Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.

Maple syrup urine disease (MSUD) is a rare metabolic disorder for which the newborn screening (NBS) is possible but it has not been yet implemented for most Spanish regions. In the present study, we assess the clinical features and outcome of 14 MSUD Spanish patients with similar treatment protocol diagnosed either by NBS or by clinical symptoms. Eight patients were detected by NBS, four classic and four moderate MSUD. The average age at detection was 4.6 days, the mean plasmatic concentration of leucine at diagnosis was 1807 µM; the average number of days with leucine >1000 µM was 0.7 (0-4) and the mean number of total hospitalizations was 1.6 (0-5). Mean follow-up time was 70 months. They had good evolution: all remain asymptomatic, but 2 patients have attention deficit and hyperactivity disorder. Six patients with late diagnosis of classic MSUD were followed during 41 months. All presented with acute encephalopathy during the first month of life, mean leucine levels of 2355 µM, mean number of days with leucine >1000 µM of 6.6 (1-13) and mean number of total hospitalizations of 5.3 (4-7). Only two patients have a psychomotor development index in the lower limit (80 and 83). For all patients a good genotype-phenotype correlation was found and four novel mutations were identified: p.A311H, p.T84S, p.T397L, pL398P. Our study support that NBS improves prognosis of MSUD patients. But early diagnosis and an aggressive treatment together with a close monitoring of leucine levels improve neurological evolution in MSUD patients, even for those not detected by NBS.

[Multiple retinal pigment epithelial detachments: a case report]. / Múltiples desprendimientos de epitelio pigmentario idiopático: a propósito de un caso.

CASE REPORT: A 47 year-old female who presented with a bilateral idiopathic multiple pigment epithelial detachment (PED) in a routine visit. This pathology is shown as a rare clinical manifestation, where the outcome is resolution of localized atrophy of the pigment epithelium, with a good functional prognosis. DISCUSSION: PED is a common clinical manifestation in several chorioretinal diseases, particularly in macular degeneration associated with age. Idiopathic PED can be considered as a kind of central type II serous chorioretinopathy. Fundus fluorescein angiography (FFA) and optical coherence tomography (OCT) are complementary tests to study the number, extension, and nature of these PED.

[Recommendations and management of type I hereditary or hepatorenal tyrosinemia]. / Recomendaciones y manejo de la tirosinemia hereditaria Tipo I o Tirosinemia hepatorrenal.

Tyrosinemia type I is a potentially lethal disease if not diagnosed and treated properly. Diagnostic and therapeutic advances in recent years have significantly improved the prognosis for these patients. It is therefore important that the pediatrician has a clinical practice guideline with recommendations for diagnosis and treatment of this disease that leads to the appropriate intervention.

Coordinación asistencial entre atención primaria y especializada. Satisfacción con el proyecto especialista consultor / Coordination between primary and specialist care. Satisfaction with the consulting specialist project

Conocer la satisfacción de los médicos con el proyecto especialista consultor en el Área 7, y su opinión respecto a éste. Explorar la opinión de estos médicos sobre los problemas y soluciones en la relación entre atención primaria (AP) y atención especializada (AE). Material y métodos: Estudio descriptivo transversal mediante cuestionario autoadministrado. Población de estudio: Médicos de AP del Área 7 de Madrid (n=304). Variables Demográficas y profesionales, relacionadas con la satisfacción con el desarrollo del proyecto, relacionadas con la percepción general del proyecto, el beneficio potencial para los pacientes y con la opinión acerca de las dificultades en la relación AP-AE y las posibles soluciones. Resultados: La tasa de respuesta fue del 56% (contestaron el cuestionario 170 médicos). Respecto a la satisfacción con el proyecto, la puntuación global fue de 8,9 sobre 10. Al 83% de los médicos de AP les resultó fácil el contacto con el especialista de referencia, y el 90% refirió que las cuestiones planteadas se habían resuelto de forma satisfactoria. La herramienta peor valorada para establecer comunicación fue el teléfono. El 27% de los médicos de AP refirió registrar las actividades del proyecto siempre y el 39%, casi siempre. Resultados: En cuanto a la opinión sobre el proyecto, los encuestados reconocieron el mayor beneficio potencial para el proceso diagnóstico y valoraron la necesidad del proyecto en el área con un 9, su utilidad con 9,1 y la prioridad con un 8,7. El 74% de los médicos opinó que sería de interés incorporar un consultor de otra especialidad. Resultados: Los problemas de coordinación AP-AE priorizados fueron la falta de comunicación y diálogo y la masificación de la asistencia. La solución más valorada fue la historia única informatizada (AU)

