Papers by Professor Kian Rey
[33/m-Increasing edema of the lower leg over several weeks : Preparation for the medical specialist examination: part 98]
Der Internist, 2021
A Reversible 8 Track Cartridge
Journal of The Audio Engineering Society, 1979
California’s Statewide Survey Of Tidal Wetland Condition
A New Multi-Deck Broadcast Audio Tape Cartridge System
Report presenting an investigation to evaluate the unnotched fatigue properties of two titanium a... more Report presenting an investigation to evaluate the unnotched fatigue properties of two titanium alloys at elevated temperatures. A variety of temperatures were tested and the results are provided in tabular form and as curves of stress versus cycles to failure for each test temperature. Both alloys were found to have potential use at the temperature ranges investigated.
A study of cumulative fatigue damage at elevated temperatures was conducted using heat-treated SA... more A study of cumulative fatigue damage at elevated temperatures was conducted using heat-treated SAE 4130 alloy steel. The S-N curves at room temperature, 44X0 F, and 800' F were obtained from rotating-beam fatigue tests. Two-step, three-step, and five-step cumulative-damage fatigue tests were conducted on rotating-beam fatigue specimens at room temperature, 400' F, and 800' F. The results of the cumulativedamage tests are compared with those of a theoretical analysis.
Intercomprehension and Lingua Receptiva at the European Institutions - What is the Potential for the Work of Translators at the European Court of Justice?
27/w mit akutem Nierenversagen, metabolischer Acidose und Ödemen
Der Internist
33/m mit zunehmenden Unterschenkelödemen seit einigen Wochen
Der Internist
56/m – seltener Fall einer metabolischen Acidose
Der Internist
QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum
Clinical Genetics
Ververi‐Brady syndrome (VBS, # 617982) is a rare developmental disorder, and loss‐of‐function var... more Ververi‐Brady syndrome (VBS, # 617982) is a rare developmental disorder, and loss‐of‐function variants in QRICH1 were implicated in its etiology. Furthermore, a recognizable phenotype was proposed comprising delayed speech, learning difficulties and dysmorphic signs. Here, we present four unrelated individuals with one known nonsense variant (c.1954C > T; p.[Arg652*]) and three novel de novo QRICH1 variants, respectively. These included two frameshift mutations (c.832_833del; p.(Ser278Leufs*25), c.1812_1813delTG; p.(Glu605Glyfs*25)) and interestingly one missense mutation (c.2207G > A; p.[Ser736Asn]), expanding the mutational spectrum. Enlargement of the cohort by these four individuals contributes to the delineation of the VBS phenotype and suggests expressive speech delay, moderate motor delay, learning difficulties/mild ID, mild microcephaly, short stature and notable social behavior deficits as clinical hallmarks. In addition, one patient presented with nephroblastoma. The possible involvement of QRICH1 in pediatric cancer assumes careful surveillance a key priority for outcome of these patients. Further research and enlargement of cohorts are warranted to learn about the genetic architecture and the phenotypic spectrum in more detail.
Author response for " QRICH1 variants in Ververi‐Brady syndrome – delineation of the genotypic and phenotypic spectrum
OUP accepted manuscript
Brain
Using trio exome sequencing, we identified de novo heterozygous missense variants in PAK1 in four... more Using trio exome sequencing, we identified de novo heterozygous missense variants in PAK1 in four unrelated individuals with intellectual disability, macrocephaly and seizures. PAK1 encodes the p21-activated kinase, a major driver of neuronal development in humans and other organisms. In normal neurons, PAK1 dimers reside in a trans-inhibited conformation, where each autoinhibitory domain covers the kinase domain of the other monomer. Upon GTPase binding via CDC42 or RAC1, the PAK1 dimers dissociate and become activated. All identified variants are located within or close to the autoinhibitory switch domain that is necessary for trans-inhibition of resting PAK1 dimers. Protein modelling supports a model of reduced ability of regular autoinhibition, suggesting a gain of function mechanism for the identified missense variants. Alleviated dissociation into monomers, autophosphorylation and activation of PAK1 influences the actin dynamics of neurite outgrowth. Based on our clinical and ...
Nature Communications
Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling c... more Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development of these two disease entities alone or in combination remain unclear. We generated mice with a heterozygous nervous system-specific partial loss-offunction mutation in a BAF core component gene, Smarcb1. These Smarcb1 mutant mice show various brain midline abnormalities that are also found in individuals with Coffin-Siris syndrome (CSS) caused by SMARCB1, SMARCE1, and ARID1B mutations and in SMARCB1-related intellectual disability (ID) with choroid plexus hyperplasia (CPH). Analyses of the Smarcb1 mutant animals indicate that one prominent midline abnormality, corpus callosum agenesis, is due to midline glia aberrations. Our results establish a novel role of Smarcb1 in the development of the brain midline and have important clinical implications for BAF complexrelated ID/neurodevelopmental disorders.
