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Background: Individuals with MS undergoing immunoablative therapy and hematopoietic stem cell transplantation (HSCT) show substantial decrease in brain volume over 2.4 months, presumably from chemotoxic effects, although other mechanisms have also been postulated., Objective: We examined whether volume loss was accompanied by a concomitant decrease in cognition. White and gray matter volumes, and the effect of stem cell dosage were considered., Methods: Seven individuals with rapidly progressing MS and poor prognosis underwent high dose immunosuppression and autologous HSCT. Neuropsychological testing and MRI scans were performed at baseline, 2 and 24 months post-procedure., Results: Cognitive impairment was noted at all times in most participants. Median decline of 1.39% in total brain volume was noted 2 months post-HSCT. By 24 months a further decline of 1.65% was noted. At 2 months significant decline was observed for areas of executive functioning. At 24 months almost no significant declines were noted. No significant correlations were found between cognitive decline and change in imaging variables or stem cell dosage., Conclusions: Cognition changed in the early period following treatment but with little apparent relationship to volume changes. With temporal distance from the HSCT procedure, cognition returned to baseline levels. With the caution of a very small sample, preliminary results suggest that immunoablation and HSCT may have no lasting deleterious effects on cognition., (© 2013 Elsevier B.V. All rights reserved.)

Objective: To evaluate clinical presentation, optimal diagnostic evaluation and treatment, and outcome in primary leptomeningeal lymphoma, a rare form of primary CNS lymphoma without parenchymal or systemic involvement., Methods: The International Primary CNS Lymphoma Collaborative Group, a multidisciplinary group of physicians with a particular interest in primary CNS lymphoma, retrospectively identified cases of lymphoma isolated to the leptomeninges as diagnosed by CSF cytology, flow cytometry, or biopsy, without systemic or parenchymal brain/spinal cord lymphoma or immunodeficiency., Results: Forty-eight patients were identified, with median age at diagnosis of 51 years and median Eastern Cooperative Oncology Group performance status of 2. Presenting symptoms were multifocal in 68%. Leptomeningeal enhancement was seen in 74% and CSF profile was abnormal in all cases. CSF cytology detected malignant lymphocytes in 67%. Flow cytometry identified monoclonal population in 80%, as did receptor gene rearrangement studies in 71%. Sixty-two percent had B-cell lymphoma, 19% T-cell, and 19% unclassified. Treatment varied and included fractionated radiotherapy (36%), systemic chemotherapy (78%), and intra-CSF chemotherapy (66%), with 66% receiving ≥ 2 modalities. Seventy-one percent had a favorable clinical response; ultimately, 44% received salvage treatment. Median overall survival was 24 months, with 11 patients still alive at 50 months follow-up., Conclusion: Primary leptomeningeal lymphoma is a rare form of primary CNS lymphoma. Patients usually present with multifocal symptoms, with evidence of leptomeningeal enhancement and diagnostic CSF analysis. Although treatment is highly variable, patients have a better prognosis than previously reported and a subset may be cured.

The Relative Consequence Model proposes multiple sclerosis (MS) patients have a fundamental deficit in processing speed that compromises other cognitive functions. The present study examined the mediating role of processing speed,as well as working memory, in the MS-related effects on other cognitive functions for early relapsing-remitting patients. Seventy relapsing-remitting MS patients with disease duration not greater than 10 years and 72 controls completed tasks assessing processing speed, working memory, learning, and executive functioning. The possible mediating roles of speed and working memory in the MS-related effects on other cognitive functions were evaluated using structural equation modeling. Processing speed was not significantly related to group membership and could not have a mediating role. Working memory was related to group membership and functioned as a mediating/intervening factor. The results do not support the Relative Consequence Model in this sample and they challenge the notion that working memory impairment only emerges at later disease stages. The results do support a mediating/intervening role of working memory. These results were obtained for early relapsing-remitting MS patients and should not be generalized to the broader MS population. Instead, future research should examine the relations that exist at other disease stages.

We report on a child with Jacobsen syndrome (JBS, OMIM 147791) and abnormalities consistent with Beckwith-Wiedemann syndrome (BWS, OMIM 130650). The constitutional karyotype was apparently normal, but FISH analysis with probes specific for the short and long arms of chromosome 11 found 11qter deletion with 11pter trisomy in 80% of the cells studied. Array-CGH identified breakpoints in the 11p15.3 and 11q24.1 regions consistent with Jacobsen and Beckwith-Wiedemann syndromes. We suggest that this chromosome imbalance results from a pericentric inversion of chromosome 11 inherited from the father, with mosaicism resulting from meiotic recombination of a paternal inversion followed by mitotic recombination during the first embryonic divisions. This hypothesis is supported by the results of microsatellite marker analysis. Three previous cases of pericentric inversion and recombination of chromosome 11 have been reported. Our case is unusual in that it combines the Jacobsen and Beckwith-Wiedemann syndromes with mosaicism., (Copyright © 2013 Wiley Periodicals, Inc.)

