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DiGeorge syndrome has heterogeneous clinical presentation, and for this reason, its diagnosis can be challenging and may be missed. Since CHDs are very common in this patients, they can be considered pillars of clinical diagnosis of the syndrome. Therefore, accurate echocardiography is needed to detect even minor cardiac anomalies, as some specific malformation like crossed pulmonary arteries can be associated with 22q11 syndrome. We report two cases of newborns where the diagnosis of DiGeorge syndrome was suspected after finding crossed pulmonary arteries on echocardiography. In order to reach a timely diagnosis of DiGeorge syndrome, we suggest a careful echocardiographic examination of the pulmonary arteries position in all patients and genetic analysis for 22q11.2 microdeletion in patients in whom malposition has been detected.

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme deficiencies required for cortisol biosynthesis in the adrenal cortex. The majority of CAH are due to the deficiency of the 21-hydroxylase enzyme, while 3β-hydroxysteroid dehydrogenase type 2 deficiency accounts for less than five percent of all CAH cases. We report two Moroccan twins from a spontaneous triplet pregnancy. The 46,XY newborn exhibited a disorder of sexual differentiation (DSD) with hypo virilization, while the 46,XX newborn had normal female external genitalia. In the first week of life, they showed hyponatremia and primary adrenal insufficiency with a slight 17OHP elevation and increased DHEAS and renin levels. The aCGH-SNP analysis disclosed a 8.36 Mb long contiguous stretch of homozygosity (LCSH) on chromosome 1p13.2-p11.2 including the candidate HSD3B2 gene, a LCSH of 7.3 Mb on 14q31.1-q32.11, and a 7 Mb duplication on 10q22.3-q23.2. Clinical exome sequencing revealed the biallelic c.969T > G (p.Asn323Lys) HSD3B2, likely pathogenic, variant in both of the affected twins. This case emphasizes the importance of a prompt molecular diagnosis performed through the combination of aCGH and clinical exome, both for establishment of correct therapy and for follow-up, as the newborns also carry a genomic rearrangement with possible clinical implications.

Background SHOX enhancer CNVs, affecting one or more of the seven recognized evolutionary conserved non‐coding elements (CNEs) represent one of the most frequent cause of SHOX‐haploinsufficiency. During the diagnostic workflow deletions/duplications have been identified downstream SHOX not including any of the these CNEs. Methods Fine tiling aCGH and breakpoint PCR were used to characterize the critical interval and to search for novel alterations in a cohort of selected patients. Results Screening of 252 controls provided evidence that duplications in this area represent likely benign variants whereas none of the deletions were detected. These findings suggested that other alterations relevant for SHOX‐haploinsufficiency might be missed by the standard diagnostic methods. To identify such undisclosed elements, the aCGH was used to reanalyze 52 unresolved cases with clinical features strongly suggestive of SHOX‐haploinsufficiency. This analysis followed by the screening of 210 patients detected two partially overlapping small deletions of ~12 and ~8 kb in four unrelated individuals, approximately 15 kb downstream SHOX, that were absent in 720 normal stature individuals. Conclusion Our results strengthen the hypothesis that alterations of yet unidentified cis‐regulatory elements residing outside those investigated through conventional methods, might explain the phenotype in ISS/LWD patients thus enlarging the spectrum of variants contributing to SHOX‐haploinsufficiency., The characterization of deletions identified in Short Staure patients through fine tiling aCGH narrowed down a critical interval downstream the enhancer that might contains elements relevant for SHOX expression. To identify undisclosed

Objective Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features. Design Retrospective analysis of the Italian data set of patients with TNDM. Methods Clinical features and treatment of 22 KATP/TNDM patients and 12 6q24/TNDM patients were compared. Results Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; −2.27 SD) than those with KATP mutations (4.0 weeks; −1.04 SD) (P = 0.009 and P = 0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 weeks vs 12 weeks) (P = 0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy. Conclusions If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.

The Hiden pQA portable gas analyzer is a versatile mass spectrometer suitable for broad application ranges where analysis of dissolved species in liquid samples is required. The system's gas analysis breakthrough features are its ability to handle small sample volumes and in environmental applications where detection of low concentration levels is required. In this article, the system's instrumental characteristics and a few high-impact applications are described.

Ignition in low temperature combustion engines is governed by a coupling between low-temperature oxidation kinetics and diffusive transport. Therefore, a detailed understanding of the coupled effects of heat release, low-temperature oxidation chemistry, and molecular transport in cool flames is imperative to the advancement of new combustion concepts. This study provides an understanding of the low temperature cool flame behavior of butane isomers in the counterflow configuration through the addition of ozone. The initiation and extinction limits of butane isomers’ cool flames have been investigated under a variety of strain rates. Results revealed that, with ozone addition, establishment of butane cool diffusion flames was successful at low and moderate strain rates. iso-Butane has lower reactivity than n-butane, as shown by higher fuel mole fractions needed for cool flame initiation and lower extinction strain rate limits. Ozone addition showed a significant influence on the initiation and sustenance of cool diffusion flames; as ozone-less cool diffusion flame of butane isomers could not be established even at high fuel mole fractions. The structure of a stable n-butane cool diffusion flame was qualitatively examined using a time of flight mass spectrometer. Numerical simulations were performed using a detailed chemical kinetic model and molecular transport to simulate the extinction limits of the cool diffusion flames of the tested fuels. The model qualitatively captured experimental trends for both fuels and ozone levels, but over-predicted extinction limits of the flames. Reactions involving low-temperature species predominantly govern extinction limits of cool flames. The simulations were used to understand the effects of methyl branching on the behavior of n-butane and iso-butane cool diffusion flames.

