bluuebunny/crossref_metadata_2025 huggingface dataset:
Exact solitary solution of Schamel equation in plasmas with negative ions
Authors: El-Kalaawy O. H.
Published: November 2011

A theoretical investigation is carried out for understanding the properties of the solitary solution in plasmas with negative ions. Schamel equation for a plasma consisting of electron, positive ions and negative ions has been derived by using the reductive perturbation method. The effects of negative ions and the density on the properties of the solitary solution is discussed. We make use of the extended mapping method and auxiliary equation to obtain the solution of Schamel equation. This solution includes the Jacobi elliptic function solutions, hyperbolic function solutions, rational solutions, and periodic wave solutions. Furthermore, we show that the incorporate negative ion effects in the nonlinear propagation of ion acoustic waves that are controlled by trapped electrons and the results of the solitary solution in plasmas with negative ions model are discussed.
Structure and transport properties of polymer grafted nanoparticles
Authors: Goyal Sushmit , Escobedo Fernando A.
Published: November 2011

We perform molecular dynamics simulations on a bead-spring model of pure polymer grafted nanoparticles (PGNs) and of a blend of PGNs with a polymer melt to investigate the correlation between PGN design parameters (such as particle core concentration, polymer grafting density, and polymer length) and properties, such as microstructure, particle mobility, and viscous response. Constant strain-rate simulations were carried out to calculate viscosities and a constant-stress ensemble was used to calculate yield stresses. The PGN systems are found to have less structural order, lower viscosity, and faster diffusivity with increasing length of the grafted chains for a given core concentration or grafting density. Decreasing grafting density causes depletion effects associated with the chains leading to close contacts between some particle cores. All systems were found to shear thin, with the pure PGN systems shear thinning more than the blend; also, the pure systems exhibited a clear yielding behavior that was absent in the blend. Regarding the mechanism of shear thinning at the high shear rates examined, it was found that the shear-induced decrease of Brownian stresses and increase in chain alignment, both correlate with the reduction of viscosity in the system with the latter being more dominant. A coupling between Brownian stresses and chain alignment was also observed wherein the non-equilibrium particle distribution itself promotes chain alignment in the direction of shear.
Monte Carlo comparisons to a cryogenic dark matter search detector with low transition-edge-sensor transition temperature
Authors: Leman S. W. , McCarthy K. A. , Brink P. L. , Cabrera B. , Cherry M. , Do Couto E. Silva E. , Figueroa-Feliciano E. , Kim P. , Mirabolfathi N. , Pyle M. , Resch R. , Sadoulet B. , Serfass B. , Sundqvist K. M. , Tomada A. , Young B. A.
Published: November 2011

We present results on phonon quasidiffusion and Transition Edge Sensor (TES) studies in a large, 3 inch diameter, 1 inch thick [100] high purity germanium crystal, cooled to 50 mK in the vacuum of a dilution refrigerator, and exposed with 59.5 keV gamma-rays from an Am-241 calibration source. We compare calibration data with results from a Monte Carlo which includes phonon quasidiffusion and the generation of phonons created by charge carriers as they are drifted across the detector by ionization readout channels. The phonon energy is then parsed into TES based phonon readout channels and input into a TES simulator.
Ultra-broadband heterogeneous quantum cascade laser emitting from 2.2 to 3.2 THz
Authors: Turčinková Dana , Scalari Giacomo , Castellano Fabrizio , Amanti Maria I. , Beck Mattias , Faist Jérôme
Published: November 2011

We present a heterogeneous terahertz quantum cascade laser that emits continuously between 2.2 and 3.2 THz, covering an emission range of over 40% around the central frequency. Devices were realized by stacking different active region designs into a double-metal waveguide. They operate up to 125 K with 15 mW peak power at 10 K in pulsed mode. Smaller devices show broadband emission also in continuous wave. Time-resolved measurements of the emission spectra were realized, confirming the broadband emission within a 5 ns time window.
Super-radiant Cherenkov backward-wave oscillator with cyclotron absorption
Authors: Bandurkin I. V. , Savilov A. V.
Published: November 2011

The use of the resonance cyclotron absorption in the Cherenkov electron oscillator, which operates in the non-stationary regime of the super-radiation of short powerful rf pulses, is proposed. Due to a non-linear character of the absorption, it suppresses spurious oscillations at a small-signal stage, but almost does not affect the non-linear process of the super-radiant generation. This provides a possibility for a significant increase of the peak power of the super-radiant rf pulse.
Microwave driven arbitrary coupling between trapped charge resonances in a silicon single electron transistor
Authors: Erfani Morteza , Hasko David G. , Rossi Alessandro , Sik Cho Wan , Choi Jung-Bum
Published: November 2011

We report controllable coupling between coherent excitations in a silicon transistor, which is useful for double-qubit gate operation. Coupling interactions may be directed by adjusting the gate voltage in a semiconductor device or by an additional flux in a superconducting device. Here, we demonstrate an alternative approach to coupling by exploiting the nonlinear behavior of the silicon transistor. Microwave spectroscopy on a DC-biased transistor has previously been found to indicate the presence of coherent oscillating electrons. We couple two such resonances by using triple-frequency spectroscopy, where the third frequency corresponds to the frequency difference between the two on-resonance frequencies.
Spectral resolution of states relevant to photoinduced charge transfer in modified pentacene/ZnO field-effect transistors
Authors: Spalenka Josef W. , Mannebach Ehren M. , Bindl Dominick J. , Arnold Michael S. , Evans Paul G.
Published: November 2011

