Bone disturbances and progression of atherosclerosis in ApoE knockout mice.

OBJECTIVES: Epidemiological evidence supports a link between atherosclerosis and osteoporosis. These conditions might share common pathophysiological mechanisms, with inflammation being one of the hypotheses.Apolipoprotein E deficient mice (ApoE-/-) develop atherosclerotic lesions spontaneously, further aggravated by a high-fat diet. Their bone remodelling is also disturbed. We hypothesised that a proinflammatory state could be a common contributive factor for vessel and bone disturbances observed in this animal model. METHODS: We evaluated vessels and bones of ApoE-/- and control C57BL/6 (B6) female mice fed a high-fat diet in five time-points (8, 16, 20, 24 and 28 weeks of age) and quantified the development of atherosclerotic lesions, analysed gene expression of inflammatory and bone remodelling proteins (IL-1ß, IL-6, IL-17A, TNF, RANKL, and OPG), measured serum bone turnover markers (P1NP and CTX-I), performed bone (L3-L4 vertebras) histomorphometric analysis and evaluated biomechanical properties of bones. RESULTS: We compared the outcomes of B6 and ApoE-/- groups at each time-point and, within each group, over time. Atherosclerotic lesions developed as previously described for ApoE-/- mice, but no significant differences were found in bone histomorphometry or biomechanical properties between ApoE-/- and B6 mice. Also, gene expression (either in bones or aortas) and serum biomarkers were similar in both groups. When considering over time evaluations we found that bone histomorphometry changes were similar between ApoE-/- and B6 mice, but CTX-I/P1NP ratio was significantly increased (meaning higher resorption than bone formation) in ApoE-/- as compared to B6 mice. CONCLUSIONS: Our study suggests that inflammation is not the principal driver for atherosclerosis progression and bone disturbances in this animal model.

Cephalometric determinants of facial attractiveness: A quadratic correlation study.

INTRODUCTION: This research aimed to determine the nonlinear correlation between lateral cephalometric measurements and facial attractiveness, evaluated in the frontal and profile views. A quadratic correlation was studied, in which the vertex of the function indicates the cephalometric value corresponding to the maximum attractiveness. METHODS: Frontal and profile facial attractiveness of 60 patients with Class I (n = 20), Class II (n = 20), or Class III malocclusion (n = 20) aged 18-35 years without previous orthodontic treatment was evaluated by 14 laypersons (7 men and 7 women) with a visual analog scale. Soft- and hard-tissue measurements were collected on lateral cephalometric radiographs. Pearson and nonlinear quadratic correlations between the attractiveness of the face and cephalometric measurements were calculated. Maximum attractiveness values (MxAt) were determined for the significant cephalometric variables. RESULTS: Significant quadratic correlations were found between frontal facial attractiveness and the following variables: Ls-SnPog' (r = 0.45; MxAt = 3.1 mm), Li-SnPog' (r = 0.41; MxAt = 3.8 mm), the ANB angle (r = 0.42; MxAt = 0.2°) and MPA (r = 0.51; MxAt = 31.9°). Profile attractiveness correlated nonlinearly with Ls-SnPog' (r = 0.42; MxAt = 3.2 mm), Li-SnPog' (r = 0.41; MxAt = 3.9 mm) and MPA (r = 0.46; MxAt = 32.4°). CONCLUSIONS: Significant quadratic correlations were found between facial attractiveness and cephalometric measurements, which were stronger than linear correlations. The maximum attractiveness points indicated a tendency for laypeople to consider a more protrusive lower lip and an ANB angle lower than the norm as the most attractive.

Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels.

