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1.
Pediatr Res ; 2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39215196

RESUMEN

BACKGROUND: We aimed to evaluate the trajectory of skin barrier properties in full-term newborns during the first four days after birth. METHODS: Based on the MKNFOAD cohort (NCT02889081), transepidermal water loss (TEWL), stratum corneum hydration (SCH), skin pH, and sebum content at five anatomical sites (cheek, forehead, volar forearm, abdomen, and dorsal lower leg) were examined once within 96 h after birth in 384 full-term infants. Multivariable linear regression analysis was performed to assess variations in these skin barrier parameters with age adjusted for gestational age, neonate's sex, parents' allergy history, delivery mode, amniotic fluid characteristics, and birth weight. The regression coefficient (ß) and 95% confidence interval were reported. RESULTS: We analyzed a total of 384 neonates including 198 (51.6%) boys. TEWL values remained stable and showed no significant association with age (days). pH values exhibited a declining trend with age (p for trend <0.001). Both SCH values and sebum content grew with age (p for trend <0.001). CONCLUSION: During the first four days after birth, the skin TEWL remained stable, pH decreased, and the SCH and sebum content increased over time. These findings provide insights into the neonatal skin physiological development at the beginning of life. IMPACT: From birth to 96 h, TEWL was stable, pH showed a steep decline, SCH and sebum content increased. This study provides the first evidence of skin adaptation in the newborn due to changes in utero to after birth in the first 4 days of life in an Asian population. These findings will provide a new theoretical basis for neonatal skin physiology and clinical strategies for guiding newborn skin care.

2.
Pediatr Allergy Immunol ; 34(11): e14045, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38010004

RESUMEN

BACKGROUND: Trajectories of stratum corneum (SC) lipid subclasses and their associations with infant atopic dermatitis (AD) are unclear. This study aimed to quantify the trajectories of 15 SC subclasses and carbon chain lengths and their associations with AD within 12 months. METHODS: In total, 213 newborns were enrolled at birth with nonlesional skin samples collected from the inner forearm at birth, 42 days, 3, 6, and 12 months, respectively. Lesional skin samples were collected from 120 AD patients at clinic with the disease onset within the first year of life. Mass spectrometry was applied to assess relative contents of 12 ceramide (CER), three free fatty acid (FFA) subclasses, and average carbon chain length (CCL). AD incident within 1 year old was diagnosed by dermatologists according to UK criteria. RESULTS: Sixty-four (30.0%) cases of ADs occurred in the cohort. All SC lipid subclasses and CCLs, but EOP varied significantly during the first year. AD infants showed lower NP but higher NS, NH, AP, hydroxy FFA, and CCL of FFAs compared with nonaffected infants. After normalization by age, the differences remained and were more pronounced in lesional skin of clinical AD infants compared with non-ADs. NS, NH, and CCL of FFAs in lesional skin of AD infants showed positive and significant correlations with the levels of transepidermal water loss at 3 month; some evidence supports a negative correlation for NP. CONCLUSIONS: We provide an overview of developmental trajectories of 15 CER and FFA subclasses across the first year of healthy infants and a link between the imbalance of some subclasses with the development of AD.


Asunto(s)
Dermatitis Atópica , Lactante , Humanos , Recién Nacido , Estudios Prospectivos , Epidermis/química , Piel , Ácidos Grasos no Esterificados/análisis , Ceramidas/análisis , Ceramidas/química , Carbono/análisis
3.
Skin Res Technol ; 29(4): e13310, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37113082

