bluuebunny/crossref_metadata_2025 huggingface dataset:
Determining the appropriate selection index for Rayeni Cashmere goat under pasture-based production system
Authors: Kargar Borzi Najmeh , Mehrgardi Ahmad Ayatollahi , Fozi Masood Asadi , Vatankhah Mahmood
Published: April 2017

The aim of the present study was to identify the significance of Rayeni Cashmere goat’s socioeconomic traits so as to derive economic weights for the selection criteria that can be used easily by goat breeders. A deterministic bio-economic model was used to estimate economic value for adult bodyweight of doe (BWD), annual milk yield (MW), annual cashmere weight (CW), bodyweight of kids sold at 6.5 months (WK), and number of kids sold at 6.5 months per doe (NK). The relative importance of traits was determined on the basis of the estimated economic values, and, consequently, the most beneficial traits were applied to construct selection indices. Five selection indices with different herd sizes and buck ratios were proposed (I1–I5). The traits included in each index were as follows: BWD, MW, CW, WK and NK (I1); MW, CW, WK and NK (I2); BWD, MW, WK and NK (I3); BWD, MW and CW (I4); and BWD, CW, WK and NK (I5). Absolute economic values (US$) of BWD, MW, CW, WK and NK traits were $–0.870, $0.111, $5.660, $21.655 and $1.712 respectively. The results indicated that in all indices, the genetic and economic gains were elevated by an increased herd size and a decreased buck ratio. The maximum values of genetic and economic gains were obtained in herd size of 400 and buck ratio of 0.04. The highest genetic gain was obtained under Index 1, while the highest amount of economic gain was acquired under Index 2; however, the maximum accuracy of selection index was achieved under Index 1. The obtained results revealed that the most appropriate selection index for this breed is Index 1, which includes BWD, MW, CW, WK and NK. By applying Index 1, we could concurrently promote improvement of all traits, which highlights the potential of this index as a good promising strategy for developing selection criteria of Rayeni Cashmere goat under a pasture-based production system.
Use of barley crops, and combinations of lucerne and Wimmera grass, as pasture for grazing sheep in the semiarid zones of Spain
Authors: de Vega A. , Valiente O. L. , Olmos G. , Pérez-Calvo E.
Published: April 2017

Taking into account the relationship between rainfall and temperature, 64% of the Spanish territory can be classified as arid (25%) or semiarid (39%). In these areas, vegetal surface includes permanent pastures and drought grasslands (34.0%), fallows (13.4%), winter cereals for grain production (21.2%), forage crops (mainly lucerne, and winter cereals harvested as green forage; 2.6%) and woodland hills. Ruminants in these zones account for 15.4 million head, of which nearly 80% are sheep. In the present paper, the possibilities of integrating sheep in cropping systems are discussed, and an alternative based on the use of permanent sowed prairies (lucerne), self-sowing annuals (Wimmera ryegrass) and winter cereals (barley) will be analysed.
Molecular insights into the functional role of nitric oxide (NO) as a signal for plant responses in chickpea
Authors: Santisree Parankusam , Bhatnagar-Mathur Pooja , Sharma Kiran K.
Published: April 2017

The molecular mechanisms and targets of nitric oxide (NO) are not fully known in plants. Our study reports the first large-scale quantitative proteomic analysis of NO donor responsive proteins in chickpea. Dose response studies carried out using NO donors, sodium nitroprusside (SNP), diethylamine NONOate (DETA) and S-nitrosoglutathione (GSNO) in chickpea genotype ICCV1882, revealed a dose dependent positive impact on seed germination and seedling growth. SNP at 0.1 mM concentration proved to be most appropriate following confirmation using four different chickpea genotypes. while SNP treatment enhanced the percentage of germination, chlorophyll and nitrogen contents in chickpea, addition of NO scavenger, cPTIO reverted its impact under abiotic stresses. Proteome profiling revealed 172 downregulated and 76 upregulated proteins, of which majority were involved in metabolic processes (118) by virtue of their catalytic (145) and binding (106) activity. A few crucial proteins such as S-adenosylmethionine synthase, dehydroascorbate reductase, pyruvate kinase fragment, 1-aminocyclopropane-1-carboxylic acid oxidase, 1-pyrroline-5-carboxylate synthetase were less abundant whereas Bowman-Birk type protease inhibitor, non-specific lipid transfer protein, chalcone synthase, ribulose-1-5-bisphosphate carboxylase oxygenase large subunit, PSII D2 protein were highly abundant in SNP treated samples. This study highlights the protein networks for a better understanding of possible NO induced regulatory mechanisms in plants.
Insects in the diet of fish from Amazonian streams, in western Pará, Brazil
Authors: Cardoso A. C. , Couceiro S. R. M.
Published: April 2017

