[Translated article] A systematic review of the literature: The use of metaphyseal sleeves in revision total knee arthroplasty.

BACKGROUND AND OBJECTIVES: The purpose of this study is to analyse the indications, complications, survivorship and clinical/functional outcome of metaphyseal sleeves as a treatment option in revision total knee arthroplasty. MATERIAL AND METHOD: A systematic review was made following the PRISMA recommendations on the use of metaphyseal sleeves for revision total knee arthroplasty. We included prospective and retrospective studies published in the last 10 years looking at implant survivorship, clinical and functional outcome with a minimum follow-up of 2 years. RESULTS: The included studies showed good both functional and clinical outcomes. The overall reoperation rate was 16.2%, with an overall survival rate of 92.2% and aseptic survivorship of 98.2%. CONCLUSIONS: Metaphyseal sleeves are a good treatment option for this surgery, especially in AORI II or III type bone defects, achieving good intraoperative and primary stability of the implant, with good and rapid osseointegration.

[Translated article] Efficacy of platelet-rich plasma in rotator cuff repair: Systematic review and meta-analysis.

OBJECTIVE: To analyse the efficacy and safety after the application of platelet-rich-plasma (PRP) as an adjuvant in arthroscopic rotator cuff repairs. MATERIAL AND METHODS: A bibliographic search of the literature of prospective studies with level of evidence one or two was carried out from January 2004 to December 2021, including studies that compare the functional and re-tear results after arthroscopic cuff repair rotator with or without PRP. RESULTS: A total of 281 articles were identified, of which 14 met the inclusion criteria. The overall re-rupture rate was 24%. In the PRP group, a decrease in the re-rupture rate and better functional results were demonstrated, although these differences were not significant. CONCLUSIONS: Adjuvant treatment with PRP has shown promising results, although there is not yet enough evidence to provide a clear advantage for routine use in clinical practice.

ACTH impairs the migratory and secretory profile of mononuclear cells during proestrus in cattle.

The aim was to evaluate the effect of ACTH on the mechanisms involved in peripheral blood mononuclear cells (PBMCs) infiltration into the ovary during dairy cattle proestrus. Regarding this, proper expression pattern of adhesion molecules must take place both in PBMCs and in endothelial cells. Argentinian Holstein cows (n = 12) were treated with 100 IU of ACTH every 12 h for 4 days before ovulation when ovariectomy was performed (day 18). Blood samples were taken on day 15 (0 h) and immediately before (72 h) and after (74 h) the last ACTH administration. In PBMCs, flow cytometry was performed to analyze CD44, CD11b and CD62-L expression along with gene expression of chemokines' receptors. Interleukin (IL)-4 and tumor necrosis factor-α (TNF-α) production was analyzed by flow cytometry after exposing PBMCs to autologous follicular fluid. In ovarian blood vessels, expression of the vascular endothelium cell adhesion-1 (VCAM-1) and the platelet endothelial cell adhesion molecule-1 was evaluated by immunohistochemistry. In T-lymphocytes, the expression of CD44 and CD11b was lower at 72 h in ACTH-treated cows (P < 0.05). In monocytes, the expression of CD11b and CD62-L was lower at 72 h in ACTH-treated cows (P < 0.05). Also, the percentage of IL-4+ cells was higher in ACTH-treated cows, meanwhile, the percentage TNF-α+ cells was lower in ACTH-treated cows (P < 0.05). Finally, in the vessels associated with the preovulatory follicle VCAM-1 immunoexpression was lower in ACTH-treated cows (P < 0.05). Here, we present novel insights into the effect of stress during the preovulatory period on the inflammatory pathway necessary for ovulation.

A systematic review of the literature: The use of metaphyseal sleeves in revision total knee arthroplasty. / Una revisión sistemática de la literatura: el uso de vainas metafisarias en cirugía de revisión de artroplastia de rodilla.

