RESUMO
BACKGROUND: Donor human milk (DHM) has been recommended for premature infants if mothers' own milk is not available. The aim of this study was to increase the knowledge about the utilization rate and handling of DHM among neonatal units in Germany, Austria und Switzerland. METHODS: Online survey of utilization rates and handling practices of DHM of all neonatal units within Germany, Austria and Switzerland providing care for premature infants less than 32 weeks of gestation. RESULTS: DHM utilization rate of 35% is low (50/142) within those 54% of units that responded to our survey (142/261). Only 26/50 units have DHM routinely integrated into their nutritional management protocols. Lacking access and difficult procurement were cited as the main obstacles for not using DHM. However, eight out of ten respondents currently not using DHM would like to introduce DHM in their unit if available. There were differences in most aspects of DHM handling including donor recruitment and screening, testing and treatment of milk microbiota and commencement of DHM utilization. Breastmilk feeding rates were increased in units utilizing DHM compared to those not utilizing DHM. CONCLUSIONS: DHM is underutilized in most neonatal units caring for premature infants within participating countries. Lacking access to DHM represents the main barrier for utilizing DHM for premature infants.
Assuntos
Bancos de Leite Humano , Leite Humano , Animais , Áustria , Feminino , Alemanha , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Inquéritos e Questionários , SuíçaRESUMO
Clinical presentation of hypopituitarism in the neonate may be variable, ranging from absent to severe nonspecific symptoms and may be life-threatening in patients with adrenocorticotropic hormone deficiency. The LIM homeobox gene 4 (LHX4) transcription factor regulates early embryonic development of the anterior pituitary gland. Autosomal dominant mutations in LHX4 cause congenital hypopituitarism with variable combined pituitary hormone deficiency (CPHD). We report on a neonate with unexplained heart failure and minor physical anomalies, suggesting a midline defect. She was diagnosed with complete CPHD. Cardiac function was rescued by replacement with hydrocortisone and thyroxine; hypoglycaemia stopped under growth hormone therapy. Magnetic resonance imaging revealed a dysgenetic pituitary gland suggesting an early developmental defect. Array comparative genomic hybridization showed a maternally inherited 1.5-megabase microdeletion in 1q25.2q25.3, including the LHX4 gene. Haploinsufficiency of LHX4 likely explains the predominant pituitary phenotype in the proposita and we suggest variable intrafamilial penetrance of the inherited microdeletion. To the best of our knowledge, we are the first to report on heart failure as a rare nonspecific symptom of treatable CPHD in the newborn. Variably penetrant pituitary insufficiency, including this severe and atypical presentation, can be correlated with LHX4 insufficiency and highlights the role of LHX4 for pituitary development.
Assuntos
Alelos , Aberrações Cromossômicas , Deleção Cromossômica , Cromossomos Humanos Par 1/genética , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/genética , Hipopituitarismo/diagnóstico , Hipopituitarismo/genética , Proteínas com Homeodomínio LIM/genética , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/genética , Fatores de Transcrição/genética , Quimioterapia Combinada , Feminino , Insuficiência Cardíaca/tratamento farmacológico , Terapia de Reposição Hormonal , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Hidrocortisona/uso terapêutico , Hipopituitarismo/tratamento farmacológico , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Malformações do Sistema Nervoso/tratamento farmacológico , Penetrância , Fenótipo , Hipófise/anormalidades , Hipófise/patologia , Tiroxina/uso terapêuticoRESUMO
Array genomic hybridization (AGH) has recently been implemented as a diagnostic tool for the detection of submicroscopic copy number variants (CNVs) in patients with developmental disorders. However, there is no consensus regarding the choice of the platform, the minimal resolution needed and systematic interpretation of CNVs. We report our experience in the clinical diagnostic use of high resolution AGH up to 100 kb on 131 patients with chromosomal phenotypes but previously normal karyotype. We evaluated the usefulness in our clinics and laboratories by the detection rate of causal CNVs and CNVs of unknown clinical significance and to what extent their interpretation would challenge the systematic use of high-resolution arrays in clinical application. Prioritizing phenotype-genotype correlation in our interpretation strategy to criteria previously described, we identified 33 (25.2%) potentially pathogenic aberrations. 16 aberrations were confirmed pathogenic (16.4% syndromic, 8.5% non-syndromic patients); 9 were new and individual aberrations, 3 of them were pathogenic although inherited and one is as small as approx 200 kb. 13 of 16 further CNVs of unknown significance were classified likely benign, for 3 the significance remained unclear. High resolution array allows the detection of up to 12.2% of pathogenic aberrations in a diagnostic clinical setting. Although the majority of aberrations are larger, the detection of small causal aberrations may be relevant for family counseling. The number of remaining unclear CNVs is limited. Careful phenotype-genotype correlations of the individual CNVs and clinical features are challenging but remain a hallmark for CNV interpretation.
