نتایج جستجو برای: hyper immunoglobulin e syndrome

تعداد نتایج: 1675937  

Journal: :Journal of Medical Case Reports 2007
Ali Al Kaissi Franz Varga Shahin Zandieh Klaus Klaushofer Franz Grill

Endosteal hyperostosis was encountered in a 26-year-old-man and his 6-month-old daughter. Both the father and his daughter presented with fractures. Odontoid process hyperplasia, and progressive sclerosis of the posterior spinal elements, was the other significant features. To the best of our knowledge, this is the first clinical report describing distinctive spinal changes in association with ...

2012
JULIET D. TANG SMADAR GILBOA RICHARD T. ROUSH ANTHONY M. SHELTON

J. Econ. Entomol. 90(3): 732-741 (1997) ABSTRACT A colony of Plutella xylostella (L.), established from crucifer fields in Florida, was used to investigate resistance to Bacillus thuringiensis Berliner subsp. kurstaki. From an initial level of >I,500-fold. resistance fell within 3 generations in the absence of selection to =300-fold compared with susceptible larvae. Unlike previous cases of res...

2014
Jiangchao Zhao Susan Murray John J. LiPuma

Human-associated microbial communities play important roles in health and disease. Antibiotic administration is arguably one of the most important modifiable determinants of the composition of the human microbiota. However, quantitatively modeling antibiotic use to account for its impact on microbial community dynamics presents a challenge. We used antibiotic therapy of chronic lung infection i...

Journal: :Journal of medical genetics 1984
A Shuper P Merlob B Garty I Varsano

The third family with multiple naevi flammei and the first description of its occurrence in unidentical twins is presented. Autosomal dominant inheritance is confirmed.

Journal: :The British journal of ophthalmology 1980
R R Ober A C Bird A M Hamilton K Sehmi

Twelve affected members from 3 families with autosomal dominant exudative vitreouretinopathy were examined, and the following conclusions were drawn: (1) There is great variability in the phenotypic expression of the abnormal gene, such that many patients have very mild disease which can be detected with certainty only by fluorescein angiography. (2) Gene penetrance is close to 100%. (3) Progre...

2000
Elina Virolainen Aarno Palotie Angela M. Christiano Leena Pulkkinen Thomas Jefferson Leena Ala-Kokko Søren Kierkegaard

3 It seems as though I had not drunk from the cup of wisdom, but had fallen into it Søren Kierkegaard To Panu

Journal: :Genetics 2015
Fabrizio Mafessoni Michael Lachmann

In finite populations, an allele disappears or reaches fixation due to two main forces, selection and drift. Selection is generally thought to accelerate the process: a selected mutation will reach fixation faster than a neutral one, and a disadvantageous one will quickly disappear from the population. We show that even in simple diploid populations, this is often not true. Dominance and recess...

Journal: :Caspian journal of internal medicine 2013
Javad Ghaffari Saeed Abedian-Kenari Maryam Ghasemi Farzad Gohardehi

BACKGROUND Hyper IgE syndrome (HIES) is a rare primary immune deficiency, described as Job(`)s syndrome characterized by increased serum levels of IgE, eczema, recurrent cutaneous and pulmonary infections. In this paper, we presented a case of Hyper IgE syndrome. CASE PRESENTATION A 16-year-old Iranian boy presented with a one year history of skin lesions in knees and elbows was diagnosed of ...

2003
c.

PROBLEMS of genetic regulation have received increasing attention in recent years and controlling mechanisms are being elucidated with great rapidity. One such problem, that of dosage compensation, was originally defined in Drosophila, and, for nearly thirty years, its mechanism of action has remained open to question. The term “dosage compensation” indicates that, for sex-linked genes which di...

2017

Intravenous immunoglobulin (IVIg) therapy may be considered medically necessary for the following indications.  Immunodeficiency States—patients with Primary Immunodeficiencies, including o Congenital agammaglobulinemia o Hypogammaglobulinemia o Common variable immunodeficiency o Severe combined immunodeficiency (SCID) o Wiskott-Aldrich syndrome o X-linked agammaglobulinemia (Bruton agammaglob...

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