Farber disease overlapping with stiff skin syndrome: Expanding the spectrum

Background: Farber Disease (MIM 228000)1 is a rare AR disorder fi rst described by Sidney Farber in 19522. Farber disease is usually recognized by the presence of three symptoms: Painful and progressively deformed joints, nodules under the skin and progressive hoarseness. Other organ systems may also be involved. As with most lysosomal storage diseases, the course of Farber’s Disease is progressive and death typically occurs in infancy. Stiff skin syndrome (SSS) (MIM %184900)1 was fi rst described by Esterly and McKusick as a disorder characterized by thickened and indurated skin of the entire body and limitation of joint mobility with fl exion contractures.Aim of the Study: Diagnosis and clarifi cation of overlapping in the clinicalpresentation of the studied case.Patients and Methods: Clinical report of an atypically presenting Farber case and analyzing the overlapping manifestations between the two syndromes.Results: Histopathological study was the conclusive diagnostic key in ourcase. Conclusion: Recognition of atypical or abortive cases is of practical importance as it may affect counseling or therapeutic decision making. Orodental manifestations were not previously considered but they may be of future diagnostic help.Keywords: Farber, stiff skin, lipogranulomatosis

PHYSIOLOGICAL AND BIOCHEMICAL RESPONSES OF WHEAT (TRITICUM AESTIVUM L.) PLANTS TO POLYAMINES UNDER LEAD STRESS

Objective: The distribution, growth, development and productivity of wheat plants are greatly affected by various abiotic stresses such as lead (Pb) stress which become one of the most abundant toxic metal in the earth crust. Under the three applied polyamine (PAs) applications, the efficiency of wheat plants to tolerate Pb2+ stress in terms of growth and yield characteristics was noticed to varying degrees. Methods: The current study focused on the impact of 2.0 mM lead (Pb2+) on growth and performance of wheat plants before and after PAs applications. The sterilized seeds were soaked for 8 h at room temperature, either in distilled water (as a control), 0.25 mM spermine (Spm), 0.50 mM spermidine (Spd), or in 1.0 mM putrescine (Put). Results: Point out that, better growth and yield characteristics, chlorophyll “a” (Chl-a), chlorophyll “b” (Chl-b), soluble sugars, indoles, and enzymatic antioxidants (i.e., peroxidase (POX), catalase, ascorbate peroxidase, ascorbate oxidase, polyphenol oxidase, and glutathione reductase) and the enzyme α-amylase contents were obtained with seed soaking in 0.25 mM Spm, 0.50 mM Spd, or 1.0 mM Put than those generated with seed soaking in water under 2.0 mM Pb2+ stress. In contrast, the concentration of endogenous Pb2+ was significantly reduced. Conclusion: Among all tested PAs, 1.0 mM Put showed the best results and thus is recommended, as seed soaking, for wheat to grow well under Pb2+ stress

catena-Poly[[dimethyl­bis­(thio­cyanato-κN)tin(IV)]-μ-(4,4′-bipyridine-κ2 N:N′)]

The title dimethyl­tin diisothio­cyanate adduct of 4,4′-bipyridine, [Sn(CH3)2(NCS)2(C10H8N2)]n, adopts a chain motif in which the N-heterocycle functions as a bridge to adjacent all-trans octa­hedrally coordinated tin atoms. The SnIV atom lies on a special position of 2/m site symmetry, the methyl C atom on a special position of 2 site symmetry, and the thio­cyanate and 4,4′-bipyridine on a special position of m site symmetry

A Systematic Review and Critical Appraisal of Peri-Procedural Tissue Perfusion Techniques and their Clinical Value in Patients with Peripheral Arterial Disease

