Intramedullary spinal schistosomiasis: A case report and review of the literature.

INTRODUCTION: Spinal cord schistosomiasis is an extremely rare entity presenting with a wide range of neurological symptoms. The early diagnosis and treatment can improve neurological outcome. Histopathological examination is the gold standard for establishing the diagnosis of spinal schistosomiasis, revealing schistosoma eggs. CASE REPORT: We report a case of a 13-year-old male, from Mauritania, with a history of drinking unsafe water, presenting with an acute urinary retention and gait disturbances evolving for 1 month. His clinical examination found an incomplete conus medullary syndrome made up of urinary retention, lively patellar reflexes on the right, ataxia when walking on the same side and indifferent cutaneous planter reflex. The magnetic resonance imaging (MRI) on dorsal spine revealed an enhancing mass involving the conus medullaris in the L1-L2 region suggestive of an arteriovenous malformation or a cavernoma. The resection tissue specimens for diagnosis were fixed with 10 % buffered formalin. The slides were stained with haematoxylin-eosin staining for light microscopy. The diagnosis of schistosomiasis spinal cord was retained. The child has been treated with oral praziquantel 25 mg/kg. DISCUSSION: Diagnosis of schistosomiasis is based on a combination of clinical evaluation, imaging studies, and laboratory tests. However, definitive diagnosis typically requires histopathological examination of spinal cord lesions obtained through biopsy. Differential diagnosis is broad, including an acute vascular event and/or tumor, especially in children from endemic areas for schistosomiasis. CONCLUSION: Schistosomiasis infection should be suspected when encountering medullary lesion associated to peripheral hypereosinophilia. Surgical excision combined with praziquantel may help improve neurological deficits.

Systemic modulation of stress and immune parameters in patients treated for prostate adenocarcinoma by intensity-modulated radiation therapy or stereotactic ablative body radiotherapy.

BACKGROUND: In this exploratory study, the impact of local irradiation on systemic changes in stress and immune parameters was investigated in eight patients treated with intensity-modulated radiation therapy (IMRT) or stereotactic ablative body radiotherapy (SABR) for prostate adenocarcinoma to gain deeper insights into how radiotherapy (RT) modulates the immune system. PATIENTS AND METHODS: RT-qPCR, flow cytometry, metabolomics, and antibody arrays were used to monitor a panel of stress- and immune-related parameters before RT, after the first fraction (SABR) or the first week of treatment (IMRT), after the last fraction, and 3 weeks later in the blood of IMRT (N = 4) or SABR (N = 4) patients. Effect size analysis was used for comparison of results at different timepoints. RESULTS: Several parameters were found to be differentially modulated in IMRT and SABR patients: the expression of TGFB1, IL1B, and CCL3 genes; the expression of HLA-DR on circulating monocytes; the abundance and ratio of phosphatidylcholine and lysophosphatidylcholine metabolites in plasma. More immune modulators in plasma were modulated during IMRT than SABR, with only two common proteins, namely GDF-15 and Tim­3. CONCLUSION: Locally delivered RT induces systemic modulation of the immune system in prostate adenocarcinoma patients. IMRT and SABR appear to specifically affect distinct immune components.

Congenital cervical choristoma of the neck mimicking cystic lymphangioma.

INTRODUCTION: Choristoma is a mass presenting normal histology, but in an abnormal location. Cystic choristoma is rarely reported in the head and neck region. Neonatal cystic masses in the neck suggest usually correspond to a diagnosis of cystic lymphangioma. CASE REPORT: We report a case of a congenital cystic choristoma of the neck clinically and radiologically mimicking cystic lymphangioma. DISCUSSION: Congenital cystic choristoma is an extremely rare lesion, essentially described in neonates, composed of various types of tissues. The diagnosis of congenital cystic choristoma may be suggested on imaging and must be confirmed by histopathological examination. Treatment consists of complete surgical resection.

An atypical odontogenic myxoma.

INTRODUCTION: Odontogenic myxoma is an uncommon tumor of the jaws, benign but locally invasive. It arises from the mesenchymal portion of the tooth germ. It has a variable non-specific clinical and radiological appearance, and may be confused with other lesions of the jaws. CASE REPORT: A patient aged 50 presented for a periodontal treatment. After routine retroalveolar X-rays, we noted a small limited radiolucency between the left mandibular canine and the left mandibular first premolar. There were no clinical symptoms. Histology after enucleation of the lesion revealed the diagnosis of odontogenic myxoma. DISCUSSION: Odontogenic myxoma is a relatively rare benign neoplasia. It is locally aggressive, inducing important facial deformation and tooth displacement. The lesion often grows without symptoms and presents as a painless swelling. The radiographic features are variable, it appears as a unilocular or multilocular radiolucency, and the diagnosis is therefore not easy. The case reported is an atypical presentation of odontogenic myxoma because of the small size of the lesion, the radiographic features, and the early detection and management.