RESUMEN

BACKGROUND/OBJECTIVES: The most frequent benign vascular tumor in children is infantile hemangioma (IH). For severe IHs, propranolol has become the first-line Treatment. Despite the fact that several studies have comprehensive therapy regimens, including the best time to start Treatment, dosage, visit frequency, and treatment duration, there is still controversy about the best time to start and stop propranolol medication. METHODS: Between January 2016 and February 2019, dermatologists experienced hemangioma treatment and recommended propranolol treatment for 232 IHs. A total of 90 patients completed the treatment process after undergoing a color Doppler ultrasound test. RESULTS: Propranolol uniquely affects each IH. Ninety patients were divided into two groups in this study: entire regression (n = 40) and partial regression (n = 50). The entire regression group's initial treatment period (4.3 ± 2.97 months) was substantially shorter than the partial regression group's (5.2 ± 4.57 months) (p < 0.05). Between the entire regression group (23.4 ± 12.8 months) and the partial regression group (24.5 ± 16.6 months), there was no significant difference in time to reduce propranolol. The partial regression group (32.9 ± 25.3month) had a lengthier treatment course than the entire regression group (23.4 ± 13.7 months) (p < 0.05). The partial regression group (22%), like the entire regression group, had a higher recurrence rate (5%). The overall proportion of hemangiomas on the face (particularly periocular hemangioma) in the regression group was greater than in the control group. CONCLUSION: The entire regression group's initial treatment time was significantly shorter than the partial regression group's. As a result, as soon as a hemangioma is discovered, it should be treated. To determine the appropriate time to reduce propranolol, we must evaluate the patient's age and the percentage of tumor regression. Periocular hemangioma may have a better prognosis than other types. Given the small number of patients in our study, we will need to do more research in the future to confirm our findings.


Asunto(s)
Hemangioma , Neoplasias Cutáneas , Niño , Humanos , Lactante , Propranolol/uso terapéutico , Propranolol/efectos adversos , Resultado del Tratamiento , Hemangioma/diagnóstico por imagen , Hemangioma/tratamiento farmacológico , Administración Oral , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias Cutáneas/tratamiento farmacológico
4.
Pediatr Res ; 92(2): 424-429, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-34650198

RESUMEN

BACKGROUND: Propranolol, a non-selective blocker of the ß-adrenoceptor (AR), is a first-line treatment for infantile hemangioma (IH). Mast cells have been implicated in the pathophysiology of propranolol-treated hemangioma. However, the function of mast cells remains unclear. METHODS: HMC-1s (Human mast cell line) having been treated with propranolol for 24 h were centrifuged, washed with PBS twice, and maintained in cell culture medium for another 24 h. The supernatants with propranolol which were named as propranolol-treated HMC-1s supernatants were obtained. The expression of cytokines and mediators was examined among HMC-1s dealt with propranolol. HemECs (hemangioma endothelial cells) were co-cultured with propranolol-treated HMC-1s supernatants, and their proliferation and apoptosis were investigated. The autophagic-related protein was examined in HemECs using immunoblot. RESULTS: In propranolol-treated HMC-1s, the expressions of ADRB1 (ß1-AR) and ADRB2 (ß2-AR) were reduced by 70% and 60%, respectively, and that of cytokines and mediators were reduced. The proliferation was decreased, but apoptosis and autophagy were induced in HemECs treated with propranolol-treated HMC-1s supernatants. However, propranolol can work well in shRNA-ADRB1 or shRNA-ADRB2 transfected HMC-1s. CONCLUSIONS: Propranolol inhibit the proliferation of HemECs and promote their apoptosis and autophagy through acting on both ß1 and ß2 adrenoceptor in mast cell. IMPACT: Treated with propranolol, ß1, and ß2 adrenoceptor on human mast cell expression was reduced significantly. After hemangioma endothelial cell treated with the supernatants from propranolol-treated human mast cell, its proliferation was decreased, but apoptosis and autophagy were significantly induced. Propranolol can work well in shRNA-ADRB1 or shRNA-ADRB2 transfected HMC-1s. Mast cells may have a role in the action of propranolol in infantile hemangioma through both ß1 and ß2 adrenoceptors to inhibit the angiogenic capacity of hemangioma endothelial cells.


Asunto(s)
Hemangioma Capilar , Hemangioma , Proliferación Celular , Citocinas/metabolismo , Células Endoteliales/metabolismo , Hemangioma/tratamiento farmacológico , Hemangioma/metabolismo , Hemangioma Capilar/tratamiento farmacológico , Hemangioma Capilar/metabolismo , Humanos , Mastocitos/metabolismo , Propranolol/farmacología , ARN Interferente Pequeño/metabolismo
5.
Pediatr Allergy Immunol ; 32(8): 1637-1645, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34165218

