Manejo endoscópico de fístulas del seno piriforme. Reporte de dos casos / Endoscopic management of piriform sinus fistula. Two cases report

Resumen Caso 1: Femenino de cuatro años de edad con absceso cervical izquierdo recurrente por fístula del seno piriforme izquierdo tratada finalmente con electrocoagulación endoscópica sin recidivas en más de siete meses. Caso 2: Masculino de seis años de edad con absceso cervical izquierdo recurrente por fístula del seno piriforme izquierdo tratado con electrocoagulación endoscópica sin recidivas en más de 6 meses. Discusión: Las fistulas del seno piriforme son poco comunes, resueltas en forma quirúrgica con amplias disecciones cervicales y en ocasiones con hemitiroidectomías. No suelen sospecharse sino hasta la recurrencia del cuadro. Aunque no todos los abscesos cervicales son por fístulas del seno piriforme, recomendamos descartarla en casos de recidiva sobre todo en el lado izquierdo del cuello; acompañando el drenaje con exploración endoscópica. De confirmarse el diagnóstico se ofrece tratamiento por electrocoagulación en la misma intervención con mejores resultados al evitar los riesgos que implica la resección extensa del tratamiento convencional. En nuestros casos usamos endoscopía flexible y electrocoagulación con resultados superiores en relación con el tratamiento quirúrgico convencional. Limitaciones: Solo se trata de dos casos, pero corresponden a una entidad poco frecuente. Valor: Se muestra como alternativa el tratamiento endoscópico con electrocoagulación con mejores resultados en relación con el manejo tradicional para los casos de fístula del seno piriforme en niños.

Abstract Case 1: A 4-year-old female with a recurrent left cervical abscess due to a left piriform sinus fistula finally treated with endoscopic electrocoagulation without recurrences for more than 7 months. Case 2: 6-year-old male with recurrent left cervical abscess due to left piriform sinus fistula treated with endoscopic electrocoagulation without recurrences for more than 6 months. Discussion: Piriform sinus fistulas are rare and are surgically corrected with extensive cervical dissections and occasionally hemithyroidectomies. They are not usually noticed as such until the recurrence. Although not all cervical abscesses are due to piriform sinus fistulas, we recommend ruling out in cases of recurrence, especially on the left side of the neck, accompanying by drainage with endoscopic exploration. If the suspicion is confirmed, electrocoagulation treatment is offered in the same intervention with better results by avoiding the risks involved in an extensive resection with conventional treatment. In our cases we use flexible endoscopy and electrocoagulation with better results compared to conventional surgical treatment. Limitations: These are only two cases, but they are rare. Value: Endoscopic treatment with electrocoagulation is shown as an alternative with better results in relation to traditional management for cases of piriform sinus fistula in children.

[Feasibility and benefits of training to screen for chronic obstructive pulmonary disease]. / Faisabilité et bénéfices de la formation au dépistage du trouble ventilatoire obstructif.

INTRODUCTION: Though still under-diagnosed, chronic obstructive pulmonary disease (COPD) currently affects nearly 3.5 million people in France. The present study presents the results of continuing medical education sessions on COPD screening by electronic mini-spirometry. METHODS: From April 2013 to December 2015, the sessions involved 73 health professionals. The study analysed three questionnaires administered before, after, and long after sessions led by experts within a professional associative network. RESULTS: The sessions proved efficient in increasing the participants' theoretical knowledge. It increased the percentage of correct answers regarding the nature of COPD (90 % vs. 81%), the functions, features, and outputs of mini-spirometers, and the treatment recommendations. The sessions led to non-negligible changes in everyday medical practice regarding the acquisition of a mini-spirometer (+13 devices), the presentation of COPD to the patients (+33 practitioners), the dialogue on tobacco use (+32 practitioners), vaccination (+33 practitioners), and compliance with the treatment recommendations (+43 practitioners). CONCLUSION: These results encourage both holding and following up such sessions. The specialized professional environment ensures knowledge updates and offers subsequent assistance. Further improving these sessions will increase their benefits in terms of diagnosis, treatment, and health economy.