Recent developments in the chemistry of homo- and heterometallic clusters of Iron, Cobalt and Nickel triads substituted with alkynes and related ligands are examined. New synthetic procedures, bonding modes and structural arrangements have been found. The old and recent applications of these clusters are discussed.

The industrial processes of starch cationization are widely used and the workers must protect their health from the potential presence of toxic species, such as 2,3-epoxypropyltrimethylammonium chloride (ETA or Quab 151®) or 3-chloro-2-hydroxypropyltrimethylammonium chloride (CTA or Quab 188®) used during the industrial processes. In this study, a sensitive and fast chromatographic method for the identification and determination of these toxic species in samples placed in fixed air sampling positions near to the reactor of starch processing has been developed and fully validated. The method is based on hydrophilic interaction liquid chromatography coupled to tandem mass spectrometry detection. The limits of detection are 3.0 ng mL−1 and 1.0 ng mL−1 for ETA and CTA, respectively, and the RSD% of the intraday (n = 5) and the interday (n = 35) precision of concentration determination are lower than 3.4% and 6.1%, respectively. The solid–liquid extraction procedure employed here is very simple (sonication) and fast (5 min) and allows obtaining reliable recovery values greater than 91.0%. No evidence of statistically significant matrix effects (at a 95% of confidence level) during the mass spectrometry analysis has been found. The method has been successfully applied to filter samples used in routine controls for the safety of workers involved in these type of industrial processes.

The ageing of population is a phenomenon that is affecting the majority of developed countries around the world and will soon affect developing economies too. In recent years, both industry and academia are focused on the development of several solutions aimed to guarantee a healthy and safe lifestyle to the elderly. In this context, the behavioral analysis of elderly people can help to prevent the occurrence of Mild Cognitive Impairment (MCI) and frailty problems. The innovative technologies enabling the Internet of Things (IoT) can be used in order to capture personal data for automatically recognizing changes in elderly people behavior in an unobtrusive, low-cost and low-power modality. This work aims to describe the ongoing activities within the City4Age project, funded by the Horizon 2020 Programme of the European Commission, mainly focused on the use of IoT technologies to develop an innovative AAL system able to capture personal data of elderly people in their home and city environments. The proposed architecture has been validated through a proof-of-concept focused mainly on localization issues, collection of ambient parameters, and user-environment interaction aspects.

The reactions of the complexes Fe3(CO)12, H2FeRu3(CO)13, H2Ru4(CO)13 and CpNiRu3(H)3(CO)9 with 2(diphenylphosphino)ethyl-triethoxysilane give considerable yields of the complexes Fe3(CO)10L2 (1), H2FeRu3(CO)10L2 (2), Ru4(CO)10L3 (3) and CpNiRu3(H)3(CO)7L2 (4) where L = Ph2PCH2CH2Si(OEt)3. The complexes (1–3) have been characterized by analytical and spectroscopic techniques. The structure of (4) has been determined by X-ray analysis. The presence of a phosphine containing the –Si(OEt)3 group has been exploited for grafting complexes (3) and (4) on the mesoporous SBA-15 and the resulting inorganic–organometallic materials have been characterized by means of ICP-MS, FT-IR, DR-UV–vis spectroscopy, XRD and textural analysis.

Background: Bone marrow transplantation (BMT) is associated with bone morbidity. We investigated bone status with quantitative ultrasound (QUS) in pediatric patients with hematological diseases prior to and up to 3 yr following BMT. Methods: Phalangeal QUS measures for amplitude-dependent speed of sound (Ad-SoS) and bone transmission time (BTT) were obtained in 40 hematological patients (25 with malignant, 15 with non-malignant disease; 9.7±4.9 yr) before BMT and 6, 12, 24, and 36 months after BMT. Bone parameters were expressed as Z-scores based on age-sex-matched normal controls. Results: Mean Ad-SoS and BTT Z-scores were normal before BMT and reduced at 36 months (analysis of variance: p=0.0542 and p=0.0233). Ad-SoS and BTT Z-scores remained relatively stable in the first 6 months after BMT and then progressively decreased reaching a plateau at 12–36 months. In non-malignant patients, BTT Z-score decreased at 6–12 months (p=0.029) and subsequently increased, while in malignant patients BTT Z-score showed a decrease at 12–24 months. Pre-pubertal subjects displayed a drop of BTT Z-Score values at both 12 (p=0.023) and 36 months after BMT (p=0.049), while BTT Z-score remained relatively unchanged in pubertal subjects. Early impairment of BTT Z-score was found in patients who suffered acute graft versus host disease (GVHD) compared to patients without this clinical condition; BTT Z-score was lower at 36 months (p=0.045). Conclusions: Longitudinal assessment by QUS of pediatric BMT survivors evidenced that bone status is mildly affected up to 36 months after BMT, mainly in malignant patients, in pre-pubertal subjects at BMT and in patients who suffered acute GVHD.