Objectives: The purpose of this study was to investigate the ability of young and old subjects to reweight visual cues while walking at normal and fast speeds., Methods: Ten young (23.49 ± 4.72) and ten older adults (age 76.22 ± 3.11) were asked to physically walk straight while viewing a virtual scene in a head-mounted display (HMD) unit under three conditions: no visual perturbation, blank (no visual input), and visual perturbation. Subjects performed the tasks walking at two speeds: preferred self-pace and fast. Variables calculated included trajectory, heading angle, and body segment orientations., Results: In the perturbation condition, the older adults walked with higher segmentation and more deviations of the body's centre of mass. Only the young subjects were affected by the walking speed, with an improved performance when walking fast., Conclusions: Old age affects the ability to re-weight visual information and make postural or locomotor adjustments in real time. The lower errors of the young adults in the fast conditions suggest decreased cortical control of locomotion with increasing speeds., Significance: Visual information presented in real time can impact on balance and mobility in older adults, and thus should be given serious consideration for the purpose of evaluation and intervention., (Copyright © 2011. Published by Elsevier Ireland Ltd.)

Reduction in information processing speed (IPS) is a key deficit in multiple sclerosis (MS). The Paced Auditory Serial Addition Test (PASAT), Symbol Digit Modalities Test (SDMT), and Computerized Test of Information Processing (CTIP) are used to measure IPS. Both the PASAT and SDMT are sensitive to deficits in IPS. The CTIP, a newer task, also shows promise. The PASAT has several limitations, and it is often perceived negatively by patients. Yet little supporting quantitative evidence of such perceptions has been presented. Therefore, in this study, subjective ratings of likeability, difficulty, and appropriateness of the PASAT, CTIP, and SDMT were obtained. Ratings were compared between MS patients and healthy controls. It was hypothesized that ratings of the PASAT would differ significantly from those of the SDMT and CTIP. The relationship between subjective ratings and objective performance was evaluated. Sixty-nine MS patients and 68 matched controls rated the three tests in terms of likeability, difficulty, and appropriateness for capturing cognitive deficits often associated with MS using a Likert scale. Both groups rated the PASAT as most difficult and least likeable. The MS group rated the PASAT and SDMT as more appropriate for measuring MS-related deficits than the CTIP. Subjects who performed better on the PASAT were more likely to rate it as easier. Ratings of the SDMT and CTIP did not vary consistently with performance. The findings lend quantitative support to the common belief that the PASAT is perceived as unpleasant. Other tests are available that are similarly sensitive to deficits in IPS and more palatable to the patient.

Background: Fatigue is a frequently reported and debilitating symptom in multiple sclerosis (MS). Cognitive fatigue (CF) can be defined as decreased performance with sustained cognitive effort. The effectiveness of the Paced Auditory Serial Addition Task (PASAT) and the Computerized Test of Information Processing (CTIP) at detecting CF was examined, as was the impact of methodology. Subjective fatigue was measured using the Fatigue Impact Scale (FIS). The relationship between objective and subjective fatigue was examined., Methods: 70 MS and 72 healthy controls (HC) completed the PASAT (3″ and 2″), CTIP, and FIS as part of a larger battery., Results: The MS and HCs performed worse on cognitively demanding tasks. Depending on methodology, PASAT performance varied between groups at the 3″ inter-stimulus interval (ISI) and the MS group showed greater susceptibility to CF as their ability to meet task demands declined as the task progressed. CTIP performance for both groups varied differently over time depending on task. The relationship between subjective and objective measures of fatigue varied depending on methodology, with PASAT generally correlating well with the Cognitive Dimension of the FIS., Conclusions: The PASAT is a sensitive measure of CF in MS. Additional information is obtained with different scoring methods, with percent dyad scoring method being most sensitive to CF. The ability to detect a relationship between objective and subjective measures varied with methodology., (Copyright © 2012 Elsevier B.V. All rights reserved.)

Background: The most commonly used method for unstable slipped capital femoral epiphysis (SCFE) remains in situ fixation. Depending on the surgeon's preference, screws or Kirschner wires are used for stabilizing the slipped upper femoral epiphysis. The purpose of this study was to evaluate the ability of a single cannulated screw with a proximal threading to ensure stabilization, growth, and remodeling of the slipped epiphysis., Methods: A retrospective study was performed identifying 23 children treated for unstable SCFE under 50° by means of a single cannulated screw with proximal threading. All patients attended a radiological evaluation immediately after surgery and at physeal closure. The width of the epiphysis cut by the Klein line, the width and length of the femoral neck, the centrocalcar distance (CCD) angle, and the articulotrochanteric distance (ATD) were evaluated., Results: All patients had a stabilized epiphysis at the last follow-up, with no case of recurring slip. Radiological comparison of the affected side between the preoperative and the last follow-up evaluation showed a statistically significant improvement in the neck length and width., Conclusion: Fixation of the epiphysis using proximally threaded screws allows the preservation of femoral neck growth. The cannulated screw with proximal threading seems to be a safe and relevant implant to help to restore a close-to-normal hip at skeletal maturity.