[Isolated bilateral macrostomia: case report and literature review]. / Macrostomía bilateral aislada: a propósito de un caso y revisión de la literatura.

INTRODUCTION: The macrostomia is a facial abnormality also called transverse facial cleft or Tessier cleft number 7. Macrostomia is a rare condition with an incidence from 1/80,000 to 1/300,000 live births. The left commisure is more commonly affected. Bilateral macrostomia is extremely rare, with only 10 to 20% of all cases of macrostomia, and 50% of bilateral cases are associated with different syndromes. To date just over 20 cases of isolated bilateral macrostomia have been described in the literature. CLINICAL OBSERVATION: We report the case of a patient with isolated bilateral macrostomia solved by surgery and with good aesthetic and functional results. COMMENTS: The treatment of bilateral macrostomia is surgical and should be done early. Although there are many techniques, the key is to recreate a new and correct commisure through a good reorientation of the orbicularis oris.

INTRODUCCION: La macrostomía es una anomalía facial denominada también fisura facial transversa o fisura tipo 7 de Tessier. Su aparición es muy rara, con una incidencia estimada de 1/80.000 a 1/300.000 nacidos vivos, siendo la forma unilateral izquierda la más frecuente. La macrostomía bilateral es extremadamente infrecuente, con solo 10 a 20% de todos los casos de macrostomía, y de estos el 50% se asocian a diferentes síndromes. Hasta la fecha solo se han descrito en la literatura poco más de 20 casos de macrostomía bilateral aislada. OBSERVACION CLINICA: Presentamos el caso de una paciente con macrostomía bilateral aislada resuelto mediante intervención quirúrgica y con buen resultado estético y funcional. COMENTARIOS: El tratamiento de la macrostomía bilateral es quirúrgico y debe realizarse precozmente. Aunque existen muchas técnicas, lo fundamental es recrear una nueva y correcta comisura a través de una buena reorientación del músculo orbicular de los labios.

Validation of the HIV Tropism Test TROCAI Using the Virological Response to a Short-Term Maraviroc Monotherapy Exposure.

TROCAI is a phenotypic tropism test developed using the virological response to a short-term exposure to maraviroc monotherapy (Maraviroc Clinical Test [MCT]). It was found that with TROCAI, a cutoff of <0.5% of dual/mixed viruses was needed to predict R5 HIV tropism. Here, we have validated TROCAI, using this cutoff, in a new cohort of 42 patients, finding a very high concordance between TROCAI and MCT (98%), and a good concordance (71 to 87%) with other genotypic/phenotypic methods.

[Effects of fine particulate matter from on bronchial epithelial cells]. / Effets des particules fines sur les cellules épithéliales bronchiques.

INTRODUCTION: Ambient air contains a variety of pollutants including solid particles. Human bronchial epithelial cells (HBEC) play a key role following inhalation of these toxic particles. In a cell culture system of HBEC, we investigated the effects of several fractions of Lyons air-derived particles on cell viability/proliferation and production of the inflammatory mediators IL-8 and TGF-ß. METHODS: Air particles were collected in Lyon (France) by filtration of the air and impaction on filters located on a tapered element oscillating microbalance. Several diameter-based fractions of particles were prepared. HBEC were then exposed to different concentrations of these fractions. RESULTS: HBEC survival was not altered after 48hours of culture in the presence of particles regardless of their diameter and concentration. A dose-dependent inhibitory effect on cell growth was observed for all fractions. The particles caused an increase of both TGF-ß and Il-8 protein levels as a function of their diameters and/or concentrations. CONCLUSION: Air-derived particle fractions exhibit both an inhibitory effect on cell proliferation and a pro-inflammatory activity on HBEC.

Phenotype and Polyfunctional Deregulation Involving Interleukin 6 (IL-6)- and IL-10-Producing Monocytes in HIV-Infected Patients Receiving Combination Antiretroviral Therapy Differ From Those in Healthy Older Individuals.

