Y chromosome azoospermia factor region microdeletions and
... Abstract: Spermatogenesis is an essential reproductive process that is regulated by many Y chromosome specific genes. Most of these genes are located in a specific region known as the azoospermia factor region (AZF) in the long arm of the human Y chromosome. AZF microdeletions are recognized as the ...
... Abstract: Spermatogenesis is an essential reproductive process that is regulated by many Y chromosome specific genes. Most of these genes are located in a specific region known as the azoospermia factor region (AZF) in the long arm of the human Y chromosome. AZF microdeletions are recognized as the ...
Diagnosis of primary ciliary dyskinesia: searching for a gold standard
... bronchiectasis and sinusitis in 1933. It was not until 1976 that ciliary defects were identified as the causative link, when immotile cilia with absent dynein arms were described in the cilia of three men with sinopulmonary disease and immotile sperm [8]. Using light microscopy to evaluate ciliary b ...
... bronchiectasis and sinusitis in 1933. It was not until 1976 that ciliary defects were identified as the causative link, when immotile cilia with absent dynein arms were described in the cilia of three men with sinopulmonary disease and immotile sperm [8]. Using light microscopy to evaluate ciliary b ...
Pyrosequencing reveals transient cystic fibrosis lung microbiome changes with intravenous antibiotics
... Sputum microbiota before antibiotic treatment: TP-1 18 sputum specimens were analysed at TP-1 and showed a complex microbiota, with a median (range) of 113 (23–210) OTUs per sample. A total of 100 different genera were observed (median (range) 13 (2–39) per sample) (fig. 1). Pseudomonas was the domi ...
... Sputum microbiota before antibiotic treatment: TP-1 18 sputum specimens were analysed at TP-1 and showed a complex microbiota, with a median (range) of 113 (23–210) OTUs per sample. A total of 100 different genera were observed (median (range) 13 (2–39) per sample) (fig. 1). Pseudomonas was the domi ...
Loss-of-function of a Rice Gibberellin Biosynthetic Gene, GA20
... of these genes corresponded to the sd1 gene. Our research team and Hirochika’s group in the Rice Genome Research Program in Tsukuba have also isolated knockout mutants for these GA-biosynthetic enzymes, all of which showed a much stronger dwarf phenotype than sd1 (unpublished data), supporting the a ...
... of these genes corresponded to the sd1 gene. Our research team and Hirochika’s group in the Rice Genome Research Program in Tsukuba have also isolated knockout mutants for these GA-biosynthetic enzymes, all of which showed a much stronger dwarf phenotype than sd1 (unpublished data), supporting the a ...
ALL IC-BFM 2009
... The new study protocol ALL-IC BFM 2009 is the final result of very comprehensive data analyses and discussions over the last few years. Clinical research performed within the ALLIC BFM group but also in parallel in the context of trial AIEOP-BFM ALL 2000 produced important evidence for the new strat ...
... The new study protocol ALL-IC BFM 2009 is the final result of very comprehensive data analyses and discussions over the last few years. Clinical research performed within the ALLIC BFM group but also in parallel in the context of trial AIEOP-BFM ALL 2000 produced important evidence for the new strat ...
Guidelines on the management of invasive fungal infection
... leukaemia (ALL) 2%, 0.7% and 36%. In 1188 patients receiving autologous SCT (470 lymphoma, 395 multiple myeloma, 132 breast carcinoma) from 1990 to 2001 there was an overall rate of candidaemia of 0.3% (Jantunnen et al 2004). In 21 cases of FI in 142 consecutive SCT patients with haematological mali ...
... leukaemia (ALL) 2%, 0.7% and 36%. In 1188 patients receiving autologous SCT (470 lymphoma, 395 multiple myeloma, 132 breast carcinoma) from 1990 to 2001 there was an overall rate of candidaemia of 0.3% (Jantunnen et al 2004). In 21 cases of FI in 142 consecutive SCT patients with haematological mali ...
Genetics of host response in leprosy
... account for the major clinical differences observed among patients; (ii) epidemiological studies have been reporting consistently that contacts exhibit the highest risk of developing the disease (household contacts with close consanguineous relationship to the index case are at the highest risk);2 ( ...
... account for the major clinical differences observed among patients; (ii) epidemiological studies have been reporting consistently that contacts exhibit the highest risk of developing the disease (household contacts with close consanguineous relationship to the index case are at the highest risk);2 ( ...
Computational disease gene identification
... ed.ac.uk/suspects/) (25,26): It can be shown that genes implicated in disease share certain patterns of sequence based features like larger gene lengths and broader conservation through evolution. PROSPECTR is an alternating decision tree which has been trained to differentiate between genes likely ...
