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BACKGROUND: After the global epidemic of coronavirus disease 2019 (COVID-19), lifestyle changes to curb the spread of COVID-19 (e.g., wearing a mask, hand washing, and social distancing) have also affected the outbreak of other infectious diseases. However, few studies have been conducted on whether the incidence of gastrointestinal infections has changed over the past year with COVID-19. In this study, we examined how the incidence of gastrointestinal infections has changed since COVID-19 outbreak through open data. METHODS: We summarized the data on the several viruses and bacteria that cause gastrointestinal infections from the open data of the Korea Disease Control and Prevention Agency for 3 years from March 2018 to February 2021 (from Spring 2018 to Winter 2020). Moreover, we confirmed three most common legal gastrointestinal infectious pathogens from March 2016. RESULTS: From March 2020, when the COVID-19 epidemic was in full swing and social distancing and personal hygiene management were heavily emphasized, the incidence of infection from each virus was drastically decreased. The reduction rates compared to the averages of the last 2 years were as follows: total viruses 31.9%, norovirus 40.2%, group A rotavirus 31.8%, enteric adenovirus 13.4%, astrovirus 7.0%, and sapovirus 12.2%. Among bacterial pathogens, the infection rates of Campylobacter and Clostridium perfringens did not decrease but rather increased in some periods when compared to the average of the last two years. The incidence of nontyphoidal Salmonella, Staphylococcus aureus, or enteropathogenic Escherichia coli somewhat decreased but not significantly compared to the previous two years. CONCLUSION: The incidence of infection from gastrointestinal viruses, which are mainly caused by the fecal-to-oral route and require direct contact among people, was significantly reduced, whereas the incidence of bacterial pathogens, which have food-mediated transmission as the main cause of infection, did not decrease significantly.
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Infecciones Bacterianas/epidemiología , COVID-19/epidemiología , Enfermedades Gastrointestinales/epidemiología , SARS-CoV-2 , Virosis/epidemiología , Humanos , Incidencia , República de Corea/epidemiologíaRESUMEN
BACKGROUND: Endoscopy is used for diagnosing and treating various digestive diseases in children as well as in adults. However, in pediatric patients, it is recommended that sufficient sedation should be ensured before conducting endoscopy, since insufficient sedation may cause serious complications. However, in Korea, no studies have yet described the types of sedation drugs, effects of sedation, and efficiency of endoscopy with respect to the sedation instructor. Thus, we investigated the effectiveness of sedative procedures performed by anesthesiologists. METHODS: We retrospectively reviewed the medical records of patients aged < 18 years who underwent endoscopy during March 2014-July 2019. Data of sedation instructors, sedation drugs and their doses, complications, and the recovery after sedation were evaluated. RESULTS: Of 257 patients, 217 underwent esophagogastroduodenoscopy (EGD) and 40 underwent colonoscopies. Before EGD, 29 patients (13.4%) underwent sedation by the pediatric endoscopist and 188 (86.6%) were sedated by the anesthesiologist. The anesthesiologist performed the sedation for all 40 patients who underwent colonoscopy. Endoscopic examinations performed by the anesthesiologist were relatively more time-consuming (401.0 ± 135.1 seconds vs. 274.9 ± 106.1 seconds, P < 0.001). We observed that in patients who underwent EGD, there was a difference in the dose of midazolam administered (P = 0.000). When comparing EGD and colonoscopy in patients undergoing sedation by the anesthesiologist, there were no significant differences in the doses of midazolam and ketamine, but the dose of propofol increased for colonoscopy (2.50 ± 0.95 mg/kg vs. 4.71 ± 1.66 mg/kg, P = 0.000). The cognitive recovery time according to drug dose was associated with propofol only in EGD with a shorter endoscopy time. The longer cognitive recovery time in colonoscopy and the discharge time of EGD and colonoscopies were not associated with propofol use. CONCLUSION: When sedation is performed by an anesthesiologist, various drugs are used with sufficient doses and complications are reduced, but the discharge time does not change. For performing pediatric endoscopy in Korea, anesthesiologists should be considered for inducing anesthesia.