Ever since the availability of genomes from Neanderthals, Denisovans, and ancient humans, the field of evolutionary genomics has been searching for protein-coding variants that may hold clues to how our species evolved over the last ∼600,000 years. In this study, we identify such variants in the human-specific NOTCH2NL gene family, which were recently identified as possible contributors to the evolutionary expansion of the human brain. We find evidence for the existence of unique protein-coding NOTCH2NL variants in Neanderthals and Denisovans which could affect their ability to activate Notch signaling. Furthermore, in the Neanderthal and Denisovan genomes, we find unusual NOTCH2NL configurations, not found in any of the modern human genomes analyzed. Finally, genetic analysis of archaic and modern humans reveals ongoing adaptive evolution of modern human NOTCH2NL genes, identifying three structural variants acting complementary to drive our genome to produce a lower dosage of NOTCH2NL protein. Because copy-number variations of the 1q21.1 locus, encompassing NOTCH2NL genes, are associated with severe neurological disorders, this seemingly contradicting drive toward low levels of NOTCH2NL protein indicates that the optimal dosage of NOTCH2NL may have not yet been settled in the human population.

Polyoxotungstate@Carbon Nanocomposites As Oxygen Reduction Reaction (ORR) Electrocatalysts.

The oxygen reduction reaction (ORR) has a crucial function as the cathode reaction in energy-converting systems, such as fuel cells (FCs), which contributes to a sustainable energy supply. However, the current use of precious Pt-based electrocatalysts (ECs) is a major drawback for the economic viability of fuel cells. Hence, it is urgent to develop cost-effective and efficient electrocatalysts (ECs) without noble metals to substitute the Pt-based ECs. Herein, we report the preparation and application as ORR electrocatalysts of four new nanocomposites based on sandwich-type phosphotungstate (TBA)7H3[Co4(H2O)2(PW9O34)2] (TBA-Co4(PW9)2) immobilized onto different carbon nanomaterials [single-walled carbon nanotubes (SWCNT), graphene flakes (GF), carbon nanotubes doped with nitrogen (N-CNT), and nitrogen-doped few layer graphene (N-FLG)]. In alkaline medium, the four nanocomposites studied presented comparable onset potentials (0.77-0.90 V vs RHE), which are similar to that observed for Pt/C (0.91 V vs RHE). Higher diffusion-limiting current densities ( jL,0.26V,1600 rpm = -168.3 mA cm-2 mg-1) were obtained for Co4(PW9)2@N-CNT, as compared to Pt/C electrode -130.0 mA cm-2 mg-1) and the other ECs (-45.0, -50.7, and -87.5 mA cm-2 mg-1 for Co4(PW9)2@SWCNT, Co4(PW9)2@GF, and Co4(PW9)2@N-FLG, respectively). All the Co4(PW9)2@CM ECs showed selectivity toward direct O2 reduction to water with the exception of Co4(PW9)2@GF where a mixture of the 2- and 4-electron mechanisms is observed. Furthermore, low Tafel slopes were obtained for all the nanocomposites (68-96 mV dec-1). Co4(PW9)2@CM ECs also showed excellent tolerance to methanol with no significant changes in current density, in contrast to Pt/C (decrease of ≈59% after methanol addition) and good long-term electrochemical stability with current retentions between 75 and 84%.

Simultaneous monitoring of maternal and fetal heart rate variability during labor in relation with fetal gender.

Male gender is considered a risk factor for several adverse perinatal outcomes. Fetal gender effect on fetal heart rate (FHR) has been subject of several studies with contradictory results. The importance of maternal heart rate (MHR) monitoring during labor has also been investigated, but less is known about the effect of fetal gender on MHR. The aim of this study is to simultaneously assess maternal and FHR variability during labor in relation with fetal gender. Simultaneous MHR and FHR recordings were obtained from 44 singleton term pregnancies during the last 2 hr of labor (H1, H2 ). Heart rate tracings were analyzed using linear (time- and frequency-domain) and nonlinear indices. Both linear and nonlinear components were considered in assessing FHR and MHR interaction, including cross-sample entropy (cross-SampEn). Mothers carrying male fetuses (n = 22) had significantly higher values for linear indices related with MHR average and variability and sympatho-vagal balance, while the opposite occurred in the high-frequency component and most nonlinear indices. Significant differences in FHR were only observed in H1 with higher entropy values in female fetuses. Assessing the differences between FHR and MHR, statistically significant differences were obtained in most nonlinear indices between genders. A significantly higher cross-SampEn was observed in mothers carrying female fetuses (n = 22), denoting lower synchrony or similarity between MHR and FHR. The variability of MHR and the synchrony/similarity between MHR and FHR vary with respect to fetal gender during labor. These findings suggest that fetal gender needs to be taken into account when simultaneously monitoring MHR and FHR.

