RESUMEN
UNLABELLED: Our prospective study is among the first attempts to examine the health of prenatally buprenorphine-exposed children after neonatal age and to determine the types of child maltreatment in this patient group. The study population included 102 children (61/41 Caucasian males/females) who had a positive urine screen for buprenorphine as a newborn. In addition to buprenorphine, the children were also prenatally exposed to other substances. The data were collected by pediatricians in follow-up visits until 3 years of age and from medical records. Ten prenatally buprenorphine-exposed children (10 %) had some birth defect. The study children had slightly more major anomalies than newborns on average in Finland (3.4 %). Eye disorders (nystagmus, opticus atrophy, and strabismus) occurred in 11 % of children. One child was diagnosed with hepatitis C transmission. One female died of sudden infant death syndrome (SIDS), and one male died of congenital heart disease. Pediatricians submitted altogether 70 reports to child welfare services of suspected maltreatment. Of these reports, 45 (64 %) involved medical neglect. Physical abuse was suspected in four reports. CONCLUSION: We suggest that prenatally buprenorphine-exposed children have several types of problems with their health at toddler age and that they are susceptible to child maltreatment, especially to medical neglect.
Asunto(s)
Analgésicos Opioides/efectos adversos , Buprenorfina/efectos adversos , Maltrato a los Niños/diagnóstico , Efectos Tardíos de la Exposición Prenatal/inducido químicamente , Niño , Preescolar , Femenino , Finlandia/epidemiología , Estado de Salud , Humanos , Lactante , Recién Nacido , Masculino , Embarazo , Efectos Tardíos de la Exposición Prenatal/epidemiología , Estudios ProspectivosRESUMEN
Every physician meeting with children should be aware of the most common types of injury and situations causing concern associated with child abuse. When encountering a child who has been or suspected to have been abused, even the physician may get anxious and uncertain about what he/she should be able to do. It is worth remembering that at the beginning the best way a doctor can help the child is to take care of the basic aspects of her/his work: careful clinical examination, appropriate medical record entries and prompt reports to the authorities.
Asunto(s)
Maltrato a los Niños/diagnóstico , Rol del Médico , Niño , Humanos , Anamnesis , Examen FísicoRESUMEN
PURPOSE: To analyze the mechanisms of myopia in Cohen syndrome (Mendelian Inheritance in Man [MIM] no. 216550). METHODS: A cross-sectional study of 22 Finnish patients (age range, 2-57 years) with Cohen syndrome, which maps to chromosome 8q22, was undertaken to record cycloplegic refraction, keratometry (corneal power and radius of curvature), biometry (anterior chamber depth [ACD], lens thickness [LT], axial [AL] and vitreal length [VL]), and Hoffer Q-modeled lens power. These components of refraction were correlated to age and spherical equivalent (SE) at the corneal plane. Contribution to total myopia of refractive (corneal and lenticular) and axial components was modeled by multiple linear regression and by estimating the effect of deviation from population mean values. RESULTS: The mean SE in patients with Cohen syndrome older than 10 years was -9.35 D; the mean cylinder power, +1.70 D; and the mean anisometropia, 0.53 D. Relative to the emmetropic eye of a young adult, the AL and VL (mean, 23.9 and 16.6 mm, respectively) and lens power (mean, 30.30 D) were higher in 74% and 93% of patients, respectively, and the ACD (mean, 2.5 mm) was smaller and the LT (mean, 4.9 mm) and corneal power (mean, 45.63 D) higher than average in all patients. Corneal power (r = 0.513, P = 0.021) increased with age, but AL and VL (P = 0.46 and 0.54, respectively) and lens power (P = 0.89) did not correlate with age. The lens power decreased with AL (r = -0.564, P = 0.029) and tended to increase with corneal power (r = 0.475, P = 0.074). Multiple linear regression identified AL and corneal power as independent predictors of SE. Based on deviation from population means, the lens power explained 55%, corneal power 23%, and AL 22% of total myopia. ACD decreased and LT increased markedly with age, rendering angle-closure glaucoma a possibility. CONCLUSIONS: Myopia in Cohen syndrome is mainly refractive in type and is due to high corneal and lenticular power, which is otherwise rare in young patients. It may be superimposed on axial myopia, probably related to polygenic factors that determine myopia in the general population. The refractive myopia in Cohen syndrome may result from dysgenesis and atrophy of the cornea, ciliary body, and iris, which in turn cause iridial and zonular laxity and spherophakia.
