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1.
Arch. bronconeumol. (Ed. impr.) ; 51(1): 5-9, ene. 2015. graf, tab
Article in Spanish | IBECS | ID: ibc-131464

ABSTRACT

Introducción: Las técnicas moleculares han permitido un mejor conocimiento de la etiología de las infecciones respiratorias infantiles. El objetivo del estudio fue analizar la coinfección viral y su relación con la gravedad clínica. Métodos: Se estudió a pacientes pediátricos hospitalizados con diagnóstico clínico de infección respiratoria durante el periodo comprendido entre 2009 y 2010. Se recogieron datos clínicos, epidemiológicos, duración de la hospitalización, necesidad de oxigenoterapia, coinfección bacteriana y necesidad de ventilación mecánica. Etiología estudiada con técnica PCR múltiple y microarrays de baja densidad para 19 virus. Resultados: Un total de 385 pacientes presentaron resultados positivos, 44,94% menores de 12 meses. Los virus más detectados fueron: VRS-B: 139, rhinovirus: 114, VRS-A: 111, influenza A H1N1-2009: 93 y bocavirus: 77. Se detectó coinfección en el 61,81%, un 36,36% con 2 virus, 16,10% con 3 y 9,35% con 4 o más. La coinfección fue superior en 2009 con 69,79 frente 53,88% en 2010. Rhinovirus/VRS-B en 10 ocasiones y VRS-A/VRS-B en 5 fueron las coinfecciones más detectadas. Menor hospitalización a mayor número de virus detectados (p < 0,001). Necesitaron oxigenoterapia el 26,75% (en 55,34% se aisló un virus), objetivando a mayor número de virus menor necesidad de oxígeno (p < 0,001). Precisaron ventilación mecánica 9 casos, 4 de ellos con coinfección bacteriana y 5 con coinfección vírica (p = 0,69). Conclusiones: Objetivamos una relación inversamente proporcional entre número de virus detectados en aspirado nasofaríngeo, necesidad de oxigenoterapia y días de hospitalización. Se necesitan más estudios epidemiológicos y mejoría en las técnicas de detección cuantitativa para definir el papel de las coinfecciones víricas en la enfermedad respiratoria y su correlación con la gravedad clínica


Introduction: The introduction of molecular techniques has enabled better understanding of the etiology of respiratory tract infections in children. The objective of the study was to analyze viral coinfection and its relationship to clinical severity. Methods: Hospitalized pediatric patients with a clinical diagnosis of respiratory infection were studied during the period between 2009-2010. Clinical and epidemiological data, duration of hospitalization, need for oxygen therapy, bacterial coinfection and need for mechanical ventilation were collected. Etiology was studied by multiplex PCR and low-density microarrays for 19 viruses. Results: A total of 385 patients were positive, 44.94% under 12 months. The most frequently detected viruses were RSV-B: 139, rhinovirus: 114, RSV-A: 111, influenza A H1N1-2009: 93 and bocavirus: 77. Coinfection was detected in 61.81%, 36.36% with 2 viruses, 16.10% and 9.35% with 3 to 4 or more. Coinfection was higher in 2009 with 69.79 vs. 53.88% in 2010. Rhinovirus/RSV-B on 10 times and RSV-A/RSV-B on 5 times were the most detected coinfections. Hospitalization decreased with greater number of viruses (P < 0,001). Oxygen therapy was required by 26.75% (one virus was detected in 55.34% of cases). A larger number of viruses resulted in less need for oxygen (P < 0,001). Ten cases required mechanical ventilation, 4 patients with bacterial coinfection and 5 with viral coinfection (P = 0,69). Conclusions: An inverse relationship was found between the number of viruses detected in nasopharyngeal aspirate, the need for oxygen therapy and hospitalization days. More epidemiological studies and improved quantitative detection techniques are needed to define the role of viral coinfections in respiratory disease and its correlation with the clinical severity


