A case of fulminant respiratory diphtheria in a 24-year-old Afghan refugee in Austria in May 2022: a case report.

PURPOSE: Raising awareness of respiratory diphtheria and for the importance of early antitoxin administration. METHODS: Report of a case of fulminant, imported respiratory diphtheria in an otherwise healthy 24-year-old Afghan refugee in Austria in May 2022. RESULT: This was the first case of respiratory diphtheria in Austria since 1993. Diphtheria antitoxin was administered at an already progressed disease stage. This delay contributed to a fulminant disease course with multiorgan failure and death. CONCLUSION: In high-income countries with low case numbers, awareness of respiratory diphtheria and for the importance of early antitoxin administration must be raised.

Consequences of applying the new EWGSOP2 guideline instead of the former EWGSOP guideline for sarcopenia case finding in older patients.

INTRODUCTION: we examined the consequences of applying the new EWGSOP2 algorithm for sarcopenia screening instead of the former EWGSOP algorithm (EWGSOP1) in geriatric inpatients. METHODS: the dataset of our formerly published Sarcopenia in Geriatric Elderly (SAGE) study includes 144 geriatric inpatients (86 women, 58 men, mean age 80.7±5.6 years) with measurements of gait speed, handgrip strength and appendicular muscle mass by dual x-ray absorptiometry (DXA). We analysed the agreement between EWGSOP and EWGSOP2 algorithms in identifying patients as sarcopenic/non-sarcopenic. Differences in the distribution sarcopenic vs. non-sarcopenic were assessed by Chi²-test. RESULTS: sarcopenia prevalence according to EWGSOP1 (41 (27.7%)) was significantly higher than with EWGSOP2 (26(18.1%), p<0.05). The sex-specific sarcopenia prevalence was 22.1% (EWGSOP1) and 17.4% (EWGSOP2), respectively, for women (difference not significant) and 37.9% vs. 19.4% for men (p<0.05%). The overall agreement in classifying subjects as sarcopenic/non-sarcopenic was 81.25% (81.4% for women, 81.0% for men). However, among the 41 sarcopenia cases identified by EWGSOP1, only 20 (48.8%) were diagnosed with sarcopenia by EWGSOP2 (9/19 w (47.4%), 11/22 m (50.0%)). Ten of 19 women (52.6%) and 11 of 22 men (50.0%) diagnosed with sarcopenia by EWGSOP1 were missed by EWGSOP2, while 6 of 15 women (40.0%) and 0 of 11 men (0.0%) were newly diagnosed. DISCUSSION: there is a substantial mismatch in sarcopenia case finding according to EWGSOP1 and EWGSOP2. The overall prevalence and the number of men diagnosed with sarcopenia are significantly lower in EWGSOP2. While the absolute number of women identified as sarcopenic remains relatively constant, the overlap of individual cases between the two definitions is low.

Sarcopenia and osteoporosis are interrelated in geriatric inpatients.

BACKGROUND: Sarcopenia and osteoporosis share an underlying pathology and reinforce each other in terms of negative outcomes. OBJECTIVE: To evaluate the extent of concomitance of sarcopenia as defined by the European Working Group on Sarcopenia in Older People (EWGSOP) and osteoporosis as defined by the World Health Organization (WHO) in geriatric inpatients and their relationship to nutritional and functional status. MATERIAL AND METHODS: A cross-sectional analysis of geriatric inpatients from the sarcopenia in geriatric elderly (SAGE) study. Measurements included dual X­ray absorptiometry for bone mineral density and appendicular muscle mass; gait speed and hand grip strength, the Barthel index, body mass index (BMI) and the mini nutritional assessment short form (MNA-SF). RESULTS: Of the 148 patients recruited for SAGE, 141 (84 women, 57 men; mean age 80.6 ± 5.5 years) had sufficient data to be included in this ancillary investigation: 22/141 (15.6%) were only osteoporotic, 19/141 (13.5%) were only sarcopenic and 20/141 (14.2%) osteosarcopenic (i.e. both sarcopenia and osteoporosis). The prevalence of osteoporosis was higher in sarcopenic than in non-sarcopenic individuals (51.3% vs. 21.6%, p < 0.001). Sarcopenic, osteoporotic and osteosarcopenic subjects had a lower BMI, MNA-SF, handgrip and gait speed (p < 0.05) than the reference group (those neither osteoporotic nor sarcopenic, n = 80). The Barthel index was lower for sarcopenic and osteosarcopenic (p < 0.05) but not for osteoporotic (p = 0.07) subjects. The BMI and MNA-SF were lower in osteosarcopenia compared to sarcopenia or osteoporosis alone (p < 0.05) while there were no differences in functional criteria. CONCLUSION: Osteoporosis and sarcopenia are linked to nutritional deficits and reduced function in geriatric inpatients. Co-occurrence (osteosarcopenia) is common and associated with a higher degree of malnutrition than osteoporosis or sarcopenia alone.

