Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report.

Prokineticin 2 (Prok2) or prokineticin-receptor2 (Prok-R2) gene mutations are associated with Kallmann syndrome (KS). We describe a new homozygous mutation of Prok-R2 gene in a man displaying KS with an apparent reversal of hypogonadism. The proband, offspring of consanguineous parents, presented at age 19 years with absent puberty, no sense of smell, low testosterone and gonadotrophin levels. Magnetic resonance imaging showed olfactory bulb absence. The patient achieved virilization and spermatogenesis with gonadotrophin administration. Two years after discontinuing hormonal therapy, he maintained moderate oligozoospermia and normal testosterone levels. Prok2 and Prok- R2 gene sequence analyses were performed. The proband had a homozygous mutation in Prok-R2 exon 2 that harbours the c.T820>A base substitution, causing the introduction of an aspartic acid in place of valine at position 274 (Val274Asp). His mother had the same mutation in heterozygous state. This report describes a novel homozygous mutation of Prok-R2 gene in a man with variant KS, underlying the role of Prok-R2 gene in the olfactory and reproductive system development in humans. Present findings indicate that markedly delayed activation of gonadotrophin secretion may occur in some KS cases with definite gene defects, and that oligozoospermia might result from a variant form of reversible hypogonadotrophic hypogonadism

Panarchy. Towards voluntary communities

An anthology on Panarchy edited by Gian Piero de Bellis for World Wide Wisdom, Saint-Imier, 2023

Research Trends on Greenhouse Engineering Using a Science Mapping Approach

Horticultural protected cultivation has spread throughout the world as it has proven to be extremely effective. In recent years, the greenhouse engineering research field has become one of the main research topics within greenhouse farming. The main objectives of the current study were to identify the major research topics and their trends during the last four decades by analyzing the co-occurrence network of keywords associated with greenhouse engineering publications. A total of 3804 pertinent documents published, in 1981-2021, were analyzed and discussed. China, the United States, Spain, Italy and the Netherlands have been the most active countries with more than 36% of the relevant literature. The keyword cluster analysis suggested the presence of five principal research topics: energy management and storage; monitoring and control of greenhouse climate parameters; automation of greenhouse operations through the internet of things (IoT) and wireless sensor network (WSN) applications; greenhouse covering materials and microclimate optimization in relation to plant growth; structural and functional design for improving greenhouse stability, ventilation and microclimate. Recent research trends are focused on real-time monitoring and automatic control systems based on the IoT and WSN technologies, multi-objective optimization approaches for greenhouse climate control, efficient artificial lighting and sustainable greenhouse crop cultivation using renewable energy

Tumour sublines with different metastatic capacity induce similar blood coagulation changes in the host.

This paper is aimed at investigating how metastatic tumour growth influenced the haemostatic system of the host. Blood platelet count, blood fibrinogen level, the activated partial thromboplastin time (APTT) and the prothrombin time (PT) were determined at various intervals during growth and metastasis of a murine fibrosarcoma (mFS6) or one of its sublines with different metastatic capacity. Progressive thrombocytopenia and increase in fibrinogen level were observed during development of the tumour in all the animal groups studied, irrespective of the metastatic potential of the various sublines. No significant changes were observed in the PT or APTT values. These data support the concept that primary rather than metastatic growth influences the haemostatic system of tumour-bearing animals

Manufacture and electromechanical characterization of highly conductive multilayer-graphene/polydimethylsiloxane flexible paper

Multilayer graphene (MLG) micro- and nanosheets have been investigated for use as nanofiller in polymer composite in order to obtain multifunctional materials with enhanced electrical conductivity and mechanical properties. In order to take advantage of the conductivity properties of MLG sheets, a large amount of nanofiller should be used. Although, increasing filler loading alters the mechanical properties of the composite because of serious filler agglomeration. It has been shown that a promising approach to realize electrically conductive light-weight composite is to incorporate an electrically conductive graphene paper (GP), obtained by vacuum filtration of a nanofillers suspension, into the polymer matrix. One advantage of infiltrating the GP with polymer is that the tensile modulus of the composite can be greatly improved as compared with either GP or neat polymer, without weakening the electrical properties of the highly continuous nanofillers network formed in the paper making process. In this work we present experimental results related to the fabrication process and the electromechanical behaviour of a free standing, highly-conductive MLG paper impregnated with polydimethylsiloxane (PDMS)

Phylogenetic position of a copper age sheep (Ovis aries) mitochondrial DNA.

