Wolfram Syndrome 1 in Two Brothers Treated with Insulin Pump.

Background/Objective: Wolfram syndrome (WS) is a rare genetic disorder, in which patients develop early-onset diabetes mellitus (DM), optic nerve atrophy, and neurodegeneration, which has no specific treatment available. Here, we report 2 brothers treated with an insulin pump to manage the alterations of the glycemic levels due to the DM. Case Report: We present the case of 2 siblings diagnosed with Wolfram syndrome 1, they presented with typical endocrinological and neurodegenerative early manifestations, one brother was treated with a sensor-augmented insulin infusion system, and the other with an insulin pump. Both reached a better metabolic state and had improved quality of life. Discussion: The management of WS is still a challenge; however, the use of a sensor-augmented insulin infusion system and the information that it provides may offer better care to patients who require frequent monitoring and adjustments in their treatment. It has been reported that the neurodegenerative progression of WS is also associated with high glucose peaks; therefore, it is necessary to control it, even when it is hard due to the difficult-to-manage DM. There is only 1 previous case report of WS with insulin pump that describes the benefits of continuous subcutaneous insulin infusion and tight metabolic control during pregnancy. Conclusion: The use of insulin pumps may be an effective treatment for DM in WS patients, mainly in terms of improving the prognosis of difficult-to-manage DM.

Computing Integrated Information (Φ) in Discrete Dynamical Systems with Multi-Valued Elements.

Integrated information theory (IIT) provides a mathematical framework to characterize the cause-effect structure of a physical system and its amount of integrated information (Φ). An accompanying Python software package ("PyPhi") was recently introduced to implement this framework for the causal analysis of discrete dynamical systems of binary elements. Here, we present an update to PyPhi that extends its applicability to systems constituted of discrete, but multi-valued elements. This allows us to analyze and compare general causal properties of random networks made up of binary, ternary, quaternary, and mixed nodes. Moreover, we apply the developed tools for causal analysis to a simple non-binary regulatory network model (p53-Mdm2) and discuss commonly used binarization methods in light of their capacity to preserve the causal structure of the original system with multi-valued elements.

Cognitive and behavioral profile of Perry syndrome in two families.

OBJECTIVE: Perry syndrome (PS) is a rare neurodegenerative disorder with autosomal dominant inheritance caused by point mutations in DCTN1 and characterized by parkinsonism, hypoventilation, weight loss, and psychiatric symptoms. Even though behavioral manifestation is a main feature of PS, detailed neuropsychological assessment was not performed in this cohort. In this study, the neuropsychological profile of individuals from one Polish and one Colombian family are presented. METHODS: Detailed clinical and neuropsychological data were obtained from Polish and Colombian families. Clinical and neuropsychological examinations on the proband from the Polish family were performed 6 times over 11 years. Each of 3 individuals from the Colombian family received a clinical and neuropsychological assessment. RESULTS: The neurologic examination showed severe parkinsonism, levodopa-induced motor fluctuations, and dyskinesias in all cases. Respiratory insufficiency was observed in 2 patients and weight loss in 1 individual. Neuropsychological assessment revealed predominant deterioration of working memory and learning capacity in the Polish patient. He also demonstrated compulsive behaviors, such as excessive shopping and eating, but only in the "on" phase. In the Colombian family, attentional deficits were present in 2 out of 3 cases. Out of 4 reported cases apathy and depressed mood were present in 2 individuals. Two cases demonstrated impulsivity and one had episodes of hypomania. CONCLUSIONS: Both of these families revealed relatively similar neurologic and neuropsychological profiles. The Polish patient's behavioral and neuropsychological profile was mostly compatible with a behavioral variant of frontotemporal dementia. Of note, not only depression and apathy, but also impulsivity can occur in PS.

Computer Imagery and Neurological Rehabilitation: On the Use of Augmented Reality in Sensorimotor Training to Step Up Naturally Occurring Cortical Reorganization in Patients Following Stroke.

This work promotes the use of computer-generated imagery -as visual illusions- to speed up motor learning in rehabilitation. In support of this, we adhere the principles of experience-dependent neuroplasticity and the positive impact of virtual reality (VR) thereof. Specifically, post-stroke patients will undergo motor therapy with a surrogate virtual limb that fakes the paralyzed limb. Along these lines, their motor intentions will match the visual evidence, which fosters physiological, functional and structural changes over time, for recovery of lost function in an injured brain. How we make up such an illusion using computer graphics, is central to this paper.