A hydrodynamically optimized nano-electrospray ionization source and vacuum interface.

The coupling of atmospheric pressure ionization (API) sources like electrospray ionization (ESI) to vacuum based applications like mass spectrometry (MS) or ion beam deposition (IBD) is done by differential pumping, starting with a capillary or pinhole inlet. Because of its low ion transfer efficiency the inlet represents a major bottleneck for these applications. Here we present a nano-ESI vacuum interface optimized to exploit the hydrodynamic drag of the background gas for collimation and the reduction of space charge repulsion. Up to a space charge limit of 40 nA we observe 100% current transmission through a capillary with an inlet and show by MS and IBD experiments that the transmitted ion beams are well defined and free of additional contamination compared to a conventional interface. Based on computational fluid dynamics modelling and ion transport simulations, we show how the specific shape enhances the collimation of the ion cloud. Mass selected ion currents in the nanoampere range available further downstream in high vacuum open many perspectives for the efficient use of electrospray ion beam deposition (ES-IBD) as a surface coating method.

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.

All molybdoenzymes other than nitrogenase require molybdopterin as a metal-binding cofactor. Several genes necessary for the synthesis of the molybdenum cofactor (MoCo) have been characterized in bacteria and plants. The proteins encoded by the Escherichia coli genes moaA and moaC catalyse the first steps in MoCo synthesis. The human homologues of these genes are therefore candidate genes for molybdenum cofactor deficiency, a rare and fatal disease. Using oligonucleotides complementary to a conserved region in the moaA gene, we have isolated a human cDNA derived from liver mRNA. This transcript contains an open reading frame (ORF) encoding the human moaA homologue and a second ORF encoding a human moaC homologue. Mutations can be found in the majority of MoCo-deficient patients that confirm the functional role of both ORFs in the corresponding gene MOCS1 (for 'molybdenum cofactor synthesis-step 1'). Northern-blot analysis detected only full-length transcripts containing both consecutive ORFs in various human tissues. The mRNA structure suggests a translation reinitiation mechanism for the second ORF. These data indicate the existence of a eukaryotic mRNA, which as a single and uniform transcript guides the synthesis of two different enzymatic polypeptides with disease-causing potential.

Happy but not so approachable: the social judgments of individuals with generalized social phobia.

BACKGROUND: We examined social approachability judgments in a psychiatric population that frequently experiences interpersonal difficulties and reduced social satisfaction, individuals with generalized social phobia (gSP). METHODS: Our objective was to broaden the understanding of the social cognitive tendencies of individuals with gSP by systematically investigating their interpretation of positive facial expressions. We hypothesized that approachability ratings would be lower for positive as well as negative emotional faces in the gSP group compared to the healthy comparison group. Each participant evaluated 24 emotional faces presented on a computer screen. Participants first labeled the faces as either happy, disgust, or angry in emotional expression, and then they rated each face's approachability. Analysis of variance and post hoc analyses were used to identify group, emotion, and group by emotion rating differences. RESULTS: Happy face approachability ratings were higher than disgust and anger in both groups. The central finding was that individuals with gSP rated happy faces as less approachable than the healthy participants and that degree of social anxiety was associated with lower approachability ratings within the gSP sample. Explicit approachability judgments of negative faces did not differ as predicted. CONCLUSIONS: Consistent with earlier indirect evidence of interpretation biases of positive social emotional information, this study reveals that individuals with gSP demonstrate explicit, subjective social interpretation biases of overtly positive social feedback. The therapeutic relevance of these results is discussed.

Quantifying appendicular muscle mass in geriatric inpatients: Performance of different single frequency BIA equations in comparison to dual X-ray absorptiometry.

