Prevalencia de mastitis subclínica en tambo lechero en Paraguay / Prevalence of Subclinical Mastitis in Dairy Farm in Paraguay

Resumen El presente trabajo de investigación se llevó a cabo en un tambo del distrito de Nueva Italia, situado en el departamento Central. El objetivo de la investigación fue determinar la prevalencia de mastitis subclínica. Para el efecto, se contó con 147 animales de la especie bovina, hembras de razas holando, cruces jersey-holando y holando-gyr, de diferentes edades y periodos de lactación, con y sin síntomas de mastitis. Se realizó la prueba California Mastitis Test (CMT) y, de las 147 muestras analizadas, 110 dieron positivo a mastitis subclínica, lo que representa una prevalencia de 74,83 %. De los 551 cuartos estudiados, 315 fueron positivos, equivalentes al 57 %. Los cuartos posteriores resultaron ser el 50,6% de los cuartos totales. Según grados de CMT los resultados fueron: negativo, 43 % (236); trazas, 17 % (91); grado 1, 25 % (138); grado 2: 13,7 % (76), y grado 3: 1,8 % (10). La merma fue de 129,6 litros de leche por ordeñe. Teniendo en cuenta que el precio por litro de leche es Gs 2300 (USD 0,35), el total fue de Gs 298 080 (USD 45,6), que representa el 8,6 % de pérdida.

Abstract This research work was conducted in a dairy farm in the Nueva Italia district, located in the Central Province. The research aimed to determine the prevalence of subclinical mastitis therein. To do so, 147 female bovine subjects were studied, including Holstein specimens, Jersey-Holstein crossbreeds, and Holstein-Gyr crossbreeds, with different ages and lactation periods. There were both symptomatic and asymptomatic animals. A California Mastitis Test (CMT) was applied and out of the 147 sampled animals, 110 resulted positive to the disease, accounting for a prevalence of 74.83%. Out of the 551 studied rooms, 315 were positive, accounting for 57%. The rooms in the backside accounted for 50.6% of the total positive rooms. Based on the CMT grades, the results were as follows: negative, 43% (236); traces, 17% (91); grade 1.25% (138); grade 2: 13.7% (76), and grade 3: 1.8% (10). There was a decrease of 129.6 liters milk per milking session. Considering that per-liter price is Gs 2300 (USD 0.35), the total loss of the milk was Gs 298,080 (USD 45.6), equaling 8.6% of profit loss.

Effect of the type of milking on mammary gland examination in Saanen goats / Efeito do tipo de ordenha sobre o exame da glândula mamária de cabras Saanen

This research evaluated the effect of milking on the physical exam of the mammary gland (MG) and milk examination in Saanen goats. Six properties were selected, four farms were used after evaluation of criteria selection and distributed in two groups according to the milking method: manual or mechanical. The physical examination of MG was performed using the techniques of inspection and palpation, in addition to the examination of the milk by strip cup, California Mastitis Test, somatic cell count, and bacteriological exam. It was possible to detect an association between the milking method with the most of physical exam of the MG: inspection of the MG (p = 0.001), inspection of the teat (p = 0.002), palpation of the MG (p = 0.054) and palpation of the teat (p = 0.036). The machine milking had an association with the reduction of the volume of MG (OR = 6.00), reduction of the teat size (OR = 16.19), and firm consistency of mammary parenchyma (OR = 2.39). The use of machine milking represented a less risk for an increase of the volume of the MG volume (OR = 0.288) and the presence of cisternitis (OR = 0.490). The association between the SCC and the type of milking was also detected (p = 0.002). Machine milking was associated with changesin the physical exam of MG and milk examination compatible with traumatic lesions. This information indicates inappropriate use of milking equipment in the dairy goat's properties.(AU)

Esta pesquisa avaliou o efeito da ordenha sobre o exame físico da glândula mamária (GM) e do leite em cabras Saanen. Seis propriedades foram selecionadas, quatro fazendas foram utilizadas após avaliação da seleção dos critérios e distribuídas em dois grupos de acordo com o método de ordenha: manual ou mecânico. O exame físico da GM foi realizado utilizando as técnicas de inspeção e palpação, além do exame do leite pelo teste da caneca de fundo escuro, California Mastitis Test, contagem de células somáticas e exame bacteriológico. Foi possível detectar uma associação entre o método de ordenha com a maioria dos exames físicos da GM: inspeção da GM (p = 0,001), inspeção do teto (p = 0,002), palpação da GM (p = 0,054) e palpação do teto (p = 0,036). A ordenha mecânica associou-se com a redução do volume de GM (OR = 6,00), redução do tamanho do teto (OR = 16,19) e consistência firme do parênquima mamário (OR = 2,39). O uso da ordenha mecânica representou menor risco para o aumento do volume do volume da GM (OR = 0,288) e presença da cisternite (OR = 0,490). Também foi detectada a associação entre a CCS e o tipo de ordenha (p = 0,002). A ordenha mecânica foi associada com as alterações no exame físico de GM e do leite compatíveis com lesões traumáticas. Essas informações indicam o uso inadequado do equipamento de ordenha na criação de cabras leiteiras.(AU)

