CHARGE syndrome: developmental and behavioral data

Kabuki syndrome (KS) is associated with multiple organ system involvement. Characteristic features include long palpebral fissures with everted lower lids, prominent ears, skeletal abnormalities, mental retardation, and short stature. An increased incidence of infection has been reported in KS, and a few patients have been noted to have immune defects. However, the frequency and severity of the immune deficiency has not been clearly defined. Immunologic evaluation of 19 consecutive individuals with KS was performed at The Children's Hospital of Philadelphia. Decreased IgA levels were noted in 15/19 individuals (79%), 2 of whom had undetectable levels. Eight patients (42%) also had low total IgG levels. Specific IgG subclass abnormalities were found in 6 of 13 patients evaluated. IgM levels were less frequently decreased. One patient failed to generate anti-tetanus antibodies despite immunization. This study suggests that hypogammaglobulinemia is a frequent finding in children with KS. The pattern of antibody abnormalities seen in children with KS resembles common variable immune deficiency (CVID). Due to this increased susceptibility to infection, children with KS should have immunologic evaluations at the time of diagnosis in order to reduce preventable morbidity and mortality.     

The role of PLC beta 1 in the control of oocyte meiosis during folliculogenesis

The dynamics of the subcellular distribution of PLCbeta1 was investigated during meiosis competence acquisition and meiosis resumption in relation to oocyte diameter and to nonsurrounded-nucleolus or surrounded-nucleolus chromatin configurations. Oocytes collected after both in vivo and in vitro folliculogenesis were studied. In both conditions, at the beginning of the process, most oocytes exhibited a nuclear PLCbeta 1 associated with a nonsurrounded-nucleolus chromatin configuration. Then at the final stage of the process, the factors shifted mainly toward a cytoplasmic PLCbeta1 and a surrounded-nucleolus chromatin configuration, typical of a preovulatory fertilizable oocyte. Additionally, only germinal vesicle oocytes with a diameter > 75 microm, and exhibiting cytoplasmic PLC beta1 distribution and surrounded-nucleolus chromatin configuration, resumed meiosis. Our findings demonstrate a strong correlation between oocyte diameter, chromatin configuration, and PLCbeta1 localization. Thus, PLCbeta1 localization appears to be a key factor determining the progressive acquisition of meiotic competence and final resumption of meiosis.     

Late spinal dislocation after treatment of spinal arteriovenous malformation. A case of Charcot spinal arthropathy

Neuropathic arthropathy of the spine is a destructive condition of the spine which is secondary to a loss of the protective proprioceptive reflexes. In the majority of cases, it occurs in patients who have suffered from traumatic medullary lesions and is responsible for destruction of the vertebral bodies and considerable spinal deformity. We report a case of neurogenic lumbar arthropathy in a patient with a spinal arteriovenous malformation. This vascular lesion caused considerable disturbances of proprioception. The course was favorable with regard to the deformity after correction and fusion by posterior approach.     

Traumatic hip dislocation in childhood

Traumatic dislocation of the hip in childhood is uncommon and can be a consequence of minor trauma. The authors report a series of 35 dislocations in skeletally immature patients. Most were isolated posterior dislocations without acetabular lesions. In 75% of cases, reduction of the dislocation was easy. Nine children required surgery to remove interposed joint capsule and/or osteochondral fragments to achieve anatomic reduction. Outcomes were generally good, except in one patient in whom a displaced fracture of the femoral physis was followed by total head avascular necrosis. One case of partial necrosis had a satisfactory outcome. Epiphyseal necrosis, though uncommon, appeared to be inconsistent to prevent and hard to predict. Bone scan seems to be more effective than MRI for the detection of necrosis.     