Pentacene field-effect transistors incorporating ZnO quantum dots can be used as a sensitive probe of the optical properties of a buried donor-acceptor interface. Photoinduced charge transfer between pentacene and ZnO in these devices varies with incident photon energy and reveals which energies will contribute most to charge transfer in other structures. A subsequent slow return to the dark state following the end of illumination arises from near-interface traps. Charge transfer has a sharp onset at 1.7 eV and peaks at 1.82 and 2.1 eV due to transitions associated with excitons, features absent in pentacene FETs without ZnO.
A variable constraint tube model for size effects of polymer nano-structures
Authors: Tang Shan , Steven Greene M. , Kam Liu Wing
Published: November 2011

We develop a molecular-based hyperelastic model to simulate the size dependent mechanical properties of polymer nano-structures. We assume that polymer chains are confined to a different “tube” size in a boundary layer than that in the core, which alters the free energy and produces the size effect. Simulations also explore anisotropic orientations of polymer chains and surface tension. The axial modulus of nanofibers is studied in detail, although the model is applicable to other systems like thin films and nano-biological systems.
Genetic analysis reveals a distinct and highly diverse koala (Phascolarctos cinereus) population in South Gippsland, Victoria, Australia
Authors: Lee Tristan , Zenger Kyall R. , Close Robert L. , Phalen David N.
Published: November 2011

Population genetics can reveal otherwise hidden information involving a species’ history in a given region. Koalas were thought to have been virtually exterminated from the Australian state of Victoria during the koala fur trade of the late 1800s. Koalas in the South Gippsland region of Victoria were examined using microsatellite markers to infer population structure and gene flow and to locate a possible remnant gene pool. The results indicate that the South Gippsland koala population had higher genetic diversity (A = 5.97, HO = 0.564) than other published Victorian populations, and was genetically distinct from other koala populations examined. South Gippsland koalas, therefore, may have survived the population reductions of the koala fur trade and now represent a remnant Victorian gene pool that has been largely lost from the remainder of Victoria. This paper illustrates that historic anthropogenic impacts have had little effect on reducing the genetic diversity of a population in the South Gippsland region. However, the South Gippsland population is now subject to threats such as logging and loss of habitat from housing and agriculture expansion. Our results suggest that the South Gippsland koalas require an alternative conservation management program.
Unforeseen consequences of a misidentified rodent: case study from the Archipelago of the Recherche, Western Australia
Authors: Burbidge Andrew A. , Abbott Ian , Comer Sarah , Adams Emma , Berry Oliver , Penwarden Kate E.
Published: November 2011

Since 1953, it has been assumed that Rattus rattus occurred on Woody Island, Archipelago of the Recherche, Western Australia, and that R. fuscipes was locally extinct. Recent trapping and identification, including sequencing of mitochondrial DNA, has confirmed the persistence of R. fuscipes. The apparent misidentification of the 1950 specimen and failure to collect vouchers since has led to unforeseen consequences, including a proposal to eradicate the Rattus population.
Responses to a survey question on the distribution of western pygmy-possums (Cercartetus concinnus) on Yorke Peninsula, South Australia
Authors: Waudby Helen P. , Petit Sophie
Published: November 2011

The western pygmy-possum (Cercartetus concinnus) is probably the last remaining small native ground-dwelling mammal on Yorke Peninsula. We surveyed 1013 Yorke Peninsula residents about the distribution of pygmy-possums on the peninsula. Thirteen of 296 respondents had seen pygmy-possums, none north of Minlaton. Two additional possum species had also been seen.
High night temperature decreases leaf photosynthesis and pollen function in grain sorghum
Authors: Prasad P. V. Vara , Djanaguiraman Maduraimuthu
Published: November 2011

High temperature stress is an important abiotic stress limiting sorghum (Sorghum bicolor (L.) Moench) yield in arid and semiarid regions. Climate models project greater increases in the magnitude of night temperature compared with day temperature. We hypothesise that high night temperature (HNT) during flowering will cause oxidative damage in leaves and pollen grains, leading to decreased photosynthesis and seed-set, respectively. The objectives of this research were to determine effects of HNT on (1) photochemical efficiency and photosynthesis of leaves, and (2) pollen functions and seed-set. Sorghum plants (hybrid DK-28E) were exposed to optimum night temperature (ONT; 32 : 22°C, day maximum :  night minimum) or HNT (32 : 28°C, day maximum : night minimum) for 10 days after complete panicle emergence. Exposure to HNT increased thylakoid membrane damage and non-photochemical quenching. However, HNT decreased chlorophyll content, quantum yield of PSII, photochemical quenching, electron transport rate and photosynthesis of leaves as compared with ONT. Exposure to HNT increased the reactive oxygen species (ROS) level of leaves and pollen grains. Lipid molecular species analyses in pollen grains showed that HNT decreased phospholipid saturation levels and altered various phospholipid levels compared with ONT. These changes in phospholipids and greater ROS in pollen grains may be responsible for decreased pollen function, leading to lower seed-set.
Investigation of the domestication of common bean (Phaseolus vulgaris) using multilocus sequence data
Authors: Mamidi Sujan , Rossi Monica , Annam Deepti , Moghaddam Samira , Lee Rian , Papa Roberto , McClean Phillip
Published: November 2011

