SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family

SIGMAR1 gene encodes a non-opioid endoplasmic reticulum (ER) protein which is involved in a large diversity of cell functions and is expressed ubiquitously in both central and peripheral nervous systems. Alterations of its normal function may contribute to two different phenotypes: juvenile amyotrophic lateral sclerosis (ALS 16) and distal hereditary motor neuropathies (dHMN). We present the case of a female patient, of 37-years-old, with distal muscle weakness and atrophy beginning in childhood and slowly progressive in the first two decades of life. Neurological examination revealed a symmetrical severe muscle wasting and weakness in distal lower and upper limbs, with claw hands, footdrop with equinovarus deformity and hammer toes, generalized areflexia and normal sensory examination. The electrodiagnostic study revealed a pure chronic motor peripheral nerve involvement without signs of demyelination. The molecular study found the deletion c.561_576del on exon 4 and a deletion of all exon 4, in the SIGMAR1 gene.info:eu-repo/semantics/publishedVersio

Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene

Limb-girdle muscular dystrophy 2G is caused by mutations in the telethonin (TCAP) gene in chromosome 17q11-12. This rare form of hereditary muscle disease was originally described in Brazilian patients and was recently identified in Chinese and Moldavian patients. We present the first Portuguese patient with a limb-girdle muscular dystrophy caused by a mutation in the TCAP gene. A Caucasian male, 50 years old, presented in his early twenties, slowly progressive weakness in upper and lower limbs. Neurologic examination revealed severe atrophy and weakness in the muscles of the arms, thighs and legs' anterior compartment. Muscle MRI of the thighs and legs revealed severe atrophy of all the muscles of the thighs and legs' anterolateral compartment, in a symmetrical way. Molecular studies identified the homozygous c.157C > T (p.Gln53X) mutation in exon 2 of the TCAP gene, already described in Brazilian patients

The effect of xanthohumol-supplemented beer on angiogenic and inflammatory in vivo assays

Angiogenesis is a process by which new blood vessels are formed from pre-existing ones and can occur in adulthood during tissue regeneration. This process is closely related with inflammatory conditions. Due to their notable biological activities, phenolic compounds have an important role in nutrition and human health. Special attention has been given to xanthohumol (XN), a compound present in hops and beer [3]. Our purpose was to evaluate the effects of a XN-supplemented beer on angiogenesis and inflammation, in a rat skin-wound healing process. Six week old Wistar male rats drank water, 5% solution ethanol, stout beer or stout beer supplemented with 10 mg XN/L, during 4 weeks. Then, two incisions were created on the dorsal skin. Animals continued beverages consumption for 7 days. The number of vessels in the incision area (vWF staining), NO release, NAG activity and IL-1β content in serum were measured. Analyses of serum biochemical markers of hepatic function (AST, ALT and ALP activities) and of metabolic status (glucose, triglycerides, cholesterol, VLDL, LDL and HDL) were evaluated. GSH/GSSG plasma levels were measured in plasma by HPLC. Statistical differences were evaluated by ANOVA followed by the Bonferroni test. Differences were considered significant whenever p< 0.05. The consumption of XN-supplemented beer led to decreased number of vessels in the wound area, and decreased NAG activity, NO and IL-1β content in the serum when compared to stout beer. Plasma biochemical markers of hepatic function and metabolic status did not change with the distinct beverages consumption. GSH/GSSG ratio increased with ethanol and beer consumption. Altogether, these findings suggest that gastrointestinal administration of XN-supplemented beer may affect the wound healing process, in what concerns inflammation and angiogenesis, without hepatotoxic effects. Ethanol consumption seems to improve plasma anti-oxidant protection. These health-promoting properties of XN can be interesting to the brewing community.info:eu-repo/semantics/publishedVersio

Deposition and passage of transthyretin through the blood-nerve barrier in recipients of familial amyloid polyneuropathy livers

Familial amyloid polyneuropathy (FAP) is characterized by deposition of mutated transthyretin (TTR) in the peripheral nervous system. Prior to amyloid fibrils, nonfibrillar TTR aggregates are deposited inducing oxidative stress with increased nitration (3-NT). As the major source of TTR is the liver, liver transplantation (LT) is used to halt FAP. Given the shortage of liver donors, domino LT (DLT) using FAP livers is performed. The correlation between TTR deposition in the skin and nerve was tested in biopsies from normal individuals, asymptomatic carriers (FAP 0) and FAP patients; in FAP 0, nonfibrillar TTR was observed both in the skin and nerve in the same individuals; in patients, amyloid was detected in both tissues. The occurrence of amyloidosis in recipients of FAP livers was evaluated 1-7 years after DLT: TTR deposition occurred in the skin 3 years after transplantation either as amyloid or aggregates; in one of the recipients, fibrillar TTR was present in the epineurium 6 years after DLT. Deposits were scarce and 3-NT immunostaining was irrelevant. Nerve biopsies from DLT recipients had no FAP-related neuropathy. Our findings suggest that TTR amyloid formation occurs faster than predicted and that TTR of liver origin can cross the blood-nerve barrier. Recipients of FAP livers should be under surveillance for TTR deposition and tissue damag

