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1.
Nurs Ethics ; : 9697330241246086, 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38626781

RESUMO

BACKGROUND: Nurses providing care to patients with end-of-life or terminal illnesses often encounter ethically challenging situations leading to moral distress. However, existing quantitative studies have examined moral distress using instruments that address general clinical situations rather than those specific to end-of-life care. Furthermore, qualitative studies have often been limited to participants from a single unit or those experiencing moral distress-induced circumstances. A comprehensive and integrated understanding of the overarching process of moral distress is vital to discern the unique circumstances surrounding end-of-life care and its consequential impacts. RESEARCH OBJECTIVES: To explore the moral distress experiences of nurses who are frequently involved in caring for patients with end-of-life or terminal illnesses and apply it to two existing theories: the model of moral distress and the ecological model. RESEARCH DESIGN: A qualitative descriptive approach was employed. PARTICIPANTS AND RESEARCH CONTEXT: Seven focus group interviews involving 30 nurses were performed. The subsequent transcriptions underwent rigorous content analysis. ETHICAL CONSIDERATIONS: We obtained Institutional Review Board approval from a university. Focus group interviews were conducted with nurses who agreed to participate and signed the consent form. FINDINGS: The moral distress-inducing factors and nurses' perceived impact of moral distress were identified and categorized based on moral distress theories and ecological models. A total of 15 categories and 30 subcategories across the following 4 domains were derived: (1) intrapersonal, (2) interpersonal, (3) organizational, and (4) structural factors. CONCLUSIONS: End-of-life-specific circumstances induced moral distress among nurses, with both negative and positive impacts identified. Effective organizational and policy support is essential to manage conflicts, form a healthy organizational culture, provide training, and prevent unnecessary expenses due to the negative consequences of moral distress.

2.
World J Pediatr ; 2024 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-38615088

RESUMO

BACKGROUND: Advancements in neonatal care have increased preterm infant survival but paradoxically raised intraventricular hemorrhage (IVH) rates. This study explores IVH prevalence and long-term outcomes of very low birth weight (VLBW) infants in Korea over a decade. METHODS: Using Korean National Health Insurance data (NHIS, 2010-2019), we identified 3372 VLBW infants with IVH among 4,129,808 live births. Health-related claims data, encompassing diagnostic codes, diagnostic test costs, and administered procedures were sourced from the NHIS database. The results of the developmental assessments  are categorized into four groups based on standard deviation (SD) scores. Neonatal characteristics and complications were compared among the groups. Logistic regression models were employed to identify significant changes in the incidence of complications and to calculate odds ratios with corresponding 95% confidence intervals for each risk factor associated with mortality and morbidity in IVH. Long-term growth and development were compared between the two groups (years 2010-2013 and 2014-2017). RESULTS: IVH prevalence was 12% in VLBW and 16% in extremely low birth weight (ELBW) infants. Over the past decade, IVH rates increased significantly in ELBW infants (P = 0.0113), while mortality decreased (P = 0.0225). Major improvements in certain neurodevelopmental outcomes and reductions in early morbidities have been observed among VLBW infants with IVH. Ten percent of the population received surgical treatments such as external ventricular drainage (EVD) or a ventriculoperitoneal (VP) shunt, with the choice of treatment methods remaining consistent over time. The IVH with surgical intervention group exhibited higher incidences of delayed development, cerebral palsy, seizure disorder, and growth failure (height, weight, and head circumference) up to 72 months of age (P < 0.0001). Surgical treatments were also significantly associated with abnormal developmental screening test results. CONCLUSIONS: The neurodevelopmental outcomes of infants with IVH, especially those subjected to surgical treatments, continue to be a matter of concern. It is imperative to prioritize specialized care for patients receiving surgical treatments and closely monitor their growth and development after discharge to improve developmental prognosis. Supplementary file2 (MP4 77987 kb).