BACKGROUND: Quantification of skeletal muscle mass is mandatory for diagnosing sarcopenia, a highly prevalent geriatric syndrome. While dual energy X-ray absorptiometry (DXA) is the reference method in a clinical context, bioimpedance analysis (BIA) is more readily applicable on a broad scale. Recently BIA equations for the prediction of appendicular skeletal muscle mass in higher age groups have been published, but data on their performance in geriatric inpatients are lacking. METHODS: In 144 geriatric inpatients (86 women and 58 men, mean age 80.7 ± 5.6 years) appendicular skeletal muscle mass was predicted by 4 different BIA equations and measured by DXA. Results were compared by linear regression analysis and Bland Altmann plots. The agreement with DXA in classifying subjects to have normal or reduced muscle mass was calculated for the BIA based approaches. RESULTS: The 4 BIA equations showed only minor differences in regression analysis, but major differences in mean error (range -0.98 kg to + 0.19 kg in women and -2.47 kg to -0.58 kg in men). Considering regression parameters and mean error, the equation of Scafoglieri et al. performed best, resulting in an agreement with DXA of more than 83%. Sensitivity to detect subjects with reduced muscle mass was <70% in the whole group for all BIA equations. CONCLUSION: The BIA equation of Scafoglieri et al. performs best in geriatric inpatients, with more than 83% of subjects classified correctly as having normal or reduced muscle mass compared to DXA. Low sensitivity to detect subjects with reduced muscle mass in geriatric inpatients remains a limitation of BIA.

Adolescent Transition to Adult Care in Solid Organ Transplantation: a consensus conference report.

Transition of care from pediatric to adult-oriented health care providers is difficult for children with special health care needs. Children who have received solid organ transplants and their providers experience the same difficulties and frustrations as children with other major illnesses. A consensus conference was organized by several transplant organizations to identify major issues in this area and recommend possible approaches to easing the process of transition for solid organ transplant recipients. This report summarizes the discussions and recommendations.

Improving physical and mental health in frontline mental health care providers: Yoga-based stress management versus cognitive behavioral stress management.

The need for brief, low-cost, easily disseminable and effective interventions to promote healthy lifestyles is high. This is especially true for mental health providers. We developed two studies to compare the impacts of Cognitive Behavioral Stress Management (CBSM) and Yoga Based Stress Management (YBSM) interventions for healthcare professionals. Study 1 offered an 8-week YBSM intervention to 37 mental healthcare participants and collected health data pre and post. Study 2 offered YBSM and CBSM classes to 40 randomly assigned mental healthcare providers and collected mental and physical health data at four time points. In Study 1, using t-tests, the YBSM intervention affected a number of mental and physical wellbeing indices pre to post. In Study 2, using linear mixed modeling, both YBSM and CBSM groups improved significantly (p <.05) in fruit and vegetable intake, heart rate, alcohol consumption, relaxation and awareness, professional quality of life, compassion satisfaction, burnout, depression, and stress levels. There was a group by time effect for coping confidence (CBSM increased more, p<.05, F = 4.34), physical activity (YBSM increased more, p<.05, F = 3.47), overall mental health (YBSM increased more, p<.10, F =5.32), and secondary traumatic stress (YBSM decreased more, p<.10, F = 4.89). YBSM and CBSM appear to be useful for healthcare professionals' mental and physical health. YBSM demonstrates some benefit above and beyond the extremely well-studied and empirically supported CBSM, including increased physical activity, overall mental health, and decreased secondary traumatic stress benefits.

Homelessness and housing crises among individuals accessing services within a Canadian emergency department.