Association of Ilizarov’s technique and intramedullary rodding in the treatment of congenital pseudarthrosis of the tibia

Purpose  Many surgical techniques have been published on how to treat congenital pseudoarthrosis of the tibia (CPT). We combined Ilizarov’s fixator with intramedullary nailing of the tibia and developed a procedure which combines the advantages of both methods: Ilizarov’s high fusion rate with alignment control and the protection against refracture provided by the intramedullary nail. The results of this approach are presented and discussed. Material and methods  Seven boys and three girls aged 3–14 years (mean age 8 years 2 months) were treated using our combined technique. In six cases, the CPT was associated with neurofibromatosis. Two strategies were adopted: in six cases, a compression was applied on the bone defect, and in four cases, segmental bone transportation was performed before the compression procedure. The final follow-up (1.2–6.6 years) included a clinical and radiological examination. Results  Tibial union was achieved in nine cases without bone grafting. In one case, tibial union still remains uncertain, despite intertibiofibular bone grafting and additional compression procedures. Thirteen overall complications were noted, including three valgus deformity of the ankle. Bone transportation failed to achieve complete limb lengthening in three cases. One deep infection occurred 4 years after removal of the external fixator. The treatment for this included nail removal and antibiotic therapy for 3 months. Despite a permanent protection of orthosis, a refracture occurred 2 years after nail removal, reverting to the initial level of pseudarthrosis. Another surgical attempt using the same method was then performed with a satisfactory result. Conclusions  The association of Ilizarov’s technique and intramedullary nailing achieved and maintained tibial union in nine of ten patients at final follow-up. It also allowed correction of axial deformities and prevented refracture. Despite the short duration of the follow-up and a high rate of complications in our series, this method can be useful in many cases of CPT in which healing has failed to occur despite many previous surgeries.     

The sagittal balance of the spine in children and adolescents with osteogenesis imperfecta

In severe forms of osteogenesis imperfecta, multiple compression fractures of the spine, as well as vertebral height shortening could be responsible for an increased thoracic kyphosis or a diminished lumbar lordosis. Theses progressive changes in sagittal shapes of the trunk could be responsible for a global sagittal trunk imbalance. We compare the parameters of sagittal spinopelvic balance in young patients with OI to those parameters in a control group of healthy volunteers. Eighteen patients with osteogenesis imperfecta were compared to a cohort of 300 healthy volunteers. A standing lateral radiograph of the spine was obtained in a standardized fashion. The sacral slope, pelvic tilt, pelvic incidence, lumbar lordosis, thoracic kyphosis, T1 and T9 sagittal offset were measured using a computer-assisted method. The variations and reciprocal correlations of all parameters in both groups according to each other were studied. Comparison of angular parameters between OI patients and control group showed an increased T1T12 kyphosis in OI patients. T1 and T9 sagittal offset was positive in OI patients and negative in control group. This statistically significant difference among sagittal offsets in both groups indicated that OI patients had a global sagittal balance of the trunk displaced anteriorly when compared to the normal population. Reciprocal correlations between angular parameters in OI patients showed a strong correlation between lumbar lordosis (L1L5 and L1S1) and sacral slope. The T9 sagittal offset was also strongly correlated with pelvic tilt. Pelvic incidence was correlated with L1S1 lordosis, T1 sagittal offset and pelvic tilt. In OI patients, the T1T12 thoracic kyphosis was statistically higher than in control group and was not correlated with other shape (LL) or pelvic (SS, PT or PI) parameters. Because isolated T1T12 kyphosis increase without T4T12 significant modification, we suggest that vertebral deformations worsen in OI patients at the upper part of thoracic spine. Further studies are needed to precise the exact location of most frequent vertebral deformities.     