BACKGROUND AND OBJECTIVES: The purpose of this study is to analyze the indications, complications, survivorship and clinical/functional outcome of metaphyseal sleeves as a treatment option in revision total knee arthroplasty. MATERIAL AND METHOD: A systematic review was made following the PRISMA recommendations on the use of metaphyseal sleeves for revision total knee arthroplasty. We included prospective and retrospective studies published in the last 10 years looking at implant survivorship, clinical and functional outcome with a minimum follow-up of 2 years. RESULTS: The included studies showed good both functional and clinical outcomes. The overall reoperation rate was 16.2%, with an overall survival rate of 92.2% and aseptic survivorship of 98.2%. CONCLUSIONS: Metaphyseal sleeves are a good treatment option for this surgery, especially in AORI II or III type bone defects, achieving good intraoperative and primary stability of the implant, with good and rapid osseointegration.

Efficacy of platelet-rich plasma in rotator cuff repair: systematic review and meta-analysis. / Eficacia del plasma rico en plaquetas en la reparación del manguito rotador: revisión sistemática y metaanálisis.

OBJECTIVE: To analyze the efficacy and safety after the application of platelet-rich-plasma (PRP) as an adjuvant in arthroscopic rotator cuff repairs. MATERIAL AND METHODS: A bibliographic search of the literature of prospective studies with level of evidence one or two was carried out from January 2004 to December 2021, including studies that compare the functional and re-tear results after arthroscopic cuff repair rotator with or without PRP. RESULTS: A total of 281 articles were identified, of which 14 met the inclusion criteria. The overall re-rupture rate was 24%. In the PRP group, a decrease in the re-rupture rate and better functional results were demonstrated, although these differences were not significant. CONCLUSIONS: Adjuvant treatment with PRP has shown promising results, although there is not yet enough evidence to provide a clear advantage for routine use in clinical practice.

Randomized Trial to Test a Chemo-Mechanical Antiplaque Regimen as Adjunct to Periodontal Therapy.

BACKGROUND: The control of dental biofilm regrowth after nonsurgical periodontal therapy is associated with better clinical outcomes. However, many patients have difficulty achieving optimal plaque control. Subjects with diabetes, in which immune and wound-healing responses are typically impaired, may benefit from intensive antiplaque control regimens after scaling and root planing (SRP). OBJECTIVES: This study aimed to evaluate the effects of an intensive, at-home, chemical, and mechanical antiplaque regimen as an adjunct to SRP for the treatment of moderate to severe periodontitis. A secondary objective was to compare responses in subjects with type 2 diabetes and nondiabetics. METHODS: This was a 6-mo, single-center, parallel-group, randomized trial. The test group received SRP and oral hygiene instructions, and subjects were instructed to use a 0.12% chlorhexidine gluconate mouthrinse twice a day for 3 mo and utilize rubber interproximal bristle cleaners twice a day for 6 mo. The control group received SRP and oral hygiene instructions. The main outcome was change in mean probing depth (PD) from baseline to 6 mo. Secondary outcomes included change in sites with deep PDs, mean clinical attachment level, bleeding on probing, plaque index, hemoglobin A1C, fasting blood glucose, C-reactive protein, and taste assessment. This study was registered at ClinicalTrials.gov as NCT04830969. RESULTS: In total, 114 subjects were randomized to either treatment. Eighty-six subjects completed the trial with no missing visits. Neither an intention-to-treat nor a per-protocol analysis showed statistically significant differences between treatment groups in mean PD at 6 mo. In a subgroup analysis, subjects with diabetes in the test group showed a statistically significant greater reduction in mean PD at 6 mo when compared to subjects with diabetes receiving the control treatment (Δ = 0.15, P = 0.04), while there were no differences within nondiabetics (Δ = 0.02, P = 0.75). CONCLUSION: Outcomes in subjects with diabetes may be improved by chemo-mechanical antiplaque measures after nonsurgical periodontal therapy. KNOWLEDGE TRANSFER STATEMENT: This study suggests diabetic subjects may benefit from an intensive, at-home, chemical, and mechanical antiplaque regimen to improve nonsurgical periodontal therapy outcomes.

A novel time-saving multiplex PCR assay for detecting and discriminating the most common canine Babesia species in Europe.