Multilocus sequence data collected from domesticated and related wild relatives provides a rich source of information on the effect of human selection on the diversity and adaptability of a species to complex environments. To evaluate the domestication history of common bean (Phaseolus vulgaris L.), multilocus sequence data from landraces representing the various races within the Middle American (MA) and Andean gene pools was evaluated. Across 13 loci, nucleotide diversity was similar between landraces and wild germplasm in both gene pools. The diversity data were evaluated using the approximate Bayesian computation approach to test multiple domestication models and estimate population demographic parameters. A model with a single domestication event coupled with bidirectional migration between wild and domesticated genotypes fitted the data better than models consisting of two or three domestication events in each genepool. The effective bottleneck population size was ~50% of the base population in each genepool. The bottleneck began ~8200 and ~8500 years before present and ended at ~6300 and ~7000 years before present in MA and Andean gene pools respectively. Linkage disequilibrium decayed to a greater extent in the MA genepool. Given the (1) geographical adaptation bottleneck in each wild gene pool, (2) a subsequent domestication bottleneck within each gene pool, (3) differentiation into gene-pool specific races and (4) variable extents of linkage disequilibrium, association mapping experiments for common bean would more appropriately be performed within each genepool.
Groundnut (Arachis hypogaea) genotypes tolerant to intermittent drought maintain a high harvest index and have small leaf canopy under stress
Authors: Ratnakumar P. , Vadez V.
Published: November 2011

Intermittent drought, which varies in intensity, severely limits groundnut (Arachis hypogaea L.) yields. Experiments were conducted to assess root development, water uptake, transpiration efficiency, yield components and their relationships, in 20 groundnut genotypes under well watered (WW), and mild (DS-1), medium (DS-2) and severe (DS-3) intermittent stress. Pod yield decreased 70%, 55% and 35% under severe, medium and mild stress, respectively. Pod yield varied among genotypes, and showed significant genotype-by-treatment effects. Root length density (RLD) varied among genotypes before and after stress, although RLD did not discriminate tolerant from sensitive lines. Total water uptake and RLD under water stress had a weakly significant relationship. Water extraction from the soil profile was highest under severe stress. Water uptake varied among genotypes in all water regimes, but correlated with pod yield under WW conditions. The relative harvest index (HI) (i.e. the ratio of the HI under stress to HI under WW conditions) was closely related to the pod yield in all three intermittent stresses (R2 = 0.68 in DS-1; R2 = 0.65 in DS-2; R2 = 0.86 in DS-3) and was used as an index of stress tolerance. Under medium and severe stresses, the relative HI was negatively related to plant leaf weight (R2 = 0.79 in DS-2; R2 = 0.53 in DS-3), but less so under mild stress (R2 = 0.31). The results suggest that under intermittent stress, genotypes with a lower leaf area may use water more sparingly during the drying cycle with less damaging consequences for reproduction and pod.
Generation and scavenging of reactive oxygen species in wheat flag leaves under combined shading and waterlogging stress
Authors: Li Huawei , Cai Jian , Liu Fulai , Jiang Dong , Dai Tingbo , Cao Weixing
Published: November 2011

Wheat (Triticum aestivum L.) plants were subjected to combined waterlogging and shading (WS) at 0–7, 8–15, 16–23 and 24–31 days after anthesis (DAA). WS at 0–7, 8–15, 16–23 and 24–31 DAA caused a yield loss of 17.18%, 14.98%, 7.93% and 7.05%, respectively. These losses were related to reductions in post-anthesis photoassimilate accumulation and 1000-kernel weight. WS reduced net photosynthetic rate (Pn), the maximum efficiency of PSII photochemistry under dark adaptation, actual photosynthetic efficiency and the photochemical quenching coefficient, but increased the quantum yield of quenching. WS caused enhanced concentrations of malondialdehyde and H2O2, and an increased superoxide anion release. Superoxide dismutase and catalase activity were stimulated at 4 days after the onset of WS at 0–7 and 8–15 DAA, but decreased at 8 days after the onset of WS at 0–7, 8–15 and 16–23 DAA. Ascorbate peroxidase, glutathione reductase, dehydroascorbate reductase and monodehydroascorbate reductase activity increased during 0–8 days after the onset of WS at 0–7, 8–15 and 16–23 DAA. At 16–24 DAA, Pn, the level of reactive oxygen species and activity of the antioxidative enzymes fully recovered in plants subjected to WS at 0–7 DAA, but only partially recovered under WS at 8–15 DAA. Expression of the photosythesis-responsive genes RcaB and Cab, and the antioxidative enzyme-related genes Mn-SOD, Cu/Zn-SOD, CAT and GR were consistent with the performance of Pn and the activity of the antioxidative enzymes.
Plant growth-promoting bacteria as a tool to improve salinity tolerance in sweet pepper
Authors: del Amor Francisco M. , Cuadra-Crespo Paula
Published: November 2011

To characterise the effect of bacterial inoculants (Azospirillum brasilense and Pantoea dispersa) on the response of sweet pepper (Capsicum annuum L.) to saline stress, plants were exposed to 0, 40, 80 and 120 mM NaCl in solution. The effect on plant growth; leaf gas exchange; NO3–, Cl–, K+ and Na+ accumulation; and chlorophyll fluorescence and content were investigated. Total plant DW was reduced significantly by salinity but when inoculants were applied, DW was increased. Inoculated plants showed higher DW accumulation in the roots. Salinity levels up to 80 mM NaCl did not affect the net assimilation rate in inoculated plants but 40 mM NaCl was enough to reduce this parameter in non-inoculated plants. The leaf area ratio was not modified substantially by inoculation. The leaf Cl– concentration of inoculated plants was reduced at the highest salinity, compared with control plants, and NO3– concentration increased markedly. A higher K+ : Na+ ratio was found in inoculated plants. Leaf photosynthesis and stomatal conductance were impaired significantly at moderate, but not low, salinity, the effect of inoculation being enough to maintain higher stomatal conductance under higher stress. The photochemical efficiency of PSII and the relative chlorophyll content were not affected by the inoculants. Thus, the effects of the inoculants on the response to salinity were due mainly to stomatal regulation of photosynthesis rather than effects on biochemical limitations on photosynthesis. These results indicate the benefits of these bacterial inoculants in ameliorating the deleterious effect of NaCl in a salt-sensitive crop like sweet pepper.
Premature labour precipitated by highly active antiretroviral therapy: an adverse reaction in a newly diagnosed HIV-positive patient
Authors: Broom Jennifer , Sowden David
Published: November 2011

