hypocalcemia and hyperphosphatemia in one of the patients). Investigation into the genealogy of the patients ascertained their father and grandmother to be of the same constitutional type: small in stature, moon-like face, shortened metacarpal bones (less marked); in the absence of any manifestations of tetany and metabolic anomalies. Evidently, in genealogies with type E brachydactylia of pure form one may expect the occurrence of disorders of the type of pseudohypoparathyroidism. As regards differential diagnosis, consideration should be given in hypoparathyroidism, pseudo-pseudohypoparathyroidism, and other syndromes with brachydactylia.

Child↗