In Europe, most cases of canine babesiosis are caused by Babesia canis, Babesia vogeli (large piroplasms) and Babesia vulpes (small piroplasm). Molecular diagnosis is recommended due to its high sensitivity. Species identification after sequencing allows applying a rapid and efficient treatment, leading to a better prognosis; however, it is expensive and time-consuming. Thus, the objective of the present study was to develop a time-saving multiplex polymerase chain reaction (PCR) for simultaneously detecting and discriminating between large and small forms without sequence analysis. A new multiplex PCR was designed and tested using blood samples from 79 dogs showing clinical signs compatible with babesiosis which were previously analysed using blood smears and molecular methods. Multiplex PCR successfully discriminated between both Babesia groups showing bands of 700 and 890 bp for B. canis/B. vogeli and B. vulpes, respectively. No significant differences in the results of both PCR were detected and a substantial agreement between protocols (κ = 0.64) was found. Our multiplex PCR represents a reliable tool for detecting infections by the major Babesia spp. in dogs from Europe. Since no sequence analysis is required for identifying the species involved, this PCR allows the rapid administration of an appropriate treatment, thus improving the survival rate of the infected animals. In addition, it will represent a helpful tool for unravelling the real prevalence and distribution of B. vulpes and its implication in clinical cases.

Collegiate baseball pitchers demonstrate a relationship between ball velocity and elbow varus torque, both within and across pitchers.

High elbow varus torque during baseball pitching has been identified as a potential cause of ulnar collateral ligament injury in baseball pitchers. In general, elbow varus torque increases as ball velocity increases across pitchers. However, studies incorporating within-subject analyses report that not all professional pitchers have a positive relationship between elbow varus torque and ball velocity (T-V relationship). It remains unknown whether collegiate pitchers show the same trend as professionals in their T-V relationships. The current study investigated the T-V relationship of collegiate pitchers focusing on both across and within pitchers. Division 1 collegiate pitchers (n = 81) were assessed for elbow torque and ball velocity during pitching. Both across- and within-pitcher T-V relationships were significant (p < 0.05) using linear regression. However, more variance in elbow varus torque was explained using the within-pitcher relationship (R2 = 0.29) than the across-pitcher relationship (R2 = 0.05). Of the 81 pitchers, nearly half (n = 39) had significant T-V relationships, while the other half (n = 42) did not. Our findings indicate that the T-V relationship should be assessed on an individual basis as T-V is pitcher-specific.

Machine Learning to Optimize the Echocardiographic Follow-Up of Aortic Stenosis.

BACKGROUND: Disease progression in patients with mild-to-moderate aortic stenosis is heterogenous and requires periodic echocardiographic examinations to evaluate severity. OBJECTIVES: This study sought to explore the use of machine learning to optimize aortic stenosis echocardiographic surveillance automatically. METHODS: The study investigators trained, validated, and externally applied a machine learning model to predict whether a patient with mild-to-moderate aortic stenosis will develop severe valvular disease at 1, 2, or 3 years. Demographic and echocardiographic patient data to develop the model were obtained from a tertiary hospital consisting of 4,633 echocardiograms from 1,638 consecutive patients. The external cohort was obtained from an independent tertiary hospital, consisting of 4,531 echocardiograms from 1,533 patients. Echocardiographic surveillance timing results were compared with the European and American guidelines echocardiographic follow-up recommendations. RESULTS: In internal validation, the model discriminated severe from nonsevere aortic stenosis development with an area under the receiver-operating characteristic curve (AUC-ROC) of 0.90, 0.92, and 0.92 for the 1-, 2-, or 3-year interval, respectively. In external application, the model showed an AUC-ROC of 0.85, 0.85, and 0.85, for the 1-, 2-, or 3-year interval. A simulated application of the model in the external validation cohort resulted in savings of 49% and 13% of unnecessary echocardiographic examinations per year compared with European and American guideline recommendations, respectively. CONCLUSIONS: Machine learning provides real-time, automated, personalized timing of next echocardiographic follow-up examination for patients with mild-to-moderate aortic stenosis. Compared with European and American guidelines, the model reduces the number of patient examinations.