Objective: To find out the level of satisfaction and opinions of doctors on the specialist consultant project (SCP) in Area 7. To report on these opinions on the difficulties and possible solutions in inter-relationships between of primary health care and specialised care. Material and Methods: Transversal descriptive study using a self-administered questionnaire. Study population: Doctors working in a primary health care district of Madrid (Area 7). Variables: Demographic and professional variables, including their satisfaction after the implementation of the SCP, their general opinion of SCP, potential benefits and their opinions on the difficulties and possible solutions in interrelationships between primary health care and specialised care. Results: A total of 170 (56%) doctors working in primary health care responded. As regards satisfaction with the SCP, the overall score in the evaluation was 8.9, (0 to 10). The majority of primary health care doctors (83%) found it easy to contact the specialist and 90% said that problems were solved satisfactorily. The telephone was the worst communication tool. Only 27% of primary health care doctors said they always register SCP activities, and 39% register them almost always. Results: They thought that the most useful part of this project was the potential benefit on diagnosis. The SCP need score was 9, SCP usefulness 9.1 and priority 8.7. A large majority (74%) of primary health care doctors thought it would be of great interest to incorporate consultants from other specialisations. Results: The main coordination problems found where the lack of communication, and overcrowding. The most valued solution to these problems is the computerised clinical history (AU)

[Coordination between primary and specialist care. Satisfaction with the consulting specialist project]. / Coordinación asistencial entre atención primaria y especializada. Satisfacción con el proyecto especialista consultor.

OBJECTIVE: To find out the level of satisfaction and opinions of doctors on the specialist consultant project (SCP) in Area 7. To report on these opinions on the difficulties and possible solutions in inter-relationships between of primary health care and specialised care. MATERIAL AND METHODS: Transversal descriptive study using a self-administered questionnaire. STUDY POPULATION: Doctors working in a primary health care district of Madrid (Area 7). VARIABLES: Demographic and professional variables, including their satisfaction after the implementation of the SCP, their general opinion of SCP, potential benefits and their opinions on the difficulties and possible solutions in interrelationships between primary health care and specialised care. RESULTS: A total of 170 (56%) doctors working in primary health care responded. As regards satisfaction with the SCP, the overall score in the evaluation was 8.9, (0 to 10). The majority of primary health care doctors (83%) found it easy to contact the specialist and 90% said that problems were solved satisfactorily. The telephone was the worst communication tool. Only 27% of primary health care doctors said they always register SCP activities, and 39% register them almost always. They thought that the most useful part of this project was the potential benefit on diagnosis. The SCP need score was 9, SCP usefulness 9.1 and priority 8.7. A large majority (74%) of primary health care doctors thought it would be of great interest to incorporate consultants from other specialisations. The main coordination problems found where the lack of communication, and overcrowding. The most valued solution to these problems is the computerised clinical history. CONCLUSIONS: Doctors are very satisfied with this project. They considered the project to be very useful, necessary and a priority, with high potential benefit in several areas of patient care. As quality improvement areas we stress the importance of continuing to promote SCP, of adequate telephone communications and to assess a new easy to fill-in register system.

[Relationship between central corneal thickness, intraocular pressure and severity of glaucomatous visual field loss]. / Correlación entre grosor corneal central, presión intraocular y afectación glaucomatosa del campo visual.

