Changes in access to educational and healthcare services for individuals with intellectual and developmental disabilities during COVID-19 restrictions.

BACKGROUND: COVID-19 restrictions have significantly limited access to in-person educational and healthcare services for all, including individuals with intellectual and developmental disabilities (IDDs). The objectives of this online survey that included both national and international families were to capture changes in access to healthcare and educational services for individuals with IDDs that occurred shortly after restrictions were initiated and to survey families on resources that could improve services for these individuals. METHODS: This was an online survey for caregivers of individuals with (1) a genetic diagnosis and (2) a neurodevelopmental diagnosis, including developmental delay, intellectual disability, autism spectrum disorder or epilepsy. The survey assessed (1) demographics, (2) changes in access to educational and healthcare services and (3) available and preferred resources to help families navigate the changes in service allocation. RESULTS: Of the 818 responses (669 within the USA and 149 outside of the USA), most families reported a loss of at least some educational or healthcare services. Seventy-four per cent of parents reported that their child lost access to at least one therapy or education service, and 36% of respondents lost access to a healthcare provider. Only 56% reported that their child received at least some continued services through tele-education. Those that needed to access healthcare providers did so primarily through telemedicine. Telehealth (both tele-education and telemedicine) was reported to be helpful when available, and caregivers most often endorsed a need for an augmentation of these remote delivery services, such as 1:1 videoconference sessions, as well as increased access to 1:1 aides in the home. CONCLUSIONS: COVID-19 restrictions have greatly affected access to services for individuals with syndromic IDDs. Telehealth may provide opportunities for delivery of care and education in a sustainable way, not only as restrictions endure but also after they have been lifted.

Vibrational dynamics within the embedded-atom-method formalism and the relationship to Born-von-Kármán force constants.

We derive expressions for the dynamical matrix of a crystalline solid with total potential energy described by an embedded-atom-method (EAM) potential. We make no assumptions regarding the number of atoms per unit cell. These equations can be used for calculating both bulk phonon modes as well the modes of a slab of material, which is useful for the study of surface phonons. We further discuss simplifications that occur in cubic lattices with one atom per unit cell. The relationship of Born-von-Kármán (BvK) force constants-which are readily extracted from experimental vibrational dispersion curves-to the EAM potential energy is discussed. In particular, we derive equations for BvK force constants for bcc and fcc lattices in terms of the functions that define an EAM model. The EAM-BvK relationship is useful for assessing the suitability of a particular EAM potential for describing vibrational spectra, which we illustrate using vibrational data from the bcc metals K and Fe and the fcc metal Au.

Thermal conductance of metal-diamond interfaces at high pressure.

The thermal conductance of interfaces between metals and diamond, which has a comparatively high Debye temperature, is often greater than can be accounted for by two-phonon processes. The high pressures achievable in a diamond anvil cell (DAC) can significantly extend the metal phonon density of states to higher frequencies, and can also suppress extrinsic effects by greatly stiffening interface bonding. Here we report time-domain thermoreflectance measurements of metal-diamond interface thermal conductance up to 50 GPa in the DAC for Pb, Au0.95Pd0.05, Pt and Al films deposited on type 1A natural [100] and type 2A synthetic [110] diamond anvils. In all cases, the thermal conductances increase weakly or saturate to similar values at high pressure. Our results suggest that anharmonic conductance at metal-diamond interfaces is controlled by partial transmission processes, where a diamond phonon that inelastically scatters at the interface absorbs or emits a metal phonon.

The drain game: Abdominal drains for transverse rectus abdominis myocutaneous breast reconstruction.

