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RESEARCH QUESTION: Can an artificial intelligence embryo selection assistant predict the incidence of first-trimester spontaneous abortion using static images of IVF embryos? DESIGN: In a blind, retrospective study, a cohort of 172 blastocysts from IVF cases with single embryo transfer and a positive biochemical pregnancy test was ranked retrospectively by the artificial intelligence morphometric algorithm ERICA. Making use of static embryo images from a light microscope, each blastocyst was assigned to one of four possible groups (optimal, good, fair or poor), and linear regression was used to correlate the results with the presence or absence of a normal fetal heart beat as an indicator of ongoing pregnancy or spontaneous abortion, respectively. Additional analyses included modelling for recipient age and chromosomal status established by preimplantation genetic testing for aneuploidy (PGT-A). RESULTS: Embryos classified as optimal/good had a lower incidence of spontaneous abortion (16.1%) compared with embryos classified as fair/poor (25%; ORâ¯=â¯0.46, Pâ¯=â¯0.005). The incidence of spontaneous abortion in chromosomally normal embryos (determined by PGT-A) was 13.3% for optimal/good embryos and 20.0% for fair/poor embryos, although the difference was not significant (Pâ¯=â¯0.531). There was a significant association between embryo rank and recipient age (Pâ¯=â¯0.018), in that the incidence of spontaneous abortion was unexpectedly lower in older recipients (21.3% for age ≤35 years, 17.9% for age 36-38 years, 16.4% for age ≥39 years; ORâ¯=â¯0.354, Pâ¯=â¯0.0181). Overall, these results support correlation between risk of spontaneous abortion and embryo rank as determined by artificial intelligence; classification accuracy was calculated to be 67.4%. CONCLUSIONS: This preliminary study suggests that artificial intelligence (ERICA), which was designed as a ranking system to assist with embryo transfer decisions and ploidy prediction, may also be useful to provide information for couples on the risk of spontaneous abortion. Future work will include a larger sample size and karyotyping of miscarried pregnancy tissue.
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Aborto Espontâneo , Inteligência Artificial , Primeiro Trimestre da Gravidez , Humanos , Feminino , Gravidez , Aborto Espontâneo/epidemiologia , Estudos Retrospectivos , Adulto , Fertilização in vitro , Diagnóstico Pré-Implantação/métodos , Transferência de Embrião Único/métodos , Blastocisto , Transferência Embrionária/métodosRESUMO
Flavodoxins are enzymes that contain the redox-active flavin mononucleotide (FMN) cofactor and play a crucial role in numerous biological processes, including energy conversion and electron transfer. Since the redox characteristics of flavodoxins are significantly impacted by the molecular environment of the FMN cofactor, the evaluation of the interplay between the redox properties of the flavin cofactor and its molecular surroundings in flavoproteins is a critical area of investigation for both fundamental research and technological advancements, as the electrochemical tuning of flavoproteins is necessary for optimal interaction with redox acceptor or donor molecules. In order to facilitate the rational design of biomolecular devices, it is imperative to have access to computational tools that can accurately predict the redox potential of both natural and artificial flavoproteins. In this study, we have investigated the feasibility of using non-equilibrium thermodynamic integration protocols to reliably predict the redox potential of flavodoxins. Using as a test set the wild-type flavodoxin from Clostridium Beijerinckii and eight experimentally characterized single-point mutants, we have computed their redox potential. Our results show that 75% (6 out of 8) of the calculated reaction free energies are within 1 kcal/mol of the experimental values, and none exceed an error of 2 kcal/mol, confirming that non-equilibrium thermodynamic integration is a trustworthy tool for the quantitative estimation of the redox potential of this biologically and technologically significant class of enzymes.
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Clostridium beijerinckii , Flavodoxina , Termodinâmica , Flavoproteínas , Transporte de ElétronsRESUMO
In porcine in vitro production (IVP) systems, the use of oocytes derived from prepubertal gilts, whilst being commercially attractive, remains challenging due to their poor developmental competence following in vitro maturation (IVM). Follicular fluid contains important growth factors and plays a key role during oocyte maturation; therefore, it is a common supplementation for porcine IVM medium. However, follicular fluid contains many poorly characterized components, is batch variable, and its use raises biosecurity concerns. In an effort to design a defined IVM system, growth factors such as cytokines have been previously tested. These include leukaemia inhibitory factor (LIF), fibroblast growth factor 2 (FGF2), and insulin-like growth factor 1 (IGF1), the combination of which is termed 'FLI'. Here, using abattoir-derived oocytes in a well established porcine IVP system, we compared follicular fluid and FLI supplementation during both IVM and embryo culture to test the hypothesis that FLI can substitute for follicular fluid without compromising oocyte nuclear and cytoplasmic maturation. We demonstrate that in oocytes derived from prepubertal gilts, FLI supplementation enhances oocyte meiotic maturation and has a positive effect on the quality and developmental competence of embryos. Moreover, for the first time, we studied the effects of follicular fluid and FLI combined showing no synergistic effects.