RESUMEN

BACKGROUND: Maternal vitamin D status during pregnancy has been linked with the risk of atopic dermatitis (AD) in children, while the results were inconsistent. The objective of this study was to assess the potential association. METHODS: Serum 25-hydroxyvitamin D (25(OH)D) levels were measured in pregnant women from the birth cohort MKFOAD. Infant AD was diagnosed according to Williams' criteria. Multivariate logistic regression model was used to examine the association of maternal serum 25(OH)D levels in the first, second, and third trimester of gestation with the risk of infant AD at first year of age. RESULTS: In total, 121 (26.5%) of 456 infants developed AD prior to 1 year of age. In general, higher maternal serum 25(OH)D levels throughout pregnancy were associated with increased risks of AD in infants prior to 1 year of age in multivariate logistic regression models, with borderline statistical significance in the first (per ln unit increase: adjusted OR = 1.93, 95% CI: 0.96, 3.88) and second (per ln unit increase: adjusted OR = 1.72, 95% CI: 0.93, 3.19) trimester. Multivariate logistic regression models using categorical variables of maternal 25(OH)D levels by tertiles showed similar results: Infants born to mothers with serum 25(OH)D levels in the highest tertile had higher risk of AD than those with 25(OH)D in the lowest tertile. CONCLUSIONS: The present study found some evidence supporting that higher maternal 25(OH)D levels during pregnancy increased the risk of infant AD. However, the clinical implication of the findings should be limited for those with blood levels over the recommendations.


Asunto(s)
Dermatitis Atópica , Deficiencia de Vitamina D , Cohorte de Nacimiento , Niño , Estudios de Cohortes , Dermatitis Atópica/epidemiología , Femenino , Humanos , Lactante , Embarazo , Estudios Prospectivos , Vitamina D/análogos & derivados , Deficiencia de Vitamina D/epidemiología
6.
Pediatr Allergy Immunol ; 32(1): 137-145, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-32663346

RESUMEN

BACKGROUND: Maternal folate status is linked with the risk of allergic disorders including atopic dermatitis (AD) in children, but findings remain inconclusive. We aim to assess the relationship between maternal folate status in early gestation and early-onset infant AD, based on a prospective mother-child cohort study. METHODS: Pregnant women were recruited at 12-14 weeks of gestation. Red blood cell folate (RBC folate) and serum folate concentrations were examined at enrollment. Periconceptional folic acid supplementation was investigated through a self-administered questionnaire. The primary outcome was AD incidence before 6 months of age, diagnosed according to Williams' criteria. Multivariate logistic regression was used to evaluate associations of maternal folate status with infant AD by adjusting parental and child covariates. RESULTS: In total, 107 (23.4%) of 458 infants developed AD before 6 months, with more male infants affected (P = .002). Higher maternal RBC folate levels (per 100 ng/mL) were associated with an increased risk of AD (adjusted odds ratio [aOR] 1.16, 95% confidence interval [CI] 1.04-1.31). An RBC folate level ≥620 ng/mL was associated with increased infant AD by 91% (aOR 1.91, 95% CI 1.09-3.36). However, associations were not observed for maternal serum folate at early gestation or periconceptional folic acid supplement intakes. CONCLUSIONS: We provide the first evidence that higher maternal RBC folate concentrations during early gestation are associated with increased early-onset infant AD. Our findings support the importance of maintaining appropriate folate levels during the periconceptional period to reduce the risk of AD in infants.


Asunto(s)
Dermatitis Atópica , Ácido Fólico , Estudios de Cohortes , Dermatitis Atópica/epidemiología , Suplementos Dietéticos , Femenino , Humanos , Lactante , Masculino , Embarazo , Estudios Prospectivos
7.
Dermatol Ther ; 33(2): e13153, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-31705602

RESUMEN

In order to investigate the effect of daily emollient treatment on infantile atopic dermatitis (AD) during the maintenance period, a total of 309 children younger than 2 years with moderate AD (155 and 154 in the treatment and control groups, respectively) were enrolled in this multicenter, randomized, parallel controlled clinical trial. Subjects were topically treated with desonide cream and emollients in Prinsepia utilis Royle for 2-4 weeks before entering the maintenance period and then differentially treated with either emollients for treatment or none for control. The cumulative maintenance rate, time to flare and improvement of eczema area and severity index (EASI) and infant's dermatitis quality of life index (IDQOL) were evaluated. Results showed that the cumulative maintenance rate of the treatment group (60.5%, 95% CI 50.0-69.4%) was significantly higher than that of the control group (23.5%, 95% CI 15.2-33.0%) (p < .001). The median time to flare in the treatment group was 90 days (interquartile range, IQR 28-90), which was significantly longer than that in the control group (28 days [IQR 18-67]) (p < .001). At Week 4 in the maintenance period, the EASI and IDQOL scores of the treatment group were lower than those of the control group. In conclusion, the application of emollients during the maintenance period of infantile AD can significantly reduce the risk of AD flares, prolong the time to flare and improve the clinical symptoms.