Purpose: Treatment of the sequellae of hip infection with epiphyseal destruction in children has had limited success to date. The aim of this study was to report mid-term results after hip epiphyseal reconstruction using a proximal vascularized fibular graft in three children presenting with massive epiphyseal destruction of the proximal femur following infection., Methods: Three children suffered from hip articular destruction type IVB according to the Choi classification after neonatal septic arthritis. The mean age at reconstruction was 4.3 years (range 3-6 years). The Hunka et al. criteria were used to evaluate the functional results, and the clinical evaluation was based on the Musculo-Skeletal Tumor Society (MSTS) score. Growth and fusion of the graft and hip morphology were evaluated on simple X-rays and by magnetic resonance imaging (MRI). A ratio between cephalic diameter and inter-acetabular gap was defined on the MRI scan as the "acetabular filling index"., Results: No intraoperative complication was reported. With a mean follow-up of 4.8 years (3-6 years), the MSTS score was 22.7/30 (range 20-26), while the average lower limb length discrepancy was 3 cm. Patient 1 required a secondary derotation osteotomy of the femur because of abnormal external rotation and a bad result due to the unexplained occurrence of a painful and stiff hip joint. A secondary distal transfer of the greater trochanter was performed in patient 2, and good results based on Hunka et al.'s criteria were achieved. The X-rays of patients 1 and 2 showed signs of bone growth and a major remodeling process; the MRI filling indices were 83 and 67%, respectively. Patient 3 developed an early slipped capital (fibular) epiphysis 1 month postoperatively, which was treated by percutaneous pinning; this early complication led to a bad result with full resorption of the graft., Conclusions: In contrast to its success in upper limb reconstruction, in this series of three patients with hip articular destruction, articular reconstruction using a vascularized proximal fibula graft was disappointing and led to unsatisfactory results in terms of hip reconstruction. Such a procedure is complex and highly demanding, necessitating extremely intensive post-operative care. An early slipped capital epiphysis can lead to full graft resorption. Consequently, despite important adaptation and remodeling of the graft, the authors do not recommend this procedure at this location.

Purpose: Kingella kingae is increasingly recognized as a pathogen of osteoarticular infections (OAI) below the age of 2 years. It was reported that bones and joints which are rarely infected by other pathogens were frequently invaded by K. kingae. Based on a series of six cases, we present the typical clinical and paraclinical manifestation of K. kingae infections of the sternum and sterno-manubrial joint., Methods: A review of the clinical, laboratory, radiological, microbiological, and molecular data of six consecutive children admitted to a paediatric unit for OAI of the sternum was done., Results: Culture alone allowed for the detection of K. kingae as the responsible pathogen in three cases, molecular methods in the three other cases. Clinical and laboratory findings, as well as imaging methods, proved to be useful in the diagnostic process., Conclusion: Our findings suggest that infections of the lower sternum and the junction between the manubrium and the xyphoid process are typical, if not pathognomonic, for the organism. A respective diagnostic and therapeutic protocol was established.

Optic flow is a typical pattern of visual motion that can be used to control locomotion. While the ability to discriminate translational or rotational optic flows have been extensively studied, how these flows control steering during locomotion is not known. The goal of this study was to compare the steering behaviour of subjects subjected to rotational, translational, or combined (rotational added to translational) optic flows with a focus of expansion (FOE) located to the right, left, or straight ahead. Ten healthy young subjects were instructed to walk straight in a virtual room viewed through a helmet mounted display while the location of the FOE was randomly offset. Horizontal trajectory of the body's centre of mass (CoM), as well as rotations of the head, trunk and foot were recorded in coordinates of both the physical and virtual worlds. Results show that subjects experienced a mediolateral shift in CoM opposite to the FOE location, with larger corrections being observed at more eccentric FOE locations. Head and body segment reorientations were only observed for optic flows containing a rotational component. CoM trajectory corrections in the physical world were also of small magnitude, leading to deviation errors in the virtual world. Altogether, these results suggest a profound influence of vision, especially due to the pattern of visual motion, on steering behaviours during locomotion.

Open reduction is commonly recommended in Jeffery type II fractures. Attempts to reduce these fractures percutaneously were reported as unsafe and unreliable. We revisited this technique and used a specific percutaneous reduction that turned out to be successful in two cases. Instead of lifting the radial head as described in leverage maneuver, we use a pushing-back procedure to reduce the fracture. The maneuver aims at suppressing the capitellum interposition between the head fragment and the metaphysis by reproducing the reversed trajectory of trauma. This reduction is made possible because of the posterior periosteal attachment of the radial head. A few weeks after the procedure, the two patients remained painless, recovered a complete range of motion in prono-supination and returned to sports. In these two cases, the procedure used led to a prompt recovery and provided a much better outcome than described with the classic open approach.

