Molecular genotyping of Echinococcus granulosus using formalin-fixed paraffin-embedded preparations from human isolates in unusual tissue sites.

Cystic echinococcosis (CE) caused by Echinococcus granulosus remains a serious problem worldwide for issues relating to public health and the economy. The most predominantly affected sites are the liver and the lungs, but other organs such as the heart, the spleen and the peritoneum can also be infected. Access to cysts from uncommon sites has limited genomic and molecular investigations. In the present study, genotypes of E. granulosus sensu lato were identified from formalin-fixed paraffin-embedded tissues (FF-PETs) implicated in human CE. Tissue samples were obtained from 57 patients with histologically confirmed CE. DNA samples were analysed using Egss 1 polymerase chain reaction (PCR) specific to the mitochondrial 12S rRNA gene of E. granulosus sensu stricto. All cysts were typed as E. granulosus sensu stricto with up to 35% of the liver and 16.6% of lungs being the most frequently infected, and up to 48.4% of samples being from rare sites. No correlation was found between cyst site and either the gender or the age of patients. This study demonstrates the possibility of exploiting atypical cysts using FF-PET samples and highlights the predominance of E. granulosus sensu stricto species in the Tunisian population, even in unusual infection sites.

Metanephric adenoma diagnosed on biopsy in an infant: a case report.

BACKGROUND: Metanephric adenoma is a rare benign renal tumor of the kidney, uncommonly observed in children. It is often misdiagnosed preoperatively as a malignant neoplasm, leading to an unnecessary nephrectomy. The challenge is to make the right diagnosis preoperatively and therefore manage it with conservative surgery. We report a case of a child with metanephric adenoma who underwent nephron-sparing surgery. CASE PRESENTATION: A renal tumor was discovered fortuitously in an 18-month-old Caucasian girl with several congenital malformations. Investigations showed a 28 × 27 × 27 mm left renal mass centrally located, well defined, nonvascularized, with no calcifications and which compressed the adjacent renal tissue. Furthermore, there were no signs of metastasis. The decision of a multidisciplinary meeting was to perform a computed tomography (CT)-scan-guided biopsy. Histologic examination concluded it was a metanephric adenoma. We performed a left open partial nephrectomy via a flank retroperitoneal incision. The final histopathological examination confirmed the diagnosis. The postoperative course was uneventful. CONCLUSION: Preoperative diagnosis of metanephric adenoma is challenging. Because of the high probability of unnecessary radical nephrectomy, preoperative biopsy can be safe and determining to guide a more conservative approach so nephron-sparing surgery can be performed.

[Malignant recurrence of "mature" sacrococcygeal teratoma. A clinicopathological study of 4 cases]. / Récidive maligne du tératome sacrococcygien "différencié". Etude anatomoclinique de 4 cas.

Sacrococcygeal teratomas (SCT) are uncommon neonatal tumours which are usually benign. Our interest was aroused by encountering patients with reportedly benign SCT which later, after surgery, recurred as malignant tumours. We conducted a retrospective study of 17 patients treated for benign SCT during a period of 9 years. Of these patients, 4 developed malignant recurrence (3 females and 1 male) with a mean age of 19 months. The average time to recurrence was 17 months. Recurrence presented as a gluteal mass in one case, urinary and digestive compression signs in another case and as elevated alpha-fetoprotein levels in the two remaining cases. Histologically, one of the original tumors included tiny immature foci but none contained a malignant component after reading slides. Recurrences were as endodermal sinus tumour in all cases. After surgery and adjuvant chemotherapy, only one child died from complications related to chemotherapy. The other three were alive and well at mean follow-up of 5 years. These results emphasise the need for close clinical and biological follow-up for at least 2 years in all patients who had undergone excision of a neonatal SCT.

[Pseudosarcomatous myofibroblastic proliferation of the bladder]. / Prolifération myofibroblastique pseudosarcomateuse de la vessie.

Myofibroblastic proliferations of the bladder in adults are unusual lesions with a benign course. These proliferations, whether spontaneous or secondary to instrumentation, have identical morphology and behaviour. Histologically, similar lesions have been reported in the literature using different names, such as inflammatory pseudotumour, pseudosarcomatous fibromyxoid tumour, nodular fasciitis, postoperative spindle cell nodule... Recently, some authors proposed that these lesions are similar enough to be considered the same entity, designated as "pseudosarcomatous myofibroblastic proliferation" and insisted on the necessity to distinguish them from the inflammatory myofibroblastic tumour of the childhood. The latter, recently recognized as tumour, has a malignant potential and is capable of giving metastases. We describe the case of a 17-year-old man who presented a vesical mass. The histopathological study concluded to a pseudosarcomatous myofibroblastic proliferation. We discuss, through a literature review, the relationship of this lesion with inflammatory myofibroblastic tumour and its main differential diagnoses.

