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1.
Rehabilitación (Madr., Ed. impr.) ; 57(3): [100805], Jul-Sep. 2023.
Artigo em Espanhol | IBECS | ID: ibc-222923

RESUMO

El vértigo posicional paroxístico benigno (VPPB) se caracteriza por episodios cortos y bruscos de vértigo cuando la cabeza se mueve en posiciones específicas. El tratamiento son las terapias de reposición de partículas. En general el VPPB es subdiagnosticado, no reportado y por lo tanto no es tratado de forma adecuada. Presentamos el caso de un paciente con lesión medular y VPPB. Paciente de 72 años que sufre una fractura de C5 y como resultado una lesión medular C5 AIS C que necesitó la fijación quirúrgica. En la unidad de lesionados medulares se documentó VPPB del conducto semicircular lateral izquierdo y se trató mediante el uso de terapias de reposición específicas; el paciente mejoró progresivamente y pudo concluir el tratamiento rehabilitador. Las unidades de lesión medular con acceso a unidades de rehabilitación vestibular pueden realizar el diagnóstico y tratamiento específico del VPPB, minimizando los riesgos para el paciente.(AU)


Benign paroxysmal positional vertigo (BPPV) is characterized by short, sudden episodes of vertigo when the head moves in specific positions. The treatment is particle repositioning maneuvers. BPPV usually is underdiagnosed, unreported and therefore not adequately treated. We present the case of a patient with spinal cord injury and BPPV. A 72-year-old patient who suffered a C5 fracture with spinal cord injury C5 AIS C that required surgical fixation. In the spinal cord injury unit BPPV of the left lateral semicircular canal was documented and treated using specific repositioning maneuvers, the patient progressively improved and was able to complete the rehabilitation treatment. The spinal cord injury unit with access to vestibular rehabilitation units can carry out the diagnosis and specific treatment of BPPV, minimizing the risks for the patient.(AU)


Assuntos
Humanos , Masculino , Idoso , Vertigem Posicional Paroxística Benigna/reabilitação , Vertigem Posicional Paroxística Benigna/diagnóstico , Pacientes Internados , Exame Físico , Medicina Física e Reabilitação , Reabilitação
2.
Rehabilitacion (Madr) ; 57(3): 100805, 2023.
Artigo em Espanhol | MEDLINE | ID: mdl-37352599

RESUMO

Benign paroxysmal positional vertigo (BPPV) is characterized by short, sudden episodes of vertigo when the head moves in specific positions. The treatment is particle repositioning maneuvers. BPPV usually is underdiagnosed, unreported and therefore not adequately treated. We present the case of a patient with spinal cord injury and BPPV. A 72-year-old patient who suffered a C5 fracture with spinal cord injury C5 AIS C that required surgical fixation. In the spinal cord injury unit BPPV of the left lateral semicircular canal was documented and treated using specific repositioning maneuvers, the patient progressively improved and was able to complete the rehabilitation treatment. The spinal cord injury unit with access to vestibular rehabilitation units can carry out the diagnosis and specific treatment of BPPV, minimizing the risks for the patient.


Assuntos
Medula Cervical , Traumatismos da Medula Espinal , Humanos , Idoso , Vertigem Posicional Paroxística Benigna/terapia , Vertigem Posicional Paroxística Benigna/diagnóstico , Posicionamento do Paciente , Canais Semicirculares , Traumatismos da Medula Espinal/complicações
3.
Braz J Med Biol Res ; 54(11): e11396, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34586326

RESUMO

Current understanding of the genetic factors contributing to the etiology of non-syndromic craniosynostosis (NSC) remains scarce. The present work investigated the presence of variants in ALX4, EFNA4, and TWIST1 genes in children with NSC to verify if variants within these genes may contribute to the occurrence of these abnormal phenotypes. A total of 101 children (aged 45.07±40.94 months) with NSC participated in this cross-sectional study. Parents and siblings of the probands were invited to participate. Medical and family history of craniosynostosis were documented. Biological samples were collected to obtain genomic DNA. Coding exons of human TWIST1, ALX4, and EFNA4 genes were amplified by polymerase chain reaction and Sanger sequenced. Five missense variants were identified in ALX4 in children with bilateral coronal, sagittal, and metopic synostosis. A de novo ALX4 variant, c.799G>A: p.Ala267Thr, was identified in a proband with sagittal synostosis. Three missense variants were identified in the EFNA4 gene in children with metopic and sagittal synostosis. A TWIST1 variant occurred in a child with unilateral coronal synostosis. Variants were predicted to be among the 0.1% (TWIST1, c.380C>A: p. Ala127Glu) and 1% (ALX4, c.769C>T: p.Arg257Cys, c.799G>A: p.Ala267Thr, c.929G>A: p.Gly310Asp; EFNA4, c.178C>T: p.His60Tyr, C.283A>G: p.Lys95Glu, c.349C>A: Pro117Thr) most deleterious variants in the human genome. With the exception of ALX4, c.799G>A: p.Ala267Thr, all other variants were present in at least one non-affected family member, suggesting incomplete penetrance. Thus, these variants may contribute to the development of craniosynostosis, and should not be discarded as potential candidate genes in the diagnosis of this condition.


