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WOS: 000317788800014, PubMed ID: 24981533, beta-aminoisobutyric acid (BAIBA) has been studied in isolation conditions: in the gas phase and trapped into a cryogenic N-2 matrix. A solid sample of the compound was vaporized by laser ablation and investigated through their rotational spectra in a supersonic expansion using two different spectroscopic techniques: broadband chirped pulse Fourier transform microwave spectroscopy and conventional molecular beam Fourier transform microwave spectroscopy. Four conformers with structures of two types could be successfully identified by comparison of the experimental rotational and N-14 nuclear quadruple coupling constants with those predicted theoretically: type A, bearing an OH center dot center dot center dot N intramolecular hydrogen bond and its carboxylic group in the trans geometry (H-O-C=O dihedral similar to 180 degrees), and type B, having an NH center dot center dot center dot O bond and the cis arrangement of the carboxylic group. These two types of conformers could also be trapped from the gas phase into a cryogenic N-2 matrix and probed by Fourier transform infrared (IR) spectroscopy. In situ irradiation of BAIBA isolated in N-2 matrix of type B conformers using near-IR radiation tuned at the frequency of the O-H stretching 1st overtone (similar to 6930 cm(-1)) of these forms allowed to selectively convert them into type A conformers and into a new type of conformers of higher energy (type D) bearing an NH center dot center dot O=C bond and a O-H "free" trans carboxylic group, COMPETE-QREN-EU [PTDC/QUI-QUI/111879/2009]; Portugal-Spain Bilateral Project [E-7 CRUP-MCI 2011-E03]; Ministerio de Ciencia y Innovacion [CTQ 2006-05981/BQU, CTQ 2010-19008]; Consolider Ingenio [CSD 2009-00038]; Junta de Castilla y Leon [VA070A08]; Spain-Portugal Bilateral Project [AIB2010PT-00315], These studies were performed under projects PTDC/QUI-QUI/111879/2009 (also funded by COMPETE-QREN-EU) and the Portugal-Spain Bilateral Project E-7 CRUP-MCI 2011-E03. This work has also been supported by the Ministerio de Ciencia y Innovacion (Grant Nos. CTQ 2006-05981/BQU and CTQ 2010-19008), Consolider Ingenio 2010 (Grant No. CSD 2009-00038), Junta de Castilla y Leon (Grant No. VA070A08), and the Spain-Portugal Bilateral Project AIB2010PT-00315.

After some years of empirical observation which pointed to the possibility of using the Strumpell phenomenon (SPh) electromyographic register (EMG) as a helpful tool in pyramidal syndrome diagnosis, the author began to study the SPh systematically, from March 1987 on, during the EMG examination of the anterior tibial muscles. The EMG was always effected with a needle concentric electrode and a calibration of 0.05 to 0.2mV and ls per division. The patient, lying on the back, is asked to slowly and completely stretch his thigh, and a positive SPh displays an EMG which shows unvoluntary tonic contractions of growing amplitude on the anterior tibial muscle during its extension. In order to establish an EMG systematic schedule of this synkinesia and to be able to evaluate its relevance for pyramidal syndrome diagnosis, the author revised all 579 EMG registers he had established from March-1987 on. 26 reports (4.49%) belonged to SPh-positive patients, and it was possible to detect or to confirm that they presented a pyramidal syndrome. 20 patients of similar age who showed no pyramidal sign presented EMG silence (90%) or some clonic contractions (10%) on the tibial muscle during SPh research. The author suggests, therefore, the inclusion of SPh research into the conventional EMG examination of the anterior tibial muscles, specially in cases of amyotrophic lateral sclerosis and in cases presenting myeloradicular or spinal cord syndromes.

A cases of myotubular myopathy in a 10 years old girl is reported. Clinically, palpebral ptosis, ocular movements limitation, facial diplegia, positivity of Gower's test, muscular hypotrophy distal, foot drop and deep absent reflexes were found. These signals were described by most of authors, besides symptoms referred, like partial urinary incontinency and frequent vomits. Reflexes H absents and teary in our patient were observed but were not described in the other cases of the literature. Routine laboratory tests were within normal limits; only aldolase was lightly elevated. In all muscles examined it was noted a spontaneous electromyographic activity with +- of 2,64 +/- 1,33 ms, 36,87 +/- 30,87 microV and 88,13 +/- 24,82 /s of frequency without characteristics of desenervation potentials of myoneural plates. The voluntary electromyographic activity was of myopathic pattern. A curve I/D made in the motor point of braquial biceps muscle was normal. The biopsy was made in the motor point of this muscle for histochemical, electron immunofluorescence and vital stain microscopy. The biopsy showed 35% of fibras with central nuclei, predominance and hypotrophy of type I fibres, in some of them there were not myofibrils in the central zone, and poor differentiation between the fibre types in oxidative enzymes reactions. The electron microscopy confirmed the histochemical studies. The direct immunofluorescence was positive in some fibres. The vital stain showed beaded subterminal motor fibres. The clinical, electromyographic and principally histological findings suggest a innervation congenital disorder of muscle fibres.

Quatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída particular ênfase às formas entre a moléstia de Charcot-Marie-Tooth e a de Friedreich. Nos casos apresentados havia sinais clínicos da amiotrofia de Charcot-Marie-Tooth e da degeneração espinocerebelar de Friedreich. No estudo genético foram observadas aberrações cromossômicas, fenômeno inédito na moléstia de Charcot-Marie-Tooth. Four brothers with Charcot-Marie-Tooth disease are studied clinically and genetically. By comparing the symptomatology, the mixed clinical forms within the great group of heredodegenerative diseases are enfazised, with special attention to the intermediate forms between Charcot-MarieTooth and Friedreich diseases. In the present cases there were signs of Charcot-Marie-Tooth's peroneal muscular atrophy and Friedreich's spinocerebelar degeneration. By the genetic study a cromosomal breakage, an unusual phenomenon in Charcot-Marie-Tooth disease, was observed.