Asunto(s)
Dermatitis Atópica , Eccema , Niño , Dermatitis Atópica/diagnóstico , Dermatitis Atópica/tratamiento farmacológico , Eccema/tratamiento farmacológico , Emolientes/uso terapéutico , Humanos , Lactante , Calidad de Vida , Índice de Severidad de la Enfermedad , Resultado del Tratamiento
8.
Int J Dermatol ; 61(9): 1131-1136, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35325476

RESUMEN

BACKGROUND: Multiple factors contribute to the pathogenesis of childhood vitiligo. The characteristics in a different population under modified environmental factors need further reevaluation. The present study aimed to reevaluate the clinical and laboratory features in consequent children vitiligo patients. MATERIALS AND METHODS: We retrospectively reviewed consequent children vitiligo patients who visited Children's Hospital of Fudan University (National Children's Medical Center of China). The prevalence rate of thyroid dysfunction, circulating autoantibodies, serum IgE, and associated factors were analyzed. RESULTS: A total of 244 consequent vitiligo patients were included, of which 20 children had personal autoimmune history. Two hundred and nineteen of the 244 patients took a thyroid function test, and the abnormal rate was only 3.7% (8/219). The elevated IgE rate was 31.7% (52/157), the antinuclear antibody (ANA) positive rate was 9.8% (12/123), and the extractable nuclear antigens (ENA) positive rate was 4.4% (4/91), respectively. The elevated IgE was significantly associated with atopic disease history and male gender. Of note, personal autoimmune history showed a significant inverse association with elevated IgE. CONCLUSIONS: Thyroid dysfunction rate was low among the consequent children vitiligo patients. Personal autoimmune history was inversely associated with elevated IgE. Various clinical characteristics and pathogenesis might contribute to different long-term outcomes of vitiligo.


Asunto(s)
Enfermedades Autoinmunes , Enfermedades de la Tiroides , Vitíligo , Autoanticuerpos , Enfermedades Autoinmunes/complicaciones , Autoinmunidad , Niño , Humanos , Inmunoglobulina E , Masculino , Estudios Retrospectivos , Enfermedades de la Tiroides/complicaciones , Vitíligo/complicaciones
9.
J Pediatr Surg ; 57(7): 1274-1280, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35428493

RESUMEN

BACKGROUND: Rapamycin has been recommended to treat Kaposiform hemangioendothelioma (KHE) with Kasabach-Merritt phenomenon (KMP), but the underlying mechanism of the clinical effect has not been established. Therefore, we determined rapamycin cytotoxicity on KHE cells in vitro and the underlying mechanism. METHODS: KHE primary cells were derived from a tumor specimen and treated with rapamycin. Immunofluorescence was applied to identify the cells. Cell viability was measured using the Cell Counting Kit-8 (CCK-8) assay. Cell cycle and apoptosis were assessed using flow cytometry (FCM). Western blots (WB) were performed to determine phosphorylation of mammalian target of rapamycin (mTOR), p70 S6 kinase (S6K1), and eukaryotic translation initiation factor 4E-binding protein 1 (4E-BP1), as well light chain 3 (LC3) expression. RESULTS: Rapamycin inhibited the growth of KHE primary cells in a dose- and time-dependent manner. Cell cycle progression was arrested in the G0/G1 phase and apoptosis was induced. WB results showed that LC3-II/I expression was significantly elevated in KHE primary cells treated with rapamycin, while the level of p-mTOR, p-S6K1, and p-4E-BP1 expression was reduced. LC3 fluorescent spots were increased in the rapamycin treatment group. CONCLUSIONS: Rapamycin inhibited KHE primary cell proliferation, induced apoptosis and autophagy, and blocked the mTOR signaling pathway.