Asunto(s)
Anomalías Múltiples/fisiopatología , Cromosomas Humanos Par 8 , Cara/anomalías , Discapacidad Intelectual/fisiopatología , Miopía/fisiopatología , Anomalías Múltiples/genética , Adolescente , Adulto , Niño , Preescolar , Mapeo Cromosómico , Córnea/fisiopatología , Estudios Transversales , Femenino , Ligamiento Genético , Humanos , Discapacidad Intelectual/genética , Cristalino/fisiopatología , Masculino , Microcefalia/genética , Microcefalia/fisiopatología , Persona de Mediana Edad , Hipotonía Muscular/genética , Hipotonía Muscular/fisiopatología , Refracción Ocular , SíndromeRESUMEN
OBJECTIVE: Our objective was to characterize the effects of sleep stages on tactile somatosensory evoked responses in full-term newborns. METHODS: Somatosensory evoked potentials (SEPs) and magnetic fields (SEFs) to tactile stimulation of the tip of the index finger and/or thenar eminence were measured from 14 healthy newborns. The stimulus was a gentle tap produced by a moving membrane driven by an air-pressure pulse. RESULTS: SEPs and SEFs to tactile stimulation of the skin were similar in waveform and latency to SEPs known to be produced by electrical stimulation of the fingertip of neonates. The two most distinguishable positive deflections of SEPs, P1 and P2, within 300 ms of the stimulation, and their magnetic counterparts were clearly smaller in active compared to quiet sleep. CONCLUSIONS: Our study demonstrates for the first time that it is possible to record SEFs in neonates, and that clear late cortical somatosensory responses are produced by tactile stimulation. In addition, the effect of sleep stage on these responses indicates differences in the processing of the incoming information, at least in the somatosensory modality, in active and quiet sleep. SIGNIFICANCE: Tactile stimulation may be useful as a completely non-invasive technique for studying the physiology of the somatosensory system in neonates. Methodologically, since the effect of sleep stage is profound, one must carefully monitor the sleep stages in studies of event-related responses in newborns, or else this effect may confound the phenomena being studied.
Asunto(s)
Campos Electromagnéticos , Potenciales Evocados Somatosensoriales/fisiología , Mano/fisiología , Fases del Sueño/fisiología , Corteza Somatosensorial/fisiología , Electroencefalografía , Electromiografía , Electrooculografía , Femenino , Dedos/inervación , Dedos/fisiología , Mano/inervación , Humanos , Recién Nacido , Magnetoencefalografía , Masculino , Estimulación Física/métodosAsunto(s)
Maltrato a los Niños/diagnóstico , Maltrato a los Niños/terapia , Notificación Obligatoria , Rol del Médico , Heridas y Lesiones/diagnóstico , Heridas y Lesiones/terapia , Niño , Preescolar , Femenino , Finlandia , Estudios de Seguimiento , Hospitales Pediátricos , Humanos , Puntaje de Gravedad del Traumatismo , Masculino , Recurrencia , Derivación y Consulta , Medición de RiesgoAsunto(s)
Notificación Obligatoria , Prevención Primaria/organización & administración , Síndrome del Bebé Sacudido/epidemiología , Femenino , Finlandia/epidemiología , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Medición de Riesgo , Índice de Severidad de la Enfermedad , Síndrome del Bebé Sacudido/prevención & control , Tasa de SupervivenciaRESUMEN
AIM: To study the neonatal outcome of infants exposed to buprenorphine in utero. METHODS: We prospectively followed 54 buprenorphine-using pregnant women and their 58 infants. Urinary buprenorphine and norbuprenorphine concentrations in the mothers were measured prior to delivery, and in the infants during the first 3 days of life. The Finnegan score was used to evaluate neonatal abstinence syndrome. Other medical problems as well as social outcomes were recorded. RESULTS: All infants had buprenorphine in their urine. A total of 38 infants required 20 +/- 10 days (range 7-48 days) of morphine treatment for neonatal abstinence syndrome. The length of hospital stay for all infants was 25 +/- 19 days (range 3-125 days). The infants' highest urinary norbuprenorphine concentrations across their first 3 days of life correlated with the length of hospital stay and duration of morphine treatment (both p < 0.05). The mean birth weight and mean head circumference (n = 58) were below average (mean -0.7 standard deviation [SD] and mean -0.5 SD, respectively). Eleven infants were discharged home, 19 infants were placed in foster care and 28 infants were discharged with their mothers to Mother and Child homes or to other institutions. CONCLUSION: Maternal buprenorphine use at the time of birth may cause neonatal abstinence syndrome, requiring long-term hospitalization. Multiple social problems require a multidisciplinary team approach.