Multielectrocatalysis by layer-by-layer films based on pararosaniline and vanadium-substituted phosphomolybdate.

Hybrid multilayer films based on the two molecular species pararosaniline (PR) and Keggin-type polyoxometalate K5[PMo11VO40)] (PMo11V) were prepared on different substrates using the electrostatic layer-by-layer (LbL) self-assembly method. The film buildup, monitored by electronic spectroscopy, showed a regular stepwise growth, and X-ray photoelectron spectroscopy data confirmed the presence of both molecular components within the LbL films. Scanning electron microscopy images revealed a completely covered surface with a nonuniform distribution of film components, and atomic force microscopy images confirmed a rough surface. The film electrochemical responses and permeability were studied by cyclic voltammetry. Films revealed three Mo-based redox processes (Mo(VI) → Mo(V)) and one V-based redox process (V(V) → V(IV)) in the potential range between 0.8 and -0.4 V vs Ag/AgCl. Studies with the redox probes [Fe(CN)6](3-/4-) and [Ru(NH3)6](3+/2+) showed that the films maintain the permeability even after six bilayers. Furthermore, the {PR/PMo11V}n multilayer films exhibit excellent Mo-based electrocatalytic activity toward reduction of iodate and V-based electrocatalytic activity toward ascorbic acid oxidation, thus acting as a versatile multielectrocatalyst.

Pathology, therapy and prognosis of papillary renal carcinoma.

Papillary renal cell carcinoma (pRCC) accounts for approximately 10% of renal parenchymal tumors. There are two pRCC subtypes reported in several studies, but at present, there is limited molecular evidence to validate this pRCC subtyping in the daily routine. The utility of subtyping pRCC is based on reports describing that pRCC subtype is an independent predictor of outcome, with type 1 tumors showing significantly better survival than type 2 tumors. In this article, we summarize the relevant knowledge on pRCC regarding tumor features: clinical presentation, histopathology, electron microscopy, immunohistochemistry, cytogenetics, genetic/molecular and prognosis. We present an overview of the currently available pRCC treatment options and some of the new promising agents.

Potential for organ donation after controlled circulatory death: a retrospective analysis.

Objectives: Despite the discrepancy between demand and availability of organs for transplantation, controlled circulatory death donation has not been implemented in Portugal. This study aimed to estimate the potential increase in organ donation from implementing such a program. Material and Methods: All deceased patients within the intensive care medicine department at Centro Hospitalar Universitário de São João, throughout the year 2019, were subjected to retrospective analysis. Potential gain was estimated comparing the results with the number of donors and organs collected during the same period at this hospital center. Differences in variables between groups were assessed using t tests for independent samples or Mann-Whitney U tests for continuous variables, and chi-squared tests were used for categorical variables. Results: During 2019, 152 deaths occurred after withdrawal of life-sustaining therapies, 10 of which would have been potentially eligible for donation after controlled circulatory death. We can anticipate a potential increase of 10 prospective donors, a maximum 21% growth in yearly transplantation activity, with a greater impact on kidney transplantation. For most patients, the time between withdrawal of organ support and death surpassed 120 minutes, an outcome explained by variations in withdrawal of life-sustaining measures and insufficient clinical records, underestimating the potential for controlled circulatory arrest donation. Conclusion: This study effectively highlights public health benefits of controlled circulatory arrest donation. Legislation allowing donation through this method represents a social gain and enables patients who will never meet brain death criteria to donate organs as part of the end-of-life process in intensive care medicine, within a framework of complete ethical alignment.

