Vacuum-assisted closure treatment of leg skin necrosis after angiographic embolization of a giant plexiform neurofibroma

Type 1 neurofibromatosis is a relatively common inherited disease of the nervous system, with a frequency of almost 1 in 3000. It is associated with neurofibromas of various sites. Our case report is about the surgical management of a giant neurofibroma of the right gluteal fold in a 46-year-old male with NF1. The patient presented with increasing edema and accelerated growth of the mass; he underwent percutaneous embolization of lesion vessels that induced necrosis of the neurofibroma. The patient was taken to the operating room, where surgical resection of the bulk of the lesion was undertaken. The postoperative course was complicated by delayed wound closure managed with antibiotics and vacuum-assisted wound closure. Giant neurofibromas similar to this tumor require complex preoperative, intraoperative and postoperative management strategies. Surgical debulk is best managed with preoperative percutaneous embolization that help to avoid surgical bleeding. Postoperative delayed wound closure was managed with the application of negative pressure in a closed environment that triggers granulation and tissue formation.

Eosinophilic Fasciitis: an Atypical Presentation of a Rare Disease

Objectives: We report an atypical presentation of eosinophilic fasciitis and provide a concise overview of the literature. Materials and Methods: Clinical and laboratory findings in a patient presenting with fever and skin induration were recorded. A deep muscle biopsy was performed in order to confirm the diagnosis. Results: A spontaneous favourable clinical and radiological evolution was observed. Conclusion: The diagnosis of eosinophilic fasciitis is challenging due to the lack of pathognomonic signs and symptoms. As spontaneous resolution has been described, watchful waiting is defendable depending on the clinical presentation. Although magnetic resonance imaging (MRI) can be useful in establishing the diagnosis, a deep muscle biopsy remains the gold standard diagnostic tool.

Production locality influences postharvest disease development and quality in mangoes

Postharvest disease management is one of the key challenges in commercial mango supply chains. Comprehensive investigations were made regarding the impact of geographic locality on postharvest disease development and other quality parameters in 'Sindhri' and 'Samar Bahisht (S.B.) Chaunsa' mangoes under ambient (33±1°C; 55-60% RH) and low temperature storage/simulated shipping (12±1°C; 80- 85% RH) conditions (28 or 35 days storage for 'Sindhri' and 21 or 28 days for 'S.B. Chaunsa'). Physiologically mature (days from fruit set were 95-100 and 110-115 for 'Sindhri' and 'S.B Chaunsa', respectively) 'Sindhri' and 'S.B. Chaunsa' fruits were harvested from five geographic localities and subjected to ambient and simulated shipping conditions. Under ambient conditions, no disease incidence was observed till fruit eating stage in 'Sindhri'. However, in 'S.B. Chaunsa', significant variation in different localities was observed with respect to disease incidence. Maximum and at par disease was exhibited by the fruit collected from district Vehari and Khanewal in 'S.B. Chaunsa'. Under simulated shipping conditions, disease development varied significantly with respect to different locations and storage durations. In 'Sindhri', fruit of M. Garh, while, 'S.B. Chaunsa' fruit of districts R.Y. Khan, M. Garh and Khanewal showed higher disease incidence. Fruit peel colour development was significantly reduced as storage days increased. Fruit firmness, skin shriveling, fresh weight loss, dry matter, biochemical and organoleptic attributes also varied significantly among the fruit sourced from different orchards of different localities. Analysis of N contents in leaves and fruit peel revealed that N contents of leaf and peel were positively correlated with disease severity in mango. Botryodiplodia spp., Phomopsis mangiferae, Alternaria alternata, Colletotrichum gloeosporioides were the pathogens isolated from fruits of all locations; however, the prevalence frequency varied with the geographic localities. In conclusion, the production locality, cultivar and nutrition (nitrogen content of fruit peel) had significant effect on fruit quality out-turn at ripe stage in terms of disease development so area specific disease management system needs to be implemented for better quality at retail.

