Videocapsule retention: role of surgical treatment (a case report)

Video capsule endoscopy (VCE) is a safe innovative tool for investigating obscure gastrointestinal diseases. The capsule is usually excreted with faeces within 24-48 h. Retention of capsule rarely occurs, and it usually  depends on the indication of VCE. Retention may long remain asymptomatic or manifest as subocclusif  syndrome. Acute complications of retention are very rare but can be life-threatening illness. Surgical approach is considered effective to retrieve the retained capsule, treat the pathology responsible and prevent acute  complications. We report the case of a 30 years old patient, followed for Crohn’s disease. She received during  the assessment reviewed by VCE that has been held for three months. The retention caused subocclusif  symptoms of which had needed surgically procedure. Treatment consisted of remove the VCE and repair of stenosis of small bowel by stricturoplasty

Pleomorphous leiomyosarcoma of the mesocolon: a case report

Leiomyosarcoma is a rare tumor of the smooth muscle, but relatively frequent in the stomach and the small intestine. The mesocolic site is rare. Globally, leimyosarcoma represents less than 0, 1% of the malignant tumors found in the colon and the anus. Because of the similarities with other digestive tumors, namely mesenchymatous or benign tumors of the smooth muscle, the diagnosis of a pleomorphic sarcoma remains difficult even at the histological stage. Surgery is the mainstay of the therapy. We report a case of leiomyosarcoma of the mesocolon and discuss about its main characteristics in the view of the current literature about this pathological condition.Pan African Medical Journal 2015; 2

Enxtraoviarian granulosa cell tumor: a case report

Extraovarian granulosa cell tumor (GCT) is a very unusually tumor, assumed to arise from the ectopic gonadal tissue along the embryonal route of the genital ridge. One such rare case of extraovarian granulosa cell tumor was encountered in a 60-year-old female patient who presented with a large intra-abdominal mass. Computerized tomography revealed a large retroperitoneal mass measuring 11 x 10 x 8cm in size. Her past medical history was irrelevant. She underwent exploration laparotomy and the mass was excised. Histopathological examination of the excised mass showed features of adult-type granulosa cell tumor.The tumor showed positivity for inhibin while epithelial membrane antigen was negative thus confirming the diagnosis of granulosa cell tumor. A diagnosis of extraovarian granulosa cell tumor can only be done after excluding any previous history of granulosa cell tumor of the ovary. Immunostains help to differentiate granulosa cell tumors from other neoplasms.Pan African Medical Journal 2016; 2

Cholécystectomie laparoscopique sur situs inversus

La coeliochirurgie est la technique de référence pour le traitement de la lithiase vésiculaire symptomatique. Jusqu’à ce jour, seuls 42 cas de cholécystectomie laparoscopique chez des patients présentant un situs inversus ont été publiés. Ainsi, nous rapportons un nouveau cas d'un patient, suivi pour cardiopathie congénitale complexe à type de ventricule unique sur situs inversus et dextrocardie. C’est un patient qui était hospitalisé pour prise en charge chirurgicale de lithiase vésiculaire symptomatique. Une cholécystectomie laparoscopique était réalisée. La disposition des trocarts et l’abord chirurgical étaient complètement inverses et symétrique par rapport à l’abord laparoscopique normal

Intra-Abdominal Metastasis After Pelvic Primary Synovial Sarcoma Resection: Case Report

Introduction: Synovial sarcoma is a malignant soft tissue sarcoma. It occurs predominantly in young adults. 90% of synovial sarcomas occur in the extremities, they have been reported in other sites, including the abdomen and pelvis. Up to 40% of all patients with soft tissue sarcomas develop distant metastasis, despite adequate local disease control. Aim of the article: To provide an update on one of the rarest and most aggressive tumors, to affirm the importance of early management and especially surveillance, and to encourage the codification and the management of these tumors. Presentation of cases: Here, we discuss a case of a 78-year-old female patient, operated 10 years earlier for a pelvic Synovial sarcoma, who presented with intra-abdominal mass to our hospital that eventually turned out to be a metastatic intra-abdominal synovial sarcoma following biopsy. Conclusion: It is important to be aware that primary intraabdominal tumors can occur and delayed metastasis is more typical of synovial sarcoma than of many other sarcomas and should be considered in determining the appropriate frequency and duration of follow-up imaging