3.
Diagnostics (Basel) ; 13(24)2023 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-38132211

RESUMO

Accurate prediction of postnatal growth failure (PGF) can be beneficial for early intervention and prevention. We aimed to develop a machine learning model to predict PGF at discharge among very low birth weight (VLBW) infants using extreme gradient boosting. A total of 729 VLBW infants, born between 2013 and 2017 in four hospitals, were included. PGF was defined as a decrease in z-score between birth and discharge that was greater than 1.28. Feature selection and addition were performed to improve the accuracy of prediction at four different time points, including 0, 7, 14, and 28 days after birth. A total of 12 features with high contribution at all time points by feature importance were decided upon, and good performance was shown as an area under the receiver operating characteristic curve (AUROC) of 0.78 at 7 days. After adding weight change to the 12 features-which included sex, gestational age, birth weight, small for gestational age, maternal hypertension, respiratory distress syndrome, duration of invasive ventilation, duration of non-invasive ventilation, patent ductus arteriosus, sepsis, use of parenteral nutrition, and reach at full enteral nutrition-the AUROC at 7 days after birth was shown as 0.84. Our prediction model for PGF performed well at early detection. Its potential clinical application as a supplemental tool could be helpful for reducing PGF and improving child health.

4.
Sci Rep ; 13(1): 23100, 2023 12 28.
Artigo em Inglês | MEDLINE | ID: mdl-38155236

RESUMO

Despite advances in obstetric care, hypoxic ischemic encephalopathy (HIE) remains a significant disease burden. We determined the national trends of HIE prevalence, therapeutic hypothermia (TH) use, mortality, and outcomes from 2012 to 2019. This study included term infants diagnosed with HIE between 2012 and 2019 from the National Health Insurance Service database. The prevalence of HIE was 2.4 per 1000 births without significant change during the period. TH was performed in approximately 6.7% of infants with HIE, and the annual variation ranged from 2.4 to 12.5%. The mortality among all term infants with HIE was 4.6%. The mortality rate among infants with HIE and TH significantly declined from 40 to 16.9% during the eight years. Infants with TH had higher mortality, increased use of inhaled nitric oxide, and more invasive ventilator use, indicating greater disease severity in the TH group. Infants with TH also showed significantly poorer outcomes, including delayed development, cerebral palsy, sensorineural hearing loss, and seizure, compared to infants without TH (p < 0.0001). With the increasing application of TH, mortality and developmental outcomes among infants with HIE have been improving in the past eight years in Korea. Further efforts to improve outcomes should be needed.


Assuntos
Paralisia Cerebral , Hipotermia Induzida , Hipóxia-Isquemia Encefálica , Lactente , Humanos , Hipóxia-Isquemia Encefálica/epidemiologia , Hipóxia-Isquemia Encefálica/terapia , Hipóxia-Isquemia Encefálica/diagnóstico , Paralisia Cerebral/terapia , Convulsões/terapia , Gravidade do Paciente
5.
Eur Radiol ; 33(10): 7340-7351, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37522898

