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1.
Plants (Basel) ; 13(6)2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38592749

RESUMO

Quinoa (Chenopodium quinoa Willd.) is a promising and versatile crop due to its remarkable adaptability to diverse environments and the exceptional nutritional value of its seeds. Nevertheless, despite the recent extensive research on quinoa seeds, the straw associated with this crop has received comparatively little attention. The valorisation of this by-product provides an opportunity to improve the overall outcomes of quinoa cultivation. In this work, three quinoa varieties were evaluated for two years (2019 and 2020) under three different Mediterranean water environments (irrigation, fresh rainfed, and hard rainfed), aiming to assess the straw yield and nutritional quality and to study the changes in the crop nutritional uptake associated with different water environmental conditions. The nutritional analysis included the quantification of the ash, crude protein, crude fat, minerals (P, K, Ca, Mg), and fibre (gross fibre (GF), acid detergent fibre (ADF), neutral detergent fibre (NDF), acid detergent lignin (ADL), hemicellulose, cellulose) contents. As the results reveal, most of the parameters evaluated were susceptible to change mainly with the water environment but also with the genotype (or their interaction), including the yield, crude protein, relative feed value (RFV), and mineral content, which generally decreased under water-limiting conditions. Moreover, a comparative analysis revealed that straw Ca, Mg, and K contents were generally higher than in seeds. Overall, this study demonstrates that quinoa straw quality is genotypic and environmentally dependent, and these factors should be considered when aiming at improving straw feed value for livestock nutrition.

2.
Clin Nucl Med ; 49(2): e65-e67, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38048549

RESUMO

ABSTRACT: [ 99m Tc]Tc-DPD (3,3-diphosphono-1,2-propanodicarboxylic acid) scintigraphy is an essential tool for diagnosing transthyretin amyloid cardiac amyloidosis. An 86-year-old woman suffering from heart failure with preserved ejection fraction underwent [ 99m Tc]Tc-DPD scintigraphy and a SPECT/CT for suspected transthyretin amyloid cardiac amyloidosis. The scan showed intracardiac and liver uptake. As the patient had taken intravenous iron on the morning of the scan, we decided to repeat the scan, but this time, it showed no uptake in the heart or the liver. Accordingly, we concluded the first result was a false positive due to drug interaction.


Assuntos
Amiloidose , Cardiomiopatias , Feminino , Humanos , Idoso de 80 Anos ou mais , Pré-Albumina , Compostos de Organotecnécio , Amiloidose/diagnóstico por imagem , Coração , Cintilografia , Amiloide , Cardiomiopatias/diagnóstico por imagem
3.
J Neurol ; 271(3): 1204-1212, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37917234

RESUMO

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is an hereditary autosomal recessive disease. Recent studies propose including chronic cough (CC) as a symptom of CANVAS. For 10 patients with CANVAS as genetically confirmed by biallelic expansion of the AAGG repeat motif (AAGGGexp) in intron 2 of replication factor C subunit 1 (RFC1), our aim was, as a multidisciplinary team, to describe clinical and functional characteristics and possible causes of CC following European Respiratory Society (ERS) recommendations, and to evaluate CC impact on quality of life (QoL) using self-administered questionnaires (Cough Severity Diary, Leicester Cough Questionnaire, Discrete Emotions Questionnaire, and EQ-5D-5L). In all 10 patients, the CC was a dry cough that developed several years prior to the neurological symptoms (mean 14.2 years); 7 patients had symptoms compatible with gastroesophageal reflux (GER), 5 with pathological GER diagnosed by 24-h esophageal pH testing, and 6 patients had impaired esophageal motility diagnosed by high-resolution esophageal manometry, most frequently ineffective peristalsis. Although further studies are required for confirmation, we conclude that CC may be a characteristic prodrome of CANVAS and may be related to GER and esophageal disorders. Furthermore, CC affects patients' QoL, especially in the psychosocial sphere.


