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Infantile bullous pemphigoid with "string of pearls sign"
Get PDFBullous pemphigoid (BP) is an immune mediated bullous disease that is manifested by urticarial plaques with superimposed subepidermal blisters and significant pruritus. It is generally found in the elderly, but is rare in the pediatric population. A 5-month-old girl previously diagnosed with hand-foot-mouth disease was examined in our dermatology department owing to vesicles and bullae, initially located to the hands and feet, which progressed with new lesions. Tense vesicles and bullae distributed in an annular string of pearls pattern on the abdomen and facial and cervical regions were noted. Histologic and immunologic findings were consistent with the diagnosis of infantile BP. Disease control was obtained with oral prednisolone and dapsone; the patient was still in clinical remission 6 months after treatment cessation. The differential diagnosis of the clinical presentation of the lesions in our patient is of note, given that this blistering pattern is frequently reported in association with linear IgA bullous dermatosis.info:eu-repo/semantics/publishedVersio
Colon carcinoma staging by endoscopic ultrasonography miniprobes
Get PDFBACKGROUND AND OBJECTIVES:
Due to the increasing use of endoscopic techniques for colon cancer resection, pretreatment locoregional staging may gain critical interest. The use of endoscopic ultrasonography (EUS) miniprobes in this context has been seldom reported. Our aim was to determine the accuracy of EUS miniprobes for colon cancer staging.
MATERIALS AND METHODS:
Forty patients with colon cancer (2 in the cecum, 9 in the ascending colon, 5 in the transverse colon, 5 in the descending colon, and 19 in the sigmoid colon) were submitted to staging using 12 MHz EUS miniprobes. EUS and the anatomopathological results were compared with regard to the T and N stages. It was assessed if the location, longitudinal extension, or circumferential extension of the tumor had any influence on the accuracy in EUS staging.
RESULTS:
Tumor staging was feasible in 39 (98%) patients except in one case with a stenosing tumor (out of 6). Globally, T stage was accurately determined in 88% of the cases. In the assessment of the presence or absence of lymph node metastasis, miniprobes presented an accuracy of 82% with a sensitivity of 67%. These results were neither affected by the location nor by the longitudinal or circumferential extension of the tumor.
CONCLUSIONS:
EUS miniprobes may play an important role in assessing T and N stages in colon cancer and may represent an incentive to the research of new therapeutic areas for this disease.info:eu-repo/semantics/publishedVersio
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease
Get PDFMutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the literature. However, small deletions (<1 MB) affecting almost exclusively EBF3 are not commonly reported. We performed array comparative genomic hybridization (aCGH) (Agilent 180K) and quantitative PCR analysis in a female patient with intellectual disability. A clinical comparison between our patient and overlapping cases reported in the literature was also made. The patient carries a de novo 600 Kb deletion at 10q26.3 affecting the MGMT, EBF3, and GLRX genes. The patient has severe intellectual disability, language impairment, conductive hearing loss, hypotonia, vision alterations, triangular face, short stature, and behavior problems. This presentation overlaps that reported for patients carrying EBF3 heterozygous point mutations, as well as literature reports of patients carrying large 10qter deletions. Our results and the literature review suggest that EBF3 haploinsufficiency is a key contributor to the common aspects of the phenotype presented by patients bearing point mutations and indels in this gene, given that deletions affecting the entire gene (alone or in addition to other genes) are causative of a similar syndrome, including intellectual disability (ID) with associated neurological symptoms and particular facial dysmorphisms.FCT—Fundação para a Ciência e a Tecnologia within the projects and scholarships (PIC/IC/83026/2007, PIC/IC/83013/2007, SFRH/BD/90167/2012). This article has been developed under the scope of the project NORTE-01-0145-FEDER-000013, supported by the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (FEDER)info:eu-repo/semantics/publishedVersio