miR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22

Charcot-Marie Tooth disease type 1A (CMT1A), the major type of CMT, is caused by duplication of peripheral myelin protein 22 (PMP22) gene whose overexpression causes structural and functional abnormalities in myelination. We investigated whether miRNA-mediated regulation of PMP22 expression could reduce the expression level of PMP22, thereby alleviating the demyelinating neuropathic phenotype of CMT1A. We found that several miRNAs were down-regulated in C22 mouse, a CMT1A mouse model. Among them, miR-381 could target 3′ untranslated region (3′UTR) of PMP22 in vitro based on Western botting and quantitative Real Time-PCR (qRT-PCR) results. In vivo efficacy of miR-381 was assessed by administration of LV-miR-381, an miR-381 expressing lentiviral vector, into the sciatic nerve of C22 mice by a single injection at postnatal day 6 (p6). Administration of LV-miR-381 reduced expression level of PMP22 along with elevated level of miR-381 in the sciatic nerve. Rotarod performance analysis revealed that locomotor coordination of LV-miR-381 administered C22 mice was significantly enhanced from 8 weeks post administration. Electrophysiologically, increased motor nerve conduction velocity was observed in treated mice. Histologically, toluidine blue staining and electron microscopy revealed that structural abnormalities of myelination were improved in sciatic nerves of LV-miR-381 treated mice. Therefore, delivery of miR-381 ameliorated the phenotype of peripheral neuropathy in CMT1A mouse model by down-regulating PMP22 expression. These data suggest that miRNA can be used as a potent therapeutic strategy to control diseases with copy number variations such as CMT1A.

Tipologia de manejo de ordenha: análise de fatores de risco para a mastite subclínica / Typology of milking management: analysis of risk factors for subclinical mastitis

Apesar do volume de leite produzido, a qualidade da matéria-prima é um dos maiores entraves ao desenvolvimento tecnológico e à consolidação da indústria de laticínios no Brasil. Dentre os entraves, toma destaque a contagem de células somáticas do leite, que é o indicador mais usado em programas de controle e prevenção da mastite em todo o mundo. Com objetivo de identificar características no manejo de ordenha e quantificar fatores de risco que elevam a mastite subclínica e seus principais agentes causadores, realizou-se coleta de dados in loco em propriedades leiteiras na região Oeste do Paraná, coletas que consistiam na aplicação de dois questionários guia semi-estruturados, acompanhamento de uma ordenha e coleta de leite de três vacas que apresentassem o teste de CMT positivo. Com a utilização do método estatístico de análise de correspondência múltipla (ACM) chegou-se a um montante de 12 variáveis a serem estudadas e a formação das dimensões 1 e 2 com 28,54% e 21,06% da variância explicada respectivamente. Com a análise de classificação hierárquica ascendente permitiu reduzir o universo inicial de 112 vacas para quatro grupos homogêneos de produção (G1, G2, G3, G4). As características de manejo de ordenha: tipo de ordenha, secagem dos tetos antes da ordenha, tratamento para casos de mastite clínica, higiene das mãos do ordenhador e treinamento dos ordenadores foram identificados como fatores de risco para mastite subclínica com isolamento do agente Staphylococcus coagulase negativo, o qual foi o agente mais prevalente nos isolamentos microbiológicos das amostras de leite com mastite subclínica.(AU)

Despite the produced milk volume, its quality is one of the barriers for technological development and consolidation of the dairy industry in Brazil. Among the barriers is the milk somatic cell count, which is the indicator used in most control programs and prevention of mastitis. In order to identify characteristics in the management of milking and to quantify risk factors that increase subclinical mastitis and its main bacterial agents, data were collected in situ on dairy farms in western Paraná. The data collection consisted in the application of two questionnaires, in accompanying a milking procedure, and in collection of CMT positive milk samples from three cows. Using the statistical method of multiple correspondence analysis (MCA) we came to a total of 12 variables to be studied, and to the formation of dimension 1 and 2 with respectively 28.54% and 21.06% of the explained variance. With the hierarchical ascending classification analysis it was possible to reduce the initial population of 112 cows to produce four homogeneous groups (G1, G2, G3, G4). The milking handling characteristics, as type of milking, drying teats before milking, treatment for cases of clinical mastitis, milker's hand hygiene and as training of officers, were identified as risk factors for subclinical mastitis with isolation of a coagulase negative Staphylococcus, which was the most prevalent agent in milk samples of subclinical mastitis.(AU)

Comparison of clinical manifestations and electrophysiological features in patients with chronic inflamma-tory demyelinating polyneuropathy and Type-I Charcot Marie Tooth Disease / 中国神经精神疾病杂志

Objectives To compare clinical manifestations and electrophysiological features in patients with chron?ic inflammatory demyelinating polyneuropathy (CIDP) and Type-I Charcot Marie Tooth Disease (CMT-I) for guiding dif?ferential diagnosis. Methods Data including clinical manifestations and electrophysiological indexes was collected from thirty-one CIDP cases and 28 CMT-I cases. Correlation analysis was used to assess the association of the severity of electrophysiology with the severity of clinical symptoms. Results There were statistically significant differences in onset site, sensory dysfunction, foot deformity and cerebrospinal fluid protein between these two groups (P0.05). Conclusions Differential diagnoses of CIDP and CMT-I can be made based on clinical manifestations and electro?physiological features.