Serum miR-483-5p and miR-195 are predictive of recurrence risk in adrenocortical cancer patients.

Adrenocortical carcinoma (ACC) is a rare cancer with poor prognosis. Local and distant recurrences occur in a subset of tumors classified as 'aggressive' ACC (aACC), as opposed to 'non-aggressive' ACC (naACC). In this study, we investigated whether tissue and serum microRNAs (miRNAs) are predictive of ACC prognosis. Tissue miRNA expression profiles were determined using microarrays in a test series of six adrenocortical adenomas (ACAs), six naACCs, and six aACCs. Eight miRNAs were selected for further validation by quantitative RT-PCR (ten ACAs, nine naACCs, nine aACCs, and three normal adrenals). Serum levels of five miRNAs were measured in samples from 56 subjects (19 healthy controls (HC), 14 ACA, nine naACC, and 14 aACC patients). MiR-195 and miR-335 levels were significantly decreased in both tumor and serum samples of ACC patients relative to ACA patients or HC. MiR-139-5p and miR-376a levels were significantly increased in aACC compared with naACC patients in tumor samples only. Tissue miR-483-5p was markedly upregulated in a majority of ACC compared with ACA patients or HC, but most importantly, serum miR-483-5p was detected only in aACC patients. High circulating levels of miR-483-5p or low circulating levels of miR-195 were associated with both shorter recurrence-free survival (P=0.0004 and P=0.0014 respectively) and shorter overall survival (P=0.0005 and P=0.0086 respectively). In conclusion, this study reports for the first time that circulating miR-483-5p and miR-195 are promising noninvasive biomarkers with a highly specific prognostic value for the clinical outcome of ACC patients.

[Botryoid Wilms tumor extending into the duodenum]. / Néphroblastome botryoïde étendu au duodénum.

We report on a rare case of botryoid Wilms tumor extending into the duodenum. This uncommon macroscopic form of nephroblastoma consists entirely of a polypoid renal intrapelvic mass. The main differential diagnosis of this unusual tumor is botryoid rhabdomyosarcoma. A 14-month-old boy presented with a painful abdominal mass. Radiology revealed a large heterogeneous mass in the renal calyx, protruding into the ureter. A right radical nephroureterectomy was carried out. The tumor was found to extend into the 2nd portion of the duodenum. The pathologic diagnosis was mixed type nephroblastoma, SIOP 2001 stage III. The patient was given a course of postoperative chemotherapy. No local recurrence or metastatic spread has been detected after 2 years. Only few such cases have been previously reported, some of them extending into the bladder. To our knowledge, botryoid nephroblastoma has not previously been described as extending into the digestive system.

A novel concept in antiangiogenic and antitumoral therapy: multitarget destabilization of short-lived mRNAs by the zinc finger protein ZFP36L1.

Angiogenesis inhibitors have shown clinical benefits in patients with advanced cancer, but further therapeutic improvement is needed. We have previously shown that the zinc finger protein 36, C3H type-like 1 (ZFP36L1) enhances vascular endothelial growth factor (VEGF) mRNA decay through its interaction with AU-rich elements within VEGF 3'-untranslated region. In this study, we evaluated the possibility to develop an antiangiogenic and antitumoral strategy using the mRNA-destabilizing activity of ZFP36L1. We engineered a cell-penetrating ZFP36L1, by fusing it to the protein transduction domains (PTDs) TAT derived from HIV, or the polyarginine peptides R7 or R9. PTD-ZFP36L1 fusion proteins were expressed in bacterial cells and affinity-purified to homogeneity. TAT-, R7- and R9-ZFP36L1 were efficiently internalized into living cells and decreased both endogenous VEGF mRNA half-life and VEGF protein levels in vitro. Importantly, a single injection of R9-TIS11b fusion protein into a high-VEGF expressing tissue in vivo (in this study, the mouse adrenal gland) markedly decreased VEGF expression. We further evaluated the effect of R9-ZFP36L1 on tumor growth using Lewis Lung Carcinoma (LL/2) cells implanted subcutaneously into nude mice. Intratumoral injection of R9-ZFP36L1 significantly reduced tumor growth and markedly decreased the expression of multiple angiogenic and inflammatory cytokines, including VEGF, acidic fibroblast growth factor, tumor necrosis factor α, interleukin (IL)-1α and IL-6, with a concomitant obliteration of tumor vascularization. These findings indicate that R9-ZFP36L1 fusion protein may represent a novel antiangiogenic and antitumoral agent, and supports the emerging idea that modulation of mRNA stability represents a promising therapeutic approach to treat cancer.