RESUMO

OBJECTIVES: To investigate the predictability of synthetic relaxometry for neurodevelopmental outcomes in premature infants and to evaluate whether a combination of relaxation times with clinical variables or qualitative MRI abnormalities improves the predictive performance. METHODS: This retrospective study included 33 premature infants scanned with synthetic MRI near or at term equivalent age. Based on neurodevelopmental assessments at 18-24 months of corrected age, infants were classified into two groups (no/mild disability [n = 23] vs. moderate/severe disability [n = 10]). Clinical and MRI characteristics associated with moderate/severe disability were explored, and combined models incorporating independent predictors were established. Ultimately, the predictability of relaxation times, clinical variables, MRI findings, and a combination of the two were evaluated and compared. The models were internally validated using bootstrap resampling. RESULTS: Prolonged T1-frontal/parietal and T2-parietal periventricular white matter (PVWM), moderate-to-severe white matter abnormality, and bronchopulmonary dysplasia were significantly associated with moderate/severe disability. The overall predictive performance of each T1-frontal/-parietal PVWM model was comparable to that of individual MRI finding and clinical models (AUC = 0.71 and 0.76 vs. 0.73 vs. 0.83, respectively; p > 0.27). The combination of clinical variables and T1-parietal PVWM achieved an AUC of 0.94, sensitivity of 90%, and specificity of 91.3%, outperforming the clinical model alone (p = 0.049). The combination of MRI finding and T1-frontal PVWM yielded AUC of 0.86, marginally outperforming the MRI finding model (p = 0.09). Bootstrap resampling showed that the models were valid. CONCLUSIONS: It is feasible to predict adverse outcomes in premature infants by using early synthetic relaxometry. Combining relaxation time with clinical variables or MRI finding improved prediction. CLINICAL RELEVANCE STATEMENT: Synthetic relaxometry performed during the neonatal period may serve as a biomarker for predicting adverse neurodevelopmental outcomes in premature infants. KEY POINTS: • Synthetic relaxometry based on T1 relaxation time of parietal periventricular white matter showed acceptable performance in predicting adverse outcome with an AUC of 0.76 and an accuracy of 78.8%. • The combination of relaxation time with clinical variables and/or structural MRI abnormalities improved predictive performance of adverse outcomes. • Synthetic relaxometry performed during the neonatal period helps predict adverse neurodevelopmental outcome in premature infants.


Assuntos
Encéfalo , Recém-Nascido Prematuro , Recém-Nascido , Lactente , Humanos , Encéfalo/diagnóstico por imagem , Estudos Retrospectivos , Estudos de Viabilidade , Imageamento por Ressonância Magnética
6.
J Clin Virol ; 164: 105497, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37253299

RESUMO

BACKGROUND: Rotavirus group A (RVA) is a causative agent of acute gastroenteritis among young children worldwide, despite the global expansion of rotavirus vaccination. In Korea, although the prevalence of RVA has been reduced among young children owing to vaccination, nosocomial infections still occur among neonates. OBJECTIVES: The aim of this study was to investigate the molecular epidemiology of RVA strains associated with several neonatal outbreaks in Seoul from 2017 to 2020. STUDY DESIGN: Clinical and environmental samples were collected and screened for the presence of RVA using ELISA and PCR targeting VP6, respectively. RVA-positive strains were genotyped via RT-PCR and subsequent sequencing of VP4 and VP7 and were phylogenetically compared with RVA strains from other countries. RESULTS: During 2017-2020, a total of 15 RVA outbreaks occurred at neonatal facilities (six in hospital neonatal wards and nine in postpartum care centers) in Seoul, and only two RVA genotypes were detected: G4P[6] and G8P[6]. G8P[6] emerged in Seoul November 2018 and immediately became the predominant genotype among neonates, at least up to 2020. Phylogenetic analysis revealed that the G8P[6] genotype in this study was closely related to G8P[6] strains first identified in Korea in 2017, but differed from G8P[6] strains detected in Africa. CONCLUSIONS: A novel G8P[6] genotype of RVA strains has emerged and caused outbreaks among neonates in Seoul. Continued surveillance for circulating RVA genotypes is imperative to monitor genotype changes and their potential risks to public health.


Assuntos
Infecção Hospitalar , Surtos de Doenças , Epidemiologia Molecular , Filogenia , Infecções por Rotavirus , Rotavirus , Feminino , Humanos , Recém-Nascido , Fezes/virologia , Genótipo , Rotavirus/genética , Infecções por Rotavirus/epidemiologia , Infecções por Rotavirus/virologia , Seul/epidemiologia , Infecção Hospitalar/epidemiologia , Infecção Hospitalar/virologia , Proteínas do Capsídeo/genética , Microbiologia Ambiental , Masculino
7.
Clin Exp Emerg Med ; 9(4): 345-353, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36128798