Assuntos
Craniossinostoses , Sequência de Bases , Criança , Craniossinostoses/genética , Estudos Transversais , Proteínas de Ligação a DNA/genética , Família , Humanos , Mutação de Sentido Incorreto/genética , Fatores de Transcrição/genética
4.
Braz. j. med. biol. res ; 54(11): e11396, 2021. graf
Artigo em Inglês | LILACS | ID: biblio-1339444

RESUMO

Current understanding of the genetic factors contributing to the etiology of non-syndromic craniosynostosis (NSC) remains scarce. The present work investigated the presence of variants in ALX4, EFNA4, and TWIST1 genes in children with NSC to verify if variants within these genes may contribute to the occurrence of these abnormal phenotypes. A total of 101 children (aged 45.07±40.94 months) with NSC participated in this cross-sectional study. Parents and siblings of the probands were invited to participate. Medical and family history of craniosynostosis were documented. Biological samples were collected to obtain genomic DNA. Coding exons of human TWIST1, ALX4, and EFNA4 genes were amplified by polymerase chain reaction and Sanger sequenced. Five missense variants were identified in ALX4 in children with bilateral coronal, sagittal, and metopic synostosis. A de novo ALX4 variant, c.799G>A: p.Ala267Thr, was identified in a proband with sagittal synostosis. Three missense variants were identified in the EFNA4 gene in children with metopic and sagittal synostosis. A TWIST1 variant occurred in a child with unilateral coronal synostosis. Variants were predicted to be among the 0.1% (TWIST1, c.380C>A: p. Ala127Glu) and 1% (ALX4, c.769C>T: p.Arg257Cys, c.799G>A: p.Ala267Thr, c.929G>A: p.Gly310Asp; EFNA4, c.178C>T: p.His60Tyr, C.283A>G: p.Lys95Glu, c.349C>A: Pro117Thr) most deleterious variants in the human genome. With the exception of ALX4, c.799G>A: p.Ala267Thr, all other variants were present in at least one non-affected family member, suggesting incomplete penetrance. Thus, these variants may contribute to the development of craniosynostosis, and should not be discarded as potential candidate genes in the diagnosis of this condition.


Assuntos
Humanos , Criança , Craniossinostoses/genética , Fatores de Transcrição/genética , Sequência de Bases , Família , Estudos Transversais , Mutação de Sentido Incorreto/genética , Proteínas de Ligação a DNA/genética
5.
Sci Total Environ ; 652: 1102-1112, 2019 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-30586797

RESUMO

Estuaries are highly productive ecosystems, defined by salt-freshwater exchanges that are significantly altered by changes upstream and in adjacent coastal areas. Tropical estuaries are characterized by the periodic advance and retreat of saline intrusion, depending on seasonality, episodic river flows and flooding events. Salt-water intrusion due to the estuarine dynamics might be affected by dam systems, which could modify the hydrological regime of the estuary in relation to other stressors, such as land use changes. For this purpose, field measurements of salinity, temperature, river-discharge and flow velocities were conducted over a year to analyze the current hydrological regime in the upper estuary of the Grijalva River in the southern Gulf of Mexico, part of the Biosphere Reserve "Pantanos de Centla", one of the most biodiverse areas in the world. Analysis of land use and vegetation cover was performed. Historical implications of the hydrological performance of the four-dam system (1957 to 2014) are presented, together with the upstream-induced changes (i.e. discharge and seasonal water volumes variations): before, between and after the full operation of the dam system. A general loss of seasonality in the river discharge was identified (1974-1987), when critical mean annual water discharges were registered (Qmean from 263.56 to 126.49 m3/s). Chronological changes in the estuary and in the surrounding area due to the introduction of large extensions of cultivated grassland (~1020 km2), reduction in mangrove cover (~223 km2) and tular (~1340 km2) were noticed. These modifications mostly occurred before conservation strategies were implemented, such as the designation of the Biosphere Reserve (1992). This study contributes to a better understanding of the response of estuarine systems to anthropic perturbations and the development of long-term management plans that could take into account climate change and the increase of hydropower development.

