Greater risk of parkinsonism associated with non-N370S GBA1 mutations.

Mutations in ß-glucosidase (GBA1) are the most common genetic risk factor for Parkinson disease (PD). There is evidence to suggest that PD risk is greater (1) in GBA1 heterozygotes with non-N370S GBA1 mutations compared to N370S mutations and (2) in GD type 1 (GD1) patients compared to GBA1 heterozygotes. This study aimed to determine the comparative risk of parkinsonism in individuals who are affected or carriers of Gaucher disease (GD) and to ascertain the influence of different GBA1 mutations on risk/clinical expression. We conducted a secondary analysis of cross-sectional data assessing the prevalence of parkinsonism in a population of GD1 patients and their heterozygote and non-carrier family members. Two logistic regression models, both employing a family-specific random effect, were used to assess (1) the association between GBA1 mutation (N370S or non-N370S) and parkinsonism among GBA1 heterozygotes and (2) the association between GBA1 genotype and parkinsonism. Parkinsonism was present in 8.6 % of GD1 (7/81), 8.7 % of GBA1 heterozygotes (18/207), and 2.2 % of non-carriers (1/45). For those greater than 60 years old, parkinsonism was present in 38.5 % (5/13) of GD1 (5/13), 15.3 % of GBA1 heterozygotes (13/85), and 7.1 % of non-carriers (1/14). Among GBA1 heterozygotes, non-N370S mutations were associated with a significantly increased risk of parkinsonism compared to N370S (OR = 22.5; p = 0.035; 95%CI: 1.24, 411). In this population, each additional GBA1 mutation was associated with a non-significant two-fold increased risk of parkinsonism. GBA1 heterozygotes with non-N370S mutations associated with Gaucher disease have an increased risk of parkinsonism compared to those with N370S mutations.

Evaluation of testicular echotexture with Ecotext as a diagnostic method of testicular dysfunction in stallions.

This study aimed to assess if Ecotext, a new software for evaluation of testicular echotexture, is a good method for diagnosis of stallions with testicular dysfunction (TD). Relationships between Ecotext parameters and sperm motility and production, testicular volume, and testicular blood flow were also studied. Ecotext provides a total of six echotexture parameters: Ecotext 1 (black pixels), 2 (white pixels) and 3 (grey pixels), and another 3 parameters related to hypoechogenic areas: Ecotext tubular density (ETD), Ecotext tubular diameter (ETd), and Ecotext tubular area (ETA). Stallions (n = 33) were assessed using proven diagnostic techniques (spermiogram, B-mode and Pulse Doppler ultrasound), and subsequent analysis with Ecotext. Animals were classified as "control stallions" (n:21, acceptable semen quality), and "stallions with TD" (n:12, poor semen quality (TM < 60%, PM < 45% and total nº of sperm with PM < 2000 × 106 spz), that were subdivided into "induced TD group" (immunized, anti-GnRH vaccine) and "acquired TD group". The acquired TD group showed differences in all Ecotext parameters in relation to controls (Ecotext 1:0.11 ± 0.17 vs 2.82 ± 2.52, Ecotext 2:1584.0 ± 575.8 vs 388 ± 368.2, Ecotext 3:134.2 ± 9.26; ETA: 2.14 ± 0.59 vs 5.40 ± 1.90; ETd: 65.66 ± 6.27 vs 86.93 ± 10.65 and ETD: 92.35 ± 11.24 vs 132.10 ± 16.35, p ≤ 0.001). Results suggest acquired TD stallions were suffering testicular degeneration with loss of architecture and function as all Ecotext parameters were altered in relation to controls. Induced TD horses only showed a reduction in ETD (116.2 ± 8.59 vs 132.10 ± 16.35, p ≤ 0.001), despite all sperm parameters being worse. These findings suggested immunized stallions probably only experience an acute loss of testicular functionality and parenchyma architecture is likely not affected since differences in Ecotext parameters with control stallions were not detected. ETD was the best parameter to identify animals with TD (AUC: 0.84, optimal cut-off value of 124.3 seminiferous tubules/cm2). Correlations were found between ETD and Doppler indices (PI: 0.60; RI: 0.47 p ≤ 0.001), total testicular volume (r: 0.48; p ≤ 0.05) and sperm motility (TM:0.51; and PM:0.54; p ≤ 0.001) and production (r:0.51; p ≤ 0.001). In summary, Ecotext could identify changes in testicular echotexture of stallions with TD. Results open the possibility for new research focused on establishing the relationship between Ecotext parameters and histomorphometry features in stallion testes.