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Fator 2 de Crescimento de Fibroblastos , Fator de Crescimento Insulin-Like I , Suínos , Animais , Feminino , Fator 2 de Crescimento de Fibroblastos/farmacologia , Fator 2 de Crescimento de Fibroblastos/metabolismo , Fator Inibidor de Leucemia/farmacologia , Fator Inibidor de Leucemia/metabolismo , Fator de Crescimento Insulin-Like I/farmacologia , Oócitos , Sus scrofa , Suplementos Nutricionais , Técnicas de Maturação in Vitro de Oócitos , Fertilização in vitroRESUMO
PURPOSE: To examine the live birth and other outcomes reported with and without preimplantation genetic testing for aneuploidy (PGT-A) in the United Kingdom (UK) Human Embryology and Fertilization Authority (HFEA) data collection. METHODS: A retrospective cohort analysis was conducted following freedom of information (FoI) requests to the HFEA for the PGT-A and non-PGT-A cycle outcomes for 2016-2018. Statistical analysis of differences between PGT-A and non-PGT-A cycles was performed. Other than grouping by maternal age, no further confounders were controlled for; fresh and frozen transfers were included. RESULTS: Outcomes collected between 2016 and 2018 included total number of cycles, cycles with no embryo transfer, total number of embryos transferred, live birth rate (LBR) per embryo transferred and live birth rate per treatment cycle. Data was available for 2464 PGT-A out of a total 190,010 cycles. LBR per embryo transferred and LBR per treatment cycle (including cycles with no transfer) were significantly higher for all PGT-A vs non-PGT-A age groups (including under 35), with nearly all single embryo transfers (SET) after PGT-A (significantly more in non-PGT-A) and a reduced number of transfers per live birth particularly for cycles with maternal age over 40 years. CONCLUSION: The retrospective study provides strong evidence for the benefits of PGT-A in terms of live births per embryo transferred and per cycle started but is limited in terms of matching PGT-A and non-PGT-A cohorts (e.g. in future studies, other confounders could be controlled for). This data challenges the HFEA "red traffic light" guidance that states there is "no evidence that PGT-A is effective or safe" and hence suggests the statement be revisited in the light of this and other new data.
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Fertilização in vitro/estatística & dados numéricos , Fertilização/fisiologia , Adulto , Aneuploidia , Coeficiente de Natalidade , Blastocisto/fisiologia , Feminino , Testes Genéticos/métodos , Humanos , Nascido Vivo , Idade Materna , Gravidez , Taxa de Gravidez , Diagnóstico Pré-Implantação/métodos , Estudos Retrospectivos , Reino UnidoRESUMO
BACKGROUND: Aphasia is a quite common and very disabling symptom following stroke, negatively affecting patient's quality of life. Aim of the study is to evaluate the effectiveness of a rehabilitation training for aphasia that employ a touch-screen tablet using a virtual reality rehabilitation system (VRRS-Tablet). MATERIAL AND METHODS: Thirty patients with aphasia due to ischemic or hemorrhagic stroke were randomized into either the control or the experimental group and assessed by means of a specific neuropsychological evaluation. The study lasted 6 months and included 2 phases. During the former, the experimental group underwent an experimental linguistic treatment performed using the VRRS-Tablet, while the control group was trained with a traditional linguistic treatment. In the latter, the control groups were delivered to territorial services, while the experimental group was provided with the VRRS-Tablet. RESULTS: The experimental group improves in all the investigated areas, except for writing, while the control group only improves in comprehension, depression, and quality of life. CONCLUSIONS: Our study has demonstrated the effectiveness of a home-based telerehabilitation program specific for poststroke aphasia. The use of telerehabilitation by means of VRRS-Tablet could be one of the best solutions to treat aphasic patients after their discharge, promoting continuity of care by monitoring functional outcomes, maintaining preserved abilities, reducing depression, and improving linguistic functions, besides the psychological well-being.
