Purpose
The functional role of the
FSHR
promoter −29G/A polymorphism (rs1394205) in men is not clear. Some studies failed to find a relationship between the
FSHR
−29G/A and follicle-stimulating ...hormone (FSH) levels and did not associate the SNP with male infertility. Only one study showed that the
FSHR
−29 SNP modulates serum FSH levels in Baltic young male cohort. Because the SNP −29G/A has to be shown to have a strong effect on in vitro transcription activity of the
FSHR
promoter and the activation of
FSHR
is necessary for a normal FSH function, this study was undertaken to assess whether the
FSHR
-29G/A SNP modulates the gonadal endocrine function in men.
Methods
A total of 200 men with alteration of conventional sperm parameters or normozoospermia (according to the parameters WHO 2010), were genotyped by TaqMan Assay. Hormone levels were measured by immunoassay, and sperm analysis was performed according to the World Health Organization criteria.
Results
A significant gradient of increasing FSH levels across the
FSHR
−29G/A genotypes was observed (
p
< 0.01). Among normozoospermic men (
n
= 110), those with
FSHR
−29A-allele carriers (GA + AA and AA) had higher serum FSH (
p
< 0.01) and LH levels (
p
< 0.05) and higher body mass index (BMI) (
p
< 0.01) compared to men with the GG genotype. The carrier status of rs1394205 genotypes did not affect the other endocrine parameters neither in men with altered sperm parameters nor in normozoospermic men.
Conclusions
The
FSHR
−29G/A polymorphism modulates FSH and, for the first time, LH serum levels and BMI in normozoospermic men. These findings underline the importance to pay close attention to the studies of genetic variations associated with clinical-endocrine parameters.
Purpose
The
FSHB
gene -211G/T polymorphism has been reported to modulate gene expression and to cause inter-individual differences in FSH serum levels in men. This study was undertaken to assess the ...functional relevance of this polymorphism on gonadotropin and total testosterone serum levels and sperm parameters in men from Eastern Sicily (Italy).
Methods
To accomplish this, 200 men with abnormal conventional sperm parameters or normozoospermia (according to the parameters of WHO 2010) were genotyped by TaqMan Assay.
Results
The frequency of
FSHB
-211 T allele was significantly higher (
p
< 0.005) in patients with altered conventional sperm parameters (18.9% of chromosomes) compared to that observed in men with normozoospermia (10.9% of chromosomes). Decreasing serum levels of FSH and LH were observed across the three
FSHB
-211 genotype subgroups (
p
< 0.001 and
p
< 0.05, respectively). In addition, the FSHB -211G/T polymorphism showed a total testosterone downward trend that became more evident in men with the TT genotype compared to subjects with the GG genotype (
p
= 0.05). Furthermore, we found a trend towards decreased sperm concentration, total sperm count, sperm forward motility and testicular volume in men with GT and TT genotypes.
Conclusions
These findings showed that the
FSHB
-211 G/T polymorphism modulates male gonadal function with a clear influence on hormonal levels and sperm parameters.
Capsule
The present study was undertaken to evaluate the distribution of the
FSHB
-211 G/T in men with normal or abnormal sperm parameters from Southern Italy to assess its functional relevance on the serum levels of reproductive hormones and on sperm parameters in men.
Abstract Mutations of the cystic fibrosis transmembrane regulator ( CFTR ) gene and polymorphisms, such as the (TG)m and Tn polymorphic loci in intron 8 at the splice acceptor site of exon 9, can ...cause male infertility. The aim of this study was to investigate the frequency of the most prevalent cystic-fibrosis-causing mutations, the IVS8-Tn alleles and IVS8-TG12 variant in the presence of IVS8–5T in patients with altered semen parameters (group I with obstructive azoospermia, group II with secretory azoospermia and group III with severe oligozoospermia) compared with a control group with normozoospermia. CFTR mutations were found in 26.5% and 14.3% of chromosomes of patients of group I and II respectively ( P < 0.001, P < 0.05). The frequency of the 5T allele was 23.5% in patients in group I ( P < 0.01), and was linked exclusively with TG12 allele. The present study reports for the first time a high proportion of the 5T allele in patients in group III (9.2%, P < 0.05). These results underline the importance of performing molecular analysis of mutations and IVS8-Tn polymorphism in the CFTR gene and appropriate genetic counselling to all couples undergoing assisted reproductive technologies when the partner has azoospermia or severe oligozoospermia.
