Evaluation of developmental profiles of children with hydrocephalus

ObjectiveThe objective of this study was to compare the developmental characteristics of children with hydrocephalus with those of healthy children.Material and methodsA total of 109 children aged between 2 and 46 months were included in the study, 54 patients diagnosed with hydrocephalus and 55 healthy children were evaluated with demographic data forms and Denver Developmental Screening Test II.ResultsThe mean personal–social (p < 0.001), fine motor-adaptive (p < 0.001), language (p < 0.001), and gross motor subscale scores were significantly lower in children with hydrocephalus than in the control group. Personal–social (p = 0.002) and gross motor (p = 0.029) subscale scores were significantly lower in children with obstructive hydrocephalus than communicating hydrocephalus. There was a significant negative correlation between language scores and ages of the children with hydrocephalus (r = ?0.350, p = 0.009). It was found that children with obstructive hydrocephalus carry a 6.7 folds higher risk of experiencing problems in terms of personal–social development compared to those with communicating hydrocephalus (p = 0.011).ConclusionWe found that patients with hydrocephalus were developmentally retarded compared to the healthy control subjects. Retardation was the most prominent in the obstructive group. Our results showed that neurodevelopmental follow-up should be carried-out regularly in pediatric patients with hydrocephalus, and early intervention should be started in necessary cases.     

Hemodynamic alterations following a cerebellar arteriovenous malformation resection: Case report and densitometric quantitative analysis from CT imaging

BackgroundCerebellar arteriovenous malformations (cAVMs) are rare and challenging lesions with an aggressive natural history. The mechanisms whereby a patient can worsen clinically after a supratentorial AVM resection include an acute alteration in cerebral hemodynamics, which is a known cause of postoperative hyperemia, edema and/or hemorrhage. These phenomena has not been described for cAVMS. Moreover, the underlying pathophysiology of edema and hemorrhage after AVM resection still remains controversial.MethodsWe report a patient that presented an abrupt neurological deterioration after cAVM surgical resection. Emergent external ventricular drainage to treat incipient hydrocephalus only partially reverted the patient's deterioration. Consecutive post-surgery CT images revealed fourth ventricle compression secondary to cerebellar swelling that concurred with a new neurological deterioration. Densitometric analysis was performed in these CT images to reveal the nature of these changes as well as their evolution over time.ResultsImportantly, we demonstrated a dynamic increase in the cerebellum mean density at the interval of Hounsfield values which correspond to hyperemia values. These changes were dynamic, and when hyperemia resolved and cerebellar density returned to basal levels, the fourth ventricle re-expanded and the patient neurologically recovered.ConclusionsThis study demonstrated the utility of quantitative CT image analysis in the context of hemodynamic alterations following cAVM resection. Densitometric CT analysis demonstrated that hyperemic changes, but not ischemic ones, were time-dependent and were responsible for swelling and hemorrhage that conditioned neurological status and patient's evolution.     

Impact of prognostic nutritional index on survival in recurrent glioblastoma

BackgroundPrimary brain tumors are relatively rare malignancy, with high-grade gliomas (glioblastoma multiforme and anaplastic gliomas) are the most common types. We aimed to evaluate the prognostic value of Prognostic Nutritional Index (PNI), which is calculated by lymphocyte count and albumin, in recurrent glioblastoma patients treated with systemic treatment.MethodsData of 64 patients with recurrent glioblastoma who received systemic treatment and followed in our clinic between 2012 and 2018 was retrospectively collected and analyzed. PNI was calculated as: [(10 × serum albumin (g/dL)) + (0.005 × total lymphocyte count)]. Patients were categorized according to the median PNI value. We investigated the prognostic role of PNI groups, and survival outcomes.ResultsMedian value of PNI was 45.7, and median follow-up duration was 9 months (1–68 months). Median overall survival (OS) was 7.9 months (95%CI: 5.5–10.4). Median OS was significantly longer in patients with PNI > 45.7 compared to patients with PNI ≤ 45.7 (13.9 months (95%CI: 10.5–17.4), and 4.6 months (95%CI: 2.5–6.8), p < 0.001, respectively). In multivariate analysis, PNI was found to be an independent prognostic factor for OS [HR:0.41 (95%CI:0.22–0.74), p = 0.03)].ConclusionIn our study, the PNI was found to be an independent prognostic biomarker in patients with recurrent glioblastoma, but further prospective trials are necessary to validate its prognostic role.     

