A very rare adult case with neuroblastoma

We report a 53-year-old male patient who underwent paravertebral mass excision at the D10-11-12 vertebral levels in 2007. The histopathological evaluation of the mass showed the presence of neuroblastoma. The patient was diagnosed with stage IV neuroblastoma. He received 6 courses of chemotherapy and exhibited a stable course until March 2010. When he was reevaluated in March 2010, progression in the metastatic lesion as well as local recurrence was detected. The patient, who was restarted on chemotherapy, developed progressive weakness and loss of sensation of the lower extremity. The neurosurgical investigation revealed an irreversible loss in motor functions. The patient is currently on symptomatic treatment.     

Lidocaine for prevention of propofol injection-induced pain: A prospective, randomized, double-blind, controlled study of the effect of duration of venous occlusion with a tourniquet in adults

Background: Many patients experience pain on injection of propofol. The use of lidocaine to prevent propofol injection pain is common. The analgesic effect of pre-injected lidocaine has been found to increase when a tourniquet is used.Objective: The aim of this study was to compare the effectiveness of various venous occlusion times with lidocaine analgesia to prevent pain during propofol injection.Methods: In this prospective, randomized, double-blind, controlled study, women aged 18 to 45 years, classifed as American Society of Anesthesiologists physical sta- tus I or II, who were scheduled to undergo elective surgery under general anesthesia induced with propofol, were randomly assigned to 1 of 5 groups: group 1, 2% lidocaine 20 mg in saline in a total volume of 10 mL and no venous occlusion; group 2, 2% lidocaine 20 mg in saline in a total volume of 10 mL plus venous occlusion for 15 seconds; group 3, 2% lidocaine plus venous occlusion for 30 seconds; group 4, 2% lidocaine plus venous occlusion for 60 seconds; and group 5, saline 10 mL and no venous occlusion. When the first 25% of the calculated propofol dose was administered, patients were asked about propofol-induced pain using a verbal pain scale (0 = no pain; 1 = mild pain; 2 = moderate pain; and 3 = severe pain). All patients and the anesthesiologist who evaluated pain severity were blinded to the study preparation being used.Results: The study comprised 100 women who were randomly divided into 5 groups of 20 patients each. Significantly more patients in group 5 (18 [90%] patients; P < 0.05) reported pain compared with the other treatment groups. In groups 2, 3, and 4, in which venous occlusion was applied, pain was reported during propofol injection in 6 (30%), 7 (35%), and 2 (10%) patients, respectively. The incidence of reported pain was significantly greater in group 1 (lidocaine without venous occlusion) than in group 4 (P < 0.05); however, the incidence of pain was similar in group 1 compared with groups 2 and 3.Conclusions: The present study found that pretreatment with lidocaine 20 mg with or without venous occlusion significantly reduced the incidence and the severity of pain during the injection of propofol when compared with the group with no venous occlusion administered saline. In addition, pretreatment with lidocaine 20 mg plus venous occlusion for 60 seconds significantly reduced the incidence of propofol-induced pain compared with lidocaine without venous occlusion.     

A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus

Autosomal recessive nephrogenic diabetes insipidus (ARNDI) is a rare disease usually seen in patients with consanguineous parents. We report on a case of ARNDI in a patient with non-consanguineous parents who presented with recurrent febrile attacks. The differential diagnosis of ARNDI was made by desmopressin infusion test. A homozygous mutation, R85X, was detected in the aquaporin 2 gene (AQP2) of our patient, which has been described only once previously. This case is presented to stress that even male patients with non-consanguineous parents could have ARNDI with a AQP2 gene defect, and the desmopressin infusion test is useful for differential diagnosis.     