Subject(s)
Humans , Male , Female , Child , Coinfection/diagnosis , Coinfection/genetics , Coinfection/metabolism , Virus Diseases/diagnosis , Virus Diseases/metabolism , Nasopharyngeal Neoplasms , Coinfection/complications , Coinfection/pathology , Virus Diseases/classification , Virus Diseases/complications
2.
Arch Bronconeumol ; 51(1): 5-9, 2015 Jan.
Article in English, Spanish | MEDLINE | ID: mdl-24666712

ABSTRACT

INTRODUCTION: The introduction of molecular techniques has enabled better understanding of the etiology of respiratory tract infections in children. The objective of the study was to analyze viral coinfection and its relationship to clinical severity. METHODS: Hospitalized pediatric patients with a clinical diagnosis of respiratory infection were studied during the period between 2009-2010. Clinical and epidemiological data, duration of hospitalization, need for oxygen therapy, bacterial coinfection and need for mechanical ventilation were collected. Etiology was studied by multiplex PCR and low-density microarrays for 19 viruses. RESULTS: A total of 385 patients were positive, 44.94% under 12 months. The most frequently detected viruses were RSV-B: 139, rhinovirus: 114, RSV-A: 111, influenza A H1N1-2009: 93 and bocavirus: 77. Coinfection was detected in 61.81%, 36.36% with 2 viruses, 16.10% and 9.35% with 3 to 4 or more. Coinfection was higher in 2009 with 69.79 vs. 53.88% in 2010. Rhinovirus/RSV-B on 10 times and RSV-A/RSV-B on 5 times were the most detected coinfections. Hospitalization decreased with greater number of viruses (P<0,001). Oxygen therapy was required by 26.75% (one virus was detected in 55.34% of cases). A larger number of viruses resulted in less need for oxygen (P<0,001). Ten cases required mechanical ventilation, 4 patients with bacterial coinfection and 5 with viral coinfection (P=0,69). CONCLUSIONS: An inverse relationship was found between the number of viruses detected in nasopharyngeal aspirate, the need for oxygen therapy and hospitalization days. More epidemiological studies and improved quantitative detection techniques are needed to define the role of viral coinfections in respiratory disease and its correlation with the clinical severity.


Subject(s)
Coinfection/epidemiology , Cross Infection/epidemiology , Respiratory Tract Infections/epidemiology , Virus Diseases/epidemiology , Adolescent , Anti-Infective Agents/therapeutic use , Bacterial Infections/epidemiology , Child , Child, Preschool , Combined Modality Therapy , Cross Infection/microbiology , Cross Infection/virology , Female , Humans , Infant , Infant, Newborn , Inpatients , Intensive Care Units, Pediatric/statistics & numerical data , Length of Stay/statistics & numerical data , Male , Nasopharynx/virology , Oxygen Inhalation Therapy , Polymerase Chain Reaction/methods , Respiration, Artificial , Respiratory Tract Infections/microbiology , Respiratory Tract Infections/virology , Spain/epidemiology , Viruses/isolation & purification
7.
Acta pediatr. esp ; 66(1): 35-37, ene. 2008. ilus, tab
Article in Es | IBECS | ID: ibc-64837

ABSTRACT

La piomiositis es la infección bacteriana del músculo estriado, cuyo agente etiológico más frecuente es Staphylococcus aureus. Su baja frecuencia y la clínica inespecífica del proceso hace que se deba tener un alto índice de sospecha para realizarlas exploraciones complementarias más adecuadas (ecografía, resonancia magnética...). El tratamiento es médico y quirúrgico, y precisa generalmente una antibioterapia prolongada. Se presentan tres casos diagnosticados en nuestra unidad, en niños de diferentes edades, entre octubre de 2001 y junio de 2004 (AU)


Pyomyositis is an infectious disease of the skeletal muscles in which the most common etiologic agent is Staphylococcus aureus. Given the low incidence and the nonspecific clinical symptoms of this disease, a high index of suspicion is necessary in order for the proper studies to be carried out (ultrasound, magnetic resonance imaging, etc.). The treatment is medical and surgical, and long-term antibiotic therapy is generally required. We present three cases diagnosed in our hospital between October 2001 and June 2004 in children of different ages (AU)