Detection of chromosomal aneuploidy in ancient genomes.

Ancient DNA is a valuable tool for investigating genetic and evolutionary history that can also provide detailed profiles of the lives of ancient individuals. In this study, we develop a generalised computational approach to detect aneuploidies (atypical autosomal and sex chromosome karyotypes) in the ancient genetic record and distinguish such karyotypes from contamination. We confirm that aneuploidies can be detected even in low-coverage genomes ( ~ 0.0001-fold), common in ancient DNA. We apply this method to ancient skeletal remains from Britain to document the first instance of mosaic Turner syndrome (45,X0/46,XX) in the ancient genetic record in an Iron Age individual sequenced to average 9-fold coverage, the earliest known incidence of an individual with a 47,XYY karyotype from the Early Medieval period, as well as individuals with Klinefelter (47,XXY) and Down syndrome (47,XY, + 21). Overall, our approach provides an accessible and automated framework allowing for the detection of individuals with aneuploidies, which extends previous binary approaches. This tool can facilitate the interpretation of burial context and living conditions, as well as elucidate past perceptions of biological sex and people with diverse biological traits.

Epidemiological and Clinical Aspects of Cutaneous and Mucosal Leishmaniases in Portugal: Retrospective Analysis of Cases Diagnosed in Public Hospitals and Reported in the Literature between 2010 and 2020.

Leishmania infantum, a zoonotic vector-born parasite, is endemic in the Mediterranean region, presenting mostly as visceral (VL), but also as cutaneous (CL) and mucosal leishmaniasis (ML). This study aimed to describe the epidemiological and clinical aspects of the CL and ML cases diagnosed in mainland Portugal between 2010 and 2020. Collaboration was requested from every hospital of the Portuguese National Health System. Cases were screened through a search of diagnostic discharge codes or positive laboratory results for Leishmania infection. Simultaneously, a comprehensive literature search was performed. Descriptive statistics and hypothesis testing were performed using IBM® SPSS® Statistics. A total of 43 CL and 7 ML cases were identified, with a predominance of autochthonous cases (86%). In CL, immunosuppressed individuals constituted a significant proportion of patients (48%), and in this group, disseminated CL (22%) and simultaneous VL (54%) were common. In autochthonous cases, lesions, mostly papules/nodules (62%), were frequently observed on the head (48%). The approach to treatment was very heterogeneous. ML cases were all autochthonous, were diagnosed primarily in older immunosuppressed individuals, and were generally treated with liposomal amphotericin B. The findings suggest a need for enhanced surveillance and reporting, clinical awareness, and diagnostic capacity of these forms of leishmaniasis to mitigate underdiagnosis and improve patient outcomes. A holistic One Health approach is advocated to address the multifaceted challenges posed by leishmaniases in Portugal and beyond.

Anti-ribosomal P protein IgG autoantibodies in patients with systemic lupus erythematosus: diagnostic performance and clinical profile.