6.
Food Res Int ; 109: 168-174, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29803439

RESUMO

It is known that certain lactic acid bacterial (LAB) strains can produce folates, a B-group vitamin that cannot be synthesized by humans and must be exogenously obtained. The aim of this study was to select folate-producing LAB and evaluate their probiotic characteristics in order to obtain a tuber-based food with elevated folate content. Several LAB strains were isolated from a traditional Andean fermented potato product tocosh and cultured in folate-free culture medium. Five folate-producing strains (29-138 ng/mL) were selected to ferment three Andean tubers (potato S. tuberosum spp. andigena, oca Oxalis tuberosa and papalisa Ullucus tuberosus). Sterile purees were inoculated and samples were collected at 0, 6 and 24 h of fermentation and after 28 days of cold storage. Cell growth, pH and total folate were determined. All selected strains were able to grow and produce folates in the substrates and two Lactobacillus sakei strains, CRL 2209 and CRL 2210, produced the highest folate concentrations (730-1484 ng/g after 24 h fermentation). These strains were selected to ferment potato substrates supplemented with amaranth (Amaranthus caudathus) and chia (Salvia hispanica) flour to increase the nutritional value. This addition increased folate synthesis in 89-95%. Furthermore, the ability to survive under simulated gastrointestinal conditions was evaluated and cell counts of the 5 strains remained above the recommended for a probiotic candidate (8.0 log CFU/mL). In conclusion, the selected LAB could be considered potentially probiotic strains and could be used to produce novel tuber based products with elevated folate concentrations. These products could also be used as novel food matrixes for the delivery of probiotic microorganisms.


Assuntos
Ácido Fólico/análise , Lactobacillales/metabolismo , Probióticos/metabolismo , Solanum tuberosum/metabolismo , Solanum tuberosum/microbiologia , Fermentação , Ácido Fólico/metabolismo , Tecnologia de Alimentos , Modelos Biológicos , Tubérculos
7.
Rev. esp. pediatr. (Ed. impr.) ; 70(1): 33-37, ene.-feb. 2014.
Artigo em Espanhol | IBECS | ID: ibc-121774

RESUMO

Introducción. En la práctica de la medicina de emergencia es necesario conocer el peso del niño al planificar las intervenciones terapéuticas. La mayoría de las dosis de los fármacos se calculan por kilogramo. El método más exacto para determinar el peso de un niño es pesarlo pero esto no siempre es posible en la reanimación de un niño grave. Existen diversos métodos para estimar el peso, entre los que sobresalen las fórmulas de APLS, APLS 2011, Argall y Luscombe. Pacientes y métodos. Estudio prospectivo observación al de cohortes realizado en nuestro servicio de urgencias pediátricas, entre los niños (rango de edad 2-10 años) atendidos durante el periodo del 01 de septiembre 2012 al 31 de septiembre de 2013. Se obtuvieron el peso real, la edad y el sexo. Los datos se analizaron mediante estadística descriptiva comparando el peso estimado usando las diferentes fórmulas y diferenciando con el pesio medido. Resultados. Fueron incluidos 450 casos y la mayor parte de las fórmulas utilizadas infraestiman el peso real. Conclusiones. La estimación de peso sigue siendo de suma importancia en la reanimación pediátrica. Este estudio muestra que las fórmulas de estimación actual proporcionan una subestimación significativa del peso de los niños (AU)


Introduction. In the practice of emergency medicine, it is necessary to know a child's weight when planning therapeutic interventions. The majority of drug dosages are calculated on a per kilogram basis. The most accurate method of determining a child's weigh is to weigh the child on scales but when resuscitating a critically ill child this is not always practicable. There are several methods to estimate the weight, including the APLS, APLS 2011, Argall y Luscombe. Material and methods. A prospective observational conhort study permormed in our pediatric emergency department among children (age ranged 2-10 years) who presented to the ED during September 1, 2012, to September 31, 2013. Actual weight, age and sex were obtained. Data were analyzed by descriptive statistics compared between estimated weight using the differents formulas and measured weight is reported. Results. 450 cases were included and the most part of the formulas used underestimate the actual weight. Conclusions. Weight estimation remains of paramount importance in paediatric resuscitation. This study shows that the current estimation formulas provides a significant underestimate of children's weights (AU)


