Síndrome de Jacobsen (deleción parcial 11q) asociado a trombocitosis: presentación de un caso y revisión de la literatura científica / Jacobsen syndrome (partial 11q deletion) associated to thrombocytosis: report of a case and literature review

Introducción: El síndrome de Jacobsen se debe a una deleción parcial del brazo largo del cromosoma 11. En un 85% de los casos, la deleción ocurre de novo. Los signos más comunes incluyen retraso en el crecimiento pre/posnatal, retraso psicomotor y malformaciones, así como una dismorfia facial característica. Con frecuencia, desde el nacimiento existe una función plaquetaria anormal, una trombocitopenia o una pancitopenia. Aproximadamente un 20% de los pacientes fallece durante los 2 primeros años de vida. Caso clínico: Recién nacida a término, sin antecedentes familiares de interés, que presenta un fenotipo peculiar (pabellones auriculares pequeños, de implantación baja, puente nasal ancho, hipertelorismo, fisuras palpebrales inclinadas hacia abajo, boca «en carpa», microrretrognatia), fisura palatina, lesiones de aspecto petequial en tórax y muslo derecho, asociado a himen imperforado. Cariotipo 46,XX,del(11)(q14.1q23.3)dn, el estudio de ambos progenitores fue normal. Desde las 2 semanas de vida, la niña presentó una importante trombocitosis, con nula adquisición de los ítems madurativos. La paciente falleció a los 3 meses de vida, tras un accidente cerebrovascular hemorrágico espontáneo. Conclusiones: Las manifestaciones clínicas se relacionan con el tamaño de la deleción. Generalmente, el punto de rotura se localiza en 11q23.3. Entre las alteraciones hematológicas, la más frecuente es la trombopenia, aunque no fue así en esta paciente, que presentaba una trombocitosis. Esto parece deberse a que cuando la deleción afecta a la banda 11q24 se produce la pérdida del gen FLI-1, entre otros genes, que desempeñan un papel fundamental en la megacariopoyesis (AU)

Introduction: Jacobsen syndrome is due to partial deletion of the long arm of chromosome11. A de novo deletion occurs in 85% of cases. Most common signs include pre- and postnatal growth retardation, psychomotor delay, malformations and characteristic facial dysmorphism. Abnormal platelet function thrombocytopenia or pancytopenia are frequent from birth. Approximately, 20% of patients die during the first 2 years of life. Case report: Newborn female born at term, without any family history of congenital anomalies, presenting with peculiar phenotype (small and low-set ears, broad nasal bridge, hypertelorism, downslanting palpebral fissures, micro-retrognathia), carp-like mouth, cleft palate, petechial-like lesion in thorax and right thigh, associated to imperforate hymen. Karyotype 46,XX,del(11)(q14.1q23.3)dn, being normal for both her parents. Since the age of 2 weeks she had a marked thrombocytosis, with no acquisition of developmental milestones. The patient died at 3 months after a spontaneous hemorrhagic cerebral-vascular accident. Conclusions: Clinical manifestations of the syndrome are related to the size of the deletion. Generally, the breakpoint is located at 11q23.3. Among the hematological alterations the most frequent one is thrombopenia, unlike our patient, who had thrombocytosis. This seems to be due to the loss of FLI-1, among other genes with a key role in megakaryopoiesis, when the deletion affects the band 11q24 (AU)

A highly specific coding system for structural chromosomal alterations.

The Spanish Collaborative Study of Congenital Malformations (ECEMC, from the name in Spanish) has developed a very simple and highly specific coding system for structural chromosomal alterations. Such a coding system would be of value at present due to the dramatic increase in the diagnosis of submicroscopic chromosomal deletions and duplications through molecular techniques. In summary, our new coding system allows the characterization of: (a) the type of structural anomaly; (b) the chromosome affected; (c) if the alteration affects the short or/and the long arm, and (d) if it is a non-pure dicentric, a non-pure isochromosome, or if it affects several chromosomes. We show the distribution of 276 newborn patients with these types of chromosomal alterations using their corresponding codes according to our system. We consider that our approach may be useful not only for other registries, but also for laboratories performing these studies to store their results on case series. Therefore, the aim of this article is to describe this coding system and to offer the opportunity for this coding to be applied by others. Moreover, as this is a SYSTEM, rather than a fixed code, it can be implemented with the necessary modifications to include the specific objectives of each program.