Tick-borne pathogens in ticks from urban and suburban areas of north-western Spain: Importance of Ixodes frontalis harbouring zoonotic pathogens.

To identify the questing tick populations in urban and suburban areas from the city of Lugo (NW Spain), ticks were collected monthly by flagging. The presence of Borrelia spp., Rickettsia spp. and Anaplasma phagocytophilum also was determined by polymerase chain reaction (PCR) and sequence analysis. Overall, 342 questing ticks were collected; the tick abundance was higher in suburban (95.9%) than in urban areas (4.1%). Ixodes frontalis was the most abundant (86.5%); 88.5% were larvae, 11.1% nymphs and 0.3% adults. All development stages of I. ricinus (7.3%) and adults of Rhipicephalus sanguineus sensu lato (5.8%) and Dermacentor reticulatus (0.3%) were found. Rickettsia spp. (31.9%) was more prevalent than Borrelia spp. (2.7%); no ticks were positive to A. phagocytophilum. Six Rickettsia species were identified (R. slovaca, R. monacensis, R. massiliae, R. raoultii, R. sibirica subsp. mongolitimonae and R. aeschielmanii); Candidatus Rickettsia rioja and two novel Rickettsia species also were detected. In addition, Borrelia turdi (1.8%) and B. valaisiana (0.9%) were identified in Ixodes ticks. This is the first report of R. slovaca in R. sanguineus s.l. and of R. monacensis, R. raoultii, R. slovaca, R. sibirica subsp. mongolitimonae and Ca. R. rioja in I. frontalis. Since most of the pathogens detected are zoonotic, their presence in these areas may have implications for public health.

Oftalmomiasis orbitaria por Dermatobia hominis en un paciente inmunosuprimido en un área andina ecuatoriana / Orbital ophthalmomiasis due to Dermatobia hominis in an immunosuppressed patient from the ecuadorian andean area

Varón ecuatoriano de 83 años, indigente, con antecedente de desnutrición y alcoholismo crónico, acude por un cuadro clínico caracterizado por crecimiento progresivo de larvas a nivel ocular izquierdo (OI), asociado a áreas de putrefacción de tejidos oculares. Al ingreso, su visión en ojo derecho (OD) fue de movimiento de manos y el OI indicaba no percepción de luz, el segmento anterior de OD evidenció una catarata brunescente, sin otra alteración, mientras que el OI presentó edema, eritema bipalpebral y abundante cantidad de larvas móviles distribuidas en toda la órbita, asociado a áreas de necrosis, putrefacción y distorsión de la anatomía de los tejidos oculares. La tomografía de órbita mostró un compromiso importante de la órbita, indicándose manejo quirúrgico mediante exenteración orbitaria izquierda con identificación taxonómica de las larvas como Dermatobia hominis, asociado a ello, se implementó tratamiento antibiótico y realización de un colgajo fasciocutáneo frontal por el Departamento de Cirugía Plástica (AU)

An 83-year-old Ecuadorian male, indigent with a history of malnutrition and chronic alcoholism, presented with a clinical feature characterized by progressive growth of larvae at the left eye level (LE), associated with areas of ocular tissue putrefaction. Upon admission, his vision in the right eye (RE) was of hand movement and no light perception in LE, the anterior segment of the RE showed a brunescent cataract, with no other alteration, while the LE presented edema, bipalpebral erythema and an abundant number of mobile larvae distributed throughout the orbit, associated with areas of necrosis, putrefaction and distortion of the anatomy of the ocular tissues. Orbital tomography showed a significant compromise of the orbit, indicating surgical management by left orbital exenteration with taxonomic identification of the larvae as Dermatobia Hominis associated with it, antibiotic treatment was implemented and a frontal fasciocutaneous flap was performed by the plastic surgery department (AU)

Orbital ophthalmomiasis due to Dermatobia hominis in an immunosuppressed patient from the ecuadorian andean area.

