Prognostic factors in surgically resected N2 non-small cell lung cancer: the importance of patterns of mediastinal lymph nodes metastases.

Objective: Patients with non-small cell lung cancer (NSCLC) with metastases to ipsilateral mediastinal lymph nodes (N2) are an heterogeneous group of patients as regard to prognosis and treatment. Indication and timing of surgery remain controversial. The present study investigates the prognostic factors, in order to identify homogenous subgroups of patients.

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

We set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen patients with autosomal dominant hereditary spastic paraplegia (AD-HSP) for mutations in SPG4. Six patients had a complicated form and 49 a pure HSP phenotype. We also analyzed 19 unrelated patients presenting with an HSP phenotype (pure in 17 and complicated in two subjects) but no clear family history, as such patients may be cases of dominant inheritance with low penetrance.

The role of intraoperative electromyographic monitoring in lumbosacral lipomas.

Objective: To demonstrate the role of intraoperative multichannel electromyographic (EMG) monitoring to reduce postoperative deterioration and achieve full untethering of complex occult dysraphisms.

Methods: A retrospective analysis was performed on 66 patients who underwent operation for lumbosacral lipomas. Twenty recent cases were submitted to EMG monitoring and stimulation.

Meningiomas invading the superior sagittal sinus: surgical experience in 108 cases.

Objective: Radical resection of meningiomas invading the superior sagittal sinus (SSS) presents several hazards. Some surgeons consider SSS invasion a contraindication for complete resection, and others advocate total resection with venous reconstruction. There is a lack of published large series to provide definitive guidelines for the surgical treatment of these complex cases.

Spinal dural arteriovenous fistulae: analysis of outcome in relation to pretreatment indicators.

Objective: The outcome of treatment for a spinal dural arteriovenous fistula is unpredictable. In this study, we reviewed the outcome of patients treated for this condition, in relation to pretreatment indicators.

Methods: We reviewed the records of 37 consecutive patients treated either surgically or endovascularly in our department between 1989 and 2002.

[The epidemic of dengue and hemorrhagic dengue fever in the city of Rio de Janeiro, 2001/2002].

The following study was intended to evaluate the occurrence of typical signs and symptoms in the cases of classic dengue and hemorrhagic dengue fever, during the 2001-2002 epidemic in the city of Rio de Janeiro. The authors reviewed 155,242 cases notified to the Information System of Notification Diseases, from January/2001 to June/2002: 81,327 cases were classified as classic dengue and 958 as hemorrhagic dengue fever, with a total of 60 deaths. Common symptoms, such as fever, headache, prostration, myalgia, nausea and retro-orbital pain, had a high incidence in both classic and hemorrhagic dengue fever.

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.

Background: A complicated form of recessive hereditary spastic paraplegias (HSPs) with thin corpus callosum (TCC) was first described in Japan, and most of the Japanese families showed linkage to chromosome 15q13-15. A recessive HSP locus (SPG11) has also been mapped to chromosome 15q13-15 in Italian and North American families with and without TCC, and it overlaps the region identified in the Japanese families.

Objective: To study clinically and genetically 12 Italian families with HSP and TCC.

The prognostic role of c-kit protein expression in resected large cell neuroendocrine carcinoma of the lung.

Background: Large cell neuroendocrine carcinoma (LCNEC) is a high-grade neuroendocrine tumor of the lung that shares some clinicopathologic and molecular features with small cell lung carcinoma (SCLC). Optimal treatment has not yet been standardized and significant prognostic factors are lacking. Because c-kit protein overexpression has been recently reported as a negative prognostic factor in SCLC we investigated its expression and prognostic value in a series of LCNEC.

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS is frequent in the Charlevoix-Saguenay region of Quebec but rare elsewhere. Mutations in SACS, encoding sacsin, a protein of unknown function, are associated with ARSACS.

Detection of deleted mitochondrial DNA in Kearns-Sayre syndrome using laser capture microdissection.

A novel 4949-base pair mitochondrial DNA (mtDNA) deletion was detected in various tissues in a postmortem study of a patient with Kearns-Sayre syndrome (KSS). Deleted mtDNA levels were higher in skeletal muscle and brain and lower in kidney, working myocardium, and endocrine tissues (thyroid, parathyroids, pancreas, and adrenal glands). The distribution of the deletion in skeletal muscle and conducting myocardium was analyzed by means of laser capture microdissection (LCM).

Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family.

Background: Gerstmann-Sträussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs.