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Afasia/reabilitação , Continuidade da Assistência ao Paciente , Serviços Hospitalares de Assistência Domiciliar , Reabilitação do Acidente Vascular Cerebral/métodos , Acidente Vascular Cerebral/terapia , Telerreabilitação/métodos , Adulto , Afasia/diagnóstico , Afasia/fisiopatologia , Afasia/psicologia , Computadores de Mão , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Alta do Paciente , Projetos Piloto , Qualidade de Vida , Recuperação de Função Fisiológica , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/fisiopatologia , Acidente Vascular Cerebral/psicologia , Reabilitação do Acidente Vascular Cerebral/instrumentação , Telerreabilitação/instrumentação , Resultado do TratamentoRESUMO
AIM OF THE STUDY: Cognitive impairment occurs frequently in post-stroke patients. This study aimed to determine the effects of a virtual reality training (VRT) with BTs-Nirvana (BTsN) on the recovery of cognitive functions in stroke patients, using the Interactive-Semi-Immersive Program (I-SIP). MATERIALS AND METHODS: We enrolled 12 subjects (randomly divided into two groups: experimental group (EG); and control group (CG)), who attended the Laboratory of Robotic and Cognitive Rehabilitation of IRCCS Neurolesi of Messina from January to June 2016. The EG underwent a VRT with BTsN, whereas CG received a standard cognitive treatment. Both the groups underwent the same conventional physiotherapy program. Each treatment session lasted 45 minutes and was repeated three times a week for 8 weeks. All the patients were evaluated by a specific clinical-psychometric battery before (T0), immediately (T1), and one month (T2) after the end of the training. RESULTS: At T1, the EG presented a greater improvement in the trunk control test (p = 0.03), the Montreal Cognitive Assessment (p = 0.01), the selective attention assessment scores (p = 0.01), the verbal memory (p = 0.03), and the visuospatial and constructive abilities (p = 0.01), as compared to CG. Moreover, such amelioration persisted at T2 only in the EG. CONCLUSIONS: According to these preliminary data, VRT with I-SIP can be considered a useful complementary treatment to potentiate functional recovery, with regard to attention, visual-spatial deficits, and motor function in patients affected by stroke.
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Transtornos Cognitivos/etiologia , Transtornos Cognitivos/reabilitação , Recuperação de Função Fisiológica/fisiologia , Reabilitação do Acidente Vascular Cerebral , Acidente Vascular Cerebral/complicações , Terapia de Exposição à Realidade Virtual/métodos , Estimulação Acústica , Adulto , Atenção/fisiologia , Feminino , Humanos , Masculino , Memória/fisiologia , Pessoa de Meia-Idade , Testes Neuropsicológicos , Estimulação Luminosa , Resultado do TratamentoRESUMO
OBJECTIVE: To study and analyze any correlations between positive surgical margins after RARP and biochemical recurrence. METHODS: We enrolled 105 patients who underwent robot-assisted radical prostatectomy (RARP) from 2016-2020 with PSMs on final pathology, all performed or supervised by a senior surgeon in two tertiary referral center. Pathology has been described indicating also the area (apical, base, mediolateral, anterior, or multiple) and the extent of PSMs: focal (≤3 mm) or extensive (>3 mm). Cox univariable and multi-variable regression models were used to find the correlation between clinico-pathologic factors: age, local staging, PSA, grading, area, and size of PSMs). RESULTS: We found a good correlation between PSA and grading and between PSA and local staging (T) (p < 0.001). There was no clear correlation between the PSM area with grading nor with T staging. There is a statistically significant correlation between extensive PSM and the worsening of grading and local staging (p < 0.001). BCR rate also has a strong correlation with the worsening of grading and local staging (T) (p < 0.001). A relevant fact is the difference between the BCR rate in the apical and base PSM (34.88%vs 62.5%; p < 0.001) which are the most frequent locations of PSMs. DISCUSSION: PSMs remain a predictor of BCR but which may have controversial significance. The likelihood of BCR increases as grading or local staging gets worse. However, apical PSM is a relatively less powerful predictor of postoperative BCR. This can help to better select patients for subsequent RT, which still causes important side effects.
