[Bone marrow stem cell transplantation in amyotrophic lateral sclerosis: technical aspects and preliminary results from a clinical trial]. / Terapia celular para la esclerosis lateral amiotrófica: aspectos técnicos y resultados preliminares del estudio CMN/ELA.

Patients with amyotrophic lateral sclerosis (ALS) experience progressive and irreversible paralysis as a result of the continued loss of motor neurons, which leads to death in less than five years. To date, there is no treatment that can change the progression of this disease. Bone marrow stem cells have shown neural regenerative and neural repairing properties. Specifically, our group showed in a murine model of the disease that these cells, when injected in the spinal cord, can rescue motor neurons through the secretion of GDNF. Based on these results, we designed a phase I/II clinical trial for the purpose of demonstrating the viability of the intraspinal injection of autologous bone marrow mononuclear cells in patients with bulbar onset ALS, with an evolution between 6 and 36 months, with a forced vital capacity (FVC) 50% and T90 29%. This article describes the technique for extracting 60 mL of bone marrow used for the intervention, processing it by density gradient, and the neurosurgical technique used for implanting it. After 6 months of follow-up, the few adverse events reported in the first seven patients included seem to show that the procedure is safe and viable. Most of these patients, including two with a rapid deterioration, have stabilized the progression of their FVC and the neurologic scales measured. The data obtained so for seem to justify the design of new trials more oriented toward the efficacy of the procedure.

Long-term results of liver transplantation in four siblings from the same family with familial amyloidotic polyneuropathy type I TTR Ala-71.

Familial amyloidotic polyneuropathy type I (FAP I) is a hereditary systemic amyloidosis usually involving the peripheral nervous system. In this paper we report our experience regarding the survival and the evolution of the sensory motor syndrome of the extremities and autonomic dysfunction in four siblings with the Ala-71 variant who were treated by liver transplantation (LT). The four siblings are alive 2-5 years after LT. After the operation, the seriated determinations of TTR-Ala-71 variant showed a constant decrease in serum levels in all cases. Our results support the proposal that LT should be indicated especially in forms with early clinical onset (3rd and 4th decades) and rapid progress to stop the neurological deterioration of the patients.

Granulomatosis de Wegener de presentación con SDRA y fracaso renal agudo con anticuerpos anticitoplasma de neutrófilos / Wegner´s granulomatosis of ards presentation and acute venal failure with antineutrophil cytoplasmic antibodies

Presentamos un caso de síndrome de distress respiratorio del adulto (SDRA) asociado a insuficiencia renal aguda en una enferma diagnosticada unas semanas antes de neumonía redonda. Se realizó a la enferma biopsia pulmonar por mini-toracotomía que sólo encontró hallazgos caracteristicos de SDRA. La enferma fue tratada con corticoides y ciclofosfamida en base a la positividad de c-ANCA. Se discute la utilidad de esta determinación en la enfermedad de Wegener y se concluye que esta determinación debe realizarse en este contexto clínico e instaurar tratamiento imnunosupresor ante su positividad (AU)

[Wegener's granulomatosis presenting with ARDS and acute kidney failure with neutrophil anticytoplasmic+ antibodies]. / Granulomatosis de Wegener de presentación con SDRA y fracaso renal agudo con anticuerpos anticitoplasma de neutrófilos.

We report a case of adult respiratory distress syndrome (ARDS) associate to renal failure in a patient labeled of "round pneumonia" some weeks before. An open biopsy was made that only showed typical findings of ARDS. The patient was treated with corticosteroids and cyclophosphamide because of cANCA positivity. We discuss the utility of this determination in Wegener disease and we conclude that this determination should be made in this clinical setting and start immunosuppressive treatment when cANCA is positive.

Long-term results of liver transplantation in familial amyloidotic polyneuropathy type I.

BACKGROUND: The aim of this article is to report our experience regarding the survival and the evolution of polyneuropathy of the extremities and autonomic dysfunction in 18 liver transplant patients with familial amyloidotic polyneuropathy type I after a mean follow-up of more than 2.5 years for 13 patients. METHODS: The actuarial survival rate of the 18 patients is 72.2% and 60.1%, respectively, at 12 and 58 months. RESULTS: In all the patients we noted clinical improvement of the polyneuropathy of the extremities and autonomic dysfunction during the first 6 months after transplant. The clinical data due to autonomic nervous system involvement showed an earlier improvement than those due to nervous motor involvement. CONCLUSIONS: In conclusion, our results suggest that liver transplant may be useful in the treatment of certain cases of familial amyloidotic polyneuropathy to stop the neurological deterioration of the patients and to avoid the fatal end of the disease.

Ratio between the amplitude of sensory evoked potentials at the wrist in both hands of left-handed subjects.

Maximum sensory conduction velocity, duration and amplitude of the sensory evoked potentials at the wrist on stimulating digits 1, 2, 3 and 5, were determined bilaterally in 21 left-handed subjects with an age range from 6 to 47 years. The amplitude of the sensory evoked potential at the wrist was larger in the right hand. This asymmetry is the reverse of the one previously observed in right-handed infants and adults. It could be physiological and suggests a difference in density of sensory innervation between the two hands. Asymmetry of sensory innervation can be helpful in the study of hand dominance.

Single fibre electromyography in central core disease.

Single fibre electromyography in the extensor digitorum communis muscle was studied in five patients with central core disease. The average number of muscle fibre action potentials belonging to the same motor unit was higher in patients than in healthy subjects of the same age. The increase in motor unit fibre density is consistent with increased terminal innervation ratio described in other papers about central core disease.