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
Get PDFThe biogenesis of the multi-subunit vacuolar-type H+-ATPase (V-ATPase) is initiated in the endoplasmic reticulum with the assembly of the proton pore V0, which is controlled by a group of assembly factors. Here, we identify two hemizygous missense mutations in the extracellular domain of the accessory V-ATPase subunit ATP6AP2 (also known as the [pro]renin receptor) responsible for a glycosylation disorder with liver disease, immunodeficiency, cutis laxa, and psychomotor impairment. We show that ATP6AP2 deficiency in the mouse liver caused hypoglycosylation of serum proteins and autophagy defects. The introduction of one of the missense mutations into Drosophila led to reduced survival and altered lipid metabolism. We further demonstrate that in the liver-like fat body, the autophagic dysregulation was associated with defects in lysosomal acidification and mammalian target of rapamycin (mTOR) signaling. Finally, both ATP6AP2 mutations impaired protein stability and the interaction with ATP6AP1, a member of the V0 assembly complex. Collectively, our data suggest that the missense mutations in ATP6AP2 lead to impaired V-ATPase assembly and subsequent defects in glycosylation and autophagy.This work has been supported by the ATIP-Avenir program, the Fondation Bettencourt-Schueller (Liliane Bettencourt Chair of Developmental Biology), state funding by the Agence Nationale de la Recherche under the Investissements d’avenir program (grant no. ANR-10-IAHU-01), and a NEPHROFLY grant (no. ANR-14-ACHN-0013) to M. Simons. This research was also supported by an Agence Nationale de la Recherche grant (no. SOLV-CDG) to F. Foulquier and a NUTRISENSPIK grant (no. ANR-16-CE14-0029) to G. Panasyuk. G. Matthijs received support from the European Union’s Horizon 2020 research and innovation program under the ERA-NET Cofund action (grant no. 643578); the research was funded by the Research Foundation (FWO, Flanders; EURO-CDG-2 project). F. Folquier, G. Matthijs, and R. Péanne belong to LIA GLYCOLAB4CDG (International Associated Laboratory), funded by CNRS (France) and FWO. R. Péanne is a postdoctoral researcher (Pegasus Marie Curie Fellow) of the FWO. T.D. Bird and W.H. Raskind receive support from the National Institutes of Health (grant no. R01NS069719) and the Department of Veterans Affairs. This work is supported by National Funds through the Fundação para a Ciência e a Tecnologia (Portuguese national funding agency for science, research and technology) in the frameworks of the UID/Multi/00215/2013 project–Unit for Multidisciplinary Research in Biomedicine–UMIB/ICBAS/UP.info:eu-repo/semantics/publishedVersio
Interventional Pain Management in Multidisciplinary Chronic Pain Clinics: A Prospective Multicenter Cohort Study with One-Year Follow-Up
Get PDFBackground:
Interventional Pain Management (IPM) is performed in multidisciplinary chronic pain clinics (MCPC), including a range of invasive techniques to diagnose and treat chronic pain (CP) conditions. Current patterns of use of those techniques in MCPC have not yet been reported.
Objective:
We aimed to describe quantitatively and qualitatively the use of IPM and other therapeutic procedures performed on-site at four Portuguese MCPC.
Methods:
A prospective cohort study with one-year follow-up was performed in adult patients. A structured case report form was systematically completed at baseline and six and 12 months.
Results:
Among 808 patients referred to the MCPC, 17.2% had been prescribed IPM. Patients with IPM were on average younger and had longer CP duration and lower levels of maximum pain and pain interference/disability. The three main diagnoses were low back pain (n = 28), postoperative CP, and knee pain (n = 16 each). From 195 IPM prescribed, nerve blocks (n = 108), radiofrequency (n = 31), and viscosupplementation (n = 22) were the most prevalent. Some IPM techniques were only available in few MCPC. One MCPC did not provide IPM.
