Point defects and texture of Pd1-xInx sputtered intermetallic thin films

Pd1-xInx thin films (0.4 < x < 0.56) were prepared by radio frequency sputtering from a multi-zone target. The properties of these Hume-Rothery alloys were studied by X-ray diffractometry, electron probe microanalysis and scanning tunneling microscopy. The diffraction spectra were analyzed to obtain the intensity ratio of the (100) superlattice line to the (200) normal line, together with the variations of the lattice constant. The results ape explained quantitatively by a model based on point defects, i.e. Pd vacancies in In-rich films and Pd antisite atoms in Pd-rich films. In-rich films grow preferentially in the [100] direction while Pd-rich films grow preferentially in the [110] direction. The grains in indium-rich sputtered films appear to be enclosed in an atomically thick, indium-rich layer. The role of texture and the influence of point defects on electrical resistivity is also reported. (C) 1996 Elsevier Science Limited.

The use of 3D planning in facial surgery: Preliminary observations.

Three-dimensional (3D) planning is becoming a more commonly used tool in maxillofacial surgery. At first used only virtually, 3D planning now also enables the creation of useful intraoperative aids such as cutting guides, which decrease the operative difficulty. In our center, we have used 3D planning in various domains of facial surgery and have investigated the advantages of this technique. We have also addressed the difficulties associated with its use. 3D planning increases the accuracy of reconstructive surgery, decreases operating time, whilst maintaining excellent esthetic results. However, its use is restricted to osseous reconstruction at this stage and once planning has been undertaken, it cannot be reversed or altered intraoperatively. Despite the attractive nature of this new tool, its uses and practicalities must be further evaluated. In particular, cost-effectiveness, hospital stay, and patient perceived benefits must be assessed.

Le traitement chirurgical de la paralysie faciale définitive [Surgical facial reanimation after persisting facial paralysis].

Facial reanimation following persistent facial paralysis can be managed with surgical procedures of varying complexity. The choice of the technique is mainly determined by the cause of facial paralysis, the age and desires of the patient. The techniques most commonly used are the nerve grafts (VII-VII, XII-VII, cross facial graft), dynamic muscle transfers (temporal myoplasty, free muscle transfert) and static suspensions. An intensive rehabilitation through specific exercises after all procedures is essential to archieve good results.

Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa.

Retinitis pigmentosa (RP) is a hereditary disease that leads to the progressive degeneration of retinal photoreceptor cells and to blindness. It is caused by mutations in several distinct genes, including the ciliary gene FAM161A, which is associated with a recessive form of this disorder. Recent investigations have revealed that defects in FAM161A represent a rather prevalent cause of hereditary blindness in Israel and the Palestinian territories, whereas they seem to be rarely present within patients from Germany. Genetic or clinical data are currently not available for other countries. In this work, we screened a cohort of patients with recessive RP from North America to determine the frequency of FAM161A mutations in this ethnically-mixed population and to assess the phenotype of positive cases. Out of 273 unrelated patients, only 3 subjects had defects in FAM161A. A fourth positive patient, the sister of one of these index cases, was also identified following pedigree analysis. They were all homozygous for the p.T452Sfx3 mutation, which was previously reported as a founder DNA variant in the Israeli and Palestinian populations. Analysis of cultured lymphoblasts from patients revealed that mutant FAM161A transcripts were actively degraded by nonsense-mediated mRNA decay. Electroretinographic testing showed 30 Hz cone flicker responses in the range of 0.10 to 0.60 microvolts in all cases at their first visit (age 12 to 23) (lower norm  =  50 μV) and of 0.06 to 0.32 microvolts at their most recent examination (age 27 to 43), revealing an early-onset of this progressive disease. Our data indicate that mutations in FAM161A are responsible for 1% of recessive RP cases in North America, similar to the prevalence detected in Germany and unlike the data from Israel and the Palestinian territories. We also show that, at the molecular level, the disease is likely caused by FAM161A protein deficiency.

A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome.

