Short communication: Chemical composition, fatty acid composition, and sensory characteristics of Chanco cheese from dairy cows supplemented with soybean and hydrogenated vegetable oils.

Lipid supplements can be used to alter fatty acid (FA) profiles of dairy products. For Chanco cheese, however, little information is available concerning effects of lipid supplements on sensorial properties. The objective of this study was to examine effects of supplementation of dairy cow diets with soybean (SO) and hydrogenated vegetable (HVO) oils on chemical and FA composition of milk and cheese and sensory characteristics of cheese. Nine multiparous Holstein cows averaging 169±24d in milk at the beginning of the study were used in a replicated (n=3) 3×3 Latin square design that included 3 periods of 21d. All cows received a basal diet formulated with a 56:44 forage:concentrate ratio. Dietary treatments consisted of the basal diet (control; no fat supplement), and the basal diet supplemented with SO (unrefined oil; 500g/d per cow) and HVO (manufactured from palm oil; 500g/d per cow). Milk fat yield was lower with HVO compared with control and SO. Cheese chemical composition and sensory profile were not affected by dietary treatment. Vaccenic (C18:1 trans-11) and oleic (C18:1 cis-9) acids were higher for SO than for control and HVO. Compared with control and HVO, SO decreased saturated FA and increased monounsaturated FA. The thrombogenic index of milk and cheese produced when cows were fed SO was lower than when cows were fed on control and HVO. The outcome of this study showed that, compared with control and HVO, supplementing dairy cow diets with SO improves milk and cheese FA profile without detrimental effects on the chemical composition of milk and cheese and the sensory characteristics of cheese.

Sublocalisation of the X breakpoint in the translocation (X; 18)(p11.2; q11.2) primary change in synovial sarcomas.

A specific translocation between chromosomes X and 18 was identified in synovial sarcomas. From a girl with synovial sarcoma, we isolated two clones with t(X; 18)(p11.2; q11.2) and which had lost the normal X chromosome. Southern blot analysis of DNA from the tumor, the patient and her parents demonstrated that the normal X chromosome, lost in the tumor, was the paternal one. A somatic hybrid cell line was established by fusing tumor cells (after passages on athymic mice) to an HPRT deficient hamster cell line. By cytogenetic, in situ hybridization and molecular analysis, it was found to contain the derivative (X) chromosome in the absence of the der (18) chromosome. To determine the position of the breakpoint on the X chromosome, Southern blots of DNA from this hybrid were hybridized to [32P]-labelled X chromosome probes. DXS146 and DXS255 were retained in the hybrid cell line whereas GAPDP1, the ARAF1 and TIMP proto-oncogenes were not present, indicating that the breakpoint lies proximal to GAPD1, ARAF1 and TIMP and distal to DXS255 and DXS146. Results obtained from other authors are compared. Further studies will be necessary to determine the extent of variation of the breakpoint in different tumors.

Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis.

The Coffin-Lowry syndrome (McKusick No. 30360) is a rare genetically transmitted disorder characterized by severe mental retardation, "coarse" facial appearance, thick soft skin, tapering fingers, and progressive skeletal abnormalities. X-linked inheritance is implied since the males are severely affected with variably mild manifestations in carrier women. We have performed a linkage analysis with many X-linked RFLP markers in 4 families. Positive two-point lod scores were obtained with DXS28 (z(theta) = 2.00 at theta = 0.05) and DXS41 (z(theta) = 1.26 at theta = 0.10). We performed a 5-point linkage analysis using the LINKMAP program assuming that DXS16 and DXS43 are a single locus and using the following fixed map (distances in centimorgans): DXS85 - 18cM - (DXS16, DXS43) - 13cM - DXS41 - 5cM -DXS28. This gave a multipoint lod score of 3.41 for a localisation in Xp22.2-p22.1, between DXS43 and DXS41.

Embolization of segments of the circle of Willis and adjacent branches for management of certain inoperable cerebral arteriovenous malformations.

