Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis.

This report describes the fourth case of heritable 18p monosomy, which was ascertained by prenatal diagnosis. Cytogenetic analysis of amniotic fluid cells by G-banding showed an apparently distal 18p chromosome deletion and a derivative X chromosome resulting from a translocation between the X and Y chromosomes. Analysis of peripheral blood lymphocytes from the parents by G-banding revealed the same chromosome 18 deletion in the mother, who did not have the X/Y translocation. Comparative genomic hybridization (CGH) studies confirmed the loss of chromosome region 18p11.3-pter previously detected, and eliminated the presence of unbalanced reorganizations of other chromosome regions. No subtle translocation was detected by fluorescence in situ hybridization (FISH) studies using whole chromosome specific painting probes. This is a new report of a heritable 18p monosomy. Although in our case the mother had several minor congenital malformations, the loss of 18p11.3 band was not associated with any obvious phenotypic alteration in the fetus.

Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease.

We present three patients with variegated aneuploidy and premature centromere division (PCD), a rare chromosomal abnormality in humans. Comparison of these three and eight other patients with variegated aneuploidy related to PCD demonstrates a phenotype comprising most frequently microcephaly, CNS anomalies (with cerebellar affection and migration defects), mental retardation, pre-and postnatal growth retardation, flat and broad nasal bridge, apparently low-set ears, eye and skin abnormalities, and ambiguous genitalia in male patients. The occurrence of Wilms tumor in three patients, rhabdomyosarcoma in two others and acute leukemia in a fifth characterizes this condition as a chromosome or genome instability disorder with a high risk of malignancy. FISH studies in uncultured blood and buccal smear cells demonstrate that the random aneuploidies are not limited to cultured cells, but also occur in vivo.

Manejo del dolor crónico en Atención Primaria, perfil de prescripción de opiáceos mayores: indicación, coste y efectos secundarios / Managing chronic pain in Primary Care, prescription profile for strong opioids: indications, cost and adverse effects

Objetivos: el objetivo principal del estudio es conocer las características de la prescripción de opiáceos mayores en Atención Primaria. Material y métodos: se diseña un estudio retrospectivo mediante una cohorte histórica, valorando a los pacientes que hayan consumido opiáceos mayores en todos los centros de salud de Jaén capital durante 2011, mediante un muestreo sistemático, 215 pacientes, calculando el tamaño de muestra para un nivel de confianza 95 %, precisión 5 %, y pérdidas 5 % (ampliando la muestra este 5 % por sesgo de información); Se auditan las historias clínicas recogiendo: edad, sexo, antecedentes personales, nivel social, frecuentación sanitaria, características de la prescripción de opiáceos (dosis, duración, coste, efectos secundarios) y uso de otros analgésicos/coadyuvantes. Se procesan los datos para ofrecer un estudio descriptivo y una posterior comparación en función del opiáceo prescrito. Resultados: se valoran 215 pacientes (44 % del total de la población), de los que se obtienen 323 prescripciones de opiáceos en el año de estudio (23 % de la muestra con dos prescripciones de opiáceos y 13 % con tres). Los opiáceos más prescritos son fentanilo (60 %) y buprenorfina (22%), por un 3 % de morfina. La buprenorfina es el más usado en monoterapia (70 %), preferentemente en mujeres de edad avanzada y pensionistas, sobre todo para el dolor mixto por parte del médico de familia. El fentanilo se usa principalmente en parches (95 % de las prescripciones de fentanilo) y la hidromorfona se emplea en pacientes de menor edad (< 60 años), prescrito por la Unidad del Dolor y Reumatología (43 % y 20 % del total de prescripciones, respectivamente). La oxicodona se emplea más en pacientes de zonas necesitadas de transformación social (46 % del total de opioides prescritos en ZNTS) y exclusivamente para el dolor neuropático y mixto (52 % y 48 % respectivamente de las prescripciones totales de oxicodona), sobre todo por parte de Reumatología y Unidad del Dolor (25 % y 43 % del total de prescripciones respectivamente). La morfina se emplea en pacientes oncológicos por vía oral (46 % de las prescripciones de morfina), la mitad en formulación retard (45 % de las prescripciones de morfina), siendo estos pacientes quienes presentan una demanda sanitaria superior (91 % del total de pacientes con prescripción de morfina, acuden al servicio de urgencias, y un 46 % precisan ingreso hospitalario). Conclusiones: como medida de mejora, contrastando los resultados obtenidos, se debería fomentar la prescripción de morfina como analgésico de elección tanto en dolor agudo como en dolor crónico severo. Es preciso mejorar los instrumentos de medida específicos para cada tipo de dolor teniendo en cuenta la etiopatogenia de este, así como fomentar una mayor utilización de escalas de valoración, tanto al inicio del tratamiento, como durante el seguimiento de cada paciente para evaluar la evolución del dolor y la efectividad del tratamiento (AU)