Effects of the cold pressor test on short-term fluctuations of finger arterial blood pressure and heart rate in normal subjects

The effect of the cold pressor test on autonomic cardiovascular control was studied non-invasively by means of spectrum analysis of periodic heart rate and blood pressure fluctuations in ten normal subjects. Fast Fourier Transform algorithm based on a 256-point time series (sampling rate 2 Hz, i.e. 2-min and 8-s) was used to estimate the amplitude spectra of heart rate and blood pressure rhythmicity at the low frequency (70–140 mHz) and respiration related frequency (230–270 mHz) band. Respiration rate was controlled at 250 mHz. Auto- and cross-spectral techniques were used to determine the complex relationship between systolic blood pressure and heart rate fluctuations in the frequency domain. The spectral pattern of systolic and diastolic blood pressure showed a marked increment of the absolute and relative (100 multiplied with absolute value/total area under the curve of the amplitude spectrum from 15–500 mHz) low frequency component: control vs. cold pressor test—systolic blood pressure—absolute values (in [mmHg/Hz^1/2]): 634.4 ± 48.9 vs. 827.4 ± 69.9* relative values (in [%]): 26 ± 2 vs. 32 ± 2*; diastolic blood pressure —absolute values: 433.2 ± 42.3 vs. 537.2 ± 45.8* relative values: 35 ± 3 vs. 40 ± 2*, (average ± SEM, *P < 0.05). The cold pressor test induced no change in average heart rate; the absolute low frequency component in heart rate spectra increased clearly during the test: low frequency component (in [bpm/Hz^1/2]): 586.9 ± 89.9 vs. 712.0 ± 91.4*, while the relative low frequency component did not change: 29 ± 3 vs. 30 ± 3. There was no alteration in the respiration related frequency component in all time series and in the transfer gain and phase functions during cold pressor test. We conclude that the cold pressor test increases low frequency systolic blood pressure fluctuations which reflects an increase in sympathetic vasomotor control. Furthermore the cold pressor test does not induce change in the transfer gain and phase characteristics of modulation of heart rate by systolic blood pressure.     

Evaluation of an education program of patients undergoing oral anticoagulation treatment

OBJECTIVE: To evaluate the therapeutic impact of an education program on patients undergoing oral anticoagulation treatment, within the hospital of Annecy (France). MATERIAL AND METHODS: Groups of 10 patients were invited to participate to two meetings. The education was carried out by two nurses. Thanks to this prospective study, we compare the population before and after education in terms of treatment knowledge and stability. RESULTS: Within 9 months 88 patients have been included, amongst which 55 have attended the two meetings. The average of correct answers to the knowledge evaluation questionnaire distributed before and after 6 months of education were, respectively, 6.63/12, 10.09/12 (P < 0.0001). Through INR controls within the 6 months preceding (424 controls) and the 6 months following the education (619 controls), we observe: an increase of the total INR average in therapeutic zone, from 45% to 61% (P < 0.0001); a decrease of the difference average per patient between the INR value observed and the one targeted: 0.54 before education, 0.40 after education (P = 0.0016); at last, the average phasing per patient under the therapeutic zone increases after education, from 49% to 65% (P < 0.001). CONCLUSION: The education improves objectively the knowledge of patient undergoing AVK. If the size of patient sample is not large enough to prove any consequence on hemorrhagic or thrombotic complications, the education program still improves significantly the treatment stability.     

Impairments in an early stage of the decision-making process in patients with ventromedial prefrontal damage: preliminary results

Lesions of the ventromedial prefrontal cortex can result in a deficient decision-making behavior. So far, most experimental results in the neuropsychological decision-making research have been obtained with gambling tasks. Due to their high complexity, it is difficult to evaluate the underlying processes of the decision-making deficits. The aim of this study was to assess if patients with ventromedial prefrontal damage compared to patients with dorsolateral prefrontal damage and controls show a deficit in an early stage of the decision-making process. Nine patients with ventromedial prefrontal damage, three with dorsolateral prefrontal damage, and eleven healthy controls were tested with a newly developed decision task in which they had to search actively for the information they needed for their decisions. Our results show that patients with ventromedial prefrontal damage compared to the brain-lesioned dorsolateral prefrontal control group and healthy controls searched less for information with regard to risk defusing operators or consequences of their decisions indicating impairment already in the early stage of the decision-making process.