bluuebunny/crossref_metadata_2025_split huggingface dataset:
Narcolepsy
Authors: Emmanuel Mignot  
Published: November 2012

Narcolepsy with and without cataplexy has two different nosological entities. Narcolepsy-cataplexy is strongly associated with HLA-DQB1*0602 and usually caused by a selective deficiency in the hypothalamic neuropeptide hypocretin (orexin). The cause of hypocretin deficiency is most likely an autoimmune attack directed against hypocretin cells. Diagnosis is performed clinically, with the additional sleep tests such as the Multiple Sleep Latency Test, or in some cases, by measuring hypocretin-1 levels in the Cerebrospinal fluid (CSF).To date, therapy is mostly pharmacological and does not act directly on the hypocretin system. Stimulant compounds seem to increase alertness by activating dopaminergic transmission in the brain, while antidepressant therapy reduces cataplexy by increasing adrenergic and serotoninergic transmission. The mode of action of gamma-hydroxybutyrate (sodium oxybate), a treatment for cataplexy and disturbed nocturnal sleep is uncertain, but may involve GABA-B receptors. Narcolepsy without cataplexy is primarily diagnosed using MSLT, with a finding of a short mean sleep latency (≤ 8 min) and at least 2 Sleep Onset REM Periods (SOREMPs). The population-based prevalence of narcolepsy without cataplexy is unknown. It is likely that many cases of narcolepsy without cataplexy have very different pathogenesis, and/or result from false-positive MSLT. A minority of cases without cataplexy have hypocretin deficiency. For cases without cataplexy or hypocretin deficiency, research is needed to better understand the pathophysiology. Therapy is similar to that used for cases with cataplexy, although amphetamine stimulants should be used with more caution.
Sleep and Metabolic Syndrome
Authors: Alexander Babayeuski  , Octavian C. Ioachimescu  
Published: November 2012

On average, human beings spend approximately one third of their life sleeping. Many individuals are chronically sleep deprived, while many individuals with primary sleep illnesses, such as obstructive sleep apnea (OSA) are unaware of their condition; as a result, without treatment, they suffer from serious negative physical, neurobehavioral and metabolic consequences. Obstructive sleep apnea is now a well recognized chronic disorder that leads to multiple cardiovascular and metabolic complications.During the last decades there has been a mounting body of data that established a better characterized link between OSA and insulin resistance, diabetes mellitus and/or metabolic syndrome. Likely mechanistic mediators of this connection are intermittent hypoxia and sleep fragmentation. Through sympathetic system activation, oxidative stress, hypoxia/re-oxigenation, systemic inflammation, production of harmful adipokines from metabolically active visceral fat and complex endocrine changes, sleep apnea and obesity lead to a vicious cycle of abnormal glucose metabolism, which likely contributes to an increase in cardiovascular morbidity and mortality. When appropriate, physicians should have a low threshold to assess sleep apnea, as effective therapy is readily available (CPAP, mandibular advancement devices, etc). In this chapter we will summarize and analyze the most current data in this rapidly growing field of sleep medicine.
Sleep Apnea and Cerebrovascular Disorders
Authors: Henry Klar Yaggi  
Published: November 2012

When considered separately from cardiovascular disease, stroke is the third leading cause of death and ranks as the leading cause of long-term disability [1]. Strategies for stroke treatment and prevention have helped to reduce the burden of disease, but it remains an important public health challenge. Therefore, understanding underlying pathophysiology and developing novel therapeutic approaches for cerbrovascular disease is of crucial importance.Understanding the link between sleep and cerebrovascular disease may represent one such novel approach. A recent Institute of Medicine report, entitled Sleep Disorders and Sleep Deprivation: an Unmet Public Health Challenge, estimated that 50-70 million Americans suffer from a chronic sleep disorder. A major aspect of this “unmet public health challenge” is the cerebrovascular health consequences of sleep-disordered breathing. Obstructive sleep apnea (OSA), a common form of sleep-disordered breathing, has a high and rising prevalence in the general adult population, attributable in part to the emerging epidemic of obesity and enhanced awareness. OSA has also been independently linked to important health outcomes, including hypertension [2], fatal and nonfatal cardiovascular events [3-5], stroke [6-8], sudden cardiac death [5] and all cause mortality [9, 10], while therapy for sleep apnea may help to reduce cerebrovascular risk.
Pachyosteosclerosis in Archaic Homo: Heavy Skulls for Diving, Heavy Legs for Wading?
Authors: Stephen Munro  , Marc Verhaegen  
Published: November 2012