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Anestesiólogos/psicología , Hipnóticos y Sedantes/administración & dosificación , Adolescente , Periodo de Recuperación de la Anestesia , Niño , Endoscopía del Sistema Digestivo , Femenino , Gastritis/patología , Humanos , Vasculitis por IgA/patología , Ketamina/administración & dosificación , Masculino , Midazolam/administración & dosificación , Pautas de la Práctica en Medicina , Propofol/administración & dosificación , República de Corea , Estudios RetrospectivosRESUMEN
Hemophagocytic lymphohistiocytosis (HLH) is a rare disease resulting in clinical and biochemical manifestations of extreme inflammation. Myelodysplastic syndrome (MDS) represents a heterogenous group of clonal hematopoietic disorders. The development of MDS is common in children with trisomy of chromosome 8. Here, we report a fatal case of 8-year-old girl who was admitted to the emergency department with status epilepticus, and later diagnosed with HLH associated with MDS and trisomy of chromosome 8. We believe this is the first reported case of HLH associated with MDS and trisomy 8 in a pediatric patient.
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Linfohistiocitosis Hemofagocítica/genética , Síndromes Mielodisplásicos/genética , Trisomía/genética , Niño , Cromosomas Humanos Par 8/genética , Resultado Fatal , Femenino , HumanosRESUMEN
BACKGROUND: Intussusception is a gastrointestinal condition in which early treatment is critical. Although its epidemiology and comorbidities have been studied, few studies have included the entire pediatric population of a country. Therefore, we aimed to analyze the epidemiologic features of pediatric intussusception patients and identify comorbidities associated with intussusception in South Korea, using the public health database. METHODS: We analyzed the data of children below 18 years of age, from the national database of South Korea, who were diagnosed with intussusception and managed such as air reduction or surgical methods from 2008 to 2016. Patients were categorized into six groups based on the comorbid diseases. Patients with structural lesion in gastrointestinal tract were divided diagnosis or diagnosis code. RESULTS: The number of patients diagnosed with intussusception were 25,023 (16,024 males, 64.0%). Of them, the highest percentage was patients aged between 2 and 36 months (20,703; 82.7%). The incidence per 100,000 individuals aged up to 2 years was 196.7. The number of males were 16,024 (64.0%) and were almost twice the number of 8999 (36.0%) female patients. The maximum number of cases (n = 2517; 10.1%) were seen in September, followed by July (n = 2469; 9.9%). In February, the number of cases was lowest at 1448 (5.8%) patients (P < 0.001). The number of patients with structural lesions of the gastrointestinal tract that could lead to intussusception was 1207 (4.8%), while patients with acute gastrointestinal infectious disease were 4541 (18.1%). Among the structural lesions of the gastrointestinal tract that could be the leading cause of intussusception, lymphadenopathy was the most common, seen in 462 (56.6%) patients and an appendix-related condition was seen in 260 (31.9%) patients. Infectious diseases were more common in the younger children, while systemic diseases were more common in the older. CONCLUSION: We confirmed that pediatric intussusception in South Korea shows a seasonal tendency, which is age-dependent and is associated with an exposure to infectious agents. Some infectious pathogens and underlying diseases might play an important role in the pathophysiology of intussusception.
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Intususcepción/epidemiología , Adolescente , Distribución por Edad , Niño , Preescolar , Comorbilidad , Femenino , Enfermedades Gastrointestinales/complicaciones , Humanos , Incidencia , Lactante , Recién Nacido , Intususcepción/etiología , Linfadenitis/complicaciones , Masculino , República de Corea/epidemiología , Estaciones del Año , Distribución por SexoRESUMEN
Haemophagocytic lymphohistiocytosis (HLH) is a rare disease with a sepsis-like progression that leads to multiple organ dysfunction syndrome, especially in preterm infants. We present herein a case of HLH in a premature infant presenting with disseminated intravascular coagulopathy (DIC) and liver failure. A male infant, with weight 810g and delivered at the gestational age of 25 weeks and 2 days, was misdiagnosed with tyrosinaemia for several weeks. He presented with anaemia, thrombocytopaenia, persistent DIC, and elevated liver enzymes despite continuous transfusion and broad-spectrum antibiotics. A bone marrow puncture biopsy revealed haemophagocytosis, leading to HLH diagnosis. It is important for paediatricians to consider the possibility of HLH when liver function test results are abnormal in such patients.