The complex Co2(CO)6[μ-η2-(H3CC CCH2CH2OH)] (1) with the ligand 3-pentyn-1-ol (pol) has been synthesized following established procedures. Its structure has been determined by X-ray analysis. The complex Co2(CO)6(mbo) (mbo = 2-methyl-3-butyn-2-ol, HC CC(CH3)2OH), (3), along with the already known Co2(CO)6(bud) (bud = 1,4-butyn-diol, HOCH2C CCH2OH) (2), and Co2(CO)8 were reacted with 2(diphenylphosphino)ethyl-triethoxysilane [Ph2PCH2CH2Si(OCH2CH3)3] (dpts) and tris(hydroxymethyl)phosphine [P(CH2OH)3] (thp). With dpts, mono- and di-substituted complexes were obtained: these were characterized by analytical and spectroscopic techniques. The structures of Co2(CO)6(dpts)2 (5) and of Co2(CO)4(pol)(dpts)2 (8) have been determined by X-ray analysis. Complex (1) was reacted with 3-(triethoxysilyl)propyl isocyanate [(H3CCH2O)3Si(CH2)3NCO] (tsi): the new complex Co2(CO)6[H3CC CCH2CH2OC( O)NH(CH2)3Si(OCH2CH3)3] (9) was obtained and spectroscopically characterized. The complex has also been reacted with tetraethyl orthosilicate (teos); a new inorganic–organometallic material was obtained. Complex (5) has been grafted on the mesoporous material SBA-15. The hybrid inorganic–organometallic materials obtained have been characterized by inductively coupled plasma-mass spectrometry (ICP-MS), infrared spectroscopy (FT-IR) under vacuum conditions, X-ray diffraction (XRD) and scanning electron microscopy coupled to EDS probe (SEM–EDS).

Few studies have addressed the diagnostic role of the glucagon test in children with suspected GH deficiency (GHD).The objective of the study was to investigate the diagnostic value of the glucagon test as an alternative test to insulin tolerance test (ITT) and arginine in GHD children younger than 6 yr.This study was conducted in two pediatric endocrinology centers.Forty-eight children (median age 4.2 yr, median height -3.0 sd score) with GHD confirmed by a peak GH to ITT and arginine less than 10 microg/liter (median 4.7 and 3.4 microg/liter, respectively) underwent a glucagon stimulation test. Magnetic resonance imaging showed normal hypothalamic-pituitary anatomy in 24 children, isolated anterior pituitary hypoplasia in seven, and structural hypothalamic-pituitary abnormalities in 17.Median GH peak response to glucagon (13.5 microg/liter) was significantly higher than that observed after ITT and arginine (P0.0001). GH peak after glucagon was less than 10 microg/liter in 20 subjects (group 1) and greater than 10 microg/liter in 28 subjects (group 2) without significant clinical or biochemical differences between the two groups. Median GH peak after glucagon was similar between patients with multiple pituitary hormone deficiency and those with isolated GHD and between subjects with and without structural hypothalamic-pituitary abnormalities. The magnitude of the GH peak after glucagon was negatively correlated to age at diagnosis (rho = -0.636, P0.0001).This study shows that glucagon has an effective GH-releasing activity and can be used to evaluate somatotroph function in young children with short stature. Normative data for this test in young children need to be established before its use in clinical practice.

The reaction of Ru3(CO)12 with 2(diphenylphosphino)ethyl-triethoxysilane (DPTS) in hydrocarbons, leads to the functionalized Ru3(CO)12−n [Ph2P(CH2)2Si(OEt3)] n (n = 1,2) complexes. The complex with two phosphine substituents was chemically anchored on mesoporous silicas, SBA-15 and MCM-41, in order to obtain two hybrid materials characterized by a different localization of the metal centre on the surface of the porous supports. A detailed investigation of the cluster, before and after chemical anchoring on the mesoporous silicas, was pursued. Particular attention was also devoted to the study of the morphological, structural and textural properties of the metal-functionalised silicas (Ru/SBA-15 and Ru/MCM-41) by infrared spectroscopy (FT-IR), scanning electron microscopy, X-ray diffraction and N2 physisorption analysis.

