A Deletion in Exon 9 of the LIPH Gene Is Responsible for the Rex Hair Coat Phenotype in Rabbits (Oryctolagus cuniculus)

The fur of common rabbits is constituted of 3 types of hair differing in length and diameter while that of rex animals is essentially made up of amazingly soft down-hair. Rex short hair coat phenotypes in rabbits were shown to be controlled by three distinct loci. We focused on the “r1” mutation which segregates at a simple autosomal-recessive locus in our rabbit strains. A positional candidate gene approach was used to identify the rex gene and the corresponding mutation. The gene was primo-localized within a 40 cM region on rabbit chromosome 14 by genome scanning families of 187 rabbits in an experimental mating scheme. Then, fine mapping refined the region to 0.5 cM (Z = 78) by genotyping an additional 359 offspring for 94 microsatellites present or newly generated within the first defined interval. Comparative mapping pointed out a candidate gene in this 700 kb region, namely LIPH (Lipase Member H). In humans, several mutations in this major gene cause alopecia, hair loss phenotypes. The rabbit gene structure was established and a deletion of a single nucleotide was found in LIPH exon 9 of rex rabbits (1362delA). This mutation results in a frameshift and introduces a premature stop codon potentially shortening the protein by 19 amino acids. The association between this deletion and the rex phenotype was complete, as determined by its presence in our rabbit families and among a panel of 60 rex and its absence in all 60 non-rex rabbits. This strongly suggests that this deletion, in a homozygous state, is responsible for the rex phenotype in rabbits

The Fuchsian differential equation of the square lattice Ising model χ(3)\chi(3) susceptibility

Using an expansion method in the variables $x_i$ that appear in the $(n-1)$-dimensional integrals representing the $n$-particle contribution to the Ising square lattice model susceptibility $\chi$, we generate a long series of coefficients for the 3-particle contribution $\chi^{(3)}$, using a $N^4$ polynomial time algorithm. We give the Fuchsian differential equation of order seven for $\chi^{(3)}$ that reproduces all the terms of our long series. An analysis of the properties of this Fuchsian differential equation is performed.Comment: 15 pages, no figures, submitted to J. Phys.

A Deletion in Exon 9 of the LIPH Gene Is Responsible for the Rex Hair Coat Phenotype in Rabbits (Oryctolagus cuniculus)

The fur of common rabbits is constituted of 3 types of hair differing in length and diameter while that of rex animals is essentially made up of amazingly soft down-hair. Rex short hair coat phenotypes in rabbits were shown to be controlled by three distinct loci. We focused on the “r1” mutation which segregates at a simple autosomal-recessive locus in our rabbit strains. A positional candidate gene approach was used to identify the rex gene and the corresponding mutation. The gene was primo-localized within a 40 cM region on rabbit chromosome 14 by genome scanning families of 187 rabbits in an experimental mating scheme. Then, fine mapping refined the region to 0.5 cM (Z = 78) by genotyping an additional 359 offspring for 94 microsatellites present or newly generated within the first defined interval. Comparative mapping pointed out a candidate gene in this 700 kb region, namely LIPH (Lipase Member H). In humans, several mutations in this major gene cause alopecia, hair loss phenotypes. The rabbit gene structure was established and a deletion of a single nucleotide was found in LIPH exon 9 of rex rabbits (1362delA). This mutation results in a frameshift and introduces a premature stop codon potentially shortening the protein by 19 amino acids. The association between this deletion and the rex phenotype was complete, as determined by its presence in our rabbit families and among a panel of 60 rex and its absence in all 60 non-rex rabbits. This strongly suggests that this deletion, in a homozygous state, is responsible for the rex phenotype in rabbits

Successful desensitization with human insulin in a patient with an insulin allergy and hypersensitivity to protamine: a case report

<p>Abstract</p> <p>Introduction</p> <p>Insulin allergy may occur in patients treated with subcutaneous applications of insulin preparations. Besides additives in the insulin preparation such as protamine, cresol, and phenol, the insulin molecule itself may be the cause of the allergy. In the latter case, therapeutic options are rare.</p> <p>Case presentation</p> <p>A 68-year-old man with poorly controlled type 2 diabetes mellitus received different insulin preparations subcutaneously while on oral medication. Six to eight hours after each subcutaneous application, he developed pruritic plaques with a diameter of >15 cm at the injection sites that persisted for several days. Allergologic testing revealed positive reactions against every insulin preparation and against protamine. Investigation of serum samples demonstrated IgG antibodies against human and porcine insulin. We treated the patient with human insulin using an ultra-rush protocol beginning with 0.004 IU and a rapid augmentation in dose up to 5 IU. Therapy was accompanied by antihistamine therapy. Subsequent conversion to therapy with glargine insulin (6 IE twice daily) was well-tolerated.</p> <p>Conclusion</p> <p>As reported in this case, desensitization with subcutaneously administered human insulin using an ultra-rush protocol in patients with an insulin allergy may present an easy form of therapy that is successful within a few days.</p

