RESUMO
BACKGROUND: The neutrophil-to-lymphocyte ratio (NLR) is a simple, cost-effective index of inflammation that can be measured by peripheral blood count. This study aimed to reveal that a high NLR value could be a prognostic marker for mortality risk in preterm babies born with IVH. METHODS: Preterm babies who had been followed up in the neonatal intensive care unit (ICU) between 2018 and 2020 were included in the study. These patients were examined in two groups, those who had had IVH and those who had not. The patients were evaluated by the week of birth, gender, first-minute APGAR score and NLR obtained from the first postnatal peripheral blood sample. RESULTS: A total of 113 babies had been born preterm and had been treated in the newborn intensive care unit (NICU) were included in the study. Intraventricular hemorrhage (IVH) was observed in 26 (23%) of the infants, and a total of 14 (12.4%) died, with the mortality rate being higher among those with IVH than those without (P = 0.026). There was also a statistically significant difference in the NLR between infants with IVH who died and those who did not (P < 0.001). NLR above 1.5 had 33.7 times higher risk of mortality compared to those with an NLR of 1.5 or below. CONCLUSIONS: This was the first study to examine the relationship between the NLR and mortality in preterm babies with IVH. This study showed that a high NLR was strongly associated with mortality in premature infants with low APGAR scores and having IVH.
Assuntos
Recém-Nascido Prematuro , Neutrófilos , Lactente , Recém-Nascido , Humanos , Hemorragia Cerebral , LinfócitosRESUMO
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity regulator (VIPAR). Cardinal features of ARC include congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life. We report two patients presenting with a mild ARC phenotype, now 5.5 and 3.5 years old. Both patients were compound heterozygotes with the novel VPS33B donor splice-site mutation c.1225+5G>C in common. Immunoblotting and complementary DNA analysis suggest expression of a shorter VPS33B transcript, and cell-based assays show that c.1225+5G>C VPS33B mutant retains some ability to interact with VIPAR (and thus partial wild-type function). This study provides the first evidence of genotype-phenotype correlation in ARC and suggests that VPS33B c.1225+5G>C mutation predicts a mild ARC phenotype. We have established an interactive online database for ARC (https://grenada.lumc.nl/LOVD2/ARC) comprising all known variants in VPS33B and VIPAR. Also included in the database are 15 novel pathogenic variants in VPS33B and five in VIPAR.
Assuntos
Artrogripose/diagnóstico , Artrogripose/genética , Proteínas de Transporte/genética , Colestase/diagnóstico , Colestase/genética , Estudos de Associação Genética , Insuficiência Renal/diagnóstico , Insuficiência Renal/genética , Proteínas de Transporte Vesicular/genética , Pré-Escolar , Feminino , Células HEK293 , Heterozigoto , Humanos , Masculino , Modelos Moleculares , Técnicas de Diagnóstico Molecular , Transporte Proteico , Sítios de Splice de RNA , Análise de Sequência de DNARESUMO
The coexistence of pyloric atresia (PA) and epidermolysis bullosa (EB) is a rare but well-known surgical emergency in neonates. PA/EB is described by the association of atresia of the pylorus and bullous lesions on the skin. Ninety one cases have been reported in the literature to date. We present two new cases and evaluate the association of PA/ EB, its etiopathogenesis and the clinical properties. Case 1: A three-day-old female presented with nonbilious vomiting and bullous lesions 2-3 cm in diameter on the extremities. Abdominal X-ray showed a single air-fluid level in the left upper quadrant. At laparotomy, we found PA and performed a pyloro-pylorostomy. The patient died due to sepsis complication of EB two months after surgery. Case 2: A two-day-old male presented with severe dermal bullous lesions on the trunk, neck and extremities. His stomach was dilated and there was no gas distally. We found PA and performed gastroduodenostomy. Initially, he tolerated the feeding well, but he died due to severe sepsis on the postoperative 23rd day. Almost all neonates born with the PA/EB result in a fatal outcome in the first few years. The complications related to EB are usually the cause of death. Even after successful repair of PA, skin lesions lead to death due to infection.