Background: Sheep (Ovis aries) were domesticated in the Fertile Crescent region about 9,000-8,000 years ago. Currently, few mitochondrial (mt) DNA studies are available on archaeological sheep. In particular, no data on archaeological European sheep are available. Methodology/Principal Findings: Here we describe the first portion of mtDNA sequence of a Copper Age European sheep. DNA was extracted from hair shafts which were part of the clothes of the so-called Tyrolean Iceman or O¨ tzi (5,350 - 5,100 years before present). Mitochondrial DNA (a total of 2,429 base pairs, encompassing a portion of the control region, tRNAPhe, a portion of the 12S rRNA gene, and the whole cytochrome B gene) was sequenced using a mixed sequencing procedure based on PCR amplification and 454 sequencing of pooled amplification products. We have compared the sequence with the corresponding sequence of 334 extant lineages. Conclusions/Significance: A phylogenetic network based on a new cladistic notation for the mitochondrial diversity of domestic sheep shows that the O¨ tzi’s sheep falls within haplogroup B, thus demonstrating that sheep belonging to this haplogroup were already present in the Alps more than 5,000 years ago. On the other hand, the lineage of the O¨ tzi’s sheep is defined by two transitions (16147, and 16440) which, assembled together, define a motif that has not yet been identified in modern sheep populations

A fast atom bombardment-mass spectrometric method to quantitate lysophosphatidylserine in rat brain.

A method to quantitate lysophosphatidylserine by fast atom bombardment-mass spectrometry using 1-hexa-decanoyl-sn-glycero-3-phospho-L-serine as internal standard is described. The standard curve is linear with a correlation coefficient r2 = 0.999 from 10 to 1000 ng. This curve has been used to quantitate LPS in rat brain using phosphorus assay as a test control. We found 475 +/- 70 ng of LPS in 1 mg of tissue (n = 3). This method presents advantages due to its sensitivity and its capability to give molecular information of the unmodified compound

Interplay between non-coding rna transcription, stringent/relaxed phenotype and antibiotic production in streptomyces ambofaciens

While in recent years the key role of non-coding RNAs (ncRNAs) in the regulation of gene expression has become increasingly evident, their interaction with the global regulatory circuits is still obscure. Here we analyzed the structure and organization of the transcriptome of Streptomyces ambofaciens, the producer of spiramycin. We identified ncRNAs including 45 small-RNAs (sRNAs) and 119 antisense-RNAs (asRNAs I) that appear transcribed from dedicated promoters. Some sRNAs and asRNAs are unprecedented in Streptomyces and were predicted to target mRNAs encoding proteins involved in transcription, translation, ribosomal structure and biogenesis, and regulation of morphological and biochemical differentiation. We then compared ncRNA expression in three strains: (i) the wild-type strain; (ii) an isogenic pirA-defective mutant with central carbon metabolism imbalance, “relaxed” phenotype, and repression of antibiotic production; and (iii) a pirA-derivative strain harboring a “stringent” RNA polymerase that suppresses pirA-associated phenotypes. Data indicated that the expression of most ncRNAs was correlated to the stringent/relaxed phenotype suggesting novel effector mechanisms of the stringent response

Effects of the ionizing radiation disinfection treatment on historical leather

Microorganisms often cause significant damage on historical objects. The archive or library materials as well as textile or leather artifacts suffer serious attacks that need appropriate care treatments. Several biocide processes have been implemented but often their application does not preserve the material of the good. The objective of this work is the disinfection through ionizing radiation of leather wallpaper from the museum building Palazzo Chigi in Ariccia (Rome, Italy). The controlled sterilization treatments were carried out using X-ray beams to eliminate the microorganisms present on the leather and maintaining unchanged the properties of the constituent material. Some fragments of decorated leather wallpaper, dating back to the 1700s, were irradiated with X-rays up to 5,000 Gy. The amount of microorganisms was evaluated by microbiological analysis before and after X-ray irradiation treatments to identify the dose that inhibits the bacterial load. It will be shown how the results obtained by the application of different chemical-physical techniques (Scanning Electron Microscopy, Fourier Transform Infrared spectroscopy and Light Transmission Analysis) have helped in the evaluation of the impact of the X-rays on leather chemical and physical integrity

Algorithm for automatic genotype calling of single nucleotide polymorphisms using the full course of TaqMan real-time data

Single nucleotide polymorphisms (SNPs) are often determined using TaqMan real-time PCR assays (Applied Biosystems) and commercial software that assigns genotypes based on reporter probe signals at the end of amplification. Limitations to the large-scale application of this approach include the need for positive controls or operator intervention to set signal thresholds when one allele is rare. In the interest of optimizing real-time PCR genotyping, we developed an algorithm for automatic genotype calling based on the full course of real-time PCR data. Best cycle genotyping algorithm (BCGA), written in the open source language R, is based on the assumptions that classification depends on the time (cycle) of amplification and that it is possible to identify a best discriminating cycle for each SNP assay. The algorithm is unique in that it classifies samples according to the behavior of blanks (no DNA samples), which cluster with heterozygous samples. This method of classification eliminates the need for positive controls and permits accurate genotyping even in the absence of a genotype class, for example when one allele is rare. Here, we describe the algorithm and test its validity, compared to the standard end-point method and to DNA sequencing