Subject(s)
Humans , Male , Female , Child , Infant , Myositis/complications , Myositis/diagnosis , Staphylococcus aureus/isolation & purification , Staphylococcus aureus/pathogenicity , Amoxicillin-Potassium Clavulanate Combination/therapeutic use , Diagnosis, Differential , Muscle, Skeletal/microbiology , Muscle, Skeletal/pathology , Myositis/pathology , Magnetic Resonance Imaging , Fever/diagnosis , Fever/etiology , Pain/diagnosis , Myositis
8.
Acta pediatr. esp ; 64(11): 545-550, dic. 2006. tab
Article in Es | IBECS | ID: ibc-050019

ABSTRACT

Introducción: Este estudio se realizó con el objetivo de conocer la situación de los hijos de inmigrantes llegados en los últimos 5 años en relación con la tuberculosis. Métodos: Se practicó una prueba de la tuberculina (PT) a los ingresados en una unidad de pediatría por sospecha de tuberculosis, a los contactos y a los pacientes con una estancia menor de 5 años que, aunque nacidos aquí, viajaran a su país o recibieran a familiares adultos procedentes de él durante los últimos 5 años. Con una PT positiva, se practicaba un estudio de imagen y un aspirado del jugo gástrico o esputo. En los vacunados con BCG y con resultado negativo de la PT, se buscaba el efecto recuerdo a los 10-15 días. Resultados: Se estudiaron 389 niños( entre 1 mes y 18 años de edad), 286 de ellos menores de 10 años. Latinoamérica (42,93%)y el sudestea siático (28,8%) eran las zonas geográficas dominantes. Se constataron 13 casos de enfermedad y 22 de infección latente, y la PT fue negativa en el 83,8% de los casos. Hubo diferencias significativas entre los no vacunados con BCG (13,5%) y los vacunados (5,1%; p=0,004). No hubo diferencias en cuanto al lugar de procedencia y el tiempo de llegada. Se halló un mayor número de PT positivas en el grupo de mayor edad, con diferencias significativas (p <0,001). También hubo diferencias estadísticamente significativas en los pacientes que tuvieron contacto con casos activos (66,7%;p <0,001). El estudio de regresión logística para la relación de factores sólo de muestra que la edad mantiene la significación estadística en el estudio multivariado (p= 0,011). En 192 vacunados con BCG se constató la presencia de enfermedad en 7 casos e infección latente en 18, y el efecto de recuerdo fue válido sólo en el 26,22% de los casos. Conclusiones: Hay más posibilidades de positividada la PT cuanto mayor es la edad de los pacientes, así como en los vacunados con BCG


Introduction: The purpose of the present study was to assess the incidence of tuberculosis (TB) infections in children of immigrants who had arrived in Spain within the last five years. Methods: The tuberculin skin test (TST) was performed in: a) all the immigrant children admitted to the Pediatric Unit for suspected TB; b) all those who had been in contact with an adultwith TB; and c) all those who, having been in Spain for less than five years, including those born here, had traveled to their country of origin or had receivedt he visit of adults from said country within the last five years. When the TST was positive, imaging studies were performed and specimens (gastrica spirate or sputum) were collected for smear or culture. In children with negative TST who had been vaccinated with bacillus Calmette-Guerin (BCG), the booster effect was assessed 10 to 15 days later. Results: The authors studied 389 children aged between 1 month and 18 years. 286 of whom were under the age of 10 years. The predominant countries were located in latin America (42.93%) or in Southeast Asia (28.8%). TB was diagnosed in 13 cases and latent TB infection in 22, while the TST was negativein 83.8%. There were statistically significant differences between children who had been vaccinated with BCG (5.1% ) and those who had not (13.5%;p = 0.004). No differences were observed in terms of the country of origin or time elapsed since their arrival in Spain. The number of positive TST was significantly higher among older children (p< 0.001). There was also a statistically significant predominance of children who had been in contact with active TB (66.7%; p <0.001). The multivariate analysis using logistic regression to determine the relationship between factors revealed statistical significance only for age (p=0.001). Of the 192 children who had been vaccinated with BCG, TB was detected in 7 and latent TB infection in 18. while the booster effect was present only in 26.22% cases. Conclusions: The probability of a positive TST is higher in older children and those who have been vaccinated with BCG