BACKGROUND: Despite the relevance of monocytes as promoters of the inflammatory response, whether human immunodeficiency virus (HIV) infection induces premature age-related changes to the phenotype and function of monocytes or whether these alterations are different and/or specifically driven by HIV remains to be mechanistically determined. METHODS: We assayed the activation phenotype and the responsiveness in vitro to Toll-like receptor (TLR) agonists in classical, intermediate, and nonclassical subsets of monocytes by assessing intracellular interleukin 1α (IL-1α), IL-1ß, interleukin 6 (IL-6), interleukin 8, tumor necrosis factor α, and interleukin 10 (IL-10) production in 20 HIV-infected patients receiving combination antiretroviral therapy (cART) and 2 groups of uninfected controls (20 age-matched young individuals and 20 older individuals aged >65 years). RESULTS: HIV-infected patients showed a more activated phenotype of monocytes than older controls. Regarding functionality, under unstimulated conditions HIV-infected patients showed a higher percentage of classical monocytes producing IL-6 and IL-10 than control subjects. The percentage of cells with production of multiple cytokines (polyfunctionality), including IL-10, in response to TLR agonists was greater among HIV-infected patients than among control subjects. CONCLUSIONS: Inflammatory alterations associated with monocytes during HIV infection are different from those in aging individuals. This monocyte dysfunction, mainly characterized by high levels of IL-6- and IL-10-producing monocytes, may have clinical implications in HIV-infected patients that are different from those in aging individuals.

[COPD: An early disease]. / La BPCO : une maladie qui commence précocement.

This general review deals with the mechanisms which underlie the genetic factors in COPD. Many cellular and biochemical mechanisms occur in bronchial inflammation. We present the experimental models of COPD, insisting on the importance of oxydative stress, and on recent knowledge about the lung microbiome. Starting from this pathophysiology basis, we show how various genetic targets are able to interfere with the disease model. Thanks to these genetic targets, new markers in exhaled breath condensates and new drug targets are rising.

[Aspirin hypersensitivity: characteristics and diagnostic approach]. / Intolérance à l'aspirine : caractéristiques et éléments diagnostiques.

INTRODUCTION: In routine medical practice, the diagnosis of aspirin hypersensitivity (AH) remains difficult. No clinical feature or biomarker is available to reliably confirm this diagnosis and oral provocation tests (OPT) are rarely performed. AIM: To compare asthmatics with and without AH. METHOD: The clinical characteristics of 21 asthmatics with and 24 without AH respectively were determined. AH was defined by a positive OPT. A full blood count was done before and 24 hours after the OPT. RESULTS: The medical history was associated with a weak sensitivity (52%) and a good specificity (96%) for assessing the diagnosis of AH. There was a higher prevalence of AH in women, and a higher frequency of allergic rhinitis in AH, but no characteristic was useful to facilitate the diagnosis of AH in asthmatic patients. Our results demonstrate higher values of platelets in AH patients. Following OPT, in AH patients only, a decrease in blood eosinophils and an increase in neutrophils was observed. CONCLUSIONS: These results confirm that the diagnosis of AH is challenging, with the history having only weak sensitivity. The observation that fluctuations in eosinophils and neutrophils occur following OPT in AH patients only warrants further investigations and suggests a rapid pro-inflammatory role for aspirin.

Increased risk of non-AIDS-related events in HIV subjects with persistent low CD4 counts despite cART in the CoRIS cohort.

The aim was to analyze clinical complications in HIV-infected subjects who persistently maintain low CD4 levels despite virological response to cART in the Spanish CoRIS cohort. The main inclusion criteria were CD4 counts <200cells/mm(3) at cART-initiation and at least 2years under cART achieving a viral load <500copies/mL. Those patients with CD4 counts <250cells/mm(3) 2years after cART were classified as the Low-CD4 group, and clinical events were collected from this time-point. Poisson regression models were used to calculate incidence rate ratios of death, AIDS-defining events, serious non-AIDS-defining events (NAE) and of each specific NAE category (non-AIDS-defining malignancies (non-ADM), cardiovascular, kidney- and liver-related events). Of 9667 patients in the cohort, a total of 1128 met the criteria and 287 (25.4%) were classified in the Low-CD4 group. A higher risk of death (aIRR: 4.71; 95% CI: 1.88-11.82; p-value=0.001) and of non-ADM were observed in this group (aIRR: 2.23; 95% CI: 1.07-4.63; p=0.03). Our results stress the need to control accelerated aging in this population to counter their increased risk of non-AIDS-defining diseases, particularly cancer, and are consistent with the concept that clinical complications are potentially affected by genetics and lifestyle.