In the present study we evaluated the contribution of insects, in particular aquatic forms, to the diet of Amazonian stream fish in western Pará, Brazil. The fish and insect fauna of 10 streams were sampled in the Tapajós National Forest. The fish consumed a diversity of nutrients of terrestrial and aquatic origin (algae, sediments, terrestrial and aquatic insects, fish), confirming that most are generalists. In the case of the species that fed exclusively on aquatic insects, a comparison of the diets with the availability of prey indicates that the fish do not forage selectively. Only 5 of the 21 species analysed fed exclusively on aquatic insects, and only 3 of these were taxon selective. Fifteen species consumed terrestrial insects, but did not feed exclusively on these organisms. This flexible feeding behaviour guarantees survival when preferred resources are scarce or absent. The results of the present study reinforce the importance of riparian forest in the feeding ecology of stream fish, because this habitat provides terrestrial insects and influences the occurrence of aquatic insects. The diversity of the Amazon region is reflected in that of local communities, and the present study provides important new data on the diet of the stream fish communities of western Pará.
Corrigendum to: Socioeconomic status as a factor in Indigenous and non-Indigenous children with hearing loss: analysis of national survey data
Authors: Simpson Andrea , Enticott Joanne C. , Douglas Jacinta
Published: April 2017

In this paper, the association between socioeconomic status and speech, language and communication outcomes for primary-school-going children with hearing loss using population survey data was analysed. The dataset used for analysis consisted of 289973 children in total, of which 3174 children had hearing loss. For all children, higher socioeconomic status was positively correlated with better speech, language and communication outcomes. A hearing loss was indicated for 1% of non-Indigenous children and 4.3% of Indigenous children. Non-Indigenous children with hearing loss were found to be fairly evenly distributed by socioeconomic status, whereas Indigenous children with hearing loss were found to be statistically significantly more likely to be living in the most disadvantaged socioeconomic areas. Socioeconomic status was found to affect developmental outcomes for all children, regardless of Indigenous and hearing loss status.
Gesture-speech unity
Authors: McNeill David
Published: April 2017

Minimal packages of language embodiment have been called growth points (GPs). In a GP gesture and speech are inherent and equal parts. Out of a GP comes speech orchestrated around a gesture. Can theories of language origin explain this dynamic process? A popular theory, gesture-first, cannot; in fact, it fails twice – predicting what did not evolve (that gesture was marginalized when speech emerged), and not predicting what did evolve (that there is gesture-speech unity). A new theory, called Mead’s Loop, is proposed that meets the test. Mead’s Loop agrees that gesture was indispensable to the origin of language but holds that gesture was not first, that any gesture-first could not have led to language, and that to reach it gesture and speech had to be “equiprimordial.”
Gesture in socio-moral reasoning
Authors: Beaudoin-Ryan Leanne
Published: April 2017

The purpose of this chapter will be to expand our understanding of the effects that gestures have on learning by exploring their impact on the acquisition of non-spatial concepts. This is crucial to our understanding of how exactly gestures help learners – a premise at the very heart of this book. It could be the case that gesture simply aids in the learning of spatial information. In and of itself, this is a remarkable contribution. Alternatively, it could be that gesture actually conveys a general cognitive benefit by aiding in the learning of both spatial and non-spatial information, making gesture a potent tool for understanding the world around us. Using extant literature in conjunction with experimental findings, I will make a case for the latter.
Making and breaking common ground
Authors: Nathan Mitchell J. , Alibali Martha W. , Church R. Breckinridge
Published: April 2017

Teachers regularly use gesture as part of multimodal instruction to both break and make common ground. Teachers break common ground when they introduce new ideas and new mathematical practices. Teachers make common ground by connecting new ideas to students’ prior knowledge and to current disciplinary practices. Our findings show the importance of linking gestures, a highly regulated aspect of pedagogical communication, which is used to foster connection building, while reducing the cognitive demands for learners. A focus on the function of pedagogical gesture for managing common ground provides an account of classroom learning that resolves the Learning Paradox by examining the establishment, maintenance and disruption of common ground.
Torture laid bare
Authors: Mooney Annabelle
Published: April 2017

Torture, while internationally sanctioned, is not well-defined. This paper sets out a Minimal English definition of the crime of ‘torture’ in international law. The four elements of torture are: (1) infliction of severe pain and suffering (2) acting with intent (3) for a purpose (4) by the state. The connection between intention and outcome is considered in the light of presumptions. I then briefly consider the concept of ‘lawful sanctions’ and the UN Standard Minimum Rules that apply to the treatment of prisoners to establish a baseline against which allegations of torture can be measured. Finally, I argue that current regimes of British benefit sanctions, whereby social welfare payments are stopped, may in some cases constitute torture. This argument considers the effects of sanctions and the discourses and ideologies attached to social welfare claimants.
Biofilm Formation on Aquaculture Substrates by Selected Bacterial Fish Pathogens
Authors: Cai Wenlong , Arias Covadonga R.
Published: April 2017

The objective of this study was to determine whether common bacterial catfish pathogens could attach and colonize surfaces commonly found in aquaculture facilities. In addition, we evaluated the role of calcium in biofilm formation. Attachment to polystyrene plates was used to quantify biofilm formation by five bacterial pathogens (i.e., Flavobacterium columnare, Aeromonas hydrophila, Edwardsiella ictaluri, E. tarda, and E. piscicida). Flavobacterium columnare and A. hydrophila formed thick biofilms that were enhanced by calcium supplementation. Biofilm formation was significantly lower in all Edwardsiella species tested and calcium had little to no effect on Edwardsiella biofilm formation. Attachment to natural and artificial surfaces was quantified by a standard plate count method. Scanning electron microscopy (SEM) was used to confirm biofilm formation on the substrates. Flavobacterium columnare formed biofilm on the liner, flexible PVC, and nets. Bamboo prevented F. columnare attachment and inhibited cell growth. Aeromonas hydrophila and E. ictaluri formed biofilm on all materials tested, although significant differences were found among substrates. While E. ictaluri failed to form biofilm on microtiter polystyrene plates, it was able to colonize and multiply on all aquaculture materials tested. Our results demonstrated that common bacterial pathogens had the potential of colonizing surfaces and may use biofilm as reservoirs in fish farms.

