1/6. Evaluating a computer system used as a microswitch for word utterances of persons with multiple disabilities.PURPOSE: To assess the effectiveness of a computer system used as a microswitch for word utterances of two adults with multiple disabilities. The system combined a new control software programme with a commercially available speech recognition programme. METHOD: Nine word utterances were targeted for each participant. The participant's emission of those utterances triggered the occurrence of related (favourite) stimuli during the intervention and the post-intervention check. RESULTS: Intervention data showed that (1) the participants increased the frequencies of the target utterances and (2) the computer system recognized about 80% of those utterances correctly, providing the participants with high levels of favourite stimulation. The post-intervention check showed comparable data with both participants. CONCLUSIONS: The computer system proved an adequate microswitch for word utterances. Based on this evidence, microswitch programmes could be extended beyond the use of conventional motor responses.- - - - - - - - - - ranking = 1keywords = programme (Clic here for more details about this article) |
2/6. Early fetal akinesia deformation sequence: a case report with unusual autoptic features.In this paper we report a case of early onset fetal akinesia, with unusual pathological findings. This is a product of medical abortion of young, healthy, unrelated parents. The mother's obstetrical history revealed two previous early miscarriages and a suspicion of FADS in the second previous gestation. At 17 weeks of gestation, an ultrasound examination disclosed absence of fetal movements, fixed extended knees and deformation of the feet. amniocentesis showed a normal 46, XX karyotype. hydrops fetalis and multiple skin webs (pterygia), which are usually present in cases of early fetal akinesia, were absent. A diagnosis of arthrogryposis was made and the pregnancy was terminated at 17 weeks of gestation. Postmortem examination was performed according to the necropsy technique suggested by Langley. Thus, body weight and external measurement, including crown-rump, crown-heel, foot lengths, head, thorax and abdominal circumferences were estimated and compared with standard values for assessment of fetal growth. External dysmorphic features were evaluated prior to the evisceration. On internal examination the location and shape of every organ was evaluated. Every organ, skin, muscles from different parts of the body, the brain and spinal cord were sampled and histologically examined. External examination revealed a female fetus with marked muscular hypoplasia of upper and lower extremities with thin arms and legs and multiple joint contractures of lower extremities. The face showed a flattened nose, micrognatia, hypertelorism, cleft palate and low-set ears. There was also a small nuchal fold. The abdomen was distended with a very thin and almost transparent wall. Histologically, muscles were characterized by severe fibrosis with fatty infiltration and by moderate variability in diameter of muscle fibers. The spinal cord disclosed a paucity of anterior horn motor neurons. We suggest multiple pterygium as a diagnosis. Lethal multiple pterygium syndrome (LMPS) is only a symptom and the precise diagnosis is more likely to be spinal atrophy. We, moreover believe that the paucity of spinal motoneurons could be due to the anomalies of programmed death during fetal development and the consequence of genetic defects.- - - - - - - - - - ranking = 0.33333333333333keywords = programme (Clic here for more details about this article) |
3/6. Isolated and syndromic cryptophthalmos.The association between cryptophthalmos and multiple congenital malformations has been well documented over the last century. Numerous authors have described cases as the cryptophthalmos syndrome, but recently reports of cases without cryptophthalmos have led several authors to use the eponymic designation fraser syndrome. We have seen seven cases of cryptophthalmos syndrome, including three sib pairs. All presented with cryptophthalmos and bilateral renal agenesis in addition to other characteristic associated malformations. A literature review showed 124 cases in which 27 demonstrated isolated cryptophthalmos, while 97 showed a pattern of multiple congenital malformations. We selected four major and eight minor criteria which enabled us to classify 86 of those cases as having cryptophthalmos syndrome with 11 remaining unclassified. Cryptophthalmos demonstrates equal sex distribution, occurrence in sibs, consanguinity in families with more than one affected child, and lack of vertical transmission--strongly suggesting autosomal recessive inheritance. Isolated cryptophthalmos or cryptophthalmos sequence was sporadic in 16 cases and familial in 11. The familial cases occurred in three families and demonstrated vertical transmission. The pathogenesis of this syndrome is unknown. There are similarities to animal models of maternal vitamin a deprivation and defects in programmed cell death. Cryptophthalmos syndrome should be considered in the differential diagnosis of cases with multiple congenital malformations, especially when they are associated with renal agenesis, even in the absence of cryptophthalmos.- - - - - - - - - - ranking = 0.33333333333333keywords = programme (Clic here for more details about this article) |
4/6. First case of deletion 14q11.2q13: clinical phenotype.The first case of interstitial deletion 14q11.2q13 is related. The patient showed a severe neurological picture, microcephaly, right plagiocephaly, bilateral cryptorchidy, left hip subluxation and various dysmorphisms. The authors analyzed the characteristic symptoms in order to obtain the specific clinical phenotype. In addition they programmed a clinical follow-up to evaluate the life expectation and the evolution of the disease.- - - - - - - - - - ranking = 0.33333333333333keywords = programme (Clic here for more details about this article) |
5/6. Hypothesis: patient with possible disturbance in programmed cell death.Programmed cell death is a physiological process in mammalian development by which specific types of cells are eliminated, and, hence, is of fundamental importance in normal human embryogenesis. A patient is described with multiple congenital anomalies that may be explained by a disturbance of programmed cell death. Anomalies included macrocephaly, hypoplastic lacrimal ducts, narrow external ear canals, pharyngeal mucous membrane fold, unilateral cryptorchidism, cord-like vasa deferentia, and complete cutaneous syndactyly of the hands and feet.- - - - - - - - - - ranking = 1.6666666666667keywords = programme (Clic here for more details about this article) |
6/6. Congenital tibial aplasia with preaxial polydactyly. A case report.An anatomical study of a left lower limb with congenital tibial aplasia and preaxial polydactyly amputated at 10 months of age was carried out. The tibia was replaced by a fibrous band (a band of connective tissue) and there were four cuneiforms, six metatarsal bones and seven toes. The second metatarsal bone showed characteristics of the hallux. An intermuscular septum which showed an orifice for the anterior tibial artery was found on the medial side of the leg and foot. All the muscles of the leg and foot were present except for the tibialis posterior muscle, which was replaced by two atypical muscles. No muscular attachments reached the fibrous band. Several intertendinous connection bands were found. Also, an accessory muscular belly split from the tibialis anterior tendon and attached to the common flexor tendinous sheet of the foot. An unusual motor branch of the deep peroneal nerve ran together with this belly to supply the intrinsic muscles of the hallux. We also observed other minor anomalies of the nerve pattern. The arterial pattern was complete, except for some arteries which showed both an anomalous origin and course. The findings of this study suggest that the development of the skeletal elements plays an important role in the differentiation of the muscles, tendons, arteries and nerves. We postulate that a dysmorphogenic event involving the development of the tibial field of the limb could give rise to both defective histodifferentiation of the tibia and defective programmed cell death in the pre-hallucial anlage. These anomalies would determine secondary adaptations of muscles, tendons, vessels and nerves of the limb.- - - - - - - - - - ranking = 0.33333333333333keywords = programme (Clic here for more details about this article) |