ACCESSIBLE SUMMARY: Studies have indicated that individuals who are homeless access hospital emergency departments more frequently and may have different needs than individuals who are housed. Successful interventions have been developed and tested to reduce discharge to homelessness for psychiatric inpatients but have not been similarly tested for discharge from emergency departments. This study was developed to provide baseline data on this issue to inform future emergency department interventions. Findings from the current study suggest that discharge from emergency departments to homelessness happens frequently in London, Canada. Participants are unlikely to spontaneously disclose their housing/homelessness issue when first entering the emergency department, which may result in services that do not adequately meet their complex needs. Screening for housing issues is necessary within emergency departments and psychiatric crisis teams as housing issues may be a reason for accessing care or contribute to the presenting condition. Nurses are in an ideal position to evaluate housing needs among emergency department patients. Services outside of the emergency department are also needed to address housing issues, particularly outside of regular office hours. ABSTRACT: Individuals who have mental health issues and are homeless or in housing crisis have been found to access emergency departments more frequently than individuals with stable housing. While emergency departments primarily focus on medical issues, homeless individuals may require psychosocial support as well. This study examined issues around housing crises and emergency department use for individuals with mental illness in Canada. Collecting baseline data about these issues is important to inform subsequent interventions. Administrative data from a hospital emergency department and psychiatric crisis service were collected, and five individuals accessing the emergency department for psychiatric reasons were interviewed. Results indicated that individuals with an identified housing crisis accessed the emergency department 930 times in 6 months. None of the interview participants identified housing as the primary reason for accessing the emergency department, but all noted that housing was a contributing stressor. Future research is needed to examine ways in which discharge to homelessness from emergency departments can be avoided and identify alternative services to address housing concerns, particularly for individuals with mental illness. Crisis service and emergency department staff, especially nurses, can play an important role in screening for housing issues and connecting individuals to outside services.

The 5'-CA DNA-sequence preference of daunomycin.

The DNA-sequence specificity of daunomycin was investigated by DNase I footprinting and an E. coli RNA polymerase transcription-inhibition assay. The 5'-CA sequence was identified as being the highest affinity binding site, although other modest affinity (5'-GC, CG, CT, TC, AC) and poor affinity sites (5'-AA, AT, TA) were also observed. The preference of daunomycin for 5'-CA nucleotide sequence suggests that its biological activity may arise from association with the 5'-CA-containing sequences thought to be associated with genetic regulatory elements in eukaryotes.

Ultrastructure of the olfactory organ in the clawed frog, Xenopus laevis, during larval development and metamorphosis.

Development of the olfactory epithelia of the African clawed frog, Xenopus laevis, was studied by scanning and transmission electron microscopy. Stages examined ranged from hatching through the end of metamorphosis. The larval olfactory organ consists of two chambers, the principal cavity and the vomeronasal organ (VNO). A third sensory chamber, the middle cavity, arises during metamorphosis. In larvae, the principal cavity is exposed to water-borne odorants, but after metamorphosis it is exposed to airborne odorants. The middle cavity and the VNO are always exposed to waterborne odorants. Electron microscopy reveals that in larvae, principal cavity receptor cells are of two types, ciliated and microvillar. Principal cavity supporting cells are also of two types, ciliated and secretory (with small, electron-lucent granules). After metamorphosis, the principal cavity contains only ciliated receptor cells and secretory supporting cells, and the cilia on the receptor cells are longer than in larvae. Supporting cell secretory granules are now large and electron-dense. In contrast, the middle cavity epithelium contains the same cell types seen in the larval principal cavity. The VNO has microvillar receptor cells and ciliated supporting cells throughout life. The cellular process by which the principal cavity epithelium changes during metamorphosis is not entirely clear. Morphological evidence from this study suggests that both microvillar and ciliated receptor cells die, to be replaced by newly generated cells. In addition, ciliated supporting cells also appear to die, whereas there is evidence that secretory supporting cells transdifferentiate into the adult type. In summary, significant developmental additions and neural plasticity are involved in remodeling the olfactory epithelium in Xenopus at metamorphosis.

Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease.

OBJECTIVE: To determine whether the cystatin C gene (CST3) is genetically associated with late-onset Alzheimer disease (AD). DESIGN: A case-control study with 2 independent study populations of patients with AD and age-matched, cognitively normal control subjects. SETTING: The Alzheimer's Disease Research Unit at the University Hospital Hamburg-Eppendorf, Hamburg, Germany, for the initial study (n = 260). For the independent multicenter study (n = 647), an international consortium that included the Massachusetts Alzheimer's Disease Research Center at the Massachusetts General Hospital, Boston; the Scientific Institute for Research and Patient Care, Brescia, Italy; and Alzheimer's research units at the Universities of Basel and Zurich, Switzerland, and Bonn, Goettingen, and Hamburg, Germany. PARTICIPANTS: Five hundred seventeen patients with AD and 390 control subjects. MEASURES: Molecular testing of the KspI polymorphisms in the 5' flanking region and exon 1 of CST3 and the apolipoprotein E (APOE) genotype. Mini-Mental State Examination scores for both patients with AD and control subjects. RESULTS: Homozygosity for haplotype B of CST3 was significantly associated with late-onset AD in both study populations, with an odds ratio of 3.8 (95% confidence interval, 1.56-9.25) in the combined data set; heterozygosity was not associated with an increased risk. The odds ratios for CST3 B/B increased from 2.6 in those younger than 75 years to 8.8 for those aged 75 years and older. The association of CST3 B/B with AD was independent of APOE epsilon4; both genotypes independently reduced disease-free survival. CONCLUSIONS: CST3 is a susceptibility gene for late-onset AD, especially in patients aged 75 years and older. To our knowledge, CST3 B is the first autosomal recessive risk allele in late-onset AD.