Comparación de la eficacia y seguridad de la terapia combinada de cardiomioplastia celular con el factor estimulante de colonias de granulocitos en pacientes con cardiopatía isquémica en dos vías de implatación / Comparison of efficacy and safety of combined therapy of cellular cardiomyoplasty and granulocyte colony stimulating factor in patients with ischemic cardiomyopathy in two routes of implantation

Este estudio tiene como objetivo evaluar la eficacia y seguridad de la terapia combinada de cardiomioplastia celular con el factor estimulante de colonias de granulocitos en pacientes con cardiopatía isquémica, y explorar posibles diferencias entre la vía de implantación. METODOLOGÍA: se hizo un estudio de ®antes y después¼ para datos longitudinales en el que se compararon variables ecocardiográficas y número de MET alcanzados en la prueba de esfuerzo antes, dos, seis y doce meses después del procedimiento; así mismo, se evaluaron la mortalidad y los efectos adversos de la terapia. Se exploraron diferencias en los resultados de acuerdo con la vía de implantación intracoronaria vs. epicárdica. RESULTADOS: se incluyeron dieciocho pacientes, 62,3% hombres, cuya edad promedio fue 49,4 ± 11,7 años y la fracción de eyección promedio fue 31% ± 0,04. La implantación se realizó por vía intracoronaria en doce pacientes y por vía epicárdica en seis. La mediana de fracción de eyección antes de la implantación de las células fue de 30% con un rango intercuartil de 28%-35% y la media de los MET fue de 6 con un rango intercuartil de 5-7; ambas variables, al igual que los volúmenes ventriculares de fin de diástole y sístole se incrementaron de forma significativa después del procedimiento, con tendencia a un mayor incremento de la fracción de eyección en el grupo de pacientes cuya vía de implantación fue la epicárdica en comparación con la vía intracoronaria; sin embargo, el número de pacientes en cada subgrupo impidió hacer análisis definitivos. Un paciente tuvo infección de la herida quirúrgica y tres murieron dos meses después de la implantación (uno de shock séptico y dos de shock cardiogénico)...

The objective of this study is to assess efficacy and safety of combined therapy of cellular cardiomyoplasty and granulocyte colony stimulating factor in patients with ischemic cardiomyopathy and explore possible differences between the implantation routes. METHODOLOGY: we performed a before and after study for longitudinal data comparing echocardiographic variables and number of Met achieved in the stress test before and at two, six and twelve months after the procedure. Likewise, mortality and adverse therapy effects were evaluated. Differences in the results were analyzed according to the intracoronary vs. epicardiac route of implantation. RESULTS: eighteen patients were included; 62,3% men, with mean age 49.4 ± 11,7 years. Mean ejection fraction was 31% ± 0,04. In twelve patients implantation was performed by intracoronary route and in six by epicardiac route. Mean ejection fraction before cell implantation was 30% with an interquartil range (IQR) of 28-35%, and MET average was 6 with an interquartil rage of 5-7. Both variables as well as end-systolic and end-diastolic volumes increased significantly after the procedure, with a tendency to greater increase in ejection fraction in the group of patients whose route was epicardial implantation compared with intracoronary route; however, the number of patients in each subgroup prevented to make a definitive analysis. One patient had surgical wound infection and three died two months after implantation (one of septic shock and two of cardiogenic shock). CONCLUSION: in our environment the performance of combination therapy with cellular cardiomyoplasty and granulocyte colony stimulating factor is feasible. This is a safe procedure that achieved a sustained improvement in ejection fraction and MET beyond benefits achieved with revascularization and optimal pharmacological therapy.

Use of hyaluronidase cream to prevent peritoneal adhesions in laparoscopic ventral hernia repair by means of intraperitoneal mesh fixation using spiral tacks.

BACKGROUND: The aim of this study was to investigate the effects of hyaluronidase gel on the prevention of post-operative peritoneal adhesions to prosthetic materials used in laparosopic ventral hernia repair. METHODS: Ten pigs were included in this study. The animals were anesthetized using Na-penthotal for induction and isofluorane for maintenance. The abdomen was opened and, using helical fasteners, four implantations were performed (squares of 4 x 4 cm). Two of the implants, placed in an upper location, were in polypropylene mesh, and two of the implants, placed in a lower area, were in polytetrafluoroethylene (PTFE-e, Dualmesh Plus Corduroy). The implants located in the right side of animals were painted with hyaluronidase gel. Two helical fasteners, painted and unpainted, were implanted in a medial location. After a five-week period the pigs were operated on again, intraperitoneal adhesion ratios and grades were determined, and the pigs later sacrificed. Specimens having abdominal wall implants were taken for histological studies. RESULTS: Intraperitoneal adhesions decreased in implants painted with hyaluronidase gel in a comparative study with implants located in the left side of animals (not painted). On the other hand the polypropylene mesh, said typically to produce intraperitoneal adhesions, produced almost no adhesion in many animals. CONCLUSIONS: Hyaluronidase gel reduces post-operative peritoneal adhesions ratio and grades including in the presence of polypropylene mesh.

