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1.
Neuroimage ; 297: 120738, 2024 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-39009248

RESUMO

Ultrasound imaging stands as the predominant modality for neonatal health assessment, with recent advancements in ultrafast Doppler (µDoppler) technology offering significant promise in fields such as neonatal brain imaging. Combining µDoppler with high-frequency ultrasound (HF-µDoppler) presents a potential efficient avenue to enhance in vivo microvascular imaging in small animals, notably newborn rats, a crucial preclinical animal model for neonatal disease and development research. It is necessary to verify the imaging performance of HF-µDoppler in preclinical trials. This study investigates the microvascular imaging capabilities of HF-µDoppler using a 30 MHz high-frequency linear array probe in newborn rats. Results demonstrate the clarity of cerebral microvascular imaging in rats aged 1 to 7 postnatal days, extending to whole-body microvascular imaging, encompassing the central nervous system, including the brain and spinal cord. In conclusion, HF-µDoppler technology emerges as a reliable imaging tool, offering a new perspective for preclinical investigations into neonatal diseases and development.


Assuntos
Animais Recém-Nascidos , Encéfalo , Microvasos , Animais , Ratos , Microvasos/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Encéfalo/irrigação sanguínea , Ratos Sprague-Dawley , Ultrassonografia Doppler/métodos
2.
Clin Transplant ; 38(2): e15247, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38375911

RESUMO

BACKGROUND: The role of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in patients <3 years of age remains controversial. Data on haploidentical donor (HID) transplants in this age group is limited. PATIENTS AND METHODS: We retrospectively analyzed the prognosis of 97 patients with acute leukemia aged <3 years who underwent HID transplantation at our institute. RESULTS: With a median follow-up of 45 months, the 3-year disease-free survival (DFS), overall survival (OS), and 3-year cumulative incidence rate of treatment-related mortality were 69.3% (95% confidence interval (CI): 59.9%-78.7%), 74.2% (95% CI: 65.2%-83.2%), and 3.6% (95% CI: 0.9%-9.7%) in all 97 patients, respectively. The 3-year DFS and OS rate in patients diagnosed <1 year and patients diagnosed ≥1 year were comparable: 77.8% (95% CI: 62.2%-93.4%) versus 66.3% (95% CI: 55.0%-77.6%, p = .253) and 82.5% (95% CI: 66.3-98.7%) versus 72.8% (95% CI: 61.9%-83.7%, p = .153), respectively. At the last follow-up, 23 patients had died, and 20 had died of relapse. Multivariate analysis revealed that positive pre-HSCT flow cytometric minimal residual disease (hazard ratio 5.605, p = .000) and AML-M7 expression (hazard ratio 2.906, p = .014) were independent adverse prognostic variables for relapse. CONCLUSIONS: HID transplantation is potent and safe for infants and young patients with acute leukemia. Relapse is the primary cause of treatment failure.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Leucemia Mieloide Aguda , Humanos , Pré-Escolar , Estudos Retrospectivos , Transplante Homólogo , Leucemia Mieloide Aguda/terapia , Prognóstico , Doença Aguda , Doença Crônica , Recidiva
3.
BMC Pregnancy Childbirth ; 24(1): 101, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38302905

RESUMO

BACKGROUND: To analyze the genetic characteristics and long-term outcomes of fetuses with dysplasia of the corpus callosum (DCC) or partial agenesis of the corpus callosum (PACC). METHODS: A total of 42 fetuses with DCC (n = 36) or PACC (n = 6) were retrospectively analyzed from January 2016 to December 2022 at the Peking University First Hospital. The cohort was categorized into isolated (15/42, 36%) and nonisolated groups (27/42, 64%), and differences in the genetic abnormalities and long-term outcomes between the two groups were analyzed. DCC was subdivided into short CC, thin CC, and thick CC. The outcomes of the three different types of DCC were analyzed and discussed. RESULTS: (1) Thirty-nine of the 42 cases underwent CMA (chromosomal microarray analysis) and CMA + WES (whole exome sequencing), with 13/15 cases in isolated group and 26/27 cases in nonisolated group. Only pathogenic or likely pathogenic (P/LP) variants were considered, identifying P/LP variants in 2/13 cases in isolated group and 12/26 cases in nonisolated group. There was no significant difference between the two groups (χ² = 3.566, P = 0.05897). (2) In the isolated group, 8 cases were terminated, and 7 cases were delivered. Postnatal follow-up detected 1 case of gross motor development delay one year after birth; no obvious abnormalities were found in the other six cases. In the nonisolated group, 21 cases were terminated, and 6 cases were delivered. Postnatal follow-up detected 4 cases of children with different degrees of language, motor and intelligence abnormalities; 1 case died 10 days after birth. No obvious abnormalities were observed in one case. Six cases (86%, 6/7) in the isolated group showed normal development, compared with 1 case (17%, 1/6) in the nonisolated group, with a significant difference (χ² = 6.198, P = 0.01279). (3) In DCC, the delivery rates of short CCs (18 cases), thin CCs (13 cases), and thick CCs (5 cases) were 17% (3/18), 54% (7/13), and 20% (1/5), respectively, with good outcomes observed in 0% (0/3), 71% (5/7), and 0% (0/1), respectively. P/LP variants were found in 6/17 cases of short CC, 3/12 cases of thin CC, and 2/5 cases of thick CC. CONCLUSIONS: Fetuses with DCC or PACC combined with other structural abnormalities had a poor long-term prognosis compared with the isolated group. Patients with thin CCs had a higher probability of a good prognosis than those with short or thick CCs.