OBJECTIVE: to determine central corneal thickness in normal subjects, glaucomatous patients and ocular hypertension patients, to evaluate if the central corneal thickness is related to the presence of glaucoma or ocular hypertension. Furthermore, we aim to verify the relationship between central corneal thickness and severity of glaucomatous visual field loss. METHODS: comparative study including 150 eyes of 150 subjects, separated into three groups: normal (47 eyes), ocular hypertension (35) and glaucomatous (68). This last group was subdividided in three subgroups depending on the Hodapp-Parrish-Anderson criteria for scoring Humphrey visual field defects (initial, moderate and advanced). We evaluated the visual field, the central corneal thickness measured by pachymetry and the intraocular pressure measured by Goldmann tonometry. Results were analysed using the Student's t-test for normally distributed independent samples. RESULTS: the central corneal thickness was 526+/-25 microns (mean +/-standard deviation (SD)) in glaucomatous patients, 560+/-27 microns in ocular hypertension patients, and 556+/-27 microns in the normal group. Statistical significance could be found between the glaucomatous group of patients and the other groups (p< 0.01), but not between the ocular hypertension group and normal subjects (p= 0.4). The comparison between central corneal thickness of the subgroup with advanced damage of the visual field and the two other subgroups was also statistically significant (p< 0.01), but not between the subgroups of initial damage and moderate damage (p= 0.7). CONCLUSIONS: the central corneal thickness in glaucomatous patients is lower than in normal subjects and in ocular hypertension patients. Patients classified as having advanced damage in their visual field have significantly lower central corneal thickness measurements than patients classified as having initial or moderate damage.

Correlación entre grosor corneal central, presión intraocular y afectación glaucomatosa del campo visual / Relationship between central corneal thickness, intraocular pressure and severity of glaucomatous visual field loss

Objetivo: Determinar el grosor corneal central(GCC) en sujetos normales, pacientes glaucomatosose hipertensos oculares, valorando si el GCC estáasociado con la presencia de glaucoma o de hipertensiónocular. Por otra parte, comprobar la correlaciónentre el GCC y el estadio de afectación delcampo visual (CV).Método: Se realizó un estudio de casos y controles,con 150 ojos de 150 pacientes, divididos en tresgrupos: normales (47 ojos), hipertensos oculares(35) y glaucomatosos (68). A su vez, se establecierontres subgrupos dentro de los sujetos glaucomatosos,dependiendo de la afectación del CV según laclasificación de Hodapp de defectos del campovisual (inicial, moderada y avanzada). Se valoró lacampimetría, la medida del GCC mediante paquimetríaultrasónica y de la PIO con tonómetro deaplanación de Goldmman (TAG). Se aplicó el testde hipótesis t-Student para muestras independientesque siguen una distribución normal.Resultados: La media del GCC en los pacientesglaucomatosos era 526 micras Desviación Estándar (DE) 25, 560 DE 27 en hipertensos oculares y 556DE 27 en los sujetos normales, con diferencias significativasentre el grupo de pacientes glaucomatososy los otros dos (p< 0,01), pero no entre el grupode hipertensos oculares y el de sujetos normales(p= 0,45). En los sujetos glaucomatosos, se encontrarondiferencias con significación estadística entreel GCC del subgrupo con afectación avanzada delCV y los de afectación inicial y moderada(p< 0,01), pero no entre estos dos últimos (p= 0,7).Conclusiones: El GCC en pacientes glaucomatososes menor que en los sujetos controles e hipertensosoculares. Los pacientes glaucomatosos con pérdidade CV avanzada cursan con córneas más delgadasque aquéllos con alteración campimétrica inicial o moderada(AU)