Asunto(s)
Hemangioendotelioma , Síndrome de Kasabach-Merritt , Sarcoma de Kaposi , Apoptosis , Autofagia , Hemangioendotelioma/tratamiento farmacológico , Humanos , Fosforilación , Sarcoma de Kaposi/tratamiento farmacológico , Sirolimus/farmacología , Sirolimus/uso terapéutico , Serina-Treonina Quinasas TOR/metabolismo
10.
Lancet Infect Dis ; 22(3): e93-e100, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34838200

RESUMEN

Cutaneous infection by Balamuthia mandrillaris is a rare condition that is sometimes complicated by life-threatening CNS involvement. It often evades timely diagnosis due to its rarity and non-specific clinical manifestations. Patients can be either immunocompetent or immunocompromised. It is probably transmitted via inhalation or inoculation through broken skin, and then spreads to the brain and other organs through haematogenous spread. It is important for clinicians to be aware of this disease because rapid diagnosis and subsequent therapy has, in some cases, been associated with survival. In this Grand Round, we report the case of a 7-year-old boy who presented with large, chronic plaques on his face. Several biopsies showed non-specific granulomatous inflammation. The patient deteriorated rapidly and died within 1 month of displaying abnormal symptoms in the CNS. Immunohistochemical staining of skin tissue identified B mandrillaris as the infectious agent. The diagnosis was confirmed with PCR, which detected B mandrillaris DNA in formalin-fixed skin tissue sections. B mandrillaris infection should be considered in the differential diagnosis of patients with chronic granulomatous lesions. We also reviewed the epidemiology, B mandrillaris in nature and in the laboratory, clinical manifestations, histopathology, diagnosis, and treatment of infection.


Asunto(s)
Amebiasis , Balamuthia mandrillaris , Amebiasis/diagnóstico , Amebiasis/tratamiento farmacológico , Amebiasis/patología , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Niño , Cara/patología , Granuloma , Humanos , Masculino
11.
Front Public Health ; 10: 971115, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36172203

RESUMEN

Objective: This study aimed to assess Chinese public pandemic fatigue and potential influencing factors using an appropriate tool and provide suggestions to relieve this fatigue. Methods: This study used a stratified sampling method by age and region and conducted a cross-sectional questionnaire survey of citizens in Xi'an, China, from January to February 2022. A total of 1500 participants completed the questionnaire, which collected data on demographics, health status, coronavirus disease 2019 (COVID-19) stressors, pandemic fatigue, COVID-19 fear, COVID-19 anxiety, personal resiliency, social support, community resilience, and knowledge, attitude, and practice toward COVID-19. Ultimately, 1354 valid questionnaires were collected, with a response rate of 90.0%. A binary logistic regression model was used to examine associations between pandemic fatigue and various factors. Result: Nearly half of the participants reported pandemic fatigue, the major manifestation of which was "being sick of hearing about COVID-19" (3.353 ± 1.954). The logistic regression model indicated that COVID-19 fear (OR = 2.392, 95% CI = 1.804-3.172), sex (OR = 1.377, 95% CI = 1.077-1.761), the pandemic's impact on employment (OR = 1.161, 95% CI = 1.016-1.327), and COVID-19 anxiety (OR = 1.030, 95% CI = 1.010-1.051) were positively associated with pandemic fatigue. Conversely, COVID-19 knowledge (OR = 0.894, 95% CI = 0.837-0.956), COVID-19 attitude (OR = 0.866, 95% CI = 0.827-0.907), COVID-19 practice (OR = 0.943, 95% CI = 0.914-0.972), community resiliency (OR = 0.978, 95% CI = 0.958-0.999), and health status (OR = 0.982, 95% CI = 0.971-0.992) were negatively associated with pandemic fatigue. Conclusion: The prevalence of pandemic fatigue among the Chinese public was prominent. COVID-19 fear and COVID-19 attitude were the strongest risk factors and protective factors, respectively. These results indicated that the government should carefully utilize multi-channel promotion of anti-pandemic policies and knowledge.


