Racial differences in systemic sclerosis disease presentation: a European Scleroderma Trials and Research group study

Objectives. Racial factors play a significant role in SSc. We evaluated differences in SSc presentations between white patients (WP), Asian patients (AP) and black patients (BP) and analysed the effects of geographical locations.Methods. SSc characteristics of patients from the EUSTAR cohort were cross-sectionally compared across racial groups using survival and multiple logistic regression analyses.Results. The study included 9162 WP, 341 AP and 181 BP. AP developed the first non-RP feature faster than WP but slower than BP. AP were less frequently anti-centromere (ACA; odds ratio (OR) = 0.4, P < 0.001) and more frequently anti-topoisomerase-I autoantibodies (ATA) positive (OR = 1.2, P = 0.068), while BP were less likely to be ACA and ATA positive than were WP [OR(ACA) = 0.3, P < 0.001; OR(ATA) = 0.5, P = 0.020]. AP had less often (OR = 0.7, P = 0.06) and BP more often (OR = 2.7, P < 0.001) diffuse skin involvement than had WP.AP and BP were more likely to have pulmonary hypertension [OR(AP) = 2.6, P < 0.001; OR(BP) = 2.7, P = 0.03 vs WP] and a reduced forced vital capacity [OR(AP) = 2.5, P < 0.001; OR(BP) = 2.4, P < 0.004] than were WP. AP more often had an impaired diffusing capacity of the lung than had BP and WP [OR(AP vs BP) = 1.9, P = 0.038; OR(AP vs WP) = 2.4, P < 0.001]. After RP onset, AP and BP had a higher hazard to die than had WP [hazard ratio (HR) (AP) = 1.6, P = 0.011; HR(BP) = 2.1, P < 0.001].Conclusion. Compared with WP, and mostly independent of geographical location, AP have a faster and earlier disease onset with high prevalences of ATA, pulmonary hypertension and forced vital capacity impairment and higher mortality. BP had the fastest disease onset, a high prevalence of diffuse skin involvement and nominally the highest mortality

Acquired factor XII deficiency following transanal excision of rectal lesion by transanal minimally invasive surgery (TAMIS): a case report and literature review

Abstract Background Local excision (LE) is currently one of the most effective methods used in cases of large benign polyps, not suitable for endoscopic treatment, or early-stage neoplasms. LE is also alternative to anterior rectal resection in selected patients suffering from major comorbidities and limits for major abdominal procedure. Furthermore, LE results in less pain, reduced impact on bowel function, shorter duration of hospital stay, and lower rates of morbidity, mortality and stoma creation. In particular, early data on transanal minimally invasive surgery (TAMIS) are promising, but they come from single centre case series related to small groups of patients and more data are needed to draw a final conclusion on the safety of this novel approach for transanal resection. Case presentation A 62-year-old woman, following a positive faecal occult blood test and with unremarkable medical history, was admitted to hospital for excision of a large flat neoplastic lesion. Endoscopic biopsy demonstrated a tubular adenoma with high-grade dysplasia and was decided to proceed with surgical excision by TAMIS. After surgery, short-term outcomes revealed prolonged activated partial thromboplastin time, undetectable factor XII activity, fever, and partial dehiscence of rectal wall defect suture. Cross-mixing studies of patient plasma show no correction in either the immediate or incubated activated partial thromboplastin time, indicating the presence of an acquired factor XII inhibitor. Activated partial thromboplastin time and factor XII improved in the following weeks without any specific therapy in addition to antibiotic therapy. Conclusion This is the first report in which acquired inhibitor of coagulation factor XII is associated with a specific surgical procedure. This case has shown how trans-anal excision of rectal lesions, even when performed by minimally invasive means such as in case of TAMIS, is not free of complications. We consider the acute infection, resulting from early dehiscence of the suture, the trigger in an abnormal immune response, and inhibitor development

Case Report: Somatic Symptoms Veiling Gender Dysphoria in an Adolescent

Background: Somatic symptom disorder is common in children and adolescents; usually, it is an expression of a mental health problem or other conditions that lead to psychosocial impairment and suffering. Among these, in pubertal age, gender dysphoria should be considered. Case Presentation: We present the case of a 15-year-old girl admitted to the hospital because of a 2-month history of scattered arthralgia and myalgia, headache, and fatigue, with repeated visits to the emergency room. The physical exam was unremarkable, except for step walking and pain. Repeated diagnostic tests were normal, and consecutive psychological interviews disclosed intense suffering due to a gender incongruence. Referral to the hospital gender service was offered and refused by the parents. Conclusions: In pubertal age, gender dysphoria may be expressed through somatoform symptoms. Diagnosis is challenging to accept for the parents even in the presence of adequate multi-disciplinary hospital services

Metodo per l'analisi del processo di formazione di aggregati in un fluido biologico e relativa apparecchiatura di analisi / Method to analyze the cluster formation process in a biological fluid and corresponding analysis apparatus

