POR polymorphisms are associated with 21 hydroxylase deficiency.

PURPOSE: Genotype-phenotype correlation in congenital 21 hydroxylase deficiency is strong but by no means absolute. Indeed, clinical and hormonal features may vary among patients carrying similar CYP21A2 mutations, suggesting that modifier genes may contribute to the phenotype. Aim of the present study was to evaluate whether polymorphisms in the p450  oxidoreductase (POR) gene may affect clinical features in patients with 21 hydroxylase deficiency METHODS: Sequencing of the POR gene was performed in 96 patients with 21 hydroxylase deficiency (49 classic, 47 non-classic) and 43 control subjects. RESULTS: Prevalence of POR polymorphisms in patients with 21 hydroxylase was comparable to controls and known databases. The rs2228104 polymorphism was more frequently associated with non-classic vs classic 21 hydroxylase deficiency (allelic risk 7.09; 95% C.I. 1.4-29.5, p < 0.05). Classic 21 hydroxylase-deficient carriers of the minor allele in the rs2286822/rs2286823 haplotype presented more frequently the salt-wasting form (allelic risk 1.375; 95% C.I. 1.138-1.137), more severe Prader stage at birth (allelic risk 3.85; 95% C.I. 3.78-3.92), higher ACTH levels, and younger age at diagnosis. CONCLUSIONS: Polymorphisms in the POR gene are associated with clinical features of 21 hydroxylase deficiency both as regards predisposition to classic vs non-classic forms and severity of classic adrenal hyperplasia.

Measurement of height velocity is an useful marker for monitoring pituitary function in patients who had traumatic brain injury.

To assess the incidence of abnormal neuroendocrine function post-traumatic brain injuriy (TBI) in a large group of paediatric patients and its correlations with clinical parameters (Glasgow coma scale-GCS, Glasgow outcome scale-GOS, TC marshall scale, height velocity). We evaluated 70 patients [58 M, 12 F; age at the time of TBI (mean ± SEM) 8.12 ± 4.23 years] previously hospitalized for TBI at the "Regina Margherita" Hospital, in Turin and "Maggiore della Carità Hospital" in Novara, Italy, between 1998 and 2008. All patients included underwent: auxological, clinical, hormonal and biochemical assessments at recall (after at least 1 year from TBI to T0); auxological visit after 6 months (T6) and hormonal assessments at 12 months (T12) in patients with height velocity (HV) below the 25th centile. At T0, 4 cases of hypothalamus-pituitary dysfunction had been diagnosed; At T6 20/70 patients had an HV <25th centile, but no one had HV < the 3rd centile limit. At T12, among the 20 patients with HV <25th centile, in 13 patients the HV was below the 25th centile and GHRH + Arginine test has been performed. Four subjects demonstrated an impaired GH peak and were classified as GH deficiency (GHD). Of these 4 subjects, 3 subjects showed isolated GHD, while one patient showed multiple hypopituitarism presenting also secondary hypocortisolism and hypothyroidism. The GCS at admission and GOS do not correlate with the onset of hypopituitarism. A simple measurement of the height velocity at least 1 year after the TBI, is enough to recognize patients with a pituitary impairment related to GH deficiency. We suggest to follow-up paediatric population who had TBI with auxological evaluations every 6 months, limiting hormonal evaluation in patients with a reduction of height velocity below the 25th centile limit.

Point seroprevalence of canine influenza virus H3N8 in dogs participating in a flyball tournament in Pennsylvania.

OBJECTIVE: To determine the seroprevalence of antibody against canine influenza virus H3N8 in a group of pet dogs that participate in flyball in Pennsylvania. DESIGN-SEROLOGIC SURVEY: Animals-Dogs attending a flyball tournament in Downingtown, Pa, from November 13 to 14, 2009. Procedures-Blood samples were collected from dogs following owner consent. Medical, travel, and activity history of the dogs for the previous 10.5 months was obtained from owners. Serum was harvested and submitted to Cornell University Diagnostic Laboratory for measurement of antibody against canine influenza virus H3N8 via hemagglutination inhibition testing. RESULTS: Serum samples were obtained from 100 of 256 dogs participating in the flyball event. Although 3 of the 100 (3%) samples had positive results for antibody against canine influenza, none of the associated dogs had respiratory signs of infection (eg, coughing, sneezing, or nasal or ocular discharge) in the 10.5 months prior to testing. Eleven dogs had a history of respiratory signs, but none of those dogs had antibody against canine influenza H3N8. In addition, none of the study dogs had been vaccinated against canine influenza H3N8. CONCLUSIONS AND CLINICAL RELEVANCE: Although canine influenza is considered enzootic in certain areas of the country (eg, Pennsylvania or New York), this study identified a low seroprevalence in dogs considered at high risk for infection given their life conditions and geographic origins. More research is warranted to elucidate the prevalence of exposure to the H3N8 virus in competitive sporting dogs and determine whether vaccination is warranted in such dogs.