Assuntos
Agenesia do Corpo Caloso , Corpo Caloso , Ultrassonografia Pré-Natal , Gravidez , Criança , Feminino , Humanos , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Estudos Retrospectivos , Prognóstico , Feto , Diagnóstico Pré-Natal
4.
BMC Public Health ; 24(1): 236, 2024 01 20.
Artigo em Inglês | MEDLINE | ID: mdl-38243163

RESUMO

BACKGROUND: Although years have passed since the implementation of China's universal two-child policy, the effectiveness of this policy remains unclear. To address this knowledge gap, we, here, assessed the impact of the two-child policy on total live births, preterm births, and multiple live births. METHODS: Data identifying pregnancies resulting in at least one live birth between April 1 2013 and December 31 2018 were collected from the Hospital Quality Monitoring System database. Using an interrupted time-series analysis, we estimated immediate level changes and long-term trends in total, preterm (birth before 37 weeks' gestation), and multiple live births that had occurred after July 2016, when the universal two-child policy had taken effect. RESULTS: A total of 8,273,622 live births were reported during the study time frame. The number of live births (p = 0.277), preterm births (p = 0.052), and multiple births (p = 0.856) per month slightly increased immediately after July 2016, but these increases did not meet statistical significance. Further, all three outcomes showed a significant downward trend that lasted until the end of 2018 (p < 0.0001 for all). Among all live births, the percentage of preterm births remained stable (p = 0.101), while the percentage of multiple live births that were preterm significantly increased (trend change = 0.21% per month, 95% CI 0.14 to 0.28, p < 0.0001). The percentage of live multiple births among all live births significantly decreased (p for trend = 0.0039). CONCLUSIONS: Overall, our data reveal a transient baby boom, as well as an increase in the proportion of live multiple births that were preterm, after China's two-child policy took effect. The latter should be noted by healthcare professionals due to the high risk of complications and special medical care required by preterm babies.


Assuntos
Nascimento Prematuro , Gravidez , Recém-Nascido , Feminino , Humanos , Nascimento Prematuro/epidemiologia , Recém-Nascido Prematuro , Prole de Múltiplos Nascimentos , Políticas , China/epidemiologia
5.
BMC Pediatr ; 23(1): 260, 2023 05 24.
Artigo em Inglês | MEDLINE | ID: mdl-37226122

RESUMO

AIM: To assess the etiologies and adverse outcomes of infantile acquired hydrocephalus and predict prognosis. METHODS: A total of 129 infants diagnosed with acquired hydrocephalus were recruited from 2008 to 2021. Adverse outcomes included death and significant neurodevelopmental impairment which was defined as Bayley Scales of Infant and Toddler Development III score < 70, cerebral palsy, visual or hearing impairment, and epilepsy. Chi-squared was used to evaluate the prognostic factors of adverse outcomes. A receiver operating characteristic curve was calculated to determine the cutoff value. RESULTS: Of 113 patients with outcome data, 55 patients (48.7%) had adverse outcomes. Late surgical intervention time (13 days) and severe ventricular dilation were associated with adverse outcomes. The combination of surgical intervention time and cranial ultrasonography (cUS) indices was a better predictive marker compared with any of them (surgical intervention time, P = 0.05; cUS indices, P = 0.002). Post-hemorrhage (54/113, 48%), post-meningitis (28/113, 25%), and hydrocephalus arising from both hemorrhage and meningitis (17/113, 15%) accounted for a large proportion of the etiologies in our study. Hydrocephalus occurs secondary to post-hemorrhage and had a favorable outcome compared with other etiologies in both preterm and term groups. A significant difference in adverse outcomes between the inherited error of metabolism as a cause and other etiologies (P = 0.02). CONCLUSION: Late surgical treatment times and severe ventricular dilation can predict adverse outcomes in infants with acquired hydrocephalus. It is crucial to identify the causes of acquired hydrocephalus to predict the adverse outcomes. Research into measures of improving adverse outcomes following infantile acquired hydrocephalus is urgently necessary.