Method to analyze the cluster formation process in a biological fluid, such as blood or hematic fluids, comprising at least a step in which the biological fluid is made to flow through at least a micro-channel (33) of a perfusion chamber (1 l)s there being a reactive substrate, such as a cyto-adhesive substrate, present in the micro-channel (33) to stimulate a clustering process in the biological fluid, and an optical acquisition step using an optical acquisition device (12), during which images relating to the formation of clusters are acquired in at least one investigation area (34) of the micro-channel (33).The method comprises an impedance assessment step associated to the optical acquisition step, during which, by means of impedance assessment means (35) disposed in correspondence to the investigation area (34) of the micro-channel (33), a measurement is carried out over time of the impedance of the biological fluid, the impedance being correlated to the formation of clusters, and a processing step during which the volume of the clusters which form in the investigation area (34) is determined, correlating, over time, information relating to the images acquired in the optical acquisition step with impedance data of the biological fluid acquired in the impedance assessment step

The Lesson Learned from the New c.2547-1G>T Mutation Combined with p.R854Q: When a Type 2N Mutation Reveals a Quantitative von Willebrand Factor Defect

Type 2N is a rare von Willebrand disease (VWD) variant involving an impairment in the factor VIII (FVIII) carrier function of von Willebrand factor (VWF). It has a phenotype that mimics hemophilia A, and FVIII binding to VWF (VWF:FVIIIB) is tested to differentiate between the two disorders. Type 2N VWF defects may also be associated with quantitative VWF mutations (type 2N/type 1), further complicating the identification of cases. We report on a new quantitative VWF mutation (c.2547-1G > T) revealed by a p.R854Q type 2N mutation acting as homozygous despite being carried as a heterozygous defect. The proband had near-normal VWF levels (initially ruling out a defective VWF synthesis) and slightly reduced FVIII levels, while a VWF:FVIIIB test showed significantly reduced binding. Routine tests on type 2N homozygotes or heterozygotes combined with quantitative VWF defects in our cohort showed reduced FVIII levels in both groups, but it was only in the former that the FVIII/VWF antigen (VWF:Ag) ratio was always significantly reduced. The two tests are therefore not enough to identify all forms of type 2N VWD. While relatives of type 2N homozygotes usually have normal FVIII levels and FVIII/VWF:Ag ratios, relatives of type 2N/type 1 may have high FVIII/VWF:Ag ratios, but their VWF:FVIIIB and/or VWF:FVIIIB/VWF:Ag ratios are always low. Measuring FVIII and VWF levels may therefore suggest type 2N VWD in patients carrying type 2N mutations alone, but not in type 2N combined with quantitative VWF defects. The VWF:FVIIIB test should consequently be included when exploring VWF function, whatever VWD patient's phenotype

Quantitative Proteomic Approach Targeted to Fibrinogen β Chain in Tissue Gastric Carcinoma

Elevated plasma fibrinogen levels and tumor progression in patients with gastric cancer (GC) have been largely reported. However, distinct fibrinogen chains and domains have different effects on coagulation, inflammation, and angiogenesis. The aim of this study was to characterize fibrinogen β chain (FGB) in GC tissues. Retrospectively we analyzed the data of matched pairs of normal (N) and malignant tissues (T) of 28 consecutive patients with GC at diagnosis by combining one- and two-dimensional electrophoresis (1DE and 2DE) with immunoblotting and mass spectrometry together with two-dimensional difference in gel electrophoresis (2D-DIGE). 1DE showed bands of the intact FGB at 50 kDa and the cleaved forms containing the fragment D at ~37–40 kDa, which corresponded to 19 spots in 2DE. In particular, spot 402 at ~50 kDa and spots 526 and 548 at ~37 kDa were of interest by showing an increased expression in tumor tissues. A higher content of spot 402 was associated with stomach antrum, while spots 526 and 548 amounts correlated with corpus and high platelet count (>208 × 109/L). The quantification of FGB and cleaved products may help to further characterize the interconnections between GC and platelet/coagulation pathways

A Novel Inversion Technique for Imaging Thrombus Volume in Microchannels Fusing Optical and Impedance Data

The aim of this paper is to present a novel inversion technique to measure the volume of thrombus induced under blood flow conditions in a lab-on-a-chip device. The device is composed by a microscope slide where parallel gold electrodes are sputtered and by a PDMS microchannel placed on the top of the slide. A thrombogenic substance is placed on the slide in such a way that hemostasis is induced when whole blood flows in the microchannel. The novel idea behind the inversion technique is to fuse optical and electrical impedance data to obtain a quasi real-time reconstruction of thrombus volume. This is not possible with the present state of the art optical imaging based on confocal microscopy that provides the thrombus volume estimation only at the end of the thrombus formation

A novel inversion technique for imaging thrombus volume in microchannels fusing optical and impedance data

The aim of this paper is to present a novel inversion technique to measure the volume of thrombus induced under blood flow conditions in a lab-on-a-chip device. The device is composed by a microscope slide where gold electrodes are sputtered and by a polydimethylsiloxane microchannel placed on the top of the slide. A thrombogenic substance is placed on the slide in such a way that hemostasis is induced when whole blood flows in the microchannel. The novel idea behind the inversion technique is to fuse optical and electrical impedance data to obtain a quasi-real-time reconstruction of thrombus volume. This is not possible with present state-of-the-art optical imaging based on confocal microscopy, which provides the thrombus volume estimation only at the end of the thrombus formation