Assuntos
Humanos , Masculino , Feminino , Lactente , Peso-Estatura , Pesos e Medidas Corporais/métodos , Antropometria/métodos , Serviços Médicos de Emergência/métodos , Tratamento de Emergência/métodos , Estudos Prospectivos
9.
Acta pediatr. esp ; 69(10): 479-482, nov. 2011. ilus
Artigo em Espanhol | IBECS | ID: ibc-99263

RESUMO

La rotura traqueal postintubación (RTP) es una complicación infrecuente, que exige un alto grado de sospecha clínica debido a su elevada morbimortalidad. Debe sospecharse en los pacientes que presentan enfisema subcutáneo, neumotórax y/o neumomediastino tras la intubación. Actualmente no existe consenso sobre su tratamiento, quirúrgico o conservador. Presentamos un caso de RTP que respondió favorablemente al tratamiento conservador(AU)


Post-intubation tracheal rupture (PTR) is a rare complication that requires a high degree of clinical suspicion due to its high morbidity and mortality. It should be suspected in all patients who present subcutaneous emphysema, pneumothorax, and/or pneumomediastinum after intubation. There is no current consensus on surgical or conservative treatment. We report 1 case of PTR that responded favorably to conservative treatment(AU)


Assuntos
Humanos , Enfisema Subcutâneo/etiologia , Intubação Intratraqueal/efeitos adversos , Enfisema Mediastínico/etiologia , Doença Iatrogênica
10.
Rev. esp. pediatr. (Ed. impr.) ; 67(5): 261-265, sept.-oct. 2011. graf
Artigo em Espanhol | IBECS | ID: ibc-101716

RESUMO

Introducción. La varicela es una enfermedad viral aguda propia de la infancia y altamente contagiosa que se manifiesta, de forma habitual, por síntomas leves asociados a una erupción vesicular con formación final de costras. Sin embargo, esta infección puede ocasionar complicaciones importantes en diferentes órganos y sistemas y causar, incluso, la muerte del paciente. Pacientes y métodos. Se revisan de forma retrospectiva las historias clínicas de los niños hospitalizados por complicaciones en el contexto de varicela entre el año2005 y el 2009. Se estudiaron las siguientes variables: edad, sexo, antecedentes personales, vacuna antivaricela, presencia o no de inmunodepresión, exámenes complementarios, duración del ingreso, tratamiento, diagnósticos al alta, evolución, complicaciones y secuelas al alta. Resultados. La muestra consta de 25 niños, con una edad media de 2,4 años; 92% eran menores de 5 años. Ninguno había sido vacunado contra el virus varicela-zoster. Ningún niño se encontraba inmunodeprimido. La duración media de ingreso fue e 5,16 días. Las complicaciones más frecuentes fueron las infecciosas, entre ellas, las infecciones cutáneas bacterianas (88%), seguidas de las neurológicas (8%) y de las renales (4%). Conclusiones. A pesar de su aparente benignidad, la varicela y sus complicaciones presentan una elevada morbilidad y un importe coste social que apoyan la introducción de la vacunación universal (AU)


Introduction. Varicella is an acute viral disease own of the childhood. Highly contagious, that pronounces with slight symptoms associate to a vesicular eruption with a final scab formation; but that can get to present different types from complications at different organs and systems from important way causing the death of the patient. Patients and methods. We retrospectively reviewed the medical records of children hospitalized with complications in the context of the disease between 2005 and 2009. The variables studied are: age, gender, personal history, varicella immunization, immune status, complementary investigations, length of hospital stay, treatment, discharge diagnosis, clinical course, complications and sequelae at discharge. Results. Our sample consists of 25 children, with an average age of 2.4 years; 92% were younger than 5 years. None had been vaccinated against the Varicella-Zoster virus. More of the children were inmunodeficient. The average stay total income was 5,16 days. The most frequent complications were the skin (88%), followed by neurological (8%) and renal complications (4%). Conclusions. Despite his usual mild, Varicella and its complications have a high morbidity and an important social cost that support the introduction of universal vaccination (AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Varicela/epidemiologia , Herpesvirus Humano 3/patogenicidade , Vacina contra Varicela/administração & dosagem , Estudos Retrospectivos , Hospitalização/estatística & dados numéricos , Varicela/complicações
11.
Acta pediatr. esp ; 69(5): 201-206, mayo 2011. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-90403