Asunto(s)
COVID-19 , Fatiga , COVID-19/epidemiología , China/epidemiología , Estudios Transversales , Fatiga/epidemiología , Humanos , Prevalencia
12.
Clin Transl Allergy ; 11(5): e12043, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34262694

RESUMEN

BACKGROUND: Skin barrier functions develop after birth and may be related to skin disorders in infants. We aimed to assess associations between dynamic trends of four skin barrier functional parameters in early life with infant atopic dermatitis (AD). METHODS: Based on the prospective cohort MKNFOAD (NCT02889081), we examined transepidermal water loss (TEWL), stratum corneum hydration (SCH), skin pH, and sebum content at five anatomical sites (cheek, forehead, forearm, abdomen, and lower leg) in 418 term infants at birth, 42 days, and 6 months. Trend differences by sex and association with AD at age 1 year were tested using variance analyses. Associations of the parameters with AD risk were tested using discrete time survival analysis, adjusting extensive covariates including parental history of allergy, infant's sex, birth weight (kg), and delivery mode. Odds ratios (ORs) and 95% confidence interval (CIs) were reported. RESULTS: Overall TEWL and SCH appeared trends of increase while skin surface pH and sebum content showed trends of decrease within the first six postnatal months. Sex differences were significant for sebum content only (p < 0.001). After adjustment for parental and children covariates, cheek TEWL at birth (OR = 1.26, 95% CI 1.00-1.57, p = 0.045) and 42 days (OR = 1.52, 95% CI 1.17-1.97, p = 0.002) were significantly associated with increased AD risk. Associations were not observed between SCH, skin pH, and sebum content at birth or 42 days with AD. CONCLUSIONS: Skin barrier functions of Chinese term infants varied nonlinearly after birth. Higher postnatal TEWL levels in early life indicate higher risk of early-onset AD.

13.
Orphanet J Rare Dis ; 16(1): 509, 2021 12 14.
Artículo en Inglés | MEDLINE | ID: mdl-34906154

RESUMEN

BACKGROUND: Fabry disease (FD) remains poorly recognized, especially in children in China. Considering the diversity and nonspecific clinical manifestations accompanying with life-threatening aspect of this disease, methods to improve effective screening and management of the suspects are needed. This study aims to explore how it can be done effectively from a multidisciplinary perspective for children with FD at a tertiary children's hospital in China. METHODS: A multidisciplinary team (MDT) of pediatric FD experts was launched at Children's Hospital of Fudan University. Children with high-risk characteristics were referred by the MDT screening team using the dried blood spot (DBS) triple-test (α-galactosidase A, globotriaosylsphingosine, GLA gene). For newborns who were undergoing genetic testing in the hospital, the GLA gene was listed as a routine analysis gene. Evaluation, family screening, and genetic counselling were implemented after screening by the MDT management team. RESULTS: Before the establishment of the MDT, no case was diagnosed with FD in the hospital. However, twelve months following the MDT program's implementation, thirty-five children with high-risk profiles were referred for screening by DBS triple-test, with a yield of diagnosis of 14.3% (5/35). These 5 diagnosed children were referred due to a high-risk profile of pain accompanied by dermatological angiokeratoma and hypohidrosis (n = 2), pain accompanied by abnormal liver function (n = 1), pain only (n = 1), and unexplained renal tubular dysfunction (n = 1). Two neonates were detected early with GLA mutations in the hospital, with a yield of detection of 0.14% (2/1420). Furthermore, another 3 children diagnosed with FD were referred from other hospitals. Family screening of these 10 diagnosed children indicated that 9 boys inherited it from their mothers and 1 girl inherited it from her father. Four of them started to receive enzyme replacement therapy. CONCLUSION: Screening and management of children with FD is effective based on a defined screening protocol and a multidisciplinary approach. We should pay more attention to the high-risk profiles of pain, angiokeratoma, decreased sweating, and unexplained chronic kidney disease in children.


Asunto(s)
Enfermedad de Fabry , Insuficiencia Renal Crónica , Niño , China , Enfermedad de Fabry/complicaciones , Enfermedad de Fabry/diagnóstico , Enfermedad de Fabry/terapia , Femenino , Hospitales , Humanos , Recién Nacido , Masculino , alfa-Galactosidasa/genética , alfa-Galactosidasa/uso terapéutico
14.
Eur J Clin Nutr ; 74(11): 1585-1593, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32242139