Multi-proxy reassessment of the paleolimnology of Lake Bonneville (western USA) as observed in the restricted Pilot Valley sub-basin
Journal of Quaternary Science
Environmental Entomology
Although corn (Zea mays L.) and soybeans (Glycine max L.) do not require pollination, they offer ... more Although corn (Zea mays L.) and soybeans (Glycine max L.) do not require pollination, they offer floral resources used by insect pollinators. We asked if a similar community of insect pollinators visits these crops in central Iowa, a landscape dominated by corn and soybean production. We used modified pan traps (i.e., bee bowls) in both corn and soybean fields during anthesis and used nonmetric multidimensional scaling (NMS) to compare the communities found in the two crops. Summed across both crops, 6,704 individual insects were captured representing at least 60 species, morphospecies, or higher-level taxa. Thirty-four species were collected in both crops, 19 collected only in corn and seven were collected only in soybean. The most abundant taxa were Lasioglossum [Dialictus] spp., Agapostemon virescens Cresson, Melissodes bimaculata (Lepeletier), and Toxomerus marginatus (Say), which accounted for 65% of the insect pollinators collected from both crops. Although social bees (Apis mellifera L. and Bombus spp.) were found in both crops, they accounted for only 0.5% of all insects captured. The NMS analysis revealed a shared community of pollinators composed of mostly solitary, ground nesting bees. Many of these species have been found in other crop fields throughout North America. Although corn and soybean are grown in landscapes that are often highly disturbed, these data suggest that a community of pollinators can persist within them. We suggest approaches to conserving this community based on partnering with activities that aim to lessen the environmental impact of annual crop production.
Molecular Syndromology, 2016
Lipoid proteinosis (LP) is an autosomal recessive genodermatosis known to be caused by mutations ... more Lipoid proteinosis (LP) is an autosomal recessive genodermatosis known to be caused by mutations in ECM1. Nonsense and missense mutations are the most common variations in LP. Up to date, only 6 splice site mutations have been observed. We report on a 26-year-old female LP patient from a Turkish consanguineous family carrying a novel homozygous splice site mutation in intron 8 of the ECM1 gene and summarize the current knowledge on ECM1 mutations and possible genotype-phenotype correlations.
A Study of the Stability of Reinforced Cylindrical
I
[Nucleic acid content of normal and hypertrophic rabbit heart]
Experientia, Jan 15, 1959
Pediatric Hematology- …, 2006
This is a critical abstract of an economic evaluation that meets the criteria for inclusion on NH... more This is a critical abstract of an economic evaluation that meets the criteria for inclusion on NHS EED. Each abstract contains a brief summary of the methods, the results and conclusions followed by a detailed critical assessment on the reliability of the study and the conclusions drawn. Health technology The study examined two antibiotic treatments for febrile neutropenia in paediatric patients with cancer. One treatment was piperacillin-tazobactam (PIP-TAZO), 80 mg/kg PIP and 10 mg/kg TAZO every 6 hours (maximum 4.5 g/dose). The other treatment was cefepime, 50 mg/kg every 8 hours (maximum 2 g/dose). Treatment could be stopped only after fever had subsided and a neutrophil count of at least 500 cells/mm3 had been reached, or after eradication of microbiological or clinical infection. If patients still had fever after 4 full days of empirical therapy, the addition of teicoplanin (10 mg/kg per dose, 12 hourly first 3 doses, continued with the same dose 24 hourly) was allowed in the absence of positive cultures, while the choice of the antibiotic was based on in vitro sensitivity for documented infections. Type of intervention Treatment. Economic study type Cost-effectiveness analysis. Study population The study population comprised febrile neutropenic children and adolescents (aged 18 years or younger) who had been treated for primary, refractory, or relapsed solid tumours and haematological malignancies. Fever was defined as a single axillary temperature 38.5 degrees C or 38.0 degrees C for more than 1 hour. Neutropenia was defined as an absolute neutrophil count of less than 500 cells/mm3, or a count of less than 1,000 cells/mm3 with a predicted decrease to less than 500 cells/mm3 within 24 to 48 hours. The exclusion criteria included fever attributed to malignancy or transfused blood products or other medication, and the administration of any systemic antibiotic within 3 days prior to study drug administration. Further exclusion criteria were a history of hypersensitivity reaction to cephalosporin or penicillins, and hepatic or renal insufficiency. Setting The setting was a hospital. The economic study was carried out in Turkey.
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Papers by Professor Kian Rey