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1.
Recurso na Internet em Português | LIS - Localizador de Informação em Saúde | ID: lis-48260

RESUMO

Cientistas do Instituto de Química da USP e da Fiocruz do Rio de Janeiro e da Bahia identificaram consideráveis alterações lipídicas no plasma de recém-nascidos com exposição pré-natal ao vírus da zika.


Assuntos
Microcefalia/diagnóstico , Microcefalia/prevenção & controle , Zika virus , Recém-Nascido/líquido cefalorraquidiano , Infecção por Zika virus/prevenção & controle , Insuficiência Placentária/diagnóstico
2.
BMC Infect Dis ; 21(1): 511, 2021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-34074268

RESUMO

INTRODUCTION: Discontinuation of tuberculosis treatment (DTT) among children in sub-Saharan Africa is a major obstacle to effective tuberculosis (TB) control and has the potential to worsen the emergence of multi-drug resistant TB and death. DTT in children is understudied in Uganda. We examined the level and factors associated with DTT among children at four large health facilities in Kampala Capital City Authority and documented the reasons for DTT from treatment supporters and healthcare provider perspectives. METHODS: We conducted a retrospective analysis of records for children < 15 years diagnosed and treated for TB between January 2018 and December 2019. We held focus group discussions with treatment supporters and key informant interviews with healthcare providers. We defined DTT as the stoppage of TB treatment for 30 or more consecutive days. We used a stepwise generalized linear model to assess factors independently associated with DTT and content analysis for the qualitative data reported using sub-themes. RESULTS: Of 312 participants enrolled, 35 (11.2%) had discontinued TB treatment. The reasons for DTT included lack of privacy at healthcare facilities for children with TB and their treatment supporters, the disappearance of TB symptoms following treatment initiation, poor implementation of the community-based directly observed therapy short-course (CB-DOTS) strategy, insufficient funding to the TB program, and frequent stock-outs of TB drugs. DTT was more likely during the continuation phase of TB treatment compared to the intensive phase (Adjusted odds ratio (aOR), 5.22; 95% Confidence Interval (CI), 1.76-17.52) and when the treatment supporter was employed compared to when the treatment supporter was unemployed (aOR, 3.60; 95% CI, 1.34-11.38). CONCLUSION: Many children with TB discontinue TB treatment and this might exacerbate TB morbidity and mortality. To mitigate DTT, healthcare providers should ensure children with TB and their treatment supporters are accorded privacy during service provision and provide more information about TB symptom resolution and treatment duration versus the need to complete treatment. The district and national TB control programs should address gaps in funding to TB care, the supply of TB drugs, and the implementation of the CB-DOTS strategy.


Assuntos
Tuberculose/tratamento farmacológico , Adolescente , Criança , Pré-Escolar , Terapia Diretamente Observada , Feminino , Grupos Focais , Instalações de Saúde , Humanos , Lactente , Recém-Nascido , Masculino , Razão de Chances , Estudos Retrospectivos , Tuberculose/epidemiologia , Tuberculose/prevenção & controle , Uganda/epidemiologia
3.
Epidemiol Psychiatr Sci ; 30: e42, 2021 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-34085616