Pautas de prevención de defectos congénitos con especial referencia a los niveles primario y secundario. Guías de actuación preventiva desde la atención primaria / Guidelines for the prevention of congenital defects, particularly at primary and secondary level. Prevention guidelines from Primary Care

La prevención de defectos congénitos (DC) no difiere en esencia de la que se sigue para cualquier otra enfermedad. En el primer nivel, el de la prevención primaria, se trata de impedir que se produzca el trastorno. El segundo nivel se aplica cuando el DC ya se ha producido, y consiste en curar la enfermedad o, cuando ello no es posible, como en la mayoría de los DC, evitar que se agrave. Este nivel se basa en el diagnóstico precoz y correcto de la enfermedad, y en instaurar inmediatamente el tratamiento adecuado y las medidas correctoras o paliativas. El tercer nivel se instaura una vez que han fracasado los 2 anteriores y se centra en medidas que mejoren la autonomía y la calidad de vida del paciente (integración social y laboral de los afectados, supresión de barreras arquitectónicas, etc.). Por último, existe un «cuarto nivel de prevención» que consiste en evitar toda sobreactuación médica, en la que se someta al paciente a pruebas innecesarias que no sólo no le ayudan sino que, además, pueden generarle efectos adversos añadidos incluyendo problemas psíquicos. En este artículo se resumen las medidas más relevantes que se deberían implantar desde el colectivo de médicos de atención primaria, para conseguir todos los niveles de prevención de DC y, especialmente, de prevención primaria (AU)

There is essentially no difference in the prevention of congenital defects (CD) from that of any other disease. Primary prevention consists of preventing the causes that produce the disease. Secondary prevention is applied when the CD has already occurred, and consists of curing the disease, or when this is not possible, as in the majority of CD, to prevent it getting worse. This level is based on the early and correct diagnosis of the disease, and initiating immediate and appropriate treatment and corrective or palliative measures. The third level is started when the previous ones fail, and is focussed on measures that improve independence and quality of life (social and occupational integration of those affected, removal of architectural obstacles, etc.). Lastly, there is a “fourth level of prevention”, which consists of avoiding over-medication, in which the patient is subjected to unnecessary tests, which not only do not help the patient, but can also produce added adverse effects, including psychiatric problems. This article summarises the most important measures that Primary Care doctors should introduce to achieve all levels of CD prevention, and particularly primary prevention (AU)

Ejemplos clínicos de alteraciones crípticas del ADN, y guías para sospechar que un niño pueda tener alguna alteración críptica o molecular / Examples of DNA cryptic alterations, and guidelines for suspecting a child may have cryptic genetic or molecular alterations

No siempre es posible establecer el diagnóstico de un recién nacido con defectos congénitos. En general esto se debe a varias causas fundamentales: a) porque el conjunto de manifestaciones clínicas que presentan son aún de causa desconocida; b) porque los síndromes que ya se conocen tienen una frecuencia tan baja que no son fáciles de reconocer cuando no se tiene experiencia previa; c) porque no existe especificidad alguna entre una causa y un defecto; d) porque algunos solo presentan rasgos dismórficos que solo con gran experiencia pueden ser evaluados, ya que la mayoría de esos rasgos se encuentran en la población general sana, y e) porque muchos de ellos son de aparición evolutiva siendo de apariencia normal al nacimiento. Sin embargo, hoy se sabe que algunos de estos síndromes son producidos por alteraciones debidas a pérdidas de porciones cromosómicas tan pequeñas que no se detectan por citogenética de alta resolución (son crípticas para estas técnicas) o a mutaciones conocidas de ciertos genes. Como muchos de estos niños van a ir presentando sus manifestaciones durante la infancia, van a ser atendidos por los médicos de atención primaria, por lo que es esencial que dispongan de unas pequeñas guías para su reconocimiento y su manejo adecuado. En este artículo se explican las diferentes formas de presentación, sus características, las técnicas con las que se pueden diagnosticar, así como los síntomas que pueden alertar sobre estos síndromes y forma de actuar. Porque de la identificación precoz depende mucho el pronóstico y la información a la familia (AU)

