Presacral ganglioneuroma in an 8-year-old child: case report,and literature review

Ganglioneuromas are benign tumors of the sympathetic nervous system, rarely found in the presacral region. In this study, we report the case of presacral ganglioneuroma in an 8-year-old girl, who complained of abdominal pain with diarrhea and abdominal distension. Ultrasound showed a large hypoechoic pelvic mass complicated by right ureter hydronephrosis. the CT and MRI confirm the presence of a presacral tissue mass with heterogeneous enhancement after contrast injection. The child underwent a complete surgical resection, and the anatomopathological study returned in favor of a ganglioneuroma. The presacral ganglioneuroma is an extremely rare tumor in that only twenty cases have been reported in the literature. 3 of which were less than 8-years-old. Through our case, we will review the epidemiological, clinical, radiological and therapeutic characteristics of this type of tumor.     

Cervical myelopathy involving os odontoideum with retro-odontoid cyst and atlanto-axial instability: A case report

Os odontoideum is an unusual anatomic variant of the dens of C2 defined as an independent ossicle separated from the axis; the etiology is a topic of debate, with investigative studies supporting congenital and traumatic origins, clinical manifestations vary from asymptomatic forms, underlying C1-C2 instability to compression of the spinal cord or vertebrobasilar ischemia. We report a case of a patient with a history of minor trauma 5 years ago, she suffered from neck pain. The clinical examination was normal. Radiological examination including X-ray, CT, and MRI showed cervical myelopathy involving os odontoideum with C1-C2 instability and compressive retro-odontoid cyst. Imaging has an important role in the management of os odontoideum, from diagnosis to therapy.     

Current and future therapies for targeting HER2 mutations in gastrointestinal cancer

Introduction: Gastrointestinal (GI) cancers altogether represent the most common cancer type. HER2 is found to be present in nearly all histologic types of GI cancers in variable degrees of expression. Over the last decade, substantial advances have been made in targeting HER2-positive cancers.

Areas covered: The present review summarizes the current progress and future directions for HER2 targeted therapies in GI cancers, including esophagogastric, pancreaticobiliary, and colon cancers. To date trastuzumab is the only anti-HER2 therapy approved for metastatic esophagogastric adenocarcinoma. Efforts are ongoing to expand the therapeutic role of HER2 to other GI cancers and overcome mechanisms of drug resistance. Novel agents and combinations are being tested in most HER2 positive GI cancers including early stage disease. These are of recent interest in colorectal cancer with studies indicating that HER2 overexpression might increase resistance to anti-EGFR therapy and may be potentially targeted.

Expert commentary: With the current ability to sequence tumors and detect genetic alterations, emphasis should be put on genomically-selected pan-tumor targeted therapies. HER2 is a perfect example of a promising drug target in GI cancers.     

John Goldman Fellowships for Future Science

The level of circulating platelet‐, erythrocyte‐, leucocyte‐ and endothelial‐derived microparticles detected by high‐sensitivity flow cytometry was investigated in 37 β‐thalassaemia major patients receiving a regular transfusion regimen. The phospholipid procoagulant potential of the circulating microparticles and the microparticle‐dependent tissue factor activity were evaluated. A high level of circulating erythrocyte‐ and platelet‐microparticles was found. In contrast, the number of endothelial microparticles was within the normal range. Platelet microparticles were significantly higher in splenectomized than in non‐splenectomized patients, independent of platelet count (P < 0·001). Multivariate analysis indicated that phospholipid‐dependent procoagulant activity was influenced by both splenectomy (P = 0·001) and platelet microparticle level (P < 0·001). Erythrocyte microparticles were not related to splenectomy, appear to be devoid of proper procoagulant activity and no relationship between their production and haemolysis, dyserythropoiesis or oxidative stress markers could be established. Intra‐microparticle labelling with anti‐HbF antibodies showed that they originate only partially (median of 28%) from thalassaemic erythropoiesis. In conclusion, when β‐thalassaemia major patients are intensively transfused, the procoagulant activity associated with thalassaemic erythrocyte microparticles is probably diluted by transfusions. In contrast, platelet microparticles, being both more elevated and more procoagulant, especially after splenectomy, may contribute to the residual thrombotic risk reported in splenectomized multi‐transfused β‐thalassaemia major patients.     

