Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1.

Inherited retinal diseases (IRDs) represent a spectrum of clinically and genetically heterogeneous disorders. Our study describes an IRD patient carrying ABCA4 and USH2A pathogenic biallelic mutations as a result of paternal uniparental disomy (UPD) in chromosome 1. The proband is a 9-year-old girl born from non-consanguineous parents. Both parents were asymptomatic and denied family history of ocular disease. Clinical history and ophthalmologic examination of the proband were consistent with Stargardt disease. Whispered voice testing disclosed moderate hearing loss. Next-generation sequencing and Sanger sequencing identified pathogenic variants in ABCA4 (c.4926C>G and c.5044_5058del) and USH2A (c.2276G>T). All variants were present homozygously in DNA from the proband and heterozygously in DNA from the father. No variants were found in maternal DNA. Further analysis of single nucleotide polymorphisms confirmed paternal UPD of chromosome 1. This is the first known patient with confirmed UPD for two recessively mutated IRD genes. Our study expands on the genetic heterogeneity of IRDs and highlights the importance of UPD as a mechanism of autosomal recessive disease in non-consanguineous parents. Moreover, a long-term follow-up is essential for the identification of retinal features that may develop as a result of USH2A-related conditions.

Discharge properties of morphologically identified vestibular neurons recorded during horizontal eye movements in the goldfish.

Computational capability and connectivity are key elements for understanding how central vestibular neurons contribute to gaze-stabilizing eye movements during self-motion. In the well-characterized and segmentally distributed hindbrain oculomotor network of goldfish, we determined afferent and efferent connections along with discharge patterns of descending octaval nucleus (DO) neurons during different eye motions. Based on activity correlated with horizontal eye and head movements, DO neurons were categorized into two complementary groups that either increased discharge during both contraversive (type II) eye (e) and ipsiversive (type I) head (h) movements (eIIhI) or vice versa (eIhII). Matching time courses of slow-phase eye velocity and corresponding firing rates during prolonged visual and head rotation suggested direct causality in generating extraocular motor commands. The axons of the dominant eIIhI subgroup projected either ipsi- or contralaterally and terminated in the abducens nucleus, Area II, and Area I with additional recurrent collaterals of ipsilaterally projecting neurons within the parent nucleus. Distinct feedforward commissural pathways between bilateral DO neurons likely contribute to the generation of eye velocity signals in eIhII cells. The shared contribution of DO and Area II neurons to eye velocity storage likely represents an ancestral condition in goldfish that is clearly at variance with the task separation between mammalian medial vestibular and prepositus hypoglossi neurons. This difference in signal processing between fish and mammals might correlate with a larger repertoire of visuo-vestibular-driven eye movements in the latter species that potentially required a shift in sensitivity and connectivity within the hindbrain-cerebello-oculomotor network. NEW & NOTEWORTHY We describe the structure and function of neurons within the goldfish descending octaval nucleus. Our findings indicate that eye and head velocity signals are processed by vestibular and Area II velocity storage integrator circuitries whereas the velocity-to-position Area I neural integrator generates eye position solely. This ancestral condition differs from that of mammals, in which vestibular neurons generally lack eye position signals that are processed and stored within the nucleus prepositus hypoglossi.

Meibografía infrarroja y evaluación molecular de la mutación del gen p63 en un paciente mexicano con síndrome EEC / Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC síndrome

OBJETIVO: Reportar el hallazgo de la meibografía infrarroja en un paciente mexicano con el síndrome de EEC (Ectrodactyly-ectodermal dysplasia-cleft syndrome) confirmado por análisis molecular del gen p63. CASO CLÍNICO: Paciente varón de 31 años de edad que acude por presentar una historia de pérdida visual progresiva en ambos ojos asociada a fotofobia de larga duración. El paciente nació con labio y paladar hendido, y ectodactilia de la mano derecha; posteriormente presentó displasia ungueal, anodoncia y alopecia, con lo que se diagnosticó displasia ectodérmica. Las alteraciones oftalmológicas se limitaron a los anexos y la superficie ocular. La meibografía infrarroja in vivo mostró la ausencia total de glándulas de Meibomio en los párpados inferiores y deficiencia severa en los párpados superiores. Además, identificamos que el paciente es un portador heterocigoto de una mutación de sentido equivocado R304W (C -> T) en el exón 8 del gen p63. DISCUSIÓN: La mutación R304W en la región del gen p63 está definitivamente relacionada con características tales como la ausencia de glándulas de Meibomio