Assuntos
Paralisia Cerebral , Hidrocefalia , Lactente , Recém-Nascido , Humanos , Prognóstico , Hidrocefalia/etiologia , Duração da Cirurgia , Curva ROC
6.
J Ultrasound Med ; 42(12): 2767-2776, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37551842

RESUMO

OBJECTIVE: We aimed to investigate the progression of cortical development in Chinese population and to determine the rate of isolated asymmetric cortical development. We also explored the outcomes of these fetuses and determined whether cortical asymmetry represents normal individual physiological variation. METHODS: Our observational cohort study included 456 healthy singleton pregnant women who visited Peking University First Hospital between September 2020 and December 2021. We evaluated the progression and symmetry of the parieto-occipital sulcus, calcarine sulcus, and cingulate sulcus using a scoring system during routine fetal ultrasound examinations. The outcomes of the included fetuses after birth were assessed using the Ages and Stages Questionnaire, Third Edition (ASQ-3). RESULTS: The median gestational ages at which the parieto-occipital, calcarine, and cingulate sulci reached grade 1 were 22, 22, and 26 weeks, respectively. Among 456 included fetuses, 426 showed symmetric cortical development and 30 showed asymmetric cortical development during ultrasound examination. Fetuses with asymmetric cortical development underwent 'catch-up growth' and developed to the same grade in 2-6 weeks. All fetuses with symmetric or asymmetric cortical development had normal neurodevelopment after birth according to ASQ-3 assessment. CONCLUSION: The gestational age at which the parieto-occipital, calcarine, and cingulate sulci can be detected using ultrasound varies in different studies. Racial differences may be present in cortical development. Normal fetuses may physiologically have mildly asymmetric cortical development in the mesial area.


Assuntos
População do Leste Asiático , Feto , Gravidez , Feminino , Humanos , Estudos de Coortes , Idade Gestacional , Ultrassonografia Pré-Natal
7.
Eur J Clin Microbiol Infect Dis ; 41(1): 9-20, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34398346

RESUMO

The purpose of this study is to understand children's clinical characteristics with pertussis and analyze risk factors on critical pertussis patients. Demographic data from patients with pertussis at Children's Hospital affiliated to the Capital Institute of Pediatrics between March 2011 and December 2018 were collected. We retrospectively gathered more information with the positive exposure, vaccination, antibiotic usage before diagnosis, clinical manifestation, laboratory tests, therapy, and complications for hospitalized children. We divided the patients into severe and non-severe groups, comparing related factors and clinical characteristics among each group. In particular, we summarize the clinical features of the severe patients before aggravation. A total of 967 pertussis cases were diagnosed, of which 227 were hospitalized. The onset age younger than 3 months old accounted for the highest proportion, and 126 patients received hospitalization. For those patients, the incidence of post-tussive vomiting, paroxysmal cyanosis, post-tussive heart rate decrease, hypoxemia, severe pneumonia, and mechanical ventilation was significantly higher than that in the ≥ 3-month-old group (p < 0.05). Among 227 hospitalized patients, 54 suffered from severe pertussis. Risk factors for severe patients included early age of onset, pathogen exposure, and unvaccinated status. Cough paroxysms, post-tussive vomiting, paroxysmal cyanosis, facial flushing/cyanosis/fever during cough, increased WBC, and chest X-ray revealing pneumonia/consolidation/atelectasis were important indications of severe pertussis. Unvaccinated status was an independent risk factor for severe pertussis. The most vulnerable population was infants < 3 months old to pertussis, and may be on the severe end of the disease. Pediatricians must detect and treat severe cases promptly and recommend timely vaccination for all eligible children.