An 83-year-old Ecuadorian male, indigent with a history of malnutrition and chronic alcoholism, presented with a clinical feature characterized by progressive growth of larvae at the left eye level (LE), associated with areas of ocular tissue putrefaction. Upon admission, his vision in the right eye (RE) was of hand movement and no light perception in LE, the anterior segment of the RE showed a brunescent cataract, with no other alteration, while the LE presented edema, bipalpebral erythema and an abundant number of mobile larvae distributed throughout the orbit, associated with areas of necrosis, putrefaction and distortion of the anatomy of the ocular tissues. Orbital tomography showed a significant compromise of the orbit, indicating surgical management by left orbital exenteration with taxonomic identification of the larvae as Dermatobia hominis associated with it, antibiotic treatment was implemented and a frontal fasciocutaneous flap was performed by the plastic surgery department.

Exogenous ACTH stimulus during the preovulatory period alters patterns of leukocyte recruitment in the ovary of dairy cows.

Before ovulation, the ovary exhibits signs of local inflammation. However, the effects of adrenocorticotropin (ACTH) on the complexity of this inflammatory response are not yet well described. Thus, the aim of this study was to evaluate the effects of ACTH administered to dairy cows during the preovulatory period on the local distribution of different subsets of leukocytes infiltrated in the ovary, along with the gene expression of relevant chemokines (C-C motif chemokine ligand-2 (CCL2), C-X-C motif chemokine ligand-8 (CXCL8), CCL25 and CXCL1) involved in leukocyte chemotaxis and blood perfusion on the follicular wall of dominant follicles. Also, the direct effect of ACTH on chemokine gene expression was addressed in cultured antral follicular walls. For this purpose, both an in vivo and an in vitro experiment were performed. For the in vivo experiment, exogenous ACTH (100 IU) was administered intramuscularly to Holstein cows (n = 12) during proestrus every 12 h for four days before ovulation, when ovariectomy was performed (day 18). Daily ovarian Doppler ultrasonography was used to evaluate the percentage of irrigated area, the pulsatility index and the resistance index in the dominant follicles. The distribution of monocytes-macrophages (CD14), T- (CD2) and B-lymphocytes (CD79a) and granulocytes (CH138A) in the ovary was analyzed by immunohistochemistry. In follicular wall samples, gene expression of CCL2, CXCL8, CXCL1 and CCL25 was evaluated, whereas IL-17A expression was analyzed by Western blot. The total number of CD14, CD79a and CD2 infiltrated cells was lower in the ACTH-treated group than in the control group (p < 0.05). Chemokine gene expression showed lower mRNA of CCL2, CCL25 and CXCL1 (p < 0.05) in the ACTH-treated group. Meanwhile, IL-17A protein expression and hemodynamic parameters were similar between groups (p > 0.05). In the in vitro assay, antral follicular walls were stimulated with ACTH to corroborate the gene expression profile of chemokines. mRNA expression of CCL2 tended to be lower in the stimulated follicular walls (p = 0.092). Our results suggest that exogenous ACTH stimulus during the preovulatory period reduces the number of infiltrated leukocytes in the bovine ovary and this could be due to a lower chemotaxis capacity of the ovary.

Specificity of Stenurus (Metastrongyloidea: Pseudaliidae) infections in odontocetes stranded along the north-west Spanish coast.