RESUMO

OBJECTIVE: Falls are one of the most frequently occurring adverse events among hospitalized patients. The Morse Fall Scale, which has been widely used for fall risk assessment, has the two limitations of low specificity and difficulty in practical implementation. The aim of this study was to develop and validate an interpretable machine learning model for prediction of falls to be integrated in an electronic medical record (EMR) system. METHODS: This was a retrospective study involving a tertiary teaching hospital in Seoul, Korea. Based on the literature, 83 known predictors were grouped into seven categories. Interpretable fall event prediction models were developed using multiple machine learning models including gradient boosting and Shapley values. RESULTS: Overall, 191,778 cases with 272 fall events (0.1%) were included in the analysis. With the validation cohort of 2020, the area under the receiver operating curve (AUROC) of the gradient boosting model was 0.817 (95% confidence interval [CI], 0.720-0.904), better performance than random forest (AUROC, 0.801; 95% CI, 0.708-0.890), logistic regression (AUROC, 0.802; 95% CI, 0.721-0.878), artificial neural net (AUROC, 0.736; 95% CI, 0.650-0.821), and conventional Morse fall score (AUROC, 0.652; 95% CI, 0.570-0.715). The model's interpretability was enhanced at both the population and patient levels. The algorithm was later integrated into the current EMR system. CONCLUSION: We developed an interpretable machine learning prediction model for inpatient fall events using EMR integration formats.

9.
J Pediatr Orthop ; 42(8): 439-442, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-35818174

RESUMO

BACKGROUND: Preaxial or radial polydactyly is one of the most common hand congenital anomalies in newborns. Contemporary reconstruction methods include ligament reconstruction, excision of the polydactylous thumb, osteotomy, and other surgical techniques according to the type of polydactyly. The purpose of this study was to report mid-term to long-term reconstruction results for thumb (radial) polydactyly. METHODS: We retrospectively reviewed the medical records of patients who underwent reconstruction surgery for preaxial polydactyly. Clinical outcomes, including the range of motion (ROM), pain, and complications, were evaluated. We assessed the final radiographs of the reconstructed thumb to identify the potential development of arthritis or other remaining deformities. After excluding cases without a simple radiograph and cases with a short follow-up period of fewer than 5 years, 26 thumbs were included. The surgical technique followed including excision of polydactylout thumb was tailored to the type of polydactyly. If the nail size of the thumbs was similar, the Bilhaut-Cloquet method was preferred. RESULTS: The mean age of the patients at the surgery and final follow-up was 14.9 months (range: 8 to 30 mo) and 11.9 years (range: 5.8 to 19.3 y), respectively. The mean follow-up was 128.8 months years (range: 60 to 219 mo), and the mean ROM of the thumb was 32.7 and 57.5 degrees in the distal interphalangeal joint (DIP) and metacarpophalangeal (MP) joint, respectively. Ulnar or radial side instability was prominent in 7 patients in the involved joints (26.9%). One patient underwent interphalangeal (IP) fusion for extension lag with pain. The radiologic evaluation revealed that 2 patients developed radiographic evidence of IP joint arthritis (7.7%). Radial deviation of the MP or IP joint existed in 13 cases (range: 5 to 40 degrees) (50.0%), and ulnar deviation of the MP or IP joint existed in 2 cases (range: 19 to 20 degrees) (7.7%). CONCLUSIONS: In mid-term to long-term experience, sequelae such as joint instability, joint stiffness, and remaining deformity cannot be neglected. An unstable MP joint may result if the DIP joint remains stiff or has a lower ROM. LEVEL OF EVIDENCE: Level IV-therapeutic studies.