OBJECTIVE: To report the finding of infrared meibography in a Mexican patient with EEC syndrome (Ectrodactyly-ectodermal dysplasia-cleft syndrome) confirmed by molecular analysis of the p63 gene. Clinical case: A 31 year-old male patient was seen due to a history of progressive visual loss in both eyes associated with long-term photophobia. The patient was born with cleft lip and palate, ectrodactyly of right hand, and afterwards, displayed nail dysplasia, anodontia and alopecia, with which ectodermal dysplasia was diagnosed. The ophthalmological findings were limited to the adnexa and the ocular surface. In vivo infrared meibography showed total absence of Meibomian glands in the lower eyelids and severe deficiency in the upper eyelids. In addition, it was shown that the patient was a heterozygous carrier of a missense mutation R304W (C -> T) in exon 8 of the p63 gene. DISCUSSION: The R304W mutation in the p63 gene region is definitely related to characteristics such as the absence of Meibomian glands

Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome. / Meibografía infrarroja y evaluación molecular de la mutación del gen p63 en un paciente mexicano con síndrome EEC.

OBJECTIVE: To report the finding of infrared meibography in a Mexican patient with EEC syndrome (Ectrodactyly-ectodermal dysplasia-cleft syndrome) confirmed by molecular analysis of the p63 gene. CLINICAL CASE: A 31 year-old male patient was seen due to a history of progressive visual loss in both eyes associated with long-term photophobia. The patient was born with cleft lip and palate, ectrodactyly of right hand, and afterwards, displayed nail dysplasia, anodontia and alopecia, with which ectodermal dysplasia was diagnosed. The ophthalmological findings were limited to the adnexa and the ocular surface. In vivo infrared meibography showed total absence of Meibomian glands in the lower eyelids and severe deficiency in the upper eyelids. In addition, it was shown that the patient was a heterozygous carrier of a missense mutation R304W (C → T) in exon 8 of the p63 gene. DISCUSSION: The R304W mutation in the p63 gene region is definitely related to characteristics such as the absence of Meibomian glands.

Typha latifolia as potential phytoremediator of 2,4-dichlorophenol: Analysis of tolerance, uptake and possible transformation processes.

2,4-Dichlorophenol (2,4-DCP) is considered a priority pollutant due to its high toxicity. Therefore, it is urgent to develop technologies for the disposal of this pollutant. Various remediation processes have been proposed for the elimination of 2,4-DCP in contaminated water, however, most of them involve high costs of operation and maintenance. This study aimed to determine the capacity of remediation of 2,4-DCP in water by Typha latifolia L. wild plants. For that, the tolerance, removal, accumulation and biotransformation of 2,4-DCP by T. latifolia were investigated. The plants were exposed to 2,4-DCP solutions with a concentration range from 1.5 to 300 mgL-1 for 10 days. They exhibited a reduction in chlorophyll levels and growth rate when 2,4-DCP solutions were ≥30 mgL-1 and ≥50 mgL-1, respectively. The removal of contaminant was dose-depended, being 99.7% at 1.5-3 mgL-1, 59-70% at 10-70 mgL-1 and 35-42% at 100-300 mgL-1 of 2,4-DCP in the solution. Studies indicated that 2,4-DCP was mainly accumulated in root tissue rather than in shoot tissue. Acid hydrolysis of biomass extracts suggests 2,4-DCP bioconjugates formation in root tissue as a response mechanism. Additionally, an increment in glutathione S-transferase (GST) activity could indicate a 2,4-DCP conjugation with glutathione as a detoxification mechanism of T. latifolia.