A pregnant woman was diagnosed with HIV infection at 29 weeks’ gestation. Antiretroviral therapy (ART) of lopinavir–ritonavir and zidovudine–lamivudine was initiated. Ten days later, a hypersensitivity reaction occurred, followed by preterm delivery of the infant 3 days later at 30 weeks’ gestation. Hypersensitivity reactions to ART should prompt urgent consideration of a change in ART to avoid the potential for adverse pregnancy outcomes.
Vascular stiffness and aging in HIV
Authors: Chan William , Dart Anthony M.
Published: November 2011

Large artery stiffening is a biological index of vascular aging. Vascular aging and atherosclerosis are two closely linked processes that develop in parallel and in synergy, sharing common aetiological determinants. Vascular stiffening increases left ventricular work and can lead to diminished coronary perfusion, and may therefore contribute to the development of cardiovascular disease. There is emerging evidence that large artery stiffness and vascular aging are accelerated in HIV infection because of the high prevalence of cardiovascular risk factors among HIV-infected patients. Moreover, the biological effects of HIV and the metabolic perturbations associated with antiretroviral therapies appear to accelerate vascular stiffening in HIV-infected patients. Further studies evaluating the effects of general and targeted therapies and various combinations of antiretroviral therapies on measures of large artery stiffness are urgently needed.
Comparative study of soil properties under various cultivation regimes of different crops
Authors: Nguyen Binh Thanh , Hoa Hai Thien , Ngo Van Thi Hong , Duong Tra Thanh , Wilson Brian R.
Published: November 2011

Establishment of cover crops is an effective way to reverse the soil fertility decline, which can be caused by a range of inappropriate traditional agriculture practices, particularly tillage and inorganic fertiliser application. In this study, soil properties were assessed under various cultivation regimes of different crops, including legumes, grass, and nursery natural rubber (NR) trees (Hevea brasiliensis Muell. Arg.), in southern Vietnam. The crops studied had all been growing for 7 years commencing in 1999, on light-textured Acrisols. Soils under the cultivation regime of creeping legumes including Calopogonium caeruleum, Pueraria phaseoloides, and Stylosanthes gracilis had significantly higher carbon (C) and nitrogen (N) concentrations and porosity than soils under the other management types studied. Soils under Brachiaria ruziziensis and P. phaseoloides had the highest aggregate stability. Cultivation regimes with tillage, field traffic, and inorganic fertilisers applied to nursery NR trees increased phosphorus (P) availability, but this was accompanied by increased soil compaction and reductions in most of the other soil properties analysed. Relative to the nursery NR cultivation, creeping-legume cultivation increased soil C concentration (by 95%), soil pHH2O (by 19%), macro-aggregates (by 29%), and porosity (by 8%). From principal component analysis, three soil properties—soil organic carbon (SOC), porosity, and P availability—were selected as key indicators suitable for the evaluation of the effects of cultivation on soils. Establishment of C. caeruleum and B. ruziziensis was most effective in improving soil C content, and soil porosity was significantly higher under C. caeruleum and P. phaseoloides. These findings suggest that each cover crop had its own dominant agro-characteristics and that selection of a cover crop to either improve soil fertility or reduce compaction should be considered by farmers in this region.
Effects of rotational tillage practices on soil water characteristics and crop yields in semi-arid areas of north-west China
Authors: Hou Xianqing , Jia Zhikuan , Han Qingfang , Li Rong , Wang Wei , Li Yongping
Published: November 2011

Winter wheat (Triticum aestivum L.) is a major crop grown generally in semi-arid areas of north-west China, and water deficiency is the major factor that limits crop yields. Between 2007 and 2010, we conducted a field experiment on winter wheat to investigate the effects of interval with no-tillage and subsoiling (rotational tillage) after crop harvesting on soil water characteristics and crop yields in semi-arid areas of southern Ningxia. Three tillage treatments were tested: no-tillage in year 1, subsoiling in year 2, and no-tillage in year 3 (NT/ST/NT); subsoiling in year 1, no-tillage in year 2, and subsoiling in year 3 (ST/NT/ST); and conventional tillage over years 1–3 (CT). The three-year comparative experiment showed that during the summer fallow, compared with CT, the NT/ST/NT and ST/NT/ST treatments improved mean soil water content at 0–2.0 m depth by 3.9% and 7.8%, respectively, and significantly (P < 0.05) increased mean rainfall storage efficiency by 15.4% and 26.7%. During the wheat growing season, mean soil water content with the NT/ST/NT and ST/NT/ST treatments was significantly higher (P < 0.05) than with the CT treatment (8.0% and 8.6% higher, respectively), and the two rotational tillage treatments significantly (P < 0.05) increased mean rainfall use efficiency compared with CT (by 9.3% and 10.7%, respectively). Yield improvements coupled with greater water-use efficiency occurred with the NT/ST/NT and ST/NT/ST treatments, i.e. mean grain yields were significantly (P < 0.05) increased by 9.6% and 10.7%, respectively, and water-use efficiency was significantly (P < 0.05) improved by 6.7% and 7.8% compared with the CT treatment. The results showed that the interval of no-tillage and subsoiling could improve soil status, and significantly increase crop yields and water-use efficiency. This method could have important applications in the semi-arid areas of north-west China.
Electromagnetic induction sensing of soil identifies constraints to the crop yields of north-eastern Australia
Authors: Dang Y. P. , Dalal R. C. , Pringle M. J. , Biggs A. J. W. , Darr S. , Sauer B. , Moss J. , Payne J. , Orange D.
Published: November 2011