The 5HTTLPR polymorphism in the promoter region of the human serotonin transporter (SLC6A4) gene is known to be associated with various stress-related psychological and psychiatric phenomena. We observed that a similar diallelic polymorphism in the orthologous gene of rhesus macaques (Macaca mulatta) was related to the reproductive life history of 580 males residing in the free-ranging colony of Cayo Santiago, Puerto Rico, between 1985 and 1998. At first glance, the polymorphism appeared to be selectively neutral because no difference in total reproductive output was noted between males of different 5HTTLPR genotypes. However, whereas heterozygotes were significantly more reproductive than homozygotes at intermediate age (10-13 yr), the opposite held true before and after this period (n = 682 offspring; randomization P = 0.014). This association, which explains approximately 7% of the observed variation in sire age, most likely reflects different natal dispersal patterns and represents the first reported instance of a genetic influence on reproductive timing in mammals.

The authors report four cases of Jeffery type 2 lesions in children. Despite the probable mechanism of such lesions, none of the cases reported here displayed a dislocation of the elbow. In the first observation the diagnosis was suspected only 15 days after injury. Two other cases were initially treated by closed external manipulations, one with percutaneous Kirschner wire leverage and the other with closed intramedullary pinning, but both cases displayed a 180 degree reversal of the radial head, suspected only secondarily. The first exhaustive review of the literature on the subject, shows that this complication is classical in Jeffery type 2 fractures. In fact none of the 22 cases described in the literature had successfully been reduced by external manipulations. Interposition of the lateral condyle, pathognomonic of the Jeffery type 2 fracture, hampers reduction. Attempts at reduction by external manipulation in nine cases therefore led to two non-reduction and seven reversal of the radial head. Knowledge of this particular fracture will allow an early diagnosis and an immediate surgical treatment.

Gene conversion and balancing selection have been invoked to explain the ubiquitous diversity of the antigen-presenting proteins encoded in the vertebrate major histocompatibility complex (MHC). In the present study, direct evidence for over-dominant selection promoting MHC diversity in primates is provided by the observation that, in a large free-ranging population of rhesus macaques, males heterozygous at MHC class II locus Mamu-DQB1 sired significantly more offspring than homozygotes (the male-specific selection coefficient s equals 0.34). This heterozygote advantage appeared to be independent of the actual male Mamu-DQB1 genotype. No similar effect emerged for a captive group of monkeys of similar genetic background but under veterinary care.

A VNTR polymorphism previously characterized in the promoter region of the human serotonin transporter (SLC6A4) gene was also found to segregate two major alleles (l and s) among the free-ranging rhesus macaques of Cayo Santiago, Puerto Rico. When VNTR genotypes were related to age at male natal dispersal on Cayo Santiago, ss homozygotes (43 of 532 males tested) were found to have left their natal groups significantly earlier (age 57.1 +/- 2.6 months) than carriers of the l allele (ll age, 71.5 +/- 2.1 months; ls age, 63.5 +/- 1.5 months; P = 0.0001). Since migration implies reproductive costs and benefits that change with age at dispersal, migration at an intermediate age might have conferred a heterozygote advantage serving to maintain the VNTR polymorphism via overdominant selection.

Purpose of the Study: Excentration of the hip is one of the main orthopedic complications of ante and perinatal cerebral palsy. Excentration can progress to dislocation even if tenotomy is performed. What is the prevalence and morbidity of hip excentration?, Methods: We reviewed the pertinent literature on the prevalence and morbidity of hip excentration in patients with cerebral palsy based on the Medline and Reedoc databases., Results: Data presented in the literature vary greatly. Populations are representative of the referral network of the teams reporting the study rather than the cerebral palsy population in general. Signs reported were pain, difficult nursing procedures, difficult sitting position, pressure sores and fractures, but only one sign can be taken fully into account: 50 p. cent of the dislocated hip joints were painful., Discussion: No one study gives a precise assessment of the prevalence of hip excentration and displacement and its consequences in patients with cerebral palsy. In a population of quadriplegic patients who do not walk, the question is whether complementary tenotomy should be performed, knowking the difficult operative and postoperative situation of such procedures. In this population, walking is an exceptional goal of bone surgery, pain relief and patient comfort are more common goals. Data in this literature (50 p. 100 of the dislocated hips are painful) suggest a prudent approach. However, there is no known marker which can be used to distinguish hips which will become painful from those which will remain pain free. In addition, irreversible cartilage degeneration can cause pain contraindicating reconstructive surgery.