Neuroprotective effects of NGF, BDNF, NT-3 and GDNF on axotomized extraocular motoneurons in neonatal rats.

Neurotrophic factors delivered from target muscles are essential for motoneuronal survival, mainly during development and early postnatal maturation. It has been shown that the disconnection between motoneurons and their innervated muscle by means of axotomy produces a vast neuronal death in neonatal animals. In the present work, we have evaluated the effects of different neurotrophic factors on motoneuronal survival after neonatal axotomy, using as a model the motoneurons innervating the extraocular eye muscles. With this purpose, neonatal rats were monocularly enucleated at the day of birth (postnatal day 0) and different neurotrophic treatments (NGF, BDNF, NT-3, GDNF and the mixture of BDNF+GDNF) were applied intraorbitally by means of a Gelfoam implant (a single dose of 5 µg of each factor). We first demonstrated that extraocular eye muscles of neonatal rats expressed these neurotrophic factors and therefore constituted a natural source of retrograde delivery for their innervating motoneurons. By histological and immunocytochemical methods we determined that all treatments significantly rescued extraocular motoneurons from axotomy-induced cell death. For the dose used, NGF and GDNF were the most potent survival factors for these motoneurons, followed by BDNF and lastly by NT-3. The simultaneous administration of BDNF and GDNF did not increase the survival-promoting effects above those obtained by GDNF alone. Interestingly, the rescue effects of all neurotrophic treatments persisted even 30 days after lesion. The administration of these neurotrophic factors, with the exception of NT-3, also prevented the loss of the cholinergic phenotype observed by 10 days after axotomy. At the dosage applied, NGF and GDNF were revealed again as the most effective neuroprotective agents against the axotomy-induced decrease in ChAT. Two remarkable findings highlighted in the present work that contrasted with other motoneuronal types after neonatal axotomy: first, the extremely high efficacy of NGF as a neuroprotective agent and, second, the long-lasting effects of neurotrophic administration on cell survival and ChAT expression in extraocular motoneurons.

[Serious complications after pulmonary radiofrequency ablation: report of 2 cases]. / Dos casos de complicaciones graves tras radiofrecuencia pulmonar.

Radiofrequency ablation can be used to treat primary or metastatic pulmonary tumors when surgery is not indicated or involves high risk. Although this technique is less invasive than surgical resection, it is not free of risk for complications and adverse events, especially when it is used in patients with serious respiratory disease in whom comorbidity is common. We report 2 cases of serious complications. One was an intractable air leak that led to death. The other was a large hemothorax that was brought under control in the radiology procedure room. We review the literature on this technique as well as recommendations that contribute to making it as safe as possible.

[Thrombosis of the cavernous sinus following prone-position spinal surgery in a patient with factor V Leiden]. / Trombosis de seno cavernoso tras una cirugía raquídea en decúbito prono en un paciente portador del factor V de Leiden.

INTRODUCTION: Non-infectious thrombosis of the cavernous sinus has sometimes been reported as a complication following neurosurgical procedures and, in one case, after carrying out the operation in a prone position. Factor V Leiden is a genetic risk factor for presenting an intracranial venous thrombotic disease. We report the case of a patient who suffered thrombosis of the cavernous sinus following prolonged surgery in the prone position and in whom a mutation of factor V Leiden in a heterozygotic state was discovered. CASE REPORT: A 64-year-old male, with arterial hypertension as the only known vascular risk factor, who, after prolonged surgery in a prone position, presented amaurosis in the left eye accompanied some hours later by ocular pain, conjunctival ecchymosis, proptosis and abolition of extrinsic ocular mobility. An angiography scan confirmed the existence of thrombosis in the cavernous sinus. Treatment was established with low-molecular-weight heparin without the occurrence of any other kinds of complications. The patient gradually recovered extrinsic ocular mobility but not visual acuity. A heterozygotic mutation for factor V Leiden was found in a hypercoagulability study that was later performed. CONCLUSIONS: The coexistence of a risk factor for presenting a venous thrombotic disease and a mechanical phenomenon, venous statis, due to the posture adopted for the surgical intervention together account for the complication presented by the patient.