RESUMO

AIMS: To determine whether age, gender and marital status are associated with prognosis for adults with depression who sought treatment in primary care. METHODS: Medline, Embase, PsycINFO and Cochrane Central were searched from inception to 1st December 2020 for randomised controlled trials (RCTs) of adults seeking treatment for depression from their general practitioners, that used the Revised Clinical Interview Schedule so that there was uniformity in the measurement of clinical prognostic factors, and that reported on age, gender and marital status. Individual participant data were gathered from all nine eligible RCTs (N = 4864). Two-stage random-effects meta-analyses were conducted to ascertain the independent association between: (i) age, (ii) gender and (iii) marital status, and depressive symptoms at 3-4, 6-8, and 9-12 months post-baseline and remission at 3-4 months. Risk of bias was evaluated using QUIPS and quality was assessed using GRADE. PROSPERO registration: CRD42019129512. Pre-registered protocol https://osf.io/e5zup/. RESULTS: There was no evidence of an association between age and prognosis before or after adjusting for depressive 'disorder characteristics' that are associated with prognosis (symptom severity, durations of depression and anxiety, comorbid panic disorderand a history of antidepressant treatment). Difference in mean depressive symptom score at 3-4 months post-baseline per-5-year increase in age = 0(95% CI: -0.02 to 0.02). There was no evidence for a difference in prognoses for men and women at 3-4 months or 9-12 months post-baseline, but men had worse prognoses at 6-8 months (percentage difference in depressive symptoms for men compared to women: 15.08% (95% CI: 4.82 to 26.35)). However, this was largely driven by a single study that contributed data at 6-8 months and not the other time points. Further, there was little evidence for an association after adjusting for depressive 'disorder characteristics' and employment status (12.23% (-1.69 to 28.12)). Participants that were either single (percentage difference in depressive symptoms for single participants: 9.25% (95% CI: 2.78 to 16.13) or no longer married (8.02% (95% CI: 1.31 to 15.18)) had worse prognoses than those that were married, even after adjusting for depressive 'disorder characteristics' and all available confounders. CONCLUSION: Clinicians and researchers will continue to routinely record age and gender, but despite their importance for incidence and prevalence of depression, they appear to offer little information regarding prognosis. Patients that are single or no longer married may be expected to have slightly worse prognoses than those that are married. Ensuring this is recorded routinely alongside depressive 'disorder characteristics' in clinic may be important.


Assuntos
Antidepressivos , Depressão , Adulto , Antidepressivos/uso terapêutico , Ansiedade , Depressão/diagnóstico , Depressão/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estado Civil , Prognóstico
4.
Sci Total Environ ; 783: 146984, 2021 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-34088118

RESUMO

Perfluoroalkyl and polyfluoroalkyl substances (PFASs), a class of persistent endocrine-disrupting chemicals, are widely used in consumer products due to their unique amphiphilic properties. Previous epidemiological studies suggest association of maternal PFASs exposure and adverse pregnancy outcomes, while evidences about the association are inconsistent. The aim of this systematic review and meta-analysis is to assess the relationship of maternal PFASs exposure and adverse pregnancy outcomes. Twenty-one relevant studies were identified from three databases before 2020. The quality, heterogeneity and possibility of publication bias of included studies were evaluated by Newcastle-Ottawa Scale, Q-statistic and Begg's test, respectively. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were obtained by means of random-effects meta-analysis models. Meta-analysis results revealed that maternal exposure to perfluorooctane sulfonic acid (PFOS) may have a positive association with preterm birth (OR = 1.20, 95% CI: 1.04, 1.38). The pooled estimates also showed limited evidence of association between maternal perfluorononanoic acid (PFNA) exposure and miscarriage (OR = 1.48, 95% CI: 0.92, 2.38) with obvious heterogeneity (I2 = 93.9, p < 0.01). However, no such significant associations were found between the other PFASs and miscarriage, stillbirth and preterm birth. In addition, the subgroup analyses showed that studies on the relationship of maternal PFASs exposure and miscarriage were mainly contributed by developed countries. The meta-analysis results indicated maternal exposure to PFOS can increase the risk of preterm birth. The results of the included studies are inconsistent and the effects of PFASs on human health are complex. Further studies with enough samples are required to verify these findings.


Assuntos
Disruptores Endócrinos , Poluentes Ambientais , Fluorcarbonetos , Nascimento Prematuro , Feminino , Fluorcarbonetos/toxicidade , Humanos , Recém-Nascido , Exposição Materna/efeitos adversos , Gravidez , Nascimento Prematuro/induzido quimicamente , Nascimento Prematuro/epidemiologia
5.
BMC Ophthalmol ; 21(1): 249, 2021 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-34090370