The reactions of Fe3(CO)12 with 2-methyl-3-butyn-2-ol and 3-pentyn-1-ol in CH3OH/KOH solution lead, respectively, to the binuclear complex Fe2(CO)6(μ-CO)(μ-η2-[HCC{ C(CH3)2}C( O)(OCH3)]) (as the main product) and to the closed trinuclear hydridic complex (μ-H)Fe3(CO)9(μ3-η3-[H3CCC(CH2)(CH2)CO]) (as the unique product). The oxygenated ligands of these complexes are formed, respectively, by coupling of a formerly coordinated CO with a methoxy group and by coupling of a formerly coordinated CO with a deoxygenated alkynic residual.

The thermal reactions of 2-methyl-1-hexen-3-yne [CH3CH2C≡CC(=CH2)CH3, metey] with Fe3(CO)12 have been studied: cluster opening or fragmentation and alkyne dimerization occur. Main products are the open triangular isomers [Fe3(CO)6(μ-CO)2{CH3(=CH2)CC(Et)C(Et)C(=CH2)CH3}] (complex 3a) and [Fe3(CO)6(μ-CO)2{C(Et)CCH3(=CH2)C(Et)CCH3(=CH2)}] (complex 3b). The structure and isomerism of the complexes has been confirmed by X-ray studies. The minor products of the reaction have been characterized by spectroscopic techniques. An attempt at exploiting the reactivity of the “free” C=C bonds of the coordinated ene-yne was made: complex 3a was reacted with styrene under thermal conditions. Unexpectedly considerable yields of the closed triangular cluster [Fe3(CO)6{EtC2C(=CH2)CH3}2] (complex 5) have been obtained. This behaviour had not been previously observed. The unprecedented structure of complex 5 has been confirmed with an X-ray study.

In last few years, the number of elderly people is more and more increasing. Consequently, various efforts were made in order to improve the quality of lifestyle for the elderly. Related to this issue, an Ambient Assisted Living (AAL) works to create better living conditions for older or disable people. AAL systems are able to continuously monitor the health status of the elderly through data coming from heterogeneous sensors. In this paper, we propose an AAL architecture for the monitoring of elderly people, able to guarantee the collection of heterogeneous sensor data as well as the detection of critical events such as the older adult fall. A remote reasoning system processes this data with the aim of generating appropriate events. In order to demonstrate the feasibility of the proposed architecture, a proof of concept was used and validation functional tests were carried out.

Buildings energy efficiency plays a key role in terms of reducing energy consumption and improving the internal comfort. For this purpose, European standards regulate the use of different insulation systems, applied to the internal or external building envelope. However, different studies demonstrate that considerable thicknesses of insulation layers are inappropriate in our Mediterranean climates. This paper presents an innovative dynamic ventilated insulation system able to overcome condensation and overheating phenomena, also exploiting Internet of Things (IoT) technologies. This system, called S-MUnSTa, is a ventilated external layer equipped with valves of insulating material, for opening (in summer) and closing (in winter) the air channel, with the aim to optimize the thermal performance. Moreover, in order to control and manage the valves, a wireless controller system based on IoT technologies has been adopted. The proposed solution, exploiting a photovoltaic system as power source, has been also compared with a wired one alternative. The combination of building and IoT technologies develops an innovative system with several advantages, such as: the improvement of internal comfort and energy saving during the whole year controlled with a wireless system, the ease of installation and the versatile use in walls and roofs in every building typology.

The title complex is the main product of the reaction of Fe3(CO)12 with isopropenylacetylene in basic methanolic solution (followed by acidification); it is obtained upon carbon–carbon bond forming and dimerization of the alkyne. The same complex is also obtained by reacting Fe3(CO)12 in CH3OH/KOH solution with 2-methyl-hex-1-en-3-yne; carbon–carbon bond cleavage presumably occurs to form isopropenylacetylene, which then reacts with the iron carbonyl. The unprecedented structure of the complex has been determined with a X-ray diffraction analysis.

Context: The current criteria for definition of partial GHD in young adults are still a subject of debate. Objectives: The objective of the study was to reinvestigate anterior pituitary function in young adults with congenital childhood-onset GHD associated with structural hypothalamic-pituitary abnormalities and normal GH response at the time of first reassessment of GH secretion. Design and Setting: This was a prospective explorative study conducted in a university research hospital. Patients and Methods: Thirteen subjects with a mean age of 17.2 ± 0.7 yr and a peak GH after insulin tolerance test (ITT) higher than 5 μg/liter were recruited from a cohort of 42 patients with childhood-onset GHD and ectopic posterior pituitary at magnetic resonance imaging. GH secretion after ITT and GHRH plus arginine, IGF-I concentration, and body mass index, waist circumference, blood pressure, total cholesterol, and fibrinogen were evaluated at baseline and at 2-yr follow-up. Results: At mean age of 19.2 ± 0.7 yr, the mean peak GH response decreased significantly after ITT (P = 0.00001) and GHRH plus arginine (P = 0.0001). GH peak values after ITT and GHRH plus arginine were less than 5 and 9 μg/liter in 10 and eight patients, respectively. Additional pituitary defects were documented in eight patients. Significant changes were found in the values of IGF-I sd score (P = 0.0026), waist circumference (P = 0.00001), serum total cholesterol (P = 0.00001), and serum fibrinogen (P = 0.0004). Conclusions: The results of this study underline the importance of further reassessment of pituitary function in young adults with GHD of childhood-onset and poststimulation GH responses suggestive of partial GHD.

