Structural variants of chromosome 9: a possibile association with hypogonadotropic hypogonadism

We report two cases of structural variations of chromosome 9 associated with hypogonadotropic hypogonadism and azoospermia in adolescent boys. One patient also had a partially imperforated urethral meatus. Histological examination revealed that both had hypotrophic and underdeveloped testes. There was no LH and FSH response to LH-RH stimulation nor was there any response to naloxone tests. Basal and HCG stimulated plasma testosterone values were below normal prepubertal levels. As the administration of gonadotrophins did not improve the clinical and hormonal findings, alternative androgen therapy was necessary to achieve secondary sexual characteristics. Although they reached a good level of androgenization, their testes were still very small and azoospermia remained, as confirmed by repeated semen analyses. A possible association between chromosome 9 polymorphisms and hypothalamo-pituitary axis abnormalities is suggested. It is hypothesized that structural variants of chromosome 9 are not unrelated occurrences. Furthermore, and in view of the fact that they can lead to a high risk of azoospermia and infertility, such variants call for clinical investigatio

General topologic environment of the Russian railway network

Basic structural properties of Russian railways are explored through the complex network scope. We imply ontology where railway stations portray nodes, while links are represented by trains plying among stations. The information L- network model founded on route is built and its topology is compared with Indian and Pakistan analogues. The network model demonstrates small world properties and its assortative nature. Structural vulnerability is assessed for random attacks, and those on degree and strength targets. Taking into account series of the node centralities, the most important sites are identified as those that could help in clarifying the sensitive points in the network. These sites should be in the focus of pre-protection and post hazard recovery. Also, a P-model is touched and an S- and H- model idea is proposed for further analysis of transportation networks

Public health component in building information modeling

A building information modelling (BIM) conception has established itself as an effective and practical approach to plan, design, construct, and manage buildings and infrastructure. Analysis of the governance literature has shown that the BIM-developed tools do not take fully into account the growing demands from ecology and health fields. In this connection, it is possible to offer an optimal way of adapting such tools to the necessary consideration of the sanitary and hygienic specifications of materials used in construction industry. It is proposed to do it through the introduction of assessments that meet the requirements of national sanitary standards. This approach was demonstrated in the case study of Revit® program

Ductopenia and fetal liver-like architecture as unique and evocative sign of Turner syndrome

Abstract. -BACKGROUND: Turner syndrome is the most common genetic disorder in females. In most subjects, with a normal physical appearance at birth, the diagnosis is suspected long after birth because of short stature, delayed puberty, primary or secondary amenorrhea or infertility. Abnormalities of liver function tests are reported in literature, with a prevalence ranging from 20% to 80%. In most subjects liver diseases are selflimiting, associated with obesity, hormonal therapy and autoimmune diseases. An association between Turner syndrome and cryptogenic liver disease has been reported. Abnormalities of liver function tests could be the unique sign of Turner syndrome in subjects with normal phenotypes. The histological picture of "fetal liver-like architecture" and "ductopenia" is of fundamental importance for the diagnosis of chromosomopathy. AIM: Review the causes of hypertransaminasemia by focusing on more rare as metabolic and genetic diseases. MATERIALS AND METHODS: We evaluated a 10 year old girl with a normal phenotype affected by chronic hypertransaminasemia and cholestasis, in whom a needle liver biopsy was performed after the most common causes of hypertransaminasemia were excluded. RESULTS: Liver histological evaluation revealed a smoldering colangiopathy with mild ductopenia and a fetal liver-like architecture. Turner syndrome, suspected on the basis of this histological picture, was confirmed by a pelvic ultrasound and a chromosome analysis. CONCLUSIONS: The histological features of "fetal liver-like architecture" and "ductopenia" represent an evocative sign that could indicate the diagnostic suspicion of Turner syndrome in a subject lacking in signs or symptoms of this disease. It is important to perform a pelvic ultrasound and an endocrinological evaluation in all females with chronic asymptomatic hypertransaminasemia even though they have normal phenotypes

Dopamine DA-2 receptor sites in the rat renal cortex: a light microscope autoradiographic study.

The binding of the DA-2 receptor antagonist [3H]-spiroperidol, in the presence of appropriate concentrations of ketanserin to avoid the possible labelling of 5-HT-2 sites, was studied in sections of rat kidney using combined radioreceptor assay and light microscope autoradiography. [3H]-Spiroperidol was bound by sections of rat kidney in a manner consistent with the labelling of a single class of high affinity of DA-2 sites. Scatchard analysis of the binding isotherms showed a Kd value of 2.5 +/- 0.2 nmol/l and a Bmax value of 129.5 +/- 6.8 fmol/mg protein. Light microscope autoradiography, centered on the renal cortex, revealed the development of silver grains within cortical convoluted tubules. Silver grains were rather homogeneously distributed to both proximal and distal convoluted tubules, with no specific glomerular localization. These findings do not support the assumption of the existence of glomerular DA-2 receptors in the rat kidney

Vasoactive intestinal polypeptide receptors in rat cerebral vessels: an autoradiographic study.

1. Localization and pharmacological properties of the vasoactive intestinal polypeptide (VIP) receptors in rat circle of Willis arteries and in the arteries of pial-arachnoid membrane were studied using light microscope autoradiography combined with radioreceptor binding techniques. 2. [125I]-VIP was specifically bound to sections of rat cerebral arteries with a dissociation constant value of 0.5 nM and a binding site density of 80 fmol mg protein-1. Radioreceptor binding experiments revealed that the binding characteristics of [125I]-VIP were consistent with the labelling of specific VIP receptors. The rank order of potency of various substances tested to inhibit [125I]-VIP binding was the following: VIP greater than peptide histidine methionine greater than secretin greater than glucagon. 3. Light microscope autoradiography revealed the localization of [125I]-VIP binding sites in the medial layer of circle of Willis and pial arteries. Quantitative determination of [125I]-VIP binding site density in the different circle of Willis arteries demonstrated a higher accumulation of silver grains in the anterior than in the posterior cerebral arteries. Pial arteries are richer in VIP receptor sites than circle of Willis arteries. 4. These results suggest that the physiological neurogenic vasodilation elicited by VIP on cerebral arteries is mediated by the interaction with specific receptor sites located primarily within cerebral vessels structures involved in the control of cerebrovascular resistance

USE OF 3H-CLOZAPINE AS A LIGAND OF THE DOPAMINE D4 RECEPTOR SUBTYPE IN PERIPHERAL TISSUES.

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