Received July 19, 2016; accepted January 19, 2017 Published online April 13, 2017
RNA and a cell wall component of Enterococcus faecalis IC-1 are required for phagocytosis and interleukin 12 production by the mouse macrophage cell line J774.1
Authors: Nakase Junpei , Ukawa Yuuichi , Takemoto Syoji , Kubo Takayoshi , Sagesaka Yuko M , Aoki-Yoshida Ayako , Totsuka Mamoru
Published: April 2017

Enterococcus faecalis is a resident lactic acid bacterium in the human intestine. Its immunostimulatory action was reported to be enhanced by heat sterilization. To investigate its beneficial actions, we evaluated the ability of 10 E. faecalis strains to induce interleukin-12 (IL-12) production in a mouse macrophage cell line, J774.1 and found that the strain, E. faecalis IC-1, had a potent IL-12-inducing ability. Furthermore, we investigated the underlying mechanism by treating IC-1 cells with RNase or lysozyme. Its activity almost disappeared and an antagonist of Toll-like receptor (TLR) 7 inhibited this activity. Moreover, lysozyme-treated IC-1 bacteria were not phagocytized by J774.1 cells, and did not induce IL-12 production. Based on our results, we propose that macrophages recognize the cell wall components of IC-1, leading to phagocytosis. The IC-1 RNA is then recognized by TLR7, which induces the production of IL-12.
Tate’s work and the Serre–Tate correspondence
Authors: Colmez Pierre
Published: April 2017

The Serre–Tate correspondence contains a lot of Tate’s work in a casual form. We present some excerpts that show how some of Tate’s best known contributions came into being.
Quantitative high-content imaging identifies novel regulators of Neo1 trafficking at endosomes
Authors: Dalton Lauren E. , Bean Björn D. M. , Davey Michael , Conibear Elizabeth
Published: April 2017

P4-ATPases are a family of putative phospholipid flippases that regulate lipid membrane asymmetry, which is important for vesicle formation. Two yeast flippases, Drs2 and Neo1, have nonredundant functions in the recycling of the synaptobrevin-like v-SNARE Snc1 from early endosomes. Drs2 activity is needed to form vesicles and regulate its own trafficking, suggesting that flippase activity and localization are linked. However, the role of Neo1 in endosomal recycling is not well characterized. To identify novel regulators of Neo1 trafficking and activity at endosomes, we first identified mutants with impaired recycling of a Snc1-based reporter and subsequently used high-content microscopy to classify these mutants based on the localization of Neo1 or its binding partners, Mon2 and Dop1. This analysis identified a role for Arl1 in stabilizing the Mon2/Dop1 complex and uncovered a new function for Vps13 in early endosome recycling and Neo1 localization. We further showed that the cargo-selective sorting nexin Snx3 is required for Neo1 trafficking and identified an Snx3 sorting motif in the Neo1 N-terminus. Of importance, the Snx3-dependent sorting of Neo1 was required for the correct sorting of another Snx3 cargo protein, suggesting that the incorporation of Neo1 into recycling tubules may influence their formation.
Chromosomal passenger complex hydrodynamics suggests chaperoning of the inactive state by nucleoplasmin/nucleophosmin
Authors: Hanley Mariah L. , Yoo Tae Yeon , Sonnett Matthew , Needleman Daniel J. , Mitchison Timothy J.
Published: April 2017

The chromosomal passenger complex (CPC) is a conserved, essential regulator of cell division. As such, significant anti–cancer drug development efforts have been focused on targeting it, most notably by inhibiting its AURKB kinase subunit. The CPC is activated by AURKB-catalyzed autophosphorylation on multiple subunits, but how this regulates CPC interactions with other mitotic proteins remains unclear. We investigated the hydrodynamic behavior of the CPC in Xenopus laevis egg cytosol using sucrose gradient sedimentation and in HeLa cells using fluorescence correlation spectroscopy. We found that autophosphorylation of the CPC decreases its sedimentation coefficient in egg cytosol and increases its diffusion coefficient in live cells, indicating a decrease in mass. Using immunoprecipitation coupled with mass spectrometry and immunoblots, we discovered that inactive, unphosphorylated CPC interacts with nucleophosmin/nucleoplasmin proteins, which are known to oligomerize into pentamers and decamers. Autophosphorylation of the CPC causes it to dissociate from nucleophosmin/nucleoplasmin. We propose that nucleophosmin/nucleoplasmin complexes serve as chaperones that negatively regulate the CPC and/or stabilize its inactive form, preventing CPC autophosphorylation and recruitment to chromatin and microtubules in mitosis.
Clonal rolling circle amplification for on-chip DNA cluster generation
Authors: Korfhage Christian , Fricke Evelyn , Meier Andreas , Geipel Andreas , Baltes Mark , Krüger Nadine , Herschel Florian , Erbacher Christoph
Published: April 2017