Relationship between carotid intima media thickness and lipid profile in type two diabetes mellitus and stage 2 hypertension.

Background & objectives: Diabetes Mellitus (DM) & hypertension (HTN) are common diseases causing premature atherosclerosis; and associated hyperlipidemia causes cardiovascular morbidity & mortality. They impose tremendous burden on healthcare system. Carotid intima-media thickness (IMT), an early marker of atherosclerosis and For every 0.1-mm increase in carotid IMT, the relative risk of ischemic heart disease increases by 15% and that of cerebrovascular disease by 18%.3 in type 2 diabetes Mellitus (DM2) patients. This study was carried out with objectives of : 1. To evaluate the prevalence of altered lipid profile in type 2 DM & stage 2 HTN & its relationship with carotid intima media thickness ( CMT) as a marker of atherosclerosis.2. To study prevalence of altered lipid profile in type 2 DM & stage 2 HTN patients with respect to control subjects.3. To study additive effect of diabetes & hypertension on lipid profile & CMT . 4. Quantitative correlation of altered lipid profile & diabetic control HbA1c with CMT. 5. Relation of CMT with other established parameters like age, BMI >26kg/m2 , total cholesterol, LDL & HDL cholesterol. Methods: The current prospective study has been carried out at Shree Sayaji General Hospital. From 1st September 2010 to 30th August 2011 with following group of patients who attended outdoor patient department in medicine department.1. A group of 15 type 2 Diabetes mellitus patients.2. A group of 15 stage 2 hypertensive patients.3. A group of 15 control patients. Results: In HTN patients, total cholesterol has positive and poor correlation while HDL cholesterol has negative & good correlation with CMT. LDL cholesterol has positive & very good correlation & VLDL cholesterol has positive &very good correlation with CMT. TC/LDL has positive & very good correlation with CMT. In DM patients, total cholesterol has positive & good relation, while HDL cholesterol has negative & good correlation with CMT.LDL cholesterol has positive & very good correlation with CMT. While VLDL cholesterol has positive & very good.TC/LDL has positive & very good correlation with CMT. While HBA1c has negative & poor correlation with CMT. The other parameters which were found to be associated with increased carotid intima media thickness were increasing age, BMI > 25 Kg/m2, post prandial blood glucose levels, high total cholesterol & low HDL cholesterol.HbA1c has not shown to be important correlation with CMT. CMT values are highly significant at p<.05 level in HTN & DM group of patients in comparison to controls.

Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication

BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A) is the demyelinating form of CMT that is significantly associated with PMP22 duplication. Some studies have found that the disease-related disabilities of these patients are correlated with their compound muscle action potentials (CMAPs), while others have suggested that they are related to the nerve conduction velocities. In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients. METHODS: We analyzed 167 CMT1A patients of Korean origin with PMP22 duplication using clinical and electrophysiological assessments, including the CMT neuropathy score and the functional disability scale. RESULTS: Clinical motor disabilities were significantly correlated with the CMAPs but not the motor nerve conduction velocities (MNCVs). Moreover, the observed sensory impairments matched the corresponding reductions in the sensory nerve action potentials (SNAPs) but not with slowing of the sensory nerve conduction velocities (SNCVs). In addition, CMAPs were strongly correlated with the disease duration but not with the age at onset. The terminal latency index did not differ between CMT1A patients and healthy controls. CONCLUSIONS: In CMT1A patients, disease-related disabilities such as muscle wasting and sensory impairment were strongly correlated with CMAPs and SNAPs but not with the MNCVs or SNCVs. Therefore, we suggest that the clinical disabilities of CMT patients are determined by the extent of axonal dysfunction.

Study of hereditary neuropathy in the large kindreds of Gobi-Altai province / Монголын Анагаах Ухаан

The purpose of the present study was to elucidate genealogical and clinical features of hereditary neuropathy in the several kindreds of Gobi-Altai province.Materials and Methods: In the present study, we investigated five kindreds originated from Bayan-Uul sum, Gobi-Altai province on the basis of previous surveys. Each participant was enrolled for genealogical and neurological examinations according to specific questionnaire. We also collected biological samples for further genetic study. Genomic DNA was isolated from biological samples, and quantitative analysis of DNA was determined by spectrophotometer and Picogreen assays.Results: Twenty members from five kindreds were investigated. Genealogical analysis revealed that there is a linkage between two kindreds within the families enrolled into study, whereas no association was revealed among the other pedigrees. As a phenotype of the hereditary neuropathy, the clinical features were inherited in every generation, and the inheritance was not dependent on the gender. In neurological examination, age of hereditary neuropathy onset was detected as follows. The clinical features appeared in the first decade of life in 4 patients, in the second decade of life in 5 patients, and for the other members the disease started in the age of over 20 years. Common clinical features of hereditary neuropathy were characterized by hypomimic- and mask shape face, muscular atrophy of upper and lower limbs, and pes cavus. Interestingly five female patients had similar gynecological problems. Conclusions:1. The hereditary neuropathy exists in the kindreds of Bayan-Uul sum, Gobi-Altai province and the type of inheritance could be categorized as autosomal dominant.2. Onset of hereditary neuropathy disease was started mostly in the second decade of life. Common clinical features of hereditary neuropathy were characterized by hypomimic- and mask shape face, muscular atrophy of upper and lower limbs, and pes cavus. Apart from general clinical features, the specific complications related to metabolic disorders and pregnancy was detected.

Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs / Investigação clínica e neurofisiológica de família com doença de Charcot-Marie-Tooth tipo 2 com sinais piramidais

Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the aid of electromyography and nerve conduction studies, as demyelinating (CMT1) or axonal (CMT2). OBJECTIVE: Clinical and neurophysiological investigation of a large multigenerational family with CMT2 with autosomal dominant mode of transmission. METHOD: Fifty individuals were evaluated and neurophysiological studies performed in 22 patients. RESULTS: Thirty individuals had clinical signs of motor-sensory neuropathy. Babinski sign was present in 14 individuals. Neurophysiological study showed motor-sensory axonal polyneuropathy. CONCLUSION: The clinical and neurophysiological characteristics of this family does not differ from those observed with other forms of CMT, except for the high prevalence of Babinski sign.

A doença de Charcot-Marie-Tooth (CMT) é uma neuropatia hereditária de acometimento sensitivo e motor de predomínio distal. Atrofia e fraqueza em membros inferiores são os primeiros sinais da doença. Pode ser classificada, com auxílio da eletroneuromiografia, em desmielinizante (CMT1) ou axonal (CMT2). OBJETIVO: Investigação clínica e neurofisiológica de família com portadores de CMT2 de herança dominante. MÉTODO: Foi feita avaliação neurológica de 50 indivíduos e eletroneuromiografia em 22 pacientes. RESULTADOS: Trinta indivíduos tinham sinais clínicos de neuropatia sensitivo-motora. Sinal de Babinski estava presente em 14 indivíduos. A eletroneuromiografia demonstrou polineuropatia axonal sensitiva e motora. CONCLUSÃO: As características clínicas e neurofisiológicas desta família não se diferem das observadas em outras formas de CMT, exceto pela alta prevalência de sinal de Babinski.

Alleles of the BoLA DRB3.2 gene are associated with mastitis in dairy cows / Alelos del gen BoLA DRB3.2 están asociados con mastitis en vacas lecheras / Alelos BOLA DRB3.2 estão associados à mastite em vacas leiteiras

The Mayor Histocompatibility Complex (MHC) is a pool of genes which regulate both processing and recognition of antigens. The MHC is the main genetic component of the resistance or susceptibility to infectious diseases. In bovines, MHC is known as Bovine Leukocyte Antigen (BoLA), and some of its alleles have been associated with udder health issues. This study evaluated exon-2 polymorphisms of BoLA DRB3 gene in 91 cows of a dairy farm. A total of 66 Holstein and 25 cross breed BON x Holstein (BxH) cows were evaluated. Twenty seven alleles were identified by PCR-RFLP and PCR-SBT. Allelic frequencies varied from 0.8 to 15.9% for the Holstein, and from 2 to 20% for BxH cows. The BoLA DRB3.2*23 was the most frequent allele in both groups. A prospective study was also conducted for cows in production (n=47) during one lactation to determine subclinical mastitis incidence using the California Mastitis Test (CMT). A 38.69% frequency of positive cases was observed. Additionally, a retrospective study was conducted for all the cows (n=91), finding 9.2% incidence of clinical mastitis per year. Possible associations were established using a statistical model to determine the effect of genetic substitution, in which BoLA DRB3.2*24 was used as the substitution allele. Alleles associated with susceptibility to subclinical mastitis were DRB3.2*8 (p<0.10) and DRB3.2*14 (p< 0.01). Allele DRB3.2*33 was associated with resistance to subclinical mastitis (p<0.01). No significant associations were found for clinical mastitis.

El complejo mayor de histocompatibilidad (CMH) es un conglomerado de genes que regulan el procesamiento y reconocimiento de antígenos extraños, siendo el principal componente genético de resistencia o susceptibilidad a enfermedades infecciosas. En bovinos el CMH es conocido como antígeno leucocitario bovino (BoLA) y algunos alelos de este han sido asociados con problemas de salud de la ubre. En este estudio se evaluaron polimorfismos del exón 2 del gen BoLA DRB3 en 91 animales, 66 vacas de raza Holstein y 25 vacas del cruce de razas BON x Holstein (BxH) del Hato Paysandú de la Universidad Nacional de Colombia. Fueron identificados 27 alelos mediante PCR-RFLP y confirmados por PCR-SBT, encontrando frecuencias alélicas desde 0.8 hasta 15.9% en la raza Holstein y desde 2 hasta 20% en BxH. El alelo más frecuente en los dos grupos fue el alelo BoLA DRB3.2*23. Para determinar la frecuencia de mastitis subclínica, se realizó un estudio prospectivo con animales en producción (n = 47) durante un periodo de una lactancia, empleando la prueba CMT (California Mastitis Test) y se determinó una frecuencia de 38.69% de casos positivos (reacciones positivas: una, dos y tres cruces) en promedio. Para mastitis clínica se realizó un estudio retrospectivo en toda la población (n=91), a partir de los registros clínicos y se determinó una incidencia anual de 9.2%. Adicionalmente se establecieron asociaciones potenciales utilizando un modelo estadístico para determinar el efecto de sustitución genética en el cual se empleó el alelo BoLA DRB3.2*24 como alelo de sustitución. Los alelos asociados con susceptibilidad a mastitis subclínica fueron DRB3.2*8 (p<0.10) y el *14 (p< 0.01), de otro lado el alelo *33 fue asociado con resistencia a esta misma enfermedad (p< 0.01). Para mastitis clínica no se encontraron asociaciones significativas.