Assuntos
Coqueluche/diagnóstico , Coqueluche/epidemiologia , Adolescente , Pequim/epidemiologia , Bordetella pertussis/classificação , Bordetella pertussis/genética , Bordetella pertussis/isolamento & purificação , Criança , Pré-Escolar , Feminino , Hospitalização , Hospitais Pediátricos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Coqueluche/microbiologia , Coqueluche/terapia
8.
BMC Pregnancy Childbirth ; 22(1): 312, 2022 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-35413827

RESUMO

BACKGROUND: Neonatal hyperthyroidism is an extension of fetal disease. Most cases of neonatal hyperthyroidism are transient but may excessively harm multiple organ functions through the actions of maternal thyroid-stimulating hormone receptor antibodies on the neonatal thyroid gland. CASE PRESENTATION: The hyperthyroid mother underwent subtotal thyroidectomy before pregnancy and regularly took levothyroxine to avoid hypothyroidism, but still had a high-level thyroid-stimulating hormone receptor antibody (TRAb). The neonate suffered from hyperthyroidism due to the transplacental TRAb. After a regular medication schedule of an antithyroid drug, combined with a ß-blocker to control the ventricular rate, the infant gradually recovered, allowing normal motor and intellectual development. CONCLUSIONS: Maternal subtotal thyroidectomy cannot prevent the secretion of thyroid receptor antibodies, which may cause either hypothyroidism or hyperthyroidism. The balance between antithyroid drugs and levothyroxine is critical in clinical practice.


Assuntos
Doenças Fetais , Doença de Graves , Hipertireoidismo , Hipotireoidismo , Doenças do Recém-Nascido , Complicações na Gravidez , Antitireóideos/uso terapêutico , Feminino , Doença de Graves/tratamento farmacológico , Humanos , Hipertireoidismo/cirurgia , Hipotireoidismo/tratamento farmacológico , Hipotireoidismo/etiologia , Recém-Nascido , Mães , Gravidez , Complicações na Gravidez/tratamento farmacológico , Tireoidectomia/efeitos adversos , Tireotropina , Tiroxina/uso terapêutico
9.
Hum Brain Mapp ; 40(8): 2434-2448, 2019 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-30697881

RESUMO

Processing affective prosody, that is the emotional tone of a speaker, is fundamental to human communication and adaptive behaviors. Previous studies have mainly focused on adults and infants; thus the neural mechanisms underlying the processing of affective prosody in newborns remain unclear. Here, we used near-infrared spectroscopy to examine the ability of 0-to-4-day-old neonates to discriminate emotions conveyed by speech prosody in their maternal language and a foreign language. Happy, fearful, and angry prosodies enhanced neural activation in the right superior temporal gyrus relative to neutral prosody in the maternal but not the foreign language. Happy prosody elicited greater activation than negative prosody in the left superior frontal gyrus and the left angular gyrus, regions that have not been associated with affective prosody processing in infants or adults. These findings suggest that sensitivity to affective prosody is formed through prenatal exposure to vocal stimuli of the maternal language. Furthermore, the sensitive neural correlates appeared more distributed in neonates than infants, indicating a high-level of neural specialization between the neonatal stage and early infancy. Finally, neonates showed preferential neural responses to positive over negative prosody, which is contrary to the "negativity bias" phenomenon established in adult and infant studies.


Assuntos
Emoções/fisiologia , Neuroimagem Funcional , Lobo Parietal/fisiologia , Córtex Pré-Frontal/fisiologia , Percepção Social , Espectroscopia de Luz Próxima ao Infravermelho , Percepção da Fala/fisiologia , Feminino , Humanos , Recém-Nascido , Masculino , Lobo Parietal/diagnóstico por imagem , Córtex Pré-Frontal/diagnóstico por imagem
10.
Brain Behav Immun ; 52: 106-119, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26456693