Subject(s)
Male , Female , Infant , Child, Preschool , Child , Adolescent , Humans , Tuberculosis/epidemiology , Transients and Migrants/statistics & numerical data , Tuberculin/analysis , Age Factors , Hospital Statistics
9.
Acta pediatr. esp ; 64(1): 7-10, ene. 2006. ilus, tab
Article in Es | IBECS | ID: ibc-043524

ABSTRACT

La tiña de los pies es menos frecuente en el niño que en el adulto y raramente aparece antes de los 4 años. Para identificar la prevalencia de este tipo de tiñas entre escolares se planificó un estudio en 39 escuelas del distrito que es área de referencia del Hospital del Mar de Barcelona. Se examinaron 2.613 escolares de edades comprendidas entre los 3 y 15 años. Se detectaron 72 casos con cultivo positivo a dermatófitos, 3 padecían conjuntamente afectación ungueal. La prevalencia era del 2,75% y aumentaba con la edad: un 0,86% entre los 3 y 5 años, un 2,08% entre los 10 y 12 años, y un 7,04% entre los 13 y 15 años. Los agentes fueron Trichophyton mentagrophytes (48,6%), J: rubrum (40,27%), Epidermophyton mophyton floccosum(6,94%y) J:t onsurans( 4,16%). De los 72 casos de dermatofitosis, sólo 49 tenían lesiones clínicas evidentes. Sólo 19 de los 49 con manifestacionesc línicas tenían conocimiento de sus lesiones, y 8 habían realizado tratamiento antifúngico de forma irregular unos meses antes. Posibles razones del bajo nivel diagnóstico podrían estar en: a) el bajo interés familiar por las lesiones, al no haber sido verbalizadas, y ser valoradas como triviales; b) la consideración de situación propia de la edad y asociada a la actividad deportiva; c) reducida sintomatología subjetiva; d) falta de práctica exploratoria sistemática de zonas interdigitales de los pies; e) la falta de un correcto diagnóstico diferencial; f) bajo interés de los adolescentes en acudir a visitas pediátricas; y g) autodiagnóstico y automedicación


Tinea pedís is less common in children than in adults and rarely appears before the age of tour years. A cross-sectional study was performed to determine the prevalence of this type of tinea in schoolc hildren in BarcelonaS, pain. A total of 2,613s choocl hildrenw ith the agesf rom 3 to 15, from 39 schools located in the municipal district in the vicinity of the hospital, were examinedto identity the presence of dermatophytogis of the feet. Seventy-two had positive cultures for tínea pedis and dermatophytes, while in three, the nail was involved as well. The overall prevalence was 2.75%, and increased with age, being 0.86% in 3 to 5-year-olds, 2.08% in 10 to 12-year-old and 7.04% in 13 to 15-year-old. The fungi found were Tríchophyton mentagrophytes (48.6%),T rubrum( 40.27%)Epidermophyton floccosum (6.94%) and T. tonsurans(4.16%).Of these 72 children, 49 had interdigital lesions, only 19 of them were aware of their presence and 8 had received antifungal therapy previously, although not consistently. Although the incidence of tinea pedís is low in children, we think that it is underdiagnose. Possible reasons for this could be the limited interest in the lesions on the part of parents, who consider them trivial and do not mention them during physical examinations; the consideration that the condition is characteristic of the age group and is associated with sports and the generalized use of athletic foot wear, the lack of proper foot hygiene after doing sports; the fact that there are few subjective symptoms; the failure on the part of the pediatrician to systematically and carefully examine the interdigital skin of the feet of healthy children; the lack of an accurate differential diagnosis; the reluctance of adolescents to visit the pediatrician; self-diagnosis and self-medication