Ru3(CO)12 has been reacted with the compounds hex-1-en-3-yne [EtC≡CCH=CH2], 2-methyl-hex-1-en-3-yne [EtC≡CC(=CH2)CH3] and with 3(ethoxy-silyl)propyl isocyanate [(EtO)3Si(CH2)3NCO] and the compound tb [(EtO)3Si(CH2)3NHC(=O)OCH2C≡CCH2OC(=O)NH(CH2)3Si(OEt)3] in hydrocarbon solution. Some reactions in CH3OH/KOH solution (followed by acidification) have also been performed. The main products of the reactions with ene-ynes are the clusters Ru3(CO)6(μ-CO)2L2 (L = C6H8, C7H10) and their demolition products, the “ferrole” Ru2(CO)6L2 complexes. One of the isomers of Ru3(CO)6(μ-CO)2L2, and Ru2(CO)6L2 (L = C7H10) have been reacted with vinyl-triethoxysilane [(EtO)3SiCH=CH2]: these reactions did not afford complexes containing new carbon–carbon bonds or triethoxy-silyl groups. Only polymerization of vinyl-triethoxysilane occurred. The reactions of Ru3(CO)12 with triethoxysilyl-propyl-isocyanate and tb (in the presence of Me3NO) lead to the same products, that is the isomeric complexes (μ-H)Ru3(CO)9[C=N(H)(CH2)3Si(OEt)3] with a “perpendicular” ligand (complex 3, as proposed on the basis of spectroscopic results) and (μ-H)Ru3(CO)9[HC=N(CH2)3Si(OEt)3] with a “parallel” ligand (complex 4, as confirmed by a X-ray analysis). The reaction pathways leading to these products are discussed. Complex 4 has been reacted with tetraethyl orthosilicate and the resulting material has been characterized. These reactions are part of a study on the synthesis of inorganic-organometallic materials through sol–gel techniques.

Co2(CO)8 has been reacted with but-2-yn-1,4-diol (BUD) and the reactivity of the resulting complex Co2(CO)6(HOCH2C≡CCH2OH) (complex 1) is discussed. Complex 1 has been reacted with all the components used in the synthesis of sol-gel materials based on tetraethyl-orthosilicate (TEOS) with the aim at obtaining evidences for the processes occurring during the formation of inorganic-organometallic sol-gel materials containing BUD. Reaction pathways are discussed.

The title compound has been obtained in considerable yield by reacting Ru3(CO)12 with 2-pentynal-diethyl-acetal [CH3CH2C CC(H)(OEt)2] (PDA) in hydrocarbon solvents. The X-ray analysis shows that the title complex belongs to the well known family of the flyover derivatives. Some X-ray structural studies have been reported, many years ago, on di-iron flyover complexes; in contrast only a few examples of diruthenium derivatives have been structurally characterized. The complex contains ethoxy-groups which could potentially undergo hydrolysis in the presence of tetraethyl-orthosilicate (TEOS) in the presence of catalysts. Reactions of complex Ru2(CO)6[μ-η4-{EtC2C(H)(OEt)2}CO{EtC2C(H)(OEt)2}] with TEOS in the presence of HCl or of NaF (as catalysts) have been attempted. An inorganic-organometallic sol-gel material containing the skeleton of the complex has been obtained and characterized with IR-Raman, XRD on powders and SEM microscopy.

The reactions of Fe3(CO)12 with but-2-yn-1,4-diol (BUD), 1,4-dichloro-but-2-yne (DCB), propargyl alcohol (PA) and propargyl chloride (PC) in KOH/CH3OH solutions (followed by acidification with HCl) and under thermal conditions have been examined. The complex Fe2(CO)6{H2CCCCH2} is the main product of the reactions with BUD or DCB in all conditions. The complexes Fe2(CO)6{H2CCC(H)C(OMe)O} and Fe3(CO)10{H2CCC(H)C(O)C{CH2(O)CH3}CCH2} are the main products obtained respectively in the reactions with propargyl chloride (PC) or propargyl alcohol (PA) in basic methanolic solution. The structures of the three complexes have been determined by means of X-ray analysis. Complex Fe2(CO)6{H2CCCCH2} contains a butatrienyl ligand in an uncommon structural arrangement. The formation of complex Fe2(CO)6{H2CCC(H)C(OMe)O} requires CO and methanol activation; its ferrole like structure contains a coordinated acetate group. Complex Fe3(CO)10{H2CCC(H)C(O)C{CH2(O)CH 3}CCH2} contains one Fe(CO)4 and one Fe2(CO)6 fragments linked through a carbon atom chain derived from the insertion of CO and dimerization of propargyl alcohol (with substitution of OCH3 from methanol in the place of OH). Comments on the syntheses and on the reaction pathways leading to the complexes are made.