Ancient Bruises: a Case of Skin Lesions due to Vitamin C Deficiency

Scurvy was a common 18th century disease caused by vitamin C deficiency. It presents with multiple non-specific symptoms and can lead to capillary fragility due to impaired collagen synthesis. We report the case of a 63-year-old woman who presented with fatigue, nausea and progressive skin lesions consisting of multiple ecchymoses on the legs as also described in the diary drawings of a navy doctor in the 19th century. The ascorbic acid level was undetectable low in the patient’s serum. However, treatment with 500 mg ascorbic acid daily dramatically improved the skin lesions within 5 days.

Rootstock selection, nitrogen and calcium influence postharvest disease in avocado

Field trials evaluating several parameters of growth, fruit yield and quality of 'Hass' avocado grafted to different rootstocks were established in 2004-2005 in four different growing regions of Australia. Fruit were harvested in three seasons from 2008, ripened and assessed for severity and incidence of anthracnose and stem end rot diseases. Peel samples were collected at harvest and analysed for concentrations of the cations (N, K, Ca, Mg). Rootstock significantly affected marketability of fruit (no stem end rot and less than 5% anthracnose) in 58% of the total number of trials evaluated, with better quality fruit harvested from 'Hass' grafted to Guatemalan or West Indian rootstocks such as 'A10' or 'Velvick'. Fruit quality was frequently poor from trees grafted to Mexican race rootstocks, regardless of growing location. Correlation analyses showed that fruit from rootstocks with superior fruit quality was often associated with lower skin N and higher Ca concentrations. There were significant positive correlations between anthracnose and skin N or N:Ca ratio in 75% of trials evaluated. There was a significant negative correlation between anthracnose and Ca in 42% of trials. The correlations between stem end rot and skin N (positive) or Ca (negative) were each significant in 42% of trials. Based on the results in this project, N:Ca ratios in the skin of unripe avocado fruit at harvest may provide one of the best indicators of potential postharvest disease in ripe fruit, and may have implications for fertiliser regimes.

Neoadjuvant chemotherapy in Albinos with locally advanced skin cancer at a Blantyre Hospital: - Case Series

Albinism in Africa remains a public health concern with increasing numbers of advanced skin cancer in this population at presentation. There are challenges with availability of Radiotherapy (RT) units in Africa which is an important modality for controlling loco-regional disease alone or in combination with surgery. Proposed chemotherapy regimens have not been well validated through Randomized Controlled Trials thus posing difficulties for standard of care for units that do not have access to functional RT facilities. Malawi is one such country without radiotherapy. Case summary Seven patients with locally advanced skin cancer were seen in the adult oncology unit at Queen Elizabeth Central Hospital in Blantyre (QECH), Malawi between 2010 and 2013. QECH is one of the teaching hospitals in the country. All were subjected to neo-adjuvant chemotherapy. The primary treatment aim was cyto-reduction followed by surgery whilst the secondary outcome was general symptom control. Three patients achieved complete responses of which two underwent resection and a pectoralis major myocutaneous flap. One had a near complete response and three showed partial responses. Conclusion Neo-adjuvant chemotherapy may be a possible.

Skin microbiome before development of atopic dermatitis: Early colonization with commensal staphylococci at 2 months is associated with a lower risk of atopic dermatitis at 1 year