Conclusions:
IPM are seldom prescribed in Portuguese MCPC. Further studies on IPM safety and effectiveness are necessary for clear understanding the role of these techniques in CP management.info:eu-repo/semantics/publishedVersio
Resposta ao risco de complicações associadas à biópsia trantorácica por tomografia computorizada
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Analysis of the influence of the podalic support in face radiographies of the knees in load
Get PDFIntrodução – A articulação do joelho é das mais complexas do corpo humano e das mais afetadas pela osteoartrose uma vez que sustenta a maior parte do peso corporal. As alterações do alinhamento dos seus componentes podem conduzir ao desequilíbrio biomecânico e promover a redução do espaço articular. Apesar de outras modalidades de imagem serem utilizadas, neste contexto a radiologia convencional constitui, ainda, um instrumento indispensável na avaliação imagiológica do joelho. Contudo, não é consensual qual o protocolo mais adequado para a sua avaliação. Objetivos – O objetivo principal deste estudo centrou-se na análise da influência do apoio podálico, bi ou mono, na imagem radiográfica resultante da incidência de face do joelho em carga. Material e métodos – Realizou-se um estudo institucional, observacional, transversal e retrospetivo, incidindo sobre indivíduos, adultos, submetidos a um exame radiográfico de face dos joelhos em carga, com apoio bipodálico e monopodálico no mesmo episódio de exame. Foram aplicadas técnicas de medição do espaço articular e do ângulo femorotibial em todas as imagens recolhidas e comparadas as medições entre as imagens com apoio monopodálico e bipodálico. Resultados – A amostra foi composta por 30 indivíduos (63,3% do género feminino) com uma média de idades de 60,9 anos (±10,4 anos). A partir desta amostra foram constituídos dois grupos, um composto pelos joelhos direitos (n=21) e o outro pelos joelhos esquerdos (n=27). O espaço articular do compartimento medial apresentou-se como o mais diminuído em ambos os grupos. Comparando as médias das medições do espaço articular nas imagens adquiridas com apoio monopodálico e bipodálico observaram-se diferenças com significância estatística quer no joelho direito (p<0,001) quer no esquerdo (p<0,001). Observaram-se ainda diferenças na amplitude do ângulo femorotibial entre as imagens com apoio mono e bipodálico. Conclusão – Os resultados obtidos apontam para que a incidência de face em carga do joelho realizada com apoio monopodálico promove uma redução do espaço articular do compartimento afetado e, consequentemente, o aumento do espaço articular do compartimento contralateral.ABSTRACT: Introduction – The knee joint is one of the most complex of the human body and most affected by osteoarthritis since it sustains most of the body weight. The modifications of the alignment of its components can lead to biomechanical imbalance and promote the joint space reduction. Although other imaging modalities are used, in this context, conventional radiology is still an indispensable instrument in the knee imaging evaluation. However, it is not consensual which protocol is most appropriate for its evaluation. Aim – The main objective of this study was centered on the osteoarthrosis, bi or mono, on the radiographic image resultant of the incidence of the face of the knee in weight-bearing. Methods – An institutional, observational, transversal and retrospective study was conducted, focusing on individuals, adults, subjected to a radiographic exam of the face of the knee in weight-bearing, with bipodal and monopodal support in the same examination episode. Measurement techniques of the joint space and femorotibial angle were applied to all collected images and the measurements were compared between images with monopodal and bipodal support. Results – The sample consisted of 30 subjects (63.3% female) with a mean age of 60.9 years (±10.4 years). From this sample two groups were constituted, one consisting of right knees (n=21) and the other by left knees (n=27). The joint space of the medial compartment was presented as the most decreased in both groups. Comparing the average of the measurements of joint space on the images acquired with mono and bipodal support, statistically significant differences were observed both in the right knee (p<0.001) and the left (p<0.001). Differences in the range of femorotibial angle were also observed between images with mono and bipodal support. Conclusion – The results obtained indicate that the incidence of the face of the knee with monopodal weight-bearing, promotes a reduction in the articular space of the affected compartment consequently increasing the contralateral joint space compartment.info:eu-repo/semantics/publishedVersio
The risk of disabling, surgery and reoperation in Crohn's disease - A decision tree-based approach to prognosis
Get PDFINTRODUCTION:
Crohn's disease (CD) is a chronic inflammatory bowel disease known to carry a high risk of disabling and many times requiring surgical interventions. This article describes a decision-tree based approach that defines the CD patients' risk or undergoing disabling events, surgical interventions and reoperations, based on clinical and demographic variables.