Parasites extracted from the lungs and the pterygoid sinus complex of 6 species of odontocetes stranded along the north-west Spanish coast (Northeast Atlantic) between 2009 and 2019 were morphologically identified. The samples belonged to 14 specimens, including 3 harbour porpoises, Phocoena phocoena, 6 short-finned pilot whales, Globicephala macrorhynchus, 1 long-finned pilot whale, Globicephala melas, 1 Risso's dolphin, Grampus griseus, 1 striped dolphin, Stenella coeruleoalba and 2 bottlenose dolphins, Tursiops truncatus. All animals (14/14) were infected by nematodes of the genus Stenurus spp.; moreover, two of them presented a mixed lung nematode infection by Stenurus spp. and Halocercus spp., and another two a mixed infection by Stenurus spp. and the trematode Nasitrema spp. in the pterygoid sinuses. The morphological characterization of the Stenurus specimens revealed the existence of three different species: Stenurus minor, present in the pterygoid sinuses of harbour porpoises with a mean intensity of 43.0 ± 9.0; Stenurus globicephalae, in the pterygoid sinuses of pilot whales and the Risso's dolphin (370.3 ± 579.4); and Stenurus ovatus infecting bottlenose and striped dolphins' lungs (47.7 ± 76.5). This is the first citation of S. minor and S. ovatus in odontoceti from the Galician coast. Nematodes of the genus Stenurus are frequent in odontocetes stranded along the north-west Spanish coast. A clear host-parasite association was observed between S. minor and the Phocoenidae family, between S. globicephalae and the subfamily Globicephalinae and between S. ovatus and subfamily Delphininae. Different trophic position and niche segregation may lead to different patterns of specificity.

Reabsorción radicular apical externatras la ortodoncia: Factores clínicos ydiagnósticos y análisis de redes de genesrelacionados / External apical root resorption after orthodontic treatment: clinical and diagnostic factors and analysis of related gene networks

Introducción: La reabsorción radicular apical externa (EARR) provocada por las fuerzas ortodóncicas representa uno de los efectos iatrogénicos más indeseables del tratamiento. Se pretende establecer una relación entre las variables diagnósticas y clínicas del tratamiento con la aparición y severidad de la reabsorción radicular apical externa agresiva (aEARR). Adicionalmente, la red de interrelaciones genéticas sirve para la generación de hipótesis en la correlación de variaciones genéticas, previamente asociadas con aEARR, con otras enfermedades. Métodos: Se realizó un estudio de asociación mediante una selección de 240 pacientes clasificados en dos grupos, basándose en la presencia o ausencia de a EARR. Se realizó un análisis descriptivo y una regresión logística binaria condicional tipo backward entre las variables y el desarrollo de aEARR. Se seleccionaron 5 variantes (STAG2, RP1-30E17.2, P2RX7, SPP1 y TNFRSF11A) asociadas a una mayor predisposición al desarrollo de aEARR y se realizó un análisis de redes. Resultados: Exclusivamente la variable tiempo de tratamiento obtuvo resultados estadísticamente significativos (IC: 95%; p=0,007) en relación con la aEARR. En el análisis de redes se encontró relación de 4 variantes genéticas con diferentes etapas del proceso patológico de la EARR que se relacionaron con 6 patologías: artritis, osteoartrosis, enfermedad autoinmune, lupus eritematoso, hepatitis C y EARR. Conclusiones: El único factor que se asoció con una mayor prevalencia de aEARR es el tiempo de duración del tratamiento. Cualquier vía que pueda tener relación con el proceso inflamatorio y, por tanto, con el proceso reabsortivo, puede tener una implicación mayor/menor de manera directa o indirecta en el desarrollo de la EARR (AU)

Introduction: External apical root resorption (EARR) caused by orthodontic forces represents one of the most undesirable iatrogenic effects of treatment. The aim of this study is to establish a relation between the diagnostic and clinical variables of treatment with the appearance and severity of aggressive external apical root resorption (aEARR). Additionally, the network of genetic interrelationships offers the generation of hypotheses in the correlation of genetic variations, previously associated with aEARR, with other diseases. Methods: An association study was performed using a selection of 240 patients classified into two groups based on the presence or absence of aEARR. A descriptive analysis of the data along with a backward conditional binary logistic regression was performed between the variables and aEARR. Five variants (STAG2, RP1-30E17.2, P2RX7, SPP1 and TNFRSF11A) associated with an increased predisposition to aEARR were selected and network analysis was performed. Results: Only the treatment time variable obtained statistically significant results (CI: 95%; p=0.007) in relation to aEARR. In the network analysis, 4 genetic variants were found to be related to different stages of the pathological process of aEARR, which were associated with 6 pathologies: arthritis, osteoarthrosis, autoimmune disease, lupus erythematosus, hepatitis C and EARR. Conclusions: The only factor associated with a higher prevalence of aEARR is the treatment duration. Any pathway that may be related to the inflammatory process and therefore to the resorptive process may have a greater/lesser involvement directly or indirectly in the development of aEARR (AU)

[Late onset Pompe disease: an analysis of 19 patients from Mexico]. / Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos.