Asunto(s)
Buprenorfina/efectos adversos , Antagonistas de Narcóticos/efectos adversos , Trastornos Relacionados con Opioides/rehabilitación , Efectos Tardíos de la Exposición Prenatal/epidemiología , Efectos Tardíos de la Exposición Prenatal/etiología , Trastornos Psicomotores/epidemiología , Buprenorfina/orina , Femenino , Humanos , Recién Nacido , Masculino , Embarazo , Complicaciones del Embarazo , Efectos Tardíos de la Exposición Prenatal/orina , Trastornos Psicomotores/inducido químicamente , Abuso de Sustancias por Vía Intravenosa/epidemiologíaRESUMEN
BACKGROUND: Exposure to illicit drugs in utero is associated with low birth weight and premature birth. Therefore, maintenance therapy for opioid dependence during pregnancy has been recommended to help withdrawal from street drugs, in order to improve maternal health and decrease risks to the fetus. METHODS: In 2002-2005, 67 pregnancies of 66 buprenorphine users were followed prospectively in an outpatient multidisciplinary antenatal setting by an obstetrician, a midwife, a psychiatric nurse and a social worker. Decreasing doses or even abstinence from buprenorphine was encouraged. Outcome measures were daily buprenorphine dose, fetal growth, gestational age at birth, mode of delivery, birth weight, Apgar scores, umbilical pH values, and occurrence of neonatal abstinence syndrome [NAS]. National statistics were used as reference values. RESULTS: The daily dose of buprenorphine decreased by 2.3 mg (median, range increase of 8 mg to decrease of 24 mg). There were no more incidences of premature birth, cesarean section, low Apgar scores (< or = 6) or umbilical artery pH <7.05 at birth than in the national register, despite the lower birth weight. A total of 91% of the infants needed treatment in a neonatal care unit, 76% had NAS, and 57% needed morphine replacement therapy. Seven infants were taken into care directly from the maternity hospital. Two sudden infant deaths occurred later. CONCLUSIONS: The pregnancies and deliveries of buprenorphine-using women were uneventful, but severe NAS and need for morphine replacement therapy was seen in 57% of the buprenorphine-exposed newborns. A high number of sudden infant deaths occurred.
Asunto(s)
Buprenorfina/efectos adversos , Narcóticos/efectos adversos , Síndrome de Abstinencia Neonatal/etiología , Trastornos Relacionados con Opioides/rehabilitación , Complicaciones del Embarazo/rehabilitación , Resultado del Embarazo , Peso al Nacer/efectos de los fármacos , Buprenorfina/administración & dosificación , Femenino , Anticuerpos contra la Hepatitis C/sangre , Humanos , Recién Nacido , Morfina/uso terapéutico , Narcóticos/administración & dosificación , Síndrome de Abstinencia Neonatal/tratamiento farmacológico , Embarazo , Estudios Prospectivos , Fumar/epidemiología , Muerte Súbita del Lactante/epidemiologíaRESUMEN
Cohen syndrome is an uncommon autosomal recessive disorder whose diagnosis is based on the clinical picture of nonprogressive psychomotor retardation and microcephaly, characteristic facial features, retinal dystrophy, and intermittent neutropenia. We have refined the critical region on chromosome 8q22 by haplotype analysis, and we report the characterization of a novel gene, COH1, that is mutated in patients with Cohen syndrome. The longest transcript (14,093 bp) is widely expressed and is transcribed from 62 exons that span a genomic region of approximately 864 kb. COH1 encodes a putative transmembrane protein of 4,022 amino acids, with a complex domain structure. Homology to the Saccharomyces cerevisiae VPS13 protein suggests a role for COH1 in vesicle-mediated sorting and transport of proteins within the cell.
Asunto(s)
Anomalías Múltiples/genética , Mutación , Anomalías Múltiples/patología , Adulto , Niño , Cromosomas Humanos Par 8 , Estudios de Cohortes , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/patología , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/patología , Femenino , Humanos , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Masculino , Proteínas de la Membrana/genética , Microcefalia/genética , Microcefalia/patología , Datos de Secuencia Molecular , Homología de Secuencia de Aminoácido , Síndrome , Proteínas de Transporte VesicularRESUMEN
Cohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The pleiotropic phenotype, combined with insufficient clinical data, often leads to an erroneous diagnosis and has led to confusion in the literature. Here, we report the results of a comprehensive genotype-phenotype study on the largest cohort of patients with Cohen syndrome assembled to date. We found 22 different COH1 mutations, of which 19 are novel, in probands identified by our diagnostic criteria. In addition, we identified another three novel mutations in patients with incomplete clinical data. By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria ("Cohen-like" syndrome). This study provides a molecular confirmation of the clinical phenotype associated with Cohen syndrome and provides a basis for laboratory screening that will be valuable in its diagnosis.