Assuntos
Vestibulopatia Bilateral , Ataxia Cerebelar , Doenças do Sistema Nervoso Periférico , Doenças Vestibulares , Humanos , Ataxia Cerebelar/diagnóstico , Vestibulopatia Bilateral/complicações , Vestibulopatia Bilateral/diagnóstico , Qualidade de Vida , Doenças Vestibulares/complicações , Doenças Vestibulares/diagnóstico , Tosse/etiologia
4.
J Clin Med ; 12(23)2023 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-38068323

RESUMO

With the aging of the population in developed countries, the number of middle-aged and older women is progressively increasing. During this stage, women suffer from a number of signs and symptoms that could be reduced or treated with physical exercise and dietary supplements. The main objective of this study was to analyse the benefits of exercise and dietary supplements during menopause. MATERIALS AND METHODS: A systematic review of the scientific literature was performed according to the PRISMA 2020 protocol, searching the PubMed, Cochrane, Scopus, and WOS databases. Studies that met the inclusion criteria were assessed for methodological quality using the PEDro or AMSTAR-2 scales. RESULTS: The searches yielded a total of 104 results, of which 10 were selected, with methodological quality ranging from fair to excellent. Each article examined the combination of a dietary supplement plan versus a placebo; plus an exercise routine versus another routine or a sedentary lifestyle. The results showed the benefits of combining a nutritional supplementation plan with an exercise routine during menopause. CONCLUSIONS: The practice of weekly strength and endurance exercises, together with the consumption of certain dietary supplements, may be a good resource for coping with menopause in a healthy way.

5.
Diseases ; 11(4)2023 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-37987274

RESUMO

Prolonged COVID is a persistent condition following the initial COVID-19 infection, which is characterized by a variety of symptoms that may include fatigue, muscle pain, sleep disturbances, "brain fog", respiratory, cardiovascular, digestive, neurological and dermatological symptoms. Physical therapy has been identified as a crucial aspect of the management of patients with long COVID, as it can help improve symptoms and overall physical function. The investigation of long COVID poses significant challenges due to the diversity and variability of symptoms, lack of clear diagnostic criteria, and limited understanding of the underlying mechanisms. The aim of this study is to conduct a systematic review of studies conducted in patients with long COVID in conjunction with interventions targeting respiratory function, particularly involving physical activity. To this end, we conducted a systematic review to analyze studies conducted on treatment programs for long COVID based on some form of physical activity. The protocol of the review was registered in the PROSPERO website, and the databases PubMed, Scopus, CINAHL and WOS were searched. Of the 62 initial articles, six were included in the review. The results obtained have positive implications for the advancement of physical activity as a therapeutic intervention for individuals with long COVID-19 and the conceptualization of evidence-based treatment protocols. Statistically significant results have been observed in studies of at least 6 weeks duration, in which inspiratory muscle training exercises are proposed. Further research is needed to better understand long COVID and develop effective treatment strategies.

6.
Front Plant Sci ; 14: 1268014, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38023922

RESUMO

Climate change is considered a serious threat to agriculture and food security. It is linked to rising temperatures and water shortages, conditions that are expected to worsen in the coming decades. Consequently, the introduction of more drought-tolerant crops is required. Quinoa (Chenopodium quinoa Willd.) has received great attention worldwide due to the nutritional properties of its seeds and its tolerance to abiotic stress. In this work, the agronomic performance and seed nutritional quality of three quinoa varieties were studied during two consecutive years (2019-2020) under three water environmental conditions of Southwestern Europe (irrigated conditions, fresh rainfed, and hard rainfed) with the goal of determining the impact of rainfed conditions on this crop performance. High precipitations were recorded during the 2020 growing season resulting in similar grain yield under irrigation and fresh rainfed conditions. However, in 2019, significant yield differences with penalties under water-limiting conditions were found among the evaluated environmental conditions. Furthermore, nutritional and metabolomic differences were observed among seeds harvested from different water environments including the progressive accumulation of glycine betaine accompanied by an increase in saponin and a decrease in iron with water limitation. Generally, water-limiting environments were associated with increased protein contents and decreased yields preserving a high nutritional quality despite particular changes. Overall, this work contributes to gaining further knowledge about how water availability affects quinoa field performance, as it might impact both seed yield and quality. It also can help reevaluate rainfed agriculture, as water deficit can positively impact the nutritional quality of seeds.