RESUMO

BACKGROUND: ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene. Patients manifest with severe neurologic, cardiac, musculoskeletal and ophthalmic phenotype in combination with dysmorphic features, and almost half of them die before or during the neonatal period. CASE PRESENTATION: A 23 months-old girl presented with severe developmental delay, epilepsy, cortical atrophy, cerebellar vermis hypoplasia and ocular impairment. Facial dysmorphism, clubfeet and multiple joint contractures were observed already at birth. Transferrin isoelectric focusing revealed a type 1 pattern. Funduscopy showed hypopigmentation and optic disc pallor. Profound retinal ganglion cell loss and inner retinal layer thinning was documented on spectral-domain optical coherence tomography imaging. The presence of optic nerve hypoplasia was also supported by magnetic resonance imaging. A gene panel based next-generation sequencing and subsequent Sanger sequencing identified compound heterozygosity for two novel variants c.116del p.(Pro39Argfs*40) and c.1060 C > T p.(Arg354Cys) in ALG3. CONCLUSIONS: Our study expands the spectrum of pathogenic variants identified in ALG3. Thirty-three variants in 43 subjects with ALG3-CDG have been reported. Literature review shows that visual impairment in ALG3-CDG is most commonly linked to optic nerve hypoplasia.


Assuntos
Defeitos Congênitos da Glicosilação , Degeneração Retiniana , Pré-Escolar , Defeitos Congênitos da Glicosilação/genética , Olho , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Recém-Nascido , Manosiltransferases/genética , Fenótipo
6.
BMJ Case Rep ; 14(6)2021 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-34099450

RESUMO

We describe a cluster of six SARS-CoV-2 infections occurring in a crowded neonatal unit in Botswana, including presumed transmission among mothers, postnatal mother-to-neonate transmission and three neonate-to-healthcare worker transmissions. The affected neonate, born at 25 weeks' gestation weighing 785 g, had a positive SARS-CoV-2 test at 3 weeks of age which coincided with new onset of hypoxaemia and worsening respiratory distress. Because no isolation facility could accommodate both patient and mother, they were separated for 10 days, during which time the patient was switched from breastmilk to formula. Her subsequent clinical course was marked by several weeks of supplemental oxygen, sepsis-like presentations requiring additional antibiotics and bronchopulmonary dysplasia. Despite these complications, adequate growth was achieved likely due to early initiation of nutrition. This nosocomial cluster highlights the vulnerabilities of neonates, caregivers and healthcare workers in an overcrowded environment, and underscores the importance of uninterrupted bonding and breast feeding, even during a pandemic.


Assuntos
COVID-19 , Infecção Hospitalar , Complicações Infecciosas na Gravidez , Botsuana/epidemiologia , Infecção Hospitalar/epidemiologia , Feminino , Humanos , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas , Gravidez , SARS-CoV-2
7.
BMJ Case Rep ; 14(6)2021 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-34099451

RESUMO

A late preterm infant was born to a diabetic mother on a background of reduced fetal movements and a poor CTG. It was noted immediately at birth that there was pathology in both upper limbs. Targeted investigation led to the diagnosis of bilateral upper limb arterial thromboses. Prompt assessment and multidisciplinary discussion led to an individualised management plan resulting in a positive outcome.


Assuntos
Nascimento Prematuro , Trombose , Feminino , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Unidades de Terapia Intensiva Neonatal , Parto , Gravidez
8.
BMJ Case Rep ; 14(6)2021 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-34083196

RESUMO

A 10-day-old newborn was taken to the paediatric emergency room due to scrotal swelling. Physical examination showed scrotal enlargement and palpable intrascrotal hard formations. Laboratory blood tests revealed no significant alterations. Testicular ultrasonography showed thickened and hypoechoic scrotal walls and bilateral intrascrotal isoechoic nodules with small internal calcifications. An abdominal X-ray confirmed evidence of bilateral scrotal microcalcifications and small calcifications in the left hypochondrium. Urgent laparotomy performed for scrotal exploration verified the presence of nodular formations on the vaginal tunic of both testicles; the nodules were removed. Bilateral orchidopexy was performed in the same surgical session. When dealing with an acute scrotum in a newborn both emergency radiologists and clinicians should consider the possibility of scrotal meconium pseudocyst as a rare but possible cause of periorchitis.