MATERIALS AND METHODS:
This multicentric study involved 1547 CD patients retrospectively enrolled and divided into two cohorts: a derivation one (80%) and a validation one (20%). Decision trees were built upon applying the CHAIRT algorithm for the selection of variables.
RESULTS:
Three-level decision trees were built for the risk of disabling and reoperation, whereas the risk of surgery was described in a two-level one. A receiver operating characteristic (ROC) analysis was performed, and the area under the curves (AUC) Was higher than 70% for all outcomes. The defined risk cut-off values show usefulness for the assessed outcomes: risk levels above 75% for disabling had an odds test positivity of 4.06 [3.50-4.71], whereas risk levels below 34% and 19% excluded surgery and reoperation with an odds test negativity of 0.15 [0.09-0.25] and 0.50 [0.24-1.01], respectively. Overall, patients with B2 or B3 phenotype had a higher proportion of disabling disease and surgery, while patients with later introduction of pharmacological therapeutic (1 months after initial surgery) had a higher proportion of reoperation.
CONCLUSIONS:
The decision-tree based approach used in this study, with demographic and clinical variables, has shown to be a valid and useful approach to depict such risks of disabling, surgery and reoperation.This work was funded by GEDII - Grupo de Estudo da Doença Inflamatória Intestinal, for data base maintenance. This work was partially developed under the scope of project NanoStima (NORTE-01-0145-FEDER-000016), which is financed by the North Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement, and through the European Regional Development Fund (ERDF). This article was supported by ERDF through the operation POCI-01-0145-FEDER-007746 funded by the Programa Operacional Competitividade e Internacionalização - COMPETE2020 and by National Funds through FCT - Fundação para a Ciência e a Tecnologia within CINTESIS, R&D Unit (reference UID/IC/4255/2013). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.info:eu-repo/semantics/publishedVersio
Angiogenesis in NSCLC: is vessel co-option the trunk that sustains the branches?
Get PDFThe critical role of angiogenesis in tumor development makes its inhibition a valuable new approach in therapy, rapidly making anti-angiogenesis a major focus in research. While the VEGF/VEGFR pathway is the main target of the approved anti-angiogenic molecules in NSCLC treatment, the results obtained are still modest, especially due to resistance mechanisms. Accumulating scientific data show that vessel co-option is an alternative mechanism to angiogenesis during tumor development in well-vascularized organs such as the lungs, where tumor cells highjack the existing vasculature to obtain its blood supply in a non-angiogenic fashion. This can explain the low/lack of response to current anti-angiogenic strategies. The same principle applies to lung metastases of other primary tumors. The exact mechanisms of vessel co-option need to be further elucidated, but it is known that the co-opted vessels regress by the action of Angiopoietin-2 (Ang-2), a vessel destabilizing cytokine expressed by the endothelial cells of the pre-existing mature vessels. In the absence of VEGF, vessel regression leads to tumor cell loss and hypoxia, with a subsequent switch to a neoangiogenic phenotype by the remaining tumor cells. Unravelling the vessel co-option mechanisms and involved players may be fruitful for numerous reasons, and the particularities of this form of vascularization should be carefully considered when planning anti-angiogenic interventions or designing clinical trials for this purpose. In view of the current knowledge, rationale for therapeutic approaches of dual inhibition of Ang-2 and VEGF are swiftly gaining strength and may serve as a launchpad to more successful NSCLC anti-vascular treatments.info:eu-repo/semantics/publishedVersio