Objective: to determine central corneal thickness innormal subjects, glaucomatous patients and ocularhypertension patients, to evaluate if the central cornealthickness is related to the presence of glaucomaor ocular hypertension. Furthermore, we aim toverify the relationship between central corneal thicknessand severity of glaucomatous visual field loss.Methods: comparative study including 150 eyes of150 subjects, separated into three groups: normal(47 eyes), ocular hypertension (35) and glaucomatous(68). This last group was subdividided in threesubgroups depending on the Hodapp-Parrish-Anderson criteria for scoring Humphrey visual fielddefects (initial, moderate and advanced). We evaluatedthe visual field, the central corneal thicknessmeasured by pachymetry and the intraocular pressuremeasured by Goldmann tonometry. Resultswere analysed using the Student’s t-test for normallydistributed independent samples.Results: the central corneal thickness was 526±25microns (mean ±standard deviation (SD)) in glaucomatouspatients, 560±27 microns in ocular hypertension patients, and 556±27 microns in thenormal group. Statistical significance could befound between the glaucomatous group of patientsand the other groups (p< 0.01), but not between theocular hypertension group and normal subjects (p=0.4). The comparison between central cornealthickness of the subgroup with advanced damage ofthe visual field and the two other subgroups wasalso statistically significant (p< 0.01), but not betweenthe subgroups of initial damage and moderatedamage (p= 0.7).Conclusions: the central corneal thickness in glaucomatouspatients is lower than in normal subjectsand in ocular hypertension patients. Patients classifiedas having advanced damage in their visual fieldhave significantly lower central corneal thicknessmeasurements than patients classified as havinginitial or moderate damage(AU)

SSR markers for Quercus suber tree identification and embryo analysis.

Three Quercus simple sequence repeat (SSR) markers were amplified by polymerase chain reaction (PCR) from nuclear DNA extracts of trees and in vitro-induced haploid embryos from anther cultures of Quercus suber L. These markers were sufficiently polymorphic to identify 10 of 12 trees located in two Spanish natural areas. The same loci have been analyzed in anther-derived haploid embryos showing the parental tree allele segregation. All the alleles were present in the haploid progeny. The presence of diverse alleles in embryos derived from the same anther demonstrated that they were induced on multiple microspores or pollen grains and they were not clonally propagated. Also, diploid cultures and mixtures of haploid-diploid tissues were obtained. The origin of such cultures, either somatic or gametic, was elucidated by SSR markers. All the embryos showed only one allele, corroborating a haploid origin. Allelic composition of the haploid progeny permitted parental identification among all analyzed trees.

Synthesis, accumulation and hydrolysis of trehalose during growth of peanut rhizobia in hyperosmotic media.

We examined and compared the activities of synthetic and hydrolytic enzymes involved in trehalose metabolism, in three peanut rhizobia strains grown in control, hypersaline, and non-ionic hyperosmotic media. Results indicated that the effects of hyperosmolarity on the synthesis and the degradation of the disaccharide were diverse. In the salt-tolerant slow-growing strain Bradyrhizobium sp. ATCC 10317, we observed increased synthesis and accumulation of trehalose under hyperosmolarity imposed by either NaCl or PEG-8000. In the other two peanut rhizobia strains, the disaccharide level did not change under hypersalinity. In the salt-sensitive slow-growing strain Bradyrhizobium sp. USDA 3187, intracellular trehalose diminished in late stationary phase-cells grown with PEG, this reduction was accompanied by both an increased activity of synthetic enzymes and a decreased activity of trehalase. In the salt-tolerant fast-growing strain Rhizobium sp. TAL 1000, we also observed a reduction of intracellular trehalose under PEG-mediated growth, this decrease was early and transiently accompanied by an enhancement of trehalase activity, afterwards, the activity of synthetic enzymes augmented.

Interação cardiopulmonar durante a ventilação mecânica / Cardiopulmonary interaction during mechanical ventilation

As interaçöes cardiopulmonares durante a ventilação mecânica são complexas e dependem do estado volêmico do paciente (hipovolemia, normovolemia e hipervolemia), das funçöes dos ventrículos direito e esquerdo, assim como de sua pós-carga, do estado funcional dos pulmöes (normal, restritivo, ou obstrutivo) e da complacência do sistema toracoabdominal. Nos estados hipovolêmicos, a adição de pressão positiva intratorácica prporciona diminuição do retorno venoso e conseqüente dominuição do débito cardíaco. Esse efeito encontr-se exacerbado nas disfunçöes do ventrículo direito presentes no tromboembolismo pulmonar e na doença pulmonar obstrutiva crônica e, em menor grau, do ventrículo esquerdo. Nos estados de hipervolemia, a pré-carga de ambos os ventrículos está aumentada. Quando a pressão capilar pulmonar ultrapassa 18 mmHg em pulmöes normais ocorre o extravasamento de líquido para o interstício pulmonar e interior dos alvéolos. Esse efeito está exacerbado nas alteraçöes de permeabilidade da membrana alveolocapilar (síndrome do desconforto respiratório agudo). Nos estados hipervolêmicos, a adição de pressão intratorácica positiva não costuma ocasionar a diminuição do débito cardíaco. Nas disfunçöes de ventrículo esquerdo com pressão capilar acima de 18 mmHg, a adição de pressão intratorácica positiva mantém os alvéolos abertos, melhorando a oxigenação e diminuição a pós-carga do ventrículo esquerdo, o que proporciona a melhora do desempenho ventricular. Assim observando-se e compreendendo-se essas complexas interaçöes cardiopulmonares, poderemos otimizar as condiçöes cardiorrespiratórias nas diferentes situaçöes clínicas.