Methods: We report a new large Italian family affected by Gerstmann-Sträussler-Scheinker disease.

Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.

We report clinical and molecular findings in 14 patients with cleidocranial dysplasia (CCD), a well defined skeletal disorder with characteristic clinical findings and autosomal dominant inheritance. We identified ten heterozygous base changes in the RUNX2 gene, including six novel mutations [c.522insA, c.

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

Objectives: The purpose of this study was to understand the clinical and molecular features of familial hypertrophic cardiomyopathy (HCM) in which a mitochondrial abnormality was strongly suspected.

Background: Defects of the mitochondrial genome are responsible for a heterogeneous group of clinical disorders, including cardiomyopathy. The majority of pathogenic mutations are heteroplasmic, with mutated and wild-type mitochondrial deoxyribonucleic acid (mtDNA) coexisting within the same cell.

Current insights into familial spastic paraparesis: new advances in an old disease.

Hereditary spastic paraparesis (HSP) comprises a clinically and genetically heterogeneous group of disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. The past few years have witnessed an exponential increase in knowledge of this disease and we can now list 19 loci mapped on the human genome and eight genes cloned. However, this wider knowledge of the molecular basis of HSP has had limited impact on clinical practice: the use of antispastic drugs and regular physiotherapy still remain crucial in the therapeutic management of patients.

Role of glycolysis in the energy production for the non-mechanical myocardial work in isolated pig hearts.

Background: The dissociation of mechanical from non-mechanical energy utilisation can be studied using BDM (2,3-butanedione monoxime), which inhibits the actin-myosin interaction without inhibiting Ca2+ transport. The objective of the present study was to establish if increasing the non-mechanical energy demand of perfused isolated pig hearts by dobutamine stimulation requires glycolysis with increased exogenous glucose uptake.

Methods: Five isolated pig hearts (CTRL) were perfused for 90 min at constant flow (1 ml g(-1) min(-1)) with non-recirculating blood containing 30 mM BDM and 26 MBq/l of fluorine-18 2-fluoro-2-deoxyglucose (IFDG).

SPG3A: An additional family carrying a new atlastin mutation.

The authors report on a novel frameshift mutation (c.1688insA) in the SPG3A gene resulting in premature translation termination of the gene product atlastin. These data add a new variant to the second disease gene in autosomal dominant hereditary spastic paraplegia (ADHSP) and lend definitive support to its causative role.

Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study.

An epidemiological survey of Charcot-Marie-Tooth disease (CMT) was conducted in Molise, a central-southern region of Italy, from March 1998 to June 2000. Fifty-eight cases of CMT in 13 unrelated families were identified within the selected area. The prevalence of all subtypes of CMT was 17.

Mapping myocardial perfusion with an intravascular MR contrast agent: robustness of deconvolution methods at various blood flows.

Evaluation of quantitative parameters such as regional myocardial blood flow (rMBF), blood volume (rMBV), and mean transit time (rMTT) by MRI is gaining acceptance for clinical applications, but still lacks robust postprocessing methods for map generation. Moreover, robustness should be preserved over the full range of myocardial flows and volumes. Using experimental data from an isolated pig heart preparation, synthetic MR kinetics were generated and four deconvolution approaches were evaluated.

Electromyographic mixed nerve and cutaneous silent period in evaluating the A-delta fibres in a patient with hereditary sensory-autonomic neuropathy.

The aim of this study was to evaluate A-delta fibre function in a patient with hereditary sensory-autonomic neuropathy (HSAN). We used the mixed and cutaneous silent period techniques in addition to a conventional electromyographic investigation in a patient with type 2 HSAN, a rare disease characterised by wide-spread sensory and variable autonomic dysfunction caused by incomplete development of sensory and autonomic neurons. Whereas the stimulation of one digital nerve did not show any evidence of silent period in either the left or the right hand, the simultaneous stimulation of two digital nerves, as well as the stimulation of a mixed nerve, revealed a measurable delayed and shortened silent period.

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.

We studied nine Italian families with a pure form of autosomal dominant spastic paraplegia (ADHSP) to assess the frequency of mutations in the SPG4 gene. We observed marked intrafamilial variability in both age-at-onset and clinical severity, ranging from severe congenital presentation to mild involvement after age 55 years to healthy carriers of the mutation after age 70. Four of nine probands harboured SPG4 mutations, We identified three new SPG4 mutations, all predicting a loss-of-func-tion with apparently important consequences for spastin function.