Subject(s)
Male , Female , Child , Child, Preschool , Humans , Tinea/diagnosis , Tinea/epidemiology , Tinea/therapy , Arthrodermataceae/isolation & purification , Dermatomycoses/diagnosis , Dermatomycoses/epidemiology , Dermatomycoses/therapy , Foot Dermatoses/diagnosis , Foot Dermatoses/epidemiology , Trichophyton/isolation & purification , Arthrodermataceae/immunology , Arthrodermataceae/pathogenicity , Keratoderma, Palmoplantar, Diffuse/epidemiology , Keratoderma, Palmoplantar/epidemiology , Hygiene/education , Hygiene/standards , School Health Services , Foot Dermatoses/physiopathology
10.
Acta pediatr. esp ; 63(9): 384-388, oct. 2005. ilus, tab
Article in Es | IBECS | ID: ibc-040571

ABSTRACT

El exantema fijo medicamentoso es una de las posibles manifestaciones de las toxicodermias; sin embargo, la presentación pediátrica no es de las más frecuentes. Su característica de localizarse siempre en los mismos sitios puede ayudar a establecer el diagnóstico, pero este dato no favorece el que se establezca de forma precoz. Son múltiples los medicamentos que pueden ocasionarlo. Se presentan 4 casos con sus características clínicas, producidos por 3 fármacos distintos (cotrimoxazol, fenobarbital y paracetamol), así como el diagnóstico diferencial que debe realizarse


Fixed drug eruption is one of the possible clinical presentations of cutaneous reactions to drugs; however, it is not very common in children. Characteristically, it is always localized at the same sites, a fact that can help to establish the diagnosis. but this circumstance is of no help for the early diagnosis. It can be caused by a number of drugs. We describe the clinical features of four cases produced by three different drugs (co-trimoxazole. phenobarbital, paracetamol) and the actions involved in the differential diagnosis


Subject(s)
Child , Humans , Erythema/etiology , /diagnosis , /pathology , Exanthema/etiology , Drug Eruptions/etiology , Drug Eruptions/pathology , Skin Diseases/pathology , Skin Diseases/diagnosis , Skin Diseases/etiology , /epidemiology , Drug Eruptions/diagnosis
13.
An Pediatr (Barc) ; 59(4): 393-5, 2003 Oct.
Article in Spanish | MEDLINE | ID: mdl-14519307

ABSTRACT

Sialolithiasis rarely occurs in children and usually affects the submandibular salivary gland. Because of its rarity, its clinical expression is frequently missed and diagnosis is delayed. We describe the case of a 9-year-old boy with submandibular sialolithiasis who presented spontaneous passage of a large salivary stone. We review the clinical findings and etiopathogenesis of sialolithiasis in children, as well as diagnostic imaging techniques and several therapeutic approaches to stone extraction.


Subject(s)
Salivary Gland Calculi , Submandibular Gland Diseases , Child , Humans , Male , Remission, Spontaneous , Salivary Gland Calculi/diagnosis , Submandibular Gland Diseases/diagnosis
14.
An. pediatr. (2003, Ed. impr.) ; 59(4): 393-395, oct. 2003.
Article in Es | IBECS | ID: ibc-24871

ABSTRACT

La sialolitiasis es un trastorno poco frecuente en pacientes pediátricos que suele afectar a las glándulas salivales submandibulares. Su rareza hace que a menudo su expresión clínica pase desapercibida y se retrase el diagnóstico. Se presenta el caso de un niño de 9 años con una sialolitiasis submandibular que consigue la salida espontánea de un cálculo de grandes dimensiones mediante manipulación externa. Se revisan los hallazgos clínicos, la etiopatogenia, las técnicas de diagnóstico por la imagen y las diversas técnicas terapéuticas de extracción de cálculos en la sialolitiasis (AU)


Subject(s)
Child , Male , Humans , Submandibular Gland Diseases , Salivary Gland Calculi , Remission, Spontaneous , Hepatitis , Anemia, Aplastic
15.
An. esp. pediatr. (Ed. impr) ; 57(3): 227-230, sept. 2002.
Article in Es | IBECS | ID: ibc-13069