Axial interface optical phonon modes in a double-nanoshell system.

Within the framework of the dielectric continuum (DC) model, we analyze the axial interface optical phonon modes in a double system of nanoshells. This system is constituted by two identical equidistant nanoshells which are embedded in an insulating medium. To illustrate our results, typical II-VI semiconductors are used as constitutive polar materials of the nanoshells. Resolution of Laplace's equation in bispherical coordinates for the potentials derived from the interface vibration modes is made. By imposing the usual electrostatic boundary conditions at the surfaces of the two-nanoshell system, recursion relations for the coefficients appearing in the potentials are obtained, which entails infinite matrices. The problem of deriving the interface frequencies is reduced to the eigenvalue problem on infinite matrices. A truncating method for these matrices is used to obtain the interface phonon branches. Dependences of the interface frequencies on the ratio of inter-nanoshell separation to core size are obtained for different systems with several values of nanoshell interdistance. Effects due to the change of shell and embedding materials are also investigated in interface phonon modes.

[Beta-cell, thyroid and celiac autoimmunity in children with type 1 diabetes]. / Autoinmunidad pancreática, tiroidea y relacionada con la celiaquía en niños con diabetes mellitus tipo 1.

OBJECTIVE: The aim of this study was to evaluate the presence of beta-cell, thyroid and coeliac autoimmunity in children with recent-onset type 1 diabetes. METHODS: We studied all children with newly diagnosed type 1 diabetes. Data were analyzed from 63 children aged 2-14 years who were treated in the Department of Pediatrics of the Virgen de las Nieves University Hospital in Granada (Spain) from 1998-2002. Antibodies to glutamic acid decarboxylase-65 (GADA), anti-insulin (AIA), thyroperoxidase (anti-TPO), thyroglobulin (anti-TG), thyroid-stimulating immunoglobulins (TSI) and endomysial antibodies (EmA-IgA) were measured and documented. A total of 55.5 % of these patients were girls and the mean age was 7.9 +/- 3.2 years. RESULTS: The prevalence rates were: GADA 65.1 %; AIA 68.3 %; anti-TPO 11.1 %; anti-TG 9.5 %; TSI 4.8 % and EmA-Ig A 3.1 %. Children with thyroid antibodies (anti-TPO1) were significantly older and developed diabetes later in life (P < 0.05) than those without antibodies. Thyroid-stimulating hormone levels, goiter and thyroid dysfunction were higher in children who were anti-TPO1 than in diabetic children without thyroid autoimmunity. CONCLUSIONS: Children with newly diagnosed type 1 diabetes show a high prevalence of thyroid and coeliac autoimmunity. In cases of positivity, additional work-up and intervention are advocated. These measures can prevent the well-known complications of diabetes and improve its clinical course.

Autoinmunidad pancreática, tiroidea y relacionada con la celiaquía en niños con diabetes mellitus tipo 1 / Beta-cell, thyroid and coeliac autoimmunity in children with type 1 diabetes