Objectives: Patients with organic growth hormone deficiency (GHD) or with structural hypothalamic–pituitary abnormalities may have additional anterior pituitary hormone deficits, and are at risk of developing complete or partial corticotropin (ACTH) deficiency. Evaluation of the integrity of the hypothalamic–pituitary–adrenal axis (HPA) is essential in these patients because, although clinically asymptomatic, their HPA cannot appropriately react to stressful stimuli with potentially life-threatening consequences. Design and methods: In this study we evaluated the integrity of the HPA in 24 patients (age 4.2–31 years at the time of the study) with an established diagnosis of GHD and compared the reliability of the insulin tolerance test (ITT), short synacthen test (SST), low-dose SST (LDSST), and corticotropin releasing hormone (CRH) test in the diagnosis of adrenal insufficiency. Results: At a cortisol cut-off for a normal response of 550 nmol/l (20 μg/dl), the response to ITT was subnormal in 11 subjects, 6 with congenital and 5 with acquired GHD. Four patients had overt adrenal insufficiency, with morning cortisol concentrations ranging between 66.2–135.2 nmol/l (2.4–4.9 μg/dl) and typical clinical symptoms and laboratory findings. In all these patients, a subnormal cortisol response to ITT was confirmed by LDSST and by CRH tests. SST failed to identify one of the patients as adrenal insufficient. In the seven asymptomatic patients with a subnormal cortisol response to ITT, the diagnosis of adrenal insufficiency was confirmed in one by LDSST, in none by SST, and in five by CRH tests. The five patients with a normal cortisol response to ITT exhibited a normal response also after LDSST and SST. Only two of them had a normal response after a CRH test. In the seven patients with asymptomatic adrenal insufficiency mean morning cortisol concentration was significantly higher than in the patients with overt adrenal insufficiency. ITT was contraindicated in eight patients, and none of them had clinical symptoms of overt adrenal insufficiency. One of these patients had a subnormal cortisol response to LDSST, SST, and CRH, and three exhibited a subnormal response to CRH but normal responses to LDSST and to SST. Conclusion: We conclude that none of these tests can be considered completely reliable for establishing or excluding the presence of secondary or tertiary adrenal insufficiency. Consequently, clinical judgment remains one of the most important issues for deciding which patients need assessment or re–assessment of adrenal function.

The title complex is obtained by reacting Ru3(CO)12 with 1,4-dichloro-but-2-yne (ClCH2C CCH2Cl, DCB) in CH3OH/KOH solution (followed by acidification with HCl). The X-ray structure analysis shows that (μ-H)2Ru3(CO)9{μ3-η2-[H2C C(H)CCC( O)OCH3]} complex contains a “parallel” ene-yne acetyl substituent, H2C C(H)C CC( O)OCH3; the formation of such a ligand starting from DCB is – to our knowledge – unprecedented. The synthesis of complex (μ-H)2Ru3(CO)9{μ3-η2-[H2C C(H)CCC( O)OCH3]} occurs through the activation of CO and methanol. This process has been found for other reactions of functionalized alkynes with M3(CO)12 carbonyls (M = Fe, Ru) under basic methanolic conditions. The known hydridic cluster, (μ-H)Ru3(CO)9[μ3-η3-(MeCCHCH)] has been identified as the minor reaction product.

The reaction of Ru3(CO)12 with but-2-yn-1,4-diol (HOCH2CCCH2OH, BUD) in CH3OH/KOH followed by acidification with HCl leads to four products, one of which has been identified as the title complex (μ-Cl)Ru3(CO)9[μ3-η4-H2CCC(H)CH2]. This is an open cluster containing a bridging Cl atom on the open side and a C4H5 moiety bound to all the metals. The structure of the complex has been determined by X-ray analysis. The thermal reaction of Ru3(CO)12 with BUD has been revisited for a comparison with the results in alkaline solution. The main product is the allylic derivative HRu3(CO)9[HCCHCCHO].

The title complex (μ-H)Ru3(CO)9(μ3-η3-C3H3) has been obtained following two different reaction pathways: one is the deamination of diethylaminopropyne, HCCCH2NEt2, in the presence of Ru3(CO)12 under thermal conditions. The other is the reaction of trimethylsilylpropargyl alcohol, (HO)H2CCC(SiMe3) (TSPA), with Ru3(CO)12. The complex is obtained both under thermal conditions and in the reaction of the carbonyl with TSPA in CH3OH/KOH (followed by acidification). Other reaction products, deriving from the loss of Me3Si and of HCHO fragments from TSPA, have also been characterized. Complex (μ-H)Ru3(CO)9(μ3-η3-C3H3) has been spectroscopically characterized and its crystal structure was determined by an X-ray analysis. An isosceles triangle of Ru atoms with an edge bridged by an H atom, is coordinated by an allylic moiety σ-bonded to two Ru atoms and π-interacting with the third Ru atom.