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Procedimentos Cirúrgicos Robóticos , Robótica , Masculino , Humanos , Margens de Excisão , Antígeno Prostático Específico , Gradação de Tumores , Prostatectomia/efeitos adversos , Recidiva Local de Neoplasia/patologiaRESUMO
Preimplantation genetic testing for aneuploidy (PGT-A) is widespread, but controversial, in humans and improves pregnancy and live birth rates in cattle. In pigs, it presents a possible solution to improve in vitro embryo production (IVP), however, the incidence and origin of chromosomal errors remains under-explored. To address this, we used single nucleotide polymorphism (SNP)-based PGT-A algorithms in 101 in vivo-derived (IVD) and 64 IVP porcine embryos. More errors were observed in IVP vs. IVD blastocysts (79.7% vs. 13.6% p < 0.001). In IVD embryos, fewer errors were found at blastocyst stage compared to cleavage (4-cell) stage (13.6% vs. 40%, p = 0.056). One androgenetic and two parthenogenetic embryos were also identified. Triploidy was the most common error in IVD embryos (15.8%), but only observed at cleavage, not blastocyst stage, followed by whole chromosome aneuploidy (9.9%). In IVP blastocysts, 32.8% were parthenogenetic, 25.0% (hypo-)triploid, 12.5% aneuploid, and 9.4% haploid. Parthenogenetic blastocysts arose from just three out of ten sows, suggesting a possible donor effect. The high incidence of chromosomal abnormalities in general, but in IVP embryos in particular, suggests an explanation for the low success of porcine IVP. The approaches described provide a means of monitoring technical improvements and suggest future application of PGT-A might improve embryo transfer success.
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Aneuploidia , Fertilização in vitro , Testes Genéticos , Sus scrofa , Sus scrofa/embriologia , Sus scrofa/genética , Sus scrofa/fisiologia , Fertilização in vitro/veterinária , Testes Genéticos/métodos , Desenvolvimento Embrionário , Blastocisto/fisiologia , Embrião de Mamíferos/fisiologia , Transferência Embrionária/veterinária , Polimorfismo de Nucleotídeo Único , Algoritmos , Animais , Cromossomos de Mamíferos/genéticaRESUMO
Introduction: The objective of this study is to compare the safety and efficacy, through the stone-free rate (SFR), as well as the costs, between retrograde intrarenal surgery (RIRS) and percutaneous nephrolithotomy (PCNL), for 2-4 cm kidney stones. Material and methods: We analysed the data relating to RIRS and PCNL performed in 3 reference centres for kidney stones, in the period between 1/2019 and 12/2021. The total number of procedures was 130 (63 RIRS and 67 PCNL). We defined SFR as the absence of lithiasic fragments or stones <3 mm. Results were compared between 2 groups depending on the stone size: 2-3 cm stones (group 1) and >3 cm stones (group 2). Results: The duration of RIRS was 90 minutes for group 1 and 115 minutes for group 2, and for PCNL it was 135 minutes for group 1 and 145 minutes for group 2. RIRS had shorter duration with a significant difference in group 1 (p = 0.000014). SFR for RIRS was 78% for group 1 and 21% for group 2, and for PCNL it was 92% for group 1 and 81% for group 2. Therefore, there is a statistically significant difference, which is more evident for 3 cm and multiple stones (p = 0.0057 for group 1, p = 0.000146 for group 2). The difference in costs was estimated by calculating the expected costs for a single surgical procedure and the estimated cost per day for ordinary hospitalization. Conclusions: 2-4 cm stones can be safely treated with both RIRS and PCNL, but RIRS should not be chosen as an option for stones >3 cm, except in selected cases. PCNL remains the gold standard for the treatment of complex stones, especially for stones >3 cm. Risk of postoperative complications is higher in PCNL, even if this difference is not great. The costs associated with RIRS, even when recalculating with the need for new treatments, remain cheaper.
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Background: In vitro maturation (IVM) of germinal vesicle intact oocytes prior to in vitro fertilization (IVF) is practiced widely in animals. In human assisted reproduction it is generally reserved for fertility preservation or where ovarian stimulation is contraindicated. Standard practice incorporates complex proteins (CP), in the form of serum and/or albumin, into IVM media to mimic the ovarian follicle environment. However, the undefined nature of CP, together with batch variation and ethical concerns regarding their origin, necessitate the development of more defined formulations. A known component of follicular fluid, melatonin, has multifaceted roles including that of a metabolic regulator and antioxidant. In certain circumstances it can enhance oocyte maturation. At this stage in development, the germinal-vesicle intact oocyte is prone to aneuploidy and epigenetic dysregulation. Objectives: To determine the developmental, cytogenetic and epigenetic consequences of removing CP and including melatonin during bovine IVM. Materials and methods: The study comprised a 2 x 2 factorial arrangement comparing (i) the inclusion or exclusion of CP, and (ii) the addition (100 nM) or omission of melatonin, during IVM. Cumulus-oocyte complexes (COCs) were retrieved from stimulated cycles. Following IVM and IVF, putative zygotes were cultured to Day 8 in standard media. RNAseq was performed on isolated cumulus cells, cytogenetic analyses (SNP-based algorithms) on isolated trophectoderm cells, and DNA methylation analysis (reduced representation bisulfite sequencing) on isolated cells of the inner-cell mass. Results: Removal of CP during IVM led to modest reductions in blastocyst development, whilst added melatonin was beneficial in the presence but detrimental in the absence of CP. The composition of IVM media did not affect the nature or incidence of chromosomal abnormalities but cumulus-cell transcript expression indicated altered metabolism (primarily lipid) in COCs. These effects preceded the establishment of distinct metabolic and epigenetic signatures several days later in expanded and hatching blastocysts. Conclusions: These findings highlight the importance of lipid, particularly sterol, metabolism by the COC during IVM. They lay the foundation for future studies that seek to develop chemically defined systems of IVM for the generation of transferrable embryos that are both cytogenetically and epigenetically normal.