Cardiac conotruncal malformations in a family of beagle dogs.

OBJECTIVES: To study forms of congenital heart disease present in a family of beagle dogs with a strong prevalence of ventricular septal defect and to document the pathological findings associated with the ventricular septal defects and investigate the mode of transmission. METHODS: The animals were investigated by physical examination, radiography, electrocardiography and ultrasonography to diagnose the presence of congenital heart disease. Some animals were diagnosed at post-mortem examination and the dead animals underwent post-mortem examination to verify the presence of ventricular septal defect. An analysis of pedigree was undertaken and two of the affected animals were mated to investigate the mode of transmission. RESULTS: Among the 28 dogs evaluated clinically or by post-mortem examination, 14 cases of ventricular septal defect were identified. The post-mortem examination showed some abnormalities of the ventricular outflow region associated with malformation of conotruncal septum development. When two affected dogs were bred, congenital heart disease was present in all of the offspring. CLINICAL SIGNIFICANCE: The congenital heart disease identified in this beagle family can be classified as conotruncal malformation, and an autosomal recessive mode of inheritance was suggested by pedigree analysis.

[Emotional processing of facial expressions in normal and pathological ageing]. / Procesamiento emocional de las expresiones faciales en el envejecimiento normal y patológico.

INTRODUCTION: Many studies have shown that in both normal and pathological ageing there is a deterioration of emotional processing, especially as regards negative emotions such as fear. AIM: To review the most important neurological and psychological research carried out to study emotional processing and relate it to the cognitive deterioration that characterises normal ageing and neurodegenerative diseases. DEVELOPMENT: Here, we discuss the two main lines of research, i.e. the socio emotional approach, which claims that as we get older we gain a better understanding of our emotions because of a deeper knowledge of social relationships, interpersonal enrichment and the importance of goals that are linked to our emotional life; and, on the other hand, the neuropsychological approach, which studies the areas of brain activation involved in processing emotional facial expressions and the underlying mental processes. CONCLUSIONS: Both approaches underline the deficient processing of negative emotions that comes with age, while processing of positive emotions remains relatively intact. Recent research suggests that deficits in emotional processing depend on the cognitive deterioration that characterises ageing. When the task requires resources from working memory, which is one of the first systems to deteriorate in ageing, the result is compromised emotional processing. Yet, when the task requires the use of implicit memory, no age-related alterations are observed in emotional processing.

[Tracheomalacia in a child with atresia of the esophagus: surgical treatment by aortopexy]. / Traqueomalacia en un niño con atresia de esófago: tratamiento quirúrgico mediante aortopexia.

A child who developed apneic spells during feeding, following repair of oesophageal atresia is reported. Symptoms were relieved by suspending the aortic arch to the undersurface of the sternum. Tracheomalacia, its diagnostic and management is discussed.

[The identification of Aeromonas species isolated in Cuba]. / Identificación en especies de Aeromonas aisladas en Cuba.

100 Aeromonas strains, isolated from children under 5 years with acute diarrheal diseases from various health centers of the country, were studied from January to July, 1990. Using the Janda-modified Popoff's and Veron's model, 63% of the strains were identified in species through primary tests, and 100% of the other 37% were identified in Aeromonas sobria, Aeromonas hydrophila, and Aeromonas caviae, using also supplementary tests.

[Application of pyrazinamidase activity for the identification of Aeromonas species]. / Aplicación de la actividad pirazinamidasa para la identificación en especies de Aeromonas.

70 Aeromonas strains isolated from patients with acute diarrheal disease were classified into species by using the CAMP factor test and the Pyrazinamidase activity. It is stressed the high percent of coincidence between both tests, which are easy to make at the clinical microbiology laboratories.