Assuntos
Artrite , Instabilidade Articular , Polidactilia , Pré-Escolar , Seguimentos , Humanos , Lactente , Recém-Nascido , Dor , Polidactilia/cirurgia , Amplitude de Movimento Articular , Estudos Retrospectivos , Polegar/anormalidades , Polegar/cirurgia
10.
Artigo em Inglês | MEDLINE | ID: mdl-35798304

RESUMO

Pheochromocytoma (PCC) occurs in 4% of pediatric neurofibromatosis type 1 (NF1) patients and is mostly characterized by epinephrine and norepinephrine secretion. Herein, we report the first case of a dopamine-secreting PCC in a 13-year-old patient with NF1, in whom a left adrenal mass was incidentally found on abdominal computed tomography (CT) during hypertension workup. Fractionated 24-h urine metanephrine excretion was normal but urine dopamine level was elevated. On 123I-metaiodobenzylguanidine (MIBG) single photon emission tomography/CT (SPECT/CT), focal MIBG uptake was observed. Our multidisciplinary team determined that surgery would be difficult to perform because the tumor was small and the symptoms were vague, with only increased dopamine level. After six months, the tumor increased in size on abdominal CT, with focal significant uptake of the lesion on 6-[18F]fluoro-L-3,4-dihydroxyphenylalanine (18F-FDOPA) PET/CT. Laparoscopic resection was performed, and the mass was histologically confirmed as PCC. Currently, the vital signs of the patient are stable, urine dopamine levels are normal, and there is no abnormal uptake of 18F-FDOPA PET/CT. This study reports a case of a rare dopamine-secreting PCC. When metanephrine is negative in patients at high risk of PCC, focused examination and multidisciplinary approach are needed.

11.
Children (Basel) ; 8(10)2021 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-34682161

RESUMO

We aimed to determine the incidence of acute kidney injury (AKI) and longitudinal changes in SCr levels and urinary biomarkers associated with AKI and aminoglycoside (AG) medication during the first week of life of late preterm infants. Urine biomarkers and SCr were measured in thirty late preterm infants on days one, two, five, and seven postnatal. Urine biomarkers included neutrophil gelatinase-associated lipocalin (NGAL), monocyte chemotactic protein-1 (MCP-1), epidermal growth factor (EGF), Tamm-Horsfall glycoprotein (THP), and liver fatty-acid-binding protein (L-FABP). Gestational age was positively correlated with SCr levels at birth, but inversely correlated with SCr levels at day five and day seven. Eighteen (60%) infants had stage 1 AKI, and twenty (67%) infants were treated with AGs. Infants with AKI had lower gestational age and lower birth weight than those without AKI. Urinary biomarkers adjusted according to uCr levels in infants with AKI were not statistically different from those in infants without AKI. There were no significant differences in incidence of AKI, and SCr levels during and after cessation of AG treatment. The uMCP-1/Cr ratio at days five and seven was higher in infants treated with AG than in non-treated infants.

12.
Nutrients ; 13(6)2021 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-34208333

RESUMO

We aimed to investigate the changes in vitamin D levels and factors associated with vitamin D deficiency (VDD) during the first year of life in Korean preterm infants. We enrolled 333 preterm infants who were born at Kyungpook National University Children's Hospital between March 2013 and December 2019. 25-hydroxyvitamin D (25-OHD) levels and medical records were collected at birth, 6 months, and 12 months of age. The mean gestational age was 33.4 ± 2.3 weeks and mean 25-OHD levels at birth were 18.2 ± 13.5 ng/mL. The incidence of VDD was 82.8%, 30.6%, and 27.0% at birth, 6 months, and 12 months, respectively. The incidence of severe VDD (25-OHD < 10 ng/mL) was 31.5%, 1.5%, and 0%, at birth, 6 months, and 12 months, respectively. Among infants with severe VDD, the deficiency persisted in 49.6% at 6 months, and 35.3% at 12 months. The strongest predictor of VDD during follow-up was 25-OHD concentration at birth. Vitamin D supplementation at 400 IU/day did not affect vitamin D levels during the first year of life. Therefore, it is important to prevent neonatal VDD through maternal vitamin D supplementation during pregnancy. Further research is needed to determine the optimal vitamin D supplementation dose for Korean preterm infants.