Recently, we developed a method to quantitatively study tumour cell heterogeneity in terms of both nuclear size and estrogen receptor (ER) content by image cytometry. The method, previously used to analyse the proliferation of the breast cancer cell line MCF-7, was applied here to analyse the growth of this cell line under estradiol (E2), hydroxytamoxifen (OH-TAM), and both E2 and OH-TAM treatments. The method extracts characteristic parameters of single nuclei and features that measure the global and local organisation of the cells in their growing phase. Modifications of the heterogeneity of the cell line are emphasised through phenotypic changes and modifications of the spatial organisation of the cells. The hormone (E2) generates a very fast growth of cells with small nuclei that became ER negative in the long term. The antihormone (OH-TAM) produces a gradual selection of ER negative or poorly positive cells with large nuclei. These modifications are reversed when E2 and OH-TAM are simultaneously used. Moreover, estradiol induces a permissive context of proliferation, whereas hydroxytamoxifen acts only on some subpopulations. The combination of cell count, cytomorphology, and cell organisation revealed the magnitude of the potential of structuration of hormones or antihormones on in vitro growing cells.

Daclizumab and basiliximab, engineered human IgG monoclonal antibodies to the interleukin-2 (IL-2) receptor alpha-subunit, were approved to prevent acute rejection after renal transplantation. Daclizumab was studied in adult and pediatric renal allograft recipients, liver allograft recipients, and calcineurin-sparing protocols in renal transplant recipients. Basiliximab was studied in renal allograft recipients and subgroups of recipients of living-related and cadaveric transplants, and in patients with diabetes mellitus. Both agents reduced acute rejection and were associated with few adverse effects. However, information regarding their long-term effects on infection, malignancy, chronic rejection, and patient survival must be available before a final decision is made regarding their proper administration. We propose that a likely role the drugs will play in the field of solid organ transplantation is in new protocols that allow sparing of other more toxic immunosuppressive agents.

Rationale: Cortical dysplasia (CD) designates a diverse group of malformations resulting from one or more abnormalities in the development of the cerebral cortex. The clinical manifestations of CD are varied, probably depending on the type, location and extent of CD. Epilepsy is a potential late manifestation of any cortical malformation. To our knowledge, however, no study has focused specifically on late onset of epilepsy in patients with localized CD., Material and Methods: We studied patients with localized CD confirmed by MRI. Patients were divided into 2 groups according to age at onset of epilepsy. Group 1 included patients in whom the first seizure occurred up to the age of 12 (early-onset group) and group 2 included patients in whom the first seizure occurred after the age of 12 (late-onset group). The two groups were compared with regard to the type of CD, clinical findings and EEG findings., Results: Thirty-three patients with various forms of CD were studied. Onset of epilepsy occurred in adolescence or adulthood in 9 cases (37%). In 6 of these (17% overall), the first seizure occurred in adulthood. CD were posterior bilateral pachygyria (1), unilateral polymicrogyria (3), focal dysplasia with subcortical gray matter heterotopia (1), perisylvian bilateral polymicrogyria (1), bioccipital polymicrogyria (1) and bilateral nodular periventricular gray matter heterotopia (2). The incidence of neurological signs was lower in the late-onset group. Mental retardation was moderate or absent, thus allowing a fairly normal lifestyle. All patients presented partial seizures with a lower incidence of drug resistance (p < 0.01). EEG demonstrated preservation of background activity and absence of diffuse or multifocal abnormalities., Conclusion: Onset of epilepsy with various forms of CD may be delayed until adolescence or adulthood. Prognosis of epilepsy is usually more favorable in these cases.

A systematic search was performed for DNA sequence variation in genes regulating neurotransmitter metabolism in rhesus macaque (Macaca mulatta). These genes included dopamine and serotonin receptors and transporters, and tyrosine hydroxylase. A total of 13 single nucleotide polymorphisms in five different genes were identified, namely: DRD1 (-244T->G), q = 0.45; DRD1 (-179C->T), q = 0.19; DRD1 (-127G->A), q = 0.25; DRD1(-11T->G), q = 0.08; DRD1(-81C->T), q = 0.19; DRD3 (248G->A), q= 0.08; DRD3(341G->C), q = 0.11; DRD3(377A->G), q = 0.19; DRD3 (403C->T; A59V), q= 0.11; DRD4(2608G->A), q= 0.48; HTR1D(-506G->T), q = 0.47; HTR1D(-173C->T), q = 0.47; and HTT(340G->A), q = 0.39. The nucleotide positions listed correspond to the human homologs.