Bilateral adrenalectomy for severe hypertension in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency: long term follow-up.

CONTEXT: Bilateral adrenalectomy has been recently proposed as a surgical treatment option for patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. There is however little documented data about the long-term efficiency and potential side effects of this treatment. Patients with 11beta-hydroxylase deficiency (11betaHD) have been also concerned by this new approach. OBJECTIVE: Our objective was to describe our experience with bilateral adrenalectomy as a treatment of severe hypertension in a patient with 11betaHD deficiency and to report the long term follow-up (72 months) results after surgery. PATIENT AND INTERVENTION: A 22-year-old genetically female patient with 11betaHD deficiency was raised as a male because of severe pseudohermaphroditism. The patient has been managed by conventional steroid suppressive therapy and antihypertensive drugs with limited success; hypertension remained uncontrolled and led to severe complications. Bilateral adrenalectomy was offered to him. RESULTS: The intervention was followed by immediate blood pressure normalization and resulted in remarkable clinical improvement. Good compliance with glucocorticoid and androgen substitutive therapies was noted. However, a high 11-deoxycortisol, presumably due to non-ovarian ectopic adrenal rests was noted 24 months after surgery. CONCLUSION: Bilateral adrenalectomy is a safe and efficient method of managing CAH with selected patients. Long-term clinical and biochemical follow-up of patients with CAH treated by bilateral adrenalectomy is needed to earlier detect ectopic adrenal rests.

Self-healing Langerhans cell histiocytosis (Hashimoto-Pritzker disease): two Tunisian cases.

Self-healing Langerhans cell histiocytosis (SHLCH) is a rare self-limited variant of Langerhans cell histiocytosis that presents at birth or during the neonatal period. It was first described by Hashimoto and Pritzker in 1973. Subsequently, more than 70 cases have been reported in the literature. Regarding age of onset, SHLCH should be divided into congenital SHLCH and rare late-onset type. We report here two additional cases of SHLCH in Tunisian infants. We emphasize the need for long-term follow-up in such patients.

[Complete androgen insensitivity syndrome: a novel mutation in a Tunisian family]. / Syndrome de résistance complète aux androgènes: nouvelle mutation chez une famille tunisienne.

INTRODUCTION: Complete androgen insensitivity is a rare syndrome. It is caused by a mutation in the androgen receptor gene. We describe a novel mutation in exon 1. MATERIALS AND METHODS: We report the case of a 29 year-old girl with complete androgen insensitivity syndrome discovered during the exploration of a primary amenorrhoea. The family investigation revealed two other cases. RESULTS: The diagnosis was oriented by the clinical and the biological features and confirmed by the molecular study. A new mutation of the androgen receptor gene, as a deletion in exon 1 not described previously, was identified. CONCLUSION: Through these cases, clinical, hormonal and histological particularities were analysed.

[Intussusception owing to pathologic lead points in children: report of 27 cases]. / Les causes inhabituelles d'invagination intestinale aiguë: à propos de 27 cas.

OBJECTIVE: Intussusception owing to pathologic lead points is a challenging condition for pediatric surgeons. The aim of this study was to review the particularities of clinical presentation, the place of morphologic investigation in depicting the presence of an organic lesion and the management of secondary intussusception. PATIENTS AND METHODS: The authors report a series of 27 patients treated from 1986 to 2004, for secondary intussusception. RESULTS: Nineteen boys and 8 girls, aged from 45 days to 11 years (mean age: 40 months) presented with secondary intussusception: Meckel's diverticulum (13 cases); lymphoma (8 cases); intestinal duplication (3 cases); heterotopic pancreas (2 cases); intestinal polyp (1 case). All patients were operated upon after failure of hydrostatic reduction. An intestinal resection with an end to end anastomosis was done for 26 patients. The biopsy of a large abdominal mass after an easy reduction of the intussusception was performed in 1 case. Chemotherapy was started at the sixth postoperative day for the 8 children having lymphoma. Two of them died during therapy. For the 25 others, the postoperative course was uneventful with a mean follow-up of 4 years. COMMENTARY: The improvement of the management and the prognosis of secondary intussusception requires an early diagnosis. Morphologic examination must not be limited to the diagnostic of intussusception but must aim at searching a lead point. The reduction of this particular form is based exclusively on surgery.