Compared to the skeletons of all other primates, including Homo sapiens, the crania and postcrania of Homo erectus were typically massive, displaying extremely thick bones with compact cortices and narrow medullary canals. Even outside the primate order, examples of animals displaying such massive bones are rare. Although this feature is sometimes seen as diagnostic of H. erectus, few convincing hypotheses have been put forward to explain its functional and adaptive significance.
Here, we present data showing that unusually heavy bones were a typical, although not exclusive nor indispensable, characteristic of H. erectus populations through the early, middle and late Pleistocene in areas of Asia, Africa and Europe. A comparative review of the occurrence of massive skeletons in other mammals suggests that they have an important buoyancy control function in shallow diving aquatic and semi-aquatic species, and are part of a set of adaptations that allow for the more efficient collection of slow, sessile and immobile foods such as aquatic vegetation and hard-shelled invertebrates. We therefore consider the possibility that part-time shoreline collection of aquatic foods might have been a typical element of the lifestyle of H. erectus populations. We discuss the alternative explanations for heavy bones from the literature, as well as apparent exceptions to the rule, such as thin-boned H. erectus and thick-boned Homo sapiens fossils. A review of the palaeo-ecological data shows that most, if not all, H. erectus fossils and tools are associated with water-dependent molluscs and large bodies of permanent water. Since fresh and salt water habitats have different densities, we hypothesize that in H. erectus as well as in some Homo sapiens populations, there might have been a positive correlation between massive bones and dwelling along sea or salt lake shores.
Human Breath-Hold Diving Ability Suggests a Selective Pressure for Diving During Human Evolution
Authors: Erika Schagatay  
Published: November 2012

Modern humans are generally considered to be fully terrestrial, yet display a range of activities involving breath-hold (apneic) diving, including sustained harvest diving, spear-fishing, recreational free-diving and competitive apnea for duration, distance or depth. Via harvest diving, involving repeated diving with half of the time submerged for several hours per day, groups in South East Asia obtain a considerable amount of catch. The physiological basis for such repeated diving involves i) conscious breath control, ii) an efficient diving response, diverting stored oxygen to the heart and brain, and iii) adequate thermal insulation. Another contribution to the human diving ability comes from the spleen, which - by ejecting extra red blood cells into circulation - can enhance blood gas storage and carbon dioxide buffering capacity, a response typically found in seals.
Most striking among human aquatic activities is competitive apnea, with records of a period of 11 min 35 s in duration, the distance of 265 m in underwater swimming with fins, and a depth of 124 m in deep-diving with fins. Without fins, the distance of 218 m and depth of 101 m have been achieved, performances in the range of marine mammals. This requires additional mechanisms to maximize gas storage, minimize energy expenditure, and enhance conscious tolerance to asphyxia, involving e.g. increase lung volume, baseline hematocrit and spleen volume, and means to cope with the increased pressure. While it takes both inherent predisposition and training to achieve such record results, most healthy humans can, after some practice, make voluntary apneas of 3-4 min, swim a distance of 50 m under water and reach depths of 20-30 m, which may be unique among terrestrial mammals.

Human superior harvest diving and competitive diving capacity may suggest a selective pressure for diving during some time period of human evolution.
Obstetrical Implications of the Aquatic Ape Hypothesis
Authors: Michel Odent  
Published: November 2012

The aquatic ape hypothesis (AAH) offers the possibility to re-interpret several aspects of the human pre- and perinatal periods. We introduced the concept of birthing pools in the 1970s in order to treat labor pain, particularly lumbar pain in the middle of cervical dilation associated with failure to progress. We assumed that immersion in water at body temperature would be a way to reduce the level of stress hormones, facilitating the release of oxytocin. We first learned that the dilation of the cervix could progress dramatically in an aquatic environment before water immersion, and that it was associated with behavior suggestive of a reduction in neocortical control. The release of inhibitors of neocortical control in an aquatic environment was an opportunity to phrase new questions about the relationship of Homo sapiens with water. We also learned that occasionally some women did not want nor had the time to get out of the pool for the birth itself. They behaved in a way suggesting that, while in a particular state of consciousness, they knew that a birth under water was safe for the baby. The origin of this knowledge, and the strong attraction towards water that some women experience during labor, should be looked at in the light of the AAH.
By raising questions about the development of the human brain from an evolutionary perspective, the AAH enables to pose similar questions from an ontogenetic perspective. Today the focus is on the needs in iodine, docosahexaenoic acid, vitamin D, and other nutrients that are essential for brain development, and that happen to be abundant in seafood. This led us to reconsider (pre-)eclampsia as a multi-factorial syndrome, related to a maternalfetal conflict, whereby inadequate maternal nutrition is prioritized as a factor that can independently increase the probability of conflict, challenging the current belief that reduced utero-placental perfusion is the unique pathophysiological process in this human pregnancy disease. In other words, we present (pre-)eclampsia as the price some humans have to pay for having a large brain, while the specific nutritional needs are not ideally satisfied.
Other puzzling and unexplained human particularities in the perinatal period, such as human neonatal vernix caseosa and of the absence of human maternal placentophagy, can be re-interpreted in the light of the AAH.
A Simple Risk Stratification for Time to Development of Sight-Threatening Diabetic Retinopathy
Authors: Stratton Irene M. , Aldington Stephen J. , Taylor David J. , Adler Amanda I. , Scanlon Peter H. 
Published: November 2012