BACKGROUND: The SCN5A gene encodes for the α-subunit of the cardiac sodium channel NaV1.5, which is responsible for the rapid upstroke of the cardiac action potential. Mutations in this gene may lead to multiple life-threatening disorders of cardiac rhythm or are linked to structural cardiac defects. Here, we characterized a large family with a mutation in SCN5A presenting with an atrioventricular conduction disease and absence of Brugada syndrome. METHOD AND RESULTS: In a large family with a high incidence of sudden cardiac deaths, a heterozygous SCN5A mutation (p.1493delK) with an autosomal dominant inheritance has been identified. Mutation carriers were devoid of any cardiac structural changes. Typical ECG findings were an increased P-wave duration, an AV-block I° and a prolonged QRS duration with an intraventricular conduction delay and no signs for Brugada syndrome. HEK293 cells transfected with 1493delK showed strongly (5-fold) reduced Na(+) currents with altered inactivation kinetics compared to wild-type channels. Immunocytochemical staining demonstrated strongly decreased expression of SCN5A 1493delK in the sarcolemma consistent with an intracellular trafficking defect and thereby a loss-of-function. In addition, SCN5A 1493delK channels that reached cell membrane showed gain-of-function aspects (slowing of the fast inactivation, reduction in the relative fraction of channels that fast inactivate, hastening of the recovery from inactivation). CONCLUSION: In a large family, congregation of a heterozygous SCN5A gene mutation (p.1493delK) predisposes for conduction slowing without evidence for Brugada syndrome due to a predominantly trafficking defect that reduces Na(+) current and depolarization force.

Spectrum of congenital anomalies in pregnancies with pregestational diabetes.

BACKGROUND: Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies. METHODS: Data from 18 population-based EUROCAT registries of congenital anomalies in 1990-2005. All malformed cases occurring to mothers with pregestational diabetes (diabetes cases) were compared to all malformed cases in the same registry areas to mothers without diabetes (non-diabetes cases). RESULTS: There were 669 diabetes cases and 92,976 non diabetes cases. Odds ratios in diabetes pregnancies relative to non-diabetes pregnancies comparing each EUROCAT subgroup to all other non-chromosomal anomalies combined showed significantly increased odds ratios for neural tube defects (anencephaly and encephalocele, but not spina bifida) and several subgroups of congenital heart defects. Other subgroups with significantly increased odds ratios were anotia, omphalocele and bilateral renal agenesis. Frequency of hip dislocation was significantly lower among diabetes (odds ratio 0.15, 95% CI 0.05-0.39) than non-diabetes cases. Multiple congenital anomalies were present in 13.6 % of diabetes cases and 6.1 % of non-diabetes cases. The odds ratio for caudal regression sequence was very high (26.40,95% CI 8.98-77.64), but only 17% of all caudal regression cases resulted from a pregnancy with pregestational diabetes. CONCLUSIONS: The increased risk of congenital anomalies in pregnancies with pregestational diabetes is related to specific non-chromosomal congenital anomalies and multiple congenital anomalies and not a general increased risk.

Mikrovaskulär anastomosierte Transplantate : Verwendung in der Kopf-Hals-Region nach Bestrahlung und Gefäßdepletion [Grafts with microvascular anastomosis : Their use in the head and neck region following radiotherapy and vessel depletion].

Surgical tumor removal is often the treatment of choice in patients with head and neck squamous cell carcinoma. Depending on the extent of tumor resection, large defects are often produced in the individual head and neck regions, necessitating reconstructive surgery to avoid further functional impairment. In principle, this decision depends on the size and location of the defect, the aesthetic importance of the region and the functional significance of the area to be replaced. Reconstructive free flap procedures in patients who have undergone radiotherapy or exhibit vessel depletion in the neck due to multiple previous surgical interventions are particularly challenging. In order to ensure the best possible outcomes of surgical oncology therapies under difficult circumstances, this paper discusses the important factors and variables that can increase the success rate of microvascular grafts in irradiated or multiply resected patients.