Considerable controversy exists on the nature of the relationship between male dominance rank and reproductive activity. The nature of this relationship has important implications for understanding the manner in which males compete for access to limited resources. Behavioral data on mating patterns were collected over a four-year period from one social group of rhesus macaques on Cayo Santiago. Correlations between dominance rank and reproductive activity were not stable over a four-year period, but changed yearly. Positive, significant correlations were present in the first two years of the study while non-significant correlations were found in the second two years. The variation found in the correlations between rank and mating activity could be accounted for by changes in the mating frequencies of different classes of males. The long-term resident males had declines in ejaculation frequencies over the duration of the study. Males who immigrated into the group had yearly increases in reproductive behavior over three consecutive years. Maturing natal males also increased their levels of reproductive activity from year-to-year. Combining these mating patterns over time resulted in shifting the proportions of matings away from the long-term residents and in favor of the new males. High-ranking males had an advantage in reproductive activity over the first two years of the study, as measured by both the total number of ejaculations and the mean number of ejaculation per male. New males, comprised of recent immigrants and maturing natal males, had a greater level of reproductive activity over the last two years. These results suggest that the effect of rank on reproductive activity is variable and that males utilize alternative tactics to attain access to limited resources. Simple one-factor models explaining the relationship between rank and reproductive activity must be replaced with models explaining how alternate strategies affect male competition and reproductive success in primates.

A series including 13 unilateral selective tibial neurotomies for spastic foot in hemiplegic children is reported. The results were considered excellent in three cases. Two cases needed additional corrective casts postoperatively. Eight cases had poor result with recurrence of the same deformity. The authors conclude that the effect of tibial neurotomy for spastic foot in hemiplegic children is transient in 61% of cases with a recurrence of the same deformity. Four of the patients with failed treatment underwent orthopedic surgery with muscle biopsies. Histologic data clearly demonstrate that previously denervated muscle fibers were reinnervated carrying into extensive motor units. This finding can explain the recurrence of the foot spasticity and deformity in neurotomized children.

Myotonic dystrophy is a rare disease (1/8000), that is rarely associated with pregnancy, due to the fact that parents carrying the disease often encounter hypogonadism. Myotonic dystrophy is a neuro-endocrinian 'heredo-degenerative' dystrophy, with dominant autosomic transmission. Its association with pregnancy can lead to several problems. The myotony is often aggravated which leads to obstetrical complications turning into fetal loss, premature term delivery, hydrops, in-utero death, difficulties in expulsion, haemorrhage during delivery and/or anaesthetic accidents. The following signs during the pregnancy can diagnose fetal damage: presence of a hydrops, rare active fetal movements, and low fetal cardiac rhythm. They signify serious fetal damage leading to a diagnosis of myotonic dystrophy. Personal and family antecedents as well as an important hypotony and respiratory distress discovered in the new born are equally evocative elements. In congenital cases (6-30% of the time) the prognosis of the child is pessimistic. For all of the above elements, transmission is of maternal origin. The diagnosis of the congenital form is difficult because the disease is often unknown by the mother. The appearance of molecular tools permits a diagnosis to be formed much more rapidly in a new-born suspected to carry the illness of neonatal Steinert. Two observations illustrate this pathology. The occurrence of congenital myotonic dystrophy in a new-born allows us to diagnose the disease within the mother.

The authors report a pregnancy in a 34 year old patient who previously experienced a myocardial infarction. The pregnancy ended at 39 weeks in the birth of a healthy girl weighting 3040 g, by cesarean section under epidural anesthesia. A review of the literature revealed 33 similar cases, 16 of which were adequately documented.

The prenatal diagnosis of trisomy for the distal half of the short arm of n(o) 9 chromosome (partial trisomy 9p) has been realized from a morphologic ultrasound. A genetic investigation has permitted to establish that this trisomy was due to a bad segregation of a stable translocation present in the patient's mother. To our knowledge, the ultrasound prenatal diagnosis of partial trisomy 9p has never been reported in the literature. The prognosis of this syndrome remains very pejorative and the termination of pregnancy is the most often proposed solution.

Aim: To define therapeutic ways to manage obstetrics at an optimal level for a patient carrying a mechanical prosthetic heart valve., Method: From a review of literature and documented cases, we propose an obstetrical and cardiological management scheme for pregnant patients carrying a mechanical prosthetic heart valve. We deal successively with the preventive (anticoagulation) and curative treatment (surgery and thrombolytic therapy) of valvular thrombosis, in fact, a severe -but unfortunately frequent- complication of these pregnancies., Results: Pregnancy concerning patients with mechanical prosthetic heart valves is a high-risk pregnancy. In fact, the risk of thrombo-embolic accidents even with a closely followed anticoagulant treatment seems to come from the existence of the prothese, the state of physiological hypercoagulation and peri-partum hemorrhages. Naturally, multidisciplinary follow-up is indispensable. The prescription of anticoagulant treatments must respect the main principals and the normal counter-indications in order to minimise maternal and fetal complications., Conclusion: Pregnancy amongst patients carrying mechanical prosthetic heart valves should be considered rare and highly exceptional cases, from a cardio-vascular surgeon's point of view. For obstetricians, it is sometimes difficult to forbid pregnancy to a nullipara. The discussion whether to authorize a pregnancy will be treated case-by-case, holding into account the socio-cultural environment of the patient, as the principles of an anticoagulant treatment and the underlying risks must be well understood.