Background: Disease flares of established atopic dermatitis (AD) are generally associated with a low-diversity skin microbiota and Staphylococcus aureus dominance. The temporal transition of the skin microbiome between early infancy and the dysbiosis of established AD is unknown. Methods: We randomly selected 50 children from the Cork Babies After SCOPE: Evaluating the Longitudinal Impact Using Neurological and Nutritional Endpoints (BASELINE) longitudinal birth cohort for microbiome sampling at 3 points in the first 6 months of life at 4 skin sites relevant to AD: the antecubital and popliteal fossae, nasal tip, and cheek. We identified 10 infants with AD and compared them with 10 randomly selected control infants with no AD. We performed bacterial 16S ribosomal RNA sequencing and analysis directly from clinical samples. Results: Bacterial community structures and diversity shifted over time, suggesting that age strongly affects the skin microbiome in infants. Unlike established AD, these patients with infantile AD did not have noticeably dysbiotic communities before or with disease and were not colonized by S aureus. In comparing patients and control subjects, infants who had affected skin at month 12 had statistically significant differences in bacterial communities on the antecubital fossa at month 2 compared with infants who were unaffected at month 12. In particular, commensal staphylococci were significantly less abundant in infants affected at month 12, suggesting that this genus might protect against the later development of AD. Conclusions: This study suggests that 12-month-old infants with AD were not colonized with S aureus before having AD. Additional studies are needed to confirm whether colonization with commensal staphylococci modulates skin immunity and attenuates development of AD.

Estudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1

Se describe la variante homocigota c.320-2A>G de TGM1 en dos hermanas con ictiosis congénita autosómica recesiva. El clonaje de los transcritos generados por esta variante permitió identificar tres mecanismos moleculares de splicing alternativos.

Skin as a promising biomatrix for the early detection of misfolded proteins by RT-QuIC in neurodegenerative diseases

Real-Time Quaking-Induced Conversion (RT-QuIC) is an ultrasensitive assay capable of detecting pathological aggregates of misfolded proteins in biospecimens. In recent years, efforts have been made to find a more feasible and convenient biomatrix as an alternative to CSF, and skin biopsy may be a suitable candidate. This project aimed to evaluate the diagnostic performance of skin RT-QuIC in 3 different cohorts of patients: 1. Creutzfeldt-Jakob disease (CJD), 2. Lewy body disease (LBD), and 3. Isolated REM sleep behavior disorder (iRBD). We studied 71 punch skin samples of 35 patients with CJD, including five assessed in vitam, using 2 two different substrates: Bank vole 23-230 (Bv23-230) and Syrian hamster 23-231 (Ha23-231) recombinant prion protein. Skin prion RT-QuIC showed a 100% specificity with both substrates and a higher sensitivity with the Bv23-230 than Ha23-231 (87.5% vs. 65.6%, respectively). Forty-one patients underwent both lumbar puncture (LB) and skin biopsy; CSF and skin RT-QuIC showed a high level of concordance (38/41, 92.7%). Then, we analyzed samples taken in vitam (n=69) or postmortem (n=49) from patients with Parkinson’s disease (PD), dementia with Lewy bodies (DLB), incidental Lewy body pathology, and neurological controls. Skin α-syn RT-QuIC distinguished LBD patients with an overall accuracy of 94.1% in the two cohorts (sensitivity, 89.2%; specificity, 96.3%). Seventy-nine patients underwent both CSF and skin α-syn RT-QuIC, and the two assays yielded similar diagnostic accuracy (skin, 97.5%; CSF, 98.7%). Finally, we studied 91 iRBD patients and 41 control. In the skin, RT-QuIC showed a sensitivity of 76.9%, specificity of 97.6%, and 82.0% accuracy. 128 participants (88 patients plus 40 controls) underwent both CSF and skin RT-QuIC. The two protocols showed 99.2% of concordance. These works confirmed that skin punch biopsies might represent a valid and convenient alternative to CSF analysis for an early diagnosis of prion diseases and LB-related pathologies.

Adapting The Sniffin' Sticks Olfactory Test To Diagnose Parkinson's Disease In Estonia.