Assuntos
Doenças dos Genitais Masculinos , Orquite , Criança , Feminino , Doenças dos Genitais Masculinos/diagnóstico por imagem , Doenças dos Genitais Masculinos/etiologia , Doenças dos Genitais Masculinos/cirurgia , Humanos , Recém-Nascido , Masculino , Mecônio , Orquite/diagnóstico por imagem , Orquite/etiologia , Escroto/diagnóstico por imagem , Escroto/cirurgia
9.
Wei Sheng Yan Jiu ; 50(3): 460-465, 2021 May.
Artigo em Chinês | MEDLINE | ID: mdl-34074369

RESUMO

OBJECTIVE: To explore the relationship between dietary inflammatory index(DII), serum interleukin-6(IL-6) of late pregnant women and infant birth weight. METHODS: This study was conducted in late pregnant women who received antenatal care at the Maternal and Children& apos; s Hospital of Baiyun and Yuexiu District in Guangzhou, China between September 2010 and February 2011. Tree consecutive 24-h diet recalls, pre-pregnancy body mass index, maternal education level and etc were collected. DII score was calculated based on data of dietary surveys. Participant were dived into anti-inflammatory group(T1), neutral group(T2) and pro-inflammatory group(T3) according to the tertiles of DII score. Maternal and infant anthropometric profile(n=456) and level of maternal serum IL-6(n=308) were measured. Structrural equation modeling(SEM) was used to explore the relationship between DII, IL-6 and birth weight. RESULTS: In 456 women, the mean DII score was 0. 02±1. 08. Women performed anti-inflammatory diet had higher intake of grain and potato, vegetables, energy, fiber, minerals, vitamins and unsaturated fatty acids, but lower intakes of fruits, diary, fat(% energy) and protein from animal food(P& lt; 0. 05). Average infant birth weight and level of maternal serum IL-6 were(3238. 1±376. 4)g and 4. 05(2. 02, 10. 14) pg/mL respectively. DII of pregnant women was positively correlated with maternal serum IL-6(r=0. 144, P& lt; 0. 05), and IL-6 was negatively correlated with birth weight(r=-0. 184, P& lt; 0. 05). SEM indicated that maternal serum IL-6 may be a mediator in the association between DII and birth weight. CONCLUSION: The diet of pregnant women may change the serum level of IL6, and then affect infant birth weight.


Assuntos
Peso ao Nascer , Dieta , Interleucina-6 , Gestantes , China , Feminino , Humanos , Recém-Nascido , Inflamação , Interleucina-6/sangue , Gravidez
10.
Neoreviews ; 22(6): e392-e397, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34074644

RESUMO

Breast milk provides optimal nourishment for all infants and has special advantages in preterm infants. Breast milk is associated with lower rates of necrotizing enterocolitis and bronchopulmonary dysplasia and improved neurodevelopmental outcomes in the preterm population. Mothers in the NICU may experience multiple psychological, physical, and social/cultural barriers that impede successful breastfeeding. Professional lactation support is of crucial importance in this population. With the social distancing requirements of the pandemic, many clinicians have adopted novel methods of education and communication to ensure continued timely support for NICU mothers.


Assuntos
Aleitamento Materno , Unidades de Terapia Intensiva Neonatal , Lactação , Encaminhamento e Consulta , Telemedicina , Adulto , Feminino , Humanos , Recém-Nascido
11.
J Pak Med Assoc ; 71(5): 1388-1393, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34091620

RESUMO

OBJECTIVE: To assess the growth pattern of children with coeliac disease after the introduction of a gluten-free diet. Method: The retrospective study was conducted at King Abdulaziz University Hospital, Jeddah, Saudi Arabia, and comprised data from January 2015 to December 2018 of children aged 2-16 years with biopsy-proven coeliac disease. Serial measurements of height-for-age and weight-for-age z-scores were recorded at 0, 4, 8, 12 and 16 months. Data on insulin-like growth factor-1 and insulin-like growth factor binding protein-3 obtained at diagnosis and during follow-up was retrieved. Clinical, demographic, and laboratory data was extracted from the patients' medical files. Data was analysed using SPSS 22. RESULTS: Of the 47 patients, 25(53.2%) were boys and 22(46.8%) were girls. The overall mean age was 8.7±3.4 years. There was a significant time effect for weight-for-age and height-for-age z-scores (p<0.001). There was significant increase in the secretion of insulin-like growth factor-1 and insulin-like growth factor binding protein-3 (p<0.05) during the first 8 months of a gluten-free diet. CONCLUSIONS: The administration of gluten-free diet for Saudi children with coeliac disease normalized growth parameters and improved the endogenous secretion of growth factors.