Objective: Many techniques have been introduced to enable quantification of tissue perfusion in patients with peripheral arterial disease (PAD). Currently, none of these techniques is widely used to analyse real time tissue perfusion changes during endovascular or surgical revascularisation procedures. The aim of this systematic review was to provide an up to date overview of the peri-procedural applicability of currently available techniques, diagnostic accuracy of assessing tissue perfusion and the relationship with clinical outcomes. Data Sources: MEDLINE, Embase, CINAHL, and the Cochrane Central Register of Controlled Trials. Review Methods: This systematic review was conducted in accordance with the Preferred Reporting Items for Systematic review and Meta-Analysis (PRISMA) guidelines. Four electronic databases were searched up to 31 12 2020 for eligible articles: MEDLINE, Embase, CINAHL and the Cochrane Central Register of Controlled Trials. Eligible articles describing a perfusion measurement technique, used in a peri-procedural setting before and within 24 hours after the revascularisation procedure, with the aim of determining the effect of intervention in patients with PAD, were assessed for inclusion. The QUADAS-2 tool was used to assess the risk of bias and applicability of the studies. Results: An overview of 10 techniques found in 26 eligible articles focused on study protocols, research goals, and clinical outcomes is provided. Non-invasive techniques included laser speckle contrast imaging, micro-lightguide spectrophotometry, magnetic resonance imaging perfusion, near infrared spectroscopy, skin perfusion pressure, and plantar thermography. Invasive techniques included two dimensional perfusion angiography, contrast enhanced ultrasound, computed tomography perfusion imaging, and indocyanine green angiography. The results of the 26 eligible studies, which were mostly of poor quality according to QUADAS-2, were without exception, not sufficient to substantiate implementation in daily clinical practice. Conclusion: This systematic review provides an overview of 10 tissue perfusion assessment techniques for patients with PAD. It seems too early to appoint one of them as a reference standard. The scope of future research in this domain should therefore focus on clinical accuracy, reliability, and validation of the techniques

Influence of Plasma-Isolated Anthocyanins and Their Metabolites on Cancer Cell Migration (HT-29 and Caco-2) In Vitro: Results of the ATTACH Study

Cancer mortality is mainly due to metastasis. Therefore, searching for new therapeutic agents suppressing cancer cell migration is crucial. Data from human studies regarding effects of anthocyanins on cancer progression, however, are scarce and it is unclear whether physiological concentrations of anthocyanins and their metabolites reduce cancer cell migration in vivo. In addition, interactions with chemotherapeutics like 5-fluorouracil (5-FU) are largely unknown. Thus, we combined a placebo-controlled, double-blinded, cross-over study with in vitro migration studies of colon cancer cell lines to examine the anti-migratory effects of plasma-isolated anthocyanins and their metabolites (PAM). Healthy volunteers (n = 35) daily consumed 0.33 L of an anthocyanin-rich grape/bilberry juice and an anthocyanin-depleted placebo juice for 28 days. PAM were isolated before and after intervention by solid-phase extraction. HT-29 and Caco-2 cells were incubated with PAM in a Boyden chamber. Migration of HT-29 cells was significantly inhibited by PAM from juice but not from placebo. In contrast, Caco-2 migration was not affected. Co-incubation with 5-FU and pooled PAM from volunteers (n = 10), which most effectively inhibited HT-29 migration, further reduced HT-29 migration in comparison to 5-FU alone. Therefore, PAM at physiological concentrations impairs colon cancer cell migration and may support the effectiveness of chemotherapeutics

The Impact of Lower Extremity Skeletal Muscle Atrophy and Myosteatosis on Revascularization Outcomes in Patients with Peripheral Arterial Disease

Background: This study investigated whether lower extremity muscle atrophy and myosteatosis in patients with peripheral arterial disease (PAD) are correlated to postoperative outcomes, such as reintervention or amputation-free survival. Methods: In this single-center retrospective cohort study of 462 patients treated for peripheral arterial disease scheduled for intervention, muscle mass and the presence of fattening of the lower extremity muscles were measured semiautomatically in a single computed tomography slice of the treated leg. Binary logistic regression models and Cox proportional hazards models were used to determine the effect of muscle atrophy and myosteatosis on reintervention and amputation. Results: Muscle atrophy and myosteatosis increased in PAD patients with Fontaine class IV compared with Fontaine class IIa. In PAD patients with muscle atrophy or myosteatosis, no association was found with the reintervention rate or reintervention-free survival, but an association was found with amputation-free survival, even after adjustment for patient-related, disease-severity, and comorbidities-related factors. Conclusion: Muscle atrophy and mysosteatosis increased in PAD patients with increasing disease severity. Lower extremity muscle atrophy and myosteatosis are associated with amputation rate and amputation-free survival in PAD patients. No association with reintervention rate or reintervention-free survival was found. Muscle atrophy and myosteatosis may serve as additional risk factors in decision making in the often frail vascular patient