Generation of monoclonal DNA clusters on a surface is a useful method for digital nucleic acid detection applications (e.g. microarray or next-generation sequencing). To obtain sufficient copies per cluster for digital detection, the single molecule bound to the surface must be amplified. Here we describe ClonalRCA, a rolling-circle amplification (RCA) method for the generation of monoclonal DNA clusters based on forward and reverse primers immobilized on the surface. No primer in the reaction buffer is needed. Clusters formed by ClonalRCA comprise forward and reverse strands in multiple copies tethered to the surface within a cluster of micrometer size. Single stranded circular molecules are used as a target to create a cluster with about 10 000 forward and reverse strands. The DNA strands are available for oligonucleotide hybridization, primer extension and sequencing.
Inhibition of the cardiac myocyte mineralocorticoid receptor ameliorates doxorubicin-induced cardiotoxicity
Authors: Lother Achim , Bergemann Stella , Kowalski Jessica , Huck Michael , Gilsbach Ralf , Bode Christoph , Hein Lutz
Published: April 2017

Aim

Anthracyclines such as doxorubicin are widely used in cancer therapy but their use is limited by cardiotoxicity. Up to date there is no established strategy for the prevention of anthracyclin-induced heart failure. In this study, we evaluated the role of the cardiac myocyte mineralocorticoid receptor (MR) during doxorubicin-induced cardiotoxicity.

Methods and results

A single high-dose or repetitive low-dose doxorubicin administration lead to markedly reduced left ventricular function in mice. Treatment with the MR antagonist eplerenone prevented doxorubicin-induced left ventricular dysfunction. In order to identify the cell types and molecular mechanisms involved in this beneficial effect we used a mouse model with cell type-specific MR deletion in cardiac myocytes. Cardiac myocyte MR deletion largely reproduced the effect of pharmacological MR inhibition on doxorubicin-induced cardiotoxicity. RNAseq from isolated cardiac myocytes revealed a repressive effect of doxorubicin on gene expression which was prevented by MR deletion.

Conclusions

We show here that (i) eplerenone prevents doxorubicin-induced left ventricular dysfunction in mice, and (ii) this beneficial effect is related to inhibition of MR in cardiac myocytes. Together with present clinical trial data our findings suggest that MR antagonism may be appropriate for the prevention of doxorubicin-induced cardiotoxicity.
Impact of the SYNTAX scores I and II in patients with diabetes and multivessel coronary disease: a pooled analysis of patient level data from the SYNTAX, PRECOMBAT, and BEST trials
Authors: Cavalcante Rafael , Sotomi Yohei , Mancone Massimo , Whan Lee Cheol , Ahn Jung-Min , Onuma Yoshinobu , Lemos Pedro A. , van Geuns Robert-Jan , Park Seung-Jung , Serruys Patrick W.
Published: April 2017

Aims

To assess the impact of the SYNTAX scores I and II in outcomes after percutaneous coronary intervention (PCI) and coronary artery bypass graft (CABG) for patients with diabetes and multivessel disease (MVD).

Methods and results

We performed a patient-level pooled analysis of three large randomized trials of patients with MVD. The impact of coronary anatomic complexity as measured by the SYNTAX score in the differences in outcomes following PCI and CABG was assessed at a median follow-up of 5 years. We also assessed the performance of the SYNTAX II score model in patients with and without diabetes. From the 3280 patients enrolled in the three trials, a total of 1068 (32.6%) had diabetes. The rate of the composite of death, myocardial infarction (MI), or stroke was similar in the PCI and CABG arms in patients with low-intermediate (≤32) SYNTAX scores (15.1% vs. 14.9%, respectively; P = 0.93) while it was significantly higher in the PCI arm in patients with high (≥33) SYNTAX scores (24.5% vs. 13.2%, respectively; P = 0.018). The SYNTAX score II showed good calibration and moderate discrimination ability in patients with diabetes (c-index = 0.68) as well as in those without (c-index = 0.67).

Conclusions

Differences in 5 years outcomes following PCI and CABG for patients with MVD and diabetes were influenced by anatomic complexity as measured by the SYNTAX score. The SYNTAX score II mortality prediction model showed similar performance regardless of the diabetes status.
Disorders of the Epidermis
Authors: Sybert Virginia P.
Published: April 2017