... ed.ac.uk/suspects/) (25,26): It can be shown that genes implicated in disease share certain patterns of sequence based features like larger gene lengths and broader conservation through evolution. PROSPECTR is an alternating decision tree which has been trained to differentiate between genes likely ...
GSEA - Bioinformatics Unit
... 1. Choose true (default) to have GSEA collapse each probe set in your expression dataset into a single gene vector, which is identified by its HUGO gene symbol. In this case, you are using HUGO gene symbols for the analysis. The gene sets that you use for the analysis must use HUGO gene symbols to i ...
... 1. Choose true (default) to have GSEA collapse each probe set in your expression dataset into a single gene vector, which is identified by its HUGO gene symbol. In this case, you are using HUGO gene symbols for the analysis. The gene sets that you use for the analysis must use HUGO gene symbols to i ...
Epigenetic Effects of Psychological Stressors in Humans
... that our experiences influence our genes is remarkable, although it is still under investigation. More interestingly, the effects of psychological stressors that indirectly interact with the epigenome, have created an obscure landscape for researchers and psychologists. Only recently, scientists sta ...
... that our experiences influence our genes is remarkable, although it is still under investigation. More interestingly, the effects of psychological stressors that indirectly interact with the epigenome, have created an obscure landscape for researchers and psychologists. Only recently, scientists sta ...
Cystic fibrosis and infertility caused by congenital
... Congenital bilateral absence of the vas deferens (CBAVD) leading to obstructive azoospermia in otherwise healthy males is responsible for up to 2% of male infertility (Dubin and Amelar, 1971). CBAVD usually occurs sporadically, but several familial cases have been described (McKusick, 1994). Because ...
... Congenital bilateral absence of the vas deferens (CBAVD) leading to obstructive azoospermia in otherwise healthy males is responsible for up to 2% of male infertility (Dubin and Amelar, 1971). CBAVD usually occurs sporadically, but several familial cases have been described (McKusick, 1994). Because ...
Document
... • Where is the SNP mapped? Exon, promoter, UTR, etc picture of gene with mapped to the gene structure. • How was it discovered? Method • What assurances do you have that it is real? Validated how? • What population – African, European, etc? • What is the allele frequency of each SNP? Common (>10%) ...
... • Where is the SNP mapped? Exon, promoter, UTR, etc picture of gene with mapped to the gene structure. • How was it discovered? Method • What assurances do you have that it is real? Validated how? • What population – African, European, etc? • What is the allele frequency of each SNP? Common (>10%) ...
Clomid (clomiphene citrate USP)
... Patients should be advised that blurring or other visual symptoms such as spots or flashes (scintillating scotomata) may occasionally occur during therapy or shortly after therapy with CLOMID. Patients should be warned that visual symptoms may render such activities as driving a car or operating mac ...
... Patients should be advised that blurring or other visual symptoms such as spots or flashes (scintillating scotomata) may occasionally occur during therapy or shortly after therapy with CLOMID. Patients should be warned that visual symptoms may render such activities as driving a car or operating mac ...
FAQ – Frequently Asked Questions
... Impaired microcirculation leads to an energy deficiency in the cells, because they are not adequately nourished. The initial consequence is reduced productive capacity and later impaired functioning of the affected cells. If many cells of an organ or a tissue are affected, relevant symptoms become a ...
... Impaired microcirculation leads to an energy deficiency in the cells, because they are not adequately nourished. The initial consequence is reduced productive capacity and later impaired functioning of the affected cells. If many cells of an organ or a tissue are affected, relevant symptoms become a ...
Effects of Fluid and Electrolyte Management on
... g were admitted during the study period. Candida species were isolated from blood, urine, or tracheal aspirates for 26 patients. All cerebrospinal fluid cultures yielded negative results. One patient was treated with liposomal amphoB and was excluded. The remaining 25 infants were treated with conve ...
... g were admitted during the study period. Candida species were isolated from blood, urine, or tracheal aspirates for 26 patients. All cerebrospinal fluid cultures yielded negative results. One patient was treated with liposomal amphoB and was excluded. The remaining 25 infants were treated with conve ...
Alzheimer`s disease –mechansims-cause-factors-prevalence
... an age-related disorder that leads to degeneration of motor neurons. The disease begins focally in the central nervous system and then spreads relentlessly. The clinical diagnosis, defined by progressive signs and symptoms of upper and lower motor neuron dysfunction, is confirmed by electromyography ...
... an age-related disorder that leads to degeneration of motor neurons. The disease begins focally in the central nervous system and then spreads relentlessly. The clinical diagnosis, defined by progressive signs and symptoms of upper and lower motor neuron dysfunction, is confirmed by electromyography ...
