Co-occurrence pulmonary haemosiderosis with coeliac disease in child

Idiopathic pulmonary haemosiderosis (IPH) is a rare and serious disorder in children of unknown aetiolopathogeny. Association of IPH and coeliac disease (CD) is even rarer. Immunological origin of IPH is now well accepted. We report the case of an 11-year-old female admitted for evaluation of recurrent streaky haemoptysis that had been evolving over the previous 9 months. Physical examination revealed weight loss with normal weight, but there was cutaneous and mucosal pallor due to severe anaemia (haemoglobin 4.6g/dl). The chest X-rays showed unilateral alveolo-intertitial infiltrate. Broncho-alveolar lavage revealed 70% haemosiderin-laden macrophages. The diagnosis of IPH was made. Since severe anaemia is disproportionate to radiologic findings, searching associated CD was performed and then confirmed by biological and histological examinations. A gluten-free diet was initiated. Evolution was favourable. Looking for especially CD in IPH should be systematic, even in the absence of gastrointestinal symptoms.     

Microenvironmental hypoxia orchestrating the cell stroma cross talk, tumor progression and antitumor response

Hypoxia, a common feature of solid tumors and one of the hallmarks of tumor microenvironment, favors tumor survival and progression. Although hypoxia has been reported to play a major role in the acquisition of tumor resistance to cell death, the molecular mechanisms that control the survival of hypoxic cancer cells and the role of hypoxic stress in shaping the cross talk between immune cells and stroma components are not fully elucidated. Recently, several lines of investigation are pointing to yet another ominous outcome of hypoxia in the tumor microenvironment involving suppression of antitumor immune effector cells and enhancement of tumor escape from immune surveillance. Although the identification of tumor-associated antigens provided a new arsenal of approaches to enhance antigen-specific response, the immunotherapy approaches that are currently used in the clinic have only limited success. In fact, tumor stroma components including hypoxia are engaged in an active molecular cross talk that has serious implications for immunological recognition of tumor in shaping the microenvironment. In this review, we will focus on the impact of hypoxia on the regulation of the antitumor response and the subsequent tumor progression. We will also in particular discuss data that indicate that manipulation of hypoxic stress may represent an innovative strategy for a better immunotherapy of cancer.     

Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene family

Toll-like receptors (TLRs) are considered an essential component of the innate immune system, initiating inflammatory responses following infection of the host. Humans have 10 functional TLRs, differing in their subcellular distributions and the microbial agonists they sense. The phylogenetically conserved TLR1-2-6 family is unique in that TLR1 and TLR6 form heterodimers with TLR2 to mediate signalling in response to agonists. Epidemiological genetic studies have identified several TLR variants that appear to influence susceptibility to infectious diseases, but the functional consequences of which remain largely unknown. Here, we assessed the functional impact of the TLR1-2-6 variants with altered amino acid sequences segregating naturally in the human population. We used an NF-κB reporter assay in TLR-transfected human embryonic kidney 293T cells stimulated with the corresponding TLR agonists. We found that among the 41 naturally occurring variants with amino acid alterations identified in the TLR1-2-6 family, 14 of them (five TLR1, four TLR2, and five TLR6 variants) displayed marked impairment of NF-κB activation. Most of these variants are present at very low population frequencies and are population-specific. These observations suggest that rare, nonsynonymous TLR mutations are likely to have deleterious effects on immune responses and may therefore contribute to complex susceptibility to infection at the population level.     

Peritoneal amyloidosis: unusual localization of gastrointestinal amyloidosis

Amyloidosis is a rare disease that results from the extracellular deposition of amorphous fibrillar protein. It is usually observed in a systemic form. Gastrointestinal involvement is frequent but peritoneal localization is unusual. A 43-year-old male was investigated for nephritic colic. Morphologic explorations revealed small intestine agglomerans in the periumbilical region, infiltration of peritoneal fat and multiple coelio-mesenteric lymph nodes. There were no clinical or biological abnormalities and endoscopic examinations were normal. The patient then underwent an exploratory laparoscopy. Macroscopically false membranes were seen throughout the peritoneum and small bowel without ascites. Anatomopathologic examination diagnosed peritoneal amyloidosis. After several investigations a diagnosis of a primary peritoneal amyloidosis was confirmed. The patient was treated with melphalan and prednisone with a favorable outcome. Our case illustrates a particular presentation of peritoneal amyloidosis. Despite improved imaging methods, peritoneal biopsy remains essential for diagnosis.     

Evidence of human papillomavirus in the placenta

Human papillomavirus (HPV) is an epitheliotropic virus typically infecting keratinocytes but also possibly epithelial trophoblastic placental cells. In the present study, we set out to investigate whether HPV can be recovered from transabdominally obtained placental cells to avoid any confounding contamination by HPV-infected cervical cells. Thirty-five placental samples from women undergoing transabdominal chorionic villous sampling were analyzed, and we detected HPV-16 and HPV-62 in 2 placentas. This study suggests that HPV infection of the placenta can occur early in pregnancy. The overall clinical implication of these results remains to be elucidated.     

Giant hydatid lung cysts: About two paediatric cases

Cystic echinococcosis, which commonly starts during childhood or adolescence, is a serious problem of public health in Tunisia. The resulting large cysts in the lung are a special clinical entity called giant hydatid cysts. Herein we present two paediatric cases of this rare entity. In the first case a fourteen-year-old boy presented with chest pain, thoracic deformation, weight loss and dyspnea revealing two giant hydatid cysts of the upper and the lower lobes of the right lung. In the second case, a seven-year-old girl presented with chest pain, dyspnea, fever and episodes of suffocation revealing a giant hydatid cyst of the right upper lobe of the lung.The three giant cysts were non-complicated, they were treated by cystotomy and capitonnage without post-operative complications and without recurrence of the disease on follow-up.