It is not always possible to establish the diagnosis of a newborn with congenital defects. In general, this is due to several main reasons: a) because the group of clinical signs that they show are still of an unknown cause; b) because the already known syndromes are such a low frequency that they are not easy to recognise when there is no previous experience; c) because there is no specificity between a cause and a defect; d) because some only present with dysmorphic characteristics that can only be assessed by someone with wide experience since the majority of these characteristics are found in the general healthy population; and e) because many of them appear over time, appearing normal at birth. However, it is now known that some of these syndromes are caused by changes due to the loss of chromosome portions so small that they are not detected by high resolution cytogenetics (they are cryptic for these techniques), or to known mutations in certain genes. As many of these children will present with their signs during childhood and are going to be seen by Primary Care doctors, it is essential that small guises are available to recognise them and manage them appropriately. This article explains the different forms of presentation, their technical characteristics by which they can be diagnosed, as well as the symptoms that may make us aware of these syndromes and how to act. The prognosis very much depends on early identification and information to the family (AU)

Resumen de la evolución de las técnicas de citogenética y genética molecular para la identificación de las alteraciones genéticas del desarrollo embrionario / Review of the development of molecular cytogenetic and genetic techniques for identifying genetic anomalies in embryonic development

Desde la última mitad del siglo xx se ha producido un espectacular progreso en el conocimiento sobre el material genético humano: se han caracterizado los cromosomas, se ha identificado la secuencia completa del genoma y se ha relacionado un gran número de alteraciones de la estructura y secuencia del ADN con todo tipo de enfermedades, tanto hereditarias como no hereditarias (especialmente asociadas a cáncer). Este desarrollo ha venido propiciado, y acompañado, por una gran cantidad de técnicas para su estudio, muchas de las cuales se han trasladado a la investigación y la caracterización de la carga genética de los seres humanos, y a su aplicación en la práctica clínica para el diagnóstico de ciertas patologías. Ello ha generado que, además de los estudios moleculares al nivel de identificación de la mutación de un gen, la citogenética convencional se haya ampliado a la detección de alteraciones extremadamente pequeñas de la estructura del cromosoma, dando lugar a una nueva área de diagnóstico denominada citogenética molecular. Esta incluye diversas técnicas que detectan alteraciones pequeñas en orden decreciente, desde las micro-deleciones y micro-duplicaciones detectables por sondas fluorescentes (FISH), hasta los arrays genómicos y los arrays basados en hibridación genómica comparada (CGH) que detectan cambios aun más pequeños. Sin embargo, debido a su alta resolución, los arrays son capaces de identificar variaciones en el ADN cuyo significado, en muchos casos, es aun incierto. Esto implica que incluso algunas de las técnicas que más se están utilizando en la actualidad, como la CGH array, precisen de una cuidadosa evaluación antes de ofrecer un diagnóstico (AU)

Spectacular progress has been made in the knowledge of human genetic material since the middle of the last century: the chromosomes have been characterised; the complete sequence of the genome has been identified. Also, all types of diseases hereditary and non-hereditary diseases (especially cancers) have been associated to changes in DNA structure and sequence. These developments have been accompanied by a great number of techniques, which have led to the investigation and characterisation of the human genetic load, and its application in clinical practice for the diagnosis of certain diseases. This has meant that, besides studies at molecular level for identifying a gene mutation, conventional cytology has extended to the detection of extremely small changes in the structure of the chromosome, giving rise to a new area of diagnosis called molecular cytogenetics. This includes various techniques that detect small changes, in decreasing order, from microdeletions and microduplications detectable by fluorescent probes (FISH), to genomic arrays and arrays based on compared genomic (CGH) which detect even smaller changes. However, due to their high resolution, arrays are capable of identifying variations in DNA, which in many cases its importance is still uncertain. This implies that even some of the most common techniques currently used, such as CGH, require a careful evaluation before offering a diagnosis (AU)

Subtelomeric deletion of 12p: Description of a third case and review.

Only 12 cases with a cytogenetically visible deletion of the short arm of chromosome 12 (12p) have been reported so far. The difference in clinical features observed in these patients indicates that there is no distinct phenotype associated with this short arm deletion, although the existence of a del(12p) syndrome was previously suggested. Besides those 12 reports, only two patients have been described with a subtelomeric 12p deletion; both present in the same family in which the son showed a mild phenotype of moderate mental retardation and behavioral problems and his carrier mother had no apparent phenotype. In this article, we describe the third known patient with a subtelomeric 12p deletion in a young boy with mental retardation and microcephaly, and review the literature.