Light induced defects in thermal annealed hydrogenated amorphous silicon

The metastable defects of a-Si:H samples annealed at temperatures in the 300-550°C range have been studied by photothermal deflection spectroscopy (PDS). The light-soaked samples show an increase in optical absorption in the 0.8 to 1.5 eV range. The metastable defect density decreases when the annealing temperature increases, while the defect density increases. This decrease in the metastable defect density shows an almost linear correlation with the decrease in the hydrogen content of the samples, determined by IR transmission spectroscopy and thermal desorption spectroscopy.

Nucleation of diamond on silicon, SiAlON, and graphite substrates coated with an a-C:H layer

We investigated the influence of a hydrogenated disordered carbon (a-C:H) layer on the nucleation of diamond. Substrates c-Si<100>, SiAlON, and highly oriented pyrolytic graphite {0001} were used in this study. The substrate surfaces were characterized with Auger electron spectroscopy (AES) while diamond growth was followed with Raman spectroscopy and scanning electron microscopy (SEM). It was found that on silicon and SiAlON substrates the presence of the a-C:H layer enabled diamond to grow readily without any polishing treatment. Moreover, more continuous diamond films could be grown when the substrate was polished with diamond powder prior to the deposition of the a-C:H layer. This important result suggests that the nucleation of diamond occurs readily on disordered carbon surfaces, and that the formation of this type of layer is indeed one step in the diamond nucleation mechanism. Altogether, the data refute the argument that silicon defects play a direct role in the nucleation process. Auger spectra revealed that for short deposition times and untreated silicon surfaces, the deposited layer corresponds to an amorphous carbon layer. In these cases, the subsequent diamond nucleation was found to be limited. However, when the diamond nucleation density was found to be high; i.e., after lengthy deposits of a¿C:H or after diamond polishing, the Auger spectra suggested diamondlike carbon layers.

Automatic Prediction of Facial Trait Judgments: Appearance vs. Structural Models

Evaluating other individuals with respect to personality characteristics plays a crucial role in human relations and it is the focus of attention for research in diverse fields such as psychology and interactive computer systems. In psychology, face perception has been recognized as a key component of this evaluation system. Multiple studies suggest that observers use face information to infer personality characteristics. Interactive computer systems are trying to take advantage of these findings and apply them to increase the natural aspect of interaction and to improve the performance of interactive computer systems. Here, we experimentally test whether the automatic prediction of facial trait judgments (e.g. dominance) can be made by using the full appearance information of the face and whether a reduced representation of its structure is sufficient. We evaluate two separate approaches: a holistic representation model using the facial appearance information and a structural model constructed from the relations among facial salient points. State of the art machine learning methods are applied to a) derive a facial trait judgment model from training data and b) predict a facial trait value for any face. Furthermore, we address the issue of whether there are specific structural relations among facial points that predict perception of facial traits. Experimental results over a set of labeled data (9 different trait evaluations) and classification rules (4 rules) suggest that a) prediction of perception of facial traits is learnable by both holistic and structural approaches; b) the most reliable prediction of facial trait judgments is obtained by certain type of holistic descriptions of the face appearance; and c) for some traits such as attractiveness and extroversion, there are relationships between specific structural features and social perceptions.

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.

OBJECTIVE: To develop and compare two new technologies for diagnosing a contiguous gene syndrome, the Williams-Beuren syndrome (WBS). METHODS: The first proposed method, named paralogous sequence quantification (PSQ), is based on the use of paralogous sequences located on different chromosomes and quantification of specific mismatches present at these loci using pyrosequencing technology. The second exploits quantitative real time polymerase chain reaction (QPCR) to assess the relative quantity of an analysed locus. RESULTS: A correct and unambiguous diagnosis was obtained for 100% of the analysed samples with either technique (n = 165 and n = 155, respectively). These methods allowed the identification of two patients with atypical deletions in a cohort of 182 WBS patients. Both patients presented with mild facial anomalies, mild mental retardation with impaired visuospatial cognition, supravalvar aortic stenosis, and normal growth indices. These observations are consistent with the involvement of GTF2IRD1 or GTF2I in some of the WBS facial features. CONCLUSIONS: Both PSQ and QPCR are robust, easy to interpret, and simple to set up. They represent a competitive alternative for the diagnosis of segmental aneuploidies in clinical laboratories. They have advantages over fluorescence in situ hybridisation or microsatellites/SNP genotyping for detecting short segmental aneuploidies as the former is costly and labour intensive while the latter depends on the informativeness of the polymorphisms.