Salinity, sodicity, acidity, and phytotoxic concentrations of chloride (Cl–) in soil are major constraints to crop production in many soils of north-eastern Australia. Soil constraints vary both spatially across the landscape and vertically within the soil profile. Identification of the spatial variability of these constraints will allow farmers to tune management to the potential of the land, which will, in turn, bring economic benefit. For three cropping fields in Australia’s northern grains region, we used electromagnetic induction with an EM38, which measures apparent electrical conductivity of the soil (ECa) and soil sampling to identify potential management classes. Soil Cl– and soluble Na+ concentrations, EC of the saturated extract (ECse), and soil moisture were the principal determinants of the variation of ECa, measured both at the drained upper limit of moisture (UL) and at the lower limit (LL) of moisture extracted by the crop. Grain yield showed a strong negative relation with ECa at both UL and LL, although it was stronger for the latter. We arrive at a framework to estimate the monetary value of site-specific management options, through: (i) identification of potential management classes formed from ECa at LL; (ii) measurement of soil attributes generally associated with soil constraints in the region; (iii) grain yield monitoring; and (iv) simple on-farm experiments. Simple on-farm experiments suggested that, for constrained areas, matching fertiliser application to realistic yield potential, coupled to gypsum amelioration, could potentially benefit growers by AU$14–46/ha.year (fertiliser) and $207/ha.3 years (gypsum).
Introduction
Authors: Firth Helen V. , Hurst Jane A. , Hall Judith G.
Published: November 2011

Adoption 2

Approach to the consultation with a child with dysmorphism, congenital malformation, or developmental delay 4

Autosomal dominant (AD) inheritance 6

Autosomal recessive (AR) inheritance 8

Communication skills 10

Confidentiality 12

Confirmation of diagnosis 14

Consent for genetic testing 16

The genetic code and mutations ...
Clinical approach
Authors: Firth Helen V. , Hurst Jane A. , Hall Judith G.
Published: November 2011

Ambiguous genitalia (including sex reversal) 38

Anal anomalies (atresia, stenosis) 42

Anterior segment eye malformations 46

Arthrogryposis (arthrogryposis multiplex congenita) 48

Ataxic adult 50

Ataxic child 52

Brachydactyly 56

Broad thumbs 58

Cardiomyopathy in children under 10 years 60

Cataract 64

Cerebellar anomalies 66

Cerebral palsy ...
Common consultations
Authors: Firth Helen V. , Hurst Jane A. , Hall Judith G.
Published: November 2011

Achondroplasia 260

Autosomal dominant polycystic kidney disease (ADPKD) 262

X-linked adrenoleukodystrophy (X-ALD) 264

Alpha1-antitrypsin deficiency 266

Alport syndrome 268

Androgen insensitivity syndrome (AIS) 270

Angelman syndrome 272

Autism and autism spectrum disorders 274

Beckwith–Wiedemann syndrome (BWS) 278

Congenital adrenal hyperplasia (CAH) 282

Consanguinity ...
Cancer
Authors: Firth Helen V. , Hurst Jane A. , Hall Judith G.
Published: November 2011

BRCA1 and BRCA2 426

Breast cancer 430

Cancer surveillance methods 434

Colorectal cancer (CRC) 436

Confirmation of diagnosis of cancer 440

Cowden syndrome (CS) 442

Familial adenomatous polyposis (FAP) 444

Gastric cancer 450

Gorlin syndrome 452

Hereditary nonpolyposis colorectal cancer (HNPCC) 454

Juvenile polyposis syndrome (JPS) ...
Chromosomes
Authors: Firth Helen V. , Hurst Jane A. , Hall Judith G.
Published: November 2011

22q11 deletion syndrome490

47,XXX 494

47,XXY 496

47,XYY 498

Autosomal reciprocal translocations—background 500

Autosomal reciprocal translocations—familial 504

Autosomal reciprocal translocations—postnatal 506

Autosomal reciprocal translocations—prenatal 508

Cell division—mitosis, meiosis, and non-disjunction 510

Chromosomal mosaicism—postnatal 514

Chromosomal mosaicism—prenatal 516

Deletions and duplications 520

Down syndrome (trisomy 21) ...
Pregnancy and fertility
Authors: Firth Helen V. , Hurst Jane A. , Hall Judith G.
Published: November 2011

Anterior abdominal wall defects 566

Assisted reproductive technology: in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and pre-implantation genetic diagnosis (PGD) 568

Bowed limbs 572

Club-foot (talipes) 574

Congenital cystic lung lesions, Currarino syndrome, and sacrococcygeal teratoma 576

Congenital diaphragmatic hernia 578

Cytomegalovirus (CMV) 580...
Appendix
Authors: Firth Helen V. , Hurst Jane A. , Hall Judith G.
Published: November 2011

Bayes’ theorem 646

Behavioural pattern profile (Shalev and Hall 2004) 648

Carrier frequency and carrier testing for autosomal recessive disorders 650

Centile charts for boys height and weight 652

Centile charts for girls height and weight 656

Centile charts for occipital-frontal circumference (OFC) 660

CK (Creatine kinase) levels in carriers of Duchenne muscular dystrophy (DMD) ...
Perioperative anaesthetic care and practical procedures
Authors: Kalia P. , Monkhouse D.
Published: November 2011