A small and active ring X chromosome in a female with features of Kabuki syndrome.

A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a correlation between this severity and the presence or absence of an intact and functional X inactivation center (XIST). However, the phenotype of the individuals with r(X) cannot be entirely defined in terms of their X-inactivation patterns. Nevertheless, a small group of these patients have been described to manifest clinical features reminiscent of the Kabuki syndrome. Here we present a female patient with clinical features resembling Kabuki syndrome and a mos 45,X/46,X,r(X) karyotype. Methylation analyses of polymorphic alleles of the androgen receptor gene showed that both alleles were unmethylated suggesting an active ring chromosome. A specific X chromosome array CGH was performed estimating the size of the ring to be 17 Mb, lacking the XIST gene, and including some genes with possible implications in the phenotype of the patient.

Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review.

Small supernumerary marker chromosomes (sSMC) have been described from all human chromosomes with different sizes and shapes. However, it is difficult to know the clinical manifestations associated with them, because such knowledge depends on the size, presence of euchromatic material, degree of mosaicism and/or uniparental disomy (UPD). Pure trisomy of the whole arm of chromosome 18 (18p), has been described in only a few cases and the general consensus is that there is a mild phenotypic effect. Here we report on a newborn male presenting with an atrial septal defect and a club foot. The high resolution G-band karyotype (550-850 bands) and the molecular cytogenetic techniques revealed in all cells the presence of an sSMC, which was a complex derivative from the short arm of a chromosome 18 (18p) and a centromere of a chromosome 13/21. His healthy mother had the same sSMC in all analyzed cells. With the present case, we support the previous suggestion that this unusual chromosome trisomy 18p has little clinical repercussions.

The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history.

We report on the molecular cytogenetics studies in a healthy couple who had had three pregnancies which ended in a termination of pregnancy (TOP). In two of them, prenatal sonogram showed fetal dwarfism and in the third one, a chromosome alteration was found in the amniocentesis. A previous pregnancy ended in a healthy girl. A high-resolution G-band karyotype (550-850 bands), together with Fluorescence in situ Hybridization (FISH) techniques, detected in the father a 4p interstitial euchromatic duplication. This chromosome duplication appears to be a previously undescribed euchromatic variant (EV). We discuss the possibility that the 4p paternal EV could be involved in the clinical and genetic findings of the three TOPs.

Evolución secular y por comunidades autónomas de la frecuencia de síndrome de Down al nacimiento en hijos de madres jóvenes / Trends in the frequency of Down syndrome in the infants of young mothers in the autonomous communities of Spain

Introducción: Hay una relación universalmente probada entre la edad materna y el riesgo para tener hijos con síndrome de Down (SD), que es mayor a medida que aquélla aumenta. El grupo de madres con más de 34 años (entre un 9 y un 14% del total) tiene globalmente 10 veces más riesgo que el grupo con menos de 35 años. Por ello, las madres con 35 años o más han sido la población diana para el diagnóstico prenatal del SD. Como consecuencia de ello, la frecuencia de recién nacidos con SD en este grupo de madres va disminuyendo con el tiempo. Sin embargo, el desarrollo de nuevas técnicas de cribado ha facilitado también la detección de grupos de riesgo para SD en las madres con menos de 35 años. El objetivo de este trabajo era estudiar la evolución de la frecuencia de SD en los recién nacidos de madres menores de 35 años en España, durante 28 años y por comunidades autónomas. Material y métodos: Se han utilizado los datos registrados por el Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC) entre 1976 y 2003, procedentes de todas las comunidades autónomas. El ECEMC es un programa de investigación clínico-epidemiológica sobre las causas de los defectos congénitos, estructurado como un sistema permanente de registro con un diseño de tipo casos y controles y de base hospitalaria. Para el análisis de la tendencia temporal se ha utilizado el test de tendencia lineal (χ² con un grado de libertad) y la χ² con k-2 grados de libertad para detectar desviaciones de la linealidad. Resultados: La frecuencia global de SD en el grupo de madres menores de 35 años ha disminuido de forma estadísticamente significativa con el tiempo (p = 0,03), fundamentalmente los últimos años. Dicho descenso es estadísticamente significativo en Cataluña (p = 0,002) y Galicia (p = 0,01). Sin embargo, no se alcanza la significación estadística para los descensos observados en Andalucía, Islas Baleares, Madrid y País Vasco. En la Comunidad Foral de Navarra y en La Rioja no se ha podido evaluar la tendencia más reciente porque estas comunidades interrumpieron temporalmente su participación en el estudio. En el Principado de Asturias hemos detectado un incremento secular significativo, y en el resto de las comunidades no se aprecian tendencias destacables. Además, el porcentaje de madres con más de 34 años ha aumentado progresivamente hasta alcanzar el 20,54% del total de madres en 2003, mientras que el número y el porcentaje de niños con SD que nacieron de madres con más de 34 años ha ido disminuyendo hasta ser inferior al de niños con SD hijos de madres con menos de 35 años. Discusión: La evolución global con el transcurso del tiempo de la frecuencia de SD en hijos de madres con menos de 35 años muestra ya un descenso significativo, pero éste no es igual en todas las comunidades autónomas. Este hecho puede ser consecuencia de la aplicación de planes diversos, que se deberían homogeneizar, dirigidos a la detección prenatal del SD en el grupo de madres de menor riesgo