Assuntos
Anormalidades Múltiplas/genética , Transtorno Autístico/genética , Aberrações Cromossômicas , Cromossomos Humanos , Deficiências do Desenvolvimento/genética , Hibridização de Ácido Nucleico/métodos , Estudos de Associação Genética , Humanos , Análise de Sequência com Séries de Oligonucleotídeos , Receptores de Ácido Caínico/genética , Receptor de GluK2 CainatoRESUMO
OBJECTIVE: To prospectively assess the incidence rates and characteristics of central venous line associated bloodstream infections (CLABSI) in one institution. METHODS: All patients with indwelling central venous catheters (CVC) between 1 April 2008 and 31 March 2009 were enrolled. The medical records of patients were reviewed and information on relevant characteristics entered into a standardised questionnaire. Central laboratory records were regularly checked for positive blood cultures in study patients. RESULTS: There were 209 CVC for a total of 14752 CVC days in 152 patients (88 males, 58%) including neonates and patients with surgical conditions and haemato-oncological and other underlying diseases. Median age at CVC insertion was 3 months (IQR 0-56 months). Fourteen CLABSI occurred in 13 patients. Overall CLABSI incidence (per 1000 CVC days) was 0.95 (9.71 for silastic percutaneous CVC, 7.65 for other CVC, 1.97 for Broviac, 0.18 for Port-a-cath). CVC remained in place for ≤ 14 days in 109 (52%) instances, 15-90 days in 45 (22%) instances and > 90 days in 55 (26%) instances. The incidence of CLABSI in these three categories was 3.36, 4.36 and 0.47, respectively. Predominating cultured organisms were coagulase-negative staphylococci (N=3), S. aureus (N=3), and Enterococcus spp. (N=3). CONCLUSIONS: CLABSI incidence varied by type of catheter and type of patient, with the highest risk in neonates (with silastic percutaneous CVC) and by far the lowest risk for Port-a-cath CVC. Prophylactic measures to reduce CLABSI should be tailored to individual types of catheters and patient characteristics.
Assuntos
Bacteriemia/etiologia , Infecções Relacionadas a Cateter/etiologia , Cateterismo Venoso Central/efeitos adversos , Infecção Hospitalar/etiologia , Candidemia/etiologia , Cateterismo Venoso Central/instrumentação , Cateterismo Venoso Central/métodos , Pré-Escolar , Métodos Epidemiológicos , Contaminação de Equipamentos , Feminino , Unidades Hospitalares , Humanos , Lactente , Recém-Nascido , MasculinoRESUMO
OBJECTIVE: To investigate maternal and infant factors associated with midwife-reported crying problems in the early postpartum period. DESIGN: Case control study. SETTING: Postnatal home care in Switzerland. PARTICIPANTS: Seven thousand seven hundred and sixty-five mother/child dyads who received postnatal homecare by midwives (n=1,636 cases of midwife-reported crying problems, n=6,129 controls). METHODS: We investigated factors associated with infant crying problems during the postpartum period as documented in the Statistical Database of Independent Midwives' Services in Switzerland (2007). Using case control methodology, we matched all identified cases of crying problems with controls who had been cared for by the same midwife. A conditional logistic regression model was used to analyze the associations of reported crying problems with maternal and infant factors. RESULTS: Maternal health and mood problems in the immediate postpartum period were significantly associated with reported crying problems. Maternal health and mood problems included physical complications after birth, psychological decompensation, and depression. Further risk factors for infant crying problems were planned resumption of paid work directly after paid maternity leave (at 15-16 weeks postpartum) and immigrant status. A protective effect was observed for higher parity. CONCLUSIONS: Crying problems in the early postpartum period are associated with mothers' physical, psychological, and social conditions. Care practices that promote new mothers' physical and psychological recovery after birth could be a promising strategy to prevent early crying problems. Specific support is important for mothers with early signs of depression or decompensation, intention to return early to paid work, immigrant background, and for first-time mothers.