Chapter 2 covers Ichthyoses (Bullous Congenital Ichthyosiform Erythroderma, Harlequin Ichthyosis, Ichthyosis Bullosa of Siemens, Ichthyosis Hystrix, Ichthyosis Vulgaris, Lamellar Exfoliation of the Newborn, Lamellar Ichthyosis/Nonbullous Congenital Ichthyosiform Erythroderma, Netherton Syndrome, Peeling Skin Syndrome, Restrictive Dermopathy, and X-linked Recessive Ichthyosis), Erythrokeratodermas (Erythrokeratodermia Variabilis ET PROGESSIVA, and Pityriasis Rubra Pilaris), Acrokeratoderma (Acrokeratoelastoidosis, Acrokeratosis Verruciformis (HOPF)), Hereditary Palmoplantar Keratodermas (Hereditary Palmoplantar Keratoderma with Deafness, Hereditary Palmoplantar Keratoderma Epidermolytic Hyperkeratosis, Hereditary Palmoplantar Keratoderma Howel-Evans, Hereditary Palmoplantar Keratoderma Olmsted, Hereditary Palmoplantar Keratoderma Punctate, Hereditary Palmoplantar Keratoderma Striata, Hereditary Palmoplantar Keratoderma Unna-Thost, Hereditary Palmoplantar Keratoderma Vohwinkel, Keratolytic Winter Erythema, Mal de Meleda, Papillon-Lefèvre, Scleroatrophic and Keratotic Dermatosis of the Limbs), Porokeratoses (Porokeratosis of Mibelli), Other Disorders of the Epidermis (Absence of Dermatoglyphics, Acanthosis Nigricans, Darier-White Disease, Hereditary Painful Callosities, Keratosis Follicularis Spinulosa Decalvans, Knuckle Pads, Kyrle/Flegel Disease, Ulerythema Ophryogenes), Syndromic Disorders (CHILD Syndrome, Chondrodysplasia Punctata, Ichthyosis with Hypogonadism, KID Syndrome, Neu-Laxova Syndrome, Neutral Lipid Storage Disease with Ichthyosis, Refsum Disease, Richner-Hanhart Syndrome, Sjögren-Larsson Syndrome), Cohesion (Epidermolysis Bullosa, Epidermolysis Bullosa Simplex Dowling-Meara, Epidermolysis Bullosa Simplex Generalized, Epidermolysis Bullosa Simplex Localized, Epidermolysis Bullosa Junctional Generalized, Epidermolysis Bullosa Junctional Generalized Atrophic Benign, Epidermolysis Bullosa Dystrophica Cockayne-Touraine, Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens, Epidermolysis Bullosa Dystrophica Pretibial, Transient Bullous Dermolysis of the Newborn, Hailey-Hailey Disease). Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.
Disorders of Epidermal Appendages
Authors: Sybert Virginia P.
Published: April 2017

Chapter 3 starts by covering conditions of the hair, including Alopecias (Loose Anagen Hair, Male Pattern Baldness, and Marie Unna Syndrome), Hirsutism (Gingival Fibromatosis and Hypertrichosis, Hypertrichosis Lanuginosa Congenita, Leprechaunism, and Localized Hypertrichosis), and Hair Shaft Abnormalities (including Monilethrix, Pili Annulati, Pili Torti, Pili Trianguli Et Canaliculi, Trichorrhexis Invaginata, Trichorrhexis Nodosa, Woolly Hair, Menkes Disease, Trichodentoosseous Syndrome, Trichorhinophalangeal Syndrome, and Trichothiodystrophy). It then covers conditions of the nails, including Congenital Malalignment of the Great Toenails, Familial Dystrophic Shedding of the Nails, Leukonychia, Twenty-Nail Dystrophy, Nail-Patella Syndrome, Onychotrichodysplasia and Neutropenia, and Pachyonychia Congenita). Conditions of the Sweat Glands (Hidradenitis Suppurativa, Hyperhidrosis, and Multiple Syringomas), Sebaceous Glands (Eruptive Vellus Hair Cysts, Familial Dyskeratotic Comedones, Oral-Facial-Digital Syndrome Type I, and Steatocystoma Multiplex), and Ectodermal Dysplasia Syndromes (AEC Syndrome, Clouston Syndrome, EEC Syndrome, Focal Facial Ectodermal Dysplasia, GAPO Syndrome, Hypohidrotic Ectodermal Dysplasia, and Tooth and Nail Syndrome) are also covered. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.
Urticaria
Authors: Sybert Virginia P.
Published: April 2017

Chapter 8 covers Familial Cold Urticaria, Hereditary Angioedema, Melkersson-Rosenthal Syndrome, Muckle-Wells Syndrome, NOMID/CINCA, and Urticaria Pigmentosa. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.
Other Disorders
Authors: Sybert Virginia P.
Published: April 2017

Chapter 9 covers Congenital Erosive and Vesicular Dermatosis, Erythermalgia, Michelin Tire Baby, and Stiff Skin. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.
Metabolic Disease
Authors: Sybert Virginia P.
Published: April 2017

Chapter 11 covers Porphyrias (Congenital Erythropoietic Porphyria, Erythropoietic Protoporphyria, Hereditary Coproporphyria, Porphyria Cutanea Tarda, and Variegate Porphyria), Mucopolysaccharidoses (Hunter Syndrome), and Other Metabolic Disorders (Acrodermatitis Enteropathica, Alkaptonuria, Biotinidase Deficiency, Familial Cutaneous Amyloidosis, and Prolidase Deficiency). Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.
Premature Aging
Authors: Sybert Virginia P.
Published: April 2017

Chapter 12 covers Cockayne Syndrome, De Barsy Syndrome, Hallermann-Streiff Syndrome, Hutchinson-Gilford Progeria, and Werner Syndrome. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.
Immune Deficiency Diseases
Authors: Sybert Virginia P.
Published: April 2017

Chapter 14 covers Chediak-Higashi Disease, Chronic Granulomatous Disease, Epidermodysplasia Verruciformis, Familial Mucocutaneous Candidiasis, Griscelli Syndrome Types 1, 2, and 3, Job Syndrome, Mucoepithelial Dysplasia, and Wiskott-Aldrich Syndrome. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.
Medicine as a Human Experience
Authors: Rosen David H. , Hoang Uyen B.
Published: April 2017