OBJECTIVE
The American Diabetes Association and the English NHS Diabetic Eye Screening Program recommend annual screening for diabetic retinopathy (DR) with referral to ophthalmology clinics of patients with sight-threatening DR (STDR). Using only longitudinal data from retinal photographs in the population-based NHS Diabetic Eye Screening Program in Gloucestershire, we developed a simple means to estimate risk of STDR.

RESEARCH DESIGN AND METHODS
From 2005, 14,554 patients with no DR or mild nonproliferative DR only at two consecutive annual digital photographic screenings were categorized by the presence of DR in neither, one, or both eyes at each screening and were followed for a further median 2.8 years.

RESULTS
Of 7,246 with no DR at either screening, 120 progressed to STDR, equivalent to an annual rate of 0.7%. Of 1,778 with no DR in either eye at first screening and in one eye at second screening, 80 progressed to STDR, equivalent to an annual rate of 1.9% and to a hazard ratio (HR) of 2.9 (95% CI 2.2–3.8) compared with those with no DR. Of 1,159 with background DR in both eyes at both screenings, 299 progressed to STDR equivalent to an annual rate of 11% and an HR of 18.2 (14.7–22.5) compared with individuals with no DR.

CONCLUSIONS
Combining the results from 2 consecutive years of photographic screening enables estimation of the risk of future development of STDR. In countries with systematic screening programs, these results could inform decisions about screening frequency.
Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci
Authors: Boonen Susanne E. , Mackay Deborah J.G. , Hahnemann Johanne M.D. , Docherty Louise , Grønskov Karen , Lehmann Anna , Larsen Lise G. , Haemers Andreas P. , Kockaerts Yves , Dooms Lutgarde , Vũ Dũng Chí , Ngoc C.T. Bich , Nguyen Phuong Bich , Kordonouri Olga , Sundberg Frida , Dayanikli Pinar , Puthi Vijith , Acerini Carlo , Massoud Ahmed F. , Tümer Zeynep , Temple I. Karen 
Published: November 2012

OBJECTIVE
Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care because it has impact on the phenotype and recurrence risk for families. We have determined the genotype, phenotype, and epigenotype of the first 10 families to alert health professionals to this newly described genetic subgroup of diabetes.

RESEARCH DESIGN AND METHODS
The 10 families (14 homozygous/compound heterozygous individuals) with ZFP57 mutations were ascertained through TNDM1 diagnostic testing. ZFP57 was sequenced in probands and their relatives, and the methylation levels at multiple maternally and paternally imprinted loci were determined. Medical and family histories were obtained, and clinical examination was performed.

RESULTS
The key clinical features in probands were transient neonatal diabetes, intrauterine growth retardation, macroglossia, heart defects, and developmental delay. However, the finding of two homozygous relatives without diabetes and normal intelligence showed that the phenotype could be very variable. The epigenotype always included total loss of methylation at the TNDM1 locus and reproducible combinations of differential hypomethylation at other maternally imprinted loci, including tissue mosaicism.

CONCLUSIONS
There is yet no clear genotype–epigenotype–phenotype correlation to explain the variable clinical presentation, and this results in difficulties predicting the prognosis of affected individuals. However, many cases have a more severe phenotype than seen in other causes of TNDM1. Further cases and global epigenetic testing are needed to clarify this.
Impact of Sleep Duration on Obesity and the Glycemic Level in Patients With Type 2 Diabetes
Authors: Ohkuma Toshiaki , Fujii Hiroki , Iwase Masanori , Kikuchi Yohei , Ogata Shinako , Idewaki Yasuhiro , Ide Hitoshi , Doi Yasufumi , Hirakawa Yoichiro , Nakamura Udai , Kitazono Takanari 
Published: November 2012

OBJECTIVE
Few studies are currently available regarding the influence of sleep duration on glycemic control in diabetic patients. The objective of the current study was to examine the relationship between sleep duration, obesity, and the glycemic level in type 2 diabetic patients.