Objectives: The main objective of the study was to determine the characteristics of major opioids prescribing in Primary Care. Material and methods: A retrospective study was designed through the use of a historical cohort, assessing patients who have consumed major opiates in all Jaén city health centers during 2011, by systematic sampling, 215 patients, computing the sample size for a confidence level of 95 %, accuracy 5 %, 5 % losses (expanding the 5 % sample by reporting bias). Medical records were audited to collect the following data: Age, sex, medical history, social status, number of appointments and use of hospital resources, characteristics of opioids prescription (dose, duration, cost, adverse reaction) and use of other analgesics/ adjuvants. Data were processed for a descriptive study and a subsequent comparison according to the prescribed opioid. Results: 215 patients were included (44 % of total population) those obtained 323 prescriptions for opiates in the study year (23 % of the sample with two prescriptions of opiates and 13 % with three). Most prescribed opioids were fentanyl (60 %) and buprenorphine (22 %) and the least prescribed is by 3 % morphine. Buprenorphine is the most used in monotherapy (70 %), preferably in older women and pensioners, especially for joint pain by the general practitioner. The fentanyl is mainly used in patches (95 % of prescriptions of fentanyl) and hydromorphone is used in younger patients (< 60 years), prescribed by the Pain and Rheumatology Departments (43 % and 20 % of total prescriptions, respectively). Oxycodone is used in patients from areas with social transformation needs (46 % of prescribed opioids in ZNTS) and exclusively for neuropathic and mixed pain (52 % and 48 % respectively of total prescriptions of oxycodone), especially by the Rheumatology and Pain Unit. Morphine is used orally in cancer patients (46 % of prescriptions for morphine), half in retard formulation (45 % of prescriptions for morphine), and these patients were who have a higher healthcare demands (91 % of totals patients prescribed morphine, go to the emergency department, and 46 % required hospital admission). Conclusions: As improvement measure, after contrasting the results, we should encourage the prescription of morphine as an analgesic of choice in both acute and chronic severe pain. An improvement in the measuring instruments specific to each type of pain considering its pathogenesis is required, as well as fostering a greater use of rating scales, both at the start of treatment and during the follow-up of each patient to assess the evolution of pain and treatment effectiveness (AU)

Terminal deletion of Xp in a dysmorphic anencephalic fetus.

We report an anencephalic fetus with acrania, cervicodorsal rachischisis, and a 46,X,del(X)(p22.1) karyotype. Necropsy revealed a left diaphragmatic hernia, ipsilateral lung hypoplasia, and intestinal malrotation. The fetus also had horseshoe kidneys and adrenal gland hypoplasia with absence of the fetal zone.

Early amniocentesis with the filtration technique: neonatal outcome in 123 singleton pregnancies.

OBJECTIVE: To evaluate results of a prospective study of pregnancies in which early amniocentesis with the filtration technique was performed at 10-13 weeks' gestation (mean 12.3 weeks' gestation). METHODS: 123 singleton pregnancies in which early amniocentesis with the modified filtration technique was performed at 10-13 weeks' gestation (mean 12.3 weeks' gestation). The amniotic fluid was aspirated into the syringe and reinjected through the filter. RESULTS: All the procedures were performed successfully by a single needle insertion. Neither dry taps nor filtration failures occurred. The mean time of amniocentesis was 4.02 min (95% confidence interval, 3 min and 36 s to 4 min and 18 s). The karyotyping success rate was 99.2%. Temporary amniotic fluid leakage occurred in three women (2.4%). There were 110 (89.4%) live births. Two cases of stillbirth occurred at week 38 and week 40. Two unintended losses occurred within three weeks after sampling (1.62%). Another additional unintended fetal death was notified at the 20-week screening ultrasonography. The total fetal-loss rate was 10.6%. In one case, talipes equinovarus was detected at the 20-week screening ultrasound study. CONCLUSIONS: Further studies are needed to determine the risk of amniotic leakage and its relation to duration of the procedure in patients undergoing early amnifiltration.

Trisomy (12p) with telocentric and pseudoisodicentric chromosome formation in a fetus.

We report an 18-week-old fetus with at 47, XY, -12, +12q, +psu idic(12p) karyotype, mild dysmorphic features and absence of the brachiocephalic truncus.

Terminal deletion of 6p: report of a new case.

The authors report the case of a girl with psychomotor and growth retardation, ventricular septal defect, patent ductus arteriosus, bulging forehead, prominent philtrum, low nasal bridge, inner epicanthal folds, strabismus, miosis, low set ears with prominence of antihelices, short neck, single transverse crease and camptodactyly of the fourth finger in both hands. G-banded chromosomal analysis revealed a 46, XX, del (6) (p23) chromosome constitution. A review of the phenotypes of the patients known with this chromosome deletion is presented.