High-altitude exposure in patients with cardiovascular disease: risk assessment and practical recommendations.

Because of the development of modern transportation facilities, an ever rising number of individuals including many patients with preexisting diseases visit high-altitude locations (>2500 m). High-altitude exposure triggers a series of physiologic responses intended to maintain an adequate tissue oxygenation. Even in normal subjects, there is enormous interindividual variability in these responses that may be further amplified by environmental factors such as cold temperature, low humidity, exercise, and stress. These adaptive mechanisms, although generally tolerated by most healthy subjects, may induce major problems in patients with preexisting cardiovascular diseases in which the functional reserves are already limited. Preexposure assessment of patients helps to minimize risk and detect contraindications to high-altitude exposure. Moreover, the great variability and nonpredictability of the adaptive response should encourage physicians counseling such patients to adapt a cautionary approach. Here, we will briefly review how high-altitude adjustments may interfere with and aggravate/decompensate preexisting cardiovascular diseases. Moreover, we will provide practical recommendations on how to investigate and counsel patients with cardiovascular disease desiring to travel to high-altitude locations.

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.

The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with SGBS1 who presents a novel GPC3 mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd-3rd finger syndactyly.

The effect of lattice defects on Hele-Shaw flow over an etched lattice

We examine the patterns formed by injecting nitrogen gas into the center of a horizontal, radial Hele-Shaw cell filled with paraffin oil. We use smooth plates and etched plates with lattices having different amounts of defects (010 %). In all cases, a quantitative measure of the pattern ramification shows a regular trend with injection rate and cell gap, such that the dimensionless perimeter scales with the dimensionless time. By adding defects to the lattice, we observe increased branching in the pattern morphologies. However, even in this case, the scaling behavior persists. Only the prefactor of the scaling function shows a dependence on the defect density. For different lattice defect densities, we examine the nature of the different morphology phases.

Coming into Focus A Needs Assessment and State Plan for Iowans with Brain Injury, November 1998

Coming Into Focus presents a needs assessment related to Iowans with brain injury, and a state action plan to improve Iowa’s ability to meet those needs. Support for this project came from a grant from the Office of Maternal and Child Health to the Iowa Department of Public Health, Iowa’s lead agency for brain injury. The report is a description of the needs of people with brain injuries in Iowa, the status of services to meet those needs and a plan for improving Iowa’s system of supports. Brain injury can result from a skull fracture or penetration of the brain, a disease process such as tumor or infection, or a closed head injury, such as shaken baby syndrome. Traumatic brain injury is a leading cause of death and disability in children and young adults (Fick, 1997). In the United States there are as many as 2 million brain injuries per year, with 300,000 severe enough to require hospitalization. Some 50,000 lives are lost every year to TBI. Eighty to 90 thousand people have moderate to acute brain injuries that result in disabling conditions which can last a lifetime. These conditions can include physical impairments, memory defects, limited concentration, communication deficits, emotional problems and deficits in social abilities. In addition to the personal pain and challenges to survivors and their families, the financial cost of brain injuries is enormous. With traumatic brain injuries, it is estimated that in 1995 Iowa hospitals charged some $38 million for acute care for injured persons. National estimates offer a lifetime cost of $4 million for one person with brain injury (Schootman and Harlan, 1997). With this estimate, new injuries in 1995 could eventually cost over $7 billion dollars. Dramatic improvements in medicine, and the development of emergency response systems, means that more people sustaining brain injuries are being saved. How can we insure that supports are available to this emerging population? We have called the report Coming into Focus, because, despite the prevalence and the personal and financial costs to society, brain injury is poorly understood. The Iowa Department of Public Health, the Iowa Advisory Council on Head Injuries State Plan Task Force, the Brain Injury Association of Iowa and the Iowa University Affiliated Program have worked together to begin answering this question. A great deal of good information already existed. This project brought this information together, gathered new information where it was needed, and carried out a process for identifying what needs to be done in Iowa, and what the priorities will be.