[Preaxial polydactyly of the hand: 15 years of experience]. / Polidactilia preaxial de la mano: experiencia de 15 años.

INTRODUCTION: Preaxial polydactyly is one of the most common congenital malformations of the hand. The treatment is surgical and should be done early, between 6 and 12 months old. The purpose of this paper is to review our experience in terms of casuistry, treatment and functional and aesthetic results of duplicity of thumb, since 2000 until today. MATERIAL AND METHODS: A retrospective study of patients with diagnosis of preaxial polydactyly from 2000 to january 2016 was performed. RESULTS: Thirty patients with duplicity of thumb and thirty one bifid thumbs were diagnosed. No difference was found in terms of gender. The right hand was the most affected. Wassel type IV was the most common, followed by type II. Age at time of surgery had a median and mode of 12 months. All were treated surgically, using the model of preservation of the dominant thumb in 97% of the cases. According to Tada system, our postoperative results were good in 26 cases (83.8%). Our most frequent complication was slight radial clinodactyly, which was found in 5 cases. CONCLUSIONS: Preaxial polydactyly of the hand is one of the most common congenital malformations. It is usually unilateral and without gender predominance. Surgical treatment provides good results. The most common technique for reconstruction is the model of preservation of the dominant thumb. Clinodactyly is the most common complication after surgery, however its presence is more aesthetic than a functional problem.

INTRODUCCION: La polidactilia preaxial es una de las malformaciones congénitas más frecuentes de la mano. El tratamiento es quirúrgico y debe realizarse precozmente entre los 6 y 12 meses de edad. El propósito de este trabajo es revisar nuestra experiencia, en cuanto a casuística, tratamiento y resultados funcionales y estéticos de duplicidad de pulgar, desde el año 2000 hasta la actualidad. MATERIAL Y METODOS: Se realizó un estudio retrospectivo de los pacientes con el diagnóstico de polidactilia preaxial en el periodo de 2000 a enero de 2016. RESULTADOS: Se diagnosticaron 30 pacientes de duplicidad de pulgar y 31 pulgares bífidos. Sin diferencia en cuanto al sexo. La mano más afectada fue la derecha con 22 casos. El tipo IV de Wassel fue el más frecuente, seguido del tipo II. La edad en el momento de la cirugía tuvo una mediana y moda de 12 meses. Todos fueron tratados quirúrgicamente, el 97% siguiendo el modelo de conservación de pulgar dominante. De acuerdo al sistema publicado por Tada, nuestros resultados postoperatorios fueron buenos en 26 casos (83,8%). Nuestra complicación más frecuente fue la clinodactilia radial leve, que se encontró en 5 casos. CONCLUSIONES: La polidactilia preaxial de la mano es una de las malformaciones congénitas más frecuentes. Suele ser unilateral y sin predominio de sexo. El tratamiento quirúrgico ofrece buenos resultados. La técnica más fomentada para la reconstrucción es el modelo de conservación de pulgar dominante. La clinodactilia es la complicación más frecuente post-cirugía, no obstante su presencia es más un problema estético que funcional.

dsRNA induces apoptosis through an atypical death complex associating TLR3 to caspase-8.

Toll-like receptor 3 (TLR3) is a pattern-recognition receptor known to initiate an innate immune response when stimulated by double-stranded RNA (dsRNA). Components of TLR3 signaling, including TIR domain-containing adapter inducing IFN-α (TRIF), have been demonstrated to contribute to dsRNA-induced cell death through caspase-8 and receptor interacting protein (RIP)1 in various human cancer cells. We provide here a detailed analysis of the caspase-8 activating machinery triggered in response to Poly(I:C) dsRNA. Engagement of TLR3 by dsRNA in both type I and type II lung cancer cells induces the formation of an atypical caspase-8-containing complex that is devoid of classical death receptors of the TNFR superfamily, but instead is physically associated to TLR3. The recruitment of caspase-8 to TLR3 requires RIP1, and is negatively modulated by cellular inhibitor of apoptosis protein (cIAP)2-TNF receptor-associated factor (TRAF)2-TNFR-associated death domain (TRADD) ubiquitin ligase complex, which regulates RIP1 ubiquitination. Intriguingly, unlike Fas- or TRAILR-dependent death signaling, caspase-8 recruitment and activation within the TLR3 death-signaling complex appears not to be stringently dependent on Fas-associated with death domain (FADD). Our findings uncover a novel aspect of the molecular mechanisms involved during apoptosis induced by the innate immune receptor TLR3 in cancer cells.

