12/06/2024


To address how genetic variation alters gene expression in complex cell mixtures, we developed direct nuclear tagmentation and RNA sequencing (DNTR-seq), which enables whole-genome and mRNA sequencing jointly in single cells. DNTR-seq readily identified minor subclones within leukemia patients. In a large-scale DNA damage screen, DNTR-seq was used to detect regions under purifying selection and identified genes where mRNA abundance was resistant to copy-number alteration, suggesting strong genetic compensation. mRNA sequencing (mRNA-seq) quality equals RNA-only methods, and the low positional bias of genomic libraries allowed detection of sub-megabase aberrations at ultra-low coverage. Each cell library is individually addressable and can be re-sequenced at increased depth, allowing multi-tiered study designs. Additionally, the direct tagmentation protocol enables coverage-independent estimation of ploidy, which can be used to identify cell singlets. https://www.selleckchem.com/products/mg-101-alln.html Thus, DNTR-seq directly links each cell's state to its corresponding genome at scale, enabling routine analysis of heterogeneous tumors and other complex tissues.Well-balanced and timed metabolism is essential for making a high-quality egg. However, the metabolic framework that supports oocyte development remains poorly understood. Here, we obtained the temporal metabolome profiles of mouse oocytes during in vivo maturation by isolating large number of cells at key stages. In parallel, quantitative proteomic analyses were conducted to bolster the metabolomic data, synergistically depicting the global metabolic patterns in oocytes. In particular, we discovered the metabolic features during meiotic maturation, such as the fall in polyunsaturated fatty acids (PUFAs) level and the active serine-glycine-one-carbon (SGOC) pathway. Using functional approaches, we further identified the key targets mediating the action of PUFA arachidonic acid (ARA) on meiotic maturation and demonstrated the control of epigenetic marks in maturing oocytes by SGOC network. Our data serve as a broad resource on the dynamics occurring in metabolome and proteome during oocyte maturation.A 48 year-old female patient presented with arterial hypertension. Computed tomography angiography revealed small stenoses alternating with areas of dilatation (due to small fusiform aneurysms) in the middle to distal portions of the main renal arteries, creating a "string of beads" appearance, findings in keeping with fibromuscular dysplasia.A 42 years-old female presented with right inguinal swelling with one year of evolution. Magnetic resonance imaging was suggestive of inguinal endometriosis adherent to femoral vessels. Due to the rarity of this pathology (prevalence 0.3-0.6%), clinical suspicion is essential. Surgical excision is the treatment of choice.A 26 year old male, submitted to resection of a ganglioneuroma of the right pulmonary apex through a right Grunenwald approach. The mass insinuated through the innominate vessels, extending posteriorly to the subclavian artery, which it encircled for over 180 degrees, and the right thyrocervical arterial trunk, which was ligated.Aortoiliac occlusive disease (AIOD) remains an area of debate concerning open and endovascular treatment options. A case of a 63-year old female is reported, with previous known vascular intermittent claudication, that presented in the emergency room with acute ischemia of the right lower limb with 24-hours of evolution. The computer tomographic angiography unveiled occlusion of the superior mesenteric artery, occlusion of left common iliac artery (CIA), subocclusive stenosis of right CIA, occlusion of distal runoffs vessels in the right lower limb and diffuse aorto-iliac disease. The first approach was to place the patient under catheter directed thrombolysis (48h) which led to right pedal pulse recovery but the occlusion of left CIA remained. The patient was then electively submitted to Covered Endovascular Repair of Aortic Bifurcation (CERAB) with chimney to inferior mesenteric artery and with an additional bailout left iliac sandwich due to dissection. Distal pulses are still present after 18 months of follow-up. Endovascular techniques provide a low morbimortality option with similar symptomatic improvement, challenging open surgery as the standard of care even in complex AIOD.Aortic mural thrombus is a rare condition with 0.45% incidence in the general population, being the thoracic aorta the most affected portion. In the absence of an atherosclerotic wall lesion, other specific conditions should be studied and excluded. The authors describe two clinical cases of a 64 years old male and a 48 years old female that despite a non- -atherosclerotic diseased aorta, had a thoracic mural thrombus which presented clinically with mesenteric and lower limb microembolization, respectively. Once presented with peripheral embolization, the aim should be to exclude the embolic source and prevent end organ malfunction. TEVAR has been developed as a therapeutic solution to exclude the embolic source, with a high rate of technical success and few comorbidities associated. Long term anti-coagulation is debatable but may prevent further embolization events.AIntroduction Doege-Potter's syndrome is a rare paraneoplastic syndrome, consisting in hypoglycemia and solitary fibrous tumor of the pleura. These tumors represent less then 5% of all pleural tumours and can only be cured by surgery. In this article, we report a case of a patient presenting with severe hypoglycemia, as the only symptom, and a mass occupying the entire left hemithorax. Case presentation A54 year old female with severe hypoglycemia, a chest radiography with almost total opacification of the left hemithorax and a computed tomography scan with a mass in the left hemithorax. Surgery was performed and a mass with 30cm × 18cm × 11cm weighing 3195g was resected. The postoperative course was uneventful with immediate resolution of the hypoglycemia. The immunohistochemistry diagnosis was solitary fibrous tumor of the pleura. Conclusions Solitary fibrous tumor of the pleura are very rare. Less than 5% are associated with hypoglycemia, taking the form of Doege-Potter Syndrome. Radiation therapy and chemotherapy have shown low response rate and complete surgical resection is the only procedure that offers cure.