[Knowledge and use of contraceptive methods by the female population in a health-care district]. / Conocimiento y uso de métodos anticonceptivos por la población femenina de una zona de salud.

BACKGROUND: The use of contraceptives is related to factors including those of a demographic, social, economic, educational and ideological nature. The purpose of our study is that of ascertaining with what contraceptive methods the women of child-bearing age assigned to a given health care center are familiar, in addition to prevalence of the use thereof. METHODS: Based on the health care card listing, 389 of the 5800 women of child-bearing age (15-45 years old) assigned to the health care center in question were selected by means of a systematic sampling. After sending them a letter notifying them of the reason for this study, they were contacted by telephone to fill out the survey, which included questions regarding their knowledge and use of contraceptive methods, their sociocultural characteristics and sexual activity. Appointments at the health center were made with those women who did not have telephones. RESULTS: 178 women were contacted, 166 of whom took part in the survey (42.7% response rate). 86 of these women (51.8%; CI: 44.2-59.4%) were using some means of contraception. Nevertheless, among women at risk of unwanted pregnancies, the prevalence of use was 70.5% (CI: 62.4-78.6%), being worthy of special mention the fact that solely 45.4% of the women within the 40-45 age group were using contraceptives, revealing a frequency significantly lower than the other age groups. The methods known to the greatest degree were the condom (90.4%), oral contraceptives (89.2%) and the IUD (78.3%), the knowledge of other means being scant. CONCLUSIONS: The rate of use of contraceptive methods among women at risk of unwanted pregnancy is acceptable, although strikingly low among the women in the 40-45 age group. The methods known most were the condom, oral contraceptives and the intrauterine device.

Uso do suporte ventilatório com pressäo positiva contínua em vias aéreas (CPAP) por meio de máscara nasofacial no tratamento da insuficiência respiratória aguda / Continuous positive airway pressure (CPAP) by face mask to treat acute respiratory failure

Objetivo. O objetivo dos autores foi avaliar o efeito da ventilaçäo com CPAP oferecida por meio de máscara nasofacial como método de suporte ventilatório em pacientes com insuficiência respiratória aguda com critérios de indicaçäo para intubaçäo traqueal. Casuística e Método. Foram estudados 11 pacientes com idade média de 41,3 anos em insuficiência respiratória aguda internados na Unidade Respiratória do Hospital Säo Paulo - Escola Paulista de Medicina. A admissäo, era colhida gasometria arterial em ar ambiente e monitorizava-se freqüência respiratória (f), freqüência cardíaca (FC) e pressäo arterial (PA). Os mesmos parâmetros eram avaliados após oxigenoterapia via máscara facial aberta e com máscara facial de CPAP usando PEEP de 5cm H2O. Resultados. Com o uso de CPAP através de máscara nasofacial, houve melhora significativa dos níveis de PaO2 e diminuiçäo da freqüência respiratória (<0,05), quando comparados aos valores em ar ambiemte e com máscara facial aberta. Conclusäo. Este trabalho permitiu concluir que a máscara facial de CPAP com 5cm H2O foi eficiente em melhorar a oxigenaçäo arterial e diminuir a freqüência respiratória dos pacientes com insuficiência respiratória aguda, proporcionando-lhes maior conforto, constituindo uma medida terapêutica capaz de evitar o suporte ventilatório invasivo.

