A hemophagocytic lymphohistiocytosis case with newly defined UNC13D (C.175G>C; p.Ala59Pro) mutation and a rare complication

Hemophagocytic lymphohistiocytosis (HLH) represents a severe hyperinflammatory condition with cardinal symptoms of prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages with impaired function of natural killer cells and cytotoxic T lymphocytes. A 2-month-old girl, who was admitted with fever, was diagnosed with HLH and her genetic examination revealed a newly defined mutation in the UNC13D (c.175G>C; p.Ala59Pro) gene. She was treated with dexamethasone, etoposide, and intrathecal methotrexate. During the second week of treatment, after three doses of etoposide, it was noticed that there was a necrotic plaque lesion on the soft palate. Pathologic examination of debrided material in PAS and Grocott staining revealed lots of septated hyphae, which was consistent with aspergillosis infection. Etoposide was stopped and amphotericin B treatment was given for six weeks. HLH 2004 protocol was completed to eight weeks with cyclosporine A orally. There was no patient with invasive aspergillosis infection as severe as causing palate and nasal septum perforation during HLH therapy. In immuncompromised patients, fungal infections may cause nasal septum perforation and treatment could be achieved by antifungal therapy and debridement of necrotic tissue. © 2015 Turkish Society of Hematology. All rights reserved

Physical mapping integrated with syntenic analysis to characterize the gene space of the long arm of wheat chromosome 1A

Background: Bread wheat (Triticum aestivum L.) is one of the most important crops worldwide and its production faces pressing challenges, the solution of which demands genome information. However, the large, highly repetitive hexaploid wheat genome has been considered intractable to standard sequencing approaches. Therefore the International Wheat Genome Sequencing Consortium (IWGSC) proposes to map and sequence the genome on a chromosome-by-chromosome basis. Methodology/Principal Findings: We have constructed a physical map of the long arm of bread wheat chromosome 1A using chromosome-specific BAC libraries by High Information Content Fingerprinting (HICF). Two alternative methods (FPC and LTC) were used to assemble the fingerprints into a high-resolution physical map of the chromosome arm. A total of 365 molecular markers were added to the map, in addition to 1122 putative unique transcripts that were identified by microarray hybridization. The final map consists of 1180 FPC based or 583 LTC based contigs. Conclusions/Significance: The physical map presented here marks an important step forward in mapping of hexaploid bread wheat. The map is orders of magnitude more detailed than previously available maps of this chromosome, and the assignment of over a thousand putative expressed gene sequences to specific map locations will greatly assist future functional studies. This map will be an essential tool for future sequencing of and positional cloning within chromosome 1A

Application of a new net primary production methodology: a daily to annual-scale data set for the North Sea, derived from autonomous underwater gliders and satellite Earth observation

Shelf seas play a key role in both the global carbon cycle and coastal marine ecosystems through the draw-down and fixing of carbon, as measured through phytoplankton net primary production (NPP). Measuring NPP in situ and extrapolating this to the local, regional, and global scale presents challenges however because of limitations with the techniques utilised (e.g. radiocarbon isotopes), data sparsity, and the inherent biogeochemical heterogeneity of coastal and open-shelf waters. Here, we introduce a new data set generated using a technique based on the synergistic use of in situ glider profiles and satellite Earth observation measurements which can be implemented in a real-time or delayed�mode system (https://doi.org/10.5285/e6974644-2026-0f94-e053-6c86abc00109; Loveday and Smyth, 2022). We apply this system to a fleet of gliders successively deployed over a 19-month time frame in the North Sea, generating an unprecedented fine-scale time series of NPP in the region. At a large scale, this time series gives close agreement with existing satellite-based estimates of NPP for the region and previous in situ estimates. What has not been elucidated before is the high-frequency, small-scale, depth-resolved variability associated with bloom phenology, mesoscale phenomena, and mixed layer dynamics

The impact of ocean biogeochemistry on physics and its consequences for modelling shelf seas