INTRODUCTION: Pompe disease (PD) is a rare metabolic myopathy with an ample and heterogeneous clinical spectrum, particularly late onset PD (LOPD), which is characterized by appearance at older age and slower disease progression, leading to diagnostic confirmation difficulty and delay. AIM: To describe the genotype and clinical characteristics of Mexican patients with LOPD. MATERIAL AND METHODS: Clinical information from 19 Mexican patients with LOPD confirmed with enzyme activity and GAA gene analysis was reviewed. Genetic information of our population was crossed with international genetic databases. RESULTS: Median age between onset of symptoms and diagnosis was 19 years (range 2-43) and diagnostic confirmation 36 years (range 9-52). Most frequently referred symptoms were proximal axial weakness (n = 17; 89.5%), waddling gait (n = 17; 89.5%) and hyperlordosis (n = 7; 36.8%). Sixteen patients (84.2%) were evaluated with electromyography; a myopathic pattern was reported in 11 (57.8%), but only in 5 patients (26%) paraspinal muscle evaluation was included. The most pathogenic mutations in our group were c.-32-13T>G, c.1799G>A and c.1082C>T. CONCLUSIONS: Similar to other international publications, LOPD in Mexico is clinically heterogeneous; patients may delay years before diagnosis is established. Axial and proximal weakness is the most frequent clinical feature; thus, electromyography with paraspinal muscle evaluation is essential. Except for one, the mutations found in our patients have been previously reported in PD genetic databases.

TITLE: Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos.Introducción. La enfermedad de Pompe es una miopatía metabólica rara con espectro clínico heterogéneo, especialmente la de inicio tardío, cuya sintomatología es de progresión más lenta y representa un gran reto diagnóstico. Objetivo. Describir el genotipo y las características clínicas de pacientes mexicanos con Pompe de inicio tardío (LOPD). Material y métodos. Se incluyó a 19 pacientes mexicanos con LOPD confirmada mediante actividad enzimática y estudio molecular del gen GAA. Se evaluaron datos clínicos y se revisaron las mutaciones en bases de datos genómicas. Resultados. La mediana de edad de inicio de los síntomas fue de 19 años (rango: 2-43 años), y la edad de diagnóstico, de 36 años (rango: 9-52 años). Los síntomas más frecuentes fueron debilidad axial y proximal (n = 17; 89,5%), marcha basculante (n = 17; 89,5%) e hiperlordosis (n = 7; 36,8%). A 16 pacientes (84,2%) se les realizó electromiografía; 11 (57,8%) describieron patrón miopático y sólo en cinco pacientes (26%) se incluyó la valoración de los músculos paraespinales. Las variantes patogénicas más frecuentes en nuestra casuística fueron c.-32-13T>G, c.1799G>A y c.1082C>T. Conclusiones. Parecido a lo comunicado en publicaciones internacionales, la LOPD en México es clínicamente heterogénea; los pacientes pueden tardar años en llegar al diagnóstico. La debilidad muscular axial y proximal es el dato clínico más frecuente, por lo que la electromiografía debe incluir valoración de los músculos paraespinales. A excepción de una, las mutaciones encontradas en nuestra serie de casos se encuentran previamente descritas en las bases de datos de enfermedad de Pompe.

Outcome Analysis in Elective Electrical Cardioversion of Atrial Fibrillation Patients: Development and Validation of a Machine Learning Prognostic Model.