ABSTRACT

En la actualidad, en los países desarrollados el raquitismo es una enfermedad prácticamente olvidada entre sus habitantes autóctonos y su incidencia se relaciona con el fenómeno de la inmigración. De hecho, existen numerosas publicaciones sobre raquitismo y osteomalacia nutricional descritos en lactantes, adolescentes y mujeres gestantes de países asiáticos que han inmigrado a países desarrollados de clima frío. La etiopatogenia de este trastorno del metabolismo del calcio y la vitamina D obedece a diversos factores y los principales son ambientales y socioculturales, que están ligados a una menor exposición solar y a una deficiente ingesta de productos ricos en calcio y a otros factores alimentarios. Debido al incremento de la migración que se está produciendo en España en los últimos años, es importante revisar el tratamiento y la prevención del raquitismo en los niños y adolescentes inmigrantes asiáticos (AU)


Subject(s)
Humans , Rickets , Vitamin D Deficiency , Vitamin D , Prevalence , Emigration and Immigration , Ethnicity
16.
An. esp. pediatr. (Ed. impr) ; 57(3): 264-267, sept. 2002.
Article in Es | IBECS | ID: ibc-13075

ABSTRACT

La primera infancia y la pubertad son períodos críticos para la aparición de manifestaciones clínicas de hipovitaminosis D, ya que existen unas demandas de calcio aumentadas, secundarias a una mayor aposición ósea. En los países subdesarrollados el raquitismo continúa siendo una de las enfermedades más prevalentes en la infancia. Por el contrario, en la actualidad, en los países occidentales se trata de una enfermedad prácticamente erradicada y su incidencia depende del fenómeno migratorio. De hecho, existen numerosas publicaciones sobre raquitismo y osteomalacia nutricional descritos en lactantes, adolescentes y mujeres gestantes de India, Paquistán, Bangladesh que han inmigrado a países desarrollados de clima frío. Se presentan los casos de 3 adolescentes de origen paquistaní, que consultaron por dolor de extremidades, dificultad en la deambulación, genu valgo o crisis convulsiva. Todos ellos presentaban hipocalcemia, niveles de parathormona y fosfatasa alcalina elevado, con valores disminuidos de 25(OH)D. La administración de vitamina D y modificaciones en su dieta normalizaron los parámetros analíticos y produjeron mejoría de su sintomatología. Dado el incremento de la migración que se está produciendo en España en los últimos años, probablemente volverá a verse una enfermedad ya olvidada (AU)


Subject(s)
Child , Adolescent , Male , Female , Humans , Puberty , Rickets , Pneumonia, Mycoplasma , Emigration and Immigration , Ethnicity
17.
An Esp Pediatr ; 57(3): 227-30, 2002 Sep.
Article in Spanish | MEDLINE | ID: mdl-12199945

ABSTRACT

Although rickets is considered to have practically disappeared in developed countries, there is increasing evidence of widespread vitamin D deficiency among immigrants. Many studies report rickets and osteomalacia in Asian infants, adolescents and pregnant women moving to developed countries with a cooler climate. The etiopathogenesis of this disorder of calcium and D vitamin metabolism depend mainly on environmental and sociocultural factors, associated with low exposure to sunlight and low calcium intake, among other dietary factors. Given the recent increase in the number of immigrants to Spain, the prevention and treatment of this disease in Asian children and adolescents should be reviewed.


Subject(s)
Emigration and Immigration/statistics & numerical data , Ethnicity/statistics & numerical data , Rickets/ethnology , Vitamin D Deficiency/ethnology , Humans , Prevalence , Rickets/drug therapy , Rickets/prevention & control , Vitamin D/therapeutic use , Vitamin D Deficiency/drug therapy
18.
An Esp Pediatr ; 57(3): 264-7, 2002 Sep.
Article in Spanish | MEDLINE | ID: mdl-12199951