Introduction: There is a universally proven relationship between maternal age and the risk of having an infant with Down syndrome (DS); the risk is greater as maternal age increases. The overall risk is increased almost 10-fold in mothers aged more than 34 years (traditionally accounting for 9-14% of all mothers) than in those aged less than 35 years. For this reason, mothers aged 35 years or older have constituted the target population for prenatal diagnosis of DS and, consequently, the frequency of newborn infants with DS in this age group has clearly decreased over time. However, the development of new prenatal screening techniques has allowed groups with a higher risk to be detected among young mothers. The aim of this study was to analyze trends in the frequency of DS in the infants of mothers aged less than 35 years old in Spain over the last 28 years by autonomous communities in Spain. Material and methods: Data from the Spanish Collaborative Study of Congenital Malformations (Estudio Colaborativo Español de Malformaciones Congénitas [ECEMC]) corresponding to the period 1976-2003, and obtained from all the autonomous communities in Spain, were used. The ECEMC is a clinical-epidemiological research program on the causes of congenital defects, structured as a permanent registration system with a case-control design. The program is hospital-based. For the analysis of time trends, the lineal trend test (χ² with 1 degree of freedom) was used. To detect deviations from linearity, a χ² test with k-2 degrees of freedom was used. Results: The overall frequency of DS in mothers younger than 35 years significantly decreased over time (p = 0.03), mainly in the last few years. This decrease was statistically significant in the autonomous communities of Catalonia (p = 0.002) and Galicia (p = 0.01), but was nonsignificant in Andalusia, Balearic Island, Madrid and the Basque Country. In Navarre and La Rioja, the most recent tendency could not be evaluated because these regions temporarily interrupted their participation in the study. A statistically significant increase was found in the Principality of Asturias. No notable tendencies were found in the remaining regions. The percentage of mothers older than 34 years progressively increased, accounting for 20.54% of all mothers in 2003, while the number and percentage of infants with DS born to mothers older than 34 decreased and was lower those of infants with DS born to mothers younger than 35 years. Discussion: Although the time trend of the frequency of DS in the infants of mothers aged less than 35 years showed a significant overall decrease, differences were found in the distinct autonomous communities. This finding could be a result of the application of different programs for the prenatal detection of DS in lower-risk maternal age groups. Therefore, homogenizing these programs would seem advisable

[Tobacco dependency and adolescents: a good time to give up smoking? Relation to social and family factors]. / Tabaquismo y adolescentes: 'buen momento para dejar de fumar? Relación con factores sociofamiliares.