The aim of the study was to develop a culturally adapted translation of the 12-item smell identification test from Sniffin' Sticks (SS-12) for the Estonian population in order to help diagnose Parkinson's disease (PD). A standard translation of the SS-12 was created and 150 healthy Estonians were questioned about the smells used as response options in the test. Unfamiliar smells were replaced by culturally familiar options. The adapted SS-12 was applied to 70 controls in all age groups, and thereafter to 50 PD patients and 50 age- and sex-matched controls. 14 response options from 48 used in the SS-12 were replaced with familiar smells in an adapted version, in which the mean rate of correct response was 87% (range 73-99) compared to 83% with the literal translation (range 50-98). In PD patients, the average adapted SS-12 score (5.4/12) was significantly lower than in controls (average score 8.9/12), p < 0.0001. A multiple linear regression using the score in the SS-12 as the outcome measure showed that diagnosis and age independently influenced the result of the SS-12. A logistic regression using the SS-12 and age as covariates showed that the SS-12 (but not age) correctly classified 79.0% of subjects into the PD and control category, using a cut-off of <7 gave a sensitivity of 76% and specificity of 86% for the diagnosis of PD. The developed SS-12 cultural adaption is appropriate for testing olfaction in Estonia for the purpose of PD diagnosis.

Structural Connectivity Of The Default Mode Network And Cognition In Alzheimer׳s Disease.

Disconnectivity between the Default Mode Network (DMN) nodes can cause clinical symptoms and cognitive deficits in Alzheimer׳s disease (AD). We aimed to examine the structural connectivity between DMN nodes, to verify the extent in which white matter disconnection affects cognitive performance. MRI data of 76 subjects (25 mild AD, 21 amnestic Mild Cognitive Impairment subjects and 30 controls) were acquired on a 3.0T scanner. ExploreDTI software (fractional Anisotropy threshold=0.25 and the angular threshold=60°) calculated axial, radial, and mean diffusivities, fractional anisotropy and streamline count. AD patients showed lower fractional anisotropy (P=0.01) and streamline count (P=0.029), and higher radial diffusivity (P=0.014) than controls in the cingulum. After correction for white matter atrophy, only fractional anisotropy and radial diffusivity remained significantly lower in AD compared to controls (P=0.003 and P=0.05). In the parahippocampal bundle, AD patients had lower mean and radial diffusivities (P=0.048 and P=0.013) compared to controls, from which only radial diffusivity survived for white matter adjustment (P=0.05). Regression models revealed that cognitive performance is also accounted for by white matter microstructural values. Structural connectivity within the DMN is important to the execution of high-complexity tasks, probably due to its relevant role in the integration of the network.

Autologous Platelet Gel: Five Cases Illustrating Use On Sickle Cell Disease Ulcers.

Leg ulcers represent a particularly disabling complication in patients with sickle cell disease (SCD). Platelet gel (PG) is a novel therapeutic strategy used for accelerating wound healing of a wide range of tissues through the continuous release of platelet growth factors. Here, we describe the use of PG preparation according to Anitua's PRGF (preparations rich in growth factors) protocol for treating chronic nonhealing ulcers in patients with SCD. A positive response occurred in 3 patients with an area reduction of 85.7% to 100%, which occurred within 7 to 10 weeks, and a 35.2% and 20.5% of area reduction in 2 other patients, who however, had large ulcers. After calcium chloride addition, the platelet-rich plasmas demonstrated enhanced platelet-derived growth factors-BB (P < .001), transforming growth factor-β1 (P = .015), vascular endothelial growth factors (P = .03), and hepatocyte growth factors (nonsignificant) secretion. Furthermore, calcium chloride addition induced a significant decrease in platelet number (P = .0134) and there was no leukocyte detection in the PG product. These results demonstrate that PG treatment might impact the healing of leg ulcers in sickle cell disease, especially in patients with small ulcers.

Profile Of The Use Of Disease Modifying Drugs In The Brazilian Registry Of Spondyloarthritides.