7.
J Clin Med ; 12(20)2023 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-37892831

RESUMO

Arnold Chiari syndrome is a rare congenital disease of unknown prevalence and whose origin is still under study. It is encompassed within the posterior cranial malformations, showing a wide spectrum of symptomatology that can range from severe headache, dizziness, and paresthesia to complete asymptomatology. It is for this reason that early diagnosis of the disease is difficult, and it is usually diagnosed in adolescence. Treatment is based on remodeling and decompression of the malformed posterior cranial fossa, although the risk of residual symptoms after surgery is high. The aim of this review is to update all the existing information on this pathology by means of an exhaustive analysis covering all the scientific literature produced in the last 5 years. In addition, it has been carried out following the PRISMA model and registered in PROSPERO with code CRD42023394490. One of the main conclusions based on the results obtained in this review is that the origin of the syndrome could have a genetic basis and that the treatment of choice is the decompression of the posterior cerebral fossa.

8.
J Matern Fetal Neonatal Med ; 36(2): 2242555, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37580087

RESUMO

OBJECTIVES: We have previously described gestational-age-independent sonographic indices to assess fetal lung size in the right and left lungs: The Quantitative Lung Index for the right lung (QLI-R) and for the left lung (QLI-L), respectively. The purpose of this study was to evaluate the clinical cutoff point of the QLI-R to predict pulmonary hypoplasia and neonatal death. MATERIALS AND METHODS: Retrospective assessment of the QLI-R in patients with left-sided congenital diaphragmatic hernia (CDH-L) and other fetal conditions at risk for fetal pulmonary hypoplasia. Cross-section and longitudinal assessment of the behavior of the QLI-R in untreated and treated patients. ROC curve analysis to determine the optimal cutoff point of the QLI-R in predicting neonatal death. RESULTS: One hundred eighteen patients with CDH-L and other fetal conditions at risk for pulmonary hypoplasia had QLI-R measurements done. Seventeen patients were excluded for various reasons. Eleven patients with conditions other than CDH-L but at risk for pulmonary hypoplasia were used for intraclass coefficient measurements of the QLI-R. Ninety patients had CDH-L, of which 78 did not undergo antenatal intervention and in which the cutoff point for pulmonary hypoplasia and neonatal demise was assessed. Stent tracheal occlusion was performed in the remaining 12 patients with CDH-L, in which the behavior of the QLI after surgery was assessed. Analysis of the ICC showed an overall intra-rater reliability of 0.985 (Cronbach's Alpha-based). There was no correlation between gestational age and QLI-R (-0.73, Pearson correlation, p = .72). Twenty-six of the 78 patients (33%) with CDH-L managed expectantly had a neonatal demise. A QLI-R equal to or less than 0.45 was significantly predictive of neonatal demise (area under the curve 0.64, p = .046, sensitivity 77%). Nine of the 12 patients (75%) that underwent tracheal occlusion had neonatal survival. Of these, 10 had serial assessments of the QLI-R after surgery. An increase in the QLI-R of 0.11 was associated with a tendency for neonatal survival (p = .056). CONCLUSION: Our study confirms that the QLI-R is a gestational-age-independent measurement of fetal lung size, with a high degree of reproducibility. In a population of expectantly managed CDH-L patients, a cutoff value of the QLI-R of 0.45 or lower is predictive of neonatal death from pulmonary hypoplasia. The QLI-R can be used to monitor fetal lung growth after tracheal occlusion, and an increase in the QLI-R is suggestive of neonatal survival. Further prospective studies are needed to confirm these findings and to explore the use of the QLI in other populations at risk for pulmonary hypoplasia and consequent neonatal demise.