Assuntos
Displasia Ectodérmica/complicações , Epidermólise Bolhosa/complicações , Obstrução da Saída Gástrica/complicações , Piloro/anormalidades , Sepse/etiologia , Displasia Ectodérmica/genética , Evolução Fatal , Feminino , Obstrução da Saída Gástrica/cirurgia , Humanos , Recém-Nascido , Masculino , Piloro/cirurgiaRESUMO
In spite of high rates of morbidity and mortality in herpes simplex virus (HSV) encephalitis, however, it is one of the exceptional viral infections with specific and effective therapy. In this report a HSV encephalitis case who was clinically unresponsive to acyclovir treatment, has been presented. An 11 months old girl patient has been brought to our clinic with the complaints of high fever and focal convulsions. Analysis of cerebrospinal fluid (CSF) revealed decreased glucose level and abundant red blood cells, despite it was not traumatic. The other CSF biochemical findings were found normal. Viral serology performed with CSF yielded negative result for HSV-1 IgG, positive result for HSV-2 IgG, and negative result for HSV-1/2 IgM, however, antibody index could not be estimated since it was not possible to obtain a simultaneous serum sample. Cranial magnetic resonance imaging (MRI) showed contrast material enhancement on bilateral temporal lobes. There was no growth in the CSF cultures. Acyclovir therapy (30mg/kg/day) was started with the prediagnosis of herpes encephalitis. In the third week of therapy CSF analysis was repeated because of the presence of partial paroxysmal attacts and absence of sufficient clinical improvement. In this CSF sample HSV-1 DNA was found positive by real-time polymerase chain reaction. Since CSF findings were still abnormal and the clinical picture worsened despite 21 days of therapy, the dose of acyclovir was increased to 60 mg/kg/day (3 weeks) with a possible drug resistance problem. Control brain MRI showed contrast enhancement on bilateral temporal lobes, with more intensivity in left, and encephalomalacia. Valproic acid and haloperidol were given to the patient for the treatment of permanent partial paroxysms and orofacial dyskinesis, developing in the follow-up period, respectively. After getting these complications under control, the patient was discharged and taken into follow-up. As a result, although it could not be possible to confirm the drug resistance by molecular methods, it was thought that this might be both a clinical and virological resistance phenomenon, because of the detection of HSV-DNA in the CSF sample during the period of severity of the illness.
Assuntos
Aciclovir/uso terapêutico , Antivirais/uso terapêutico , Encefalite por Herpes Simples/tratamento farmacológico , Encéfalo/patologia , Líquido Cefalorraquidiano/citologia , Líquido Cefalorraquidiano/virologia , DNA Viral/líquido cefalorraquidiano , Farmacorresistência Viral , Encefalite por Herpes Simples/líquido cefalorraquidiano , Encefalite por Herpes Simples/diagnóstico , Contagem de Eritrócitos , Feminino , Glucose/líquido cefalorraquidiano , Humanos , Lactente , Imageamento por Ressonância Magnética , Simplexvirus/efeitos dos fármacos , Simplexvirus/genética , Simplexvirus/isolamento & purificação , Falha de TratamentoRESUMO
OBJECTIVES: To describe the effect of extremely advanced maternal age (EAMA) on maternal/neonatal outcomes. METHODS: This was a case-control study in which 127 women ≥40 years at the time of delivery out of 2853 singleton hospital deliveries in Ondokuz Mayis University between 1 January 2008 and 31 August 2010 constituted the study group. One hundred and twenty-seven else were chosen randomly out of 2412, 21-35 years old women, via a computer system as controls. Demographic features of 254 mothers and infants as well as maternal and neonatal complications were recorded. RESULTS: Mean maternal age was 41.5 ± 1.9 (40-49) years in EAMA group and 28.9 ± 4.2 (21-35) years in controls. Primigravidity was 19.6% in the EAMA group, whereas 37.8% in controls (p = 0.003). No difference was found between groups according to route of delivery, stillbirth, preterm birth, congenital abnormalities, gender of babies, NICU admission and respiratory problems (for all p > 0.05). A 5th min Apgar score <7 was more frequent in babies born to EAMA mothers compared to controls (9.8% versus 4.9%, p = 0.004). CONCLUSION: The present study shows that EAMA mothers and their offsprings have similar peri and neonatal risks compared to younger mothers, except lower 5th minute Apgar scores. We conclude that with good perinatal care, EAMA women and their babies can pass through the perinatal period with similar risks of younger women.