BACKGROUND: This study was devised to assess the performance of anti-ribosomal P (anti-Rib-P) antibodies in the diagnosis of systemic lupus erythematosus (SLE) and the association of these antibodies with the clinical features of SLE. METHODS: We used a fluorescence enzyme immunoassay to determine anti-Rib-P levels in an SLE group, a rheumatic disease control (RDC) group (rheumatoid arthritis (RA), ankylosing spondylitis, psoriatic arthritis and juvenile idiopathic arthritis), and a healthy control (HC) group. We also determined anti-Smith antigen (anti-Sm) and anti-double-stranded DNA (anti-dsDNA) antibody levels. Receiver operating characteristic (ROC) curves were constructed and the best cut-off points for positivity were determined. Using regression analysis, the relationship between clinical variables and autoantibody levels was analyzed. RESULTS: In total, 127 patients with SLE, 256 controls with other rheumatic diseases, and 100 HCs were studied. Anti-Rib-P autoantibodies were positive in 18 (14.2%) of the patients with SLE (mean concentration of 30.6 ± 46.9 U/ml) and in 2 patients with RA (0.8% of the RDC group). In addition, 12 patients with SLE (9.4%) were positive for anti-Sm (31.1 ± 40.8 U/ml) and 63 (49.6%) were positive for anti-dsDNA autoantibodies (88.4 ± 88.5 U/ml). When we assessed the 18 patients with SLE who had tested positive for anti-Rib-P, we found that 4 of these were positive for anti-Rib-P only, whereas 12 were positive for anti-Rib-P plus anti-dsDNA, and 2 were positive for all three antibodies. There were no samples positive for anti-Rib-P plus anti-Sm. The specificity, sensitivity, positive likelihood ratio, and negative likelihood ratio of anti-Rib-P for SLE diagnosis were 99.4%, 14.2%, 23.7%, and 0.86%, respectively.Caucasian ethnicity was associated with lower anti-Rib-P antibody levels. No relation was found between anti-Rib-P levels and neuropsychiatric or other clinical features. CONCLUSIONS: Anti-Rib-P autoantibodies have high specificity for SLE, and measurement of these might improve the accuracy of SLE diagnosis. In this study, we found that Caucasian ethnicity was associated with lower anti-Rib-P antibody levels.

Drug Rash with Eosinophilia and Systemic Symptoms (DRESS Syndrome).

DRESS syndrome is an idiosyncratic drug reaction and potentially life-threatening. The authors report a case of this syndrome presenting with fever, rash, mucosal involvement, liver and muscle involvement associated with moxifloxacin treatment.

Sufentanil Sublingual Tablet System vs. Intravenous Patient-Controlled Analgesia with Morphine: Postoperative Pain Control and Its Impact in Quality of Recovery.

CONTEXT: Patient-controlled analgesia (PCA) is commonly used for postoperative pain control. Although widely used, intravenous (IV) morphine PCA may not be suitable for all patients. Sufentanil sublingual tablet system (SSTS) PCA is a recent technique that has had success as a safe and effective alternative for acute pain management. AIMS: This study aims to compare both the efficacy and safety of SSTS PCA versus IV morphine PCA in postoperative pain control and the quality of recovery in adult patients following scheduled gynecological or orthopedic surgery. SETTINGS AND DESIGN: Open-label, parallel-group, randomized controlled trial with 54 patients. The primary outcome was postoperative pain control, while the secondary outcomes included adverse effects associated with two analgesic modalities, total opioid dose required, patient satisfaction, and impact on the quality of postoperative recovery. METHODS AND MATERIAL: Statistical analysis was performed using IBM SPSS Statistics for Windows, Version 26.0 (Released 2019; IBM Corp., Armonk, New York, United States). The chi-squared test was used in categorical variables. When distribution was normal, T-student (mean ± standard deviation) was used in continuous variables. In contrast, when distribution was not normal, the Mann-Whitney test (median (minimal-maximal)) was used. RESULTS: The results showed that there was a statistically significant difference in the total dose of opioid used by patients at 24 hours postoperatively, with patients receiving SSTS PCA requiring a higher total dose when compared to those receiving IV morphine PCA. However, there were no statistically significant differences in pain scores, adverse events, or patient satisfaction. CONCLUSIONS: The study suggests that both IV morphine and sublingual sufentanil are safe and effective for postoperative pain management.

Amoxicillin-associated Stevens-Johnson syndrome or toxic epidermal necrolysis: systematic review.

Our aim was to explore and summarize available cases of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) suspected to be associated with amoxicillin reported in the literature. Electronic searches were conducted in several databases. Fifty-one publications describing a total of 64 patients who satisfied inclusion criteria were included in the review. The age of the patients ranged from 1.5-80 years (median: 24.5 years). TEN, SJS and SJS/TEN overlap were diagnosed in 30 (46.9%), 28 (43.8%) and 1 (1.6%) patients, respectively. SJS/TEN may occur promptly after administration of amoxicillin, but it could also be a delayed adverse effect. The total length of hospital stay ranged from 3-70 days (median: 16 days). Amoxicillin-induced SJS/TEN is accompanied by frequent occurrence of serious complications, long-term ocular and skin sequelae and high mortality rate. Clinicians should be aware that amoxicillin alone or combined with clavulanic acid can cause SJS/TEN in patients of all ages.