Preoperative evaluation2

Airway assessment 2

Respiratory system 2

Cardiovascular system 2

Myocardial infarction (MI) and congestive cardiac failure (CCF) 3

Hypertension 3

Valvular and congenital heart disease 3

Diabetes mellitus 3

Renal system 3

Hepatic system 4

Haemopoetic system 4

Pregnancy 4

Social history ...
Theatre procedures and prophylaxis
Authors: Leaper David J.
Published: November 2011

Theatre discipline 30

Patient care in operating theatre 32

Day case surgery 34

Evaluation of X-rays in surgery 36

Prophylaxis of deep vein thrombosis 38

Antibiotic prophylaxis 40

Bowel preparation 42

HIV and AIDS precautions 44

There are many time-honoured procedures in theatre which do not have an accepted evidence base. Nevertheless it would flaunt danger to disregard them, particularly as we currently enjoy the lowest figure of morbidity and mortality despite operating on a sicker and old cohort of patient. There are some downsides; the increase of emergent and resistant organisms such as ...
Anatomy for surgeons
Authors: Di Franco F. , McLatchie G. R.
Published: November 2011

The female breast 46

The endocrine system 48

The respiratory system 52

The abdominal wall 58

The digestive system 64

The appendix 72

The rectum 74

The anal canal 76

The liver 78

The gall bladder and bile ducts 82

The pancreas 84

The genitourinary system ...
Surgical instruments, materials, and the acquisition of surgical skills
Authors: O'Dair G. , McLatchie G. R. , Leaper David J.
Published: November 2011

Introduction 92

Scalpel handles 94

Needle holders 94

Scissors—suture and dissecting 96

Tissue dissecting forceps 98

Tissue holding forceps 98

Artery forceps 100

Hand-held retractors 101

Self-retaining retractors 103

Bowel clamps 107

Vascular instruments 109

Suckers 111

Endoscopic equipment 112

Laparoscopic equipment 116

Suture materials ...
Breast and endocrine surgery
Authors: Lennard T. , Aspinall S.
Published: November 2011

Breast:

Fine needle aspiration cytology 148

Core biopsy 150

Breast conservation surgery—wide local excision 152

Mastectomy 154

Axillary surgery 156

Breast reconstruction 160

Incision and drainage of breast abscess (intermediate) 166

Excision biopsy of breast lump (intermediate) 168

Microdochectomy (intermediate) 170

Hadfield–Adair operation (intermediate) 172...
Upper gastrointestinal surgery
Authors: Viswanath Y. K. S. , Dresner S.
Published: November 2011

Bleeding peptic ulcer disease 186

Perforated peptic ulcer disease 188

Oesophageal rupture and perforation 190

Gastro-oesophageal reflux disease 192

Para-oesophageal hiatus hernia repair 194

Open (Heller's) cardiomyotomy for achalasia 196

Open splenectomy 198

Weight reduction surgery for morbid obesity 200

Radical surgery for gastric cancer ...
Colorectal surgery, appendix, and small bowel
Authors: Agarwal A. K. , Shenfine J. , El-Khalifa H. , Leaper David J.
Published: November 2011

Fissure-in-ano 226

Haemorrhoids 228

Fistula-in-ano 234

Pilonidal sinus 238

Rectal prolapse 240

Acute anorectal infection (abscess) 244

Appendicectomy 246

Excision of Meckel's diverticulum 252

Ileostomy 254

Colostomy 260

Bowel resection and anastomosis 264

Right hemicolectomy 270

Left hemicolectomy 274

Transverse colectomy 280

Sigmoid colectomy 282...
Hepatobiliary surgery
Authors: Carter R. , Imrie C. W.
Published: November 2011

Introduction 306

Investigational procedures 308

Pancreatic mobilisation 310

Management of tumours 312

Management of pancreatic necrosis 316

Management of pseudocyst 318

Management of chronic pancreatitis 320

Common pancreatic complications 322

As the morbidity and mortality associated with pancreatic surgery are amongst the highest in surgical practice, management of patients should take place within the context of multi-disciplinary team and they should be in optimal condition pre-operatively. They may be suffering from exocrine failure, altered glucose tolerance, or altered coagulation due to post-hepatic biliary obstruction. All these issues should be addressed. Most surgical procedures will require blood to be cross-matched....
Laparoscopic surgery
Authors: Rawat S. , Horgan L. , Royston C. M. S.
Published: November 2011

Laparoscopic staging for abdominal malignancies 324

Laparoscopic splenectomy 326

Laparoscopic inguinal hernia repair 328

Laparoscopic Nissen fundoplication 332

Laparoscopic cholecystectomy 336

Laparoscopic appendicectomy 342

Obesity surgery 346

Laparoscopy is an effective and useful tool for the diagnosis and staging of abdominal malignancies. Staging is of paramount importance in planning treatment for localized and advanced disease. It is imperative to accurately identify those patients with a potentially resectable, localized tumour and those patients with advanced disease or distant metastasis. Despite improvements in preoperative staging with dynamic computed tomography (CT) and endoscopic ultrasonography, unexpected liver or peritoneal metastases are found in 10–20% of patients with oesophageal, gastric and pancreatic cancer. The need for laparotomy can therefore be obviated in these patients....
Stapling in surgery
Authors: Kurup V. J. , Gillian A. , Leaper David J.
Published: November 2011

Introduction 352

Stapling technique in anterior resection 354

Stapling technique in oesophagojejunostomy (Roux loop) after transabdominal total gastrectomy 356

Stapling technique for transection of bleeding oesophageal varices 358

Stapling technique for transection of duodenum 360

Stapling technique for gastroenterostomy 362

Stapling technique for bowel resection and functional end-to-end anastomosis ...
Hernias
Authors: Di Franco F. , McLatchie G. R. , Leaper David J.
Published: November 2011

Inguinal hernia 368

Repair of femoral hernia 372

Adult umbilical hernia (Mayo's ‘vest over pants’ repair) 374

Epigastric hernia 376

Incisional hernia 378

• Elective: all symptomatic hernias need operation, particularly if indirect.