RESUMO

Cerebral white matter injury is a leading cause of adverse neurodevelopmental outcome in prematurely born infants involving cognitive deficits in later life. Despite increasing knowledge about the pathophysiology of perinatal brain injury, therapeutic options are limited. In the adult demyelinating disease multiple sclerosis the sphingosine-1-phosphate (S1P) receptor modulating substance fingolimod (FTY720) has beneficial effects. Herein, we evaluated the neuroprotective potential of FTY720 in a neonatal model of oxygen-toxicity, which is associated with hypomyelination and impaired neuro-cognitive outcome. A single dose of FTY720 (1mg/kg) at the onset of neonatal hyperoxia (24h 80% oxygen on postnatal day 6) resulted in improvement of neuro-cognitive development persisting into adulthood. This was associated with reduced microstructural white matter abnormalities 4 months after the insult. In search of the underlying mechanisms potential non-classical (i.e. lymphocyte-independent) pathways were analysed shortly after the insult, comprising modulation of oxidative stress and local inflammatory responses as well as myelination, oligodendrocyte degeneration and maturation. Treatment with FTY720 reduced hyperoxia-induced oxidative stress, microglia activation and associated pro-inflammatory cytokine expression. In vivo and in vitro analyses further revealed that oxygen-induced hypomyelination is restored to control levels, which was accompanied by reduced oligodendrocyte degeneration and enhanced maturation. Furthermore, hyperoxia-induced elevation of S1P receptor 1 (S1P1) protein expression on in vitro cultured oligodendrocyte precursor cells was reduced by activated FTY720 and protection from degeneration is abrogated after selective S1P1 blockade. Finally, FTY720s' classical mode of action (i.e. retention of immune cells within peripheral lymphoid organs) was analysed demonstrating that FTY720 diminished circulating lymphocyte counts independent from hyperoxia. Cerebral immune cell counts remained unchanged by hyperoxia and by FTY720 treatment. Taken together, these results suggest that beneficial effects of FTY720 in neonatal oxygen-induced brain injury may be rather attributed to its anti-oxidative and anti-inflammatory capacity acting in concert with a direct protection of developing oligodendrocytes than to a modulation of peripheral lymphocyte trafficking. Thus, FTY720 might be a potential new therapeutic option for the treatment of neonatal brain injury through reduction of white matter damage.


Assuntos
Transtornos Cognitivos/prevenção & controle , Cloridrato de Fingolimode/uso terapêutico , Hiperóxia/tratamento farmacológico , Substância Branca/efeitos dos fármacos , Animais , Animais Recém-Nascidos , Encéfalo/metabolismo , Transtornos Cognitivos/metabolismo , Transtornos Cognitivos/patologia , Imagem de Difusão por Ressonância Magnética , Feminino , Hiperóxia/patologia , Lisofosfolipídeos/metabolismo , Masculino , Microglia/efeitos dos fármacos , Microglia/metabolismo , Microglia/patologia , Fibras Nervosas Mielinizadas/efeitos dos fármacos , Oligodendroglia/efeitos dos fármacos , Oligodendroglia/metabolismo , Oligodendroglia/patologia , Oxigênio/administração & dosagem , Gravidez , Distribuição Aleatória , Ratos , Ratos Wistar , Receptores de Lisoesfingolipídeo/antagonistas & inibidores , Receptores de Lisoesfingolipídeo/metabolismo , Esfingosina/análogos & derivados , Esfingosina/metabolismo , Substância Branca/metabolismo , Substância Branca/patologia
11.
Zhongguo Dang Dai Er Ke Za Zhi ; 16(7): 701-4, 2014 Jul.
Artigo em Zh | MEDLINE | ID: mdl-25008876

RESUMO

OBJECTIVE: To study the relationship between STXBP1 gene mutations and refractory seizures with unknown causes in newborns. METHODS: The coding region of STXBP1 gene was detected using direct Sanger sequencing in 11 newborns with refractory seizures of unknown causes. RESULTS: STXBP1 gene mutation was found in 1 out of 11 patients. It was a missense mutation: c.1439C>T (p.P480L). CONCLUSIONS: STXBP1 gene mutation can be found in neonatal refractory seizures of unknown causes, suggesting a new approach of further research of this disease.


Assuntos
Proteínas Munc18/genética , Mutação , Convulsões/genética , Humanos , Recém-Nascido
12.
BMJ Paediatr Open ; 8(1)2024 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-39053967

RESUMO

BACKGROUND: Bacterial meningitis (BM) poses a serious threat to infant health. We assessed cranial ultrasound (CUS) changes in infants with BM as possible predictors of the neurological sequelae of BM. METHODS: We retrospectively assigned 132 infants diagnosed with BM from 2007 to 2021. Neuroimaging characteristics and cerebral blood flow (CBF) profiles identified using CUS were analysed and compared between the groups during the acute and postacute phases of BM. RESULTS: Overall, 102 infants with CUS and outcome data were recruited. 37/102 (36.3%) infants with neurological developmental impairments comprised the group with sequelae. Abnormal CUS findings increased the risk of sequelae during the postacute phase compared with the acute phase of BM. Prolonged white matter hyperechogenicity was an independent risk factor for sequelae. The CBF profiles of the group with sequelae showed that anterior cerebral artery resistance and pulsatility indices decreased during the acute phase, whereas the mean flow velocity of the middle cerebral artery significantly increased during the postacute phase. Changes in the CBF profiles did not significantly differ in the group without sequelae. CONCLUSIONS: Serial CUS can facilitate the prognostic assessment of infants aged <90 days with BM. Prolonged white matter hyperechogenicity, brain volume loss and cerebral perfusion disorders contribute to the risk of sequelae.