RESUMO

Introducción: Las visitas de los recién nacidos a los servicios de urgencias producen una gran ansiedad en sus padres y en el personal de urgencias. Como resultado de una estancia hospitalaria posparto cada vez más corta, muchas de las dudas de puericultura que se gestionaban en las maternidades aparecen en el servicio de urgencias. La educación de los padres es fundamental para disminuir la ansiedad y resolver dudas e inquietudes, y de esta forma disminuir la congestión en estos servicios, los costes y todas las implicaciones que esto conlleva. Material y métodos: Revisión retrospectiva de los informes de urgencias de los neonatos (menores de 28 días de vida) atendidos en el servicio de urgencias durante 2009. Se analizan los siguientes datos: edad, sexo, hora y fecha de llegada, etnia de los padres, derivación por parte de otro médico/centro, motivo de consulta, exploraciones complementarias, diagnóstico final y destino del paciente. Resultados: Se realizaron 415 visitas de pacientes con una media de edad de 12,5 días. El 51,3% eran varones. La mayor presión asistencial se registró en el turno de tarde y en los meses de mayo y diciembre. El principal motivo de consulta fue la ictericia (15,4%) y los cambios del ritmo intestinal (14,4%). El 27,5% eran hijos de inmigrantes. Los diagnósticos más frecuentes fueron las dudas de puericultura (35,9%) y la ictericia (15,7%). El 70,8% no precisó exploraciones complementarias. La proporción de ingresos fue del 12%, principalmente por ictericia (3,9%) y fiebre sin foco (1,7%). Conclusiones: La gran mayoría de las consultas corresponden a una patología menor que no precisa exploraciones complementarias, y que podría ser resuelta en centros de atención primaria (AU)


Introduction: The visits to the emergency services by the newborn babies can cause a great anxiety in their parents and in the emergency department staff. As a result of a shorter postpartum hospital stay, many childcare concerns, which traditionally have been managed in newborn nurseries, are appearing in the pediatric emergency department. The parents’ education is fundamental to diminish the anxiety and to solve doubts and concern, and in that form diminish the congestion in these services, costs and all the implications that this brings. Material and methods: We performed a retrospective study of patients younger than 28 days old of life who were attended at the pediatric emergency department in 2009. Information on sex, age, time and date, parents ethnic group, referral by another medical doctor/center, cause of consultation, complementary examinations, final diagnosis, and patients admission. Results: There were 415 visits to newborn babies. The mean chronological age was 12.5 days, 51.3 % were boys. Visits were most frequent on evening shifts, and in the months of May and December. The most frequent main complaint was jaundice (15.4%) and changes in intestinal rhythm (14.4%).27.5% were children of immigrants. The most frequent final diagnoses were childcare concerns (35.9%) and jaundice (15.7%). Complementary examinations were not required in 70.8%.The admission rate was of 12%, most commonly due to jaundice (3.9%) and fever (1.7%). Conclusions: The vast majority of visits were due to minor problems that did not require complementary examinations and could have been resolved in primary care centers (AU)


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Serviços Médicos de Emergência/estatística & dados numéricos , Doenças do Recém-Nascido/epidemiologia , Tratamento de Emergência/estatística & dados numéricos , Causalidade , Morbidade , Serviços de Saúde da Criança/estatística & dados numéricos
12.
Rev. esp. pediatr. (Ed. impr.) ; 67(2): 105-107, mar.-abr. 2011.
Artigo em Espanhol | IBECS | ID: ibc-101698

RESUMO

El tratamiento de los tumores del sistema nerviosos central consta de cirugía, radioterapia y/o quimioterapia, lo que ha aumentado significativamente los índices de superviviente, pero asociando, a cambio, múltiples complicaciones. De ellas, una proporción importante son de tipo endocrinológico. Presentamos un caso de microadenoma hipofisario productor de ACTH (enfermedad de Cushing) y su evolución tras 7 años de control post radioterapia craneal (AU)


The treatment of the tumors of central nervous system consist of surgery, radiation or chemotherapy, which has significantly increased survival rates, but associating in Exchange, multiple complications. Of them, a significant proportion is endocrinological. We present a case of microadenoma hipofisario producing ACTH (Cushing´s disease) and its evolution after 7 years of control post cranial radiation (AU)


Assuntos
Humanos , Hipersecreção Hipofisária de ACTH/complicações , Adenoma Hipofisário Secretor de ACT/radioterapia , Doenças do Sistema Endócrino/etiologia , Lesões por Radiação/complicações , Neoplasias do Sistema Nervoso Central/radioterapia
13.
Rev. esp. pediatr. (Ed. impr.) ; 67(2): 115-117, mar.-abr. 2011. ilus
Artigo em Espanhol | IBECS | ID: ibc-101701