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Recien Nacido Prematuro , Linfohistiocitosis Hemofagocítica , Anemia , Bilirrubina/sangre , Resultado Fatal , Humanos , Recién Nacido , Masculino , TrombocitopeniaRESUMEN
BACKGROUND: Hepatitis B virus (HBV) infection is the most common cause of liver disease in endemic areas such as South Korea. After HBV vaccination, hepatitis B surface antibody (HBsAb) titers gradually decrease. Trends in HBsAb titers have not been evaluated among children in South Korea over the past decade. METHODS: We screened 6155 patients (aged 7 months to 17 years) who underwent HBV antigen/antibody testing at Chung-Ang University Hospital from May 2012 to April 2015. Titer criteria were defined as follows: positive, titer ≥100 IU/L; weakly positive, titer 10-99 IU/L; and negative, titer <10 IU/L. We also compared titers before and 1 month after a single booster vaccination. RESULTS: Of the 5655 patients included, 3016 were male and 5 (0.09%) tested positive for HBV surface antigen. A marked reduction in antibody titer was observed until 4 years of age. Thereafter, the titers showed fluctuating decreases. HBsAb titers reached their lowest levels by 14 years of age. After 7 years of age, 50% of patients tested negative for HBsAb. Simple linear analysis showed that the titer reached levels of <10 IU/L and zero at 12.9 and 13.4 years of age, respectively. 1 month after a single booster vaccination was administered to those who were HBsAb-negative (n = 72), 69 children (96%) had developed antibodies while 3 (4%) remained HBsAb-negative. CONCLUSIONS: In conclusion, the continuous reduction in HBsAb titers over time and in each age group was confirmed. The titer level was shown significant decline until age 4. More than half of the sample had negative titers after age 7 years. After booster vaccination, most of child significantly increase titer level.
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Anticuerpos contra la Hepatitis B/sangre , Antígenos de Superficie de la Hepatitis B/inmunología , Vacunas contra Hepatitis B/inmunología , Hepatitis B/prevención & control , Adolescente , Biomarcadores/sangre , Niño , Preescolar , Femenino , Estudios de Seguimiento , Hepatitis B/diagnóstico , Hepatitis B/epidemiología , Hepatitis B/inmunología , Humanos , Lactante , Masculino , República de Corea/epidemiología , Estudios Retrospectivos , Estudios SeroepidemiológicosRESUMEN
Adequate organ growth is an important aspect of growth evaluation in children. Renal size is an important indicator of adequate renal growth; computed tomography (CT) can closely estimate actual kidney size. However, insufficient data are available on normal renal size as measured by CT. This study aimed to evaluate the relationships of anthropometric indices with renal length and volume measured by CT in Korean pediatric patients. Renal length and volume were measured using CT images in 272 pediatric patients (age < 18 years) without renal disease. Data for anthropometric indices-including height, weight, and body surface area (BSA)-were obtained using medical records. Using the equation for an ellipsoid, renal volume was calculated in cubic centimeters. Height showed greatest correlation with renal length on stepwise multiple linear regression analysis; BSA showed the strongest significant correlation with renal volume. The mean renal size for each age group and height group was determined; it showed a tendency to increase with age and height. This is the first Korean study to report the relationship between body indices and renal size measured by CT. These results can serve as normative standards for assessing adequate renal growth.
