X-ray Tail in NGC 7619

We present new observational results of NGC 7619, an elliptical galaxy with a prominent X-ray tail and a dominant member of the Pegasus group. With Chandra and XMM-Newton observations, we confirm the presence of a long X-ray tail in the SW direction; moreover, we identify for the first time a sharp discontinuity of the X-ray surface brightness in the opposite (NE) side of the galaxy. The density, temperature and pressure jump at the NE discontinuity suggest a Mach number ~1, corresponding to a galaxy velocity of ~500 km s-1, relative to the surrounding hot gas. Spectral analysis of these data shows that the Iron abundance of the hot gaseous medium is much higher (1-2 solar) near the center of NGC 7619 and in the tail extending from the core than in the surrounding regions (< 1/2 solar), indicating that the gas in the tail is originated from the galaxy. The possible origin of the head-tail structure is either on-going ram-pressure stripping or sloshing. The morphology of the structure is more in line with a ram pressure stripping phenomenon, while the position of NGC 7619 at the center of the Pegasus I group, and its dominance, would prefer sloshing.Comment: ApJ accepted to appear in the 2008 December 1 issue; Added discussion on sloshin

Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience

The molecular characterization of Hereditary Spastic Paraplegias (HSP) and inherited cerebellar ataxias (CA) is challenged by their clinical and molecular heterogeneity. The recent application of Next Generation Sequencing (NGS) technologies is increasing the diagnostic rate, which can be influenced by patients\u2019 selection. To assess if a clinical diagnosis of CA/HSP received in a third-level reference center might impact the molecular diagnostic yield, we retrospectively evaluated the molecular diagnostic rate reached in our center on 192 unrelated families (90 HSP and 102 CA) (i) before NGS and (ii) with the use of NGS gene panels. Overall, 46.3% of families received a genetic diagnosis by first-tier individual gene screening: 43.3% HSP and 50% spinocerebellar ataxias (SCA). The diagnostic rate was 56.7% in AD-HSP, 55.5% in AR-HSP, and 21.2% in sporadic HSP. On the other hand, 75% AD-, 52% AR- and 33% sporadic CA were diagnosed. So far, 32 patients (24 CA and 8 HSP) were further assessed by NGS gene panels, and 34.4% were diagnosed, including 29.2% CA and 50% HSP patients. Eleven novel gene variants classified as (likely) pathogenic were identified. Our results support the role of experienced clinicians in the diagnostic assessment and the clinical research of CA and HSP even in the next generation era

3500 Years of Shellfish Mariculture on the Northwest Coast of North America

Ancient systems of mariculture were foundations of social-ecological systems of many coastal Indigenous Peoples. However, since such systems either do not leave tangible remains in the archaeological record, and/or are hard to date, we know little about their development and use. Clam gardens, traditional mariculture features located within the intertidal zone along the Northwest Coast of North America, are composed of a rock wall positioned at the low tide mark and a flattened terrace on the landward side of the wall. Because these features are largely composed of rock and sediment, and have complex formation histories, they can be difficult to age. On northern Quadra Island, British Columbia, we identify three variations in clam garden form, constructed in different geomorphological settings, each of which require different sampling approaches to obtain ages on construction and ongoing use. To age the clam gardens, we consider radiocarbon dating of invertebrates that inhabit beach deposits (both pre- and post-garden construction), and the relationship of the gardens and clam samples to the local sea level history and taphonomic processes. Within our study area, we find clam gardens have been in use for 3500 years, likely corresponding to other social and ecological changes of the time. These data allow us to formulate guidelines on samples most suitable to constrain the age of initial and on-going wall construction and use of clam gardens, which can be extrapolated to dating other ancient mariculture features in other regions. Such dating programs are the foundation for understanding the long-term development of traditional marine management practices and how they are situated in broader social-ecological systems

Investigation of the human pineal gland 3D organization by X-ray phase contrast tomography

Pineal gland (PG) is a part of the human brain epithalamus that plays an important role in sleep, circadian rhythm, immunity, and reproduction. The calcium deposits and lesions in PG interfere with normal function of the organ and can be associated with different health disorders including serious neurological diseases. At the moment, the detailed mechanisms of PG calcifications and PG lesions formation as well as their involvement in pathological processes are not fully understood. The deep and comprehensive study of the structure of the uncut human PG with histological details, poses a stiff challenge to most imaging techniques, due to low spatial resolution, low visibility or to exceedingly aggressive sample preparation. Here, we investigate the whole uncut and unstained human post-mortem PGs by X-ray phase contrast tomography (XPCT). XPCT is an advanced 3D imaging technique, that permits to study of both soft and calcified tissue of a sample at different scales: from the whole organ to cell structure. In our research we simultaneously resolved 3D structure of parenchyma, vascular network and calcifications. Moreover, we distinguished structural details of intact and degenerated PG tissue. We discriminated calcifications with different structure, pinealocytes nuclei and the glial cells processes. All results were validated by histology. Our research clear demonstrated that XPCT is a potential tool for the high resolution 3D imaging of PG morphological features. This technique opens a new perspective to investigate PG dysfunction and understand the mechanisms of onset and progression of diseases involving the pineal gland

Primary growth hormone insensitivity (Laron syndrome) and acquired hypothyroidism: a case report