INTRODUCTION: We recently published data for the duration of donor site drain use in latissimus dorsi and deep inferior epigastric perforator breast reconstruction, due to a reported requirement in the literature; evidence is still required for transverse rectus abdominis myocutaneous (TRAM) reconstruction. AIM: To compare inpatient hospital stay, drainage parameters and donor-site complications associated with closed suction abdominal drain removal by post-operative day (POD) 3 regardless of output (early group), versus after POD 3 where instructions were by drainage volume/24 h ± output consistency (late group), in post-mastectomy TRAM breast reconstruction. METHOD: A retrospective review of TRAM breast reconstructions, between June 2008-2013, was undertaken with a minimum 1 year follow-up per patient. RESULTS: Of 65 patients who underwent TRAM breast reconstruction, 56 hospital records contained complete documentation. Both the late (n = 35) and early (n = 21) drain removal group were matched for age and number of donor site drains (2 per patient). Mean drain removal day (5.34 ± 0.20 days vs. 2.67 ± 0.14 days; p < 0.0001), total drainage (797.86 ± 77.15 mls vs. 295.71 ± 29.72 mls; p < 0.0001) and hospital inpatient stay (7.46 ± 0.29 days vs. 6.09 ± 0.32 days; p = 0.003) were greater for patients in the late versus early group. There were no differences in total complications (5.71% (2/35) vs. 14.29% (3/21); p = 0.28), including seroma (2.86% (1/35) vs. 4.76% (1/21); p = 0.71) rates between the late and early groups. DISCUSSION: These data suggest significant advantages for patients who have abdominal drains removed early by POD 3, without increased post-operative complications including seroma rates; these data are in keeping with our LD data. We recommend drain removal by POD 3.

Open-label pilot study of interferon gamma-1b in Friedreich ataxia.

OBJECTIVES/AIMS: This is an open-label trial of the safety of interferon gamma-1b (IFN-γ) and its effect on frataxin levels and neurologic measures in 12 children with Friedreich ataxia. MATERIALS AND METHODS: Interferon gamma-1b was administered via subcutaneous injection three times weekly. The dose increased from 10 to 50 mcg/m(2) during the first four weeks and then remained at 50 mcg/m(2) for final eight weeks. Safety assessments included laboratory testing, electrocardiogram, and monitoring of adverse events. The primary efficacy outcome measure was frataxin level in whole blood. Secondary measures included frataxin levels in multiple tissues, frataxin mRNA levels, Friedreich Ataxia Rating Scale (FARS) scores and other neurologic evaluations. Statistical analyses were performed via SAS and STATA. RESULTS: Interferon gamma-1b was well tolerated with no serious adverse events, and only two subjects reporting severe adverse events and subsequent dose reductions. Small but significant changes in frataxin levels were observed in red blood cells, PBMC, and platelets after 12 weeks of treatment. However, the magnitude of change was small and varied between tissues. Mean improvement in FARS score was equivalent to roughly 18 months of disease progression after 12 weeks of treatment (P = 0.008). No other statistically significant changes were observed. No statistically significant relationships were observed between frataxin protein levels, FARS scores, and in vivo IFN-γ levels. CONCLUSIONS: Interferon gamma-1b improved FARS scores without a clear relationship to changes in frataxin levels. Larger, longer placebo-controlled trials including biochemical assessments in affected tissues are necessary to evaluate fully the efficacy and utility of IFN-γ in FRDA.

Anisotropic failure of Fourier theory in time-domain thermoreflectance experiments.

The applicability of Fourier's law to heat transfer problems relies on the assumption that heat carriers have mean free paths smaller than important length scales of the temperature profile. This assumption is not generally valid in nanoscale thermal transport problems where spacing between boundaries is small (<1 µm), and temperature gradients vary rapidly in space. Here we study the limits to Fourier theory for analysing three-dimensional heat transfer problems in systems with an interface. We characterize the relationship between the failure of Fourier theory, phonon mean free paths, important length scales of the temperature profile and interfacial-phonon scattering by time-domain thermoreflectance experiments on Si, Si0.99Ge0.01, boron-doped Si and MgO crystals. The failure of Fourier theory causes anisotropic thermal transport. In situations where Fourier theory fails, a simple radiative boundary condition on the heat diffusion equation cannot adequately describe interfacial thermal transport.