Assuntos
Choro , Mães , Período Pós-Parto , Adulto , Afeto , Estudos de Casos e Controles , Choro/fisiologia , Choro/psicologia , Emigrantes e Imigrantes/psicologia , Feminino , Serviços de Assistência Domiciliar/organização & administração , Humanos , Modelos Logísticos , Mães/educação , Mães/psicologia , Mães/estatística & dados numéricos , Análise Multivariada , Enfermeiros Obstétricos/organização & administração , Enfermeiros Obstétricos/psicologia , Licença Parental , Paridade , Cuidado Pós-Natal/organização & administração , Cuidado Pós-Natal/psicologia , Período Pós-Parto/fisiologia , Período Pós-Parto/psicologia , Valor Preditivo dos Testes , Gravidez , Transtornos Puerperais/psicologia , Fatores de Risco , Apoio Social , Fatores Socioeconômicos , Suíça , Mulheres Trabalhadoras/psicologiaRESUMO
The Basel clinic for parents with infants and toddlers is a special interdisciplinary service. The authors present the concept and practice of treatment. Further they show the results of documentation and evaluation. In most cases regulation and sleeping disorders are treated. Temperament ratings made by the mothers of the treated children exhibit more difficult behaviour in comparison to a normal sample. These ratings had no correlation with the mothers' depression scores which rank much higher than the control group. The outcome ratings by the psychotherapists show that despite the short duration of the treatment and severe cases therapeutical success could be achieved. This outlines the importance of such specialized services for early infant crying and other disturbances of the early childhood.
Assuntos
Transtornos do Comportamento Infantil/terapia , Educação , Equipe de Assistência ao Paciente , Psicoterapia Breve , Encaminhamento e Consulta , Transtornos do Sono-Vigília/terapia , Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/psicologia , Pré-Escolar , Choro , Depressão Pós-Parto/diagnóstico , Depressão Pós-Parto/psicologia , Depressão Pós-Parto/terapia , Feminino , Humanos , Lactente , Masculino , Transtornos do Sono-Vigília/diagnóstico , Transtornos do Sono-Vigília/psicologia , Suíça , Temperamento , Resultado do TratamentoRESUMO
We report on a newborn infant with complex congenital heart disease (CHD) featuring double outlet right ventricle and hypoplastic left ventricle who had postductal oxygen saturation well above 95% and thus eluded pulse oximetry screening for CHD.
Assuntos
Cardiopatias Congênitas/patologia , Triagem Neonatal/métodos , Erros de Diagnóstico , Evolução Fatal , Feminino , Cardiopatias Congênitas/diagnóstico , Humanos , Recém-Nascido , OximetriaRESUMO
Coumarin embryopathy (CE) is a well-documented sequelae of prenatal exposure to vitamin K antagonists. We report on a female premature infant (25 weeks' gestation) born to a mother who had received phenprocoumon during pregnancy following mechanical heart valve replacement. The infant presented with impaired coagulation, intraventricular and minor parenchymal cerebral haemorrhages and midface hypoplasia typical of CE. In addition, there was hepatopathy with conjugated hyperbilirubinemia, elevated liver enzymes and repeated episodes of hypoglycemia upon attempts to discontinue glucose supplementation, all lasting for 4 months. There was corneal opacity with anterior segment dygenesis in the left eye, and persistent pupillary membrane, cataract and persistent hyperplastic primary vitreous in the right eye. While liver disease is an uncommon but serious side effect of vitamin K antagonists, this is the first report describing neonatal hepatopathy as part of CE. In anticoagulation of pregnant women with mechanical heart valves, vitamin K antagonists should be used with utmost restraint.