Assuntos
Meningites Bacterianas , Humanos , Meningites Bacterianas/diagnóstico por imagem , Meningites Bacterianas/fisiopatologia , Estudos Retrospectivos , Masculino , Feminino , Lactente , Prognóstico , Recém-Nascido , Circulação Cerebrovascular/fisiologia , Ecoencefalografia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Ultrassonografia/métodos
13.
Beijing Da Xue Xue Bao Yi Xue Ban ; 45(2): 202-6, 2013 Apr 18.
Artigo em Zh | MEDLINE | ID: mdl-23591337

RESUMO

OBJECTIVE: To investigate the diagnostic value of clinical manifestations, pathologic findings of skin biopsies and genetic testing in the diagnosis of neonatal hereditary dystrophic epidermolysis bullosa. METHODS: Here we reported one case of hereditary dystrophic epidermolysis bullosa with neonatal onset, and explored the clinical and pathological features,as well as the genetic diagnosis,of the disease process. RESULTS: The neonate was born with large areas of skin damage and erosion, extending to the left ankle and foot, and was admitted to the hospital 10 hours after birth. Hemophysallis and blisters were found in her mouth, and during her hospital stay the patient developed multiple bullae, skin peeling and skin erosion at the compressed and friction areas of the body. Bacterial cultures from both the skin erosion and oral secretions were negative. Pathology of the skin showed a small amount of loose connective tissue visualized by light microscopy. Visualization with electron microscope revealed no basal layer in the majority of the skin, tonofilament scattered in the dermal tissue, and basement membrane with unclear anchoring fibril and thinner lamina densa in a portion of the region studied. Consequently,the diagnosis of dystrophic epidermolysis bullosa was made. COL7A1 gene tests were subsequently performed on the patient's family. Insertion of AGGG fragment was found at the 500th locus of exon 13 in the mother's COL7A1 gene. The patient's father had a G-to-A mutation at the splicing locus after exon 98. The neonate had complex heterozygous mutation in COL7A1 gene consistent with the father and mother's mutation, which led to the development of the disease. The parents,who were carriers of the disease-causing genes,both had a normal phenotype. CONCLUSION: Skin pathology was indicated for the diagnosis of clinically suspicious hereditary dystrophic epidermolysis bullosa. The microstructure visualized in the pathologic findings aided in making the preliminary classification, and further genetic testing was able to be performed according to the pathological classification. Genetic testing of the parents could greatly aid family planning in the future.


Assuntos
Colágeno Tipo VII/genética , Epidermólise Bolhosa Distrófica/genética , Mutação , Sequência de Bases , Epidermólise Bolhosa Distrófica/patologia , Feminino , Heterozigoto , Humanos , Recém-Nascido , Dados de Sequência Molecular , Pele/patologia , Pele/ultraestrutura
14.
Zhongguo Dang Dai Er Ke Za Zhi ; 15(4): 313-5, 2013 Apr.
Artigo em Zh | MEDLINE | ID: mdl-23607959

RESUMO

A case of combined methylmalonic aciduria and homocysteinemia presenting with hydrocephalus as an early manifestation was reported for its rarity to see and to discuss the relationship between metabolic diseases and hydrocephalus by literature review. The case was an infant with seizures and hydrocephalus as an early manifestation of the disease, combined with macrocyticanemia, development retardation and visual hearing function lesions. The EEG showed hypsarrhythmia and the MRI showed hydrocephalus. Plasma homocysteinemia level increased (143.06 umol/L) and urine methylmalonic aciduria was 1483 times beyond normal. Based on gene analysis results and increased methylmalonic aciduria and homocysteinemia levels, combined methylmalonic aciduria and homocysteinemia was confirmed, presenting CblC defect (gene mutations homozygous for c.609G>A). After treatment by venous injection of vitamin B12, oral folic acid and betaine, seizures were controlled and development was progressive with ventricle retraction. It was concluded that hydrocephalus can be the early presentation in children with combined methylmalonic aciduria and homocysteinemia. Doctors should carry out metabolic disease screening for patients with hydrocephalus, especially when the cause of hydrocephalus is uncertain.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/complicações , Hidrocefalia/etiologia , Hiper-Homocisteinemia/complicações , Humanos , Lactente , Masculino
15.
Pediatr Neurol ; 148: 111-117, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37703655