Thermoreflectance of metal transducers for optical pump-probe studies of thermal properties.

We report measurements of the temperature dependence of the optical reflectivity, dR/dT of fifteen metallic elements at a wavelength of λ = 1.03 µm by time-domain thermoreflectance (TDTR); and the thermoreflectance of thin-films of Pt, Ta, Al, Au, SrRuO(3), and LaNiO(3) over the wavelength range 0.4 < λ < 1.6 µm using variable angle spectroscopic ellipsometry. At λ = 1.03 µm, Al, Ta, Re, Ru, have high values of thermoreflectance, dR/dT > 6∙10(-5) K(-1), and are good choices as optical transducers for TDTR experiments using a Yb:fiber laser oscillator. If low optical reflectivity and the associated high degree of steady-state heating are not a concern, LaNiO(3) provides an exceptionally sensitive thermometer in the infrared; (1/R)(dR/dT) > 2.5∙10(-4) K(-1) in the wavelength range 0.85 < λ < 1.3 µm. This compilation of data will assist in the design and interpretation of optical pump-probe studies of thermal properties.

Experimental validation of the interfacial form of the Wiedemann-Franz law.

The thermal conductivity of four Pd/Ir metal multilayers of total thickness 390 nm with 40, 80, 120, and 200 Pd/Ir interfaces are measured at temperatures between 78 and 295 K using time-domain thermoreflectance. The thermal interface conductance G of the Pd/Ir interface is derived from the differences in thermal conductivity between the multilayers. A comparison of G to previously reported data for the electronic specific resistance of the Pd/Ir interface at 4 K supports the validity of the interfacial form of the Wiedemann-Franz law. The Lorenz number deduced from this comparison is within 10% of the Sommerfeld value at all temperatures, well within the experimental uncertainties of ≈ 20%.

An embedded-atom-method model for alkali-metal vibrations.

We present an embedded-atom-method (EAM) model that accurately describes the vibrational dynamics in the alkali metals Li, Na, K, Rb and Cs. The bulk dispersion curves, frequency-moment Debye temperatures and temperature-dependent entropy Debye temperatures are all in excellent agreement with experimental results. The model is also well suited for studying surface vibrational dynamics in these materials, as illustrated by calculations for the Na(110) surface.

Correlation of CT angiographic pulmonary artery obstruction scores with right ventricular dysfunction and clinical outcome in patients with acute pulmonary embolism.

OBJECTIVE: To correlate CTA pulmonary artery obstruction scores (OS) with right ventricular dysfunction (RVD) and clinical outcome in patients with acute pulmonary embolism (PE). MATERIALS AND METHODS: In a prospective study of 50 patients (66 ± 12.9 years) with PE pulmonary artery OS (Qanadli, Mastora, and Mastora central) were assessed by two radiologists. To assess RVD all patients underwent echocardiography within 24h. Furthermore, RVD on CT was assessed by calculating the right ventricular/left ventricular (RV/LV) diameter ratios on transverse (RV/LVtrans) and four-chamber views (RV/LV4ch) as well as the RV/LV volume ratio (RV/LVvol). OS were correlated with RVD and the occurrence of adverse clinical outcomes (defined as death, need for intensive care treatment, or cardiac insufficiency ≥ NYHA III). RESULTS: Mean Mastora, Qanadli, and Mastora central OS were 26.4 ± 17.7, 12.6 ± 9.9 and 7.5 ± 9, respectively. Echocardiography demonstrated moderate and severe RVD in 10 and 5 patients, respectively. Patients with moderate and severe RVD showed significantly higher Mastora central scores than patients without RVD (14 ± 10.8 vs. 5.9 ± 7.8 [p=0.05]; 17.6 ± 13.2 vs. 5.9 ± 7.8 [p=0.038]). A relevant correlation (i.e. r ≥ 0.6) between OS and CT parameters for RVD were only found for the Mastora score and the Mastora central score (RV/LV4ch: r=0.61 and 0.68, RV/LVvol: r=0.61 and 0.6). 18 patients experienced an adverse clinical outcome. None of the OS differed significantly between patients with and without adverse clinical outcome. CONCLUSION: Pulmonary artery obstruction scores can differentiate between patients with and without RVD. However, in this study, obstruction scores were not correlated to adverse clinical outcome.