Chapter 1, “Medicine as a Human Experience,” examines the foundational principles of patient-centered care, a shift from the historical paradigm in favor of the illness and doctor-centered approach. The four essential principles that underlie all of medicine as a human experience are acceptance, empathy, conceptualization, and competence. Acceptance and empathy are essential to developing a healing partnership with one’s patients. Both stem from self-awareness, for it is difficult to accept another human being if you have not first accepted yourself. Conceptualization, using the biopsychosocial model and even expanding it to include issues of existential meaning and the human spirit, is related directly to comprehensive medical care. All are integral to our fourth principle, competence, which demands the clinician appraise clinical data critically to see the overall picture in balance with the integration of the other foundational principles.
Care of the Patient: Art or Science?
Authors: Engel George L.
Published: April 2017

The work of the late Dr. George Engel comprises this chapter, which was originally published the same year as Engel’s classic Science article. The “Care of the Patient” piece is both evolutionary and provocative. Nevertheless, it clearly parallels what Francis Peabody wrote in his classic article “The Care of the Patient” nearly 90 years ago. As Engel states, “The care of the patient, no less than the treatment of organ-level disease processes, is a matter for science; excellence in both reflects the art with which the physician applies scientific knowledge…. Enhancement of patient care and human well-being cannot help but follow.”
The Patient-Centered Interview
Authors: Rosen David H. , Hoang Uyen B.
Published: April 2017

In this chapter, the focus is on the patient-centered interview as a basic tool that uses inherent principles of the biopsychosocial model to talk to patients. There are four key approaches to patient interviewing: the science of observation, following the affect, the concept of process, and the A.R.T. of interviewing. Observational skills can be refined to yield valuable clinical data. Follow-the-affect helps to guide the interview in relation to what the patient is feeling, and it acknowledges the importance of students’ abilities to keep track of their own feelings. The interview process segment holds there is a process level to all communication between people. The A.R.T. of interviewing attempts to offer a conceptual link between process and content. The mnemonic device refers to three components: assessment, rankings, and transition. Last, there is a section that offers clinical pearls, mnemonics, and tricks of the trade.
The Experience of Illness and Hospitalization
Authors: Rosen David H. , Hoang Uyen B.
Published: April 2017

In this chapter, a broad overview of some of the key concepts involved in the experience of illness and hospitalization is provided. These concepts include the stages of illness, the experience of illness depending on who the person is, the challenges of illness, coping mechanisms, and so-called “problem patients.” The view of illness is described as a model with schemata of the following stages: (1) awareness (characterized by ambivalence), (2) disorganization (characterized by feeling overwhelmed, helpless, and powerless), and (3) reorganization (heralded by recognition and acceptance). The challenges of illness include dealing with internal psychological factors, problems posed by treatment procedures and the actual hospital environment, relationships with caregivers, self-image, and relationships with family, friends, and coworkers. The ability of patients and their families to cope with this challenge determines the course of the illness and, subsequently, their quality of life.
Dementia disorders
Authors: Zahn Roland , Burns Alistair
Published: April 2017

This chapter provides a brief overview of the different forms of dementia syndromes and provides a simple algorithm for initial differential diagnosis. Rapidly progressive dementias have to be excluded which require specific investigations to detect Creutzfeldt–Jakob as well as inflammatory and autoimmune diseases. A lead symptom-based approach in patients with slowly progressive cognitive and behavioural impairments without neurological symptoms is applied: progressive and primary impairments in recent memory are characteristic of typical Alzheimer’s dementia, primary behavioural changes point to the behavioural variant of frontotemporal dementia, primary impairments of language or speech are distinctive for progressive aphasias, fluctuating impairments of attention are a hallmark of Lewy body dementia, whereas primary visuospatial impairments suggest a posterior cortical atrophy. The chapter further discusses updated vascular dementia guidelines and DSM-5 revisions of defining dementia. Current diagnostic criteria for the different dementias are referenced and the role of neuroimaging is illustrated.
Epidemiology of Alzheimer’s disease
Authors: Qiu Chengxuan , Fratiglioni Laura
Published: April 2017

This chapter provides a brief overview concerning the global epidemic, risk and protective factors, and possible intervention strategies of Alzheimer’s disease, the most common type of dementia. Alzheimer’s disease, which is projected to reach global epidemic level in three to four decades, already has a huge economic and societal impact. Epidemiologic research has provided sufficient evidence supporting that lifestyle or cardiovascular risk factors in middle-aged and older adults play a critical role in the onset and progression of late-life dementia and Alzheimer’s disease, whereas active engagement in mental, social, and physical activities may postpone the onset of the dementing disorders. The community intervention studies are warranted to determine to what extent intervention strategies towards control of major lifestyle and cardiovascular risk factors and related vascular disorders as well as maintenance of an active lifestyle may help delay the onset of Alzheimer’s disease and dementia syndrome.
Managing behavioural and psychological symptoms in Alzheimer’s disease
Authors: Robert Philippe , Leone Elsa , Amieva Hélène , Renaud David
Published: April 2017

This chapter focuses on the behavioural and psychological symptoms of Alzheimer's disease and the different approaches clinicians can take in their treatment of the condition. The behavioural and psychological symptoms are defined as primary manifestations of cerebral dysfunction, and appear specifically as a result of damage to a system or circuit such as the limbic system or the cortico-subcortical circuits. During the progression of Alzheimer’s disease, the presence of at least one BPSD is common and can vary, depending especially on the severity of the dementia-related syndrome at the time of diagnosis. Management of BPSD should preferentially be based on non-pharmacologic approaches first. Pharmacologic treatments should constitute second line treatment and are to be prescribed only after assessment of the individual risk:benefit ratio.
The planning of appropriate medical and social care in dementia
Authors: Olde Rikkert Marcel G.M. , Draskovic Irena , Vernooij-Dassen Myrra
Published: April 2017