OBJECTIVES: To find the prevalence and dependency of adolescents on tobacco, its relation with family and social factors and the motivation for giving up smoking. DESIGN: Cross-sectional, descriptive study using questionnaires. SETTING: Secondary school, Jaén, Spain. PARTICIPANTS AND MEASUREMENTS: A total of 232 students: the questionnaire included questions on age, sex, tobacco consumption, smoking habits of family and friends, and family structure. The following tests were given: the Apgar family (AFT), Fagerström (FT), and Richmond (RT) tests. RESULTS: Mean age 14.1 years old (95% CI, 13.9-14.3; range, 5 years); 57% boys. A 22% (17.1%-24.5%) were smokers, most of whom were boys (65.2%-86.7%; P<.001, *2) and were older than non-smokers (0.7-1.5; P<.001, Student's t). Mean consumption was 9.2 cigarettes a day (7.4-11.0) over 32 months (14.6-49.5). Friends who smoked were more frequent among adolescents who smoked (80.9%-99%) than among non-smokers (57.3%-70.6%; P<.001, *2). Smoking every day increased consumption by 6 cigarettes a day (3.6-9.2; P<.001, Student's t). In 71% (65.3%-76.6%) of families, there were smokers, principally the parents (63.3%-74.6%), who, in 85% (74.2%-95.8%) of cases, disapproved of their son/daughter smoking. Family dysfunction was more frequent in smokers (30% mild [16.1%-43.9%] and 17% severe [5.4%-28.6%]; P<.001, *2). The FT was positive for 12% (2%-22%) and was associated with the consumption of cigarettes per day (r=0.78; P<.05, Pearson). The RT was positive for 22% (15.1%-28.9%): 70% in the contemplation stage (55.6%-84.3%); 17% in preparation (5.4%-28.6%); 13% in action (3%-23%). CONCLUSIONS: The consumption of tobacco among adolescents is related to family function and having friends who smoke. The low dependency and the motivation to change make this stage of life a good moment to concentrate on anti-smoking counselling.

Tabaquismo y adolescentes: ¿buen momento para dejar de fumar? Relación con factores sociofamiliares / Tobacco dependency and adolescents: a good time to give up smoking? Relation to social and family factors

Objetivo. Conocer la prevalencia y la dependencia del tabaquismo entre adolescentes, la relación con factores sociofamiliares y la motivación para abandonar el consumo. Diseño. Estudio descriptivo transversal mediante encuesta. Emplazamiento. Instituto de educación secundaria de Jaén. Sujetos y mediciones. Se estudió a 232 alumnos; se recogen la edad, el sexo, el hábito tabáquico, la estructura familiar y el consumo de la familia y los amigos. Se entregan los tests de Apgar familiar, Fagerström y Richmond. Resultados. Edad media 14,1 años; 57% varones y 43% mujeres. Un 22% (intervalo de confianza [IC] del 95%, 17,1-26,9%) fuma, la mayoría son varones (IC del 95%, 65,2-86,7; p < 0,001, test de la *2) y con mayor edad que los no fumadores (diferencia de 1 año; IC del 95%, 0,7-1,5; p < 0,001 test de la t de Student), consumo medio de 9,2 cigarrillos/día (IC del 95%, 7,4-11,0) y duración de 32 meses (IC del 95%, 14,6-49,5). Los amigos que fuman son más frecuentes entre adolescentes fumadores (IC del 95%, 80,9-99,0) que entre no fumadores (IC del 95%, 57,3-70,6; p < 0,001, test de la *2). Fumar diariamente incrementa el consumo en 6 cigarrillos/día (IC del 95%, 3,6-9,2; p < 0,001, test de la t de Student). Se fuma en un 71% (IC del 95%, 65,3-76,6) de las familias, sobre todo los padres (IC del 95%, 63,3-74,6), la mayoría de los cuales reprueba el tabaquismo de su hijo/a (IC del 95%, 74,2-95,8). La disfunción familiar es más frecuente en fumadores (un 30% disfunción leve [IC del 95%, 16,1-43,9] y un 17% con disfunción grave [IC del 95%, 5,4-28,6]; p < 0,001, test de la *2). Un 12% (IC del 95%, 2-22) da positivo en el test de Fagerström y se asocia con el consumo de cigarrillos/día (r = 0,78; p < 0,05, Pearson). Un 22% tiene un test de Richmond positivo (IC del 95%, 15,1-28,9): el 70% se encuentra en fase de contemplación (IC del 95%, 55,6-84,3), el 17% en fase de preparación (IC del 95%, 5,4-28,6) y el 13% en fase de acción (IC del 95%, 3-23). Conclusiones. El consumo de tabaco entre adolescentes se relaciona con la función familiar y el tabaquismo de los amigos. La baja dependencia y el porcentaje de motivación para el cambio hacen de esta etapa vital un buen momento para incidir en el consejo antitabaco