We use modelling and assimilation tools to explore the impact of biogeochemistry on physics in the shelf sea environment, using North-West European Shelf (NWES) as a case study. We demonstrate that such impact is significant: the attenuation of light by biogeochemical substances heats up the upper 20 m of the ocean by up to 1 °C and by a similar margin cools down the ocean within the 20–200 m range of depths. We demonstrate that these changes to sea temperature influence mixing in the upper ocean and feed back into marine biology by influencing the timing of the phytoplankton bloom, as suggested by the critical turbulence hypothesis. We compare different light schemes representing the impact of biogeochemistry on physics, and show that the physics is sensitive to both the spectral resolution of radiances and the represented optically active constituents. We introduce a new development into the research version of the operational model for the NWES, in which we calculate the heat fluxes based on the spectrally resolved attenuation by the simulated biogeochemical tracers, establishing a two-way coupling between biogeochemistry and physics. We demonstrate that in the late spring–summer the two-way coupled model increases heating in the upper oceanic layer compared to the existing model and improves by 1–3 days the timing of the simulated phytoplankton bloom. This improvement is relatively small compared with the existing model bias in bloom timing, but is sufficient to have a visible impact on model skill in the free run. We also validate the skill of the two-way coupling in the context of the weakly coupled physical–biogeochemical assimilation currently used for operational forecasting of the NWES. We show that the change to the skill is negligible for analyses, but it remains to be seen how much it differs for the forecasts

The effects of using garlic extract for quail hatching egg disinfection on hatching results and performance

This experiment was carried out to determine the effects of using garlic extract (Allium sativum) as an alternative to formaldehyde for the disinfection of hatching eggs on hatching traits and growth performance of quails. Four treatments, with 240 hatching eggs each, were evaluated: egg immersion in two different levels (2.5% and 5.0%) of garlic extract (garlic-1, garlic-2), formaldehyde fumigation (positive control), and eggs not submitted to disinfection (negative control). Mid-term and late embryomortality, pipped egg, and culled chick rates were not influenced by the (p>0.05). The highest (p0.05). The results obtained for hatching traits and live performance parameters indicated that the immersion of eggs in garlic extract may be used as an alternative to formaldehyde fumigation for the disinfection of hatching quail eggs. © 2018, Fundacao APINCO de Ciencia e Tecnologia Avicolas. All rights reserved

Temporary pacemaker with left bundle branch block image in ECG [Geçici kalp pilinde EKG'de sol dal bloğu görüntüsü]

[No abstract available

Neutrophil-to-lymphocyte ratio, insulin resistance, and endothelial dysfunction in patients with autosomal dominant polycystic kidney disease.

Endothelial dysfunction (ED), insulin resistance (IR), and inflammation are risk factors for increased cardiovascular morbidity and mortality in autosomal dominant polycystic kidney disease (ADPKD). ADPKD patients may have increased carotid intima-media thickness (CIMT) and decreased coronary flow velocity reserve (CFVR). The neutrophil-to-lymphocyte ratio (NLR) was introduced as a marker to determine inflammation in various disorders. We aimed to investigate the relationship between NLR and IR, CFVR, CIMT, and the left ventricular mass index (LVMI) in normotensive ADPKD patients. Twentynine ADPKD patients (age 38.8 ± 10.2 years; 8 men and 21 women) and 19 healthy controls (age 33.8 ± 7.4 years; 8 men and 11 women) were included in this cross-sectional study. CFVR was calculated with echocardiography as the ratio of hyperemic to baseline diastolic peak coronary flow velocities. CIMT was measured in the distal common carotid artery by using a 10-MHz linear echocardiography probe. HOMA-IR was calculated NLR was calculated as the ratio of the neutrophil and lymphocyte counts. Age, sex, body mass index, and levels of glucose, creatinine, low-density lipoprotein (LDL)-cholesterol, high-density lipoprotein (HDL)-cholesterol, triglycerides, C-reactive protein (CRP), microalbuminuria, and creatinine clearance were similar between ADPKD patients and healthy subjects. NLR, CIMT, LVMI, and HOMA-IR were significantly higher and CFVR values were significantly lower in patients with ADPKD compared to that in healthy subjects. NLR showed positive correlation with CIMT, HOMA, insulin, glucose, and HDL cholesterol levels, while it was inversely correlated with CFVR and albumin level in all subjects. In patients with ADPKD, NLR showed positive correlation with HDL cholesterol level and inverse correlation with LVMI and albumin level. NLR that was found to be increased in patients with ADPKD may be a readily available marker of inflammation and ED