Superior mesenteric artery syndrome: diagnosis and treatment strategies.

INTRODUCTION: Superior mesenteric artery (SMA) syndrome is an unusual cause of vomiting and weight loss resulting from the compression of the third part of the duodenum by the SMA. Various medical and psychiatric conditions may result in the initial rapid weight loss which causes narrowing of the aortomesenteric angle. The vomiting and obstructive syndrome is then self-perpetuated regardless of the initiating factors. The young age and nonspecific symptoms often lead to a delay in diagnosis. DISCUSSION: A series of eight cases is presented reviewing the presentation, investigations, surgical treatment by division of duodenum and duodenojejunostomy, and outcomes. CONCLUSION: SMA syndrome is a well-described entity which must be considered as a cause of vomiting associated with significant weight loss in young adults. Surgical treatment should be allied with psychological assessment to treat any underlying psychosocial abnormality.

Observation of period multiplication and instability in a dc glow discharge.

The temporal dynamics in the fluctuations of the plasma floating potentials from an undriven dc glow discharge argon plasma at an intermediate gas pressure of 250mTorr and at the range of discharge currents I=6-50mA are investigated. In this study, the discharge current I is used as the plasma system's bifurcation parameter in analogy with the parameter space of a numerical dynamical system. Over several regions of the discharge current, the floating potential fluctuation time series data has been indicative of random noise, periodic oscillations, and irregular fluctuations. As the bifurcation parameter (discharge current) is increased, the Fourier spectrum of the data shows increased signs of period multiplication, quasiperiodicity, and instabilities. In addition, the computations of the correlation dimension provide some insight into the complex nature of the instabilities in the glow discharge plasma.

Characterization of multidrug resistant Salmonella recovered from diseased animals.

Three hundred and eighty Salmonella isolates recovered from animal diagnostic samples obtained from four state veterinary diagnostic laboratories (AZ, NC, MO, and TN) between 2002 and 2003 were tested for antimicrobial susceptibilities and further characterized for bla(CMY) beta-lactamase genes, class 1 integrons and genetic relatedness using PFGE. Forty-seven serovars were identified, the most common being S. Typhimurium (26%), S. Heidelberg (9%), S, Dublin (8%), S. Newport (8%), S. Derby (7%), and S. Choleraesuis (7%). Three hundred and thirteen (82%) isolates were resistant to at least one antimicrobial, and 265 (70%) to three or more antimicrobials. Resistance was most often observed to tetracycline (78%), followed by streptomycin (73%), sulfamethoxazole (68%), and ampicillin (54%), and to a lesser extent chloramphenicol (37%), kanamycin (37%), amoxicillin-clavulanic acid (20%), and ceftiofur (17%). With regards to animal of origin, swine Salmonella isolates displayed the highest rate of resistance, being resistant to at least one antimicrobial (92%), followed by those recovered from turkey (91%), cattle (77%), chicken (68%), and equine (20%). Serovars commonly showing multidrug resistance (MDR) to > or =9 antimicrobials were S. Uganda (100%), S. Agona (79%), and S. Newport (62%), compared to S. Heidelberg (11%) and S. Typhimurium (7%). Class-1 integrons were detected in 43% of all isolates, and were found to contain aadA, aadB, dhfr, cmlA and sat1 gene cassettes alone or in various combinations. All ceftiofur resistant isolates (n=66) carried the bla(CMY) beta-lactamase gene. A total of 230 PFGE patterns were generated among the 380 isolates tested using XbaI, indicating extensive genetic diversity across recovered Salmonella serovars, however, several MDR clones were repeatedly recovered from different diseased animals.

