Congenital myopathies

The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show remarkable genetic heterogeneity. This review of congenital myopathies examines progress in defining clinical diagnostic criteria and novel genetic advances that have provided important clues regarding their pathogeneses.     

Strongyloidiasis histologically mimicking eosinophilic folliculitis

The authors report an unusual case of strongyloidiasis in an Italian patient, who has always lived in Sicily. The patient presented with marked blood eosinophilia and an itching maculo-papular eruption, histologically simulating eosinophilic folliculitis. The clinical resolution was achieved after albendazol therapy.     

Hermann Zingerle's "Impaired perception of the own body due to organic brain disorders". 1913. An introductory comment, and an abridged translation

In the late 1970's Edoardo Bisiach and his coworkers provided definitive evidence that spatial unilateral neglect involves a disorder of the internal representation of extra-personal space. A few years later Bisiach and Berti (1987) revived the so far neglected contribution of an Austrian neurologist, Hermann Zingerle (1913). Ninety years ago Zingerle had described the symptom-complex of two right-brain-damaged patients, who showed left hemisomatoagnosia, unawareness of left hemiplegia, and left motor neglect. In addition to the detailed case reports, Zingerle had put forward a unitary interpretation of these deficits in terms of a disordered representation of one side of the body (dyschiria). A unitary representational account of these unilateral impairments was conspicuously absent in the contemporary neurological literature (Anton, Pick, Babinski), and attracted Bisiach's interest. An abridged translation of Zingerle's paper is provided. The clinical case reports and Zingerle's conclusions are discussed, with reference both to Bisiach's views, and to present knowledge of unilateral spatial neglect.     

Beliefs of psychiatric nurses about schizophrenia: a comparison with patients' relatives and psychiatrists

BACKGROUND: What patients' relatives and health professionals think about causes, treatments and psychosocial consequences of schizophrenia can influence its detection and outcome. AIMS: To compare the beliefs about schizophrenia in 190 nurses, 110 psychiatrists and 709 relatives of patients with this mental disorder, recruited in 30 randomly selected mental health centres. METHODS: In each centre, the key-relatives of the first consecutive 25 subjects with schizophrenia, and the nurses and psychiatrists who had been working in the service for at least one year, were asked to complete the Questionnaire on the Opinions about Mental Illness (QO). RESULTS: The factors most frequently mentioned by psychiatrists and nurses among the causes of schizophrenia were heredity, stress and family conflicts, while those most frequently mentioned by relatives were stress, traumas and love breakdown. Nurses had opinions: (a) similar to those expressed by psychiatrists concerning patients' ability to work equally as other people, and patients' punishability in case of illegal acts; (b) similar to those expressed by relatives about patients' unpredictability and political rights; (c) significantly different from the other two samples as concerns recognition of patients' affective rights. CONCLUSIONS: Family psychoeducational interventions and nurses' training should address not only clinical aspects but also disability and psychosocial consequences of schizophrenia.     

Diagnostic applications of cardiac multislice CT with sixteen-row scanner: state of the art

Coronary angiography is nowadays the diagnostic standard in the evaluation of coronary artery anatomy, in the identification of stenoses and in the follow-up of revascularization procedures (PTCA-stenting, bypass). The limitations of such technique in terms of invasivity and high cost has targeted research efforts towards the development of non invasive diagnostic tools. Technological evolution in the field of helical CT has provided 2, 4, 8 and 16 detector-row multislice scanners characterized by progressive improvements in terms of spatial and temporal resolution that have made them increasingly suitable for the analysis of moving structures with high quality anatomic detail. The main cardiologic applications of multislice CT include coronary calcium scoring, the evaluation of coronary vascular anatomy and disease, follow-up of revascularization procedures (stenting, bypass), and the evaluation of cardiac walls and chambers. The aim of this paper is to describe the applications of sixteen detector-row multisclice CT in non invasive evaluation of cardiac and coronary diseases.     

Diffuse, micronodular lung disease. The high-resolution CT approach. A pictorial essay

Careful HRCT evaluation of the preferential distribution of micronodular lesions within the secondary lobule provides a fundamental contribution in the correct interpretation of the different associated patterns. This paper suggests a modern diagnostic algorithm that, together with clinical-anamnestic data and additional imaging features, is able to provide a definitive diagnosis or to reduce the possible differential diagnoses.     

Comparative teratogenicity of chlorpyrifos and malathion on Xenopus laevis development

The embryotoxic potential of chlorpyrifos (CPF) and malathion (MTN), two organophosphorus insecticides (OPs), was evaluated by modified Frog Embryo Teratogenesis Assay-Xenopus (FETAX). CPF and MTN were not embryolethal even at the highest concentration tested (6000 microg/l), but both exhibited a powerful teratogenicity. The probit analysis of malformed larva percentages showed a TC(50) of 161.54mug/l for CPF, and a TC(50) of 2394.01 microg/l for MTN. Therefore, CPF teratogenicity was about 15 times higher than MTN. Larvae of both exposed groups were mainly affected by ventral and/or lateral tail flexure coupled with abnormal gut coiling. Histopathological diagnosis displayed abnormal myotomes and myocytes with marked hypertrophies localized at the cell extremity, probably due to a break away of myofibril extremities at the intersomitic junction level. We speculate that this muscular damage was related to inhibition of acetylcholinesterase that showed a clear concentration-response in CPF and MTN exposed larvae. The teratogenic effects of these anti-cholinesterase compounds on Xenopus laevis myogenesis suggest a possible role played by OPs on induction of congenital muscular dystrophy.     

Photodynamic therapy for retinal angiomatous proliferations and pigment epithelium detachment

PURPOSE: To evaluate results of photodynamic therapy (PDT) with verteporfin for subfoveal neovascular age-related macular degeneration (ARMD) with retinal angiomatous proliferation (RAP) and pigment epithelial detachment (PED). DESIGN: Interventional case series. METHODS: Thirteen eyes (11 stage 2 and 2 stage 3 RAP) underwent PDT. Best-corrected visual acuity (BCVA), fluorescein and indocyanine-green angiography were performed to evaluate the outcome. RESULTS: After 13.5 +/- 2.5 months and 1.7 +/- 0.4 treatments, mean BCVA decreased from 20/73 to 20/174 (P = .04). Occlusion of RAP and flattening of PED was observed in three eyes, and persistence of PED in six. Two eyes deteriorated to disciform lesions, one developed hemorrhagic PED, and one evolved toward stage 3 RAP. Three eyes, with PED exceeding 50% of the entire lesion, developed retinal pigment epithelium tear. CONCLUSIONS: PDT might prove effective for neovascular ARMD with RAP and small PED, whereas it might cause acute retinal pigment epithelium tear for RAP with PED exceeding 50% of the lesion.