RESUMEN
Background and Objectives: A functionally univentricular heart is the term used to describe congenital heart defects where it is impossible to restore two pumping chambers. These lesions are associated with high mortality, morbidity, and medical resource utilization. The aim of this study was to review incidence and outcomes of patients with a functionally univentricular heart at the only pediatric cardiac surgery center in Latvia. Methods: We performed a retrospective review of medical records of (i) all children with a functionally univentricular heart treated at the Clinic of Pediatric Cardiology and Cardiac Surgery, and (ii) all prenatally diagnosed cases of univentricular heart at Children's Clinical University Hospital in Latvia. We reviewed data regarding children born from January 1, 2007, to December 31, 2015. The children's cardiac anatomy and interventions were categorized in accordance with the International Pediatric and Congenital Cardiac Code (v3.3). Results: During the study period, 49 patients with a functionally univentricular heart were admitted to Children's Clinical University Hospital with a corrected incidence of 0.69 per 1000 live births per year. There were 26 patients that had a hypoplastic left ventricle, and 22 patients that had a hypoplastic right ventricle, while one patient had an indeterminate ventricle. Thirty (61.2%) patients had died by the end of data collection. Twenty-one of the 30 deaths occurred before or immediately after stage I surgical palliation. Cumulative neonatal and 5-year survival of patients with a hypoplastic right ventricle was 81.8% and 63.6%, respectively; for patients with hypoplastic left ventricle-46.2% and 17.3%, respectively. Discussion: This is the first mid-term outcome study of patients with a univentricular heart in Latvia. The high mortality reflects the challenges of a small-volume, developing congenital cardiac surgery center. Data from this study will be used as a baseline for quality improvement.
Asunto(s)
Cardiopatías Congénitas/mortalidad , Evaluación de Resultado en la Atención de Salud/estadística & datos numéricos , Diagnóstico Prenatal/estadística & datos numéricos , Disfunción Ventricular/mortalidad , Procedimientos Quirúrgicos Cardíacos/mortalidad , Femenino , Cardiopatías Congénitas/diagnóstico , Hospitales Pediátricos/estadística & datos numéricos , Humanos , Incidencia , Lactante , Recién Nacido , Letonia/epidemiología , Masculino , Embarazo , Estudios Retrospectivos , Disfunción Ventricular/congénito , Disfunción Ventricular/diagnósticoRESUMEN
BACKGROUND AND OBJECTIVE: North Carolina macular dystrophy (NCMD) is a very rare autosomal dominant hereditary disease. Up to date there are three types of NCMD described and consequently named macular dystrophy, retinal: MCDR1, MCDR2 and MCDR3. The aim of this study was to perform linkage and copy number variation analysis for the family affected by NCMD followed by the selected candidate gene sequencing. MATERIALS AND METHODS: This study concerned a 3-generation, non-consanguineous Latvian family with NCMD. Genome-wide scan, copy number variation and non-parametric linkage analysis was performed. Analysis resolved the locus of interest to the 5p15.33 region. Two of the genes, iroquois homeobox 2 (IRX2) and iroquois homeobox 4 (IRX4), were selected and sanger sequencing was performed. RESULTS: Linkage analysis indicated a region on chromosome 5 for the analyzed family, corresponding to a genetic locus previously described for MCDR3 (5p15-p13). Chromosomal aberrations were not identified in the affected family members. An upstream intron variant (NM_001278634: c.-139G > A (rs6876836)) in IRX4 gene segregated with NCMD phenotype in the analyzed family. CONCLUSIONS: It is unlikely to be the causative mutation of NCMD due to its high minor allele frequency 0.3532. Therefore, the role of IRX2 and IRX4 genes in the pathogenesis of NCMD has not been proved. Considerable variability in visual acuity between individuals of the same age group in all the families examined was noted. No overlap between NCMD grade and family generation was seen in the family described in the present study.