ABSTRACT

Rickets usually occurs in the first two years of life and in puberty since metabolic demand is increased due to rapid growth in these two critical periods of life, when peak bone mass is achieved. Rickets remains one of the most prevalent pediatric diseases in developing countries. Although it is considered to have disappeared in developed countries, there is increasing evidence of widespread vitamin D deficiency among immigrants. There are many reports on rickets and osteomalacia in Asian infants, adolescents and pregnant women moving from India, Pakistan and Bangladesh to developed countries with a cooler climate. We describe three teenagers of Pakistani origin. Clinical presentation included limb pains, muscular weakness, knock-knees and seizures. In all three patients, biochemical findings included hypocalcemia, raised serum parathormone and alkaline phosphatase, and reduced 25-hydroxy vitamin D concentrations. After vitamin D treatment and dietary counseling, biochemical findings returned to normal and their symptoms improved. Given the recent increase in the number of immigrants to Spain, this forgotten disease will probably reappear.


Subject(s)
Emigration and Immigration/statistics & numerical data , Ethnicity/statistics & numerical data , Puberty , Rickets/ethnology , Adolescent , Child , Female , Humans , Male
19.
An Esp Pediatr ; 56(6): 567-70, 2002 Jun.
Article in Spanish | MEDLINE | ID: mdl-12042155

ABSTRACT

A female neonate was born after a 37.4-week pregnancy to a healthy primipara. There was a family history of diabetes on the father's side. The neonate's birth weight was 1,955 g and she was 43 cm long. Physical examination showed bilateral palpebral edema, macroglossia, umbilical hernia and abdominal distension. At 29 hours of life she presented hyperglycemia without acidosis or ketosis. Insulin treatment was started and maintained intermittently until 38 days of life. The patient presented anemia from the second day of life, which required iron therapy and blood transfusion one month after birth. The karyotype was 46, XX with paternal uniparental isodisomy of chromosome 6. Paternal uniparental isodisomy of chromosome 6 has been described as the pathogenic mechanism of transient neonatal diabetes, which provides evidence for an imprinted gene exclusively of paternal expression. In paternal isodisomy (as in regional duplications) there is overexpression due to the existence of two functional copies of the gene, which is responsible for transient neonatal diabetes mellitus. Transient neonatal diabetes associated with macroglossia, umbilical hernia and anemia has been described in only a few cases.


Subject(s)
Chromosomes, Human, Pair 6/genetics , Diabetes Mellitus/genetics , Uniparental Disomy/genetics , Diabetes, Gestational , Female , Humans , Pregnancy
20.
An. esp. pediatr. (Ed. impr) ; 56(6): 567-570, jun. 2002.
Article in Es | IBECS | ID: ibc-12976

ABSTRACT

Recién nacida de 37,4 semanas de gestación, fruto de una primera gestación de madre sana. Antecedentes familiares de diabetes en la familia paterna. Peso al nacimiento de 1.955 g y talla de 43 cm. En la exploración física destacaba edema palpebral bilateral, macroglosia, hernia umbilical y distensión abdominal. A las 29 h de vida presentó hiperglucemia sin acidosis ni cetosis, por lo que se inició tratamiento con insulina que se mantuvo de forma discontinua hasta los 38 días de vida. El segundo día de vida se detectó anemia que requirió ferroterapia y transfusión sanguínea al mes de vida. Cariotipo 46, XX. El estudio de genética molecular reveló isodisomía uniparental paterna del cromosoma 6. La isodisomía uniparental del cromosoma 6 se ha descrito como mecanismo patogénico de la diabetes mellitus neonatal transitoria, lo que apoya la existencia en dicho cromosoma de un gen responsable sometido a impronta y de expresión exclusivamente paterna. En la isodisomía paterna (al igual que en las duplicaciones regionales) se produce una sobrexpresión por la existencia de dos copias funcionales de dicho gen, siendo ésta la responsable de la diabetes mellitus neonatal transitoria. Se ha descrito su asociación con macroglosia, hernia umbilical y anemia (AU)


Subject(s)
Pregnancy , Female , Humans , Diabetes, Gestational , Uniparental Disomy , Chromosomes, Human, Pair 6 , Diabetes Mellitus
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