A case of preserved fertility in an hemodialyzed patient with systemic lupus erythematosus

BACKGROUND: Pregnancy and child birth in haemodialysis remains a rare event, even more, when pregnancy occurs in patient with systemic lupus erythematosus (SLE). AIM: We report a case of a patient with end stage renal failure secondary to SLE and who carried out 3 pregnancies. CASE REPORT: She was a woman with proliferative and diffuse lupus glomerulonephritis since 1985 treated by corticosteroids and cyclophosphamide. In 1995, she developed chronic renal failure. In 1996, she underwent a 1st full term spontaneous pregnancy with normal birth weight. In 2001, she underwent a second spontaneous pregnancy while she was on periodic haemodialysis. She had a full term baby birth with a birth weight at 1 Kg 700 and who died 4 days later. In 2002, she had a third pregnancy with voluntary abortion at 8 weeks. CONCLUSION: Our patient had conserved fertility despite treatment by cyclophosphamide, chronic renal failure and haemodialysis. The two successful deliveries may be attributed to the control of SLE activity and to the adequacy of haemodialysis.     

Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity

Runs of homozygosity (ROHs) are extended genomic regions of homozygous genotypes that record populations’ mating patterns in the past. We performed microarray genotyping on 15 individuals from a small isolated Tunisian community. We estimated the individual and population genome‐wide level of homozygosity from data on ROH above 0.5 Mb in length. We found a high average number of ROH per individual (48.2). The smallest ROH category (0.5–1.49 Mb) represents 0.93% of the whole genome, while medium‐size (1.5‐4.99 Mb) and long‐size ROH (≥5 Mb) cover 1.18% and 0.95%, respectively. We found that genealogical individual inbreeding coefficients (F_ped) based on three‐ to four‐generation pedigrees are not reliable indicators of the current proportion of genome‐wide homozygosity inferred from ROH (F_ROH) either for 0.5 or 1.5 Mb ROH length thresholds, while identity‐by‐descent sharing is a function of shared coancestry. This study emphasizes the effect of reproductive isolation and a prolonged practice of consanguinity that limits the genetic heterogeneity. It also provides evidence of both recent and ancient parental relatedness contribution to the current level of genome‐wide homozygosity in the studied population. These findings may be useful for evaluation of long‐term effects of inbreeding on human health and for future applications of ROHs in identifying recessive susceptibility genes.     

The intermetacarpal double pinning in the surgical treatment of Bennett fracture (report of 24 cases)

ObjectivesThe interest of this work is to show the benefits of surgical treatment of Bennett fractures by intermetacarpal double pinning.Patients and methodsIt is a retrospective study of 24 cases of Bennett fracture treated by intermetacarpal double pinning, between January 2005 and December 2009. The treatment was surgical for all patients. The intermetacarpal double pinning using the technique of Iselin has been reserved for fractures with small fragment found in the series in 18 cases (72% of operated patients), and by Tubiana in six cases (24%).ResultsAfter a mean of 36 months, we could follow only 21 patients, the evaluation of results was based on clinical criteria relevant to pain, mobility and the pinch grip, and on criteria after radiological analysis of radiographs specific trapezo-metacarpal. All fractures were consolidated. Two cases of moderate osteoarthritis were observed. Overall, the results were excellent in 15 patients (71%), good in four patients (19%) and poor in two patients (10%).ConclusionIntermetacarpal double pinning is a technique of choice in surgical treatment of Bennett fracture. It ensures a good closed reduction and a satisfactory functional result.     

MRI of the cervical spine. Creation of a surface coil. Technical and clinical results

Cervical myelopathy represents a good indication for study by Magnetic Resonance Imaging (MRI). The MRI examination may be performed without hospitalisation and without any pain or risk for the patient. It often gives sufficient information to decide whether to proceed with surgical intervention, after imaging on standard plain films and ever before cervical myelography. An efficient study of the cervical spinal cord requires special surface coils adapted to this region. We have developed a surface coil, working as a receiver, inductively coupled, tuned and matched all at once, and easy to use. The concave form of this coil has been studied so as to be comfortable for all patients. It can be directly connected to our Thomson CGR machines (Magniscan 5000). In continuous routine use for 6 months, without any problems, it has been found to be very reliable. We present here some results on different types of myelopathy and discuss methodological aspects concerning the choice of acquisition parameters in the examinations. The simplicity of its realisation and the low cost leads us to believe that it will be possible to construct other surface coils convenient on many other parts of the body.     

Activation of myc gene family in human lung carcinomas and during heterotransplantation into nude mice.

myc gene family activation (c-myc, L-myc, and N-myc) was examined in 26 human lung carcinomas and in their corresponding xenografts in nude mice. Of the 16 neuroendocrine (NE) carcinomas studied, amplification was observed in 4 with a c-myc probe and in 1 with both L- and N-myc probes. Overexpression was found in 1 of 7 cases studied for c-myc mRNA, in 1 of 7 cases for N-myc, and in 2 of 7 cases for L-myc. Of the 10 non-small cell lung carcinomas studied, only c-myc was amplified in 1 case and overexpressed in 5 of 7 cases. These results suggest that L- and N-myc gene activation are restricted to NE carcinomas. Over-expression of the myc gene without amplification was detected in 36% of cases. During heterotransplantation, there was a 27% change in myc gene abnormality and a 57% increase in myc expression levels, mostly in NE carcinomas (5 of 7; 71%). In a total of 42 xenografted lung carcinomas studied, 45% amplification and 77% overexpression of one of the myc genes were detected with a high prevalence of L-myc overexpression in NE carcinomas (50%) and of c-myc overexpression in non-small cell lung carcinomas (66%). Finally, 19 of 26 (73%) tumors are growing in nude mice with no myc gene amplification and 43% with no myc mRNA overexpression. Thus myc gene activation is not strictly required for heterotransplantation but seems to be a favorable factor in the maintenance and progression of lung carcinomas in vivo.     

Changes induced by levodopa and subthalamic nucleus stimulation on parkinsonian speech.

Levodopa (L-dopa) and subthalamic nucleus (STN) stimulation treatments have been associated with both improvement and exacerbation of dysarthria in Parkinson's disease (PD). We report four cases illustrating variant responses of dysarthria to dopaminergic and STN stimulation therapies. Patients' motor disability and dysarthria were perceptually rated by the Unified Parkinson's Disease Rating Scale (UPDRS) in four conditions according to medication and STN stimulation. Dedicated software packages allowed acquisition and analysis of acoustic recordings. Case 1, who had a severe off period aphonia, experienced improvement of speech induced by both levodopa and STN stimulation. In Case 2, both treatments worsened speech due to the appearance of dyskinesias. Case 3 had a dysarthria exacerbation induced by STN stimulation with parameters above optimal levels, interpreted as current diffusion from the STN to corticobulbar fibers. In Case 4, dysarthria exacerbation occurred with stimulation at an electrode contact located caudally to the target, also arguing for current diffusion as a potential mechanism of speech worsening. The presented cases demonstrated variant effects in relation to L-dopa and STN stimulation on speech. It seems that motor speech subcomponents can be improved like other limb motor aspect, but that complex coordination of all speech anatomical substrates is not responsive to STN stimulation. These hypotheses may be helpful for better understanding and management of STN stimulation effects on motor speech and skeleton-motor subsystems.