Assuntos
Doenças Fetais , Hérnias Diafragmáticas Congênitas , Morte Perinatal , Recém-Nascido , Humanos , Feminino , Gravidez , Reprodutibilidade dos Testes , Estudos Retrospectivos , Diagnóstico Pré-Natal , Pulmão/diagnóstico por imagem , Pulmão/anormalidades , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/cirurgia , Ultrassonografia Pré-Natal
9.
J Pediatr Genet ; 12(3): 254-257, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37575653

RESUMO

Meningioma-1 is a transcription activator that regulates mammalian palate development and is required for appropriate osteoblast proliferation, motility, differentiation, and function. Microdeletions involving the MN1 gene have been linked to syndromes including craniofacial anomalies, such as Toriello-Carey syndrome. Recently, truncating variants in the C-terminal portion of the MN1 transcriptional factor have been linked to a characteristic and distinct phenotype presenting with craniofacial anomalies and partial rhombencephalosynapsis, a rare brain malformation characterized by midline fusion of the cerebellar hemispheres with partial or complete loss of the cerebellar vermis. It has been called MN1 C-terminal truncation (MCTT) syndrome or CEBALID (Craniofacial defects, dysmorphic Ears, Brain Abnormalities, Language delay, and Intellectual Disability) and suggested to be caused by dominantly acting truncated protein MN1 instead of haploinsufficiency. As a proto-oncogene, MN1 is also involved in familial meningioma. In this study, we present a novel case of MCTT syndrome in a female patient presenting with craniofacial anomalies and rhombencephalosynapsis, harboring a de novo pathogenic variant in the MN1 gene: c.3686_3698del, p.(Met1229Argfs*87).

10.
Enferm. infecc. microbiol. clín. (Ed. impr.) ; 41(6): 356-359, Jun-Jul. 2023. graf
Artigo em Inglês | IBECS | ID: ibc-221432

RESUMO

Background: The incidence of Campylobacter coli has increased and with greater resistance to antibiotics than Campylobacter jejuni. Objectives: To determine the epidemiology distribution of Campylobacter spp. in our health area, and the sensitivity to commonly tested antibiotics. Methods: Retrospective descriptive study of cases of campylobacteriosis (2016–2020) recovered from stool cultures as laboratory routine protocol. Sensitivity was tested following EUCAST recommendations. Results: Of 1319 campylobacteriosis (C. jejuni 87.7%, C. coli 12.3%) we found a decrease in C. jejuni cases in 2019, and an increase in C. coli. Statistically significant differences were seen in age and gender distribution. The resistance percentages have generally decreased, with higher percentages of resistance in C. coli than in C. jejuni, being significant for erythromycin. Conclusions: There is not an increase of C. jejuni and its resistance but there is a not alarming increase of incidence of C. coli and its resistance in our health area.(AU)


Introducción: La incidencia de Campylobacter coli ha aumentado y con mayor resistencia a los antibióticos que Campylobacter jejuni. Objetivos: Determinar la distribución epidemiológica de Campylobacter spp. en nuestra área de salud y la sensibilidad a los antibióticos comúnmente probados. Métodos: Estudio descriptivo retrospectivo de casos de campilobacteriosis (2016-2020) recuperados de coprocultivos con el protocolo de rutina del laboratorio. La sensibilidad se probó siguiendo las recomendaciones de EUCAST. Resultados: De 1.319 campilobacteriosis (C. jejuni 87,7%, C. coli 12,3%) se encontró una disminución en los casos de C. jejuni en 2019, y un aumento en C. coli. Se observaron diferencias estadísticamente significativas en la distribución de edad y género. Los porcentajes de resistencia han disminuido en general, con porcentajes más altos de resistencia en C. coli que en C. jejuni, siendo significativos para la eritromicina. Conclusiones: No hay un aumento de C. jejuni ni de su resistencia, pero sí un aumento no alarmante de la incidencia de C. coli y su resistencia en nuestra área de salud.(AU)