RESUMO

BACKGROUND: Neonatal stroke manifests atypically and can potentially result in significant neurological sequelae in affected infants. Studies on long-term neurodevelopmental outcomes and prognostic factors are limited. We aimed to assess the clinical characteristics, long-term outcomes, and prognostic factors of perinatal stroke. METHODS: Patients diagnosed with perinatal stroke were enrolled from 2009 to 2018. Clinical data including general information, clinical manifestations, and risk factors were collected and compared. Follow-up was performed for at least two years. Statistical analysis was performed using the chi-square test, t tests, and logistic regression analysis. RESULTS: Sixty-nine cases were identified with an incidence of one of 2049 live births (51 boys and 18 girls). Twenty-seven patients (39%) experienced perinatal ischemic stroke (PIS) and 42 (61%) perinatal hemorrhagic stroke (PHS). In 48 cases (69%) onset involved acute symptomatic stroke (21 ischemic strokes and 27 hemorrhagic strokes). Seizures within 12 to 72 hours (20 cases, 29%) were the most common presentations. Most (57%) perinatal arterial ischemic strokes focused on the left middle cerebral artery. About 43% of PHS was diagnosed with temporal lobe hemorrhage, and 40% of patients exhibited multiple lesions of cerebral parenchymal hemorrhage. There was no association between adverse prognosis after perinatal stroke and different risk factors. During follow-up, six patients (10%) were dead and 22 patients (35%) experienced adverse neurodevelopmental outcomes. CONCLUSIONS: More infants exhibited hemorrhagic stroke than ischemic stroke. Among infants with asymptomatic perinatal stroke, PHS was more common. The first symptom of perinatal stroke within 12 to 72 hours after birth is convulsions, with the left middle cerebral artery and the temporal lobe being the most common lesion sites for ischemic and hemorrhagic strokes, respectively. PIS was more likely to achieve adverse outcomes.

16.
Front Pediatr ; 10: 1035621, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36467493

RESUMO

We present an interesting report of a 5-month-old infant with epileptic spasms and developmental delay who presented with non-isolated ventriculomegaly in utero and whose brain magnetic resonance imaging revealed right ventricular choroid plexus papilloma (CPP). The epileptic spasms persisted even with the use of antiepileptic therapies but was apparently cured after the removal of a CPP.

17.
Neurophotonics ; 9(4): 045002, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36284541

RESUMO

Significance: Functional near-infrared spectroscopy (fNIRS) for resting-state neonatal brain function evaluation provides assistance for pediatricians in diagnosis and monitoring treatment outcomes. Artifact contamination is an important challenge in the application of fNIRS in the neonatal population. Aim: Our study aims to develop a correction algorithm that can effectively remove different types of artifacts from neonatal data. Approach: In the study, we estimate the recognition threshold based on the amplitude characteristics of the signal and artifacts. After artifact recognition, Spline and Gaussian replacements are used separately to correct the artifacts. Various correction method recovery effects on simulated artifact and actual neonatal data are compared using the Pearson correlation ( R ) and root mean square error (RMSE). Simulated data connectivity recovery is used to compare various method performances. Results: The neonatal resting-state data corrected by our method showed better agreement with results by visual recognition and correction, and significant improvements ( R = 0.732 ± 0.155 , RMSE = 0.536 ± 0.339 ; paired t -test, ** p < 0.01 ). Moreover, the method showed a higher degree of recovery of connectivity in simulated data. Conclusions: The proposed algorithm corrects artifacts such as baseline shifts, spikes, and serial disturbances in neonatal fNIRS data quickly and more effectively. It can be used for preprocessing in clinical applications of neonatal fNIRS brain function detection.