• Emergency: irreducible or strangulated hernias.

• Elective: can be performed as a day case in patients fulfilling the criteria. Antibiotic prophylaxis if planning to perform a mesh repair....
Peripheral vascular surgery
Authors: Clason A. E.
Published: November 2011

Arterial anastomosis 380

Exposure of major blood vessels 386

Profundaplasty 396

Endarterectomy 398

Carotid endarterectomy 400

Excision of carotid body tumour 404

Aneurysmal internal carotid artery repair 406

Sympathectomy 408

Repair of abdominal aortic aneurysm 416

Embolectomy 422

Aortoiliac occlusive disease 428

Extra-anatomic bypass 432...
Urology
Authors: King Q. , Harding C.
Published: November 2011

Surgical management of acute urological emergencies

Debridement of Fournier's necrotising fasciitis 476

Exploration of the ‘acute scrotum’ 478

Suprapubic catheter placement 480

Reduction of paraphimosis 482

Shunt procedures for priapism 484

Common urological procedures

Surgical approaches to the kidney, upper ureter, and adrenal gland 486...
Paediatric surgery
Authors: Raine P. , Walker G.
Published: November 2011

Surgery on the newborn 568

Anatomy of the child 570

Fluid and electrolyte management 572

Vascular access 574

Oesophageal atresia 576

Intestinal atresia 578

Gastroschisis 582

Exomphalos (omphalocele) 584

Meconium ileus 586

Hirschsprung's disease 588

Necrotising enterocolitis 590

Sacrococcygeal teratoma 592

Congenital diaphragmatic hernia (CDH) ...
Head and neck surgery
Authors: Dickenson A. J. , Avery B. S.
Published: November 2011

Tracheostomy 640

Thyroglossal cyst excision 644

Thyroidectomy 646

Parathyroidectomy 650

Submandibular gland excision 652

Sublingual gland excision 656

Parotidectomy 658

Neck lump biopsy 664

Neck dissection 666

External carotid artery ligation 670

Excision of branchial cyst, sinus, or fistula 672

Pharyngeal pouch excision 676

Tonsillectomy ...
Thoracic surgery
Authors: Morritt G. N. , Morritt A. N.
Published: November 2011

Bronchoscopy 692

Rigid bronchoscopy 694

Flexible bronchoscopy 696

Cervical mediastinoscopy 698

Anterior mediastinotomy 700

Chest drain insertion: tube thoracostomy 702

Posterolateral thoracotomy 706

Anterolateral thoracotomy 708

Median sternotomy 710

Lobectomy 712

Right upper lobectomy 714

Right middle lobectomy 716

Right lower lobectomy 718

Left upper lobectomy ...
Principles of plastic surgery
Authors: Baguley P.
Published: November 2011

Introduction 760

Anatomy of the integument 762

Normal wound healing 764

Abnormal wound healing 766

Keloids and hypertrophic scars 768

Reconstructive ladder 770

Primary and secondary intention healing 772

Skin grafts 774

Split thickness skin graft 776

Full thickness skin graft 780

Flaps 782

Types of local skin flaps ...
Trauma surgery
Authors: Southward D. , Friesem T.
Published: November 2011

Introduction 814

Needle cricothyroidotomy 816

Surgical cricothyroidotomy 820

Needle thoracocentesis 822

Intercostal drain insertion 824

Venous cutdown 826

Diagnostic peritoneal lavage (DPL) 828

DPL, ultrasound, CT, or laparotomy 830

There are very few surgical procedures that are required in the acute resuscitative phase of trauma management. The priority in trauma management follows the ATLS...
Transplantation
Authors: El-Sheikh M. , Lear P. A.
Published: November 2011

Organ donors 834

Organ recipient preparation 836

Immunosuppression 838

Kidney transplantation 842

Pancreas transplantation 846

Liver transplantation 848

Cardiac transplantation 852

Lung transplantation 854

• The number of patients waiting for transplantation increases by over 3% per year. Cadaveric donor numbers have declined over the past decade....
Nutritional assessment and requirements
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Nutritional assessment 2

Risk factors for undernutrition 3

Nutritional intake 4

Taking a feeding history 5

Basic anthropometry: the assessment of body form 6

Growth 7

Patterns of growth 15

Malnutrition 17

Nutritional requirements 19

Nutritional status reflects the balance between supply and demand and the consequences of any imbalance. Nutritional assessment is therefore the foundation of nutritional care for children. When judging the need for nutritional support an assessment must be made both of the underlying reasons for any feeding difficulties, and of current nutritional status. This process includes a detailed dietary history, physical examination, anthropometry (weight, length; head circumference in younger children) with reference to standard growth charts, and basic laboratory indices when possible. In addition, skin fold thickness and mid-upper arm circumference measurements provide a simple method for estimating body composition....
Breast-feeding
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Benefits of breast-feeding 25