Assuntos
Humanos , Campylobacter , Epidemiologia , Resistência Microbiana a Medicamentos , Infecções por Campylobacter , Eritromicina , Epidemiologia Descritiva , Estudos Retrospectivos , Espanha , Microbiologia , Técnicas Microbiológicas , Incidência
11.
Mar Pollut Bull ; 192: 115005, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37167665

RESUMO

This study shows, for the first time, how the natural biodegradation of the Phaeophyceae Rugulopteryx okamurae (R.o.) affects its methane yield, by biochemical methane potential assays, and the methane production kinetics. Additionally, a mechanical (zeolite-assisted milling) and a thermal (120 °C, 45 min) pretreatments were assessed. The highest methane yield was obtained from the mechanically pretreated fresh ashore biomass (219 (15) NLCH4 kgVS-1), which presents the use of zeolite during milling as an economical alternative for heavy metal toxicity reduction. Moreover, no significant differences were observed between the other tests (with the exception of the lowest value obtained for the mechanically pretreated fresh R.o.). Low methane yields were linked to the heavy metal content. However, an increase of 28.5 % and 20.0 % in the k value was found for the untreated fresh R.o. biomass and fresh ashore biomass, respectively, when subjected to thermal pretreatment. Finally, an enhancement of 80.5 % in the maximum methane production rate was obtained for the fresh ashore biomass milled with zeolite compared to the untreated fresh ashore biomass.


Assuntos
Metais Pesados , Zeolitas , Anaerobiose , Biomassa , Metano/metabolismo , Biocombustíveis
13.
Neuromuscul Disord ; 33(4): 319-323, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36893608

RESUMO

Nemaline myopathy (NEM) type 10, caused by biallelic mutations in LMOD3, is a severe congenital myopathy clinically characterized by generalized hypotonia and muscle weakness, respiratory insufficiency, joint contractures, and bulbar weakness. Here, we describe a family with two adult patients presenting mild nemaline myopathy due to a novel homozygous missense variant in LMOD3. Both patients presented mild delayed motor milestones, frequent falls during infancy, prominent facial weakness and mild muscle weakness in the four limbs. Muscle biopsy showed mild myopathic changes and small nemaline bodies in a few fibers. A neuromuscular gene panel revealed a homozygous missense variant in LMOD3 that co-segregated with the disease in the family (NM_198271.4: c.1030C>T; p.Arg344Trp). The patients described here provide evidence of the phenotype-genotype correlation, suggesting that non-truncating variants in LMOD3 lead to milder phenotypes of NEM type 10.


Assuntos
Miopatias da Nemalina , Humanos , Miopatias da Nemalina/genética , Miopatias da Nemalina/patologia , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Mutação de Sentido Incorreto , Debilidade Muscular/genética , Debilidade Muscular/patologia , Fenótipo , Mutação
14.
Diagnostics (Basel) ; 13(3)2023 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-36766608

RESUMO

BACKGROUND: Uterine myomas may resemble uterine sarcomas in some cases. However, the rate of benign myomas appearing as sarcomas at an ultrasound examination is not known. The objective of this study is to determine the percentage of benign myomas that appear suspicious for uterine sarcoma on ultrasound examination. This is a prospective observational multicenter study (June 2019-December 2021) comprising a consecutive series of patients with histologically proven uterine myoma after hysterectomy or myomectomy who underwent transvaginal and/or transabdominal ultrasound prior to surgery. All ultrasound examinations were performed by expert examiners. MUSA criteria were used to describe the lesions (1). Suspicion of sarcoma was established when three or more sonographic features, described by Ludovisi et al. as "frequently seen in uterine sarcoma", were present (2). These features are no visible myometrium, irregular cystic areas, non-uniform echogenicity, irregular contour, "cooked" appearance, and a Doppler color score of 3-4. In addition, the examiners had to classify the lesion as suspicious based on her/his impression, independent of the number of features present. Eight hundred and ten women were included. The median maximum diameter of the myomas was 58.7 mm (range: 10.0-263.0 mm). Three hundred and forty-nine (43.1%) of the patients had more than one myoma. Using the criterion of >3 suspicious features, 40 (4.9%) of the myomas had suspicious appearance. By subjective impression, the examiners considered 40 (4.9%) cases suspicious. The cases were not exactly the same. We conclude that approximately 5% of benign uterine myomas may exhibit sonographic suspicion of sarcoma. Although it is a small percentage, it is not negligible.