A Case of Acute Eosinophilic Pneumonia Triggered by the SARS-CoV-2 Virus.

We report a case of acute eosinophilic pneumonia (AEP) triggered by the coronavirus disease 2019 (COVID-19) infection. A 60-year-old male with chronic sinusitis and tobacco use presented to the emergency department (ED) with an acute onset of dyspnea, non-productive cough, and fever. A diagnosis of moderate SARS-CoV-2 infection with bacterial superinfection was made. He was discharged on antibiotic therapy. One month later, due to the persistence of symptoms, he returned to the ED. At this time, blood analysis showed eosinophilia and a chest computed tomography scan showed bilateral diffuse infiltrative changes. He was admitted to the hospital for the study of eosinophilic disease. A lung biopsy was performed, which showed eosinophilic pneumonia. Corticotherapy was started with symptoms and peripheral eosinophilia resolution, and imaging improvement.

Anaesthetic management of caesarean section in a patient with myofibrillar myopathy.

Myofibrillar myopathies (MFMs) are a group of rare genetic disorders that affect the function of skeletal, cardiac and smooth muscle.MFM exhibits a considerable degree of clinical heterogeneity. In numerous instances of MFM, muscle weakness is the predominant manifestation. Certain MFM subtypes are distinguished by respiratory and cardiac impairment.There is little information available about anaesthetic management in MFM, and even less is known about obstetric anaesthesia.A successful case of a patient with MFM undergoing a caesarean section under combined neuraxial anaesthesia is reported. The patient experienced no complications, and functional recovery was swift.

Graphene-Type Materials for the Dispersive Solid-Phase Extraction Step in the QuEChERS Method for the Extraction of Brominated Flame Retardants from Capsicum Cultivars.

A new application of graphene-type materials as an alternative cleanup sorbent in a quick, easy, cheap, effective, rugged, and safe (QuEChERS) procedure combined with GC-ECD/GC-MS/GC-MS/MS detection was successfully used for the simultaneous analysis of 12 brominated flame retardants in Capsicum cultivar samples. The chemical, structural, and morphological properties of the graphene-type materials were evaluated. The materials exhibited good adsorption capability of matrix interferents without compromising the extraction efficiency of target analytes when compared with other cleanups using commercial sorbents. Under optimal conditions, excellent recoveries were obtained, ranging from 90 to 108% with relative standard deviations of <14%. The developed method showed good linearity with a correlation coefficient above 0.9927, and the limits of quantification were in the range of 0.35-0.82 µg/kg. The developed QuEChERS procedure using reduced graphite oxide (rGO) combined with GC/MS was successfully applied in 20 samples, and the pentabromotoluene residues were quantified in two samples.

Magnetoliposomes with Calcium-Doped Magnesium Ferrites Anchored in the Lipid Surface for Enhanced DOX Release.

