Reliability of the Dominic-R: A Young Child Mental Health Questionnaire Combining Visual and Auditory Stimuli

Reliability of the Dominic-R, a. questionnaire combining visual and auditory stimuli, was tested in 340 community children aged 6 to 11 years. Test-retest reliability of symptoms of, and of symptom scores of, DSM-III-R disorders including simple phobias, separation anxiety disorder, overanxious disorder, depression/dysthymia, attention deficit/ hyperactivity disorder, oppositional defiant disorder, and conduct disorder was assessed. Most symptoms yielded kappas greater than .40, and ICCs ranged from .74 to .81. In conclusion, reliability of the Dominic-R compares favourably with that of other child assessment questionnaires.     

Coexistence of an adrenocortical carcinoma with an abdominal ganglioneuroma in a child

We report a 3-year, 5-month-old boy with an adrenocortical carcinoma. These tumours are rare and highly malignant in childhood. In most cases they are functional, secreting adrenocortical hormones. In this case there was a misleading coexistence with a second abdominal neoplasm, which was a ganglioneuroma; this is a rare benign tumour arising from the sympathetic nervous system. The imaging investigations and their findings are discussed and correlated with pathology. Received: 15 January 1997 Accepted: 15 October 1997     

Simultaneous blockade of adenosine A2A and metabotropic glutamate mGlu5 receptors increase their efficacy in reversing Parkinsonian deficits in rats.

Recent evidence suggest that antagonism of adenosine A2A receptors represent an alternative therapeutic approach to Parkinson's disease (PD). Coactivation of A2A and the glutamate subtype 5 metabotropic receptors (mGlu5) synergistically stimulates DARPP-32 phosphorylation and c-fos expression in the striatum. This study therefore tested the effects of a joint blockade of these receptors to alleviate the motor dysfunction in a rat model of PD. 6-Hydroxydopamine infusions in the striatum produced akinetic deficits in rats trained to release a lever after a stimulus in a reaction time (RT) task. At 2 weeks after the lesion, A2A and mGlu5 receptors selective antagonists 8-(3-chlorostyryl)caffeine (CSC) and 2-methyl-6-(phenylethynyl)-pyridine (MPEP) were administered daily for 3 weeks either as a single or joint treatment. Injections of CSC (1.25 mg/kg) and MPEP (1.5 mg/kg) separately or in combination reduced the increase of delayed responses and RTs induced by 6-OHDA lesions, while the same treatment had no effect in controls. Furthermore, coadministration of lower doses of 0.625 mg/kg CSC and 0.375 mg/kg MPEP noneffective as a single treatment promoted a full and immediate recovery of akinesia, which was found to be more efficient than the separate blockade of these receptors. These results demonstrate that the combined inactivation of A2A and mGlu5 receptor potentiate their beneficial effects supporting this pharmacological strategy as a promising anti-Parkinsonian therapy.     

How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45

Mutations in the VPS45 gene lead to a severe primary immune deficiency characterized by severe congenital neutropenia and primary myelofibrosis, leading to overwhelming infection and early death. This condition is exceedingly rare with only 16 patients previously reported, including four with successful hematopoietic stem cell transplantation. We review the pathophysiology underlying this condition and detail our approach to treatment, particularly vis‐à‐vis bone marrow transplantation and the challenges of transplanting into a diseased bone marrow niche. We provide an update on the progress of our three previously reported patients, and two additional patients transplanted at our center.     

Primary vertebral osteosarcoma: Five cases

Primary vertebral osteosarcoma is a rare type of osteosarcoma, differing from the appendicular forms by an incidence peak occurring at a higher age and a poorer prognosis, due to the difficulties of the surgical treatment. We present five cases of histologically proven primary vertebral osteosarcomas followed in our institution between 2004 and 2012. They allow to illustrate some essential radiologic features, useful to evoke this rare entity.     

Mesio-temporal ictal semiology as an indicator for surgical treatment of epilepsies with large multilobar cerebral lesions

PurposeMesio-temporal ictal semiology is sometimes observed in patients with large multilobar lesion. In this situation, surgery is often discarded because of the lesion size and/or suspicion of extended or multifocal epileptogenic areas. In this retrospective study we evaluated the surgical outcome of such patients in order to assess whether the electro-clinical presentation of seizures could be a prognostic marker of surgical outcome.MethodsAmong the temporal lobe epilepsy population explored in our department between 2000 and 2011 (240 patients), we identified 7 patients who presented an extensive lesion on brain Magnetic Resonance Imaging (MRI) (multilobar in four, hemispheric in two, and bilateral in one). All patients underwent ¹⁸Fluorodeoxyglucose Positron Emission Tomography, which showed large, hemispheric or multilobar, areas of glucose hypometabolism. Because of the large lesion size, all patients were explored by stereoelectroencephalography (SEEG) before taking a decision regarding surgical indication.ResultsSEEG confirmed the temporal origin of the seizures and discarded the possibility of multiple epileptogenic zones. A temporal lobectomy, tailored on the basis of SEEG data, was proposed to the seven patients. The seven patients are classified Engel class I after the surgery (mean follow-up: 37.4 ± 22.1 months).ConclusionOur data thus suggest that, even in the absence of hippocampal MRI abnormality, ictal symptoms compatible with a temporal origin of seizures should be considered as a reliable indicator for surgery eligibility regardless of MRI lesion size. On the basis of our findings, the mesio-temporal semiology of seizures appears as one of the most reliable markers of operability in patients with large MRI lesions. These patients should not be excluded a priori from invasive exploration and surgical treatment, even if a large portion of their lesion is likely to be left in place after surgery.