[Clear cell sarcoma of soft tissues: a case report]. / Le sarcome à cellules claires des parties molles à propos d'un cas.

Clear cell sarcoma or melanoma of soft tissues is a rare tumor in young adults, mainly located in the extremities. We report a new case observed in a 15-year-old teenager who had injured her left knee 1 month before hospitalization. The patient consulted for deformation of the left knee with pain and limitation in flexion. A CT scan of the knee showed a hypodense mass of the anterior compartment of the left leg. The histological and immunohistochemical study of the biopsy fragment concluded in clear cell sarcoma of the soft tissue. The histogenesis of this tumor continues to be debated and raises diagnostic challenges for the pathologist who must eliminate melanoma metastases, whose prognosis is different.

[A survey of neuromuscular relaxant use from anaesthesiology residents in training]. / Evaluation des pratiques du monitorage neuromusculaire au bloc opératoire par les internes d'Ile-de-France.

OBJECTIVE: There is need to assess our practice of neuromuscular monitoring according to national consensus guidelines. The aim of this study was to evaluate practice adherence to guidelines in teaching hospitals. METHODS: A questionnaire designed to provide information concerning the use of muscle relaxant for tracheal intubation and surgery, monitoring and antagonism of neuromuscular blockade in teaching hospital was distributed to anaesthesiology residents in training. RESULTS: Among 187 residents, 121 (65%) answered the questionnaire. A neuromuscular transmission monitoring device was reported available in each operating room by 56% (CI 95%: 46-65%) of responders. For tracheal intubation, neuromuscular monitoring was rarely or never used in 54% (CI 95%: 45-63%) of the responses. During the perioperative period and before extubation, neuromuscular monitoring was reported to be used by 56% (CI 95%: 46-65%) and 70% (CI 95%: 60-78%) of the residents respectively. The correct train-of-four ratio (T4/T1> or =0.9) required prior to extubation was respected in 55% (CI 95%: 46-64%) of the responses. When indicated, reversal of neuromuscular blockade was declared to be systematically performed by 49% (CI 95%: 40-58%) of responders. CONCLUSION: This questionnaire addressed to anaesthesiology residents in training was a practical and objective mean to obtain relevant information concerning our practices. It revealed an inadequate availability of quantitative neuromuscular monitors in the operating room. As a result, neuromuscular monitoring and reversal of neuromuscular blockade were underused. Teaching hospitals should improve their implication in residents' education and adherence to practice guidelines.

[Pulmonary alveolar microlithiasis: report of four cases]. / La microlithiase alvéolaire pulmonaire: à propos de quatre cas.

INTRODUCTION: Pulmonary alveolar microlithiasis is a rare disease characterised by the formation and deposition of calcium phosphate microliths in the lung. It is an autosomal recessive disorder, for which mutation in the SLC34A2 gene was recently found to be responsible for the disease. OBSERVATIONS: We report on four cases of pulmonary alveolar microlithiasis. Three patients were asymptomatic. The diagnosis was made after histological confirmation in three patients. The outcome was marked by the death of one patient. CONCLUSION: Pulmonary alveolar microlithiasis is a rare disease. Diagnosis is made with high-resolution computed tomography, which exhibits the calcic character and distribution of the lesions, thus avoiding the need to perform lung biopsy. We suggest that a literature review be performed.

[Renal failure in sarcoidosis: case report]. / Sarcoïdose et insuffisance rénale: à propos de deux cas.

Renal involvement in sarcoidosis is rare and more often related to calcium metabolism disorders or granulomatous interstitial nephritis, glomerulonephritis is exceptional. The two cases of renal failure reported in this article illustrate the gravity of this complication, whose treatment remains difficult.

[Congenital vascular leiomyosarcoma]. / Léiomyosarcome vasculaire congénital.