Recent developments in the chemistry of homo- and heterometallic clusters of Iron, Cobalt and Nickel triads substituted with alkynes and related ligands are examined. New synthetic procedures, bonding modes and structural arrangements have been found. The old and recent applications of these clusters are discussed.

Evaluating the behavior of mice and rats has substantially contributed to the progress of research in many scientific fields. Researchers commonly observe recorded video of animal behavior and manually record their observations for later analysis, but this approach has several limitations. The authors developed an automated system for tracking and analyzing the behavior of rodents that is based on radio frequency identification (RFID) in an ultra-high-frequency bandwidth. They provide an overview of the system's hardware and software components as well as describe their technique for surgically implanting passive RFID tags in mice. Finally, the authors present the findings of two validation studies to compare the accuracy of the RFID system versus commonly used approaches for evaluating the locomotor activity and object exploration of mice.

ObjectiveControversies exist about posterior pituitary (PP) function in subjects with ectopic PP (EPP) and with cerebral midline defects and/or their co-occurrence. We investigate water and electrolyte disturbances in patients at risk for PP dysfunction.DesignThe study was conducted in a single Pediatric Endocrinology Research Unit.MethodsForty-two subjects with childhood-onset GH deficiency were subdivided into five groups: normal magnetic resonance imaging (n=8, group 1); EPP (n=15, group 2); septo-optic dysplasia (SOD) with normal PP (n=4, group 3); EPP and SOD without (n=7, group 4), and with additional midline brain abnormalities (n=8, group 5). At a mean age of 16.0±1.1 years, they underwent a 120 min i.v. infusion with hypertonic 5% saline and evaluation of plasma osmolality (Posm), arginine vasopressin (AVP), thirst score (in groups 1 and 2), and urinary osmolality were performed.ResultsMean Posm and AVP significantly increased from baseline scores (284.7±4.9 mosm/kg and 0.6±0.2 pmol/l) to 120 min after saline infusion (300.5±8.0 mosm/kg and 10.3±3.3 pmol/l, PPConclusionsPatients with midline brain abnormalities and EPP have defective osmoregulated AVP. Patients with EPP and congenital hypopituitarism have normal PP function.

The triruthenium complexes containing alkynols ligands have been reacted with 2(diphenylphosphino)ethyl-triethoxysilane (dpts), obtaining novel chemically stable disubstituted complexes. The same disubstituted Ru complexes above described were also synthesized following another approach based on the reaction from the phosphine substituted complex Ru3(CO)10(dpts)2 and the same alkynols ligands used to obtain the above triruthenium complexes. One of these stable complexes, the HRu3(CO)7[C≡C(Me)2(OH)](dpts)2 compound was grafted on the mesoporous silica SBA-15 and on γ-Al2O3 surface in order to obtain novel hybrid materials to employ in heterogeneous catalysis. The resulting materials have been characterized by multidisciplinary approach based on inductively coupled plasma-mass spectrometry (ICP-MS), FT-IR, XRD, physisorption measurements and DR-UV–Visible spectroscopy. Novel chemically stable phosphine-substituted ruthenium clusters containing alkynols ligands have been prepared following two different synthetic approaches. One of these complexes have been anchored on SBA-15 and alumina supports, obtaining chemically stable organic/inorganic hybrid materials to employ in heterogeneous catalysis field.

Until the advent of magnetic resonance imaging (MRI), only small advances were made in the field of pituitary imaging. MRI, however, led to an enormous increase in our detailed knowledge of pituitary morphology, thus improving the differential diagnosis of hypopituitarism. Indeed, MRI represents the examination method of choice for evaluating hypothalamic-pituitary-related endocrine diseases thanks to its ability to provide strongly contrasted high-resolution multiplanar and spatial images. Specifically, MRI allows for a detailed and precise anatomical study of the pituitary gland by differentiating between the anterior and posterior pituitary lobes. The MRI identification of pituitary hyperintensity in the posterior part of the sella, now considered a marker of neurohypophyseal functional integrity, has been the most striking finding for the diagnosis and understanding of some forms of “idiopathic” and permanent growth hormone deficiency (GHD). Published data show a number of correlations between pituitary abnormalities as observed on MRI and a patient’s endocrine profile. Indeed, several trends have emerged and have been confirmed: (1) normal MRI or anterior pituitary hypoplasia generally indicates isolated GHD which is transient and not confirmed after adult height achievement; (2) patients with MPHD seldom show a normal pituitary gland; (3) the classic triad of ectopic posterior pituitary gland, pituitary stalk hypoplasia/agenesis, and anterior pituitary gland hypoplasia is more frequently reported in MPHD patients and is generally associated with permanent GHD. Pituitary abnormalities have been reported in patients with GHD carrying mutations in several genes encoding transcription factors such as POU1F1, PROP1, HESX1, LHX3, LHX4, GLI2, PITX1, PITX2, SOX3, SOX2, and OTX2. Establishing endocrine and MRI phenotypes is extremely helpful in the selection and management of patients with hypopituitarism, both in terms of possible genetic counseling, as well as that of early diagnosis of evolving anterior pituitary hormone deficiencies.