Assuntos
Doenças do Prematuro/epidemiologia , Deficiência de Vitamina D/epidemiologia , Vitamina D/análogos & derivados , Feminino , Idade Gestacional , Humanos , Incidência , Lactente , Recém-Nascido , Recém-Nascido Prematuro/sangue , Masculino , Fatores de Risco , Vitamina D/sangue , Vitaminas/sangue
13.
Yeungnam Univ J Med ; 38(3): 240-244, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33022903

RESUMO

Imperforate anus is an anomaly caused by a defect in the development of the hindgut during early pregnancy. It is a relatively common congenital malformation and is more common in males. Although there are cases of a solitary imperforate anus, the condition is more commonly found as a part of a wider spectrum of other congenital anomalies. Although urgent reconstructive anorectal surgery is not necessary, immediate evaluation is important and urgent decompressive surgery may be required. Moreover, as there are often other anomalies that can affect management, prenatal diagnosis can help in optimizing perinatal care and prepare parents through prenatal counseling. In the past, imperforate anus was diagnosed by prenatal ultrasonography based on indirect signs such as bowel dilatation or intraluminal calcified meconium. Currently, it is diagnosed by directly checking the perineum with prenatal ultrasonography. Despite advances in ultrasound technology, accurate prenatal diagnosis is impossible in most cases and imperforate anus is detected after birth. Here, we present two cases of imperforate anus in female fetuses that were not diagnosed prenatally.

14.
J Clin Med ; 9(12)2020 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-33352905

RESUMO

We aimed to investigate the correlation between vitamin D status in cord blood and fecal calprotectin concentrations in meconium, and also find their association with intestinal distress symptoms during the first two weeks of life. Two hundred and twenty-eight newborns were enrolled in the study who were delivered at Kyungpook National University Children's Hospital between July 2016 and August 2017. The first passed meconium samples were collected for fecal calprotectin analysis. Intestinal distress involved infants with necrotizing enterocolitis (NEC) and other feeding interruption signs. The median gestational age of the population was 37.0 (34.3-38.4) weeks, and the median birth weight was 2635 (2100-3268) g. The median fecal calprotectin levels in meconium were 134.1 (55.6-403.2) µg/g (range: 11.5-2000 µg/g) and the median 25-hydroxyvitamin D (25-OHD) concentrations in cord blood were 21.0 (15.5-28.8) ng/mL. Sixty infants (26.3%) had intestinal distress, including four patients (1.8%) diagnosed as having NEC. Higher fecal calprotectin concentrations (398.2 (131.8-900.2) µg/g vs. 105.6 (39.4-248.5) µg/g, p < 0.001) and lower 25-OHD levels (17.9 (12.8-22.1) ng/mL vs. 23.2 (17.2-33.0) ng/mL, p < 0.001) were found in infants with intestinal distress compared to infants without intestinal distress. The cut-off value was set at 359.8 µg/g with a sensitivity of 0.53 and a specificity of 0.82 for the development of intestinal distress in the first two weeks of life. Serum 25-OHD levels in cord blood were inversely correlated with fecal calprotectin concentrations in meconium.

