Left laterotracheal retrosternal goiter with left upper limb ischemia

We describe a rare case of retrosternal goiter that developed on the left side of the trachea, squeezing between the trachea and the left supra-aortic vessels, and causing signs of compression and acute left upper limb ischemia in a 35-year-old woman. Her symptoms disappeared after an emergency total thyroidectomy was performed.     

Psychometric evaluation of the Moroccan version of the Bath Ankylosing Spondylitis Functional Index (BASFI) and Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) for use in patients with ankylosing spondylitis

The objectives of this study are to translate, adapt in the Moroccan cultural context, and validate in patients with ankylosing spondylitis (AS) the Bath Ankylosing Spondylitis Functional Index (BASFI) and Bath Ankylosing Spondylitis Disease Activity Index (BASDAI). The cross-cultural adaptation of the BASFI and BASDAI was obtained in accordance with the guidelines for translation of the health status measures. Eighty-five patients with AS were included in the study. The test–retest reliability and the internal consistency were analyzed, and both questionnaires were assessed for external construct validity. Structural validity was analyzed with correlation matrix. Twenty-four-hour test–retest reliability was good: BASFI intraclass correlation coefficient (ICC) = 0.96 (confidence interval (CI) at 95%, 0.93–0.97), BASDAI ICC = 0.93 (CI at 95%, 0.90–0.95). Cronbach’s alpha was 0.90 for the BASFI and 0.86 for BASDAI. The construct validity of the instruments was evaluated. The BASFI showed a strong validity when correlating its results with Schober’s test (r = −0.56), occipital wall distance (r = 0.46), chest expansion (r = −0.46), BASDAI (r = 0.54), Bath Ankylosing Spondylitis Metrology Index (r = 0.70), Bath Ankylosing Spondylitis Global Score (BAS-G; r = 0.58), Bath Ankylosing Spondylitis Radiology Index (r = 0.61), and the radiological changes in sacroiliac joints (r = 0.54). A good correlation was observed between the BASDAI and the spinal pain (r = 0.53), the number of nocturnal awakenings (r = 0.57), the morning stiffness (r = 0.65), the enthesic index (r = 0.47), the BAS-G (r = 0.53), the BASFI (r = 0.54), and the erythrocyte sedimentation rate (r = 0.41; for all p < 0.001). The correlation matrix showed an intermediate correlation between items. The Moroccan version of the BASFI and the BASDAI showed adequate reliability and validity. These instruments can be used in the clinical evaluation of Moroccan and Arabic-speaking patients with AS.     

Late effects of a perinatal exposure to a 16 PAH mixture: Increase of anxiety-related behaviours and decrease of regional brain metabolism in adult male rats

Polycyclic Aromatic Hydrocarbons (PAHs) are ubiquitous pollutants originated from incomplete combustion processes. Ingestion of contaminated food is the main route of exposure for humans. These molecules are able to cross the placental barrier and are also found in breast milk. Since PAHs are neurotoxic agents, the potential adverse effects of a perinatal exposure of the developing brain is a key issue for public health especially concerning PAH mixture. In this study, female rats were exposed trough diet to a mixture of 16 PAHs, at doses of 2 μg/kg/day or 200 μg/kg/day during gestation and 1.5 μg/kg/day or 150 μg/kg/day during breast-feeding period. To assess late neurotoxic effects in male offsprings, behavioural and cognitive tests were carried out and histochemical analyses using cytochrome oxidase as a cerebral metabolism marker were performed on adult animals. Results showed that anxiety-related behaviours significantly increased in exposed animals, but there was no significant alteration of motor activity and learning and memory abilities. Several brain areas of the limbic system showed a neuronal hypometabolism in exposed animals. This work highlights that exposure to PAHs at early stages of brain development can cause later troubles on behaviour and that PAHs are able to partly alter the central nervous system metabolism on adulthood.     