16.
Artigo em Inglês | MEDLINE | ID: mdl-36707286

RESUMO

BACKGROUND: The incidence of Campylobacter coli has increased and with greater resistance to antibiotics than Campylobacter jejuni. OBJECTIVES: To determine the epidemiology distribution of Campylobacter spp. in our health area, and the sensitivity to commonly tested antibiotics. METHODS: Retrospective descriptive study of cases of campylobacteriosis (2016-2020) recovered from stool cultures as laboratory routine protocol. Sensitivity was tested following EUCAST recommendations. RESULTS: Of 1319 campylobacteriosis (C. jejuni 87.7%, C. coli 12.3%) we found a decrease in C. jejuni cases in 2019, and an increase in C. coli. Statistically significant differences were seen in age and gender distribution. The resistance percentages have generally decreased, with higher percentages of resistance in C. coli than in C. jejuni, being significant for erythromycin. CONCLUSIONS: There is not an increase of C. jejuni and its resistance but there is a not alarming increase of incidence of C. coli and its resistance in our health area.


Assuntos
Infecções por Campylobacter , Campylobacter jejuni , Gastroenterite , Humanos , Infecções por Campylobacter/epidemiologia , Espanha/epidemiologia , Centros de Atenção Terciária , Estudos Retrospectivos , Farmacorresistência Bacteriana , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico
17.
Neuropediatrics ; 54(1): 31-36, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36126956

RESUMO

Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. However, the phenotype is not yet well-defined because less than 50 cases have been described to date. Here, we report three new patients from two unrelated Spanish families who, in addition to the defined features of Alazami syndrome, also exhibit unique features that broaden the phenotypic spectrum of the syndrome. Moreover, we describe the novel frameshift variant c.690_699delins27 in the LARP7 gene, in which loss of function is a known mechanism of Alazami syndrome.


Assuntos
Deficiência Intelectual , Microcefalia , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Fenótipo , Microcefalia/genética , Mutação da Fase de Leitura , Síndrome , Ribonucleoproteínas/genética
18.
Sci Total Environ ; 856(Pt 1): 158914, 2023 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-36155046

RESUMO

The invasive alien seaweed Rugulopteryx okamurae (R.o.) has spread quickly through the Mediterranean Sea causing an unprecedented ecological impact. A solution integrated into a circular economy model is needed in order to curb the negative effects of its presence. Anaerobic digestion (AD) is proposed as a feasible process able to transform biomass into renewable energy. Nevertheless, in order to improve the methane yield and surpass the drawbacks associated with AD processes, this research proposes a thermal pretreatment and a new developed method where the macroalgae is mechanically pretreated with zeolite. Chemical and microstructure characterization of the algal biomass after pretreatments involved scanning electron microscopy (SEM), X-ray powder diffraction (XRD) and Fourier-transform infrared spectroscopy (FTIR). The highest methane yields of 240 (28) and 250 (20) NLCH4 kg-1 VSadded were obtained with the new mechanical pretreatment and the thermal pretreatment at 120 °C for 45 min without zeolite, achieving a 35 % improvement against the non-pretreated algae. A direct relationship between the crystallinity index of the samples and methane production was observed. The experimental data of methane production versus time were found to be in accordance with both first-order kinetic and Transference Function mathematical models.


