A giant occipital encephalocele: A case report

Occipital encephalocele is a rare congenital anomaly that is characterized by herniation of brain tissue through a defect in the skull. Because of their enormous size, they pose a surgical challenge. Occipital encephalocele is the commonest of all encephalocele; the management of encephalocele defects requires immediate surgical closure. The author reports a case of a five months old female baby who presented a progressively increasing swelling over the occipital region. This swelling was present since birth. Surgery was planned to reduce the size of the swelling as well as its contents. The sac was excised and reduced sufficiently enough to accommodate the healthy-looking brain tissue. This infant did well postoperatively

Treatment of chronic pain by spinal cord stimulation

Failed back surgery syndrome (FBSS) is often used to describe the condition of patients who have experienced continued pain after surgery. It is of multifactorial genesis and may be the consequence of various lumbar spinal diseases; lumbar disc herniation surgery or spinal canal stenosis laminectomy. The presented series included 13 patients affected with chronic pain related to FBSS who underwent implantation of spinal cord stimulation. The mean percentage of pain relief was 90 % for all patients. 60% of the patients were in a better psychological status and the intake of analgesic medications has been reduced of more than 70%. More than 50% of the patients could resume professional activities. Analysis of the risks and benefits comes in favour of spinal cord stimulation

Surgical management of intramedullary spinal cord metastasis: Report of three cases that revealed unknown malignancies

Intramedullary spinal cord metastasis (IMSCM) is a rare complication of malignancies still studied by case reports; although surgery is related with the best results, the management is still debated considering the risks and the low life expectancy; in fact, many authors prefer conservative management (radiotherapy, chemotherapy), and so less than 200 cases reported in the literature with patients IMSCM were treated surgically; reporting such cases will help to understand the pathology and elaborate a clear management protocol. We report three cases of IMSCM operated at our department; in those patients, the intramedullary lesions revealed the primary tumours.   &nbsp

Resection of giant invasive thoracic schwannoma: Case report

Even though spinal nerve sheath tumours, presented especially by schwannomas, are considered to be mostly benign; they can gain a huge size and have an invasive behaviour, causing spinal cord compression, bone destruction, and make the total removal of the tumour a real challenge for the surgeon. This type of tumours is recently described as giant invasive spinal schwannoma (GISS), this type rarely reported in the thoracic region; deserve a special studying vis-a-vis the diagnosis and the management of both the tumour and the bone destruction.       &nbsp

Communicating spinal epidural thoracic arachnoid cyst en-bloc resection: A case report

Background: Spinal extradural arachnoid cyst is an uncommon, expanding lesion which may communicate with the subarachnoid space, The etiology still remains unclear, but the most accepted explanation is the existence of areas of weakness in the spinal dura , Spinal arachnoid cysts are usually in the thoracic spine, and they may cause symptoms due to spinal cord compression. Case Presentation: Patient is a 54-years-old female who presented with progressive back pain and motor deficit, Magnetic resonance imaging (MRI) study revealed an extradural cyst extending from T2 to T4 isointense with the cerebrospinal fluid (CSF) on all sequences and did not enhance on T1-weighted post-contrast MRI. Patient underwent T2-T4 laminectomy, en-bloc resection of the lesion was achieved and the histopathological examination objectified an arachnoid cyst. Conclusion: Spinal extradural arachnoid cyst can cause neurologic deficit and the mainstay of treatment in patients with neurological symptoms is surgical removal of the cyst together with ligation of the communicating pedicle and closure of the dural defect

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.

International audienceTen to fifteen percent of couples are confronted with infertility and a male factor is involved in approximately half the cases. A genetic etiology is likely in most cases yet only few genes have been formally correlated with male infertility. Homozygosity mapping was carried out on a cohort of 20 North African individuals, including 18 index cases, presenting with primary infertility resulting from impaired sperm motility caused by a mosaic of multiple morphological abnormalities of the flagella (MMAF) including absent, short, coiled, bent, and irregular flagella. Five unrelated subjects out of 18 (28%) carried a homozygous variant in DNAH1, which encodes an inner dynein heavy chain and is expressed in testis. RT-PCR, immunostaining, and electronic microscopy were carried out on samples from one of the subjects with a mutation located on a donor splice site. Neither the transcript nor the protein was observed in this individual, confirming the pathogenicity of this variant. A general axonemal disorganization including mislocalization of the microtubule doublets and loss of the inner dynein arms was observed. Although DNAH1 is also expressed in other ciliated cells, infertility was the only symptom of primary ciliary dyskinesia observed in affected subjects, suggesting that DNAH1 function in cilium is not as critical as in sperm flagellum