Enzyme-linked immunosorbent assay (ELISA) for the detection and differentiation of Clostridium botulinum toxins type A and B.

Affinity chromatography has been used for a two-step purification of commercial horse botulinum antitoxic globulins type A and B. The first step performed using CH-Sepharose 4B conjugated to toxin type A (or B), permitted the removal of non-botulinal antibodies from antitoxic globulin type A (or B). The anti-botulinal antibodies obtained from the first step were cross-absorbed in the second affinity chromatography using CH-Sepharose 4B conjugated to toxin B (for the purification of antibodies to type A) or to toxin A (for antibodies to type B). The antibodies obtained were used to coat polystyrene wells in an ELISA for the detection of botulinum toxin type A and type B. The first purification step increases the sensitivity of such an ELISA whereas the second step improved the specificity of the test. Only slight cross-reactions were observed between the type A and type B detection systems. The sensitivity achieved with ELISA was 100 and 300 DLM (dosis lethalis minima) for type A and B respectively.

Biodistribution of haematoporphyrin analogues in a lung carcinoma model.

In an attempt to identify novel compounds useful for the optimization of Photodynamic Therapy (PDT), the tissue localization of new synthetic porphyrins was compared with Photofrin II in nude mice xenografted with a human small cell lung cancer (POVD). Three haematoporphyrin analogues were selected for this study based on prior in vitro photosensitivity screening of a series of 15 such derivatives, as well as on the basis of improved localization in C6 gliomas in mice. Two of the porphyrins yielded better tumour:normal lung ratios than Photofrin II and, of these two, one (P13) is known to exhibit good photosensitization properties both in vitro and in vivo, and is therefore a good candidate as a lead compound for the development of porphyrins suitable for the photodynamic treatment of lung tumours.

Distal arthrogryposis type II: a family with varying congenital abnormalities.

Five family members with distal arthrogryposis in two generations are reported. Cleft lip and palate, micrognathia, ptosis, webbed neck, kyphoscoliosis, and short stature are seen in one or more affected family members. All individuals with distal arthrogryposis also have trismus. This family does not fit any of the recently proposed five subcategories of type II distal arthrogryposis, nor does it fit any other recognized autosomal dominant condition with distal contractures.

A genetic follow-up study of 64 patients with the Pierre Robin complex.

A genetic follow-up study has been performed of 64 infants who were diagnosed as having Pierre Robin complex over a 23-year period in South Australia. Patients and their families were contacted, family history was obtained, and physical examinations were performed with an aim to detect heterogeneity and establish recurrence risks. In 16 deceased patients, detailed autopsy reports allowed the conclusion that 12 (70%) had an underlying syndrome. Twelve of the 47 living patients (26%) were diagnosed as having an underlying syndrome, the most common of which was Stickler syndrome (6 cases). In most cases separation of syndromic cases from the nonsyndromic cases was possible in the neonatal period. In the 34 patients without an underlying syndrome, study of pregnancy and birth details did not reveal any distinctive etiologic factors. There was no recurrence in sibs of this group of patients with nonsyndromic Pierre Robin complex.

De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.

Duplication of band p11.2 and a small proximal portion of band p12 of chromosome 17 was noted in an infant with unusual facial appearance and left calcaneovalgus deformity. Developmental delay was documented over time. Only one other similar case has been found in the literature, but deletion of the same region is known in nine recently described cases [Smith et al, 1986]. This suggests that abnormalities of this small region of 17p are relatively common and only recently detectable with modern high-resolution techniques.