Assuntos
Alga Marinha , Zeolitas , Biomassa , Espécies Introduzidas , Anaerobiose , Metano , Biocombustíveis
19.
J Med Genet ; 60(6): 615-619, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36535754

RESUMO

BACKGROUND: Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to carry deep intronic variants, structural variants or splicing alterations not detected through multiplex ligation-dependent probe amplification or exome sequencing. METHODS: RNA was extracted from seven muscle biopsy samples of patients with genetically undiagnosed DMD/BMD after routine genetic diagnosis. RT-PCR of the DMD gene was performed to detect the presence of alternative transcripts. Droplet digital PCR and whole-genome sequencing were also performed in some patients. RESULTS: We identified an alteration in the mRNA level in all the patients. We detected three pseudoexons in DMD caused by deep intronic variants, two of them not previously reported. We also identified a chromosomal rearrangement between Xp21.2 and 8p22. Furthermore, we detected three exon skipping events with unclear pathogenicity. CONCLUSION: These findings indicate that mRNA analysis of the DMD gene is a valuable tool to reach a precise genetic diagnosis in patients with a clinical and anatomopathological suspicion of dystrophinopathy that remain genetically undiagnosed after routine genetic testing.


Assuntos
Distrofia Muscular de Duchenne , Humanos , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Distrofina/genética , RNA Mensageiro/genética , Mutação , Reação em Cadeia da Polimerase Multiplex
20.
Rev. esp. podol ; 34(2): 82-89, 2023. tab
Artigo em Espanhol | IBECS | ID: ibc-229375

RESUMO

Objetivos: El objetivo de este trabajo es comparar las características articulares de los pies de pacientes con ciática, con las de los pies de personas sin esta patología. Pacientes y métodos: Se trata de un estudio descriptivo transversal. Se incluyeron 20 pacientes con ciática y 20 pacientes sin esta patología emparejados por edad y sexo. Se cuantificó el dolor del pie mediante la Numeric Pain Rating Scale 11 y se midió la movilidad de las articulaciones del tobillo, subastragalina, antepié, primer radio y primer dedo. Se clasificó el tipo de pie mediante el Foot Posture Index, y se cuantificó la discapacidad relacionada con el dolor del pie mediante el cuestionario Manchester Foot Pain and Disability Index. Se compararon estas variables entre los dos grupos de participantes (con ciática y sin ciática). Resultados: Se observó un menor rango de movimiento de pronación subastragalina, así como mayor dolor en el pie y mayor discapacidad relacionada con el dolor en el pie, en los participantes con ciática en comparación con los del grupo control. La extensión del hallux también fue significativamente menor en los sujetos con ciática, aunque solo en el pie izquierdo. Además, la fuerza muscular en estos pacientes fue menor que en los que no tenían ciática. Los participantes de ambos grupos presentaron valores de flexión dorsal del tobillo por debajo de la normalidad. Conclusiones: Los participantes con ciática presentaron ciertas diferencias articulares y musculares con respecto al grupo control, aunque no se puede establecer una relación causa-efecto debido al diseño del estudio (AU)


Objectives: The objective of this work is to compare the joint characteristics of the feet of patients with sciatica, with those of people without this pathology. Patients and methods: This is a cross-sectional descriptive study. Twenty patients with sciatica and 20 patients without this pathology were included. Foot pain was quantified using the Numeric Pain Rating Scale 11, and mobility of the ankle, subtalar, forefoot, first ray, and hallux joints were measured. Foot type was classified using the Foot Posture Index, and disability related to foot pain was quantified using the Manchester Foot Pain and Disability Index questionnaire. These variables were compared between the two groups (participants with and without sciatica). Results: Less subtalar pronation range of motion, as well as greater foot pain and greater foot pain-related disability, were observed in participants with sciatica compared with those in the control group. Hallux dorsalflexion was also significantly less in subjects with sciatica, although only in the left foot. Muscle strength in these patients was lower than in those without sciatica. Participants in both groups presented values of ankle dorsiflexion below normal.Conclusions: The participants with sciatica presented certain joint and muscle differences with respect to the control group, although a cause-effect relationship cannot be established due to the study design (AU)


Assuntos
Humanos , Ciática/fisiopatologia , Pé/fisiopatologia , Estudos de Casos e Controles
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