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Melatonina , Feminino , Animais , Bovinos , Humanos , Melatonina/farmacologia , Melatonina/metabolismo , Técnicas de Maturação in Vitro de Oócitos , Oócitos/metabolismo , Análise Citogenética , Epigênese Genética , LipídeosRESUMO
The cattle breeding industry, through both of its derivatives (dairy and beef), provides 81% of milk and 22% of meat required globally. If a breeding bull is sub-fertile, this impacts herd conception and birth rates, and it is generally accepted that having a proactive genetic screening programme can prevent further losses. Chromosome translocations are the leading genetic cause of infertility in livestock and, in cattle, this extends beyond the classical 1:29 to other Robertsonian translocations (RobTs) and to reciprocal translocations (RECTs). The incidence of both (collectively termed RTs) varies between breeds and herds; however, we estimate that RECTs are, most likely, at least twice as common as RobTs. The purpose of this study was to develop an industry economic model to estimate the financial impact of an RT event at the herd level. If we assume a conservative incidence rate of 0.4% for Rob1:29 with each one impacting the conception rate by 5%, we calculate that actively screening for and removing a Rob1:29 bull could benefit an impacted herd by GBP 2.3 million (approx. USD 2.8 million) over six years. A recently updated screening protocol developed in our lab for all RTs, however (with a projected combined incidence of 1.2%, impacting conception rates by 10%), could benefit an impacted herd by GBP 7.2 million (nearly USD 9 million) for each RT found. For an industry worth USD 827.4 billion (dairy) and USD 467.7 billion (beef), expanding knowledge on incidence and further dissection of the potential costs (financial and environmental) from RTs is essential to prevent further losses.
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Approximately one million in vitro produced (IVP) cattle embryos are transferred worldwide each year as a way to improve the rates of genetic gain. The most advanced programmes also apply genomic selection at the embryonic stage by SNP genotyping and the calculation of genomic estimated breeding values (GEBVs). However, a high proportion of cattle embryos fail to establish a pregnancy. Here, we demonstrate that further interrogation of the SNP data collected for GEBVs can effectively remove aneuploid embryos from the pool, improving live births per embryo transfer (ET). Using three preimplantation genetic testing for aneuploidy (PGT-A) approaches, we assessed 1713 cattle blastocysts in a blind, retrospective analysis. Our findings indicate aneuploid embryos have a 5.8% chance of establishing a pregnancy and a 5.0% chance of given rise to a live birth. This compares to 59.6% and 46.7% for euploid embryos (p < 0.0001). PGT-A improved overall pregnancy and live birth rates by 7.5% and 5.8%, respectively (p < 0.0001). More detailed analyses revealed donor, chromosome, stage, grade, and sex-specific rates of error. Notably, we discovered a significantly higher incidence of aneuploidy in XY embryos and, as in humans, detected a preponderance of maternal meiosis I errors. Our data strongly support the use of PGT-A in cattle IVP programmes.