<p>Abstract</p> <p>Introduction</p> <p>Primary growth hormone resistance or growth hormone insensitivity syndrome, also known as Laron syndrome, is a hereditary disease caused by deletions or different types of mutations in the growth hormone receptor gene or by post-receptor defects. This disorder is characterized by a clinical appearance of severe growth hormone deficiency with high levels of circulating growth hormone in contrast to low serum insulin-like growth factor 1 values.</p> <p>Case presentation</p> <p>We report the case of a 15-year-old Caucasian girl who was diagnosed with Silver-Russell syndrome at the age of four and a half years. Recombinant growth hormone was administered for 18 months without an appropriate increase in growth velocity. At the age of seven years, her serum growth hormone levels were high, and an insulin-like growth factor 1 generation test did not increase insulin-like growth factor 1 levels (baseline insulin-like growth factor 1 levels, 52 μg/L; reference range, 75 μg/L to 365 μg/L; and peak, 76 μg/L and 50 μg/L after 12 and 84 hours, respectively, from baseline). The genetic analysis showed that the patient was homozygous for the R217X mutation in the growth hormone receptor gene, which is characteristic of Laron syndrome. On the basis of these results, the diagnosis of primary growth hormone insensitivity syndrome was made, and recombinant insulin-like growth factor 1 therapy was initiated. The patient's treatment was well tolerated, but unexplained central hypothyroidism occurred at the age of 12.9 years. At the age of 15 years, when the patient's sexual development was almost completed and her menstrual cycle occurred irregularly, her height was 129.8 cm, which is 4.71 standard deviations below the median for normal girls her age.</p> <p>Conclusion</p> <p>The most important functional tests for the diagnosis of growth hormone insensitivity are the insulin-like growth factor 1 generation test and genetic analysis. Currently, the only effective treatment is daily administration of recombinant insulin-like growth factor 1 starting from early childhood. However, these patients show a dramatically impaired final height. In our case, unexplained central hypothyroidism occurred during treatment.</p

A Multiwavelength Study of Stephan's Quintet

Stephan's Quintet (SQ) is a compact group that we find in an atypical moment when a high velocity intruder is passing through it. The intrusion is particularly interesting because a previous intruder had stripped most of the gas from the group members. This debris field was shocked in the ongoing collision with the new intruder. This evolutionary history agrees well with observations and explains how a strongly interacting system can show low levels of star formation. We present new multiwavelength data including previously unpublished ROSAT X-ray, Ha interference filter/FP, ISO MIR/FIR and radio line and continuum images. These observations and previously published data provide new insights as well as support for some previous hypotheses. 1) FP and HI velocities allow us to unambiguously distinguish between gas associated with SQ and the new intruder. 2) Most detected emission regions are found in the remnant ISM of the NI which allows us to infer its size and present physical state. 3) The few emission regions associated with the stripped ISM of SQ include the best candidate tidal dwarf galaxy. 4) Multiwavelength data suggest that strong MIR/FIR emission from the Seyfert 2 nucleus of NGC7319 comes from dust heated directly by a power-law continuum rather than a starburst. 5) The correspondance between extended X-ray/radio continuum/forbidden optical emission confirms the existence of a large scale shock in SQ.Comment: In press in AJ. 44 pages, 10 Postscript figures, uses aastex.st

Allergic proctocolitis refractory to maternal hypoallergenic diet in exclusively breast-fed infants: a clinical observation

<p>Abstract</p> <p>Background</p> <p>Allergic proctocolitis (APC) in exclusively breast-fed infants is caused by food proteins, deriving from maternal diet, transferred through lactation. In most cases a maternal cow milk-free diet leads to a prompt resolution of rectal bleeding, while in some patients a multiple food allergy can occur. The aim of this study was to assess whether the atopy patch test (APT) could be helpful to identify this subgroup of patients requiring to discontinue breast-feeding due to polisensitization. Additionally, we assessed the efficacy of an amino acid-based formula (AAF) when multiple food allergy is suspected. amino acid-based formula</p> <p>Methods</p> <p>We have prospectively enrolled 14 exclusively breast-fed infants with APC refractory to maternal allergen avoidance. The diagnosis was confirmed by endoscopy with biopsies. Skin prick tests and serum specific IgE for common foods, together with APTs for common foods plus breast milk, were performed. After a 1 month therapy of an AAF all patients underwent a follow-up rectosigmoidoscopy.</p> <p>Results</p> <p>Prick tests and serum specific IgE were negative. APTs were positive in 100% infants, with a multiple positivity in 50%. Sensitization was found for breast milk in 100%, cow's milk (50%), soy (28%), egg (21%), rice (14%), wheat (7%). Follow-up rectosigmoidoscopy confirmed the remission of APC in all infants.</p> <p>Conclusions</p> <p>These data suggest that APT might become a useful tool to identify subgroups of infants with multiple gastrointestinal food allergy involving a delayed immunogenic mechanism, with the aim to avoid unnecessary maternal dietary restrictions before discontinuing breast-feeding.</p

Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity

Genomic analysis of longevity offers the potential to illuminate the biology of human aging. Here, using genome-wide association meta-analysis of 606,059 parents' survival, we discover two regions associated with longevity (HLA-DQA1/DRB1 and LPA). We also validate previous suggestions that APOE, CHRNA3/5, CDKN2A/B, SH2B3 and FOXO3A influence longevity. Next we show that giving up smoking, educational attainment, openness to new experience and high-density lipoprotein (HDL) cholesterol levels are most positively genetically correlated with lifespan while susceptibility to coronary artery disease (CAD), cigarettes smoked per day, lung cancer, insulin resistance and body fat are most negatively correlated. We suggest that the effect of education on lifespan is principally mediated through smoking while the effect of obesity appears to act via CAD. Using instrumental variables, we suggest that an increase of one body mass index unit reduces lifespan by 7 months while 1 year of education adds 11 months to expected lifespan