O complexo principal de histocompatibilidade (CMH) é um conjunto de genes que regulam o processamento e reconhecimento de antígenos estranhos, o principal componente genético da resistência ou suscetibilidade a doenças infecciosas. Em bovinos, o CMH é conhecida como antígeno leucocitário bovino (BoLA) e alguns alelos têm sido associados a problemas de saúde do úbere. Neste estudo, os polimorfismos do éxon 2 do gene BoLA DRB3 em 91 animais, 66 vacas e 25 vacas da raça Holandesa no cruzamento BON x Holandês (BXH) do rebanho Paysandú, da Universidade Nacional da Colômbia. Foram identificados 27 alelos foram identificados por PCR-RFLP e confirmados por PCR-SBT, encontrando frequências alélicas de 0.8 - 15.9% para a raça Holandesa e 2 - 20% em BXH. O alelo mais frequente nos dois grupos foi BoLA DRB3.2*23. Para determinar a frequência de mastite subclínica, um estudo prospectivo foi realizado com animais de produção (n=47) durante o período de lactação, utilizando o CMT (Califórnia Mastite Teste) e foi determinada uma frequência de 38,69% de casos positivos (reacções positivas: uma, duas e três cruzes) em média. Para a mastite clínica foi feito um estudo retrospectivo em toda a população (n=91), a partir de casos clínicos e foi encontrada uma incidência anual de 9.2%. Além disso, foram estabelecidas potenciais associações, utilizando um modelo estatístico para determinar o efeito da substituição genética do alelo DRB3.2*24. Os alelos associados à susceptibilidade à mastite foram DRB3.2 * 8 (p<0.10) e o * 14 (p<0.01), o alelo * 33 esteve associado com a resistência à mesma doença (p<0.01). Para a mastite clínica não foram encontradas associações significativas.

Foot Deformity in Charcot Marie Tooth Disease According to Disease Severity

OBJECTIVE: To investigate the characteristics of foot deformities in patients with Charcot-Marie-Tooth (CMT) disease compared with normal persons according to severity of disease. METHOD: Sixty-two patients with CMT disease were recruited for this study. The normal control group was composed of 28 healthy people without any foot deformity. Patients were classified into a mild group and a moderate group according to the CMT neuropathy score. Ten typical radiological angles representing foot deformities such as pes equinus and pes varus were measured. The CMT group angles were compared with those of the normal control group, and those of the mild group were also compared with those of the moderate group. RESULTS: The lateral (Lat.) talo-first metatarsal angle, anteroposterior talo-first metatarsal angle, Lat. calcaneal-first metatarsal angle, Lat. naviocuboid overlap, Lat. calcaneal pitch, Lat. tibiocalcaneal angle, and Lat. talocalcaneal angle in the CMT group showed a significant difference compared to the normal control group (p<0.05). These findings revealed CMT patients have pes cavus, forefoot adduction, midfoot supination and pes varus deformity. Compared to the mild group, the moderate group significantly showed an increased Lat. calcaneal pitch and decreased Lat. calcaneal-first metatarsal angle, Lat. tibiocalcaneal angle, Lat. talocalcaneal angle, and Lat. talo-first metatarsal angle (p<0.05). These findings revealed that the pes cavus deformity of CMT patients tend to be worse with disease severity. CONCLUSION: The characteristic equinovarus foot deformity patterns in CMT patients were revealed and these deformities tended to be worse with disease severity. Radiographic measures may be useful for the investigation of foot deformities in CMT patients.

Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva) en Palmares, Costa Rica / Frequency of the allele causing Charcot-Marie-Tooth disease (axonal type with autosomal recessive inheritance) in Palmares, Costa Rica

Frecuency of the allele causing the axonal form of autosomal recessive Charcot-Marie-Tooth in Palmares, Costa Rica. The Charcot-Marie-Tooth disease constitutes is among the most frequent hereditary peripheral neuropathies world-wide. We identified a family from Palmares (Alajuela, Costa Rica) with 18 affected members. Their neuropathy is axonal, with an autosomal recessive pattern of inheritance; the responsible gene is at the 19q13.33 chromosomal region. Later the mutation was identified in gene MED25. We studied the frequency and geographic distribution of the mutant allele. In a random sample of 103 individuals, six were heterozygote and were widely distributed in Palmares. There was no person in homozigote state for the mutant allele. Clinical characteristics do not differ significantly between individuals that are homozygous for the wildtype allele and individuals hetero zygous for the mutation. A 5.83 % of the population is heterozygote and the frequency of the Ala335Val allele is 0.029, six times higher than in a sample of the Costa Rican population. Werecommend a molecular analysis of carriers to detect additional cases in the region. Rev. Biol. Trop. 57 (Suppl.1): 381-387. Epub 2009 November 30.