Most large cerebral arteriovenous malformations (AVM's) in the territories of the penetrating arteries arising from the circle of Willis, including the proximal anterior, middle, and posterior cerebral arteries, have been considered untreatable. However, the pattern of collateral circulation which accompanies these lesions presents the possibility of completely occluding certain segments of the circle of Willis and adjacent major branches without producing infarction distally in the cerebral hemisphere or in the critical areas occupied by the AVM itself. The ensuing reduction of arterial pressure within the AVM may reduce the likelihood of hemorrhage or progressive enlargement. Four patients in whom this was accomplished in whole or in part by embolization are described. In one patient, infarction did ensure but the potential for collateral circulation had been restricted by the passage of emboli into the pericallosal artery. In the others, angiographic filling of the lesion was considerably reduced without worsening of their neurological deficits. One patient had recovery of neurological loss following the procedure, and another was slightly improved. Over follow-up periods of up to 28 months there have been no recurrent hemorrhages or further progression of neurological deficits. However, final assessment of the efficacy of this procedure will require longer follow-up intervals and additional patients.

Subarachnoid hemorrhage secondary to an aneurysm of the ascending pharyngeal artery: case report.

The authors report a patient presenting with subarachnoid hemorrhage (SAH) secondary to one of two saccular aneurysms arising from the dural branches of the ascending pharyngeal artery. The aneurysms were obliterated by surgery without complications. Satisfactory visualization of the aneurysms required selective external carotid angiography with magnification and subtraction. This case emphasized the need to include the external carotid system in conventional four-vessel angiography for evaluation of patients with SAH.

Vertebral hydatid disease. Clinical experience with 27 cases.

The authors present 27 cases of vertebral hydatidosis with clinical and laboratory findings. The most frequent location of the lesion was the lumbar spine. Principal neurological symptoms were paraparesis, sphincter disturbances, paresthesia and paraplegia. The average number of surgical interventions per patient was 2.6; the most common procedure was laminectomy with extirpation of the cyst and surgical toilet. The results of surgical treatment were generally good in the immediate postoperative period, but long-term results were poor.

Condición de salud de pacientes diabéticos y su satisfacción con el tratamiento para la enfermedad / Health condition of type 2 diabetic patients and their satisfaction regarding disease treatment

La diabetes mellitus (DM) va en aumento en nuestro país, con alta prevalencia de complicaciones especialmente por mal control metabólico. Objetivo: evaluar asociación de condición de salud, variables sociodemográficas y años de diagnóstico con satisfacción del paciente con características del tratamiento de diabetes. Material y método: estudio de prevalencia en 340 pacientes de 1.100 usuarios DM2 controlados en Programa Cardiovascular de un Centro de Salud Familiar (CESFAM) de Macul, Región Metropolitana, Chile, previo consentimiento informado. Muestreo aleatorio simple (confianza 95 por ciento, merma 10 por ciento). Recolección de información en CESFAM y/o visita domiciliaria por investigadoras e internas de enfermería entrenadas. Satisfacción del paciente, medida con subescala satisfacción del cuestionario Diabetes Quality of Life (EsDQOL). Análisis con estadística descriptiva, Chi2, Odd Ratios, IC (95 por ciento). Resultados: Población mayoritariamente adulta mayor, femenina, promedio años estudio 8,7. El 42,6 por ciento tiene diagnóstico de DM hace más de 10 años. Refieren mayor satisfacción con: tratamiento medicamentoso, controles recibidos, vida en general. Existe mayor insatisfacción con: tiempo ocupado en ejercicios, cómo duerme, vida sexual. Satisfacción con tratamiento medicamentoso se asocia a compensación de diabetes (p= 0,026). Pacientes insatisfechos con tratamiento tienen 2 veces más riesgo de descompensación que los satisfechos, IC [1,08-3,7]. Insatisfacción con tiempo dedicado a enfermedad, controles, tiempo ocupado en controles y ejercicio indicado se asocian a complicaciones (p < 0,05). Conclusión: Insatisfacción con características del tratamiento de DM2 se asocia mayormente a complicaciones que a compensación de DM, pacientes insatisfechos tienen más riesgo de complicaciones que los satisfechos.