18.
Nat Hum Behav ; 6(8): 1169-1179, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35654965

RESUMO

Human neonates can discriminate phonemes, but the neural mechanism underlying this ability is poorly understood. Here we show that the neonatal brain can learn to discriminate natural vowels from backward vowels, a contrast unlikely to have been learnt in the womb. Using functional near-infrared spectroscopy, we examined the neuroplastic changes caused by 5 h of postnatal exposure to random sequences of natural and reversed (backward) vowels (T1), and again 2 h later (T2). Neonates in the experimental group were trained with the same stimuli as those used at T1 and T2. Compared with controls, infants in the experimental group showed shorter haemodynamic response latencies for forward vs backward vowels at T1, maximally over the inferior frontal region. At T2, neural activity differentially increased, maximally over superior temporal regions and the left inferior parietal region. Neonates thus exhibit ultra-fast tuning to natural phonemes in the first hours after birth.


Assuntos
Percepção da Fala , Encéfalo/fisiologia , Lobo Frontal , Humanos , Lactente , Recém-Nascido , Aprendizagem , Lobo Parietal/diagnóstico por imagem , Percepção da Fala/fisiologia
19.
Front Pediatr ; 10: 905089, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35844753

RESUMO

This study reports a case of hepatoblastoma with onset at 30-weeks' gestation and rapid growth rate. The postnatal enhanced CT confirmed an intrahepatic mass with a size of 8.5 cm × 6.6 cm and a clear boundary accompanied by uneven enhancement, displacement, and narrow lumen of the hepatic vein due to compression. The alpha-fetoprotein (AFP) at birth was 1,002,632 ng/ml (normal level 48,406 [±34,718] ng/ml). A diagnosis of congenital hepatoblastoma was established based on the imaging and laboratory outcomes. The infant received chemotherapy of Cisplatin-5 fluorouracil-Vincristine (C5V) on the fourth day after birth. After four courses of C5V, a complete tumor resection was performed, and the postoperative pathology was consistent with mixed epithelial and mesenchymal hepatoblastoma. Four more courses of C5V and one course of C5VD (C5V plus doxorubicin) followed the surgery. Infectious diarrhea and acute kidney injury (stage I) occurred during chemotherapy, which recovered after anti-infection and symptomatic treatment. The patient is currently 2 years old and still in complete remission. In this case, the onset of hepatoblastoma was early, and the tumor grew rapidly, resulting in an obvious compression effect. Chemotherapy was started early after birth, and the curative effect was satisfactory, suggesting that the hepatoblastoma based on clinical diagnosis with rapid tumor progression and severe dysfunction of surrounding organs caused by compression should undergo chemotherapy as soon as possible if a pathological diagnosis cannot be obtained temporarily, which also plays an important role in improving the complete resection rate of intraoperative tumor and reducing the recurrence rate of postoperative tumor.

20.
J Matern Fetal Neonatal Med ; 35(25): 6691-6698, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33944669

RESUMO

OBJECTIVE: To determine the differences in outcomes between mild and moderate isolated ventriculomegaly (IVM). METHODS: We conducted a prospective cohort study on 94 fetuses with IVM and evaluated the neurodevelopmental outcomes at 12 months of age using the ASQ-3 and BSID-I neurodevelopmental assessment tools. Progression of VM was defined as an increase in the width of the ventricular by at least 3 mm during sequential ultrasound monitoring. The population was divided into two groups according to ventricular width: mild (10-12 mm) and moderate (12.1-15 mm), which were further evaluated for VM progression in utero separately. RESULTS: Neurodevelopmental assessments at 12 months were the main form of evaluations. Neurodevelopmental impairment (NDI) was defined as a mental development index (MDI) or psychomotor development index (PDI) < 85. There were no significant differences in NDI values between the mild and moderate groups (p = .155). Compared with the non-in utero progression group (7.6%), the rate of NDI was significantly higher (p = .004) in the group with progression (33.3%). Using linear regression and correlation, no negative correlation was found between the maximum value of atrial diameter (AD) in utero and the PDI (r = -0.021, p = .914) or MDI (r = -0.073, p = .703) score. However, the maximum change in the AD in utero was negatively correlated with both PDI (r = -0.460, p = .011) and MDI (r=-0.422, p = .020) scores. CONCLUSION: There were likely no differences in neurodevelopmental outcomes between mild and moderate IVM. In fetuses with mild to moderate VM, intrauterine progression may be a poor prognostic factor for neurodevelopmental outcomes.


Assuntos
Hidrocefalia , Malformações do Sistema Nervoso , Transtornos do Neurodesenvolvimento , Humanos , Estudos Prospectivos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/epidemiologia , Feto , Hiperplasia , Transtornos do Neurodesenvolvimento/diagnóstico por imagem , Transtornos do Neurodesenvolvimento/epidemiologia
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