INTRODUCTION: Vascular leiomyosarcoma is a conjunctive tumor which develops in the smooth muscle cells of vessel walls. Proximal vascular leiomyosarcoma involving the large vessels and peripheral vascular leiomyosarcoma which develops in the vascular pedicles of the limbs and subcutaneous vessels are distinguished. OBSERVATION: We report the case of a 6-year-old child who presented from birth a peripheral vascular leiomyosarcoma. The immunohistochimic study revealed tumor cell expression vimentin, SMA and desmine. In spite of wide surgical resection with associated chemotherapy, the child's clinical status deteriorated. DISCUSSION: Vascular leiomyosarcoma is a rare tumor occurring exceptionally in children. Prognosis depends on the presence of local recurrence and metastatic spread.

[Clear cell sarcoma of the kidney. A study of 13 cases]. / Sarcome rénal à cellules claires. A propos d'une série de 13 cas.

UNLABELLED: Clear cell sarcoma of the kidney (CCSK) also called a "bone-metastasizing renal tumor of childhood" is the second common pediatric renal neoplasm. This tumor is associated with a higher rate of relapse and a wider distribution of metastases than Wilms' tumor. PATIENTS AND METHODS: We have reviewed records of 13 cases of CCSK among 277 renal tumors (5%) diagnosed at the children's hospital of Rabat between 1990 and 2002. RESULTS: The median age at diagnosis was 14 months (5 months-9 years). The male to female ratio was 5.5:1.00. Abdominal mass, usually the first physical finding, was associated with hematuria in four cases. No congenital malformation syndrome or familial Wilms' tumor were observed. Imaging studies found out seven right and six left intrarenal processes. Preoperative chemotherapy was given according to the SIOP9, SIOP93-01 and GFAOP 98 protocols. Twelve of 13 children underwent nephrectomy. Tumor measurements varied through 450-3450 g and 7-26 cm. The classic morphologic pattern was seen in nine cases (69%). The distribution local stage was I: three cases; II: three cases; III: six cases; IV: one case. Postoperative chemotherapy and radiotherapy (21 600-30 600 cGy) was done in 10 cases. With a median follow up of 44 months, four patients showed bone metastases (31%), four are alive in CR, four are lost for follow up and five died. CONCLUSION: CCSK remains the pediatric renal tumor most frequently misdiagnosed. Its aggressiveness and its ability to give bone metastases need to recognize early this diagnosis for an adapted treatment.

[Chondromyxoid fibroma of bone: a rare benign bone tumor in children]. / Le fibrome chondromyxoïde de l'os: une tumeur osseuse rare de l'enfant.

Chondromyxoid fibroma is a rare benign tumor that is typically found in the metaphyseal ends of long tubular bones, such as the tibia. The radiographic appearances are those of a single, lytic lesion with lobulated margins, septations, cortical expansion and a sclerotic rim. The classic histological feature of a chondromyxoid fibroma is stellate or spindle-shaped cells arranged in lobules in a myxoid or chondroid background. Two cases are presented here: 8, and 12-year-old patients, both with lesions in the proximal tibia. The first case showed an unusual feature: it was diaphyseal chondromyxoid fibroma. In the second case, the lesion was metaphyso-diaphyseal. The differential diagnosis includes chondroblastoma, myxoma, aneurysmal cyst as well as chondrosarcoma. A surgical conservative treatment with complete excision is recommended even in case of recurrence.

[Benign granular cell anal tumor]. / Tumeur anale bénigne à cellules granuleuses.

INTRODUCTION: Granular cell tumors (GCT) are rarely located in the perianal area. OBSERVATION: Over the past 3 years, a 56 year-old man presented a papule of the right margin of the anus that had progressively increased in size (1.5 cm). Cell proliferation was located in the dermis and strongly expressed the S100 protein. It was covered by a pseudo-epitheliomatous hyperplasia of the overlying epidermis. Forty months after local surgical excision, there was no sign of recurrence. COMMENTS: Granular cell tumors are rare and usually benign. When cutaneous or mucosal, the pseudo-epitheliomatous hyperplasia of the overlying epithelium may, on superficial samples, be mistakenly diagnosed as squamous cell carcinomas. Malignant GCT may, histologically, appear identical to a benign GCT and only the appearance of metastases (generally after local recurrence) permits the subsequent diagnosis of malignancy.

[Pleuropulmonary blastoma: possible interest of neoadjuvant chemotherapy. A case report]. / Blastome pleuropulmonaire: intérêt possible d'une chimiothérapie néoadjuvante. A propos d'un cas.