Assuntos
Doença Celíaca , Dieta Livre de Glúten , Proliferação de Células , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Arábia Saudita/epidemiologia
12.
J Pak Med Assoc ; 71(5): 1432-1437, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34091629

RESUMO

OBJECTIVE: To determine the reasons of neonatal referrals from secondary-care to tertiary-care setting, and to assess neonatal outcomes for the referred cases. METHODS: The retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised data from July 2015 to June 2019 Related to all neonates born after 32 weeks of gestation at the satellite secondary-care centres in Kharadar, Garden and Karimabad who had been referred to the main tertiary care hospital. The reason for referral, need of mechanical ventilation, referral place and neonatal outcome were noted. Data was analysed using SPSS 22. RESULTS: Of the 348 cases, 211(60.6%) were boys. The overall mean gestational age was 36.42±2.61 weeks and the mean birth weight was 2.54±0.67 kg. The outcome was neonatal mortality in 42(12%) cases. Of the remaining 306(88%) cases, 284(92.81%) were discharged from the hospital and 22(7.18%) left against medical advice. Overall, mechanical ventilation was needed in 63(18.1%) patients. There was a significant association of mechanical ventilation with low Appearance, Pulse, Grimace, Activity, and Respiration score at 1 and 5 minutes (p<0.001), shorter duration of stay (p=0.007), and aggressive resuscitation requirement at birth (p<0.001). CONCLUSIONS: The most common reasons for referral of newborns to tertiary care hospital were respiratory diseases requiring respiratory support and surgical intervention.


Assuntos
Encaminhamento e Consulta , Atenção Secundária à Saúde , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Paquistão/epidemiologia , Estudos Retrospectivos , Centros de Atenção Terciária
13.
J Pak Med Assoc ; 71(5): 1499-1502, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34091645

RESUMO

Neurofibromatosis type 1 is an autosomal dominant, common genetic disorder that affects many systems, including the skeleton and neurocutaneous system. Skeletal involvement is seen in 38% of patients with NF1. Bowing deformity and pseudarthrosis are observed in 5.7% of the long bones, most of which are common in the tibia. A 13-year-old Somalian girl visited our orthopaedic clinic with complaints of deformity, inability to walk and pain in both legs. The deformity in both legs was present at birth and progressed further. A pathological fracture in the right tibia and a wide range of pseudarthrosis, hamartomatous bone tissues, medullary canal and diaphyseal narrowing towards the pseudoarthrosis range and cortical thickening were observed on her radiographs. Ilizarov technique was used for the case in this study.


Assuntos
Neurofibromatose 1 , Pseudoartrose , Adolescente , Feminino , Humanos , Recém-Nascido , Neurofibromatose 1/complicações , Pseudoartrose/diagnóstico por imagem , Pseudoartrose/etiologia , Pseudoartrose/cirurgia , Radiografia , Tíbia/diagnóstico por imagem , Tíbia/cirurgia , Caminhada
15.
Int J Mol Sci ; 22(10)2021 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-34067945

RESUMO

Perinatal asphyxia is mainly a brain disease leading to the development of neurodegeneration, in which a number of peripheral lesions have been identified; however, little is known about the expression of key genes involved in amyloid production by peripheral cells, such as lymphocytes, during the development of hypoxic-ischemic encephalopathy. We analyzed the gene expression of the amyloid protein precursor, ß-secretase, presenilin 1 and 2 and hypoxia-inducible factor 1-α by RT-PCR in the lymphocytes of post-asphyxia and control neonates. In all examined periods after asphyxia, decreased expression of the genes of the amyloid protein precursor, ß-secretase and hypoxia-inducible factor 1-α was noted in lymphocytes. Conversely, expression of presenilin 1 and 2 genes decreased on days 1-7 and 8-14 but increased after survival for more than 15 days. We believe that the expression of presenilin genes in lymphocytes could be a potential biomarker to determine the severity of the post-asphyxia neurodegeneration or to identify the underlying factors for brain neurodegeneration and get information about the time they occurred. This appears to be the first worldwide data on the role of the presenilin 1 and 2 genes associated with Alzheimer's disease in the dysregulation of neonatal lymphocytes after perinatal asphyxia.