The accuracy of the glucagon test in the diagnosis of central adrenal insufficiency in young children has not yet been definitively established.The aim of this study was to investigate the diagnostic accuracy of the glucagon test as an alternative to the insulin tolerance test (ITT) in children with GH deficiency under 6 yr of age.This was a prospective study conducted in two Pediatric Endocrinology Centers.Forty-eight children (median age, 4.2 yr) with GH deficiency confirmed by a peak GH to ITT and arginine less than 10 microg/liter were enrolled: 24 with normal hypothalamic-pituitary anatomy, seven with isolated anterior pituitary hypoplasia, and 17 with structural hypothalamic-pituitary abnormalities at magnetic resonance imaging. Twelve subjects had central adrenal insufficiency defined by a peak cortisol response of less than 20 microg/dl to ITT. All children underwent a glucagon stimulation test with blood sampling for cortisol and glucose (time 0 to 180 min) after the im administration of 30 microg/kg of glucagon.The mean peak cortisol after glucagon was not significantly different from that obtained after ITT in the whole cohort (25.9 vs. 26.0 microg/dl; P = 0.908), and it was significantly reduced in patients with structural hypothalamic-pituitary abnormalities (P0.001). Receiver operating characteristic curve analysis showed that the best diagnostic accuracy was obtained with a peak cortisol cutoff to glucagon of 14.6 microg/dl (sensitivity, 66.67%; specificity, 100%; area under the curve = 0.91; 95% confidence interval, 0.82-0.99). Using this cutoff, 91.67% of the patients were correctly classified.This study shows that glucagon is an accurate and safe diagnostic test for adrenal function in young children who are at risk for adrenal insufficiency.

The 2007 Consensus Statement suggested a peak GH cutoff to insulin tolerance test (ITT) of less than 6 microg/liter in the diagnosis of permanent GH deficiency (GHD) in young adults with childhood-onset GHD (COGHD), although further validation was recommended.The aim of the study was to evaluate the accuracy of ITT, mean 12-h spontaneous nocturnal GH (SNGH), and IGF-I in the definition of permanent GHD.The study was conducted in two Pediatric Endocrinology Centers.ITT, 12-h SNGH, and IGF-I were evaluated as single or combined tests in 79 subjects with COGHD (median age, 18.0 yr). The cohort consisted of 48 subjects with isolated GHD or one additional pituitary defect and normal MRI or anterior pituitary hypoplasia (group LLGHD, low likelihood GHD), and 31 subjects with structural hypothalamic-pituitary abnormalities or multiple pituitary hormone deficiencies (group HLGHD, high likelihood GHD).Receiver operating characteristic analysis showed the best diagnostic accuracy for peak GH cutoffs to ITT of 5.62 microg/liter or less [sensitivity, 77.4%; specificity, 93.8%; area under the curve (AUC) = 0.92], mean 12-h SNGH of 1.20 microg/liter or less (sensitivity, 90.3%; specificity, 89.6%; AUC = 0.93), and IGF-I of -2.83 sd score or less (sensitivity, 80.7%; specificity, 95.7%; AUC = 0.93). Seven patients in group HLGHD showed a peak GH to ITT above 5.62 microg/liter, but a median IGF-I that was significantly lower than that of group LLGHD (-3.30 vs. -0.73 sd score; P = 0.0001). Peak GH to ITT of 3.6 microg/liter or less and arginine of 3.1 microg/liter or less at childhood diagnosis can predict a future permanent GHD condition.The adopted peak GH to ITT below 5.62 microg/liter is an accurate diagnostic cutoff point for HLGHD in young adults with COGHD. In addition, IGF-I is a reliable marker providing information about the severity of GHD. Careful follow-up is required for subjects with discordant ITT and IGF-I results.

While the molecular mechanisms of anterior pituitary development are now better understood than in the past, both in animals and in humans, little is known about the mechanisms regulating posterior pituitary development. The posterior pituitary gland is formed by the evagination of neural tissue from the floor of the third ventricle. It consists of the distal axons of the hypothalamic magnocellular neurones that shape the neurohypophysis. After its downward migration, it is encapsulated together with the ascending ectodermal cells of Rathke's pouch which form the anterior pituitary. By the end of the first trimester, this development is completed and vasopressin and oxytocin can be detected in neurohypophyseal tissue. Abnormal posterior pituitary migration such as the ectopic posterior pituitary lobe appearing at the level of median eminence or along the pituitary stalk have been reported in idiopathic GH deficiency or in subjects with HESX1, LHX4 and SOX3 gene mutations. Another intriguing feature of abnormal posterior pituitary development involves genetic forms of posterior pituitary neurodegeneration that have been reported in autosomal-dominant central diabetes insipidus and Wolfram disease. Defining the phenotype of the posterior pituitary gland can have significant clinical implications for management and counseling, as well as providing considerable insight into normal and abnormal mechanisms of posterior pituitary development in humans.