Bone metabolism markers and bone mineral density in children with neurofibromatosis type-1

Some experimental studies suggested that there may be a bone formation defect rather than a disorder in bone resorption in patients NF1. The aim of this study was to determine bone mineral density (BMD) with dual-energy X-ray absorptiometry (DEXA) and investigate specific bone formation and bone resorption and bone turnover markers in children with NF1. Thirty-two children and adolescents (16 boys, 16 girls; 16 prepubertal, 16 pubertal) with NF1 were recruited. Their age ranged from 3 to 17 years. They were compared with matched healthy children. Dual-energy X-ray absorptiometry were applied to 26 patients and 27 controls. Nine of 32 subjects with NF1 had a skeletal abnormality. BMD of the lumbar spine, and femoral neck in NF1 patients significantly decreased compared to that of healthy subjects. They were also significantly decreased in pubertal patients when compared to pubertal controls and in prepubertal patients when compared to prepubertal controls. Patients with skeletal abnormalities were found to have significantly lower level of osteocalcin when compared to patients without skeletal abnormality. Other biochemical markers did not exhibit any difference between the groups. In conclusion, our findings suggest that bone formation markers rather than DEXA could be good predictors of skeletal abnormalities among NF1 patients. However, in our study the number of the NF1 patients with skeletal abnormality and the number of bone formation markers studied were all limited. It is appropriate to perform larger studies with other bone formation markers beside osteocalcin.     

Identifying cardiovascular risk factors in a patient population with coronary artery ectasia

Coronary artery ectasia (CAE) is frequently considered as a form of coronary artery disease. Cardiovascular risk factors were determined in a patient population with CAE. The 51 patients with isolated CAE (group 1), 61 patients with CAE coexisting with significant coronary stenosis (group 2), and 62 subjects with significant coronary stenosis (group 3) were included in the study, and the distribution of cardiovascular risk factors was compared. Thirty of 51 patients with isolated CAE had presented with typical angina pectoris, 8 patients with unstable angina pectoris, and 13 patients had atypical chest pain or palpitation. The 21 of 51 patients with isolated CAE had definitive positive treadmill exercise test results. Positive family history was similar in each group. The history of smoking was similar in group 1 and group 2 but higher than group 3. Frequency of hypertension was similar in group 1 and group 2 but higher than that in group 3. Frequency of diabetes mellitus was similar in group 1 and group 2 but lower than group 3. Plasma lipid levels and the number of patients with lipid disturbances were also similar in each group. In addition, C-reactive protein (CRP) levels were above the normal limits and there was no difference among groups with respect to plasma CRP levels. CAE appears to be associated with traditional cardiovascular risk factors such as hypertension, smoking, and hyperlipidemia. In addition, elevated CRP level in patients with CAE may suggest the role of inflammatory process in development of CAE.     

Utility of Head/Abdomen Circumference Ratio in the Evaluation of Severe Early-Onset Intrauterine Growth Restriction

ObjectiveTo determine whether the predominant phenotype of intrauterine growth restriction (IUGR) is symmetric or asymmetric in severe, early-onset disease due to placental insufficiency.MethodsWe conducted a retrospective chart review of high-risk pregnant women with severe, early-onset IUGR who were delivering at < 33+0 weeks’ gestation at Mount Sinai Hospital from 2001 to 2010. Ultrasound images were reviewed for fetal biometry, amniotic fluid volume, and uterine and umbilical Doppler flow studies within seven days of delivery, and the frequency of head circumference/abdominal circumference ratio ≥ 95th percentile for gestation was determined.ResultsSixty-two of 107 pregnancies (58%) with early-onset IUGR had an elevated HC/AC ratio (≥ 95th percentile), which was more than 10-fold greater than the expected proportion (P < 0.001). High rates of severe preeclampsia (53%), abnormal amniotic fluid (70%), and abnormal uterine artery Doppler studies (78%) indicated placental insufficiency.ConclusionFetuses with severe placental IUGR in the second trimester are more likely to have an asymmetric phenotype. This is in contrast to the current belief that asymmetric IUGR is confined to third trimester IUGR.