Measuring Friedreich ataxia: complementary features of examination and performance measures.

OBJECTIVE: To examine the potential validity of performance measures and examination-based scales in Friedreich ataxia (FA) by examining their correlation with disease characteristics. METHODS: The authors assessed the properties of a candidate clinical outcome measure, the Friedreich Ataxia Rating Scale (FARS), and simple performance measures (9-hole peg test, the timed 25-foot walk, PATA test, and low-contrast letter acuity) in 155 patients with FA from six institutions, and correlated the scores with disease duration, functional disability, activity of daily living scores, age, and shorter GAA repeat length to assess whether these measures capture the severity of neurologic dysfunction in FA. RESULTS: Scores for the FARS and performance measures correlated significantly with functional disability, activities of daily living scores, and disease duration, showing that these measures meet essential criteria for construct validity for measuring the progressive nature of FA. In addition, the FARS and transformed performance measures scores were predicted by age and shorter GAA repeat length in linear regression models accounting for sex and testing site. Correlations between performance measures were moderate in magnitude, suggesting that each test captures separate yet related dimensions of neurologic function in FA and that a composite measure might better predict disease status. Composite measures created using cohort means and standard deviations predicted disease status better than or equal to single performance measures or examination-based measures. CONCLUSIONS: The Friedreich Ataxia Rating Scale, performance measures, and performance measure composites provide valid assessments of disease progression in Friedreich ataxia.

Atendimento médico de urgência na Grande Säo Paulo / Medical emergency system in the metropolitan area of Säo Paulo

Analisa-se a situaçäo do atendimento às emergências médicas na Regiäo Metropolitana de Säo Paulo, durante o ano de 1999, examinando toda a legislaçäo pertinente, descrevendo o processo de atendimento observado em um Plantäo Controlador Regional (PCR) e verificando a adequaçäo dos procedimentos adotados às normas que regem o setor e ao efetivo atendimento da demanda. Foram analisados documentos, realizadas entrevistas e observaçäo do funcionamento do sistema, com um pesquisador no PCR, ao mesmo tempo em que outros acompanhavam os chefes dos plantöes nos três hospitais gerais. Descreve-se a história oral da criaçäo do sistema e a rotina dos serviços, onde se verificou que faltavam plantonistas no PCR; que os médicos responsáveis pelos plantöes da emergência, näo obedeciam a mesma rotina de procedimentos; que muitas pessoas, inclusive os médicos plantonistas, näo sabiam o que é o PCR; que muitas vezes a falta de transporte impediu a transferência; que os Serviços de Arquivo Médico e de Estatísticas dos hospitais pesquisados säo desatualizados; que faltam recursos materiais e humanos. Apesar de a amostra näo permitir generalizaçöes, constatou-se que faltam leitos para UTI Neonatal; que os motivos mais frequentes para a solicitaçäo de recursos foram: falta de leito, falta ou quebra de equipamento e falta de profissional; que as solicitaçöes tiveram, na quase totalidade dos casos, uma primeira resposta negativa, cujos motivos mais frequentes eram a falta de vaga, o equipamento näo estar disponível e a indisponibilidade de transporte; que a maioria dos casos chegou ao PCR depois de ter procurado solucionar seu problema por conta própria, alegando a demora no encontro da soluçäo como justificativa para esse comportamento. Com base na normalizaçäo do sistema e na análise de experiências internacionais, säo feitas sugestöes para a eficaz implementaçäo de um sistema metropolitano de atendimento à emergência médica na Grande Säo Paulo

Heteroduplex formation in SMN gene dosage analysis.