Assuntos
Asfixia/patologia , Linfócitos/patologia , Presenilina-1/metabolismo , Presenilina-2/metabolismo , Asfixia/genética , Asfixia/metabolismo , Estudos de Casos e Controles , Feminino , Regulação da Expressão Gênica , Humanos , Recém-Nascido , Linfócitos/metabolismo , Masculino , Presenilina-1/genética , Presenilina-2/genética
16.
Viruses ; 13(6)2021 05 26.
Artigo em Inglês | MEDLINE | ID: mdl-34073492

RESUMO

The current coronavirus pandemic has affected, in a short time, various and different areas of medicine. Among these, the obstetric field has certainly been touched in full, and the knowledge of the mechanisms potentially responsible for placental damage from SARS-CoV-2 occupy a certain importance. Here we present here a rare case of dichorionic twins born at 30 weeks and 4 days of amenorrhea, one of whom died in the first few hours of life after placental damages potentially related to SARS-CoV-2. We also propose a brief review of the current literature giving ample emphasis to similar cases described.


Assuntos
COVID-19/complicações , Placenta/patologia , Complicações Infecciosas na Gravidez/virologia , SARS-CoV-2/patogenicidade , Adulto , COVID-19/diagnóstico , COVID-19/transmissão , COVID-19/virologia , Feminino , Humanos , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas , Masculino , Complicações do Trabalho de Parto/virologia , Placenta/virologia , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Resultado da Gravidez , Gravidez de Gêmeos , SARS-CoV-2/isolamento & purificação
17.
BMC Pediatr ; 21(1): 259, 2021 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-34074250

RESUMO

BACKGROUND: Neonatal hyperbilirubinemia causing jaundice is common in East Asian population. Uridine diphosphate glucuronosyltransferase isoenzyme (UGT1A1) glucuronidates bilirubin and converts the toxic form of bilirubin to its nontoxic form. METHOD: A retrospective study was conducted to review clinical information of ABO hemolysis neonates (ABO HDN) admitted to the Department of Neonatology, referred for neonatal hyperbilirubinemia, in a large general hospital of southern China from 2011 to 2017. Variation status of UGT1A1 was determined by direct sequencing or genotype assays. RESULT: Sixty-nine ABO HDNs were included into the final analysis. UGT1A1 c.211 G > A mutation (UGT1A1*6, p.Arg71Gly, rs4148323) was significantly associated with the increased bilirubin level in ABO HDNs, after adjusted by age, sex and feeding method (P = 0.019 for TBIL, P = 0.02 for IBIL). Moreover, heterozygous and/or homozygous UGT1A1 mutations in the coding sequence region were significantly associated with the increased risk of developing hazardous hyperbilirubinemia (as defined by TSB > 427 umol/L) as compared those with a normal UGT1A1 genotype (ORadj = 9.16, 95%CI 1.99-42.08, P = 0.002) in the study cohort. CONCLUSION: UGT1A1 variant in coding region is actively involved in the pathogenesis of ABO hemolysis related neonatal hyperbilirubinemia. Genetic assessment of UGT1A1 may be useful for clinical diagnosis of neonatal unconjugated hyperbilirubinemia.


Assuntos
Hiperbilirrubinemia Neonatal , Bilirrubina , China , Glucuronosiltransferase/genética , Humanos , Hiperbilirrubinemia , Hiperbilirrubinemia Neonatal/genética , Recém-Nascido , Mutação , Estudos Retrospectivos
18.
Nat Commun ; 12(1): 3270, 2021 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-34075035