Assuntos
Idade Materna , Resultado da Gravidez/epidemiologia , Adulto , Feminino , Humanos , Recém-Nascido , Pessoa de Meia-Idade , Gravidez , Estudos Retrospectivos , Turquia/epidemiologia , Adulto JovemAssuntos
Adenilossuccinato Liase/deficiência , Adenilossuccinato Liase/genética , Agenesia do Corpo Caloso/fisiopatologia , Transtorno Autístico/genética , Deficiências do Desenvolvimento/fisiopatologia , Epilepsia/fisiopatologia , Lisencefalia/fisiopatologia , Hipotonia Muscular/fisiopatologia , Erros Inatos do Metabolismo da Purina-Pirimidina/genética , Síndrome do Desconforto Respiratório do Recém-Nascido/fisiopatologia , Agenesia do Corpo Caloso/diagnóstico por imagem , Transtorno Autístico/diagnóstico , Transtorno Autístico/fisiopatologia , Vermis Cerebelar/anormalidades , Vermis Cerebelar/diagnóstico por imagem , Córtex Cerebral/anormalidades , Córtex Cerebral/diagnóstico por imagem , Eletroencefalografia , Heterozigoto , Humanos , Recém-Nascido , Lisencefalia/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Mutação , Tamanho do Órgão , Erros Inatos do Metabolismo da Purina-Pirimidina/diagnóstico , Erros Inatos do Metabolismo da Purina-Pirimidina/fisiopatologia , Sequenciamento do ExomaRESUMO
The aim of this study was to analyze the sociodemographic features, postoperative complications, long-term problems, and cost of care of patients followed in the neonatal intensive care unit (NICU) with a diagnosis of neural tube defects (NTDs). Babies with NTD followed in the Neonatology Unit of Ondokuz Mayis University Faculty of Medicine between January 2003 and December 2011 were analyzed retrospectively. One hundred (1.2%) of 8408 babies admitted to the NICU were diagnosed as NTD during the study period. Of the cases with NTD, 74% of mothers were graduates of primary school/illiterate, and none had used folic acid (FA) preconceptionally. Prenatal diagnosis was made in 72%, but parents had chosen not to terminate the pregnancy. The most frequent type and site of NTD was meningomyelocele (82%) of the lumbosacral region (36%). In 80% of the babies, the NTD sac was closed with in the first 72 hours of life. The most frequently observed postoperative complications were wound infection and septicemia. The mortality rate of babies with NTD during the follow-up period was 7%, and all deaths occurred in the first year of life. Sixty-two percent of the patients had neurologic deficits on follow-up. Patients were rehospitalized during the follow-up for an average of 2.9 times. Neural tube defect (NTD) is a disabling problem, with operations, rehospitalizations and other costly treatments. Maternal education regarding preconceptional FA use/fortification of food with FA and appropriate guidance to the family with prenatal diagnosis will decrease the incidence and burden of the disease.
Assuntos
Defeitos do Tubo Neural , Procedimentos Neurocirúrgicos , Cuidado Pré-Natal/métodos , Diagnóstico Pré-Natal , Centros de Atenção Terciária , Adulto , Feminino , Humanos , Incidência , Recém-Nascido , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/cirurgia , Gravidez , Estudos RetrospectivosRESUMO
Primary subacute haematogenous osteomyelitis is one of the causes of limp. It usually involves tubular bones. Flat and small bones are affected less commonly. Diagnosis is difficult and usually takes weeks together for completion. Salmonella spp. can be isolated as a cause of primary subacute haematogenous osteomyelitis, if a usually underlying disorder, such as sickle cell anemia is associated. In this study, we present a child with normal immunity diagnosed as Salmonella primary subacute haematogenous osteomyelitis of the navicular bone, which is a rare condition. Primary subacute haematogenous osteomyelitis must be considered as a cause of limp for timely diagnosis and treatment.