RESUMO

La hidatidosis es una de las más importantes parasitosis zoonóticas de los países mediterráneos y de Sudamérica, en los que constituye un importante problema de salud. El contagio humano ocurre fundamentalmente en la infancia, por mecanismos de transmisión fecal-oral, al ingerir los huevos del parásito. En general, los pacientes permanecen asintomáticos durante mucho tiempo, debido al crecimiento lento de los quistes que pueden afectar a cualquier órgano de la anatomía, aunque se localizan en la mayoría de los casos en hígado y pulmón. Su diagnóstico se realiza fundamentalmente por técnicas de imagen y su tratamiento sigue siendo eminentemente quirúrgico (AU)


Hydatidosis is one of the most important zoonotic parasitic diseases of Mediterranean and South American countries where they constitute a significant health problem. The human contagion happens fundamentally in the infancy, by faecal-oral transmission, because of parasite´s eggs ingestion. In general the patients remain asymptomatic for a long time, due to the sluggish growth of the cysts that can concern any organ of the anatomy, though they are located in the majority of the cases in liver and lung. Its diagnosis is realized essentially by image techniques and its treatment continues being eminently surgical (AU)


Assuntos
Humanos , Equinococose/complicações , Insuficiência de Múltiplos Órgãos/parasitologia , Diagnóstico por Imagem/métodos , Equinococose/cirurgia
15.
Rev. esp. pediatr. (Ed. impr.) ; 66(6): 385-387, nov.-dic. 2010. tab
Artigo em Espanhol | IBECS | ID: ibc-92177

RESUMO

La diabetes MODY (maturity onset diabetes of the Young) tipo 3 es una de las diabetes monogénicas y está causada por mutaciones en los genes del factor nuclear hepático 1 alfa (HNF1-α). Presentamos el caso de una niña de 6 años remitida para estudio de hiperglucemia, sin síntomas cardinales de diabetes tipo 1, y con antecedentes de diabetes en las dos generaciones anteriores. En el test de sobrecarga oral de glucosa (SOG) se objetivan cifras en rango diabético, hecho por frecuente una edad tan temprana. Se inicia tratamiento con insulina en un principio, y posteriormente con antidiabéticos orales, para disminuir el riesgo de afectación microvascular, que en la MODY tipo 3 es tan alto como en la diabetes tipo 1 (AU)


MODY diabetes (maturity onset diabetes of the yong), type 3, is one of the monogenic diabetes. It is caused by mutations in the hepatocyte nuclear factor (HNF)-q (alpha) gene mutations. We present the case of a 6 year old girl referred for a hyperglycemia study, with no core symptoms of type 1 diabetes, and with a background of diabetes in the two previous generations. In the glucose overload test (GOT), values were observed within the diabetic range, a rare event at such a young age. Treatment was initiated with insulin in the beginning and them with oral antidiabetics, to decrease the risk of microvascular involvement, which is as high as in type 1 diabetes in type 3 MODY (AU)


Assuntos
Humanos , Feminino , Criança , Diabetes Mellitus/genética , Hiperglicemia/diagnóstico , Fator 1-alfa Nuclear de Hepatócito/genética , Teste de Tolerância a Glucose
16.
Rev. esp. pediatr. (Ed. impr.) ; 66(3): 193-196, mayo-jun. 2010.
Artigo em Espanhol | IBECS | ID: ibc-91718

RESUMO

La enfermedad de Hirschsprung es un trastorno congénito en el que las células ganglionares de un segmento colónico están ausentes, provocando estreñimiento crónico. El enema de bario es la base del diagnóstico definitivo se realiza a través de la biopsia rectal que muestra la ausencia de células ganglionares. El tratamiento habitual es la cirugía, extirpando el segmento agangliónico. Presentamos un caso de enfermedad de Hirschprung con un debut tardío en forma de obstrucción intestinal (AU)


Hirschsprung´s disease is a congenital disorder of the colon in which certain nerve cells, known as ganglion cells, are absent, causing chronic constipation. A barium enema is the mainstay of diagnosis of Hirschsprung´s, though a rectal biopsy showing the lack of ganglion cells is the only certain method of diagnosis. The usual treatment is excision of the aganglionic colon and “pull-through” surgery of ganglionic colon with a coloanal anastomosis. We report a case of Hirschsprung´s disease with bowel obstruction in the infant period (AU)