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Enfermedades Renales/patología , Riñón/anatomía & histología , Adolescente , Superficie Corporal , Niño , Preescolar , Femenino , Humanos , Lactante , Riñón/diagnóstico por imagen , Enfermedades Renales/diagnóstico por imagen , Modelos Lineales , Masculino , Tamaño de los Órganos , Valores de Referencia , Tomografía Computarizada por Rayos XRESUMEN
Cardiac myxoma is the most common primary tumor of the heart. It is a rare cause of acute ischemic stroke and commonly not detected until after the stroke. There is no current guideline for the treatment of cardiac myxoma stroke and only a few cases of mechanical thrombectomy have been reported. We present a case of cardiac myxoma stroke in a 4-year-old boy treated with a stent-retrieval device and review the literature describing the safety and efficacy of mechanical thrombectomy in cardiac myxoma stroke. We also describe imaging features of the myxoma clot on susceptibility weighted images.
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Neoplasias Cardíacas/cirugía , Mixoma/cirugía , Trombectomía/métodos , Preescolar , Neoplasias Cardíacas/diagnóstico por imagen , Humanos , Masculino , Mixoma/diagnóstico por imagen , Stents/efectos adversos , Trombectomía/instrumentaciónRESUMEN
We report a case of Henoch-Schonlein purpura (HSP) presenting without typical skin lesion; atypical symptoms initially appeared following influenza infection. A 4-year-old girl with influenza presented with epigastric pain and vomiting. On physical examination, there was epigastric tenderness, but no other signs, such as skin rash. On the second day, she vomited blood 10 times. Ultrasonography indicated focal bowel wall thickening in the right upper quadrant. Esophagogastroduodenoscopy showed oedematous and purpuric mucosa in the gastric pylorus and duodenum. Steroid therapy was initiated, and symptoms improved, but microscopic haematuria persisted. Even in the absence of typical purpura, if any gastrointestinal symptoms are observed and HSP is suspected, aggressive diagnostic tools must be considered, including ultrasonography or endoscopy. With only a few reported cases of HSP associated with influenza infection, this is the first reported case with gastrointestinal involvement and renal impairment, but without typical skin lesions.
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Vasculitis por IgA/diagnóstico , Gripe Humana/complicaciones , Dolor Abdominal/etiología , Preescolar , Femenino , Humanos , Vasculitis por IgA/complicaciones , Vasculitis por IgA/etiología , Intestinos , VómitosRESUMEN
Pediatric multiple sclerosis (MS) and neuromyelitis optica (NMO) are rare acquired demyelinating syndrome with limited epidemiological data available, particularly in non-Western setting. This study aimed to demonstrate the epidemiology of pediatric MS and NMO in South Korea and to analyze of healthcare utilization and economic burden associated with these conditions. Using a nationwide population-based database from the Korean Health Insurance Review and Assessment Service database, we identified pediatric cases (age < 20 years) of MS and NMO from 2016 to 2020. We analyzed incidence, prevalence, healthcare utilization and medical costs. The study found low age-standardized incidence and prevalence rates for pediatric MS and NMO in South Korea. There was a marked disparity in healthcare utilization between urban and rural areas. Most healthcare interactions occurred in tertiary hospitals in urban settings, particularly in Seoul. The study also highlighted the substantial economic burden associated with the management of rare diseases, with annual variability in medical costs. Pediatric MS and NMO are extremely rare in South Korea, with significant regional disparity in healthcare utilization. The findings emphasize the need for targeted healthcare policies to improve access and reduce disparities, particularly for chronic and rare diseases requiring specialized care.