Diabetes Mellitus is increasing in our country, with a high prevalence of complications mainly because of poor metabolic control. Objectives: to evaluate association of health condition, demographic variables, and years since diagnosis with patient satisfaction regarding disease treatment. Methodology: prevalence study, 340 patient taken out of a population of 1.100 patients attended in the Cardiovascular Program of an outpatient clinic in Macul district. Informed consent was requested. Simple randomized sample (CI 95 percent, loss 10 percent). Data collected in the outpatient clinic or through home visits done by researchers or trained senior nursing students. Patient satisfaction was measured by the satisfaction subscale of the Diabetes Quality of Life Questionnaire (EsDQOL). Analysis: descriptive statistics, Chi2, Odds Ratios, CI (95 percent). Results: Population of mainly older adults, female, average years of school attendance 8.7. 42.6 percent has been diagnosed since more than 10 years. They refer greater satisfaction with: pharmacologic treatment, care received in outpatient visits, life in general. There exists more dissatisfaction with: time spent in exercise, sleep, sexual life. Satisfaction with pharmacologic treatment has association with diabetes compensation (p= 0.026). Patients dissatisfed with treatment have 2 times more risk of poor metabolic control than satisfed patients, IC[1.08-3.7]. Dissatisfaction with time spent in the disease, outpatient visits, and time spent in exercises, are associated with complications (p < 0.05). Conclusion: Dissatisfaction is more associated to complications than to poor metabolic control. Patient dissatisfed have more risk of complications than those satisfed.

Condición de salud y cumplimiento de la guía clínica chilena para el cuidado del paciente diabético tipo / Health condition and compliance of the chilean clinical guideline for type 2 diabetic patients

Objetivo: Identificar condición de salud (CS) de los pacientes diabéticos tipo 2. Medir el cumplimiento de las atenciones de salud según guía clínica. Identificar variables asociadas a CS. Material y método: estudio de pre-valencia, abril 2010. Población: 1.100 pacientes DM2 controlados en Programa Cardiovascular, considerando criterios de inclusión, exclusión, consentimiento informado. Muestra: 340 por aleatorización simple (confianza 95 por ciento merma 10 por ciento). Recolección de datos realizada en CESFAM o visita domiciliaria por investigadoras e internas de enfermería entrenadas, con encuesta validada, exámenes, plantilla para información y ficha clínica. Para el análisis se utilizó estadística descriptiva, Chi2, Odds Ratios con IC (95 por ciento). Resultados: CS: descompensados (HbA1c>7 por ciento) 56.5 por ciento, patologías agregadas 97.9 por ciento, complicaciones 25 por ciento, mayor frecuencia retinopatía diabética. hombres mayor riesgo de amputación (p=0.003). Presión arterial >130/85 mm.hg. 58.2 por ciento, sobrepeso-obesidad 71.2 por ciento, autovalencia (adultos mayores) 23.1 por ciento. Cumplimiento recomendaciones ministeriales: controles/profesionales/año a lo menos cinco 41.5 por ciento, CESFAM adapta esta recomendación. Evaluación anual de: pie diabético 78 por ciento, fondo ojo 41,6 por ciento. Indicación régimen (nutricionista) último control 80 por ciento. Cinco controles profesionales/ año o más es protector de compensación de diabetes, IC (0.62-0.95), resto de recomendaciones y adaptación de éstas no se asocian a condición de salud (p > 0.05). Conclusiones: Los componentes de condición de salud están en general por sobre lo esperado. En ningún paciente se cumple en un 100 por ciento las recomendaciones de la guía clínica. Cinco o más controles profesionales anuales se asocian a compensación de la diabetes. Importante cumplir recomendaciones para mejorar control metabólico y disminuir/retrasar complicaciones para una mejor calidad de vida de pacientes.

Objectives: To determine compliance with Chilean clinical guideline and to measure their impact through evaluation of patient’s health condition (HC), to determine associations. Methods: prevalence study, April 2010. Population: 1,100 diabetic patients controlled in the Cardiovascular Program, considering criteria of inclusion, exclusion, informed consent. Sample: 340 randomized patients (Confidence level: 95 percent; Loss: 10 percent). Information was collected in an outpatient clinic and through home visits performed by researchers and trained senior nursing students, with a validated survey, exams, staff for file information. For the purposes of the analysis, descriptive statistics was used, Chi2, Odds Ratios with CI (95 percent). Results: HC: decompensation (HbA1c>7 percent 56.5 percent derived illnesses 97.9 percent, complications 25 percent, greater frequency of diabetic retinopathy. Males with greater risk of amputation (p=0.003). Blood pressure >130/85 mm. hg. 58.2 percent, overweight-obesity 71.2 percent, self-care (older adults) 23.1 percent. Compliance with clinical guideline: controls/professionals/year at least five 41.5 percent, CESFAM adapts this recommendation. Annual evaluation of: diabetic foot 78 percent, fundoscopy 41.6 percent. Regime indication (dietician) last control 80 percent. Five professional controls/year or more protect compensation for diabetes, IC (0.62-0.95), other recommendations and adaptation of recommendations are not associated with health status (p > 0.05). Conclusions: components of hC are better than expected. In none of the patients are the recommendations of the clinical guideline fulfilled in a 100 percent. 5 or more annual outpatient visits are associated to good metabolic control. Compliance with clinical guideline recommendations is important to improve metabolic control, to lessen complications and to improve patient’s quality of life.