Background: The integrated approach to electrical cardioversion (EC) in atrial fibrillation (AF) is complex; candidates can resolve spontaneously while waiting for EC, and post-cardioversion recurrence is high. Thus, it is especially interesting to avoid the programming of EC in patients who would restore sinus rhythm (SR) spontaneously or present early recurrence. We have analyzed the whole elective EC of the AF process using machine-learning (ML) in order to enable a more realistic and detailed simulation of the patient flow for decision making purposes. Methods: The dataset consisted of electronic health records (EHRs) from 429 consecutive AF patients referred for EC. For analysis of the patient outcome, we considered five pathways according to restoring and maintaining SR: (i) spontaneous SR restoration, (ii) pharmacologic-cardioversion, (iii) direct-current cardioversion, (iv) 6-month AF recurrence, and (v) 6-month rhythm control. We applied ML classifiers for predicting outcomes at each pathway and compared them with the CHA2DS2-VASc and HATCH scores. Results: With the exception of pathway (iii), all ML models achieved improvements in comparison with CHA2DS2-VASc or HATCH scores (p < 0.01). Compared to the most competitive score, the area under the ROC curve (AUC-ROC) was: 0.80 vs. 0.66 for predicting (i); 0.71 vs. 0.55 for (ii); 0.64 vs. 0.52 for (iv); and 0.66 vs. 0.51 for (v). For a threshold considered optimal, the empirical net reclassification index was: +7.8%, +47.2%, +28.2%, and +34.3% in favor of our ML models for predicting outcomes for pathways (i), (ii), (iv), and (v), respectively. As an example tool of generalizability of ML models, we deployed our algorithms in an open-source calculator, where the model would personalize predictions. Conclusions: An ML model improves the accuracy of restoring and maintaining SR predictions over current discriminators. The proposed approach enables a detailed simulation of the patient flow through personalized predictions.

Tuning the magnetic anisotropy energy by external electric fields of CoPt dimers deposited on graphene.

In the framework of first-principles calculations, we comprehensively investigate the external electric-field (EF) manipulation of the magnetic anisotropy energy (MAE) of alloyed CoPt dimers deposited on graphene. In particular, we focus on the possibility of tuning the MAE barriers under the action of external EFs and on the effects of Co-substitution. Among the various considered structures, the lowest-energy configurations were the hollow-upright and top-upright, having the Co-atom closest to the graphene layer. The optimal and higher energy configurations were related to the electronic structure through the local density of states and hybridizations between the transition-metal (TM) atoms of the dimer and graphene. In contrast to Co2/graphene [M. Tanveer, J. Dorantes-Dávila and G. M. Pastor, Phys. Rev. B, 2017, 96(22), 224413.], the CoPt dimer having the hollow-upright ground-state configuration, exhibits a much lower value of the MAE (about |ΔE| ≃ 4.5 meV per atom) and the direction of the magnetization lies in the graphene layer. Moreover, we observe a spin-reorientation transition occurring at εz ≃ 0.5 V Å-1, which opens the possibility of inducing magnetization switching by external electric fields. The microscopic origin of the changes of the MAE associated with changes in the EF has been qualitatively related to the details of the electronic structure by analyzing the local density of states and to the spin-dependent electronic densities close to the Fermi energy. Finally, the role of local environment was quantified by performing electronic structure and magnetic calculations on several higher-energy structure configurations.

A review on inflammation and angiogenesis as key mechanisms involved in the pathogenesis of bovine cystic ovarian disease.

Cystic ovarian disease (COD) is an important cause of reproductive failure in dairy cattle. The main aim of this review is to discuss some aspects related to inflammation and angiogenesis that seem to be involved in the development of follicular cysts in domestic animals, with special emphasis on the bovine species, in an attempt to elucidate the relationship between these two processes in the early stages of persistence and in the development of bovine COD. We describe the changes in the expression of cytokines and angiogenic factors that seem to generate disturbances in the intraovarian component underlying the aberrant persistence of follicular cysts. Results show that pro-inflammatory and anti-inflammatory cytokines behave as regulators of angiogenesis through direct and indirect effects, like overexpression of pro-angiogenic factors, particularly in bovine ovarian cells from follicular cysts and persistent follicles. We conclude that, in dairy cattle, an imbalance in the expression of cytokines and pro-angiogenic growth factors related to ovulation and the processes associated with it would contribute to follicular persistence and to the recurrent appearance of COD.