La enfermedad de Charcot-Marie-Tooth constituye elgrupo de neuropatías periféricas hereditarias más común a nivel mundial. Una familia con 18 afectados del cantón de Palmares (Alajuela, Costa Rica) con una neuropatía de tipo axonal y herencia autosómica recesiva, permitió localizar el gen responsable en la región 19q13.33. Posteriormente se identificó la mutación causante en el gen MED25. El presente estudio determinó la frecuencia del alelo mutante, así como la distribución geográfica de este alelo. En una muestra al azar de 103 individuos se encontraron seis individuos heteroigotas para la mutación, distribuidos por todo el cantón. No se encontró ninguna persona en estado homocigota para este alelo. No hallamos algunacaracterística clínica que difiera significativamente entre los individuos homocigotos silvestres y los heterocigotos para la mutación. El 5.83% de la población es heterocigota y la frecuencia del alelo Ala335Val es de 0.029, seis veces mayor que en una muestra de toda la población costarricense. Por esta razón se recomienda un análisis molecular de portadores con el fin de alertar sobre la posibilidad de aparición de más casos en el cantón.

Photodynamic Therapy for Chronic Central Serous Chorioretinopathy: Multicenter Study of 65 Cases

PURPOSE: To determine the effect of photodynamic therapy (PDT) on patients with chronic central serous chorioretinopahty (CSC). METHODS: This was a retrospective multicenter study. We collected demographic and ophthalmic data for patients with chronic CSC who were treated with PDT from 16 institutions in Korea. The best corrected visual acuity (BCVA), ophthalmoscopic finding and optical coherence tomography at baseline and follow-up visits were compared longitudinally. RESULTS: Sixty-five eyes of 65 patients were recruited. Males (51 patients, 78.5%) outnumbered females (14 patients, 21.5%). The mean age was 46.4+/-10.0 years of age (28~69). By 1 month, mean BCVA improved from 0.47 to 0.37 (logarithm of the minimum angle of resolution) (P <0.01). This BCVA increased throughout 6 months. Subretinal fluid resolved partially or completely in 89.1% of the patients. Central macular thickness (CMT) decreased from 303.4 to 168.7 micrometer. The amount of change in CMT after PDT was correlated to the female sex and prePDT CMT. At 3 months after PDT, the amount of change in BCVA was significantly related to that of change of CMT (p <0.05). Adverse events were reported in 4 cases, however, most were mild. CONCLUSIONS: PDT was effective and safe for treating chronic CSC.

Clinical Phenotype of Peripheral Myelin Protein 22 Gene Duplication Abnormality in Charcot-Marie-Tooth Disease / 中国康复理论与实践

@#: Objective To analyse the characteristics of symptoms, signs and electrophysiology in Charcot-Marie-Tooth disease (CMT) with peripheral myelin protein 22 (PMP22) gene duplication abnormality.Methods 61 patients with CMT, 14 patients with family history and 47 sporadic patients were included. PMP22 gene duplication fragment was detected with PCR-double enzyme cutting assay. Medical history, signs were collected. Some of them received lumbar puncture and sural nerve pathological examination. Results The main clinical manifestation of the patients with PMP22 gene duplication abnormlity were asthenia of both lower extremities, especially dorsiflexion of foot, accompanied with distal atrophy (especially bilateral legs), some with upper extremity distal atrophy, ankle hyporeflexia or vanished and sensory disturbance. Protein in cerebrospinal fluid may increase, giant potential and conduction velocity of sensory and motor nerve decreased. Sural nerve biopsies revealed demyelination accompanied with axonal degeneration.Conclusion The main clinical manifestation of patients with PMP22 gene duplication abnormlity is charactered as the distal atrophy and asthenia of lower limbs, accompanied with sensory abnormlity. Myelin sheath and axonal alteration were found in electromyogram and peripheral nerve pathology.

Evaluación de la glándula mamaria y composición química de la leche en vacas primíparas mestizas lecheras en el preparto, hasta el quinto mes de la lactación / Mammary gland evaluation and milk chemical composition in crossbreed milking primaparas cpws before calving, up to the fifth month of lactation

La glándula mamaria y la composición química de los componentes de la leche en animales mestizos lecheros y su inter-relación con la aparición de problemas clínicos y productivos fueron evaluados en 10 vacas primíparas mestizas (Girolando), pertenecientes a una hacienda, situada en el municipio de Sabinópolis, estado de Minas Gerais, Brasil. Un examen clínico, la prueba de Califórnia Mastitis (CMT), el contaje celular somático (CCS) y la determinación de las concentraciones de los componentes de la leche a los días 17; 37; 54; 78; 110; 130 y 153 después del parto fueron realizados. En el examen clínico se detectaron lesiones de baja severidad en los pezones y al CMT, un 77,86% de los cuartos fueron negativos. El promédio y desviación estandar para el CCS fue de 167.857,1 (± 585.859,5) y para grasa, proteínas, lactosa y sólidos totales de 3,17 (± 0,74); 3,05 (± 0,29); 4,65 (± 0,22) y 10,38 (± 0,80) por ciento, respectivamente, valores estos semejantes a los reportados en la literatura. Se concluye que los resultados obtenidos fueron un buen indicador de la calidad de la leche producida y que la composición química de los componentes de la misma en vacas primíparas mestizas lecheras fue diferente del día 17 al 153 de la lactación.