Achilles tendinitis in ballet dancers.

Overuse injuries of tendons are known to occur in persons whose activities submit the tendon to excessive stress. Classical ballet dancers performing en pointe, demie point, or plié exert forces that, although normal in magnitude, are increased in frequency, thus overusing the Achilles tendon. In the present study all cases of Achilles tendinopathy seen in a period of three years in three ballet companies were reviewed by a special orthopedic clinic. The cause, whether by abnormal tension or incorrect use, development, and progression to chronic tendinopathy, as well as measures to prevent it, were analyzed in 19 cases. The methods of treatment, including conservative treatment with rest and refraining from dancing, local treatment such as ice and adhesive strapping, antiinflammatory drugs, local injections, thermotherapy, and laser therapy, were compared, and the time of recovery and ability to resume dancing were evaluated. Two cases required surgical treatment to subside, and the patients had to retire from professional dancing. The roentgenographic diagnosis of stage and progression of the tendinopathy is emphasized as a valuable accessory sign. The similarity in lesions between Achilles and patellar tendon problems was observed and confirmed.

A case of Alagille's syndrome with translocation (4;14) (q21;q21).

This paper reports a case of Alagille's syndrome, in association with a translocation 46,XY,t(4;14)(q21;21). The possible relationship between this autosomal dominant syndrome and the apparently balanced chromosomal rearrangement is discussed.

[Balanced X-autosomal translocation and mental retardation. Mapping mental retardation linked to X (excluding fragile X)]. / Translocations X-autosomes équilibrées et retard mental. Contribution à la cartographie des retards mentaux liés à l'X (à l'exclusion de l'X-fra).

From personal observations and reported cases of translocation X-Autosome, a study of the breakpoint showed that Xp11 is more frequently associated to mental retardation. This finding is in agreement with linkage analysis in families with X-linked mental retardation non X-fra.

[Clinical and biological studies of 14 cases of the Prader-Labhart-Willi syndrome]. / Etudes clinique et biologique de 14 cas de syndrome de Prader-Labhart-Willi.

Clinical and cytogenetic studies are performed on 14 patients with PWS including endocrinological investigations, as coagulation factor XI activity and pigmentation studies. Recent hypothesis from molecular analysis are discussed.

Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations.

A family carrying the X-linked gene for hypohidrotic ectodermal dysplasia (hereditary ectodermal polydysplasia or Christ-Siemens-Touraine syndrome) over three generations was monitored for more than 15 years. Two prenatal diagnoses were carried out by fetoscopy on skin biopsies. Polymorphic probes were used in the segregation analysis of the Xq11-21 region carried out on 30 members of the family. Current screening possibilities for the carriers and prenatal diagnosis are discussed.

[Unexpected chromosomal abnormalities in prenatal diagnosis. 4 case reports with preservation of the pregnancy]. / Remaniements chromosomiques inattendus en diagnostic prénatal. A propos de quatre cas avec conservation de la grossesse.

Four unexpected karyotypes were found in prenatal diagnosis: 47,XXX; 47,XXY; double reciprocal translocation; Yq-. Supplementary biological studies (including specific Y-DNA probes) are carried out in order to help in the parents' decision. No induced abortion was performed. The children are described after delivery.

[Prenatal diagnosis of triploidy. II. Biological studies]. / Diagnostic prénatal de triploïdie. II. Etudes biologiques.

In three cases of triploïdy, the origin of extra haploid set is found by chromosomal and HLA markers. It does not confirm a relationship between paternal origin and partial hydatidiform mole. In case of prenatally diagnosed triploïdy, a protocol for biological studies is suggested.

Interstitial deletion of the long arm of chromosome 6.

A de novo interstitial deletion of 6q21 was observed in a male baby with moderate microcephaly, facial dysmorphism, and psychomotor retardation. In situ hybridization with a c-myb probe showed that the gene was conserved on the deleted chromosome.

Coffin-Lowry syndrome: a multicenter study.

The Coffin-Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The occurrence of severe manifestations in males, with no instance of male-to-male transmission, suggests an X-linked inheritance. The paper describes seven families from five European Centers.