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Aneuploidia , Coeficiente de Natalidade/tendências , Testes Genéticos/métodos , Nascido Vivo , Diagnóstico Pré-Implantação/métodos , Animais , Blastocisto/citologia , Blastocisto/metabolismo , Bovinos , Feminino , Fertilização in vitro/métodos , Gravidez , Estudos RetrospectivosRESUMO
The electrochemical oxidation of organics in water was investigated theoretically and experimentally to determine the role of several operative parameters on the performances of the process in the presence and in the absence of sodium chloride. Theoretical considerations were used to design the experimental investigation and were confirmed by the results of the electrochemical oxidation of oxalic acid (OA) at boron doped diamond (BDD) or IrO(2)-Ta(2)O(5) (DSA-O(2)) anodes in a continuous batch recirculation reaction system equipped with a parallel plate undivided electrochemical cell. Polarization curves and chronoamperometric measurements indicated that, in the presence of chlorides, the anodic oxidation of OA is partially replaced by an indirect oxidation process. This result was confirmed by electrolyses experiments that show that, in the presence of suitable amount of chlorides, oxidation of OA takes place mainly by a homogeneous process. Interestingly, a very different influence of the nature of the anodic material, the flow rate and the current density on the performances of the process arises in the absence and in the presence of chlorides so that optimization of the two processes requires very different operative conditions. In the absence of chlorides, high current efficiency (CE) is obtained at BDD when most part of the process is under charge transfer controlled kinetics, i.e. when low current densities and high flow rates are imposed. On the other hand, in the presence of NaCl, higher CE are generally obtained at DSA anode when high current densities and low flow rates are imposed, i.e. when a high concentration of chemical oxidants is obtained as a result of the chloride oxidation. The effect of other operative parameters such as the OA concentration and the pH were further investigated.
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Técnicas Eletroquímicas , Compostos Orgânicos/química , Cloreto de Sódio/química , Água/química , Boro/química , Cloro/química , Diamante/química , Condutividade Elétrica , Eletrólise , Concentração de Íons de Hidrogênio , Incineração , Ácido Oxálico/química , Oxirredução , Reologia , SoluçõesRESUMO
Post-stroke cognitive disorders can affect different domains, depending on typology of stroke and lesion localization, onset time, age and diagnostic tools used. In recent years, telerehabilitation using virtual reality has been used to reduce the healthcare costs encouraging continuity of care. The aim of our study is to evaluate the efficacy of a virtual reality rehabilitation system in improving cognitive function in stroke survivors. Forty patients affected by stroke were enrolled in this study and randomized into either the control or the experimental groups in order of recruitment. The study lasted 6 months, and included two phases: (1) during the first phase the experimental group underwent cognitive rehabilitation training using the Virtual Reality Rehabilitation System-Evo, whereas the control group was submitted to standard cognitive training; (2) in the second phase (after discharge), the experimental group was treated by means of virtual reality rehabilitation system Home Tablet (three sessions a week, each session lasting about 50 minutes), and the control group continued the traditional training, with the same amount of treatment. The patients underwent a neuropsychological evaluation before and at the end of the treatment. Linear mixed-effects analysis results showed that the scores of Montreal overall cognitive assessment, attentive matrices, Trail Making Test B, Phonemic Fluency, Semantic Fluency, Rey Auditory Verbal Learning Test I, Hamilton Rating Scale-Anxiety and Hamilton Rating Scale-Depression were affected by the type of the rehabilitative treatment. Our data show the effectiveness of telerehabilitation for the treatment of cognitive disorders following stroke.
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Transtornos Cognitivos/reabilitação , Continuidade da Assistência ao Paciente/organização & administração , Reabilitação do Acidente Vascular Cerebral/métodos , Telerreabilitação/métodos , Adulto , Idoso , Atenção , Cognição , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Sobreviventes , Resultado do Tratamento , Interface Usuário-ComputadorRESUMO
In cattle breeding, the development of genomic selection strategies based on single nucleotide polymorphism (SNP) interrogation has led to improved rates of genetic gain. Additionally, the application of genomic selection to in-vitro produced (IVP) embryos is expected to bring further benefits thanks to the ability to test a greater number of individuals before establishing a pregnancy and to ensure only carriers of desirable traits are born. However, aneuploidy, a leading cause of developmental arrest, is known to be common in IVP embryos. Karyomapping is a comprehensive screening test based on SNP typing that can be used for simultaneous genomic selection and aneuploidy detection, offering the potential to maximize pregnancy rates. Moreover, Karyomapping can be used to characterize the frequency and parental origin of aneuploidy in bovine IVP embryos, which have remained underexplored to date. Here, we report the use of Karyomapping to characterize the frequency and parental origin of aneuploidy in IVP bovine embryos in order to establish an estimate of total aneuploidy rates in each parental germline. We report an estimate of genome wide recombination rate in cattle and demonstrate, for the first time, a proof of principle for the application of Karyomapping to cattle breeding, with the birth of five calves after screening. This combined genomic selection and aneuploidy screening approach was highly reliable, with calves showing 98% concordance with their respective embryo biopsies for SNP typing and 100% concordance with their respective biopsies for aneuploidy screening. This approach has the potential to simultaneously improve pregnancy rates following embryo transfer and the rate of genetic gain in cattle breeding, and is applicable to basic research to investigate meiosis and aneuploidy.