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Objectives: Guillain-Barré syndrome (GBS) is an immune-mediated polyradiculoneuropathy, often triggered by infection. We aimed to investigate how the incidence of GBS changed in the early stages of the coronavirus 2019 (COVID-19) pandemic when nationwide infections declined due to non-pharmaceutical interventions. Methods: We conducted a nationwide population-based retrospective GBS cohort study using data from the Health Insurance Review and Assessment Service of Korea. Patients with new-onset GBS were defined as those who were first hospitalized between 1 January 2016 and 31 December 2020 with an International Classification of Disease, 10th Revision code, for GBS (G61.0) as a primary diagnosis. The incidence of GBS in the pre-pandemic years (2016-2019) was compared with that in the first pandemic year (2020). Nationwide epidemiological data for infections were collected from the national infectious disease surveillance system. A correlation analysis was performed to determine the incidence of GBS and nationwide trends of various infections. Results: Overall, 3,637 new-onset GBS cases were identified. The age-standardized incidence of GBS in the first pandemic year was 1.10 (95% confidence interval, 1.01-1.19) per 100,000 persons. Compared to the first pandemic year, the incidence of GBS during the pre-pandemic years (1.33-1.68/100,000 persons/year) was significantly higher, with incidence rate ratios of 1.21-1.53 (P < 0.001). Nationwide cases of upper respiratory viral infections were significantly reduced in the first pandemic year; however, Campylobacter infections peaked in the summer of the pandemic. The nationwide epidemiology of parainfluenza virus, enterovirus, and Campylobacter infections correlated positively with GBS incidence. Conclusion: The overall GBS incidence decreased in the early stages of the COVID-19 pandemic, which can be attributed to the dramatic reduction in viral illnesses due to public measures.
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[This corrects the article DOI: 10.3389/fneur.2023.1125455.].
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BACKGROUND: Acute disseminated encephalomyelitis (ADEM) is an immune-mediated demyelinating disorder of the central nervous system that is usually triggered by infections. We aimed to determine the temporal trends in the incidence of ADEM before and during the pandemic and their correlation with viral epidemiology. METHODS: We conducted a nationwide, population-based, retrospective, ADEM cohort study by using the Health Insurance Review and Assessment Service database. New-onset ADEM was defined as a patient (age <19 years) who was hospitalized with a diagnostic code of G04.0, G36.8, and G36.9 and a prescription of intravenous methylprednisolone. The National Infectious Disease Surveillance System was used to collect the nationwide viral epidemics. RESULTS: A total of 185 new-onset pediatric ADEM cases were included. The mean patient age was 7.0 ± 4.9 years. The incidence of ADEM was 0.34 to 0.48 of 100,000 persons per year before the pandemic, which dropped to 0.22 of 100,000 persons per year during the first pandemic year. The risk of ADEM occurrence was approximately 1.74% higher during the prepandemic years compared with the first pandemic year (odds ratio = 1.017, P = 0.009). There was a weak positive correlation between acute respiratory viral infection and ADEM incidence (r = 0.28, P = 0.03). CONCLUSION: This study demonstrates how infection control during the early coronavirus disease 2019 (COVID-19) pandemic influenced the incidence of ADEM. The low incidence of ADEM in the early COVID-19 pandemic may be related to the decline in acute respiratory viral infections, which are potential triggers of ADEM.
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COVID-19 , Encefalomielitis Aguda Diseminada , Niño , Humanos , Adulto Joven , Adulto , Preescolar , Encefalomielitis Aguda Diseminada/diagnóstico , Pandemias , COVID-19/epidemiología , COVID-19/complicaciones , Estudios de Cohortes , Estudios Retrospectivos , IncidenciaRESUMEN
Pediatric nondysraphic intramedullary lipoma is very rare, and only limited cases have been reported. In the present case, we present two infant patients with these pathologies who were surgically treated. Previous literature on 20 patients with these diseases who had undergone surgical treatments was analyzed. Surgical treatment should be considered in most symptomatic patients, and laminoplastic laminotomy and internal debulking of the lipoma under intraoperative neurophysiological monitoring are mostly recommended.
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Cerebrospinal fluid (CSF) is a dynamic metabolically active body fluid that has many important roles and is commonly analyzed in pediatric patients, mainly to diagnose central nervous system infection and inflammation disorders. CSF components have been extensively evaluated as biomarkers of neurological disorders in adult patients. Circulating microRNAs in CSF are a promising class of biomarkers for various neurological diseases. Due to the complexity of pediatric neurological disorders and difficulty in acquiring CSF samples from pediatric patients, there are challenges in developing CSF biomarkers of pediatric neurological disorders. This review aimed to provide an overview of novel CSF biomarkers of seizure disorders, infection, inflammation, tumor, traumatic brain injuries, intraventricular hemorrhage, and congenital hydrocephalus exclusively observed in pediatric patients.
