Lumbar spinal fluid collections in children treated with intrathecal chemotherapy: elevated CSF protein as a diagnostic clue

Subdural fluid collections can interfere with the effective intrathecal administration of chemotherapy by lumbar puncture (LP). We detected this complication in six children who were treated for acute lymphoblastic leukemia (ALL) and presented with an elevated protein concentration of the cerebrospinal fluid (CSF) during routine LP. Contrary to expectation the lumbar fluid collections persisted in two cases and in one case required the insertion of an Ommaya reservoir to continue intrathecal chemotherapy. Awareness and detection of this complication by imaging is important because of its potential to interfere with effective CNS-directed chemotherapy of ALL.     

Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing

Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is one of the commonest cancer susceptibility syndromes. It is characterized by early onset colon cancer and a variety of extracolonic tumours. Germline mutations in the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS1, and PMS2) are responsible for this disorder. Identifying an affected individual depends on the tumour histopathology, family history that fulfils the Amsterdam and/or Bethesda criteria, tumour immunohistochemistry, microsatellite instability, and finally molecular analysis of an affected member. It is a laborious, time consuming and expensive procedure, which needs the effort of a multi-disciplinary team. However, once the diagnosis is established and germline defect is identified, other high risk pre-symptomatic carriers could be offered intensive surveillance and management as a preventive measure against cancer development. Here, we present two large highly consanguineous HNPCC-families from Kuwait in whom a founder MSH2 mutation was identified. The relationship between this mutation and cancer expressivity in two large consanguineous families harbouring other genetic defects is discussed. Moreover, we shed light on the challenges pertaining to diagnosis, screening, premarital counselling of couples and prenatal diagnosis of offspring with biallelic MSH2 gene mutation.     

Fatigue and severity of rheumatoid arthritis in Moroccan patients

The aim of this study was to assess fatigue aspects in Moroccan patients with rheumatoid arthritis (RA) and its relationships with disease-specific variables especially parameters of functional and structural severity. A total of 248 patients with RA were included. Patients’ and disease characteristics were identified. Disease activity was measured clinically using physical examination, biologically and by the disease activity scores (DAS28). Radiographs were evaluated by using Sharp’s method as modified by van der Heijde. Functional disability was measured by using the Moroccan version of Health Assessment Questionnaire (HAQ). Immunological abnormalities and treatment (doses and duration) were identified. Fatigue was evaluated by using a 0–100 visual analogue scale (VAS fatigue) and the multidimensional assessment of fatigue (MAF). Quality of life (QoL) was assessed using the Arabic version of the generic instrument SF-36. The mean age of patients was 47.5?±?11.7?years [25–72]; 37.5% of patients had a high activity of disease and 11.3% were in remission. The mean Sharp score was 107.13?±?91, and the mean score of HAQ was 1.40?±?0.63. All domains of QoL were deteriorated; 89.51% of our patients experienced fatigue. The mean total score of MAF was 30.21?±?11.32. A low level of education, low socioeconomic status, atlantoaxial subluxation, hip involvement, the presence of a Sj?gren syndrome, and cigarette smoking had a negative impact on fatigue scores. The severity of fatigue was correlated with the duration of RA, the intensity of joint pain, the activity of disease, the importance of structural damage, the degree of functional impairment, and the rate of anti-cyclic citrullinated protein (CCP) antibodies (P?<?0.05). Patients receiving methotrexate had better scores of fatigue. Also, severity of fatigue was correlated with the deterioration of all domains of QoL. Fatigue is a major issue for our patients with RA and must be included in the routine assessment of patients. In our sample, fatigue appears to be related to disease activity, functional disability, structural damage, and immunological status and had a negative impact on QoL.     

Exclusion of a submitral pseudoaneurysm by a conservative transmitral approa—Surgical technique for an unusual disease

Cardiac pseudoaneurysm is a contained rupture of the cardiac wall. Rarely symptomatic, the risk of death by stroke or rupture is high and suggests surgical treatment. Surgical strategy depends on its anatomical considerations. We reported the case of a submitral pseudoaneurysm. We excluded it by a conservative transmitral approach, without any short- and long-term complication.