Breast-feeding basics 26

Contraindications to breast-feeding 27

Promotion of breast-feeding 28

Breast milk is the ideal food for infants. The World Health Organization recommends exclusive breast-feeding for at least the first 6 months of life. Until March 2001, the WHO recommended exclusive breast-feeding only for the first 4–6 months of life. This change in policy was based on a systematic review of the published scientific literature which highlighted a protective effect of prolonged breast-feeding against gastrointestinal disease, and confirmed health benefits to mothers. The applicability of these findings to developed countries has been questioned....
Formula and complementary feeding
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Bottle-feeding 32

Type of formula feed 33

Complementary feeding 34

Although the WHO recommends exclusive breast-feeding for 6 months and partial breast-feeding thereafter, it was recognized that some mothers would be unable, or would choose not to breast-feed, and that these mothers also deserved support to optimize their infant's nutrition. It is important that formula feeds are made up according to instructions and that both formula milk and expressed breast milk is handled in a way that minimizes the risk of bacterial proliferation in the feed. Some simple guidelines are given below:
...
The premature newborn
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

General principles 38

Parenteral nutrition 39

Enteral feeding 40

Developments in care for the premature newborn have lead to increasing survival (50% of infants born at 24 weeks gestation) and an increased awareness of the importance of nutrtional support. Many have difficulty tolerating enteral nutrition in the early weeks of life until gastrointestinal motility has matured. Some develop necrotizing enterocolitis (NEC) which carries a high risk of morbidity and mortality, and may be regarded as a failure of adaptation to postnatal life. Optimum nutrition should allow adequate growth in the short term, free of metabolic and other complications, with long-term fulfilment of both genetic growth and developmental potential....
Necrotizing enterocolitis
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Necrotizing enterocolitis 46

Necrotizing enterocolitis (NEC) is the most common gastroenterological emergency in the neonatal intensive care unit (NICU) and the major cause of death for all newborns undergoing surgery. The mortality is greater than that from all the congenital disorders of the gastrointestinal tract combined. Survivors may be left with short-bowel syndrome as well as other long-term gastrointestinal, growth and neurodevelopmental sequelae. NEC frequently presents as feed intolerance with bile-stained gastric residuals, abdominal distension, blood in the stools, apnoea, and acidosis. It may develop insidiously, or be a rapidly progressive illness culminating in shock followed by death. The characteristic finding on abdominal radiograph is intramural gas (pneumatosis), produced by bacteria that have invaded the bowel wall. Other radiographic findings include portal gas, persistently dilated loops of bowel and pneumoperitoneum. Immediate management involves stopping enteral feeding, and giving intravenous fluids with broad-spectrum antibiotics. Blood and platelet transfusion may be required. Hypotheses regarding aetiology include the possibility that enteric bacteria ferment maldigested carbohyhdrate creating an acidic intraluminal environment that adversely affects mucosal blood flow. Immaturity of gastrointestinal motor function, digestion, immunity, and circulation are all implicated in the pathogenesis....
Growth faltering (failure to thrive)
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Factors influencing growth 51

Pitfalls 51

Management 51

Growth faltering or failure to thrive (FTT) is a descriptive term implying failure not only of growth, but also impairment of other aspects of a child's well-being. It is a dynamic process involving a failure to meet expected potential, and there is no universally accepted definition. Weight crossing down two major centile lines is often taken as an indicator of need for referral to a paediatrician. In the absence both of symptoms suggesting specific organ dysfunction (e.g. vomiting, diarrhoea, breathlessness, etc.) and physical findings other than poor growth, an underlying illness is unlikely. It is important to bear in mind common factors influencing growth, such as parental size and ...
Iron deficiency
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Diagnosis 54

Management 55

Iron deficiency is the most common nutritional deficiency in the world, affecting around 5 billion people, most of them from developing countries. The prevalence of iron deficiency anaemia in UK preschool children is ~8%, increasing considerably in inner city children; ~9% of under 5s in the USA are thought to be iron deficient. Depletion of iron stores is followed by the development of anaemia, initially with a normal mean cell volume (MCV). Continuing deficiency leads to impairment of erythropoiesis, with hypochromia and microcytosis apparent on blood film. Iron is essential in haemoglobin for oxygen transport, and is also found in myoglobin, and some enzymes (peroxidase, catalase, and cytochromes). Iron from red blood cell breakdown is recycled and excess iron stored as ferritin and haemosiderin....
Micronutrients and minerals
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

• Vitamin deficiency 58

• Mineral deficiency 61

• Trace element deficiency 62

• Vitamin supplementation for infants and young children 64

The term ‘micronutrients’ includes two main classes of nutrient substances required in the diet in very small amounts: the essential organic micronutrients (vitamins) and the essential inorganic micronutrients (trace elements). Vitamin and mineral deficiencies may complicate malnutrition arising from underlying disease or inadequate diet. Key features are given below. However, micronutrients have wide-ranging effects, far beyond the simple prevention of deficiency states....
Nutrition support teams
Authors: Beattie R. Mark , Dhawan Anil , W.L. Puntis John
Published: November 2011

Malnutrition 68

Suggested core composition of the NST 69

Roles of the NST 69

There has been a considerable increase in the use of intensive nutritional support (both parenteral and enteral) in the management of children with chronic disorders. In addition, awareness of overt or potential malnutrition among hospital inpatients has increased. The identification of those with (or at risk from) malnutrition, and provision of effective nutritional intervention requires a multidisciplinary team approach since the skills required to deal with the details of assessment, prescription, administration, and monitoring of treatment frequently fall outside the remit of a single practitioner....