Nanotechnology has provided a new insight into cancer treatment by enabling the development of nanocarriers for the encapsulation, transport, and controlled release of antitumor drugs at the target site. Among these nanocarriers, magnetic nanosystems have gained prominence. This work presents the design, development, and characterization of magnetoliposomes (MLs), wherein superparamagnetic nanoparticles are coupled to the lipid surface. For this purpose, dimercaptosuccinic acid (DMSA)-functionalized Ca0.25Mg0.75Fe2O4 superparamagnetic nanoparticles were prepared for the first time. The magnetic nanoparticles demonstrated a cubic shape with an average size of 13.36 nm. Furthermore, their potential for photothermal hyperthermia was evaluated using 4 mg/mL, 2 mg/mL, and 1 mg/mL concentrations of NPs@DMSA, which demonstrated a maximum temperature variation of 20.4 °C, 11.4 °C, and 7.3 °C, respectively, during a 30 min NIR-laser irradiation. Subsequently, these nanoparticles were coupled to the lipid surface of DPPC/DSPC/CHEMS and DPPC/DSPC/CHEMS/DSPE-PEG-based MLs using a new synthesis methodology, exhibiting average sizes of 153 ± 8 nm and 136 ± 2 nm, respectively. Doxorubicin (DOX) was encapsulated with high efficiency, achieving 96% ± 2% encapsulation in non-PEGylated MLs and 98.0% ± 0.6% in stealth MLs. Finally, drug release assays of the DOX-loaded DPPC/DSPC/CHEMS MLs were performed under different conditions of temperature (37 °C and 42 °C) and pH (5.5 and 7.4), simulating physiological and therapeutic conditions. The results revealed a higher release rate at 42 °C and acidic pH. Release rates significantly increased when introducing the stimulus of laser-induced photothermal hyperthermia at 808 nm (1 W/cm2) for 5 min. After 48 h of testing, at pH 5.5, 67.5% ± 0.5% of DOX was released, while at pH 7.4, only a modest release of 27.0% ± 0.1% was achieved. The results demonstrate the potential of the MLs developed in this work to the controlled release of DOX under NIR-laser stimulation and acidic environments and to maintain a sustained and reduced release profile in physiological environments with pH 7.4.

TNF promoter -308 G>A and LTA 252 A>G polymorphisms in Portuguese patients with systemic lupus erythematosus.

The polymorphism of the tumor necrosis factor (TNF) promoter gene at position -308 and that of the lymphotoxin alpha (LTA) gene at position 252 have been implicated as genetic risk factors for systemic lupus erythematosus (SLE) in some populations. In a nested case-control study, we investigated the possible association of these polymorphisms with susceptibility to SLE and with phenotypic disease features in Portuguese Caucasian patients. TNF-308 G>A and LTA 252 A>G polymorphisms were determined by restriction fragment length polymorphism analysis in a cohort of 115 SLE patients and 152 unrelated healthy controls, and the magnitude of the association between genotypes and SLE diagnosis was calculated. For SLE patients, we also tested the association between disease characteristics and genotypes. No significant differences in genotype or allele frequencies could be identified between SLE cases and controls. Lupus nephritis (OR = 2.84; 95%CI 1.14-7.03, P = 0.02) and the presence of anti-Sm antibodies (OR = 3.11; 95%CI 1.08-8.94; P = 0.03) were significantly more prevalent among lupus patients possessing the TNF-308 A allele. The occurrence of nephritis was also higher in LTA 252 G allele carriers (OR = 2.90; 95%CI 1.12-7.54; P = 0.02). Our results do not support a major role of either the TNF-308 G>A or the LTA 252 A>G polymorphisms as genetic risk factors for SLE. Nevertheless, these polymorphisms appear to associate with the risk of renal lupus and distinct immunological features.

Cerebrospinal fluid fistula after combined spinal-epidural block.

Neuraxial anaesthesia is an essential technique in obstetric anaesthesia practice. Cerebrospinal fluid (CSF) fistula is a rare complication and there is no consensus about its clinical approach. We present a case of a 28-year-old nulliparous woman that developed a cutaneous CSF fistula following combined spinal and epidural block for caesarean delivery. After multidisciplinary discussion it was decided that hydration, absolute bed-rest and compressive dressing with abdominal binder was the best option and the patient fully recovered without any sequelae.Based on literature, symptoms of intracranial hypotension and leakage of clear fluid surrounding the puncture site usually motivate referral to anaesthesia. Management strategies can be both conservative and invasive, including direct suture of the skin puncture site and epidural blood patch.Regarding the anaesthesia practice on this topic, most of the available evidence is based on case reports, rendering the decision-making process challenging.