Hyperspectral imaging for noninvasive tissue perfusion measurements of the lower leg:review of literature and introduction of a standardized measurement protocol with a portable system

INTRODUCTION: Hyperspectral imaging (HSI) is a noninvasive technique for transcutaneous measurements of tissue perfusion. This study (1) provides a review of the current literature on HSI for tissue perfusion measurements of the lower leg and (2) introduces a standardized measurement protocol for HSI measurements with a portable system. EVIDENCE ACQUISITION: A literature search was performed for studies on tissue perfusion measurements with HSI in the lower extremity. A standardized protocol was developed to perform HSI measurements in 43 healthy volunteers at the plantar side of the foot and at the lateral side of the calf, with 3 consecutive hyperspectral images at each location. EVIDENCE SYNTHESIS: The literature review identified 9 studies, including 2 of healthy volunteers. 4 of patients with diabetes mellitus, and 3 of patients with peripheral arterial disease. In 5 of 7 patient studies, HSI values were associated with severity of disease or wound healing. In our study, the healthy volunteers' I ISI values for oxyhemoglobin, deoxyhemoglobin, and oxygen saturation were (mean +/- SD) 82.8 +/- 24, 55.7 +/- 15.7, and 59.2 +/- 11.7, respectively, at the plantar surface of the foot, and 40.8 +/- 11, 38.0 +/- 7.8, and 51.7 +/- 10.5, respectively, at the lateral side of the calf. HSI values differed significantly between the calf and plantar locations. Intraoperator reliability between the 3 consecutive images ranged from 81% to 89%. CONCLUSIONS: Limited evidence indicates that HSI is associated with severity of peripheral arterial disease and diabetes mellitus, and with wound healing. Hyperspectral images with a portable system can be taken with high precision when a standardized measurement protocol is used. However, differences exist at several locations at the lower extremity, so each measurement location should be used as its own reference when consecutive measurements are performed during follow-up. More studies with larger patient cohorts should be performed before HSI can be incorporated as standard tool in the diagnostic armamentarium of the vascular specialist

Water Impingement Erosion of Deep-Rolled Ti64

In this work, the Liquid Impingement Erosion (LIE) performances of deep-rolling (DR) treated and non-treated Ti64 were investigated. Various erosion stages, from the incubation to the terminal erosion stages, could be observed. A full factorial design of experiments was used to study the effect of DR process parameters (Feed Rate, Spindle Velocity, Number of Passes, Pressure) on the residual stress distribution, microhardness and surface roughness of the treated Ti64 specimens. The DR-treated Ti64 specimens exhibited improved surface microhardness, surface roughness, and large magnitude of compressive residual stresses, which were attributed to the amount of cold work induced by the DR process. Although DR improved the mechanical properties of the Ti64, the results showed that the treatment has little or no effect on the LIE performance of Ti64 but different damage modes were observed in these two cases. Evolution of the erosion stages was described based on water-hammer pressure, stress waves, radial wall jetting, and hydraulic penetration modes. The initial erosion stages were mainly influenced by water-hammer pressure and stress waves, whereas the intermediate erosion stages were influenced by the combination of the four modes together. The final erosion stages contain the four modes, however the erosion was greatly driven by the radial jetting and hydraulic penetration modes, where more material was removed. The failure mechanism of the final stages of the LIE test of both DR-treated and non-treated Ti64 was characterized as fatigue fracture. However, a brittle fracture behavior was observed in the initial and intermediate erosion stages of the DR-treated Ti64, whereas a ductile fracture behavior was observed in the non-treated Ti64. This was concluded from the micrographs of the LIE damage through different erosion stages