Experimental treatments for spinal cord injury
... intervention and any subsequent improvement, we need to compare outcomes of a group of patients who received the treatment to those in a control group who did not. While not always feasible, a placebo or "sham" treatment given to a group of control subjects (without letting either the patients or th ...
... intervention and any subsequent improvement, we need to compare outcomes of a group of patients who received the treatment to those in a control group who did not. While not always feasible, a placebo or "sham" treatment given to a group of control subjects (without letting either the patients or th ...
Experimental treatments for spinal cord injury
... How do I tell whether a treatment is part of a valid clinical trial program?............................................4 Why are clinical trials necessary?......................................................................................................................... 4 What makes a good cl ...
... How do I tell whether a treatment is part of a valid clinical trial program?............................................4 Why are clinical trials necessary?......................................................................................................................... 4 What makes a good cl ...
Task 2
... HIV.Classification of immunotropic drugs, their mechanism of action . The principles of clinical application of immunotropic drugs , indications and contraindications for the purpose, dose determination and immunological monitoring of therapeutic effectiveness : immunosuppresive preparations; immune ...
... HIV.Classification of immunotropic drugs, their mechanism of action . The principles of clinical application of immunotropic drugs , indications and contraindications for the purpose, dose determination and immunological monitoring of therapeutic effectiveness : immunosuppresive preparations; immune ...
PrNorditropin NordiFlex®
... short children born small for gestational age (SGA) with a birth weight and/or length below 2 standard deviations (SD), who failed to show catch-up growth (Height Velocity SDS < 0 during the last year) by 2 years of age or later. ...
... short children born small for gestational age (SGA) with a birth weight and/or length below 2 standard deviations (SD), who failed to show catch-up growth (Height Velocity SDS < 0 during the last year) by 2 years of age or later. ...
The PAH gene, phenylketonuria, and a paradigm shift
... 1999] as a monomer of 452 amino acids with regulatory, catalytic, and tetramerization domains; the monomer assembles to form the functional dimeric and tetrameric forms of the enzyme (see Erlandsen and Stevens [1999]). The PAH gene maps to chromosome 12, region 12q23.2. The finished total sequence f ...
... 1999] as a monomer of 452 amino acids with regulatory, catalytic, and tetramerization domains; the monomer assembles to form the functional dimeric and tetrameric forms of the enzyme (see Erlandsen and Stevens [1999]). The PAH gene maps to chromosome 12, region 12q23.2. The finished total sequence f ...
The molecular basis of human retinal and vitreoretinal
... Monogenic diseases of the retina and vitreous affect approximately 1 in 2000 individuals, or more than 2 million people worldwide. Consequences for affected individuals are variable and can range from legal blindness in the most severe forms of retinal degenerations (Leber congenital amaurosis, LCA) ...
... Monogenic diseases of the retina and vitreous affect approximately 1 in 2000 individuals, or more than 2 million people worldwide. Consequences for affected individuals are variable and can range from legal blindness in the most severe forms of retinal degenerations (Leber congenital amaurosis, LCA) ...
Gene therapy
Gene therapy is the therapeutic delivery of nucleic acid polymers into a patient's cells as a drug to treat disease. Gene therapy could be a way to fix a genetic problem at its source. The polymers are either expressed as proteins, interfere with protein expression, or possibly correct genetic mutations.The most common form uses DNA that encodes a functional, therapeutic gene to replace a mutated gene. The polymer molecule is packaged within a ""vector"", which carries the molecule inside cells.Gene therapy was conceptualized in 1972, by authors who urged caution before commencing human gene therapy studies. By the late 1980s the technology had already been extensively used on animals, and the first genetic modification of a living human occurred on a trial basis in May 1989 , and the first gene therapy experiment approved by the US Food and Drug Administration (FDA) occurred on September 14, 1990, when Ashanti DeSilva was treated for ADA-SCID. By January 2014, some 2,000 clinical trials had been conducted or approved.Early clinical failures led to dismissals of gene therapy. Clinical successes since 2006 regained researchers' attention, although as of 2014, it was still largely an experimental technique. These include treatment of retinal disease Leber's congenital amaurosis, X-linked SCID, ADA-SCID, adrenoleukodystrophy, chronic lymphocytic leukemia (CLL), acute lymphocytic leukemia (ALL), multiple myeloma, haemophilia and Parkinson's disease. Between 2013 and April 2014, US companies invested over $600 million in the field.The first commercial gene therapy, Gendicine, was approved in China in 2003 for the treatment of certain cancers. In 2011 Neovasculgen was registered in Russia as the first-in-class gene-therapy drug for treatment of peripheral artery disease, including critical limb ischemia.In 2012 Glybera, a treatment for a rare inherited disorder, became the first treatment to be approved for clinical use in either Europe or the United States after its endorsement by the European Commission.