Few studies have evaluated the profile of use of disease modifying drugs (DMD) in Brazilian patients with spondyloarthritis (SpA). A common research protocol was applied prospectively in 1505 patients classified as SpA by criteria of the European Spondyloarthropathies Study Group (ESSG), followed at 29 referral centers in Rheumatology in Brazil. Demographic and clinical variables were obtained and evaluated, by analyzing their correlation with the use of DMDs methotrexate (MTX) and sulfasalazine (SSZ). At least one DMD was used by 73.6% of patients: MTX by 29.2% and SSZ by 21.7%, while 22.7% used both drugs. The use of MTX was significantly associated with peripheral involvement, and SSZ was associated with axial involvement, and the two drugs were more administered, separately or in combination, in the mixed involvement (p < 0.001). The use of a DMD was significantly associated with Caucasian ethnicity (MTX , p = 0.014), inflammatory back pain (SSZ, p = 0.002) , buttock pain (SSZ, p = 0.030), neck pain (MTX, p = 0.042), arthritis of the lower limbs (MTX, p < 0.001), arthritis of the upper limbs (MTX, p < 0.001), enthesitis (p = 0.007), dactylitis (MTX, p < 0.001), inflammatory bowel disease (SSZ, p < 0.001) and nail involvement (MTX, p < 0.001). The use of at least one DMD was reported by more than 70% of patients in a large cohort of Brazilian patients with SpA, with MTX use more associated with peripheral involvement and the use of SSZ more associated with axial involvement.

Defective Apoptosis In Intestinal And Mesenteric Adipose Tissue Of Crohn's Disease Patients.

Crohn's disease (CD) is associated with complex pathogenic pathways involving defects in apoptosis mechanisms. Recently, mesenteric adipose tissue (MAT) has been associated with CD ethiopathology, since adipose thickening is detected close to the affected intestinal area. However, the potential role of altered apoptosis in MAT of CD has not been addressed. To evaluate apoptosis in the intestinal mucosa and MAT of patients with CD. Samples of intestinal mucosa and MAT from patients with ileocecal CD and from non-inflammatory bowel diseases patients (controls) were studied. Apoptosis was assessed by TUNEL assay and correlated with the adipocytes histological morphometric analysis. The transcriptional and protein analysis of selected genes and proteins related to apoptosis were determined. TUNEL assay showed fewer apoptotic cells in CD, when compared to the control groups, both in the intestinal mucosa and in MAT. In addition, the number of apoptotic cells (TUNEL) correlated significantly with the area and perimeter of the adipose cells in MAT. Transcriptomic and proteomic analysis reveal a significantly lower transcript and protein levels of Bax in the intestinal mucosa of CD, compared to the controls; low protein levels of Bax were found localized in the lamina propria and not in the epithelium of this tissue. Furthermore, higher level of Bcl-2 and low level of Caspase 3 were seen in the MAT of CD patients. The defective apoptosis in MAT may explain the singular morphological characteristics of this tissue in CD, which may be implicated in the pathophysiology of the disease.

Angiogenic Effects Of Cryosurgery With Liquid Nitrogen On The Normal Skin Of Rats, Through Morphometric Study.

Cryosurgery is an efficient therapeutic technique used to treat benign and malignant cutaneous diseases. The primary active mechanism of cryosurgery is related to vascular effects on treated tissue. After a cryosurgical procedure, exuberant granulation tissue is formed at the injection site, probably as a result of angiogenic stimulation of the cryogen and inflammatory response, particularly in endothelial cells. To evaluate the angiogenic effects of freezing, as part of the phenomenon of healing rat skin subjected to previous injury. Two incisions were made in each of the twenty rats, which were divided randomly into two groups of ten. After 3 days, cryosurgery with liquid nitrogen was performed in one of incisions. The rats' samples were then collected, cut and stained to conduct histopathological examination, to assess the local angiogenesis in differing moments and situations. It was possible to demonstrate that cryosurgery, in spite of promoting cell death and accentuated local inflammation soon after its application, induces quicker cell proliferation in the affected tissue and maintenance of this rate in a second phase, than in tissue healing without this procedure. These findings, together with the knowledge that there is a direct relationship between mononuclear cells and neovascularization (the development of a rich system of new vessels in injury caused by cold), suggest that cryosurgery possesses angiogenic stimulus, even though complete healing takes longer to occur. The significance level for statistical tests was 5% (p<0,05).