Male rhesus monkeys typically disperse from their groups of birth when they are between 3 and 5 years of age. Some males, however, delay dispersal from their natal groups until after they are 5 years old. The current study evaluated central monoaminergic neurotransmitter activity as a potential correlate of such "delayed" dispersal among 54 randomly selected adolescent and adult male rhesus monkeys (Macaca mulatta) captured on Cayo Santiago during an annual trapping season. Specifically, cerebrospinal fluid (CSF) concentrations of 5-hydroxyindoleacetic acid (5-HIAA, a serotonin metabolite), 3-methoxy-4-hydroxyphenylglycol (MHPG, a norepinephrine metabolite), and homovanillic acid (HVA, a dopamine metabolite) were compared in monkeys 60 months of age or more that had either dispersed (n = 33) or were still in their natal groups (n = 5). The monkeys still in their natal groups had higher CSF concentrations of both 5-HIAA and HVA (but not MHPG) than did the animals that had emigrated (Ps < 0.05). Subsequent analysis indicated that only 5-HIAA independently differentiated dispersing monkeys from delayed dispensers. Of monkeys less than 60 months of age (n = 16), only two had dispersed from their natal groups; in this age class, there were no significant differences between dispersing and natal individuals in any CSF monoaminergic metabolite (all Ps = NS). Finally, there was no difference in the CSF 5-HIAA concentrations of the five delayed dispersers and those of younger animals (P = NS), suggesting a failure to experience the frequently reported adolescent decline in serotonergic activity. In contrast, the CSF 5-HIAA concentrations of the dispersing animals were lower than those of the younger animals (P < 0.05), consistent with either an agerelated decline or an effect of dispersal per se. © 1995 Wiley-Liss, Inc., (Copyright © 1995 Wiley‐Liss, Inc., A Wiley Company.)

Multilocus DNA fingerprinting with oligonucleotide probes (GTG)5, (GATA)4, and (CA)8 was applied in order to determine paternity in one birth cohort (15 infants) of social group (S) from the free-ranging colony of rhesus macaques (Macaca mulatta) on Cayo Santiago. While sires could be identified in 11 cases, all males tested (N = 19) could be excluded from paternity for the remaining four infants. Data revealed marked discrepancies between actual paternity and paternity as inferred from the observation of copulation behavior. Thus, a dominant social rank does not appear to be strongly associated with reproductive success. Furthermore, alternative reproductive strategies were found to yield comparable net benefits in reproduction. A second group of animals (M) was translocated from Cayo Santiago to the Sabana Seca Field Station in 1984. They have continuously resided together in a large outdoor enclosure since then. Here paternity assessment was seriously impeded by a reduced number of discriminating bands, i.e. offspring bands which were unequivocally derived from the sires. This was initially held to be indicative of a smaller degree of heterozygosity in Group M, and was attributed to inbreeding due to a lack of male immigration or extra-group fertilizations. However, a comparison of the DNA fingerprint patterns obtained in Group S and Group M lends only partial support to this idea.

The present report studies a large kindred (WR) with generalized thyroid hormone resistance that has varying degrees of neuropsychological dysfunction, hyperactivity, poor attention span, decreased IQ and/or abnormalities in spatial perception. In this kindred, there has been found tight linkage of the syndrome with the c-erb A beta gene. The present study was performed to identify the presence of a possible gene mutation as a cause for this syndrome. DNA from peripheral leukocytes was isolated from 15 unaffected and 8 affected individuals from the kindred. Primers encompassing exons 9 (nucleotides 1171-1429) and 10 (nucleotides 1430-1698) were synthesized and used in PCR reactions to amplify these exons. Direct sequencing revealed a consistent substitution in each affected subject, but in none of the unaffected individuals, of a C to T change in one allele from nucleotide 1243, resulting in an arg to cys change in codon 315. The mutant and wild-type human beta 1 receptors were prepared and their translated proteins were analyzed for T3 binding. The WR T3 receptor from affected patients had reduced T3 binding affinity, with values approximately 2.5 x 10(10) M-1 compared to about 5 x 10(10) M-1 in normals. In summary, we have: i) identified a consistent and reproducible mutation of a C to T change in nucleotide 1243 in each of the affected but in none of the unaffected individuals of a large well characterized kindred with generalized thyroid hormone resistance; and ii) noted that the WR allele causes an approximate 50% decrease in the T3 binding affinity.(ABSTRACT TRUNCATED AT 250 WORDS)

To prevent and treat the ischemic complications due to the vasospasm, this report suggest the management of aneurysmal subarachnoid haemorrhage by the association of antifibrinolytics (tranexamic acid) to lower the risk of rebleeding, calcium channel blockers (nimodipine), and the keeping of an effective total blood volume (thanks to volume expansion and dopamine). From 88 patients aged from 4 to 73, two thirds were admitted at latest 48 h after the aneurysmal rupture Emergency surgery was carried out in the case of a compressive hematoma, early surgery (between the first and the third day) on the grades I, II and III of Hunt and Hess without any signs of angiographic vasospasms (40% of this series), delayed surgery for the others (27.5%), 10% didn't undergo any surgery. Only three patients (3.4%) presented rebleeding leading to death. The features of the whole series are: 51% recovered without any after effects, 22% had mild neurological deficiency, 10% had severe neurological deficiency and 17% died after their release from hospital. This protocol allowed a decrease in the ischemic complications due to the vasospasm and in the rate of rebleeding during the waiting interval when an angiographic or a clinical vasospasm allowed no surgery.