To evaluate the mammary gland and the milk chemical composition in crossbreed milking primiparus cows and their interrelationship with clinical problems, 10 crossbreed primiparus cows (Girolando) from one farm, located in Sabinópolis Municipality, Minas Gerais State, Brasil were used to perform clinic evaluation of the mammary gland, California Mastitis Test (CMT), Somatic Cell Count (SCC) and determination of the concentration of the milk components, on days 17; 37; 54; 78; 110; 130 and 153 after calving. The clinical evaluation showed low percentage of injury in the teats, and the CMT was negative in 77.86% of the quarters. The mean values (±SD) for SCC were 167,857.1 (± 585,859.5) and for the milk components fat, protein, lactose and total solid 3.17 (± 0.74); 3.05 (± 0.29); 4.65 (±0.22) and 10.38 (± 0.80)%, respectively, alike values to reported in the literature. In conclusion, the results showed to be a good indicator of the milk quality and satisfactory to follow the milk chemical composition in crossbreed milking primiparus cows, which were different from day 17 to day 153 of lactation.

Perfil motivacional de los funcionarios de la empresa comercializadora de hierbas aromáticas Fresh Herbs: un estudio de caso / Motivational profile of the civil employees of the commerce company of aromatic grass Fresh Herbs: A case study

En la investigación se estableció el perfil motivacional de los funcionarios de la empresa comercializadora de hierbas aromáticas Fresh Herbs. Igualmente, se desarrolló con base en un diseño descriptivo correlacional de las puntuaciones de los quince factores motivacionales internos y externos, así como los medios preferidos para conseguir las retribuciones esperadas en el trabajo, del Cuestionario de Motivación para el Trabajo (CMT) elaborado por Toro (1985), con las variables sociodemográficas de los participantes: edad, género, cargo y antigüedad en la empresa. Por último, se administró el cuestionario a una muestra de 21 funcionarios directamente relacionados con la empresa. Los resultados evidenciaron que el factor motivacional más significativo entre los participantes es el salario, que presenta la media más alta, mientras que el contenido del trabajo es el factor con la media más baja. A partir de lo anterior se plantearon algunas recomendaciones que la organización puede implementar para mejorar la calidad de vida en el trabajo y además obtener beneficio para el personal en su desarrollo competitivo y en la producción.

In this investigation the motivational profile of the civil employees of the commerce company of aromatic grass Fresh Herbs was established. It was developed under a correlational descriptive design of the scores of the 15 internal and external motivational factors and the favorite averages to obtain the repayments waited for in the work, from the Questionnaire of Work Motivation (CMT- Cuestionario de Motivación para el trabajo) elaborated by Toro (1985), with the socio-demographic variables of the participants: age, gender, position and antiquity in the company. The questionnaire was administered to a sample of twenty civil employees who directly are related to the company. The results showed that pay is the most significant motivational factor between the participants, factor that displays highest average, whereas the content of the work is the factor with the lowest average. From this, some recommendations that the organization can implement to improve the quality of life in the work, also, to obtain benefits for the personnel in their competitive development and the production, were considered.

Diseño de microsondas mediante hibridación virtual para el estudio de variantes en los sitios REP-CMT1A / Microarray design using virtual hybridization to study variations in REP-CMT1A sites

Antecedentes: El gen PMP22 se encuentra duplicado en pacientes con Charcot-Marie-Tooth 1A (CMT1A); se ha descrito que el origen de la duplicación es el intercambio desigual de las cromátidas durante la meiosis entre dos regiones de 24 kb denominadas sitios REPCMT1A, encontrándose un REP proximal y un REP distal, los cuales tienen una homología de 98%. Dentro de cada uno de estos sitios existen zonas denominadas puntos calientes de mutación (hot spot), donde se presenta el mayor número de variantes y mutaciones que pudieran dar origen al intercambio desigual. El objetivo de este trabajo fue diseñar un conjunto de microsondas para elaborar un microarreglo con el cual pueda detectarse la presencia de variantes y puntos de mutación en los sitios REP-proximal y REP-distal CMT1A. Material y métodos A partir de las secuencias informadas de los REP distal y proximal, se delimitaron los sitios hot spot dentro de las regiones proximal y distal. Estas secuencias se alinearon, se empalmaron y se detectaron 12 zonas de diferencia secuencial. Resultados y conclusiones. Se diseñaron y analizaron 24 microsondas mediante el programa Genosensor Probe Designer. Las sondas podrán ser sintetizadas y utilizadas en un microarreglo que permita encontrar variaciones, puntos de mutación, y facilitar el diagnóstico de pacientes con CMT1A.

BACKGROUND: Gene PMP22 is duplicated in patients with CMT1A. Duplication is due to an unequal chromatid interchange during meiosis that takes place between two 24 Kb regions named REP-CMT1A proximal and distal sites. Homology is approximately 98%. Within each one of the sites we find zones termed hot spots where a greater number of variants and mutations could give origin to an unequal interchange. The aim of this study was to design a set of probes to create a microarray that could detect the presence of variants and mutation points in distal and proximal REP sites among patients with CMT1A. MATERIAL AND METHODS: With reported sequences of distal and proximal REPs, we determined hot spot sites within proximal and distal regions. These sequences were aligned and matched, hence 12 zones were detected. RESULTS AND CONCLUSIONS: Twenty four probes were designed and analyzed using the Genosensor Probe Designer program. Probes could be synthesized and used in a microarray that is able to find variations and mutation points and facilitates diagnosis of patients with CMT1A.