Parvovirus B19 infection in Tunisian patients with sickle-cell anemia and acute erythroblastopenia

<p>Abstract</p> <p>Background</p> <p>Human parvovirus B19 is the etiologic agent of erythema infectiosum in children. It is also associated with other clinical manifestations in different target groups. Patients with chronic hemolytic anemia are at high risk of developing acute erythroblastopenia following infection by the virus. They usually become highly viremic and pose an increased risk of virus transmission. Close monitoring of such high risk groups is required for epidemiologic surveillance and disease prevention activities. Here we report a molecular epidemiological study on B19 virus infection in Tunisian patients with chronic hemolytic anemia.</p> <p>Methods</p> <p>This study was conducted on 92 young chronic hemolytic anemia patients who attended the same ward at the National Bone Marrow Transplantation Center of Tunis and 46 controls from a different hospital. Screening for IgM and IgG anti-B19 antibodies was performed using commercially available enzyme immunoassays and B19 DNA was detected by nested PCR in the overlapping <it>VP1/VP2 </it>region. DNA was sequenced using dideoxy-terminator cycle sequencing technology.</p> <p>Results</p> <p>Anti-parvovirus B19 IgG antibodies were detected in 26 of 46 sickle-cell anemia patients, 18 of 46 β-thalassemia and 7 of 46 controls. Anti-parvovirus B19 IgM antibodies were detected only in 4 of the sickle-cell anemia patients: two siblings and two unrelated who presented with acute erythroblastopenia at the time of blood collection for this study and had no history of past transfusion. B19 DNA was detected only in sera of these four patients and the corresponding 288 bp nested DNA amplicons were sequenced. The sequences obtained were all identical and phylogenetic analysis showed that they belonged to a new B19 virus strain of Genotype1.</p> <p>Conclusion</p> <p>A new parvovirus B19 strain of genotype1 was detected in four Tunisian patients with sickle-cell anemia. Virus transmission appeared to be nosocomial and resulted in acute erythroblastopenia in the four patients. The possibility of independent transmission of this B19 variant to the patients is unlikely in light of the present epidemiological data. However this possibility cannot be ruled out because of the low genetic variability of the virus.</p

Cytokine and immunoglobulin production by PWM-stimulated peripheral and tumor-infiltrating lymphocytes of undifferentiated nasopharyngeal carcinoma (NPC) patients

BACKGROUND: Undifferentiated Nasopharyngeal Carcinoma (NPC) patients show a characteristic pattern of antibody responses to the Epstein-Barr virus (EBV) which is regularly associated with this tumor. However, no EBV-specific cytotoxic activity is detectable by the standard chromium-release assay at both peripheral and intratumoral levels. The mechanisms underlying this discrepancy between the humoral and cellular immune responses in NPC are still unknown, but might be related to an imbalance in immunoregulatory interleukin production. In this report, we investigated the ability of peripheral (PBL) and tumor- infiltrating (TIL) lymphocytes of undifferentiated NPC patients to produce in vitro three interleukins (IL-2, IL-6, IL-10) and three immunoglobulin isotypes (IgM, IgG, IgA). METHODS: Lymphocytes from 17 patients and 17 controls were cultured in the presence of Pokeweed mitogen (PWM) for 12 days and their culture supernatants were tested for interleukins and immunoglobulins by specific enzyme-linked immunosorbent assays (ELISA). Data were analysed using Student's t-test and probability values below 5% were considered significant. RESULTS: The data obtained indicated that TIL of NPC patients produced significantly more IL-2 (p = 0,0002), IL-10 (p = 0,020), IgM (p= 0,0003) and IgG (p < 0,0001) than their PBL. On the other hand, patients PBL produced significantly higher levels of IL-2 (p = 0,022), IL-10 (p = 0,016) and IgM (p = 0,004) than those of controls. No significant differences for IL-6 and IgA were observed. CONCLUSION: Taken together, our data reinforce the possibility of an imbalance in immunoregulatory interleukin production in NPC patients. An increased ability to produce cytokines such as IL-10 may underlie the discrepancy between humoral and cellular immune responses characteristic of NPC