RESEARCH DESIGN AND METHODS
A total of 4,870 Japanese type 2 diabetic patients aged ≥20 years were divided into six groups according to their self-reported sleep duration: less than 4.5 h, 4.5–5.4 h, 5.5–6.4 h, 6.5–7.4 h, 7.5–8.4 h, and more than 8.5 h. The associations of sleep duration with obesity and the HbA1c levels were examined in a cross-sectional manner.

RESULTS
The HbA1c levels showed a quadratic association with sleep duration; namely, a shorter or longer sleep duration was associated with a higher level compared with a sleep duration of 6.5–7.4 h (P for quadratic trend &lt;0.001). This association remained significant after adjusting for potential confounders, including the total energy intake and depressive symptoms. Furthermore, additional adjustments for obesity, which also showed a U-shaped relationship with sleep duration, did not attenuate the U-shaped sleep-HbA1c association. A significant interaction between sleep duration and age or the use of insulin was observed for the HbA1c levels.

CONCLUSIONS
Sleep duration was shown to have U-shaped associations with obesity and the HbA1c levels in type 2 diabetic patients, independent of potential confounders, and therefore may be an important modifiable factor for the clinical management of patients with type 2 diabetes.
Diagnostic and Prognostic Performances Over 9 Years of a Selective Screening Strategy for Gestational Diabetes Mellitus in a Cohort of 18,775 Subjects
Authors: Cosson Emmanuel , Benbara Amélie , Pharisien Isabelle , Nguyen Minh Tuan , Revaux Aurélie , Lormeau Boris , Sandre-Banon Dorian , Assad Nabil , Pillegand Camille , Valensi Paul , Carbillon Lionel 
Published: November 2012

OBJECTIVEWe aimed to evaluate a selective screening strategy for gestational diabetes mellitus (GDM) based on the presence of risk factors: BMI ≥25 kg/m2, age ≥35 years, family history of diabetes, personal history of GDM, or birth of a child with macrosomia.RESEARCH DESIGN AND METHODSOf 20,630 deliveries between 2002 and 2010, we selected 18,775 deliveries in women with no known diabetes and for whom all risk factors were known. GDM was universally screened and defined as fasting plasma glucose level ≥5.3 mmol/L and/or 2-h postload (75 g) glucose level ≥7.8 mmol/L.RESULTSThe prevalence of at least one risk factor has increased since 2002 (P &lt; 0.001) from 51.7 to 61.5%, with no change in the GDM prevalence (mean 14.4%, intention to screen). At least one risk factor was present in 58.5% of women who represented 65.3% of all those with GDM. The presence of risk factors was significantly associated with GDM (odds ratio 1.4 [95% CI 1.3–1.5], P &lt; 0.001) and with GDM-related events (preeclampsia/large for gestational age/dystocia) (P &lt; 0.001) with the following incidences: no GDM/no risk factor 8.8%, no GDM/risk factor 11.1%, GDM/no risk factor 16.7%, and GDM/risk factor 18.2%.CONCLUSIONSThe presence of risk factors increased during the last decade. This condition is predictive of GDM and GDM-related events. However, a selective screening would lead to missing one-third of the women with GDM who, even without risk factors, had more events than women without GDM. Therefore, these data stand against the present selective screening currently proposed in the French guidelines.
Partial isothermal section of the Dy-Co-Ga ternary system at 500°C
Authors: Li J. Q. , Li H. T. , Li X. X. , Ao W. Q. , Liu F. S. 
Published: November 2012