15.
Front Microbiol ; 11: 2099, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33013766

RESUMO

The maternal vaginal microbiome is an important source for infant gut microbiome development. However, infants delivered by Cesarean section (CS) do not contact the maternal vaginal microbiome and this delivery method may perturb the early establishment and development of the gut microbiome. The aim of this study was to investigate the early gut microbiota of Korean newborns receiving the same postpartum care services for two weeks after birth by delivery mode using fecal samples collected at days 3, 7, and 14. Early gut microbiota development patterns were examined using 16S rRNA gene-based sequencing from 132 infants either born vaginally (VD, n = 64) or via Cesarean section (CS, n = 68). VD-born neonates showed increased alpha diversity in infant fecal samples collated at days 7 and 14 compared to those from day 3, while those of CS infants did not differ (p < 0.015). Bacterial structures of infants from both groups separated at day 7 (p < 0.001) and day 14 (p < 0.01). The bacterial structure of VD infants gradually changed over time (day 3 vs. day 7, p < 0.012; day 3 vs. day 14, p < 0.001). Day 14 samples of CS infants differed from day 3 and 7 samples (day 3 vs. day 14, p < 0.001). VD infant relative abundance of Bifidobacterium (days 7, 14), Bacteroides (days 7, 14), and Lachnospiraceae (day 7) significantly increased compared to CS infants, with a lower abundance of Enterobacteriaceae (found in all periods of the CS group) (LDA > 3.0). Relative abundances of Bifidobacterium, Lactobacillus, and Staphylococcus were significantly increased in both VD and CS groups at day 14 (LDA > 3.0). Predicted functional analysis showed that VD infants had overrepresented starch/sucrose, amino acid and nucleotide metabolism in gut microbiota with depleted lipopolysaccharide biosynthesis until day 14 compared to CS infants. This study confirmed that delivery mode is the major determinant of neonatal intestinal microbiome establishment and provides a profile of microbiota perturbations in CS infants. Our findings provide preliminary insight for establishing recovery methods to supply the specific microbes missing in CS infants.

16.
Ann Pediatr Endocrinol Metab ; 25(2): 97-103, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32615689

RESUMO

PURPOSE: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is characterized by adrenal insufficiency, ambiguous genitalia, maternal virilization during pregnancy, and skeletal dysplasia. In this study, we investigated the clinical, hormonal, and molecular characteristics of patients with POR deficiency in Korea. METHODS: This study included four patients with POR deficiency confirmed by biochemical and molecular analysis of POR. Clinical and biochemical findings were reviewed retrospectively. Mutation analysis of POR was performed by Sanger sequencing after polymerase chain reaction amplification of all coding exons and the exon-intron boundaries. RESULTS: All patients presented with adrenal insufficiency and ambiguous genitalia regardless of their genetic sex. Two patients harbored homozygous p.R457H mutations in POR and presented with adrenal insufficiency and genital ambiguity without skeletal phenotypes. The other two patients with compound heterozygous mutations of c.[1329_1330insC];[1370G>A] (p.[I444Hfs*6];[R457H]) manifested skeletal abnormalities, such as craniosynostosis and radiohumeral synostosis, suggesting Antley-Bixler syndrome. They also had multiple congenital anomalies involving heart, kidney, and hearing ability. All patients were treated with physiologic doses of oral hydrocortisone. CONCLUSION: We report the cases of 4 patients with POR deficiency identified by mutation analysis of POR. Although the study involved a small number of patients, the POR p.R457H mutation was the most common, suggesting founder effect in Korea. POR deficiency is rare and can be misdiagnosed as 21-hydroxylase or 17α-hydroxylase/17,20-lyase deficiency. Therefore, molecular analysis is critical for confirmatory diagnosis.

17.
18.
Korean J Pediatr ; 62(3): 102-107, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30360035

RESUMO

PURPOSE: This study compared the iron statuses of small for gestational age (SGA) and appropriate for gestational age (AGA) infants at birth. METHODS: The clinical data of 904 newborn infants admitted to the neonatal intensive care unit were reviewed. Blood samples were drawn from the infants within 24 hours after birth. Serum ferritin level was used as a marker of total iron status. RESULTS: In this study, 115 SGA (GA, 36.5±2.9 weeks; birth weight [BW], 1,975±594.5 g) and 717 AGA (GA, 35.1±3.5 weeks; BW, 2,420.3±768.7 g) infants were included. The SGA infants had higher hematocrit levels (50.6%±5.8% vs. 47.7%±5.7%, P<0.05) than the AGA infants. No difference in serum ferritin level (ng/mL) was found between the groups (mean [95% confidence interval]: SGA vs. AGA infants, 139.0 [70.0-237.0] vs. 141.0 [82.5-228.5]). After adjusting for gestational age, the SGA infants had lower ferritin levels (147.1 ng/mL [116.3-178.0 ng/mL] vs. 189.4 ng/mL [178.0-200.8 ng/ mL], P<0.05). Total body iron stores were also lower in the SGA infants than in the AGA infants (185.6 [153.4-211.7] vs 202.2 [168.7-241.9], P<0.05). CONCLUSION: The SGA infants had lower ferritin and total body iron stores than the AGA infants. The SGA infants affected by maternal hypertension who were born at late preterm had an additional risk of inadequate iron store. Iron deficiency should be monitored in these infants during follow-up.