Assuntos
Humanos , Obstrução Intestinal/etiologia , Doença de Hirschsprung/complicações , Constipação Intestinal/etiologia , Bário
17.
Rev. esp. pediatr. (Ed. impr.) ; 66(3): 197-199, mayo-jun. 2010.
Artigo em Espanhol | IBECS | ID: ibc-91719

RESUMO

En el síndrome del niño zarandeado se describe la coincidencia de hematoma subdural, hemorragias retinianas y daño cerebral difuso con pronóstico desfavorable , debido a las sacudidas del bebé. Los síntomas clínicos incluyen irritabilidad, somnolencia, apatía, calambres, ataques cerebrales, apnea, trastornos de la regulación de temperatura y vómitos debido a la presión intercraneal. Los síntomas más leves del síndrome del niño zarandeado a menudo no son diagnosticados y el número de casos no registrados es, probablemente mucho mayor. El diagnóstico del síndrome del niño zarandeado se hace a través de la coincidencia de síntomas típicos, pero la falta de hemorragia retiniana no excluye el diagnóstico. El mecanismo que se considera perjudicial son las fuerzas de rotación que comprimen las capas de tejido cerebral, unas contra otras, y rompen las venas que comunican cráneo y cerebro . Presentamos el caso de un lactante con desnutrición y hallazgos posteriores compatibles con síndrome de niño zarandeado (AU)


Shaken baby syndrome describes the coincidence of subdural hematoma, retinal bleeding and, disadvantageous for the prognosis, diffuse brain damage caused by powerful shaking of the infant. The clinical sympotoms include irritability , somnolence, apathy , cerebral attacks, apnoea, temperature regulation disorders and vomiting due to cranial pressure. Milder symptoms of shaken baby syndrome are often not diagnosed and the number of unregistered cases is probably much grater. The diagnosis of shaken baby syndrome is made through the typical symptom constellation, but the lack of retinal bleeding does not exclude the diagnosis. The injurious mechanism is considered to be caused by rotational forces which force tissue layers in the brain against each other and also lead to rupture of bridging veins between the skull and the brain. We report a case of an infant with malnutrition and shaken baby syndrome (AU)


Assuntos
Humanos , Masculino , Lactente , Transtornos da Nutrição Infantil/complicações , Síndrome da Criança Espancada/complicações , Síndrome do Bebê Sacudido/diagnóstico
18.
Rev. esp. pediatr. (Ed. impr.) ; 65(6): 560-562, nov.-dic. 2009. ilus
Artigo em Espanhol | IBECS | ID: ibc-92228

RESUMO

El síndrome de tapón meconial es una obstrucción intestinal distal por acumulación de meconio espeso. Se considera, de forma habitual, la forma más frecuente y leve de cuadro de obstrucción intestinal neonatal y pude dar lugar a un cuadro oclusivo con distensión abdominal progresiva, rechazo de la alimentación y vómitos biliosos (AU)


Meconium plug syndrome is a distal intestinal obstruction due to accumulation of thick meconium. It is the most mild and common neonatal distal intestinal obstruction and may lead to an occlusive table with progressive abdominal distension, refusal of food and bilious vomiting (AU)


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Mecônio , Obstrução Intestinal/etiologia , Impacção Fecal/complicações , Vômito/etiologia
19.
Rev. neurol. (Ed. impr.) ; 49(4): 176-180, 16 ago., 2009. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-94809

RESUMO

Objetivo. Determinar los factores de riesgo para recurrencia de convulsiones y la clasificación posquirúrgica a corto plazo en pacientes operados por esclerosis mesial temporal (EMT). Sujetos y métodos. Estudio de casos y controles anidado en la cohorte de pacientes con EMT diagnosticados por resonancia magnética con dos años de seguimiento posquirúrgico; se excluyeron pacientes con EMT bilateral. Se evaluaron características clínicas prequirúrgicas, foco epileptogénico en videoelectroencefalograma (video-EEG) y variables quirúrgicas con respecto a recurrencia de convulsiones en los primeros dos años tras la intervención y clasificación de Engel en el primer y segundo aniversario de la cirugía. Resultados. Entre octubre de 2001 y junio de 2008 se evaluó a 144 pacientes con EMT candidatos a cirugía de epilepsia; hasta junio de 2007, se había operado a 89 pacientes, un 51,7% con EMT izquierda. El 35,8% de los pacientes presentó recurrencia de convulsiones antes del segundo año tras la intervención; el factor de riesgo prequirúrgico asociado a recurrencia fue foco bitemporal o temporal único con diseminación contralateral por video-EEG (odds ratio = 6,32; intervalo de confianza al 95% = 1,64- 26,41); y el posquirúrgico, la presencia de convulsiones durante el primer mes tras la operación (p = 0,0004); no se encontró asociación con recurrencia para género, convulsiones tonicoclónicas generalizadas prequirúrgicas, lado de la EMT ni tiempo de evolución prequirúrgica de la epilepsia. El 66,3 y el 75,8% de los pacientes estaban en Engel I al primer y segundo año de la cirugía, respectivamente. El 91% de los pacientes intervenidos estaba en buen pronóstico posquirúrgico a los dos años. onclusión. La localización del foco epileptogénico por electrofisiología es un factor determinante en el pronóstico posquirúrgico a corto plazo en la EMT (AU)


