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The Theodosian walls of Constantinople have suffered many partial destructions in their long-lasting life, often because of strong seismic events, undergoing subsequent reconstructions. With reference to the 1999 Kocaeli earthquake, the article illustrates a procedure implemented to understand the damages suffered by one of the towers (tower 19) of this magnificent piece of heritage, that had just been partially reconstructed in the framework of a large manutention and preservation program of the whole historic defensive system. The seismic action on the tower was calculated considering local seismic site amplification, and the seismic behaviour of the masonry tower was analysed taking into account dynamic soil-structure interaction. Based on the available level of knowledge, the seismic demand of the tower is first evaluated by the classical modal response analysis and then by a linear time domain approach. Under both situations, the comparison between the compliant and the fixed base models allowed to recognize the detrimental effect of Soil Structure Interaction (SSI). Furthermore, the dynamic linear analysis allowed to detect the mechanism of earthquake induced triggering damage into the masonry panels. [ABSTRACT FROM AUTHOR]

The problem of failure envelopes of pile groups subjected to vertical and eccentric load is investigated both theoretically and experimentally. A critical review of literature works on failure envelopes for pile groups under combined axial-moment loading is first provided. Emphasis is placed on a recent, exact solution derived from theorems of limit analysis by idealizing piles as uniaxial rigid-perfectly plastic elements. The application of the relevant equations over a practical range of problems needs only the axial capacities in compression and uplift of the isolated piles. An intense program of centrifuge experiments carried out along with different load paths on annular shaped pile groups aimed at validating the equations pertinent to the above solution is presented and discussed. The endpoints of the load paths followed in the centrifuge lie approximately above the analytical failure envelope, giving confidence that the reference equations can be reliably adopted to assess the capacity of a pile group under combined axial-moment loading. Finally, the kinematics of the collapse mechanism observed experimentally is compared to that determined from the application of the reference theory. [ABSTRACT FROM AUTHOR]

Annular shaped pile groups are a very common foundation layout for onshore wind turbines and other slender structures. In this study, their performance under vertical loads of moderate to high eccentricity, including moment rotation response and bearing capacity, was investigated by centrifuge testing on small scale physical models embedded in kaolin clay. To identify experimentally the capacity of the examined pile groups under different load paths, the model foundations were loaded monotonically until a clear collapse mechanism was achieved. The testing procedure and the proposed interpretation methodology can be easily adapted to load paths or pile layouts other than those considered in the current study. The experimental data can be adopted as a useful benchmark for mathematical models aimed at predicting the response of pile groups to complex load paths. The results of this testing program can also be used to assess the degree of conservatism of current methods adopted by industry for the design of piled foundations subjected to eccentric loads. [ABSTRACT FROM AUTHOR]

Background: Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsa protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases characterized by multiple hormone resistances and Albright's Hereditary Osteodystrophy (AHO) the current classification results inadequate because of the clinical overlap between molecular subtypes and a standard clinical approach is still missing. In the present paper several members of the Study Group Endocrine diseases due to altered function of Gsa protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) have reviewed and updated the clinical-molecular data of the largest case series of (epi)/genetically characterized AHO/PHP patients; they then produced a common healthcare pathway for patients with these disorders. Methods: The molecular analysis of the GNAS gene and locus identified the causal alteration in 74 subjects (46 genetic and 28 epigenetic mutations). The clinical data at the diagnosis and their evolution during up to 15 years follow-up were collected using two different cards. Results: In patients with genetic mutations the growth impairment worsen during the time, while obesity prevalence decreases; subcutaneous ossifications seem specific for this group. Brachydactyly has been detected in half of the subjects with epigenetic alterations, in which the disease overts later in life, often with symptomatic hypocalcaemia, and also early TSH and GHRH resistances have been recorded. Conclusions: A dedicated healthcare pathway addressing all these aspects in a systematic way would improve the clinical management, allowing an earlier recognition of some PHP features, the optimization of their medical treatment and a better clinical-oriented molecular analysis. Furthermore, standardized follow-up data would provide new insight into less known aspects. [ABSTRACT FROM AUTHOR]