Epidemiological, therapeutic and evolutionary profiles in patients with lymph node tuberculosis

Tuberculosis remains a public health concern worldwide particularly in Third World countries. Lymph node (LN) tuberculosis is the most frequent extra lung localization. Because of modern transport and mass migration from the developing to the developed world, it is important for all clinicians to keep this diagnostic possibility in mind. Evaluate demographic characteristics, diagnosis approaches, therapeutic strategies and evolutionary aspects while treatment in patients with confirmed LN tuberculosis. Data were retrospectively analyzed in 69 patients collected in 2 health centers in Rabat over a period of 4 years. There was a female (70%) and a young age predominance of patients (31.4 year +/-13.1). The median duration between the onset of symptoms and diagnosis was long: 115 days (interquartile range 34-150 days) explicated by low Socioeconomic conditions (p< 0.05). The cervical LN were most frequently involved (85.5%). The confirmation was histological in 98.5%, bacterial in the liquid from puncture LN in 1.5% of cases. 48% of patients had received treatment according to the national guide of tuberculosis. Half of the patients had received prolonged treatment on average of 7 months and a half (7.3 month +/-1.3) because of the paradoxical response (PR) (p< 0.05). At the end of treatment, LN had returned to their normal size in 80% of patients, we noted residual nodes in 11.6%, and a scrofula in 8.6%. The delay of diagnosis of LN tuberculosis is still important, and the treatment is prolonged because of PR.     

A case of rheumatoid arthritis complicated by a chronic myeloid leukemia associated with pyoderma gangrenosum

Rheumatoid arthritis may be associated with an increased risk of hematological malignancy. Increased lympho-proliferative malignancy in rheumatoid arthritis is often described; however an increased risk of leukemia is not a common finding. A few cases of rheumatoid arthritis have been documented associated with chronic myeloid leukemia in the literature. We report a new case.Case presentationA 36-year-old Moroccan female diagnosed as rheumatoid arthritis eight years ago, was on remission under Methotrexate and prednisone. This therapy was stopped one year before her admission at our hospital because of thrombopenia and anemia. She had polyarthritis flare. The physical examination found splenomegaly, hepatomegaly, and skin lesions at the trunk and limbs. Peripheral blood findings, peripheral smear and bone marrow aspiration diagnosed myeloid leukemia in a blastic accelerated phase with negative Philadelphia chromosome. The skin lesions were diagnosed as pyoderma gangrenosum (skin biopsy). She received oral prednisone and chemotherapy (Cytarabine and 6-Mercaptopurine). She had a complete response on the skin lesions, partial regression of splenomegaly, and improvement of her hematologic disorders. Unfortunately the patient died from septic shock after two weeks of post-chemotherapy pancytopenia.ConclusionWe report an unusual case of rheumatoid arthritis complicated by chronic myeloid leukemia associated with pyoderma gangrenosum. It is unclear whether the development of chronic myeloid leukemia in the patient with rheumatoid arthritis occurs by chance alone, is due to the underlying disease, or is facilitated by drugs. Whatever the cause is, it should be kept in mind that chronic myeloid leukemia may develop in the course of rheumatoid arthritis.     

Air pollution particulate matter (PM2.5)-induced gene expression of volatile organic compound and/or polycyclic aromatic hydrocarbon-metabolizing enzymes in an in vitro coculture lung model

The overarching goals were: (i) to develop an in vitro coculture model, including two relevant lung target cells: human alveolar macrophage (AM) isolated from bronchoalveolar lavage fluid, and immortalized cells originated from the normal lung tissue of a human embryo (L132 cell line), as a future strategy for near-realistic exposures to air pollution particulate matter (PM), and (ii) to study the gene expression of volatile organic compound (VOC) and/or polycyclic aromatic hydrocarbons (PAH)-metabolizing enzymes in this in vitro coculture model. Human AM and/or L132 cells in mono- and coculture were exposed for 24, 48 and 72 h to Dunkerque City’s PM_2.5 at its lethal concentrations at 10% and 50% (i.e. AM: LC₁₀ = 14.93 μg PM/mL and LC₅₀ = 74.63 μg PM/mL; L132: LC₁₀ = 18.84 μg PM/mL and LC₅₀ = 75.36 μg PM/mL), and the gene expression (i.e. Cytochrome P450 1A1, CYP1A1; CYP2E1; CYP2F1; microsomal Epoxide Hydrolase; NADPH Quinone Oxydo-Reductase-1, NQO1; and Glutathione S-Transferase pi-1 and mu-3, GST-π1 and GST-μ3) was studied. In human AM in mono- and coculture, and in L132 cells in monoculture, VOC and/or PAH-coated onto PM induced the gene expression of CYP1A1, CYP2E1, NQO1, GST-π1, and/or GST-μ3. However, there were quiet different outcomes based on the use of L132 cells in mono- vs. coculture: the pattern of VOC and/or PAH-metabolizing enzymes induced by PM in L132 cells in monoculture remained almost unaffected when in coculture with AM. Taken together, these results reinforced the key role of PM-exposed target human AM in the defenses of the human lung from external injuries, notably through their higher capacity to retain PM, and indicated that carbonaceous cores of PM, as physical vector of the penetration and retention of coated-VOC and/or PAH into cells, enabled them to exert a longer toxicity. The use of such a near realistic exposure system could also be a very useful and powerful tool to identify the mechanisms by which air pollution PM induced adverse health effects.