[Physiopathology of aspirin intolerant asthma]. / Physiopathologie de l'asthme avec intolérance à l'aspirine. Concepts classiques et nouvelles voies métaboliques d'intérêt.

Aspirin-exacerbated respiratory disease (AERD) refers to the development of bronchoconstriction in individuals with asthma following the ingestion of aspirin. AERD affects up to 20 % of adults with asthma. At present, no reliable in vitro test is available to confirm the diagnosis. The confirmation of the diagnosis of AERD therefore depends on the response to challenge testing with aspirin. The pathogenesis of AERD is linked to abnormalities in arachidonic acid metabolism. Prior to exposure to aspirin, respiratory mucosal inflammation is the result of a cell infiltration, an overproduction of leukotrienes, prostaglandins D2, 5-oxo-eicosatetraenoic acid and an underproduction of lipoxins. After aspirin ingestion, patients with AERD synthesize excessive amounts of cysteinyl leukotrienes and prostaglandin metabolites involved in bronchoconstriction. New hypotheses concerning AERD pathogenesis have been added to the initial cyclooxygenase theory. These propose that AERD may be linked to the complement system, adenosine metabolism or angiotensin converting enzyme gene and IgE receptor gene polymorphisms.

[Single French centre retrospective analysis of local control after high dose radiotherapy with or without chemotherapy and local control for Pancoast tumours]. / Analyse rétrospective monocentrique française du contrôle local des cancers bronchiques non à petites cellules de l'apex après radiothérapie de haute dose avec ou sans chimiothérapie.

PURPOSE: Superior sulcus non-small cell lung cancer represents less than 5% of all lung cancers and is a challenge for the physicians because of clinical presentation, treatments related toxicities and poor prognosis. The aim of this preliminary retrospective report is to present outcomes of patients affected by a superior sulcus non-small cell lung cancer, treated by high dose radiotherapy (>60 Gy) with or with our chemotherapy. PATIENTS AND METHODS: All adult inoperable or unresectable patients (≥18 years) with a clinical and radiological diagnosis of superior sulcus non-small cell lung cancer treated in our department by radiotherapy with or without chemotherapy were retrospectively analysed. Primary endpoint was the local control. Overall survival, metastasis free survival and toxicity rates were also analysed and reported. RESULTS: From January 1999 to June 2009, 12 patients were treated by exclusive high-dose radiochemotherapy. Median age was 53 years (range: 33-64 years); mean follow-up time was 20 months (range: 2-75 months). Mean local control, overall survival and metastasis free survival were 20.2, 22 and 20 months, respectively. At the time of this analysis, seven patients died of cancer and three of them presented only a metastatic disease progression. One patient died of acute cardiac failure 36 months after the end of radiochemotherapy and was disease free. Treatment was well tolerated and any acute and/or late G3-4 toxicity was recorded (NCI-CTC v 3.0 score). CONCLUSION: This analysis confirms the interest of exclusive high-dose radiochemotherapy in treating inoperable superior sulcus non-small cell lung cancer patients, in achieving good local control and overall survival rates.

[Sarcoidosis and genetics]. / Sarcoïdose et génétique.

Familial features of sarcoidosis and observations in monozygotic twins affected by the condition suggest the presence of a genetic predisposition. Various genetic associations have been described with genes coding for proteins involved in immune regulation in particular at the level of interaction between T-lymphocyte and antigen presenting cell. We review the various genetic targets described with techniques ranging from classic human lymphocyte antigen genotype to genome wide linkage scans. The 6p21 region has been highlighted, which includes relevant genes such as MHC class II, BTNL2 and TNFα. These studies show that the genetics of sarcoidosis are complex, that patient sub-groups exist, which may explain some of the heterogeneity in the results of genetic studies and that the interactions between genetic and environmental factors remains to be elucidated.

[Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome]. / Pneumothorax itératifs et spontanés révélant un syndrome de Birt-Hogg-Dubé.

The Birt-Hogg-Dubé (BHD) syndrome is associated with cutaneous disorders including fibrofolliculomas and trichodiscomas, and also lung pneumatocysts and kidney tumours. The BHD syndrome occurs as a consequence of an autosomal dominantly inherited genodermatosis, linked to multiple germline mutations in the 14 exons of the BHD gene, mapped on 17p11.2 and encoding for folliculin (FLCN). The size and number of lung pneumatocysts are extremely variable and the cysts are surrounded by normal pulmonary tissue. In the absence of smoking lung function is usually unimpaired. The lung cysts are frequently complicated by the development of recurrent pneumothoraces. Treatment of pneumothorax in patients with the BHD syndrome is similar to the approach taken for patients with spontaneous pneumothorax. Lung cysts in the BHD syndrome are a rare cause of cystic pulmonary lesions. However, they must be systematically evaluated since kidney tumours occur in one third of patients. We report a case of classical BHD syndrome with specific cutaneous involvement, recurrent pneumothoraces complicating lung cysts, an exon 12 germline mutation on BHD gene and a familial history suggesting other related cases. This observation allows us to update this orphan disease, to consider BHD in the differential diagnosis of lung cysts and, above all, to highlight the high frequency and the prognostic significance of associated kidney tumours.

[Assessment of prognostic factors of thoracic synovial sarcoma]. / Evaluation des facteurs pronostiques du synovialosarcome thoracique.

INTRODUCTION: Synovial sarcoma is an uncommon tumour and thoracic involvement is rare and of varying location. Clinical characteristics are dominated by pain, with a slow progression over years. Pathological and immuno-histochemical characteristics are helpful in the diagnosis but a specific translocation between chromosomes X and 18 is crucial for confirmation. Extensive surgical resection is required for cure, combined with adjuvant radiotherapy in the presence of adverse prognostic factors. CASE REPORT: We report a case of synovial sarcoma of the chest wall, responsible for chronic local pain for several years, presenting as an acute pleuropneumonitis in a 21-year-old patient. In view of the large size of the tumour, associated with a high proliferation index (Ki-67), a surgical resection was performed, together with local adjuvant radiotherapy. CONCLUSION: This case report reviews synovial sarcoma and underlines the difficulties and requirements of both diagnostic strategy and therapeutic management. Among them, an initial systematic review of prognostic factors (tumour size, mitotic activity, proliferation index, SYT-SSX type fusion, histological grade) is crucial to determine the therapeutic options.

Development of the vermiform appendix inchildren from different age ranges

There is no precise anatomical trace that limits the vermiform appendix of the cecum in the newborn and in the child in the first years of life. The appendix presents a conical form, with an enlarged base and a narrow apex. The objective of the present work was to identify certain anatomical parameters, and to relate them chronologically to the different age groups in order to define when exactly the base of implantation of this organ in the cecum resembles the adult’s anatomy. Sixty-seven (67) ileocecal transition pieces were grouped according to the different age groups: Group A (18 pieces of newborns at term) – Group B (14 pieces of six months-old children) – Group C (13 pieces of 12 month-old children) – Group D (11 pieces of 24 month-old children) and Group E (11 pieces of adults). The point of contact of the ileum anti-mesenteric edge in the cecum was identified and the distance between this and the edges, right (d.r.e.i) and left (d.l.e.i.), of the appendix implantation was assessed. The results were demonstrated through the crossing of variables in the different age groups and the statistical significance level was considered for p < 0.05. From the sixty-seven (67) pieces, forty-seven (70.1%) were obtained from males and twenty (29.9%) from females. The average extension of the vermiform appendix length was 5.3 cm. The retro ileum position was predominant in the first year of life (groups A, B and C). The average of the variables according to the age group (groups A, B, C, D and E) was: D.L.E.I. = 0.0-0.0-0.5-2.0-2.5 cm respectively. D.R.E.I. = 1.1-1.0-1.3-2.3-2.8 cm respectively. DIAMETER of the BASE = 1.0-0.8-0.4-0.3-0.5 cm respectively. The crossing of the average values of the distances from the left margin of the appendix base to the ileum (d.l.e.i.) was performed in groups A, B, C and D with the average value in group E (adult)...