Objetivo: El objetivo de este estudio ha sido investigar en niños que presentan diabetes mellitus tipo 1 (DM1) la presencia de autoinmunidad pancreática, tiroidea y relacionada con la celiaquía. Métodos: Se incluyeron todos los niños que presentaron DM1. Se analizaron datos de 63 niños con un rango de edad de 2 a 14 años, que fueron tratados en el centro maternoinfantil del hospital universitario Virgen de las Nieves de Granada durante el período 1998-2002. Se midieron y registraron los anticuerpos antiglutamato descarboxilasa (GADA), antiinsulina (AAI), antiperoxidasa tiroidea (anti-TPO), antitiroglobulina (anti-TG), inmunoglobulinas estimulantes del tiroides (TSI) y anticuerpos antiendomisio (AAE-IgA) relacionados con la enfermedad celíaca. El 55,5 por ciento de los pacientes eran de sexo femenino, la edad media fue de 7,9 +/- 3,2 años. Resultados: El porcentaje de positividad para los distintos anticuerpos fue: GADA, 65,1 por ciento; AAI, 68,3 por ciento; anti-TPO, 11,1 por ciento; anti-TG, 9,5 por ciento; TSI, 4,8 por ciento y AAE-IgA, 3,1 por ciento. Los niños con autoinmunidad tiroidea presente eran en el momento del diagnóstico de su diabetes de mayor edad y desarrollaban su enfermedad más tarde que los niños sin autoinmunidad tiroidea. Los pacientes anti-TPO positivos presentaban niveles más elevados de hormona tirostimulante, mayor prevalencia de bocio y disfunción tiroidea que los niños sin anti-TPO. Conclusiones: Los niños que presentan DM1 presentan una alta prevalencia de autoinmunidad tiroidea y relacionada con la enfermedad celíaca. En caso de presentar estos marcadores positivos es preciso prestar especial atención a la posible asociación de otras enfermedades, completando los estudios que se precisen. Estas medidas pueden prevenir complicaciones y mejorar la evolución de la enfermedad diabética (AU)

Teratoma congénito cervicofacial / Congenital cervicofacial teratoma

El teratoma congénito es el tumor más frecuente en el periodo neonatal. Su presentación habitual es en la zona sacrococcígea; sin embargo, puede mostrarse en otras localizaciones. Presentamos un caso de teratoma congénito cervicofacial gigante, en un recién nacido de 29 semanas de edad gestacional. La ecografía prenatal mostraba una tumoración con lesiones quísticas múltiples no identificadas. Se realizó cesárea electiva y falleció tras su ejecución. La anatomía patológica confirmó el diagnóstico. El pronóstico de este tipo de teratomas congénitos es malo; su diagnóstico prenatal y la práctica de una cesárea no mejoran la viabilidad del recién nacido (AU)

Grafting of a new target prevents synapse loss in abducens internuclear neurons induced by axotomy.

The loss of afferent synaptic boutons is a prominent alteration induced by axotomy on adult central neurons. In this work we attempted to prove whether synapse loss could be reverted by reconnection with a new target. We severed the medial longitudinal fascicle of adult cats and then transplanted embryonic cerebellar primordia at the lesion site immediately after lesion. As previously shown, the transected axons from abducens internuclear neurons penetrate and reinnervate the graft [J Comp Neurol 444 (2002) 324]. By immunocytochemistry and electron microscopy we studied the synaptology of abducens internuclear neurons under three conditions: control, axotomy and transplant (2 months of survival time). Semithin sections of the abducens nucleus were immunostained against calretinin, to identify abducens internuclear neurons, and either synaptophysin (SF), to label synaptic terminals, or glial fibrillary acidic protein (GFAP) to detect the astrocytic reaction. Optical and linear density of SF and GFAP immunostaining were measured. Data revealed a significant decrease in the density of SF-labeled terminals with a parallel increase in GFAP-immunoreactive elements after axotomy. On the contrary, in the transplant group, the density of SF-labeled terminals was found similar to control, and the astrocytic reaction induced by lesion was significantly reduced. At the ultrastructural level, synaptic coverage and linear density of boutons were measured around the somata of abducens internuclear neurons. Whereas a significant reduction in both parameters was found after axotomy, cells of the transplant group received a normal density of synaptic endings. The ratio between F- and S-type boutons was found similar in the three groups. Therefore, these findings indicate that the grafting of a new target can prevent the loss of afferent synaptic boutons produced by the axotomy.

¿Es suficiente la valoración cardiológica en la tetralogía de Fallot? / Is cardiological evaluation enough in Fallot's tetralogy?