Intra-abdominal metastasis after pelvic primary Synovial Sarcoma resection: case report

Introduction: Synovial sarcoma is a malignant soft tissue sarcoma. It occurs predominantly in young adults. 90% of synovial sarcomas occur in the extremities, they have been reported in other sites, including abdomen and pelvis. Up to 40% of all patients with soft tissue sarcomas develop distant metastasis, despite adequate local disease control. Aim of the article: To provide an update on one of the rarest and most aggressive tumors, to affirm the importance of early management and especially surveillance, and to encourage the codification and the management of these tumors. Presentation of cases: Here, we discuss a case of a 78-year-old female patient, operated 10 years earlier for a pelvic Synovial sarcoma, who presented with intra-abdominal mass to our hospital that eventually turned out to be a metastatic intra-abdominal synovial sarcoma following biopsy. Conclusion: It is important to be aware that primary intraabdominal tumors can occur and delayed metastasis is more typical of synovial sarcoma than of many other sarcomas and should be considered in determining the appropriate frequency and duration of follow-up imaging

Homozygous Deletion of Six Olfactory Receptor Genes in a Subset of Individuals with Beta-Thalassemia

Progress in the functional studies of human olfactory receptors has been largely hampered by the lack of a reliable experimental model system. Although transgenic approaches in mice could characterize the function of individual olfactory receptors, the presence of over 300 functional genes in the human genome becomes a daunting task. Thus, the characterization of individuals with a genetic susceptibility to altered olfaction coupled with the absence of particular olfactory receptor genes will allow phenotype/genotype correlations and vindicate the function of specific olfactory receptors with their cognate ligands. We characterized a 118 kb β-globin deletion and found that its 3′ end breakpoint extends to the neighboring olfactory receptor region downstream of the β-globin gene cluster. This deletion encompasses six contiguous olfactory receptor genes (OR51V1, OR52Z1, OR51A1P, OR52A1, OR52A5, and OR52A4) all of which are expressed in the brain. Topology analysis of the encoded proteins from these olfactory receptor genes revealed that OR52Z1, OR52A1, OR52A5, and OR52A4 are predicted to be functional receptors as they display integral characteristics of G-proteins coupled receptors. Individuals homozygous for the 118 kb β-globin deletion are afflicted with β-thalassemia due to a homozygous deletion of the β-globin gene and have no alleles for the above mentioned olfactory receptors genes. This is the first example of a homozygous deletion of olfactory receptor genes in human. Although altered olfaction remains to be ascertained in these individuals, such a study can be carried out in β-thalassemia patients from Malaysia, Indonesia and the Philippines where this mutation is common. Furthermore, OR52A1 contains a γ-globin enhancer, which was previously shown to confer continuous expression of the fetal γ-globin genes. Thus, the hypothesis that β-thalassemia individuals, who are homozygous for the 118 kb deletion, may also have an exacerbation of their anemia due to the deletion of two copies of the γ-globin enhancer element is worthy of consideration

Molecular and phenotypic diversity of <I>CBL</I>-mutated juvenile myelomonocytic leukemia

Mutations in the CBL gene were first identified in adults with various myeloid malignancies. Some patients with juvenile myelomonocytic leukemia (JMML) were also noted to harbor mutations in CBL, but were found to have generally less aggressive disease courses compared to patients with other forms of Ras pathway-mutant JMML. Importantly, and in contrast to most reports in adults, the majority of CBL mutations in JMML patients are germline with acquired uniparental disomy occurring in affected marrow cells. Here, we systematically studied a large cohort of 33 JMML patients with CBL mutations and found that this disease is highly diverse in presentation and overall outcome. Moreover, we discovered somatically acquired CBL mutations in 15% of pediatric patients who presented with more aggressive disease. Neither clinical features nor methylation profiling were able to distinguish patients with somatic CBL mutations from those with germline CBL mutations, highlighting the need for germline testing. Overall, we demonstrate that disease courses are quite heterogeneous even among patients with germline CBL mutations. Prospective clinical trials are warranted to find ideal treatment strategies for this diverse cohort of patients