Homozygous variant rs2076530 of BTNL2 and familial sarcoidosis.

RATIONALE: Despite extensive studies, the pathogenesis of sarcoidosis is largely unknown. Although multiple environmental and putative infectious agents have been proposed, none was retained as a major contributor to the disease occurrence. Genetic predisposition to sarcoidosis was considered as a significant factor and numerous candidate genes have been reviewed. This last point was reinforced since the discovery of a pathogenic polymorphism (rs2076530 or G > A) of the BTNL2 gene, leading to an early truncation of the protein, which increases the relative risk of the disease. BTNL2 is known to act as a co-stimulatory molecule, inducing a negative signal to T-lymphocyte activation and the mutated gene is responsible for a truncated protein and disruption of membrane localization. OBJECTIVES: Our work attempted to confirm this observation in a highly penetrant familial form of sarcoidosis. RESULTS: In this family, the disease was diagnosed in 5 members through 3 generations. Despite individual clinical specificities, all displayed severe forms of the disease. Peripheral blood samples were collected from 3 patients and 2 additional healthy children of the fourth generation. Analysis of the BTNL2 gene confirmed the presence of the pathogenic variant of BTNL2 on both alleles (A/A homozygous genotype) in all subjects tested. CONCLUSIONS: Our data suggest that the absence of a membrane anchored BTNL2 protein may increase genetic susceptibility to sarcoidosis and familial occurrence of the disease. This observation assessed the putative pathogenic involvement of the rs2076530 variant of BTNL2 in the development of this granulomatosis disease.

[The Whim syndrome: a rare cause of diffuse bronchiectasis. Immune defect of CXCR4 and chronic bronchial suppuration]. / Le syndrome de Whim: une cause exceptionnelle de bronchiectasies diffuses.

Whim syndrome, an association of warts, hypogammaglobulinemia, recurrent bacterial infections and the retention of mature polymorphonuclear cells within the bone marrow is an orphan disease. It occurs due to a complex immune defect, mutation and/ or dysfunction of CXCR4, the natural receptor of stromal cell-derived factor 1 [SDF-1 or CXCL12], which is implicated in the control of bone marrow homing of precursor cells and lymphocyte trafficking. Recently described, this poorly recognized immune defect is often inherited as an autosomal dominant trait and is responsible for multiple respiratory infectious events and the development of extensive HPV-induced warts. We report the case of a 36 year old man, who had been under follow up for many years because of diffuse bronchiectasis, with frequent pulmonary infections and progressive lung function deterioration. Late identification of a CXCR4 gene mutation led to a better understanding of the pathophysiology of his condition, allowing the discussion of future therapeutic strategies and finally to test relatives for similar mutations.

[Pulmonary metastases from Abrikossoff's tumour. Transformation capability of a benign granular cell tumour]. / Métastases pulmonaires d'une tumeur d'Abrikossoff. Transformation ou potentiel évolutif d'une tumeur bénigne à cellules granuleuses.

INTRODUCTION: Abrikossoff's tumour or granular cell tumour is usually benign involving multiple anatomical sites, most frequently the head, neck and airways. Occasional observations of aggressive malignant tumours have been reported, associated with a poor prognosis. CASE REPORT: We report the case of a mammary Abrikossoff's tumour, initially considered benign and treated solely by local surgery. Seven years later the tumour was responsible for the development of sub-cutaneous and pulmonary metastases. Local surgery was again the only treatment given in the absence of evidence for the effectiveness of alternative treatment with chemotherapy or radiotherapy. CONCLUSION: This original observation reports the case of a benign granular cell tumour that underwent malignant transformation after an interval of 7 years as indicated by the clinical progress and the cellular proliferation index Ki-67.