[Prevention of peritoneal adhesions to intraperitoneal prostheses. An experimental study in pigs]. / Prevención de adherencias peritoneales a las prótesis intraperitoneales. Estudio experimental en cerdos.

INTRODUCTION: The aim of this study was to investigate the effect of fibrin glue and hyaluronidase gel on the prevention of postoperative peritoneal adhesions to intraperitoneal prostheses. MATERIAL AND METHOD: Twenty pigs, divided in two groups, were included. In all animals, four implants (4 x 4 cm) were placed: two polypropylene mesh implants were placed in an upper location and two polytetrafluoroethylene (PTFE) implants (Dualmesh Plus Corduroy) were placed in a lower position. Implants located in the right side of the animals were painted with fibrin glue (group A, n = 10) or with hyaluronidase gel (group B, n = 10). After 5 weeks, the animals were sacrificed and the results (number and grade of intraperitoneal adhesions, histological data on prosthesis integration, such as mesothelialization, fibroblast infiltration, vessel neoformation, etc.) were evaluated. RESULTS: Intraperitoneal adhesions decreased in implants painted with fibrin glue and hyaluronidase gel compared with untreated implants. When right-sided adhesions formed, they were looser and in many animals, the implants were completely peritonized. Integration of the prostheses was not affected by either fibrin glue or hyaluronidase gel. CONCLUSIONS: Adhesion formation can be reduced after abdominal surgery. The reduction achieved in this study was greater in the quantity than in the consistency of the adhesions. The results with hyaluronidase gel were moderately superior to those obtained with fibrin glue. Hyaluronidase gel has the advantage of being inexpensive.

Prevención de adherencias peritoneales a las prótesis intraperitoneales. Estudio experimental en cerdos / Prevention of peritoneal adhesions to intraperitoneal prostheses. An experimental study in pigs

Introducción. El objetivo de este estudio es investigar el efecto de la cola de fibrina y del gel de hialuronidasa en la prevención de adherencias peritoneales a las prótesis intraperitoneales. Material y método. En este estudio hemos utilizado 20 cerdos, divididos en 2 grupos: en todos los animales se procedió a colocar implantes de 4 x 4 cm: 2 de malla de polipropileno en una posición más cefálica, y otros dos de politetrafluoroetileno (Dualmesh® Plus Corduroy) en una posición más caudal. Los implantes situados en el lado derecho del animal se impregnaron de inhibidores de la producción de adherencias (en 10 animales se utilizó cola de fibrina, serie A, y en otros 10 se utilizó gel de hialuronidasa, serie B). Después de 5 semanas, se procedió al sacrificio de los animales y se evaluaron los resultados (cantidad y calidad de las adherencias formadas, así como datos histológicos de integración de las prótesis, como mesotelización infiltración por fibroblastos, vasos neoformados, etc.). Resultados. Al cabo de 5 semanas se apreciaba que los implantes impregnados de sustancias inhibidoras de la producción de adherencias presentaban menos adherencias, éstas (cuando existían) eran más laxas, e incluso en muchos casos los implantes estaban perfectamente peritonizados. La integración de las prótesis no estaba afectada por la presencia de los inhibidores. Conclusiones. La formación de adherencias puede disminuirse tras la cirugía abdominal. La disminución conseguida es mayor en la cantidad que en la consistencia de adherencias. Los resultados son algo mejores en la serie en la que se utilizó hialuronidasa que en la que se utilizó cola de fibrina. La hialuronidasa tiene la ventaja de tener un menor coste (AU)

Introduction. The aim of this study was to investigate the effect of fibrin glue and hyaluronidase gel on the prevention of postoperative peritoneal adhesions to intraperitoneal prostheses. Material and method. Twenty pigs, divided in two groups, were included. In all animals, four implants (4 x 4 cm) were placed: two polypropylene mesh implants were placed in an upper location and two polytetrafluoroethylene (PTFE) implants (Dualmesh Plus Corduroy) were placed in a lower position. Implants located in the right side of the animals were painted with fibrin glue (group A, n = 10) or with hyaluronidase gel (group B, n = 10). After 5 weeks, the animals were sacrificed and the results (number and grade of intraperitoneal adhesions, histological data on prosthesis integration, such as mesothelialization, fibroblast infiltration, vessel neoformation, etc.) were evaluated. Results. Intraperitoneal adhesions decreased in implants painted with fibrin glue and hyaluronidase gel compared with untreated implants. When right-sided adhesions formed, they were looser and in many animals, the implants were completely peritonized. Integration of the prostheses was not affected by either fibrin glue or hyaluronidase gel. Conclusions. Adhesion formation can be reduced after abdominal surgery. The reduction achieved in this study was greater in the quantity than in the consistency of the adhesions. The results with hyaluronidase gel were moderately superior to those obtained with fibrin glue. Hyaluronidase gel has the advantage of being inexpensive (AU)