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Aneuploidia , Blastocisto/fisiologia , Bovinos/embriologia , Mapeamento Cromossômico/veterinária , Cariotipagem/veterinária , Diagnóstico Pré-Implantação/veterinária , Animais , Bovinos/genética , Mapeamento Cromossômico/métodos , Transferência Embrionária/veterinária , Embrião de Mamíferos , Feminino , Fertilização in vitro/veterinária , Cariotipagem/métodos , Nascido Vivo , Polimorfismo de Nucleotídeo Único , Gravidez , Diagnóstico Pré-Implantação/métodosRESUMO
INTRODUCTION: Elderly care is a worldwide social and economic challenge for the public health system, and it requires the development of new management strategies. Telemedicine provides an innovative approach towards elderly care, especially for those with chronic diseases. In this study, we aimed to evaluate the potential role of a multidisciplinary telemedicine approach for improving elderly quality of life. METHODS: Twenty-two participants received weekly vital parameter monitoring and nutritional counselling, biweekly psychological counselling and a monthly consultation with a neurologist. The neuropsychological assessment included the Mini Mental State Examination, the Activities of Daily Living, the Instrumental Activities of Daily Living, the Geriatric Depression Scale and the Short-Form Health Survey, and was administered at enrolment (T0) and at the end of the study (T3). The nutritional evaluation included haematochemical examinations of glycaemia, total cholesterol, and triglycerides at baseline (T0) and every four months (T1, T2, T3). RESULTS: Significant differences in Activities of Daily Living, Geriatric Depression Scale and all domains of the Short-Form Health Survey were observed between baseline and the end of the study. The haematochemical parameters showed obvious changes over time, especially in cholesterol values, and the patients with hypercholesterolaemia and hypertriglyceridaemia showed a reduction in body mass index. Moreover, we found that the haematochemical values were moderately correlated with the Activities of Daily Living, Geriatric Depression Scale and Short-Form Health Survey scores. CONCLUSION: Telemedicine can be a suitable tool for caring for elderly people more efficiently by promoting the remission of depressive symptoms and improving social functioning, cognitive levels and nutritional habits to prevent vascular diseases and exacerbations of pre-existing chronic illness.
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Nível de Saúde , Comunicação Interdisciplinar , Saúde Mental , Qualidade de Vida , Telemedicina/organização & administração , Atividades Cotidianas , Idoso , Idoso de 80 Anos ou mais , Índice de Massa Corporal , Doença Crônica , Aconselhamento/organização & administração , Depressão/epidemiologia , Feminino , Avaliação Geriátrica/métodos , Testes Hematológicos , Humanos , Lipídeos/sangue , Masculino , Testes de Estado Mental e Demência , SicíliaRESUMO
Parkinson disease (PD) is the second most common neurodegenerative disease which affects population older than 65 years. Tremor represents one of the main symptomatic triads in PD, particularly in rest state.We enrolled 41 idiopathic PD patients, to validate the assessment of tremor symptoms.To be enrolled in the study, patients had to fulfill the movement disorder society clinical diagnostic criteria for PD.We used an innovative home-made, low-cost device, able to quantify the frequency and amplitude of rest tremor and stress conditionOur results confirmed the presence of tremor during muscular effort in a significant number of patients and the influence of emotional stress.We suppose that this new device should be validated in clinical practice as a support of differential diagnosis and therapeutic management of PD patients.