[Sudden cardiovascular death in adults: Study of 361 autopsy cases]. / La mort subite cardiovasculaire de l'adulte : étude autopsique de 361 cas.

AIMS OF THE STUDY: To describe epidemiological aspects of sudden cardiovascular death and to specify the etiopathogenic characteristics. PATIENTS AND METHOD: Our study is retrospective and descriptive. It included 361 cases of sudden cardiovascular death, which underwent autopsy in forensic medicine department of Monastir during eight years, from 1st January 2004 to 31st December 2011. RESULTS: The incidence of sudden cardiovascular death was 9 per 100,000 person. A marked male predominance was noted. The mean age was 55.75 years. In our series, myocardial infarction represents the leading cause of sudden cardiovascular death, 57.8% of cases. Other etiologies were hypertrophic cardiomyopathy (4.7%), heart failure (1.9%), arrhythmogenic right ventricular dysplasia (2.8%), valvular disease (2%), cardio-myo-pericarditis (1.9%), hydatid cyst of the heart (0.8%), ruptured aneurysm (2.5%), pulmonary embolism (1.9%) and aortic dissection (1.3%). A sudden cardiovascular death at work was found in 25 cases. These cases pose essentially a problem of imputability. CONCLUSION: Sudden cardiac death is usually the complication of underlying heart disease, sometimes overlooked. Several risk factors are involved. Sudden cardiac death in healthy heart or death caused by arrhythmia is an important entity seeking the intervention of several actors (forensic doctor, cardiologist, geneticist, media…) for prevention.

[Atypic radiologic aspect of a renal cell carcinoma in children]. / Présentation radiologique atypique d'un carcinome à cellules claires du rein chez l'enfant.

Renal cell carcinoma is rare in children and is usually found in late childhood. The authors report on an exceptional case of renal cell carcinoma in a 10-year-old girl. The radiological aspect is misleading and has not been previously reported in the literature. Renal cortex was thin because of congenital megalo-ureter, so the tumor developed entirely into excretory cavities (to the proximal ureter), while a primitive urothelial disease (tumoral or inflammatory) was first evoked. The atrophied cortex was the tumoral starting point which prolapsed into excretory cavities, upraising the urothelial epithelium.

[Congenital esophageal stenosis due to tracheobronchial remnants: report of 2 cases and literature review]. / Sténose congénitale de l'oesophage par hétérotopie trachéobronchique: à propos de 2 cas et revue de littérature.

Congenital esophageal stenosis due to tracheobronchial remnants is a rare malformation whose diagnosis may be difficult. It is characterised by the abnormal presence of congenital tissue of tracheal origin in the esophageal wall, which is responsible for the narrowing of the esophagus. We report 2 cases whose treatment was surgical after failure of esophageal dilations. The presence of tracheal-bronchial tissue was confirmed by histological examination of the operative piece. Outcome was favourable and the final result was excellent. Recently, endoscopic ultrasonography has been proved useful in the diagnosis of congenital esophageal stenosis due to tracheobronchial remnants by showing the presence of cartilage, which explains the failure of dilation. The high rate of perforation in these cases is due to brutal fragmentation of the cartilaginous rings. Surgical resection of esophageal stenosis with the tracheobronchial tissue appears the only treatment susceptible to completely suppress the stenosis and its consequences.

[Detection of EBV by PCR in fresh and paraffin embedded samples of cavum tumour]. / Détection de l'EBV par PCR dans des biopsies fraîches et enrobées en paraffine du cancer du cavum.

The nasopharyngeal carcinoma (NPC) is frequent in Tunisia. It's the second ORL cancer of men after the larynx one. To analyse the NPC characteristics in our population, we determined the frequency of EBV infection in 47 paraffin-embedded and 6 fresh NPC biopsies. We first extracted the DNA from tumoral tissus and then amplified viral sequences by PCR to detect and to type the infecting virus (EBV-A or ABV-B). Our results showed that amplifiable DNA has been obtained from 34/47 paraffin-embedded NPC biopsies while 13/47 of the others biopsies contained degraded and not amplifiable DNA. All the fresh biopsies allowed to obtain DNA with good quality. The EBV infection frequency in paraffin-embedded NPC biopsies is 35% while EBV is detected in all fresh biopsies (6/6). Our analyse also showed that the EBV-A is predominant in our population compared to EBV-B as it was shown in most countries of the world. This study clearly shows that PCR results obtained with paraffin-embedded NPC biopsies are divergeant from those obtained with fresh biopsies. Because of DNA degradation in paraffin-embedded NPC biopsies, the biology molecular results from that kind of samples is criticable. Moreover the results obtained from fresh NPC biopsies confirmed the quasi-constant association of EBV with undifferenciated carcinoma nasopharyngeal type.