Background: To date, there is no agreement about the frequency or the features of thyroid abnormalities in McCune-Albright syndrome (MAS). The aim of our study was to detect thyroid abnormalities in a cohort of MAS children and adolescents and to give indications for their treatment and follow-up. Methods: In 36 patients, 22 females and 14 males, thyroid function and sonographic features of thyroid were evaluated every 6-12 months. Results: Three males and 1 female had hyperthyroidism: 2 with nodular, 2 with diffuse goiters. They were treated with methimazole (0.2-0.5 mg/kg/day) with good clinical and biochemical responses. The remaining 32 patients were euthyroid, even if 7 displayed sonographic alterations, of whom 5 had nodular goiter with nodules >1 cm, and 2 micronodular goiter. Fine-needle aspiration biopsy was performed in 2 patients with nodules >1 cm, 1 showing hemorrhagic nodule and 1 colloid cystic nodule. Conclusions: Prevalence of thyroid alterations in the studied MAS series was 31%. 64% of 11 patients with thyroid alterations had nodular goiters, with nodules >1 cm. As the onset of thyroid disease ranged from 1 to 20 years, a strict monitoring of thyroid function is recommended every 6 months. Satisfactory treatment can be obtained and maintained with antithyroid drugs. Copyright © 2012 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The pathogenesis of gastro-oesophageal reflux disease (GORD) is complex and multifactorial. A motility disorder resulting from immaturity of the gastro-oesophageal tract may be involved. We have combined multichannel intraluminal impedance (MII) and pH monitoring with epigastric impedance (EGI) to evaluate the activity of this tract in neonates with suspected GORD. Multichannel intraluminal impedance, pH and EGI were followed for 3 h in 30 newborns displaying apparent life-threatening events and signs of GORD. Simultaneous application of MII and pH monitoring identifies reflux episodes and illustrates their duration, height and pH. Episodes detected by MII were placed on the EGI curve and the contemporaneous gastric filling state and emptying velocity were calculated. During the total measuring time, 248 reflux episodes were revealed. An inverse correlation was evident for reflux frequency and gastric emptying velocity (r2 = 0.94; P < 0.001), and between acid refluxes and the gastric filling state (r2 = 0.95; P < 0.001), whereas a positive correlation was found between the reflux level and the gastric filling state (r2 = 0.52; P < 0.05). Simultaneous MII, pH and EGI monitoring provided new information on the relationship between refluxes and gastric activity. Data suggest that gastric emptying patterns influence the frequency, level and pH of reflux episodes. [ABSTRACT FROM AUTHOR]

Objective: To clarify the genotype-phenotype correlation and elucidate the role of digenic inheritance in cystinuria. Methods: 164 probands from the International Cystinuria Consortium were screened for mutations in SLC3A1 (type A) and SLC7A9 (type B) and classified on the basis of urine excretion of cystine and dibasic amino acids by obligate heterozygotes into 37 type I (silent heterozygotes), 46 type non-I (hyperexcretor heterozygotes), 14 mixed, and 67 untyped probands. Results: Mutations were identified in 97% of the probands, representing 282 alleles (86.8%). Forty new mutations were identified: 24 in SLC3A1 and 16 in SLC7A9. Type A heterozygotes showed phenotype I, but mutation DupE5-E9 showed phenotype non-I in some heterozygotes. Type B heterozygotes showed phenotype non-I, with the exception of 10 type B mutations which showed phenotype I in some heterozygotes. Thus most type I probands carried type A mutations and all type non-I probands carried type B mutations. Types B and A mutations contributed to mixed type, BB being the most representative genotype. Two mixed cystinuria families transmitted mutations in both genes: double compound heterozygotes (type AB) had greater aminoaciduria than single heterozygotes in their family. Conclusions: Digenic inheritance is an exception (two of 164 families), with a limited contribution to the aminoaciduria values (partial phenotype) in cystinuria. Further mutational analysis could focus on one of the two genes (SLC3A1 preferentially for type I and SLC7A9 for type non-I probands), while for mixed probands analysis of both genes might be required, with priority given to SLC7A9. [ABSTRACT FROM AUTHOR]

Derrida et al. and Schütz and Stinchcombe gave algebraic formulas for the correlation functions of the partially asymmetric simple exclusion process. Here we give a fairly general recipe of how to get these formulas and extend them to the whole time evolution (starting from the generator of the process), for a certain class of interacting systems. We then analyze the algebraic relations obtained to show that the matrix approach does not work with some models such as the voter and the contact processes. [ABSTRACT FROM AUTHOR]

Background: X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms are mainly related to rickets in children and osteomalacia in adults and cause several complications that can be highly invalidating. Due to its rarity, XLH is poorly known and diagnosis is frequently delayed. Conventional treatment is based on oral phosphate salts supplementation and activated vitamin D analogs, which however, cannot cure the disease in most cases. Objective: Due to the low prevalence of XLH, an experts' opinion survey was conducted across Italian centers to collect data on XLH and on its management. Methods: A questionnaire was developed by a group of experts to collect data on XLH epidemiology, diagnosis and treatment in Italy. Results: Data from 10 Italian centers (nine of which pediatric) on 175 patients, followed between 1998 and 2017, were included in the survey. Most patients were followed since childhood and 63 children became adults during the investigated period. The diagnosis was made before the age of 1 and between 1 and 5 years in 11 and 50% of cases, respectively. Clinically apparent bone deformities were present in 95% of patients. These were ranked moderate/severe in 75% of subjects and caused growth stunting in 67% of patients. Other frequent complications included bone pain (40%), dental abscesses (33%), and dental malpositions (53%). Treatment protocols varied substantially among centers. Nephrocalcinosis was observed in 34% of patients. Tertiary hyperparathyroidism developed in 6% of patients. Conclusions: XLH remains a severe condition with significant morbidities. [ABSTRACT FROM AUTHOR]