Mammogram and diagnostic X-rays--evidence of protective Bystander, Adaptive Response (AR) radio-protection and AR retention at high dose levels.

PURPOSE: The recently published dose response data by Dr Redpath's research group for low energy (30 kVp) mammography X-rays, displaying Adaptive Response (AR) radio-protective behavior, is significant for millions of American women that undergo annual breast cancer screening. We here, using the recently developed Microdose Model that encompasses the Bystander Effect (BE) and AR behavior, examine the data for BE, AR and high radiation domination by the priming radiations high dose Direct Damage. RESULTS: The dose response is divided into three regions, Bystander Effect Region, Adaptive Response Region and Direct Damage Region (with possible retention of the AR protection). The Bystander Effect Region is below the microdose Specific Energy deposition for single photon induced charged particle traversals through the cell nucleus (the microdose Specific Energy Deposition per Traversal value = < z1 > = 0.638 cGy per Hit). Strong evidence is shown that a protective BE of about 50% occurs at a very low dose of 0.054 cGy, the BE is depleted reverting the response back to nearly the zero dose control value at 0.27 cGy, a 42% AR protection then is developed at 1.08 cGy and then the Direct Damage increasingly begins to dominate in the range from 5.4-21.6 cGy. Using the precise Method of Maximum Likelihood Estimator (MLE), the high dose Direct Damage Region is examined. We show that to the dose of 21.6 cGy the AR protection is retained in spite of the significant Direct Damage. We apply the same MLE analysis to the Redpath data for 137Cs gammas and find that the AR protection is completely dissipated at high Direct Damage inducing doses of 100 cGy. CONCLUSIONS: The model shows that a protective BE of about 50% occurs at a low factor of 12 below single tracks traversals where less than 10% of the cell nuclei have been hit. Poisson distributed single tracks activates the 42% AR protection. The AR protection is retained at high dose but one needs to understand why 137Cs does not. Other Redpath group AR data sets for 137Cs, 232 MeV protons, and brachytherapy 125I photons did not reveal BE since the lowest data points were above the < z1 > for the radiations, but diagnostic X-rays do.

[Lymphangiomatosis of the spleen. Report of a clinical case]. / La linfangiomatosi splenica, a proposito di un caso clinico.

Lymphangiomatosis confined to the spleen is a very are condition. The authors in this article describes one new case and briefly reviews the literature. In this case, after the exclusion of an hydatidosis of the spleen, a total splenectomy was performed. The histologic findings confirmed the lymphangiomatosis of the spleen. The authors emphasize the surgical strategy in splenic lymphangiomyomatosis, infact the total splenectomy is mandatory, because the splenic parenchyma is nearly completely substitute by the cysts. For this reason is preferably, before surgery, to perform the antibateric profilaxis against the OPSI.

[The use of electropherogram in a clinical setting (author's transl)]. / L'elettroferogramma in clinica.

The AA. have spent several years working on the correlation between EPG patterns and diagnosis upon discharge. They then attempted to codify those abnormalities which were statistically related to different illnesses. This codification should not be considered definitive; however, it can be suggestive of further studies especially for those hospitals equipped with a computer which can correlate EPG patterns with the initial diagnosis or the diagnosis on discharge.

[A proposed hepatic pie chart]. / Progetto di istantanea epatica.

The AA. have chosen 12 tests to organize an "hepatic flash" after a selection out of 180 cases scheduled as the table no. I through a set of tests showing step by step any modifications in compliance with the sensibility, reliability, statistical clinical and physio-pathological meaning of each test. The 12 tests are set out by circular abscissae of a circus according to the pathogenetic mechanisms leading to their modifications. By the radial ordinates, instead, it is shown the decreasing and increasing values which every test may assume. An hypothetic line (hepatogram) links then the values set out during the process of the disease in such a manner that the particular shapes assumed by the line itself show quickly and visually the spreading rate of the disease process.