Papillary hyperfluorescence caused by traction of the vitreous body]

We present 4 clinical cases showing late dye leakage on the optic disc related to vitreous traction. Optic disc dye leakage disappeared following posterior vitreous detachment in one patient, delamination of the posterior hyaloid in two patients and segmentation of the posterior vitreous surface in one patient. Vitreous traction should be added to the previously described causes of optic disc dye leakage.     

Treatment of a large defect of the chest wall in a child using a negative pressure wound dressing.

Vacuum-assisted closure(VAC) is a simple wound healing tool in plastic surgery. We report a large thoracic defect in a child, in which the VAC was used to cover an exposed polytetrafluoroethylene prosthesis. The VAC saved the prosthesis and induced complete granulation of the wound, which healed completely in five weeks.     

Quantitative Analysis Reveals Expansion of Human Hematopoietic Repopulating Cells After Short-term Ex Vivo Culture

Ex vivo culture of human hematopoietic cells is a crucial component of many therapeutic applications. Although current culture conditions have been optimized using quantitative in vitro progenitor assays, knowledge of the conditions that permit maintenance of primitive human repopulating cells is lacking. We report that primitive human cells capable of repopulating nonobese diabetic (NOD)/severe combined immunodeficiency (SCID) mice (SCID-repopulating cells; SRC) can be maintained and/or modestly increased after culture of CD34⁺CD38⁻ cord blood cells in serum-free conditions. Quantitative analysis demonstrated a 4- and 10-fold increase in the number of CD34⁺CD38⁻ cells and colony-forming cells, respectively, as well as a 2- to 4-fold increase in SRC after 4 d of culture. However, after 9 d of culture, all SRC were lost, despite further increases in total cells, CFC content, and CD34⁺ cells. These studies indicate that caution must be exercised in extending the duration of ex vivo cultures used for transplantation, and demonstrate the importance of the SRC assay in the development of culture conditions that support primitive cells.     

CNV, stretch reflex and reaction time correlates of preparation for movement direction and force.

Ten human subjects were tested in a pre-cued choice reaction time (RT) paradigm in which the warning stimulus gave a varying amount of prior information regarding the direction (flexion or extension) or force level (weak or strong) for an impending right forearm movement. During the preparatory period (PP), either CNV was monitored from 8 scalp leads, or elbow stretch reflexes were tested at selected times using mechanical torque steps as stimuli. Mean RTs increased as the amount of prior information decreased. The locus of maximal rate of increase of scalp negativity migrated from the frontal lobe to the parietal lobe during the PP, under all conditions. Using laplacian derivations, it was found that the CNV at Cz did not distinguish among the different information conditions, whereas the CNV over the somatosensory arm area was greatest when direction information was given in advance. The CNV over the arm motor region was greatest when force information was available. The last 100 msec of the PP was characterized by the development of current sources over the premotor region for full information, and over the somatosensory region for the other conditions. This coincided with the appearance of very large late stretch reflexes or triggered reactions in the prepared agonist for full information, indicating that the intended movement had been fully processed by this time and awaited only a sensory trigger. The data support a parametric model of motor preparation, with direction and force being processed by at least partially independent networks.     

Sudden unexpected death in infancy: epidemiologically determined risk factors related to pathological classification

Infants that died suddenly and unexpectedly were studied as part of the European Concerted Action on sudden infant death syndrome (SIDS). Three paediatric pathologists, first independently of each other and later in a consensus meeting, classified 63 cases into 3 groups: SIDS (19 cases), borderline SIDS (30 cases) and non-SIDS (14 cases). The interobserver agreement among the pathologists before the consensus meeting was moderate (Kappa = 0.41) and jointly it was higher (Kappa = 0.83). The distribution of epidemiologically determined risk factors was studied over these three groups. Maternal smoking after birth, low socioeconomic status and thumb sucking were found more often in SIDS than in the other cases. Inexperienced prone sleeping was a determinant for SIDS, but not for non-SIDS. Previous hospital admission, low birthweight and/or short gestation were associated with borderline SIDS. Non-SIDS cases received more breastfeeding, the parents hardly smoked during pregnancy and after birth, a firm mattress had been used, and more often signs of illness had been reported by the parents, compared with the SIDS and borderline SIDS cases. Bedding factors and both primary and secondary prone sleeping were equally distributed over the three groups which supports the hypothesis that, in SIDS and borderline SIDS, as well as in non-SIDS cases, some similar external and preventable factors might influence the events leading to death. Research should therefore focus on all sudden unexpected deaths, after which subgroups such as SIDS cases can be separately analysed. The postmortem is an essential part of the whole work-up of each case and the results should be interpreted with all other available data to arrive at a sound evaluation of cases and thus form the basis for the prevention of all sudden unexpected infant death.     

Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families]

Mucopolysaccharidosis type I (MPS I) is a lysosomal disease due to mutations in the gene encoding alpha-l-iduronidase (IDUA) leading to variable clinical phenotypes with progressive severe organomegaly, bone and neurological involvement in the most severe forms. The aim of our study was to propose in Tunisia a strategy of molecular and prenatal diagnosis of the MPS I. POPULATION AND METHODS: Our study was carried out on 8 MPS I patients recruited from different Tunisian regions and issued from 5 unrelated families. All the patients were offspring of consanguineous marriages. RESULTS: The clinical and biological study led to diagnose 5 Hurler patients and 3 Hurler-Scheie patients. Three IDUA mutations were identified by molecular analysis within 6 different families: a novel mutation p.F602X and 2 already described mutations p.P533R and p.R628X. DISCUSSION: MPS I is a heterogeneous disease characterized by variability of the phenotypes. The missense mutation p.P533R associated with the intermediate phenotype was the most frequent in the Tunisian but also in the Moroccan population. In Tunisia, the incidence of p.P533R mutation seems to be associated with the high frequency of consanguineous marriages. CONCLUSION: The identification of known MPS I mutations (p.P533R and p.R628X) and of the novel mutation p.F602X permits reliable genetic counselling of at-risk relatives and molecular prenatal diagnosis.     

Late recurrences after successful surgery for retinal detachment with macular hole

Six myopic eyes affected by retinal detachment with macular hole which had been successfully reattached developed recurrent retinal detachment 7–78 months postoperatively. The mean interval between surgery and the recurrent retinal detachment was 13.4 months in five eyes managed with gas tamponade and no choroidal irritation. In an eye managed by scleral buckling with choroidal irritation, the recurrent retinal detachment occurred 78 months postoperatively. The retina was reattached following reoperation in all eyes. However, an eye successfully reattached without choroidal irritation developed four recurrences during the follow-up period. The pathogenesis of late recurrences after successful surgery for retinal detachment with macular hole remains speculative. A number of clinical findings suggest that vitreous traction plays a decisive role.     

Evaluation of Doppler examination for diagnosis of catheter-related deep vein thrombosis

The accuracy of Doppler examination was evaluated for the diagnosis of catheter-related venous thrombosis in 40 postoperative patients. Deep vein thrombosis was detected by venography in 15 patients and confirmed by the Doppler technique in a double blind study. Only one false-positive and one false-negative result were obtained with the Doppler technique. This technique appears to be valuable for the early diagnosis of catheter-related vein thrombosis, even in asymptomatic patients.