Intravitreal Triamcinolone Injection with or Without Bevacizumab for Diabetic Macular Edema

PURPOSE: To compare the effect of intravitreal triamcinolone injection with and without bevacizumab for diabetic macular edema. METHODS: Of 69 patients (69 eyes) diagnosed with diabetic macular edema without any history of other intraocular disease or intraocular operation, 45 eyes (45 patients) were injected with intravitreal triamcinolone (4 mg) and the remaining eyes (24 patients) were injected with triamcinolone (2 mg) and bevacizumab (1.25 mg). The visual acuity and central macular thickness of treated eyes from both groups was measured using OCT, and these measurements were compared between the two groups. RESULTS: There were no statistical differences between the two groups with respect to baseline data. Central macular thickness (CMT) was reduced in both groups, and BCVA improved in both groups. No significant differences were detected in changes in CMT or BCVA between the two groups. CONCLUSIONS: Intravitreal injection of triamcinolone had a beneficial effect on DME in terms of CMT reduction and BCVA improvement. Addition of three consecutive intravitreal bevacizumab injections, however, did not show any significant addictive effect during the follow-up period.

Importância da identificação das mutações do protooncogene RET e sua atuação no desenvolvimento dos diversos fenótipos das neoplasias endócrinas múltiplas tipo 2 / Importance of RET proto-oncogene mutations identification and its performance in thedevelopment of the multiples endocrines neoplasias type 2 several phenotypes

A hereditariedade autossômica dominante da neoplasia endócrina múltipla tipo 2 (NEM 2) relaciona-se à ativação do proto-oncogene RET, através de mutações missense. As mutações do RET são encontradas em 95% dos casos índices de NEM 2 e apresentam relação direta entre sua localização codon específica e os diversos fenótipos desenvolvidos, dentre eles, carcinoma medular datireóide, feocromocitoma e/ou hiperparatireoidismo. Baseando-se em análises bioquímicas e genéticas, é possível efetuar um diagnósticoprematuro, viabilizando a intervenção cirúrgica em tempo hábil. A periodicidade da monitorização bioquímica é ditada pelo fenótipopresente, pelas manifestações clínicas familiares e pelo genótipo RET. A recomendação da análise genética deve ser feita a todos indivíduos afetados e também a seus ascendentes e descendentes diretos, caso alguma mutação esteja presente; permitindo identificar os portadores de mutações RET, previamente ao início da sintomatologia. Neste trabalho, serão discutidos os aspectos molecularesdos diversos fenótipos da NEM 2, bem como a importância da identificação genotípica do proto-oncogene RET e sua interação com os testes bioquímicos visando o diagnóstico precoce, prevenção, monitorização, screening familiar e, portanto, maior sobrevidado paciente.

The dominant autossomic hereditarity of the multiple endocrine neoplasia type 2 (MEN 2) is related to RET proto-oncogene activation, through mutations missense. RET mutations are found in 95% of MEN 2 index cases and present direct relation between its specific localization codon and the diverse developed phenotypes, among them, medullary thyroid carcinoma, pheochromocytoma and/or hyperparathyroidism. Being based on biochemists and genetics analyses, it is possible to perform a premature diagnosis, making possible a surgical intervention in the right time. The biochemist monitoring regularity is determined by present phenotype, the familiar clinical manifestations and RET genotype. The recommendation of the genetic analysis must be made to all affected individuals and also their ascendants and descendants, in case some mutation is present, allowing to identify the RET mutations carriers previously to the beginning of the symptomatology. In this work, the molecular aspects of MEN 2 diverse phenotypes will be discussed, as well as the importance of the RET proto-oncogene genotypic identification and its interaction with the biochemists tests aiming the precocious diagnosis, prevention, monitoring, familiar screening e, therefore, the patient’s longer survival.

Myelin Protein Zero (MPZ) Gene Analysis in Korean Patients with Charcot-Marie-Tooth: Clinical and Electrophysiological Characteristics

BACKGROUND: Mutations in the myelin protein zero (MPZ) gene, which is located on chromosome 1q21-q22, is present in Charcot-Marie-Tooth disease type 1B (CMT1B), CMT type 2, Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. It is proposed that the nature and position of the MPZ mutations mainly determine the axonal and demyelinating phenotypes. In this study, we investigated to determine the clinical and electrophysiological characteristics in CMT patients with mutations in the MPZ gene. METHODS: We examined mutations of MPZ, in 62 Korean families diagnosed as having CMT disease. Mutations were confirmed by through both strands sequencing. Nerve conduction studies were carried out in CMT patients having each mutation. RESULTS: The three mutations (Asp118Asn, c.449-1G>T (3'-splice site), Lys236Glu), determined to be novel, were not detected in the 105 healthy controls. The mutation frequency of MPZ was similar as those found in several European populations. Electrophysiologically, 3'-splice site mutation (449-1G>T) showed the conduction block and moderate slowing nerve conduction velocities like that of CMT1B. However, the other mutations represented the electrophysiological features of CMT type 2. CONCLUSIONS: We report the identified three novel MPZ mutations in Korean CMT patients and the phenotype-genotype correlations based on nerve conduction studies.