Assuntos
Técnicas Biossensoriais/instrumentação , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Tremor/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Técnicas Biossensoriais/métodos , Estudos de Coortes , Intervalos de Confiança , Desenho de Equipamento , Estudos de Avaliação como Assunto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/tratamento farmacológico , Estudos Retrospectivos , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Tremor/etiologiaRESUMO
The mouse sex chromosomes exhibit an extraordinary level of copy number amplification of postmeiotically expressed genes [1, 2], driven by an "arms race" (genomic conflict) between the X and Y chromosomes over the control of offspring sex ratio. The sex-linked ampliconic transcriptional regulators Slx and Sly [3-7] have opposing effects on global transcription levels of the sex chromosomes in haploid spermatids via regulation of postmeiotic sex chromatin (PMSC) [8-11] and opposing effects on offspring sex ratio. Partial deletions of the Y chromosome (Yq) that reduce Sly copy number lead to global overexpression of sex-linked genes in spermatids and either a distorted sex ratio in favor of females (smaller deletions) or sterility (larger deletions) [12-16]. Despite a large body of work studying the role of the sex chromosomes in regulating spermatogenesis (recent reviews [17-20]), most studies do not address differential fertility effects on X- and Y-bearing cells. Hence, in this study, we concentrate on identifying physiological differences between X- and Y-bearing sperm from Yq-deleted males that affect their relative fertilizing ability and consequently lead to sex ratio skewing. We show that X- and Y-bearing sperm in these males have differential motility and morphology but are equally able to penetrate the cumulus and fertilize the egg once at the site of fertilization. The altered motility is thus deduced to be the proximate cause of the skew. This represents the first demonstration of a specific difference in sperm function associated with sex ratio skewing.
Assuntos
Evolução Biológica , Cromossomos Sexuais/fisiologia , Motilidade dos Espermatozoides , Espermatozoides/fisiologia , Cromossomo Y/genética , Animais , Masculino , Camundongos , Razão de MasculinidadeRESUMO
BACKGROUND: Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by a variable and asymmetric involvement of facial, trunk, upper and lower extremity muscles. Although respiratory weakness is a relatively unknown feature of FSHD, it is not rare. Telemedicine has been used in a variety of health care fields, but only recently, with the advent of sophisticated technology, its interest among health professionals became evident, even in such diseases. OBJECTIVE: To demonstrate the telemedicine efficacy in FSHD. METHODS: Four siblings affected by a severe form of FSHD, living in a rural area far away from the referral center for neuromuscular diseases, who used a wheelchair, suffered from chronic respiratory failure and were provided with long-term non-invasive mechanical ventilation, received a 6-month period of telemedicine support. This consisted of video conferencing (respiratory physiotherapy, psychological support, neurological and pneumological assessment, nurse-coach supervision) and telemonitoring of cardiorespiratory variables (oxygen saturation, blood pressure, and heart rate). RESULTS: We performed 540 video conference sessions per patient, including three daily contacts with short monitoring oximetry measurements, blood pressure, and heart-rate measurements, psychological support, neurological and pneumological assessment, nurse-coach supervision. CONCLUSIONS: Our findings indicate that our telemedicine system was user-friendly, efficient for the home treatment of FSHD, and allowed reducing hospital admissions.
Assuntos
Pessoas com Deficiência , Serviços de Assistência Domiciliar , Hospitalização , Distrofia Muscular Facioescapuloumeral/terapia , Qualidade de Vida , Telemedicina/métodos , Atividades Cotidianas , Pressão Sanguínea , Sistema Cardiovascular , Frequência Cardíaca , Hospitalização/estatística & dados numéricos , Humanos , Monitorização Fisiológica , Distrofia Muscular Facioescapuloumeral/patologia , Distrofia Muscular Facioescapuloumeral/fisiopatologia , Oxigênio/metabolismo , Insuficiência Respiratória/etiologia , Sistema Respiratório , População RuralRESUMO
The amygdala plays a key role in gathering social cues to context-appropriate responses that require refined motor behavior, involving either direct or indirect connections with sensorimotor-related areas. Although, several studies investigated the structural and functional limbic connectivity of the amygdala both in animals and in humans, less is known about the limbic modulation on sensorimotor-related areas. However, recent evidences suggest the amygdala as a possible cornerstone in the limbic-motor interface. Herein, we used high-resolution diffusion data of the Massachusetts General Hospital-University of Southern California (MGH-USC) Adult Diffusion Dataset, constrained spherical deconvolution-based signal modeling and probabilistic tractography aimed at identifying and reconstructing the connectivity patterns linking the amygdala to the limbic- and sensorimotor-related areas. As regards the limbic network, our results showed that the amygdala has high probability to be connected with the fusiform gyrus and the lateral orbitofrontal cortex. On the other hand, our connectomic analysis revealed a close interplay between the amygdala and the inferior parietal lobule, followed by the postcentral gyrus, the precentral gyrus and the paracentral lobule. The findings of the present study are in line with previous literature and reinforce the idea of the existence of a limbic-motor interface, which is likely to be involved in the emotional modulation of complex functions such as spatial perception and movement computation. Considering that these pathways may play an important role, not on in physiological conditions, but also in pathological context, further studies should be fostered in order to confirm the existence of a limbic-motor interface and its precise functional meaning.