[Continuous positive airway pressure (CPAP) with face mask to treat acute respiratory failure]. / Uso do suporte ventilatório com pressão positiva contínua em vias aéreas (CPAP) por meio de máscara nasofacial no tratamento da insuficiência respiratória aguda.

OBJECTIVE: To evaluate the efficacy of continuous positive airway pressure (CPAP) administered by face mask in patients with acute respiratory failure with indication of mechanical ventilation. MATERIALS AND METHOD: Eleven patients (mean age 41.3 years) in acute respiratory failure were admitted in the Respiratory Unit--Hospital São Paulo--Escola Paulista de Medicina. At the admission pH, PaO2, PaCO2, respiratory rate (f), arterial pressure and heart rate were measured. The measurements were repeated with administration of oxygen with a high flow face mask at ambient airway pressure and then with 5 cm H2O of CPAP by face mask. RESULTS: The use of CPAP by face mask significantly improved the arterial blood oxygenation and decreased the respiratory rate (p < 0.05). CONCLUSION: These data allow the conclusion that CPAP administered by face mask improves gas exchange and decreases respiratory rate in patients with acute respiratory failure and may reduce the need for invasive mechanical ventilation.

Gradual bone distraction in craniosynostosis. Preliminary results in seven cases.

Seven patients with craniosynostosis (mean age 8 years, Apert syndrome, n = 4, Crouzon's disease, n = 3) underwent lengthening of the skull by gradual bone distraction. Three patients (group A) were treated by coronal craniectomy reaching the orbital fissure and gradual bone distraction. The other four (group B) underwent monobloc craniofacial disjunction and gradual bone distraction. The patients' progress was monitored clinically as well as by radiographs and photographs. The results showed that craniofacial disjunction followed by gradual bone distraction produced complete correction of exophthalmus and an improvement in the functional and aesthetic aspects of the middle third of the face without the need for bone grafts.

Estudio de la intoxicación por contaminación alimentaria en la ciudad de Chihuahua, mayo de 1996 / A study about food poisoning in Chihuahua city, may 1996

La ingestión de alimentos o líquidos contaminados por bacterias, virus hongos o parásitos, así como por toxinas o sustancias químicas, provoca brotes de intoxicaciones alimentarias que pueden ser causa de enfermedad aguda. Se realizó un estudio epidemiológico de tipo transversal en una maquiladora de la ciudad de Chihuahua, cuyos objetivos fueron la confirmación de la existencia del brote y el establecimiento de medidas de prevención y control. Se concluye que el brote dio lugar a la existencia de una persona portadora de Staphylococcus aureus

Nevoid basal-cell syndrome: literature review and case report in a family.

The Nevoid Basal-Cell Carcinoma Syndrome (NBCC), or as it is also referred to, basal-cell nevus syndrome or Gorlin-Goltz syndrome, is characterized by multiple early-appearing basal cell carcinomas, keratocytosis of the mandible, and anomalies of the ocular, skeletal reproductive system. We describe four patients in the same family, all of them possessing a large number of skin tumors associated with other typical clinical and X-Ray anomalies of NBCC. The definitive treatment of NBCC has yet to be established, however, early diagnosis is very important as well as the periodical follow-up examination of ten patients, mainly due to the transformations in the skin lesions that may occur.

Median mandibular cleft.

We report on a patient with median cleft of mandible and lower lip and its associated corrective treatment, and we review the literature.

Craniofacial treatment of giant-cell tumors of the sphenoid bone.

We report a craniofacial approach for resection of a giant-cell tumor of the sphenoid bone. Complementary radiotherapy was performed because of the incomplete tumor remotion. Four-year follow-up is presented.

[Use of autologous fibrin glue in facial reconstruction by total skin graft]. / Utilisation de la colle de fibrine autologue en reconstruction faciale par greffes de peau totale.

Fibrin glue of human origin was used in 12 patients following excision of facial skin tumors and reconstruction skin graft. Positive results were achieved in all cases with good by full-thickness healing, reduction of operating time and good aesthetic results.