A hybrid evolutionary learning algorithm is presented that synthesizes a complete multiclass pattern recognition system. The approach uses a multifaceted representation that evolves layers of ...processing to perform feature extraction from raw input data, select cooperative sets of feature detectors, and assemble a linear classifier that uses the detectors' responses to label targets. The hybrid algorithm, called hybrid evolutionary learning for pattern recognition (HELPR), blends elements of evolutionary programming, genetic programming, and genetic algorithms to perform a search for an effective set of feature detectors. Individual detectors are represented as expressions composed of morphological and arithmetic operations. Starting with a few small random expressions, HELPR expands the number and complexity of the features to produce a recognition system that achieves high accuracy. Results are presented that demonstrate the performance of HELPR-generated recognition systems applied to the task of classification of high-range resolution radar signals.
The possibility of exploiting multiple resources is usually regarded as positive from both the economic and the environmental point of view. However, resource switching may also lead to unsustainable ...growth and, ultimately, to an equilibrium condition which is worse than the one that could have been achieved with a single resource. We developed a dynamic model where users exploit multiple resources and have different levels of preference among them. In this setting, exploiting multiple resources leads to worse outcomes in both economic and ecological terms than the single resource case under a wide range of parameter configurations. Our arguments are illustrated using two empirical situations, namely oil drilling in the North Sea and whale hunting in the Antarctic.
► Exploiting multiple resources is usually regarded as both economically and ecologically positive. ► In this setting, exploiting multiple resources leads to worse outcomes than the single-resource case. ► We illustrate our argument modelling two empirical situations.
We analyzed leukocyte DNA of 19 patients from 12 Spanish families with McArdle's disease (myophosphorylase deficiency). In 15 patients, the enzyme defect was documented histochemically in muscle, and ...in four the diagnosis was based on clinical and laboratory data. Three patients were homozygous and six were heterozygous for the nonsense mutation at codon 49 (R49X). Our findings indicate that the R49X mutation, which is common in English and American patients, is also present in Spanish patients with McArdle's disease, but at a lower frequency.
This correspondence presents two soft morphological algorithms that process multiple images simultaneously. The first algorithm performs best when the structuring elements contain less than 19 ...points; whereas, the second algorithm should be used for larger structuring elements. Theoretical and experimental analyses show these algorithms are faster than the conventional algorithm.
The camera calibration process relates camera system measurements (pixels) to known reference points in a three-dimensional world coordinate system. The calibration process is viewed as consisting of ...two independent phases: the first is removing geometrical camera distortion so that rectangular calibration grids are straightened in the image plane, and the second is using a linear affine transformation as a map between the rectified camera coordinates and the geometrically projected coordinates on the image plane of known reference points. Phase one is camera-dependent, and in some systems may be unnecessary. Phase two is concerned with a generic model that includes 12 extrinsic variables and up to five intrinsic parameters. General methods handling additional constraints on the intrinsic variables in a manner consistent with explicit satisfaction of all six constraints on the orthogonal rotation matrix are presented. The use of coplanar and noncoplanar calibration points is described.< >
This paper describes one aspect of a machine-learning system called HELPR that blends the best aspects of different evolutionary techniques to bootstrap- up a complete recognition system from ...primitive input data. HELPR uses a multi- faceted representation consisting of a growing sequence of non-linear mathematical expressions. Individual features are represented as tree structures and manipulated using the techniques of genetic programming. Sets of features are represented as list structures that are manipulated using genetic algorithms and evolutionary programming. Complete recognition systems are formed in this version of HELPR by attaching the evolved features to multiple perceptron discriminators. Experiments on datasets from the University of California at Irvine (UCI) machine-learning repository show that HELPR's performance meets or exceeds accuracies previously published.
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