[The antimicrobial sensitivity and plasmid isolation in Plesiomonas shigelloides]. / Susceptibilidad antimicrobiana y aislamiento de plásmidos en Plesiomonas shigelloides.

30 strains of Plesiomonas shigelloides isolated from patients with acute diarrheal disease at different health centers of the country were studied. The were phenotypically characterized by conventional biochemical tests and the antimicrobial susceptibility to 11 drugs was determined by the Kirby Bauer's method. It was found that the strains of Plesiomonas shigelloides were sensitive to 7 and resistant to 6 of the investigated drugs. The presence of plasmids in 12 of the 29 analyzed strains was determined and the diversity in their plasmidic patterns was proved.

[Phenotype markers in strains of Aeromonas isolated in Cuba from children with an acute diarrheic disease]. / Marcadores fenotípicos en cepas de Aeromonas aisladas en Cuba de niños con enfermedad diarreica aguda.

Twenty-seven cases of Aeromonas isolated from 300 five-years children with acute diarrheal disease (EDA) were studied, with the aim for demonstrating the occurrence of some phenotypical markers associated with enteropathogenicity; among them were lysine decarboxylation, acetil methyl carbinol production, enterotoxigenicity, cytotoxicity and hemolysis. The percentage of analysed strains had two or more of the investigated markers, and 13 (48.1%) lysed the rabbit erythrocytes with titres higher than than 1:16. The presence of markers in Aeromonas hydrophila, Aeromonas sobria, and Aeromonas caviae was demonstrated.

Procesamiento emocional de las expresiones faciales en el envejecimiento normal y patológicoK– / Emotional processing of facial expressions in normal and pathological ageing

Muchas investigaciones han demostrado que en el envejecimiento, normal y patológico, hay un deterioroen el procesamiento emocional, especialmente de las emociones negativas como el miedo. Objetivo. Revisar las principales investigaciones neurológicas y psicológicas que estudian el procesamiento emocional y relacionarlo con el deterioro cognitivo característico del envejecimiento normal y las enfermedades neurodegenerativas. Desarrollo. Se exponen las dos principales líneas de investigación: el enfoque socioemocional, que defiende que con la edad se comprenden mejor las emociones debido al mayor conocimiento de las relaciones sociales, al enriquecimiento interpersonal y a la importancia que tienen las metas relacionadas con la vida afectiva; y el enfoque neuropsicológico, que estudia las zonas de activación cerebral implicadas en el procesamiento de las expresiones faciales emocionales y los procesos mentales subyacentes. Conclusiones. Ambos enfoques destacan los déficit relacionados con la edad para el procesamiento de las emociones negativas, mientras que se mantiene relativamente intacto el de las emociones de carácter positivo. Investigaciones recientes defienden que los déficit en el procesamiento emocional dependen del deterioro cognitivo característico del envejecimiento. Cuando la tarea requiere recursos de la memoria de trabajo, uno de los primeros sistemas en deteriorarse en el envejecimiento, el procesamientoemocional se ve afectado de manera consecuente. Sin embargo, cuando la tarea requiere el uso de la memoria implícita, no se observan alteraciones en el procesamiento emocional asociadas al envejecimiento

Many studies have shown that in both normal and pathological ageing there is a deterioration ofemotional processing, especially as regards negative emotions such as fear. Aim. To review the most important neurological and psychological research carried out to study emotional processing and relate it to the cognitive deterioration that characterisesnormal ageing and neurodegenerative diseases. Development. Here, we discuss the two main lines of research, i.e. the socio emotional approach, which claims that as we get older we gain a better understanding of our emotions because of a deeperknowledge of social relationships, interpersonal enrichment and the importance of goals that are linked to our emotional life; and, on the other hand, the neuropsychological approach, which studies the areas of brain activation involved in processingemotional facial expressions and the underlying mental processes. Conclusions. Both approaches underline the deficient processing of negative emotions that comes with age, while processing of positive emotions remains relatively intact. Recent research suggests that deficits in emotional processing depend on the cognitive deterioration that characterises ageing. Whenthe task requires resources from working memory, which is one of the first systems to deteriorate in ageing, the result is compromised emotional processing. Yet, when the task requires the use of implicit memory, no age-related alterations are observed in emotional processing