An Interesting Charmonium State Formation and Decay : ppˉ→1D2→1P1γp \bar p \to ^1D_2 \to ^1P_1 \gamma

Massless perturbative QCD forbids, at leading order, the exclusive annihilation of proton-antiproton into some charmonium states, which, however, have been observed in the $p\bar p$ channel, indicating the significance of higher order and non perturbative effects in the few GeV energy region. The most well known cases are those of the $^1S_0$ ($\eta_c$) and the $^1P_1$. The case of the $^1D_2$ is considered here and a way of detecting such a state through its typical angular distribution in the radiative decay $^1D_2 \to$ $^1P_1 \gamma$ is suggested. Estimates of the branching ratio $BR(^1D_2 \to p\bar p)$, as given by a quark-diquark model of the nucleon, mass corrections and an instanton induced process are presented.Comment: 9 pages (no figures), Plain TeX, CBPF-NF-014/94, INFNCA-TH-94-

Newborn Urinary Metabolic Signatures of Prematurity and Other Disorders: A Case Control Study

This work assesses the urinary metabolite signature of prematurity in newborns by nuclear magnetic resonance (NMR) spectroscopy, while establishing the role of possible confounders and signature specificity, through comparison to other disorders. Gender and delivery mode are shown to impact importantly on newborn urine composition, their analysis pointing out at specific metabolite variations requiring consideration in unmatched subject groups. Premature newborns are, however, characterized by a stronger signature of varying metabolites, suggestive of disturbances in nucleotide metabolism, lung surfactants biosynthesis and renal function, along with enhancement of tricarboxylic acid (TCA) cycle activity, fatty acids oxidation, and oxidative stress. Comparison with other abnormal conditions (respiratory depression episode, large for gestational age, malformations, jaundice and premature rupture of membranes) reveals that such signature seems to be largely specific of preterm newborns, showing that NMR metabolomics can retrieve particular disorder effects, as well as general stress effects. These results provide valuable novel information on the metabolic impact of prematurity, contributing to the better understanding of its effects on the newborn's state of health.info:eu-repo/semantics/publishedVersio

Newborn Urinary Metabolic Signatures of Prematurity and Other Disorders: A Case Control Study

This work assesses the urinary metabolite signature of prematurity in newborns by nuclear magnetic resonance (NMR) spectroscopy, while establishing the role of possible confounders and signature specificity, through comparison to other disorders. Gender and delivery mode are shown to impact importantly on newborn urine composition, their analysis pointing out at specific metabolite variations requiring consideration in unmatched subject groups. Premature newborns are, however, characterized by a stronger signature of varying metabolites, suggestive of disturbances in nucleotide metabolism, lung surfactants biosynthesis and renal function, along with enhancement of tricarboxylic acid (TCA) cycle activity, fatty acids oxidation, and oxidative stress. Comparison with other abnormal conditions (respiratory depression episode, large for gestational age, malformations, jaundice and premature rupture of membranes) reveals that such signature seems to be largely specific of preterm newborns, showing that NMR metabolomics can retrieve particular disorder effects, as well as general stress effects. These results provide valuable novel information on the metabolic impact of prematurity, contributing to the better understanding of its effects on the newborn's state of health.info:eu-repo/semantics/publishedVersio

Panorama geral da comercialização de alimentos orgânicos no Distrito Federal.

O segmento dos orgânicos oferece grande potencial de expansãodevido a um maior reconhecimento, nas últimas décadas, de sua relevância ambiental, econômica e alimentícia por parte dos consumidores. O estudo teve como objetivo caracterizar a comercialização de alimentos orgânicos oriundos da agricultura familiar no Distrito Federal. Trata-se de pesquisaexploratóriae descritiva, tomando como referência dados CLIUM.ORG|490de estudos realizados pela Companhia Nacional de Abastecimento (CONAB/MAPA), consulta a sites das Comunidades que Sustentam a Agricultura Brasília (CSA Brasília) e da Empresa de Assistência Técnica e Extensão Rural do Distrito Federal (EMATER-DF). A pesquisa foi realizada no período de agosto a dezembro de 2021. Os resultados indicam que as feiras são os principais locais de comercialização de alimentos orgânicos na região, sendo a grande maioria do grupo dashortaliças. Houve uma queda de 35% no número de feiras em função da pandemia de Covid-19. Ao mesmo tempo, foi observado o surgimento e crescimento de novas formas de comercialização, como as CSAs e oDelivery, este último,como resultado do impacto da Covid-19,cresceu cerca de 40