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Utilización de supresores de la secreción ácida en pacientes hospitalizados / Use of acid-suppresive medications in hospitalized patients

Introducción: Los fármacos supresores de la acidez gástrica son frecuentemente utilizados, pero algunos estudios evidencian su mal uso, sobretodo en la profilaxis de la úlcera de estrés en pacientes con bajo riesgo. Este estudio evalúa su frecuencia y utilización de en pacientes hospitalizados en una planta de Medicina Interna. Material y métodos: Revisión aleatoria y retrospectiva de 209 historias clínicas de 661 pacientes ingresados durante el año 2000 en el servicio de Medicina Interna V Hospital General Universitario Gregorio Marañón (Cantoblanco). Definiciones: Utilización: Al menos una vez, a cualquier dosis y de cualquier fármaco antiácido. Indicación correcta: Criterios endoscópicos: Ulcera activa, Esofagitis y Gastritis. Criterios clínicos: síntomas de reflujo, dispepsia, mantenimiento por proceso previo, hemorragia digestiva alta activa, ingesta de antiinflamatorios no esteroideos, profilaxis de úlcera de estrés en pacientes con alto riesgo. Indicación incorrecta: Cualquier otra utilización no incluida anteriormente. Resultados: De 209 pacientes, 75,1 por ciento (157) los utilizaron, edad media de 76 años (23-99), mujeres 89 (56,7 por ciento) y hombres 68 (43,3 por ciento).Los diagnósticos más frecuentes al ingreso: ICC 34 (21,7 por ciento), Neumonía 26 (16,6 por ciento), ITU 24 (15,3 por ciento) y EPOC 18 (11,5 por ciento). La utilización en planta fue de 84,7 por ciento (133), con uso incorrecto 72,2 por ciento (96), la causa de uso incorrecto "sin razones" en 52,1 por ciento(50) y la medicación inhibidores bomba 46,9 por ciento (45). Conclusiones: Este estudio evidencia una alta utilización de fármacos inhibidores de la secreción ácida, de manera incorrecta en pacientes hospitalizados (AU)

Introduction: The acid-suppressive medications are used frequently in hospitalized patients, but some studies suggests that their are overused, especially in the treatment of stress ulcer prophylaxis in low-risk patients. This research determine the frequency of use and indications of acid-suppressive medications in hospitalized patients in a internal medical service. Materials and methods: A at random and retrospective revision of 209 medical records of 661 hospitalized patients during the year 2000 in the V Internal Medical Service of the General University Hospital of Gregorio Marañón (Cantoblanco). Definitions: Use: any prescription of an acid-suppressive medication, regardless of dosage regimen, in which the patient received at least one dose. Appropriated indication: endoscopical criteria: treatment of active ulcer disease, esophagitis or gastritis. Medical criteria: symptomatic gastroesophageal reflux, dyspepsia, prolonging of previous treatment, as a part of a treatment regimen for H. pylori, relief of dyspepsia caused by nonsteroidal anti-inflammatory drugs, stress ulcer prophylaxis in high risk patients. Inappropriate indication: any other uses were considered not indicated. Results: Of the 209 patients, a total of 157 (75,1%) received acid-suppressive therapy, average age 76 years old, 89 women (56,7%) and 68 men (43,3%). The admitting diagnoses for the admission were: CHF 34 (21,7%), Pneumonia ( 16,6%), UTI (15,3%) y COPD 18 (11,5%). The use in hospital ward was 84,7% (133), with inappropriate use 72,2% (96), the cause of prescription "no reason" 52,1% (50), and received proton pump inhibitors 46, 9% (45). Conclusions: This study show a high frequency of incorrect use of acid-suppressive medications in hospitalized patients (AU)

Intrinsic determinants of synaptic phenotype: an experimental study of abducens internuclear neurons connecting with anomalous targets.