This chapter discusses how medical practices can plan appropriately for future management of Alzheimer’s disease. The complexity and heterogeneity of the clinical and social problems in dementia requires a multifaceted approach in clinical practice. With regard to the aetiology of dementia, we are currently moving from the classical hypothesis that dementia is caused by a few distinct and well-defined disease entities (such as Alzheimer’s disease, frontal lobe dementia, vascular dementia) to a pathogenetic hypothesis, in which each patient’s dementia is caused by a combination of slowly progressing, pathophysiologic processes such as Alzheimer-type pathology (i.e. neurofibrillary (β‎-amyloid) plaques and tangles), taupathies, synucleinopathies, and vascular lesions. The diagnostic process in dementia first consists of diagnosing which disease processes caused the cognitive decline and next what problems in care delivery are present and have to be solved.
Case vignettes
Authors: Manera Valeria , Leone Elsa , Thompson Jennifer , Zahn Roland , Burns Alistair , Waldemar Gunhild
Published: April 2017

This chapter provides the reader with practical examples of clinical scenarios. Consisting of four different cases, this chapter builds on the discussions of the previous chapters to ensure the reader is aware of the real-life scenarios clinicians encounter whilst working in this field.
Introduction to “Clinical significance, disability, and biomarkers: Shifts in thinking between DSM-IV and DSM-5”
Authors: Kendler Kenneth S.
Published: April 2017

This chapter presents an introduction to the changes between the DSM-4 and DSM-5 with regards to clinical significance, disability, and biomarkers. It uses illustrative examples to discuss the relationship between disability and psychiatric illness, and the conundrums involved in this association.
The hard question in psychiatric nosology
Authors: Turkheimer Eric
Published: April 2017

Nosology is primarily an exercise in grouping like with like: an empirical, quantitative, and theoretical exercise referred to as taxonomy or cladistics. Consideration of the formal process of making decisions about taxonomy reveals some of the choices that must be made in adopting any particular conceptual system for a complex domain such as psychiatric symptomatology. The psychometrician Louis Guttman and the psychopathologist Paul Meehl made key contributions to our understanding of how multivariate phenomena can be codified. Their contributions clarified the role played by empirical data in nosology, and show that human descriptive convenience also plays a substantial role. Whether psychopathology is best understood as a system of continuous dimensions or discrete categories is underdetermined by data. The hypothesis that psychopathology has a deep structure that can be reflected in a nosological system is an empirical hypothesis that has generally been disconfirmed for most aspects of psychopathology.
Introduction to “Mental disorders, network models, and dynamical systems”
Authors: Kendler Kenneth S.
Published: April 2017

This chapter presents an introduction to mental disorders, network models, and dynamical systems. It outlines the approach taken in the following chapter, and discusses five main points: development of networks from empirical data; interconnected sets of symptoms; network models and “stress to the system”; “levels of connectivity”; and hysteresis of networks.
Introduction to “Description and explanation of the culture-bound syndromes”
Authors: Kendler Kenneth S.
Published: April 2017

This chapter presents an introduction to the description and explanation of culture bound syndromes as further discussed in the following chapter. It discusses examples of culture bound syndromes, , and compares approaches to cross-cultural differences in psychiatric syndromes.
Description and explanation of the culture-bound syndromes
Authors: Murphy Dominic
Published: April 2017

Recent attempts to deal with cultural variation have adopted one of two approaches: Particularization tries to understand mental illness as the outgrowth of local forms of life, and universalization sees it as a disorder to be understood as the malfunctioning of a common human endowment. What does it means for a syndrome to be bound up with a particular culture? The issues here concern the viability of social constructionist models in cases where the individual minds that are altered by social forces are presumed to work in untypical ways. So this chapter is more broadly about integrating social theory and cognitive theory into a framework for explaining mental illness. This should be applicable to all psychopathology, but has been most fully articulated for culture-bound syndromes, where boundaries between the normal and the pathological are often hardest for psychiatry to distinguish.
Introduction to “On the appearance and disappearance of Asperger’s syndrome”
Authors: Kendler Kenneth S.
Published: April 2017

This chapter presents an introduction to the appearance and disappearance of Asperger’s syndrome as further discussed in the following chapter. Asperger’s syndrome was included in the DSM-IV, but removed with the publication of the DSM-5—this chapter outlines the implications of this removal.
On the appearance and disappearance of Asperger’s syndrome
Authors: Solomon Miriam
Published: April 2017

Asperger’s syndrome was added to the psychiatric disease classifications in DSM-IV (1994), and removed from DSM-5 (2013) almost 20 years later. This is a short life for a psychiatric syndrome. This chapter examines the case in depth in order to see what can be learned from it about appropriate criteria for making changes in the DSM nosology. Scientific criteria, clinical considerations, and patient/family perspectives are considered. In general, I recommend broadening the criteria to include the impact on patient self-understanding and identity.
Impact of “severity decategorization” in DSM-5
Authors: First Michael B.
Published: April 2017