Human papillomavirus (HPV) DNA triage of women with atypical squamous cells of undetermined significance with Amplicor HPV and Hybrid Capture 2 assays for detection of high-grade lesions of the uterine cervix

Up to 20% of women having a cytology smear showing atypical squamous cells of undetermined significance (ASC-US) and infected with high-risk human papillomavirus (HR HPV) have high-grade cervical intraepithelial neoplasia (CIN 2/3). Results obtained with the Amplicor HPV and Hybrid Capture 2 (HC-2) assays for HR HPV DNA detection in women referred to colposcopy for an ASC-US smear were compared. Cervical samples in PreservCyt were tested for the presence of 13 HR HPV types with HC-2, with Amplicor at three cutoffs for positivity (0.2, 1.0, and 1.5 optical density units), and for 36 genotypes with the Linear Array (LA). Of 396 eligible women, 316 did not have CIN, 47 had CIN 1, 29 had CIN 2/3, and 4 had CIN of unknown grade. HR HPV was detected in 129 (32.6%) and 164 (41.4%) samples with HC-2 and Amplicor HPV (cutoff, 0.2), respectively (P = 0.01). Overall, 112 specimens were positive and 215 were negative with the HC-2 and Amplicor HPV assays (agreement of 82.6%; 95% confidence interval [CI], 78.5 to 86.0). The clinical sensitivity and specificity of Amplicor HPV at cutoffs of 0.2, 1.0 and 1.5 and of HC-2 for detection of CIN 2/3 were 89.7% (95% CI, 72.8 to 97.2) and 62.5% (95% CI, 57.5 to 52.4), 89.7% (95% CI, 72.8 to 97.2) and 64.5% (95% CI, 59.4 to 69.2), 89.7% (95% CI, 72.8 to 97.2) and 64.7% (95% CI, 59.7 to 69.5), and 93.1% (95% CI, 77.0 to 99.2) and 72.2% (95% CI, 67.4 to 76.5), respectively. Both HR HPV detection tests identified women with ASC-US who would benefit the most from colposcopy. Women with persistent HR HPV infection need further investigation despite a first normal colposcopy.     

The Impact of Launching Surgery at the District Level in Niger

Background  

In 2005, the Ministry of Health in association with the Faculty of Medicine of Niamey decided to launch surgery at the district hospital (DH) level as part of the health strategy for the country. Surgical procedures were provided by general practitioners who received 12 months of training in basic surgery.     

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome

Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome is a multi-system autosomal recessive disorder caused by germline mutations in VPS33B. The detection of germline VPS33B mutations removes the need for diagnostic organ biopsies (these carry a>50% risk of life-threatening haemorrhage due to platelet dysfunction); however, VPS33B mutations are not detectable in approximately 25% of patients. In order further to define the molecular basis of ARC we performed mutation analysis and mRNA and protein studies in patients with a clinical diagnosis of ARC. Here we report novel mutations in VPS33B in patients from Eastern Europe and South East Asia. One of the mutations was present in 7 unrelated Korean patients. Reduced expression of VPS33B and cellular phenotype was detected in fibroblasts from patients clinically diagnosed with ARC with and without known VPS33B mutations. One mutation-negative patient was found to have normal mRNA and protein levels. This patient's clinical condition improved and he is alive at the age of 2.5 years. Thus we show that all patients with a classical clinical course of ARC had decreased expression of VPS33B whereas normal VPS33B expression was associated with good prognosis despite initial diagnosis of ARC.     

A case of thyroid hormone resistance: Prospective follow-up during pregnancy and obstetric outcome

We describe the case of a patient with resistance to thyroid hormone (R243W substitution) and her obstetric outcome. The patient gave birth to a healthy girl, unaffected by the R243W mutation. Two years later, following an uneventful pregnancy, a baby boy was born at term; he presented the same thyroid hormone receptor mutation as his mother. Follow-up of gestational thyroid hormone levels is reported during both pregnancies and related to obstetric outcome.