Expanding the spectrum of neonatal-onset AIFM1-associated disorders.

OBJECTIVES: Pathogenic variants in AIFM1 have been associated with a wide spectrum of disorders, spanning from CMT4X to mitochondrial encephalopathy. Here we present a novel phenotype and review the existing literature on AIFM1-related disorders. METHODS: We performed EEG recordings, brain MRI and MR Spectroscopy, metabolic screening, echocardiogram, clinical exome sequencing (CES) and family study. Effects of the variant were established on cultured fibroblasts from skin punch biopsy. RESULTS: The patient presented with drug-resistant, electro-clinical, multifocal seizures 6 h after birth. Brain MRI revealed prominent brain swelling of both hemispheres and widespread signal alteration in large part of the cortex and of the thalami, with sparing of the basal nuclei. CES analysis revealed the likely pathogenic variant c.5T>C; p.(Phe2Ser) in the AIFM1 gene. The affected amino acid residue is located in the mitochondrial targeting sequence. Functional studies on cultured fibroblast showed a clear reduction in AIFM1 protein amount and defective activities of respiratory chain complexes I, III and IV. No evidence of protein mislocalization or accumulation of precursor protein was observed. Riboflavin, Coenzyme Q10 and thiamine supplementation was therefore given. At 6 months of age, the patient exhibited microcephaly but did not experience any further deterioration. He is still fed orally and there is no evidence of muscle weakness or atrophy. INTERPRETATION: This is the first AIFM1 case associated with neonatal seizures and diffuse white matter involvement with relative sparing of basal ganglia, in the absence of clinical signs suggestive of myopathy or motor neuron disease.

Efeito positivo da técnica de imposição de mãos análoga ao toque quântico sobre o crescimento das radículas de sementes de feijão submetidas ao estresse salino / Positive effect of the laying-on of hands technique analogue to the quantum touch on the radicles growth of bean seeds submitted to salinity stress

Introdução: o biocampo é um tipo de energia sutil emitido pelos organismos vivos que tem a capacidade de influenciar processos biológicos e a homeostase. O biocampo também pode ser definido como sendo o campo eletromagnético endógeno dos corpos de organismos vivos. Objetivo: determinar o efeito da técnica de imposição de mãos análoga ao toque quântico sobre o crescimento de radículas de sementes de feijão (Phaseolus vulgaris) submetidas ao modelo experimental de adoecimento do estresse salino. Método: a amostra de 1600 sementes de feijão foi distribuída equitativamente em quatro grupos: GE1 (sementes expostas ao toque quântico e ao estresse salino), GC1 (sementes submetidas apenas ao estresse salino), GE2 (sementes expostas ao toque quântico, mas não ao estresse salino) e GC2 (sementes não foram submetidas nem ao toque quântico e nem ao estresse salino). Resultado e Discussão: houve diferença significativa entre os comprimentos médios das radículas das sementes dos quatro grupos (ANOVA, F(3, 1303)=255,51, p <0,001). Conclusão: os resultados indicaram que a terapia de biocampo técnica de imposição de mãosanáloga ao toque quântico teve efeito fisiológico significativo sobre o crescimento de radículas de sementes de feijão submetidas ao estresse salino.

Introduction: the biofield is a kind of subtle energy emitted by living organisms that has the ability to influence biological processes and homeostasis. The biofield can also be defined as the endogenous electromagnetic field of the bodies of living organisms. Objective: the purpose of this study was to determine the effect of the laying-on of hands technique analogue to the quantum touch on the radicles growth of bean seeds (Phaseolus vulgaris) submitted to salinity stress. Methods: the sample of 1600 bean seeds was distributed equitably in four groups: GE1 (seeds exposed to quantum touch and salinity stress), GC1 (seeds exposed only to salinity stress), GE2 (seeds exposed quantum touch but not to salinity stress) and GC2 (seeds were not exposed to either quantum touch or salinity stress). Results and Discussion: there was a significant difference between the mean radicles lengths of the seeds of the four groups (ANOVA, F(3, 1303)=255,51, p <0,001). Conclusion: the results indicated that the laying-on of hands technique analogue to the quantum touch had a significant physiological effect on the growth of bean seeds radicles exposed to salinity stress.

Índice de velocidade de emergência de sementes de feijão preto (Phaseolus vulgaris) tratadas com toque quântico / Speed of emergence-index of black bean seeds (phaseolus vulgaris) treated with quantum touch

Introdução: a literatura tem descrito evidências sólidas de que as terapias de biocampo de imposição de mãos possuem eficácia clínica no tratamento complementar de várias doenças. O teste de germinação de sementes tem sido um método indicado na investigação de efeito fisiológico de terapias de biocampo de imposição de mãos porque possibilita tanto a supressão do efeito placebo quanto o escrupuloso controle das condições experimentais. Objetivo: determinar o índice de velocidade de emergência (IVE) de sementes de feijão (Phaseolus vulgaris) tratadas com terapia de biocampo toque quântico. Método: Foi distribuída a amostra de 96 sementes de feijão equitativamente em dois grupos: Experimental (com tratamento de toque quântico durante 10 minutos antes da semeadura em substrato de latossolo vermelho escuro) e Controle (sem tratamento antes da semeadura em substrato de latossolo vermelho escuro). Resultado: não houve diferença significativa entre os IVE das sementes dos grupos Experimental e de Controle. Conclusão: concluiu-se que o toque quântico não teve efeito fisiológico sobre a velocidade de emergência de sementes de feijão. (AU)

Introduction: the literature has described solid evidence that hand-imposing biofields have clinical efficacy in the treatment of several diseases. Seed germination testing has been an indicated method in investigating the physiological effect of hand imposing biofields because it enables both the suppression of the placebo effect and the scrupulous control of experimental conditions. Objective: the purpose of this study was to determine the speed of emergence-index (SEI) of bean seeds (Phaseolus vulgaris) treated with quantum touch biofield therapy. Method: the sample of 96 bean seeds was distributed equitably in two groups: Experimental (with quantum touch treatment for 10 minutes before sowing on dark-red latosol substrate) and Control (without treatment before sowing on dark-red latosol substrate). Results: the results indicated that there was no significant difference between the SEI of the seeds of the Experimental and Control groups. Conclusion: In the present conditions, the quantum touch biofield therapy had no physiological effect on the speed of emergence of bean seeds. (AU)