Objectives. To find the prevalence and dependency of adolescents on tobacco, its relation with family and social factors and the motivation for giving up smoking. Design. Cross-sectional, descriptive study using questionnaires. Setting. Secondary school, Jaén, Spain. Participants and measurements. A total of 232 students: the questionnaire included questions on age, sex, tobacco consumption, smoking habits of family and friends, and family structure. The following tests were given: the Apgar family (AFT), Fagerström (FT), and Richmond (RT) tests. Results. Mean age 14.1 years old (95% CI, 13.9-14.3; range, 5 years); 57% boys. A 22% (17.1%-24.5%) were smokers, most of whom were boys (65.2%-86.7%; P<.001, *2) and were older than non-smokers (0.7-1.5; P<.001, Student's t). Mean consumption was 9.2 cigarettes a day (7.4-11.0) over 32 months (14.6-49.5). Friends who smoked were more frequent among adolescents who smoked (80.9%-99%) than among non-smokers (57.3%-70.6%; P<.001, *2). Smoking every day increased consumption by 6 cigarettes a day (3.6-9.2; P<.001, Student's t). In 71% (65.3%-76.6%) of families, there were smokers, principally the parents (63.3%-74.6%), who, in 85% (74.2%-95.8%) of cases, disapproved of their son/daughter smoking. Family dysfunction was more frequent in smokers (30% mild [16.1%-43.9%] and 17% severe [5.4%-28.6%]; P<.001, *2). The FT was positive for 12% (2%-22%) and was associated with the consumption of cigarettes per day (r=0.78; P<.05, Pearson). The RT was positive for 22% (15.1%-28.9%): 70% in the contemplation stage (55.6%-84.3%); 17% in preparation (5.4%-28.6%); 13% in action (3%-23%). Conclusions. The consumption of tobacco among adolescents is related to family function and having friends who smoke. The low dependency and the motivation to change make this stage of life a good moment to concentrate on anti-smoking counselling

[An analysis of an enteral nutrition guideline in patients with cancer of the ORL area]. / Análisis de una pauta de nutrición enteral en pacientes con cáncer del área ORL.

AIMS: The result was assessed of the enteral nutrition guideline prescribed in 50 patients using internationally accepted parameters as indicators of the nutritional state. METHODS: Fifty patients were selected at random with an ORL zone neoplasm, they were prescribed enteral nutrition according to our Section's procedure, involving the administration of a commercialized enteral diet whose composition is a homogenization of natural foods administered in 6 sessions at three-hour intervals during the day, begun with 100 cc of diet per session up to a total of 400 (2400 kcal/day), and with the addition of 100 cm of water in each administration. The average age was 59.58 +/- 11.2 years (range 30-81), the average duration of nutrition was 34.02 +/- 32.1 days (range, 3-201 days). The following were taken in all cases: Weight (W), Size (S), Tricipital fold (TF), brachial circumference, urinary creatinin, seric albumin (A), seric transferrin (T), total lymphocytes (Lt) and retarded cutaneous sensitivity, using Multitest IMC (M), and these data were used to calculate muscular circumference (MC) and the creatinin size index (CSI). Two nutritional valuations (NV) were analyzed, the first one taken (NV1) and the one prior to discharge (V2). Analytical calculations were done by our Center's Analytical Laboratory. We used Wilcoxon's test included in the SX statistical package for statistical analysis. RESULTS: On the fifty patients selected, only thirty had a second NV. Comparison of the two calculations gave the following results: A statistically significant rise of A (A1: 3.6 +/- 0.8, vs A: 3.8 +/- 0.7; p < 0.0001) and of T (T1: 208.2 +/- 52.0, vs T2: 237.5 +/- 44.39; p < 0.0001). There was also a statistically significant reduction of P (P1: 63.93 +/- 12.32 vs P2: 62.88 +/- 11.28; p < 0.04). Comparison of the remaining variables did not provide statistically significant differences: PT (PT1: 11.46 +/- 4.9 vs PT2: 12.07 +/- 4.6; p > 0.05). MC (MC1: 23.93 +/- 2.5 vs MC2: 23.58 +/- 1.9; P > 0.05). CSI (CSI1: 8.5 +/- 8 vs CSI2: 6.9 +/- 2.9; p > 0.05). L (L1: 1855 +/- 760.5 vs L2: 1808 +/- 769.1; p > 0.05). M (M1: 12.58 +/- 7.8 vs M2: 14.01 +/- 8.5; p > 0.05). CONCLUSIONS: It is deduced from the results that the guideline used is useful in maintaining the nutritional state of patients prior to their treatment, despite weight-loss, since the ratio of weight-loss to the time between NV1 and NV2 is not significant.