Myxofibrosarcoma: Another mimicker of meningioma

Primary intracranial malignant fibrous histiocytoma (MFH), or myxofibrosarcoma, is an extremely rare condition, with only a few cases reported in the literature. We report a case of a dural-based myxofibrosarcoma in a previously healthy 42-year-old man that was initially presumed to be an atypical meningioma. The findings based on conventional and advanced magnetic resonance sequences, including diffusion-weighted imaging, perfusion weighted imaging and proton magnetic resonance spectroscopy, as well as histopathological aspects, are discussed.     

Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics,counseling and risk prediction

Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. Approximately 75% of patients carry a variant in one of the five cohesin‐related genes NIPBL, SMC1A, SMC3, RAD21 and HDAC8. Herein we report on the clinical and molecular characterization of 11 patients carrying 10 distinct variants in HDAC8. Given the high number of variants identified so far, we advise sequencing of HDAC8 as an indispensable part of the routine molecular diagnostic for patients with CdLS or CdLS‐overlapping features. The phenotype of our patients is very broad, whereas males tend to be more severely affected than females, who instead often present with less canonical CdLS features. The extensive clinical variability observed in the heterozygous females might be at least partially associated with a completely skewed X‐inactivation, observed in seven out of eight female patients. Our cohort also includes two affected siblings whose unaffected mother was found to be mosaic for the causative mutation inherited to both affected children. This further supports the urgent need for an integration of highly sensitive sequencing technology to allow an appropriate molecular diagnostic, genetic counseling and risk prediction.     

Metabolic clues regarding the enhanced performance of elite endurance athletes from orchiectomy-induced hormonal changes

This article examines the metabolic performance of an elite cyclist, Lance Armstrong, before and after his diagnosis with testicular cancer. Although a champion cyclist in 1-day events prior to his diagnosis of testicular cancer at age 25, he was not a contender in multi-day endurance cycle races such as the 3-week Tour de France. His genetic makeup and physiology (high VO2max, long femur, strong heavy build) coupled with his ambition and motivation enabled him at an early age to become one of the best 1-day cyclists in the world. Following his cancer diagnosis, he underwent a unilateral orchiectomy, brain surgery and four cycles of chemotherapy. After recovering, he returned to cycling and surprisingly excelled in the Tour de France, winning this hardest of endurance events 7 years running. This dramatic transformation from a 1-day to a 3-week endurance champion has led many to query how this is possible, and under the current climate, has led to suggestions of doping as to the answer to this metamorphosis. Physiological tests following his recovery indicated that physiological parameters such as VO2max were not affected by the unilateral orchiectomy and chemotherapy. We propose that his dramatic improvement in recovery between stages, the most important factor in winning multi-day stage races, is due to his unilateral orchiectomy, a procedure that results in permanent changes in serum hormones. These hormonal changes, specifically an increase in gonadotropins (and prolactin) required to maintain serum testosterone levels, alter fuel metabolism; increasing hormone sensitive lipase expression and activity, promoting increased free fatty acid (FFA) mobilization to, and utilization by, muscles, thereby decreasing the requirement to expend limiting glycogen stores before, during and after exercise. Such hormonal changes also have been associated with ketone body production, improvements in muscle repair and haematocrit levels and may facilitate the loss of body weight, thereby increasing power to weight ratio. Taken together, these hormonal changes act to limit glycogen utilization, delay fatigue and enhance recovery thereby allowing for optimal performances on a day-to-day basis. These insights provide the foundation for future studies on the endocrinology of exercise metabolism, and suggest that Lance Armstrong's athletic advantage was not due to drug use.     

Chagas disease: screening tests evaluation in a blood military center, prevalence in the French Army

Chagas disease is a major public health problem in Latin and Central America, 15 to 20 million people are affected and some 100 million is at risk of acquiring Chagas disease. Chagas disease starts to appear in amazonian area and french Guyana. Three kits: Elisa Novagnost (Dade Behring), BioElisa Chagas (Orgentec) et Elisa Cruzi (BioMérieux) were compared using performance panel. Sensibility, reproductibility and specificity (using 40 serum of blood donors who never went to an endemic area) were evaluated. Orgentec assay (recombinant antigens) and BioMérieux assay (whole-epimastigote antigens) performed better than Dade Behring assay. The latter was discarded from the study at this stage. Lack of sensibility seems due to the antigenic composition. Reproductibility and specificity are good for the other two tests. Mixtures of recombinants antigens increased specificity, but sensibility is better using mixtures of whole-epimastigote antigens. For routine blood donor screening both tests must be performed. A prevalence study was done during 11 months on 1570 serum of military blood donors. Despite of a low prevalence (less than 0.7 per thousand), the entire donation from donors who were in the endemic area (7.95% from our whole population) are screened for antibody against Trypanosoma cruzi, with these two assays.