Aim. To establish risk factors for seizure recurrence and short term Engel classification after surgery for mesial temporal sclerosis (MTS). Patients and methods. Nested case-control study in a cohort of patients diagnosed with MTS by magnetic resonance imaging and who had at least two years of postsurgical follow-up; patients with bilateral MTS were excluded. Clinical characteristics, epileptogenic focus in video-electroencefalography (video-EEG) and surgical issues were evaluated regarding to seizure recurrence during the first two postsurgical years and Engel classification in the first and second anniversary after surgery. Results. From October 2001 to June 2008, 144 patients with MTS were evaluated as candidates for epilepsy surgery; until June 2007, 89 patients underwent epilepsy surgery, 51.7% with left MTS. 35.8% of patients experienced seizure recurrence before two post-surgical years; presurgical risk factor associated to this recurrence was bitemporal focus or single temporal focus with contralateral dissemination by video-EEG (odds ratio = 6.32; 95% confidence interval = 1.64-26.41); and post-surgical, seizures that occurred in the first month of surgery (p = 0004). No association with seizure recurrence was found with gender, presurgical tonic-clonic seizures, MTS side and epilepsy duration. 66.3% and 75.8% of patients were Engel I classified in the first and second anniversary after surgery, respectively. 91% of operated patients showed a good outcome after two years of epilepsy surgery. Conclusion. Epileptogenic focus location by electrophysiology is a fundamental factor in short term outcome after surgery for MTS (AU)


Assuntos
Humanos , Convulsões/epidemiologia , Doenças Autoimunes Desmielinizantes do Sistema Nervoso Central/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Fatores de Risco , Recidiva , Estudos Retrospectivos
20.
Rev Neurol ; 49(4): 175-80, 2009.
Artigo em Espanhol | MEDLINE | ID: mdl-19621318

RESUMO

AIM: To establish risk factors for seizure recurrence and short term Engel classification after surgery for mesial temporal sclerosis (MTS). PATIENTS AND METHODS: Nested case-control study in a cohort of patients diagnosed with MTS by magnetic resonance imaging and who had at least two years of postsurgical follow-up; patients with bilateral MTS were excluded. Clinical characteristics, epileptogenic focus in video-electroencefalography (video-EEG) and surgical issues were evaluated regarding to seizure recurrence during the first two postsurgical years and Engel classification in the first and second anniversary after surgery. RESULTS: From October 2001 to June 2008, 144 patients with MTS were evaluated as candidates for epilepsy surgery; until June 2007, 89 patients underwent epilepsy surgery, 51.7% with left MTS. 35.8% of patients experienced seizure recurrence before two post-surgical years; presurgical risk factor associated to this recurrence was bitemporal focus or single temporal focus with contralateral dissemination by video-EEG (odds ratio = 6.32; 95% confidence interval = 1.64-26.41); and post-surgical, seizures that occurred in the first month of surgery (p = 0004). No association with seizure recurrence was found with gender, presurgical tonic-clonic seizures, MTS side and epilepsy duration. 66.3% and 75.8% of patients were Engel I classified in the first and second anniversary after surgery, respectively. 91% of operated patients showed a good outcome after two years of epilepsy surgery. CONCLUSION: Epileptogenic focus location by electrophysiology is a fundamental factor in short term outcome after surgery for MTS.


Assuntos
Epilepsia do Lobo Temporal , Epilepsia , Esclerose , Convulsões , Adolescente , Adulto , Epilepsia/fisiopatologia , Epilepsia/cirurgia , Epilepsia do Lobo Temporal/patologia , Epilepsia do Lobo Temporal/cirurgia , Humanos , Masculino , Estudos Retrospectivos , Fatores de Risco , Esclerose/patologia , Esclerose/fisiopatologia , Esclerose/cirurgia , Convulsões/fisiopatologia , Convulsões/cirurgia , Resultado do Tratamento , Adulto Jovem
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