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Bacterial infections (BIs) need to be differentiated from non-BIs (NBIs) to enable prompt administration of antibiotics. Therefore, inflammatory biomarkers are needed as they can accurately identify BIs. This study evaluated the usefulness of procalcitonin (PCT) in the diagnosis of BI in immunocompetent children. We retrospectively reviewed the medical records of patients <18 years who underwent PCT measurements between July 2012 and June 2019. In total, 474 patients were enrolled and divided into the BI (n = 205) and NBI groups (n = 269). The BI group was subcategorized into the invasive BI (IBI; n = 94), mucosal BI (MBI; n = 31), toxigenic BI (TBI; n = 23), and localized BI (LBI; n = 57) subgroups. The NBI group was further subcategorized into the viral infection (VI; n = 118) and inflammatory disease groups (ID; n = 151). PCT was compared with the levels of C-reactive protein (CRP), white blood cell (WBC), and erythrocyte sedimentation rate (ESR). Between the BI and NBI groups, PCT (4.2 ± 16.9 vs. 1.1 ± 2.5 ng/mL; p = 0.008) and ESR (39.1 ± 32.4 vs. 54.8 ± 28.2 mm/h; p < 0.001) were significantly different. Between the IBI and other groups, WBC (14,797 ± 7148 vs. 12,622 ± 5770 × 106/L; p = 0.007), ESR (35.3 ± 30.3 vs. 51.5 ± 30.3 mm/h; p < 0.001), and PCT (8.1 ± 23.8 vs. 1.0 ± 3.4 ng/mL; p = 0.005) were significantly different. However, none of the biomarkers were useful in differentiating BI from NBI. While WBC (area under curve (AUC) = 0.615, p = 0.003) and PCT (AUC = 0.640, p < 0.001) were useful, they fared poorly in differentiating IBI from other groups. Thus, additional studies are needed to identify more accurate biomarkers capable of differentiating BIs, especially IBIs.
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We investigated head-up tilt test (HUTT) results across age-groups in syncope/presyncope patients to establish pediatric postural orthostatic tachycardia syndrome (POTS) characteristics. We retrospectively reviewed syncope patients' medical records. Adolescents were defined as 10 to 19 years old, adults as 20 to 59 years old, and older individuals as ≥60 years old. From HUTT results, we determined POTS prevalence and differences among the age-groups. We included 147 adolescents, 269 adults, and 123 older patients. Seventy (13.0%) patients (61.4% females; median age: 20 [17-25] years) were diagnosed with POTS. The syndrome was more prevalent among adolescents (33 [22.4%]) than adults (37 [13.8%]), and was absent among older individuals. Affected adolescents had significantly lower resting diastolic blood pressure (DBP) and heart rate (HR), and converted to maximum HR more rapidly than adolescents without the syndrome during the passive phase. Adolescents with POTS demonstrated several unique characteristics compared to adults with and adolescents without this syndrome. POTS may be underrecognized among syncope and presyncope patients, among which 22.4% of adolescents were diagnosed with the syndrome. POTS should be considered when evaluating syncope patients.