With an anatomical case and a clinical case, the authors describe the pygomelus, a very rare monstruosity. Legend and reality are often mixed in the description of literature. It is difficult to classify this monstruosity either in the simple monster or in the twin monsters.

The authors report two rare cases of pygomelus monster. The appearance and operative procedures undertaken are described. Pygomelus and caudal duplication are often mixed in literature. This monstruosity is classified in the twin monsters, but minor forms any be discussed with sacro-coccygeal teratomas and reduplication of lower limbs.

After Harrington's procedure, the authors analyse anatomical modifications observed on the 3 last grafted vertebrae and on the underlying healthy lumbar segment. At the level of the grafted vertebrae it was observed a quite constant discal piching and a change in morphological aspect of the vertebra which become higher than large. The ratio between width and length physiologically at 1,20 was at 0,96. At the level of mobile underlying segment to the graft, lordosis remains at physiological value, although distributed on a shorter lumbar segment and that without change in discal angle. This fact was induced by an increase of the lordosis percentage incumbent to the vertebral body. This percentage physiologically at 10 passed 30 after Harrington's procedure because of an increased wedge-shaped of the 4th and 5th lumbar vertebra. This phenomenon was as much marked as the graft was precociously performed and as they descended lower. This might explain the good long term tolerance for the increased work of the free underlying rachis to a Harrington's procedure.

Following a brief summary of results of surgery of major spondylolisthesis of children using Harrington's technique, the outcome in 15 cases operated upon between 1967 and 1983 is discussed. Satisfactory short-term results (reduction perfect in 40% and fair in 60%) were not maintained and a relapse of sliding occurred in 50% at a later stage. In order to improve long-term stability. Harrington's classical procedure was combined with Luque's technique with binding of posterior arches of L3 and L4 to metallic spars in major L5-S1 spondylolisthesis. Two adolescents with very disabling L4-L5 spondylolisthesis were operated upon by Luque's original method combining partial resection of supra- and sub-jacent articular surfaces and isthmic reconstruction by grafts with excellent immediate results. This method is also discussed.

The authors report 9 cases of major radiological abnormality of the navicular bone, of which only 5 were cases of Köhler's disease. The diagnosis of this disease requires a combination of clinical and radiological signs, the isolated presence of radiological signs only represents abnormalities of ossification which are very common in this bone. The treatment is generally accepted to be plaster immobilisation, but its duration is a topic of debate, varying between 4 and 8 weeks, according to different authors.

6 cases of congenital mesoblastic nephroma removed surgically between 5 days and 2 months 1/2 of age are reported. The authors point out the peculiar histological aspect of this tumor : myomatous or fibromyomatous proliferation which surround in some places normal or dysplastic glomerular or tubular structures and penetrates by digitations in parenchymatous elements without destroying them. At the periphery of the tumor there are some lymphatic capsular ectasia or lymphoid infiltration or cartilaginous islets. In case of a renal tumor of the newborn or infant they emphasize the necessity to search for a congenital mesoblastic nephroma in order to avoid all types of radio therapic or chimiotherapic treatment without histological diagnosis. These forms of therapy are responsible for severe complications heavily impairing a prognosis which in most cases is an excellent one when nephrectomy alone is carried out. In some exceptional cases it seems useful to add other forms of therapy when the tumor proves itself to be of a peculiar aggressivity macro or microscopically.

The authors report a case of Corynebacterium acnes osteitis in an 11 year old girl, involving the upper of the right tibia. The lesion resembled a malignant tumour radiologically and tuberculosis histologically. Scintigraphy revealed involvement of the seventh right rib. 3 months treatment with Pristinamycin resulted in cure.

Superior radioulnar synostosis is a rare abnormality which frequently gives rise to functional disability. Its pattern of inheritance is uncertain. We have studied 29 children, 18 boys and 11 girls, who had a total of 43 such synostoses. Twenty children had significant functional disability. Fourteen required operation, 10 undergoing a Judet's osteotomy and 4 osteotomy of the lower end of the radius. The dominant hand was placed in the position of function, and the other in 30-40 degrees of supination. The osteotomies were secured by pins and supported in a plaster splint. Use of the forearm and hand was improved in all cases. Operation is best carried out between the ages of 4 and 10, and a useful functional improvement can be expected.