Abstract
The partial isothermal section of the Dy–Co–Ga ternary system (below 33.3 at.% Dy) at 500 °C was investigated and constructed mainly using X-ray powder diffraction analysis with the aid of scanning electron microscopy. The 8 binary compounds, CoGa, CoGa3, Dy2Co17, Dy2Co7, DyCo3, DyCo2, DyGa3 and DyGa2, and the 9 previously reported ternary compounds DyCoGa (γ), Dy5Co12Ga3 (δ), DyCo3Ga2 (κ), Dy6Co7Ga21 (ν), Dy2CoGa8 (ο), Dy2Co3Ga9 (θ), DyCoGa5 (ρ), DyCo5Ga7 (λ) and Dy2Co13
–
11Ga4
–
6 (α) have been confirmed in the partial isothermal section at 500 °C. Five new ternary compounds, DyCo4.41
–
3.35 · Ga0.59
–
1.65 (β), DyCo1.33Ga0.67 (∊), DyCo0.67
–
0.35Ga1.33
–
1.65 (η), DyCo0.25
–
0.15Ga1.75
–
1.85 (ϕ), Dy3Co3Ga8 (μ), were found in this partial isothermal section. The structures of all compounds have been confirmed or determined. The nine compounds, Dy2Co17, Dy2Co13.5
–
9.10Ga3.5
–
7.
6 (α), DyCo4.41
–
3.35 · Ga0.59
–
1.65 (β), Dy2Co7, DyCo3, DyCo2.
55
–
1.8Ga0.
45
–
1.2 (δ), DyGa2, DyCo0.67
–
0.35Ga1.33
–
1.65 (η) and DyCo0.25
–
0.15 · Ga1.75
–
1.85 (ϕ), form solid solutions by the substitution of Ga atoms for Co atoms in the compounds. The solid solution ranges for these solid solutions have been obtained from their powder X-ray diffraction data.
Study of an Al-Si-Cu HPDC alloy with high Zn content for the production of components requiring high ductility and tensile properties
Authors: Vicario Iban , Egizabal Pedro , Galarraga Haize , Plaza Luis María , Crespo Iñigo 
Published: November 2012

Abstract
Conventional high-pressure die casting aluminium components present certain limitations in terms of mechanical properties attainable due to the intrinsic porosity of the castings as well as the presence of iron-based brittle intermetallic phases. The present work approaches the increase in ductility and tensile strength through the analysis of the effect of the alloying elements of Al-Si alloys used for high-pressure die casting. The combination of alloying elements providing the best results in terms of ductility and tensile strength were eventually selected to produce a batch of components that were thoroughly tested. The final alloy had a composition of Si 8.21, Fe 0.78, Cu 1.53, Mn 0.64, Mg 0.46, Ni 0.07, Zn 3.37, Pb 0.34, Sn 0.27, Ti 0.18 and Cr 0.04 wt.%. The selected alloy performance was compared to that of the commercial Al-Si9Cu3 and Silafont® 36 alloys.
Growth kinetics of aluminum-bearing intermetallic layer on tool steel
Authors: Shabestari Saeed G. , Nazari K. A. 
Published: November 2012

Abstract
The growth kinetics and morphology of intermetallic compounds at the interface of H13 tool steel and A380 molten aluminum alloy have been investigated through immersion experiments in the temperature range of 680 to 740 °C. The effect of nitride coating of the surface of H13 steel on the formation and growth of intermetallic layers has also been studied. The results of scanning electron microscopy indicated that three intermetallic layers are formed at the interface, Al8Fe2Si, Al5FeSi, and Al12Fe5Si. Nitride coating decreased the overall intermetallic layer thickness at temperatures between 680 and 740 °C. It decreased the number of layers at 680 °C; the Al12Fe5Si layer was not formed. Kinetics study of the interfacial reaction between H13 steel samples and A380 aluminum alloy revealed parabolic growth. The growth rate of the intermetallic layer was evaluated and the activation energy was found to be 40 and 158 kJ mol−1 for H13 steel and nitride-coated H13 steel, respectively.
Nanomechanical studies and materials characterization of metal/polymer bilayer MEMS cantilevers
Authors: Pustan Marius , Dudescu Cristian , Birleanu Corina , Rymuza Zygmunt 
Published: November 2012

Abstract
Bilayer microelectromechanical components such as microcantilevers, microbridges or micromembranes are usually used in microtransduction for actuation and sensing. One layer achieves the structural and elastic recovery function and the other layer acts as the active part by deforming under actuations. This paper describes the studies of mechanical characteristics of flexible bilayer microcantilevers fabricated from the polymer SU8 with a reflective nano-metallic layer on the top. The mechanical characteristics investigated are stiffness, modulus of elasticity, resonant frequency, bending strain and stress. The analytical relationships for bending stiffness of bilayer microcantilevers are determined by using Castigliano's second theorem. The first bending resonant frequency is computed based on the lumped-parameter model. Experimental tests of mechanical characteristics and materials characterization are developed using atomic force microscopy and nanoidentation. Finite element analysis is used to determine the maximum stress in the sample layers and their mechanical responses.