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Síndrome de Taquicardia Postural Ortostática , Adulto , Femenino , Humanos , Adolescente , Niño , Adulto Joven , Persona de Mediana Edad , Masculino , Síndrome de Taquicardia Postural Ortostática/diagnóstico , Pruebas de Mesa Inclinada , Estudios Retrospectivos , Síncope/diagnóstico , Frecuencia Cardíaca/fisiologíaRESUMEN
Irritable bowel syndrome (IBS) is a common pediatric functional gastrointestinal disorder. It is characterized by recurrent abdominal pain and changes in bowel habits and is more prevalent in obese patients. We investigated the association between obesity and IBS in pediatric patients through fecal calprotectin testing. Patients under 18 years of age with IBS who underwent fecal calprotectin testing from January 2015 through April 2020 were retrospectively investigated. The patients were divided into groups based on body mass index (BMI): group I (BMI < 85th percentile) and group II (BMI ≥ 85th percentile). Group II was divided into group IIa, overweight (85th percentile ≤ BMI < 95th percentile), and group IIb, obese (BMI ≥ 95th percentile). Among 277 included patients, 202 (72.9%) were in group I, and 75 (27.1%) were in group II (mean calprotectin levels, 75.60 ± 103.48 vs 45.89 ± 66.57 µg/g, respectively; P = .006). There were significant differences in mean calprotectin levels between groups I and IIa (75.60 ± 103.48 vs 45.45 ± 63.38 µg/g, respectively; P = .028) and groups I and IIb (75.60 ± 103.48 vs 46.22 ± 69.59 µg/g, respectively; P = .025). There was a significant difference in mean calprotectin levels between groups I and II (85.69 ± 142.13 vs 32.04 ± 28.17 µg/g, respectively; P = .029) among patients between 6 and 12 years of age but not among adolescents aged between 12 and 18 years (P = .139). Fecal calprotectin was lower when moderate-to-severe fatty livers were observed by ultrasound compared with normal livers (68.52 ± 97.22 vs 18.53 ± 18.56 µg/g, respectively; P = .017). Fecal calprotectin levels were higher in normal-weight pediatric IBS patients than in their obese counterparts, and this difference was more prominent in younger patients. In young children, IBS symptoms are thought to be influenced more by factors other than intestinal inflammation.
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Síndrome del Colon Irritable , Complejo de Antígeno L1 de Leucocito , Adolescente , Índice de Masa Corporal , Niño , Heces , Humanos , Síndrome del Colon Irritable/complicaciones , Síndrome del Colon Irritable/diagnóstico , Obesidad/complicaciones , Estudios RetrospectivosRESUMEN
Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic features, mental retardation and epilepsy, so ATR-X syndrome was considered. Hemoglobin H inclusions in red blood cells supported the diagnosis and genetic studies confirmed it. Mutation analysis for our patient showed a point mutation of thymine to cytosine on the 9th exon in the ATRX gene, indicating that Trp(C), the 220th amino acid, was replaced by Ser(R). Furthermore, we investigated the same mutation in family members, and his mother and two sisters were found to be carriers.
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Hemoglobina H/genética , Sustitución de Aminoácidos , Trastorno Dismórfico Corporal/complicaciones , Preescolar , Análisis Mutacional de ADN , Epilepsia/complicaciones , Exones , Humanos , Discapacidad Intelectual/complicaciones , Masculino , Discapacidad Intelectual Ligada al Cromosoma X/complicaciones , Discapacidad Intelectual Ligada al Cromosoma X/diagnóstico , Discapacidad Intelectual Ligada al Cromosoma X/genética , Mutación Puntual , República de Corea , Talasemia alfa/complicaciones , Talasemia alfa/diagnóstico , Talasemia alfa/genéticaRESUMEN
ABSTRACT: We designed this study to assess the effectiveness of prealbumin as an indicator of growth as well as a nutritional marker in neonates.Between March 2017 and June 2019, we measured serum prealbumin concentrations of 80 neonates in neonatal intensive care unit at birth, postnatal day 14 and 28, and classified them into 3 groups (early preterm, late preterm, and term infants). And we examined correlation among prealbumin levels, nutritional intake, and anthropometric measurements (weight, length, and head circumference) in neonates.Prealbumin measured on the 14th postnatal day in early preterm infants showed significant correlations with the length, weight, and head circumference z-scores. Prealbumin levels increased with time in the late preterm and term groups. At birth, prealbumin levels were the lowest in late preterm babies, implying that they are nutritionally deficient and need nutritional support. At postnatal day 28, the prealbumin levels of many preterm infants did not reach those seen in term babies at birth, suggesting the presence of extrauterine growth restriction.Prealbumin can be considered as an indicator of sufficient growth in early preterm infants.