RESUMO

Little is known about the long-term neurological development of children diagnosed with congenital Zika infection at birth. Here, we report the imaging and clinical outcomes up to three years of life of a cohort of 129 children exposed to Zika virus in utero. Eighteen of them (14%) had a laboratory confirmed congenital Zika infection at birth. Infected neonates have a higher risk of adverse neonatal and early infantile outcomes (death, structural brain anomalies or neurologic symptoms) than those who tested negative: 8/18 (44%) vs 4/111 (4%), aRR 10.1 [3.5-29.0]. Neurological impairment, neurosensory alterations or delays in motor acquisition are more common in infants with a congenital Zika infection at birth: 6/15 (40%) vs 5/96 (5%), aRR 6.7 [2.2-20.0]. Finally, infected children also have an increased risk of subspecialty referral for suspected neurodevelopmental delay by three years of life: 7/11 (64%) vs 7/51 (14%), aRR 4.4 [1.9-10.1]. Infected infants without structural brain anomalies also appear to have an increased risk, although to a lesser extent, of neurological abnormalities. It seems paramount to offer systematic testing for congenital ZIKV infection in cases of in utero exposure and adapt counseling based on these results.


Assuntos
Desenvolvimento Infantil , Malformações do Sistema Nervoso/epidemiologia , Complicações Infecciosas na Gravidez/virologia , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Infecção por Zika virus/complicações , Adolescente , Adulto , Pré-Escolar , Feminino , Guiana Francesa/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Idade Materna , Malformações do Sistema Nervoso/etiologia , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Efeitos Tardios da Exposição Pré-Natal/etiologia , Medição de Risco/estatística & dados numéricos , Adulto Jovem , Zika virus/isolamento & purificação , Infecção por Zika virus/congênito , Infecção por Zika virus/diagnóstico , Infecção por Zika virus/virologia
20.
BMC Pediatr ; 21(1): 261, 2021 06 05.
Artigo em Inglês | MEDLINE | ID: mdl-34090355

RESUMO

BACKGROUND: Neonatal hypoxic-ischemic encephalopathy (HIE) affects as many as 100,000 infants each year in China. Therapeutic hypothermia reduces HIE related mortality and long-term neurodevelopmental disabilities. National guidelines for HIE management were published a decade ago. This study aimed to investigate the current status of HIE diagnosis and treatment in China. METHOD: This prospective cross-sectional national survey used a questionnaire evaluating practices related to HIE management. Descriptive statistics and Chi-square or Fisher's exact test were used, and a p-value of < 0.05 was considered significant. RESULTS: The 273 hospitals that completed the survey were located in 31 of the 34 provincial districts in China. Eighty-eight percent of the hospitals were Level III hospitals, and 74% treated 10 or more HIE cases annually. Awareness rates of the national guidelines for HIE diagnosis, HIE treatment, and therapeutic hypothermia protocol were 85, 63, and 78%, respectively. Neurological manifestations and blood gas were used as HIE diagnostic criteria by 96% (263/273) and 68% (186/273) of the hospitals, respectively. Therapeutic hypothermia was used in 54% (147/273) of hospitals. The percentage of general hospitals that implemented therapeutic hypothermia (43%, 71/165) was significantly lower than that in maternity and infant hospitals (67%, 49/73) (χ2 = 11.752, p = 0.001) and children's hospitals (77%, 27/35) (χ2 = 13.446, p < 0.001). Reasons for not providing therapeutic hypothermia included reduction of HIE cases in recent years (39%), high cost of cooling devices and treatment (31%), lack of training (26%), and safety concerns (4%). Among the hospitals that provided therapeutic hypothermia, 27% (39/147) were in full compliance with the recommended protocol. Eighty-one percent (222/273) of the hospitals treated HIE infants with putative neuroprotective agents alone or in combination with cooling. Ninety-one percent of the hospitals had long-term neurodevelopmental follow-up programs for infants with HIE. CONCLUSIONS: There is significant heterogeneity in HIE diagnosis and treatment in China. Therapeutic hypothermia has not become a standard of care for neonatal HIE nationwide. Unproven agents are widely used for HIE treatment. Nationwide standardization of HIE management and dissemination of therapeutic hypothermia represent the opportunities to reduce mortality and improve long-term neurodevelopmental outcomes of children affected by HIE.


Assuntos
Hipotermia Induzida , Hipóxia-Isquemia Encefálica , Criança , China/epidemiologia , Estudos Transversais , Feminino , Humanos , Hipóxia-Isquemia Encefálica/diagnóstico , Hipóxia-Isquemia Encefálica/terapia , Lactente , Recém-Nascido , Gravidez , Estudos Prospectivos
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