Asunto(s)
Cromosomas Humanos Par 5/genética , Distrofias Hereditarias de la Córnea/genética , Adolescente , Adulto , Niño , Preescolar , Distrofias Hereditarias de la Córnea/diagnóstico por imagen , Variaciones en el Número de Copia de ADN , Femenino , Ligamiento Genético , Sitios Genéticos , Marcadores Genéticos , Proteínas de Homeodominio/genética , Humanos , Letonia , Masculino , Persona de Mediana Edad , Linaje , Análisis de Secuencia de ADN , Tomografía de Coherencia Óptica , Factores de Transcripción/genéticaRESUMEN
BACKGROUND: Postoperative pain is a common problem among intensive care patients. Pain management includes pain assessment and documentation, patient care, and pharmacological treatment. MATERIALS AND METHODS: The study used a prospective, cross-sectional design. Nineteen intensive care nurses and 72 intensive care patients after cardiac surgery with sternotomy approach were studied. Toronto Pain Management Inventory was used to assess nurses and the 2010 Revised American Pain Society Patient Outcome Questionnaire was used to assess the patients. A research protocol was used to document pharmacological treatment data and Visual Analog Scale (VAS) pain measurements. The pharmacological therapy data was available for 72 patients, but patient satisfaction measurements were acquired from 52 patients. RESULTS: Postoperative pain for intensive care patients after cardiac surgery is mostly mild (68.66%). Pain intensity had a tendency to decrease over time, from a mean VAS score of 4.66 two hours after extubation to a mean VAS score of 3.12 twelve hours after extubation. Mostly opioids (100%) and nonsteroidal anti-inflammatory drugs (NSAIDs, 77.8%) were used for pharmacological treatment, and treatment was adjusted according to pain levels and patient needs. Patient satisfaction regarding pain management in the first 24 hours after surgery was high (94.2%), even though the nurses' pain knowledge was average (X = 60.6 ± 7.3%). CONCLUSIONS: An individualized pain management plan requires pain documentation and ensures high patient satisfaction. Pain levels after cardiac surgery with sternotomy approach are mostly mild and patient satisfaction is high.
RESUMEN
Autosomal dominant North Carolina macular dystrophy (NCMD) is believed to represent a failure of macular development. The disorder has been linked to two loci, MCDR1 (chromosome 6q16) and MCDR3 (chromosome 5p15-p13). Recently, non-coding variants upstream of PRDM13 (MCDR1) and a duplication including IRX1 (MCDR3) have been identified. However, the underlying disease-causing mechanism remains uncertain. Through a combination of sequencing studies on eighteen NCMD families, we report two novel overlapping duplications at the MCDR3 locus, in a gene desert downstream of IRX1 and upstream of ADAMTS16. One duplication of 43 kb was identified in nine families (with evidence for a shared ancestral haplotype), and another one of 45 kb was found in a single family. Three families carry the previously reported V2 variant (MCDR1), while five remain unsolved. The MCDR3 locus is thus refined to a shared region of 39 kb that contains DNAse hypersensitive sites active at a restricted time window during retinal development. Publicly available data confirmed expression of IRX1 and ADAMTS16 in human fetal retina, with IRX1 preferentially expressed in fetal macula. These findings represent a major advance in our understanding of the molecular genetics of NCMD and provide insights into the genetic pathways involved in human macular development.
Asunto(s)
Proteínas ADAMTS/genética , Distrofias Hereditarias de la Córnea/genética , Proteínas del Ojo/genética , Sitios Genéticos , Proteínas de Homeodominio/genética , Factores de Transcripción/genética , Proteínas ADAMTS/metabolismo , Adulto , Secuencia de Bases , Duplicación Cromosómica , Cromosomas Humanos Par 5/química , Cromosomas Humanos Par 6/química , Distrofias Hereditarias de la Córnea/diagnóstico por imagen , Distrofias Hereditarias de la Córnea/patología , Proteínas del Ojo/metabolismo , Familia , Femenino , Feto , Expresión Génica , Haplotipos , Proteínas de Homeodominio/metabolismo , Humanos , Masculino , Retina/metabolismo , Retina/patología , Análisis de Secuencia de ADN , Tomografía de Coherencia Óptica , Factores de Transcripción/metabolismoRESUMEN
Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision. This study describes a patient with retinitis pigmentosa caused by a mutation in the ABCA4 gene with complex allele c.1622T>C, p.L541P; c.3113C>T, p.A1038V in homozygous state.