This chapter presents a commentary on the impact of “severity decategorization” in DSM-5, as discussed in the previous chapter. It outlines the process of revision for the DSM-5, dimensional proposals and severity scales, and advantages and disadvantages of decategorization strategies.
Comment on “The ontology and epistemology of symptoms: The case of auditory verbal hallucinations in schizophrenia”
Authors: Hoff Paul
Published: April 2017

This chapter presents a commentary on the ontology and epistemology of psychiatric symptoms, as discussed in the previous chapter. It outlines the core elements of Parnas’ and Urfer-Parnas’ paper, before putting forward supportive arguments along with a few questions concerning possible limitations of the proposals on ontology, categorical specificity of schizophrenic AVH, and the interpersonal realm.
Psychiatric nosology, epistemic iteration, and pluralism
Authors: Kendler Kenneth S.
Published: April 2017

This chapter presents a commentary on psychiatric nosology, epistemic iteration, and pluralism, as discussed in the previous chapter. It explores four broad points: the positive features of pluralism for basic sciences; proposed “blending” of scientific realism and pragmatism; the moral obligation to advocate for the reality of psychiatric illness; and the difficulty in implementing pluralism under an official system.
Introduction to “Epistemic iteration or paradigm shift: The case of personality disorder”
Authors: Kendler Kenneth S.
Published: April 2017

This chapter presents an introduction to epistemic iteration, as further discussed in the following chapter. It raises three general comments: the importance of a philosophically informed history of the DSM; the themes of dispute between psychiatry and psychology; and the importance of the box canyon problem and a “re-boot” of nosologic systems.
Introduction to “Progressive validation of psychiatric syndromes: The example of panic disorder”
Authors: Parnas Josef
Published: April 2017

This chapter presents an introduction to the progressive validation of psychiatric syndromes, as further discussed in the following chapter. It briefly outlines epistemic iteration, and Lakatos’s classification of research programs.
Comments on “Progressive validation of psychiatric syndromes: The example of panic disorder”
Authors: Schaffner Kenneth F. , Tabb Kathryn
Published: April 2017

This chapter presents a commentary on the progressive validation of psychiatric syndromes, including the characteristics of a Lakatosian research program, Lakatos’s heuristics and the issue of “value”.
Causal pathways, random walks, and tortuous paths: Moving from the descriptive to the etiological in psychiatry
Authors: Tabb Kathryn , Schaffner Kenneth F.
Published: April 2017

Most philosophers of psychiatry as well as psychiatrists themselves believe that instead of revising psychiatric categories, researchers should attempt to discover causal mechanisms that can explain these common clusters of signs and symptoms. But what sorts of causal explanations can realistically be hoped for? We argue here that psychiatric nosologists should aim to construct categories that represent robust patterns in the data that emerge from our best theories. The portmanteau term “robust pattern” introduces two philosophical terms: Dennett’s real patterns, and Wimsatt’s theory of robustness. Robust patterns are best seen heuristically, as categories growing out of empirical theories in response to practical needs. In the case of schizophrenia, we explore how a robust pattern approach might differ from a traditional diagnostic kind as formulated by the DSM. We conclude by considering the ontological status of diagnostic categories viewed as robust patterns, and comparing this with a “natural kinds” approach.
Introduction to “What is progress in psychiatric research?”
Authors: Kendler Kenneth S.
Published: April 2017

This chapter presents an introduction to the issue of what is progress in psychiatric research, as further discussed in the following chapter. It outlines the paradigm proposed by Kraepelin, and the arguments proposed against it.
Introduction to “DSM-5.1: Perspectives on continuous improvement in diagnostic frameworks”
Authors: Kendler Kenneth S.
Published: April 2017

This chapter presents an introduction and contextual background to the process of continuous improvement in the diagnostic frameworks discussed in the following chapter. It highlights three points: the driving forces behind nosologic revisions, the importance of procedural structure within the DSM Steering Committee, and the broadening criteria for change.
DSM-5.1: Perspectives on continuous improvement in diagnostic frameworks
Authors: Appelbaum Paul S.
Published: April 2017

Since the mid-twentieth century, the DSM has guided psychiatrists in categorizing disorders. Revisions have taken years, with work groups considering changes to the entire manual. A more timely and efficient approach to updating the DSM would involve continuous improvement of particular diagnostic categories, when and if supported by advances in the field. The aim is to avoid the delays in the incorporation of new knowledge that are inherent in updating at intervals of a decade or more. The American Psychiatric Association has therefore established a structure by which evidence-based proposals for changes to the DSM can be considered and adopted on an ongoing basis. This chapter describes how proposals will be considered and the standards to be applied to proposed modifications. Challenges include calibrating optimal rigor of the review process, pruning diagnoses that lack validity or clinical utility, and subjecting the process itself to iterative improvement.
Cervical Transforaminal/Nerve Root Injections: Fluoroscopy
Authors: Petersohn Jeffrey D.
Published: April 2017

This chapter reviews relevant anatomic features of the cervical spine. Discussion of details of preoperative evaluation, operative positioning, and necessary optimization of radiographic features with c-arm manipulation follows. Details of technique including use of radiocontrast injection and digital subtraction angiography are discussed in the context of optimal techniques to avoid and minimize complications. Lastly, efficacy and outcomes are discussed briefly.