Most spinal muscular atrophy patients lack both copies of SMN1 exon 7 and most carriers have only one copy of SMN1 exon 7. We investigated the effect of SMN1/SMN2 heteroduplex formation on SMN gene dosage analysis, which is an assay to determine copy number of SMN1 exon 7 that utilizes multiplex quantitative polymerase chain reaction (PCR) with DraI digestion to differentiate SMN1 from SMN2. Heteroduplex formation in PCR is a well-described phenomenon. In addition to demonstrating the presence of heteroduplexes by sequence analysis of purified SMN1 bands, we compared the SMN1 signals in various genotype groups (total n = 260) to those in a group lacking SMN2 (n = 13), and we estimated the relative amounts of SMN1/SMN2 heteroduplexes. The SMN1 signal increased as SMN2 copy number increased despite a constant SMN1 copy number, although not all pairwise comparisons showed a statistically significant difference in the SMN1 signal. In conclusion, SMN1/SMN2 heteroduplexes form in SMN gene dosage analysis, falsely increasing the SMN1 signal. External controls for SMN gene dosage analysis should be chosen carefully with regard to SMN2 copy number. The effect of heteroduplex formation should be considered when performing quantitative multiplex PCR.

Detection of clonal T-cell receptor gamma gene rearrangements using fluorescent-based PCR and automated high-resolution capillary electrophoresis.

BACKGROUND: Analysis of T-cell receptor gamma (TCR gamma) gene rearrangements by PCR is a powerful tool for detecting clonal T-cell populations for the diagnosis of lymphoid neoplasms. We report a method for TCR gamma PCR analysis using capillary electrophoresis (CE). METHODS AND RESULTS: To define the threshold for identification of a predominant monoclonal population within a polyclonal background, we developed a novel objective parameter of the peak height ratio (Rn) of the peak of interest and the average of the two immediate flanking peaks. After evaluation of monoclonal, reactive, and normal T-cell populations, an Rn of 3.0 or greater was determined to be consistent with a monoclonal population, whereas an Rn between 1.9 and 3.0 was considered an intermediate range. This CE method was compared with the standard denaturing gradient gel electrophoresis (DGGE) method using previously evaluated clinical specimens. Eleven of 12 clinical specimens (92%) with a definitive diagnosis of T-cell lymphoma were monoclonal by CE, with 100% concordance with the DGGE method. Of nine specimens morphologically suspicious for T-cell lymphoma, five specimens were positive by CE analysis compared with four specimens by DGGE. In addition, 14 specimens for staging from patients with known T-cell lymphoma were studied using both the CE and DGGE methods, with a concordance of 86%. CONCLUSION: CE is a powerful and efficient method for analysis of clonality by TCR gamma PCR.

Epidemiology of feline infectious peritonitis among cats examined at veterinary medical teaching hospitals.

OBJECTIVE: To determine proportions of cats in which feline infectious peritonitis (FIP) was diagnosed on an annual, monthly, and regional basis and identify unique characteristics of cats with FIP. DESIGN: Case-control study. SAMPLE POPULATION: Records of all feline accessions to veterinary medical teaching hospitals (VMTH) recorded in the Veterinary Medical Data Base between January 1986 and December 1995 and of all feline accessions for necropsy or histologic examination at 4 veterinary diagnostic laboratories. PROCEDURE: Proportions of total and new feline accessions for which a diagnosis of FIP was recorded were calculated. To identify characteristics of cats with FIP, cats with FIP were compared with the next cat examined at the same institution (control cats). RESULTS: Approximately 1 of every 200 new feline and 1 of every 300 total feline accessions at VMTH in North America and approximately 1 of every 100 accessions at the diagnostic laboratories represented cats with FIP. Cats with FIP were significantly more likely to be young, purebred, and sexually intact males and significantly less likely to be spayed females and discharged alive than were control cats. The proportion of new accessions for which a diagnosis of FIP was recorded did not vary significantly among years, months, or regions of the country. CONCLUSIONS AND CLINICAL RELEVANCE: Results indicated that FIP continues to be a clinically important disease in North America and that sexually intact male cats may be at increased risk, and spayed females at reduced risk, for FIP. The high prevalence of FIP and lack of effective treatment emphasizes the importance of preventive programs, especially in catteries.