Pleuropulmonary blastoma is a very exceptional anatomoclinical and histological entity recently distinguished from adult pneumoblastoma. This tumor, observed in children aged less than 15, can involve the lung, the pleura, or the mediastinum and is characterized by a very poor prognosis. We report the case of a 4-year-old girl who developed pleuropulmonary blastoma which was discovered in a context of respiratory distress. Standard chest x-ray revealed an opacity covering the entire left lung. Histology and immunohistology led to the diagnosis of pleuropulmonary blastoma with several components: blastematous, malignant mesenchymatous with pluridirectional differentiation, and benign epithelial tissue. Treatment consisted in preoperative chemotherapy and radiotherapy to reduce tumor volume. This neoadjuvant treatment is not widely reported and its relatively favorable result allowed tumor resection. This approach might be useful in similar cases.

Angiotensin II promotes selective uptake of high density lipoprotein cholesterol esters in bovine adrenal glomerulosa and human adrenocortical carcinoma cells through induction of scavenger receptor class B type I.

Angiotensin II is one of the main physiological regulators of aldosterone biosynthesis in the zona glomerulosa of the adrenal cortex. The hormone stimulates intracellular cholesterol mobilization to the mitochondrion for steroid biosynthesis. Here we have examined whether angiotensin II also modulates exogenous lipoprotein cholesterol ester supply to the steroidogenic machinery and whether this control is exerted on the selective transport of high density lipoprotein-derived cholesterol ester to intracellular lipid droplets through the scavenger receptor class B type I. In bovine adrenal glomerulosa and human NCI H295R adrenocortical carcinoma cells, high density lipoprotein stimulated steroid production. Angiotensin II pretreatment for 24 h potentiated this response. Fluorescence microscopy of cellular uptake of reconstituted high density lipoprotein containing a fluorescent cholesterol ester revealed an initial, time-dependent narrow labeling of the cell membrane followed by an intense accumulation of the fluorescent cholesterol ester within lipid droplets. At all time points, labeling was more pronounced in cells that had been treated for 24 h with angiotensin II. Fluorescence incorporation into cells was prevented by a monoclonal antibody directed against apolipoprotein A-I. Upon quantitative fluorometric determination, cholesterol ester uptake in angiotensin II-treated bovine cells was increased to 175 +/- 15% of controls after 2 h and to 260 +/- 10% after 4 h of exposure to fluorescent high density lipoprotein. The amount of scavenger receptor class B type I protein detected in cells treated with angiotensin II for 24 h reached 203 +/- 12% of that measured in control cells (n = 3, P < 0.01). In contrast, low density lipoprotein receptors were only minimally affected by angiotensin II treatment. This increase in scavenger receptor class B type I protein was associated with a 3-fold induction of scavenger receptor class B type I mRNA, which could be prevented by actinomycin D but not by cycloheximide. Similar results were obtained in the human adenocarcinoma cell line H295R. These observations show that angiotensin II regulates the scavenger receptor class B type I-mediated selective transport of lipoprotein cholesterol ester across the cell membrane as a major source of precursor for mineralocorticoid biosynthesis in both human and bovine adrenal cells.

Decreased expression of steroidogenic acute regulatory protein: a novel mechanism participating in the leptin-induced inhibition of glucocorticoid biosynthesis.

The adipocyte-derived hormone leptin is a central modulator of food intake, metabolism and neuroendocrine functions. It is also involved in a physiological loop linking the activity of the hypothalamo-pituitary-adrenal axis and adipose tissue. At the adrenal level, leptin has been shown to antagonize the effects of ACTH on glucocorticoid biosynthesis by decreasing the expression of various enzymes of the steroid biosynthetic pathway. The steroidogenic acute regulatory protein regulates cholesterol delivery to the P450(scc) enzyme, a process that is rate limiting in steroid hormone biosynthesis. We have demonstrated here that leptin significantly inhibits the expression of steroidogenic acute regulatory protein in primary cultures of rat adrenocortical cells. This inhibition was observed at both the protein and mRNA levels. In contrast, leptin was not found to interfere with the expression of the cytosolic enzyme cholesterol ester hydrolase or with that of the mitochondrial enzyme P450(scc). In addition, we observed the anticipated stimulation of cAMP production by ACTH in the presence of leptin, suggesting that it does not interfere with intracellular ACTH signaling. In summary, our data provide evidence that the interplay existing between leptin and ACTH in vivo is mediated at least partially via a direct and opposite modulation of steroidogenic acute regulatory protein, a key factor in the adrenal steroid biosynthetic pathway. This effect of leptin could also be relevant to other steroidogenic tissues.