Intensive care of the cancer patient: recent achievements and remaining challenges

A few decades have passed since intensive care unit (ICU) beds have been available for critically ill patients with cancer. Although the initial reports showed dismal prognosis, recent data suggest that an increased number of patients with solid and hematological malignancies benefit from intensive care support, with dramatically decreased mortality rates. Advances in the management of the underlying malignancies and support of organ dysfunctions have led to survival gains in patients with life-threatening complications from the malignancy itself, as well as infectious and toxic adverse effects related to the oncological treatments. In this review, we will appraise the prognostic factors and discuss the overall perspective related to the management of critically ill patients with cancer. The prognostic significance of certain factors has changed over time. For example, neutropenia or autologous bone marrow transplantation (BMT) have less adverse prognostic implications than two decades ago. Similarly, because hematologists and oncologists select patients for ICU admission based on the characteristics of the malignancy, the underlying malignancy rarely influences short-term survival after ICU admission. Since the recent data do not clearly support the benefit of ICU support to unselected critically ill allogeneic BMT recipients, more outcome research is needed in this subgroup. Because of the overall increased survival that has been reported in critically ill patients with cancer, we outline an easy-to-use and evidence-based ICU admission triage criteria that may help avoid depriving life support to patients with cancer who can benefit. Lastly, we propose a research agenda to address unanswered questions

Gender differences in beliefs about health:A comparative qualitative study with Ghanaian and Indian migrants living in the United Kingdom

Background There is a well-established association between migration to high income countries and health status, with some groups reporting poorer health outcomes than the host population. However, processes that influence health behaviours and health outcomes across minority ethnic groups are complex and in addition, culture ascribes specific gender roles for men and women, which can further influence perspectives of health. The aim of this study was to undertake a comparative exploration of beliefs of health among male and female Ghanaian and Indian migrants and White British participants residing in an urban area within the UK. Methods Thirty-six participants (12 each Ghanaian, Indian and White British) were recruited through community settings and participated in a semi-structured interview focusing on participant’s daily life in the UK, perceptions of their own health and how they maintained their health. Interviews were analyzed using a Framework approach. Results Three super ordinate themes were identified and labelled (a) beliefs about health; (b) symptom interpretation and (c) self-management and help seeking. Gender differences in beliefs and health behaviour practices were apparent across participants. Conclusions This is the first study to undertake a comparative exploration of health beliefs among people who have migrated to the UK from Ghana and India and to compare with a local (White British) population. The results highlight a need to consider both cultural and gender-based diversity in guiding health behaviours, and such information will be useful in the development of interventions to support health outcomes among migrant populations

Modelling of Usual Nutrient Intakes: Potential Impact of the Choices Programme on Nutrient Intakes in Young Dutch Adults

Introduction The Choices Programme is an internationally applicable nutrient profiling system with nutrition criteria for trans fatty acids (TFA), saturated fatty acids, sodium, added sugar and for some product groups energy and fibre. These criteria determine whether foods are eligible to carry a “healthier option” stamp. In this paper a nutrient intake modelling method is described to evaluate these nutritional criteria by investigating the potential effect on nutrient intakes. Methods Data were combined from the 2003 Dutch food consumption survey in young adults (aged 19–30) and the Dutch food composition table into the Monte Carlo Risk Assessment model. Three scenarios were calculated: the “actual intakes” (scenario 1) were compared to scenario 2, where all foods that did not comply were replaced by similar foods that did comply with the Choices criteria. Scenario 3 was the same as scenario 2 adjusted for the difference in energy density between the original and replacement food. Additional scenarios were calculated where snacks were not or partially replaced and stratified analyses for gender, age, Body Mass Index (BMI) and education. Results Calculated intake distributions showed that median energy intake was reduced by 16% by replacing normally consumed foods with Choices compliant foods. Intakes of nutrients with a maximal intake limit were also reduced (ranging from -23% for sodium and -62% for TFA). Effects on intakes of beneficial nutrients varied from an unintentional reduction in fat soluble vitamin intakes (-15 to -28%) to an increase of 28% for fibre and 17% calcium. Stratified analyses in this homogeneous study population showed only small differences across gender, age, BMI and education. Conclusions This intake modelling method showed that with consumption of Choices compliant foods, nutrient intakes shift towards population intake goals for the nutrients for which nutrition criteria were defined, while effects on beneficial nutrients were diverse