In vivo behavior of MIL-100 nanoparticles at early times after intravenous administration.

Metal-organic frameworks have shown interesting features for biomedical applications, such as drug delivery and imaging agents. The benchmarked mesoporous iron(III) trimesate MIL-100 MOF nanocarrier combines progressive release of high drug cargoes with absence of visible in vivo toxicity. Although in a previous study pharmacokinetics and biodistribution of MIL-100 nanoparticles were evaluated in the long term (from 24h to 1 month), the crucial times for drug targeting and delivery applications are shorter (up to 24h). Thus, this work aims to study the blood circulating profile and organ accumulation of MIL-100 nanocarrier at early times after administration. For this purpose, after intravenous administration to rats, both constitutive components of MIL-100 (trimesate and iron) were quantified by high performance liquid chromatography and a spectrophotometric method, respectively. The pharmacokinetic profile suggested that the nanoparticles act as a depot in the blood stream during the first hours before being cleared. Accumulation took mainly place in the liver and, in some extent, in the spleen. Nevertheless, histological studies demonstrated the absence of morphological alterations due to the presence of the particles in these organs. Liver function was however slightly altered as reflected by the increased plasma aspartate aminotransferase concentrations. Finally trimesate was progressively eliminated in urine.

Human papillomavirus genotypes and HPV-16 variants distribution among Tunisian women with normal cytology and squamous intraepithelial lesions.

BACKGROUND: Little is known about the epidemiological characteristics of papillomavirus (HPV) infection among North African countries. Herein, we conducted a molecular epidemiological study to investigate prevalence of HPV type and HPV-16 variants among cervical-screened unvaccinated Tunisian women. METHODS: Cross-sectional study was performed on 494 Tunisian women visiting Women's Healthcare Centers. HPV-DNA detection was carried out on cervical samples using real-time polymerase chain reaction. HPV genotyping and HPV-16 variants were characterized by direct sequencing of L1 viral capsid gene. RESULTS: The overall HPV prevalence was 34% (95% CI: 30-38%) with significantly higher prevalence among women with squamous intraepithelial lesions (SIL) than those with no intraepithelial lesions (NIL) 84% (95% CI: 76-92%) and 24.5% (95% CI: 20-29%) respectively. The distribution of HPV prevalence according to women's age shows a U-shaped curve and the highest HPV prevalence rates were observed among the youngest (≤25 years; 51.2%, 95% CI: 37-67%) and the oldest women (>55 years; 41.7%, 95% The HPV-16 prevalence was 32.8% (95% CI: 22-45%) among women with SIL and 9.2% (95% CI: 6-12%) among women with NIL. Whereas, the HPV-18 prevalence was 1.3% (95% CI: 0-5%) among women with SIL and 0.3% (95% CI: 0-1%) among women with NIL. Among HPV-16 positive women, European lineage (E) was identified as the predominant HPV-16 variant (85.7%, 95% CI: 76-95%). The frequency of E variant was lower among SIL than among NIL women (81%, 95% CI: 64-99%, and 88%, 95% CI: 77-100%, respectively). Conversely, the African-2 variant frequency was higher among SIL than among NIL women (18%, 95% CI: 1-36% and 6%, 95% CI: 2-14%, respectively). In multivariate analysis, young age was the only risk factor that is independently associated with HPV infection. Moreover, HPV infection and menopause were both found to be independently associated with SIL and HSIL. CONCLUSION: HPV DNA testing should be proposed to young and menopausal Tunisian women. Considering HPV prevalence, only 13% of the Tunisian women could be protected by the bivalent HPV vaccine. These results may be helpful for designing an adapted HPV testing and vaccination program in Tunisia.

[Phalengeal actinomycosis: a rare disease]. / Actinomycose des os du pied: un diagnostic à ne pas méconnaître.

INTRODUCTION: Bone involvement in actinomycosis is rare. EXEGESIS: We report a case of a 38 year-old woman with foot bone actinomycosis. The clinical symptoms were non-specific and the diagnosis was difficult. An X-ray revealed an osteolysis and a sclerosis of the proximal phalanx of the big toe. A phalengiectomy was carried out after the failure of antistaphylococcic antibiotherapy. The diagnosis of actinomycosis was substantiated by a histological examination. The clinical outcome was good after six-month treatment by penicillin G substitutes for cotrimoxazol. The patient completely recovered and was feeling well. The mean follow up was fifteen months. CONCLUSION: Clinical and therapeutic aspects of this rare localization are reviewed.