RESUMEN

OBJECTIVE: To explore the relationship between maternal folate levels during pregnancy and children's neuropsychological development at 2 years of age. METHODS: In the birth cohort MKFOAD, maternal serum folate concentrations at 12-14, 22-26, and 34-36 weeks of gestation were measured, as well as red blood cell (RBC) folate at 12-14 weeks. Neurodevelopment of 2-year-old children was assessed by Gesell Development Scale (GDS), which contained subscales of gross motor, fine motor, language, adaptive behavior, and social behavior. Linear regression models were applied to investigate the association of maternal folate levels with children's developmental quotients (DQs). RESULTS: One hundred and eighty singleton children participated the GDS assessment, of whom 97 (53.9%) were boys. Median RBC folate concentration was 1002.8 (IQR = 577.6) nmol L-1 in early pregnancy and median serum folate concentrations were, respectively, 33.9 (IQR = 9.2) nmol L-1, 26.3 (IQR = 14.3) nmol L-1, and 26.7 (IQR = 18.9) nmol L-1. Maternal serum folate concentration in late pregnancy was significantly associated with children's language development, where language DQ increases by 3.1 (95% CI 0.6, 5.5) for every 10 nmol L-1 increment of serum folate concentration. And maternal serum folate in early pregnancy was significantly associated with children's fine motor development, with 2.0 (95% CI 0.1, 4.0) DQ decrease for 10 nmol L-1 increase of serum folate. CONCLUSIONS: Maternal serum folate in late pregnancy was significantly associated with children's language development at age 2, which supports the importance of remaining folic acid supplementation across the entire gestation. However, maternal serum folate in early pregnancy was also inversely associated with children's fine motor development.


Asunto(s)
Ácido Fólico , Terapia Nutricional , Preescolar , Femenino , Humanos , Masculino , Embarazo
16.
Asian Pac J Trop Med ; 7(11): 913-7, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25441994

RESUMEN

OBJECTIVE: To explore the effect of bacilli Galmette-Gurin (BCG)-polysaccharide nuceic acid on atopic dermatitis in mice and its mechanism. METHOD: Forty NC/Nga mice were selected and randomly divided into Group A (model group), Group B (dexamethasone treatment group), Group C (BCG polysaccharide nucleic acid treatment group) and Group D (control group) with 10 mice in each group. Atopic dermatitis model were constructed by applying 2, 4-dinitrochlorobenzene on the skin of the mice. Mice in Group D were treated with acetone solution (100 µL) on the foot pad and abdomen after hair removal at the age of 7 weeks, then on ear skin at the age of 8-13 weeks. For mice in A, B and C groups, 100 µL of acetone solution containing 2, 4-dinitrochlorobenzene was applied to the foot pad and the abdomen at the age of 7 weeks, then on ear skins at the age of 8 to 13 weeks. At the age of 7-13 weeks, mice in Group A and Group D were treated with 100 µL saline (i.p.); mice were given dexamethasone (0.1 mL/kg, i.p.) every other day for 7 weeks in Group B; mice were treated with BCG polysaccharide nucleic acid (0.5 mg/kg, i.p.) every other day for 7 weeks in Group C. The ear thickness was measured every week and the scratching frequency was recorded 1 times for 10 min a week. The mice were sacrificed after the last administration of drugs. IgE, IL-4, IL-10, IL-12 and IFN-γ in the plasma were detected using ELISA, and RT-PCR method was employed to detect the concentrations of IL-4, IL-10, IL-12 and IFN-γ proteins. After HE staining, the lesion degree of inflammation in ear tissue was observed microscopically. RESULTS: The ear thickness and scratching frequency of Group A were significantly higher than those in group B, C and D (P<0.05), and there was no significant difference between Group B and C (P>0.05); the concentrations of IgE, IL-4 and IL-10 in the plasma and the expression of IL-4, IL-10 mRNA in the spleen tissues of Group A, B and C were all significantly higher than those of Group D (P<0.05); the concentrations of plasma IL-12 and IFN-γ, and spleen protein expression of IL-12 and IFN-γ in Group C mice were significantly higher than those of Group A (P<0.05). Histological observation showed obvious ear tissue exudation, erythema, swelling, desquamation of skin, and scabbing in Group A. Histopathology of the skin lesion also showed hyperkeratosis, focal-parakeratosis, stratum spinosum hypertrophy, mild sponge-like edema, a large number of lymphocytes along with plasma cell infiltration in dermis, angiectasis and hyperemia in Group A, while degree of ear skin lesion in Group B and D mice was significantly lighter than that of Group A. CONCLUSIONS: BCG polysaccharide nucleic acid can significantly reduce the serum IgE concentrations, increase the expression of IL-12, IFN-γ protein, correct the imbalance of Thl/Th2 in atopic dermatitis mice, and has obvious inhibitory effect on atopic dermatitis in NC/Nga mice.

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