19.
Korean J Pediatr ; 60(9): 296-301, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29042873

RESUMO

PURPOSE: The aim of this study was to evaluate whether infants with rhinovirus (RV) infection-induced wheezing and those with respiratory syncytial virus (RSV) infection-induced wheezing have different cytokine profiles in the acute stage. METHODS: Of the infants with lower respiratory tract infection (LRTI) between September 2011 and May 2012, 88 were confirmed using reverse transcription polymerase chain reaction and hospitalized. Systemic interferon-gamma (IFN-γ), interleukin (IL)-2, IL-12, IL-4, IL-5, IL-13, and Treg-type cytokine (IL-10) responses were examined with multiplex assay using acute phase serum samples. RESULTS: Of the 88 patients, 38 had an RV infection (RV group) and 50 had an RSV infection (RSV group). In the RV group, the IFN-γ and IL-10 concentrations were higher in the patients with than in the patients without wheezing (P=0.022 and P=0.007, respectively). In the RSV group, the differences in IFN-γ and IL-10 concentrations did not reach statistical significance between the patients with and the patients without wheezing (P=0.105 and P=0.965, respectively). The IFN-γ and IL-10 concentrations were not significantly different between the RV group with wheezing and the RSV group with wheezing (P=0.155 and P=0.801, respectively), in contrast to the significant difference between the RV group without wheezing and the RSV group without wheezing (P=0.019 and P=0.035, respectively). CONCLUSION: In comparison with RSV-induced LRTI, RV-induced LRTI combined with wheezing showed similar IFN-γ and IL-10 levels, which may have an important regulatory function.

20.
Pediatr Radiol ; 47(12): 1638-1647, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28638982

RESUMO

BACKGROUND: The clinical application of the multi-echo, multi-delay technique of synthetic magnetic resonance imaging (MRI) generates multiple sequences in a single acquisition but has mainly been used in adults. OBJECTIVE: To evaluate the image quality of synthetic brain MR in children compared with that of conventional images. MATERIALS AND METHODS: Twenty-nine children (median age: 6 years, range: 0-16 years) underwent synthetic and conventional imaging. Synthetic (T2-weighted, T1-weighted and fluid-attenuated inversion recovery [FLAIR]) images with settings matching those of the conventional images were generated. The overall image quality, gray/white matter differentiation, lesion conspicuity and image degradations were rated on a 5-point scale. The relative contrasts were assessed quantitatively and acquisition times for the two imaging techniques were compared. RESULTS: Synthetic images were inferior due to more pronounced image degradations; however, there were no significant differences for T1- and T2-weighted images in children <2 years old. The quality of T1- and T2-weighted images were within the diagnostically acceptable range. FLAIR images showed greatly reduced quality. Gray/white matter differentiation was comparable or better in synthetic T1- and T2-weighted images, but poorer in FLAIR images. There was no effect on lesion conspicuity. Synthetic images had equal or greater relative contrast. Acquisition time was approximately two-thirds of that for conventional sequences. CONCLUSION: Synthetic T1- and T2-weighted images were diagnostically acceptable, but synthetic FLAIR images were not. Lesion conspicuity and gray/white matter differentiation were comparable to conventional MRI.


Assuntos
Encéfalo/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Aumento da Imagem/métodos , Interpretação de Imagem Assistida por Computador/métodos , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos
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