The present experiments investigate the role of postsynaptic neurons in the morphological differentiation of presynaptic terminals that are formed de novo in the adult CNS. Abducens internuclear neurons in the adult cat were chosen as the experimental model. These neurons project onto the contralateral medial rectus motoneurons of the oculomotor nucleus. Abducens internuclear axon terminals were identified by their anterograde labeling with biocytin and analyzed at the electron microscopic level. To promote the formation of new synapses, two different experimental approaches were used. First, after the selective ablation of medial rectus motoneurons with ricin, abducens internuclear neurons reinnervated the neighboring oculomotor internuclear neurons. Second, after axotomy followed by embryonic cerebellar grafting, abducens internuclear axons invaded the implanted tissue and established synaptic connections in both the molecular and granule cell layer. Boutons contacting the oculomotor internuclear neurons developed ultrastructural characteristics that resembled the control synapses on medial rectus motoneurons. In the grafted cerebellar tissue, abducens internuclear axons and terminals did not resemble climbing or mossy fibers but showed similarities with control boutons. However, labeled boutons analyzed in the granule cell layer established a higher number of synaptic contacts than controls. This could reflect a trend towards the mossy fiber phenotype, although labeled boutons significantly differed in every measured parameter with the mossy fiber rosettes found in the graft. We conclude that at least for the abducens internuclear neurons, the ultrastructural differentiation of axon terminals reinnervating novel targets in the adult brain seems to be mainly under intrinsic control, with little influence by postsynaptic cells.

[Use of acid-suppressive medications in hospitalized patients]. / Utilización de supresores de la secreción ácida en pacientes hospitalizados.

INTRODUCTION: The acid-suppressive medications are used frequently in hospitalized patients, but some studies suggests that their are overused, especially in the treatment of stress ulcer prophylaxis in low-risk patients. This research determine the frequency of use and indications of acid-suppressive medications in hospitalized patients in a internal medical service. MATERIALS AND METHODS: A at random and retrospective revision of 209 medical records of 661 hospitalized patients during the year 2000 in the V Internal Medical Service of the General University Hospital of Gregorio Marañón (Cantoblanco). DEFINITIONS: Use: any prescription of an acid-suppressive medication, regardless of dosage regimen, in which the patient received at least one dose. Appropriated indication: endoscopical criteria: treatment of active ulcer disease, esophagitis or gastritis. Medical criteria: symptomatic gastroesophageal reflux, dyspepsia, prolonging of previous treatment, as a part of a treatment regimen for H. pylori, relief of dyspepsia caused by nonsteroidal anti-inflammatory drugs, stress ulcer prophylaxis in high risk patients. Inappropriate indication: any other uses were considered not indicated. RESULTS: Of the 209 patients, a total of 157 (75.1%) received acid-suppressive therapy, average age 76 years old, 89 women (56.7%) and 68 men (43.3%). The admitting diagnoses for the admission were: CHF 34 (21.7%), Pneumonia (16.6%), UTI (15.3%) y COPD 18 (11.5%). The use in hospital ward was 84.7% (133), with inappropriate use 72.2% (96), the cause of prescription "no reason" 52.1% (50), and received proton pump inhibitors 46.9% (45). CONCLUSIONS: This study show a high frequency of incorrect use of acid-suppressive medications in hospitalized patients.

Enfermedad de graves neonatal / Neonatal graves' disease

El hipertiroidismo neonatal se diagnostica en menos del 1 por ciento de los hijos de madres con enfermedad de Graves. Este síndrome se relaciona con el paso transplacentario de anticuerpos maternos estimuladores del tiroides (TSI). La enfermedad está limitada a un período de 4-12 semanas, que coincide con la disminución de los anticuerpos en el niño. Las manifestaciones clínicas del hipertiroidismo neonatal pueden aparecer en el momento del nacimiento o demorarse días o semanas si la madre ha sido tratada con antitiroideos hasta el momento del parto, o bien existen en el suero materno anticuerpos maternos bloqueadores del tiroides que pueden cruzar la placenta y producir hipotiroidismo transitorio en el recién nacido. Presentamos el caso de un niño con hipotiroidismo neonatal, como consecuencia del tratamiento materno, que presentó hipertiroidismo neonatal una semana después. Concluimos que todos los niños nacidos de madre con enfermedad de Graves requieren seguimiento de su función tiroide (AU)