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Abstract Urgent haploidentical haematopoietic cell transplantation may be considered in cases of severe aplastic anaemia (SAA) without a human leukocyte antigen‐matched donor and suffering from severe infection. However, deciding on allogeneic transplantation in the setting of active systemic infection is challenging due to poor outcomes. This report presents a case of disseminated Magnusiomyces capitatus infection in a 5‐year‐old male who underwent immunosuppressive therapy for hepatitis‐associated SAA. To address the critical situation, granulocyte transfusion was promptly administered from the patient's mother, followed by unmanipulated haploidentical peripheral blood stem cell transplantation from the patient's father with posttransplant cyclophosphamide, ultimately resulting in successful rescue.

Introduction Although the prognosis of Langerhans cell histiocytosis (LCH) is excellent, the high recurrence rate and permanent consequences, such as central diabetes insipidus and LCH-associated neurodegenerative diseases, remain to be resolved. Based on previous reports that patients with high-risk multisystem LCH show elevated levels of inflammatory molecules, we hypothesised that dexamethasone would more effectively suppress LCH-associated inflammation, especially in the central nervous system (CNS). We further hypothesised that intrathecal chemotherapy would effectively reduce CNS complications. We administer zoledronate to patients with multifocal bone LCH based on an efficacy report from a small case series.Methods and analysis This phase II study (labelled the LCH-19-MSMFB study) is designed to evaluate the significance of introducing dexamethasone and intrathecal chemotherapy for multisystem disease and zoledronate for multifocal bone disease in previously untreated, newly diagnosed children, adolescents (under 20 years) and adults under 40 years. The primary endpoint is the 3-year event-free survival rate by risk group of under 20 years and the 3-year event-free survival rate of 20 years and over.Ethics and dissemination This study was approved by the Central Review Board of the National Hospital Organisation Nagoya Medical Centre (Nagoya, Japan) on 21 January 2022 and was registered in the Japan Registry of Clinical Trials (https://jrct.niph.go.jp/en-latest-detail/jRCTs041210027). Written informed consent will be obtained from all patients and/or their guardians.Trial registration number jRCTs041210027.

Epidemiological studies on radiation exposure from pediatric CT scans have attracted attention in terms of radiological protection. These studies have not taken into account the reasons why CT examinations were performed. It is presumed that there are clinical reasons that justify more frequent CT examinations in children. The purpose of this study was to characterize the clinical reasons why relatively high numbers of head CT examinations (NHCT) are frequently performed and to conduct a statistical analysis to determine the factors governing the NHCT. Patient information, the date of examination, and medical conditions for examination data stored on the radiology information system were used to investigate the reasons for undergoing CT examinations. The target facility was National Children’s Hospital; data were obtained from March 2002 to April 2017, and the age of the study population was less than 16 years old. Quantitative analysis of the factors associated with frequent examinations was conducted by Poisson regression analysis. Among all patients who had a CT scan, 76.6% had head CT examinations, and 43.4% of children were under 1 year old at the time of the initial examination. There were marked differences in the number of examinations depending on the disease. The average NHCT was higher for children younger than 5 days of age. Among children less than 1 year of age with surgery, there was a marked difference between hydrocephalus, with a mean = 15.5 (95% CI 14.3,16.8), and trauma, with a mean = 8.3 (95% CI 7.2,9.4). In conclusion, this study revealed that NHCT was significantly higher in children who had undergone surgery than in those who had not been to the hospital. The clinical reasons behind patients with higher NHCT should be considered in investigating a causal relationship between CT exposure and brain tumors.

Cystitis cystica and glandularis is a hyperproliferative disease of the urothelium, and may form a papillary or polypoid mass. Clinically, these mass lesions are often difficult to distinguish from malignant tumors. We present a pediatric patient of cystitis cystica and glandularis with a bladder mass and discuss dynamic contrast-enhanced magnetic resonance imaging (MRI) findings and histopathological profiles, which have not been previously explored in the literature. Dynamic contrast-enhanced MRI showed unique, superficial, strong enhancement that resembles an inchworm in appearance. The term “inchworm sign” is a characteristic finding on diffusion-weighted MRI, proposed as a criterion for T-staging in non-muscle-invasive bladder cancer. We would like to propose another “inchworm sign” on dynamic contrast-enhanced MRI as a new hallmark of cystitis cystica and glandularis, which may differentiate it from a malignant tumor.

Abstract Background Kaposiform hemangioendothelioma (KHE) is a rare locally aggressive vascular neoplasm that occurs mainly in the pediatric population. KHE usually originates just underneath the skin and affects deeper tissues through infiltrative growth; however, visceral tissue involvement is quite rare. Case presentation An 8-month-old girl with jaundice and acholic stool was referred to our hospital for further evaluation of a hepatoduodenal ligament tumor. A blood examination revealed high bilirubin and liver enzyme levels, but no signs of coagulopathy. The first attempt at a diagnostic surgical procedure did not provide sufficient diagnostic information. However, the histopathological diagnosis of the cystic duct excised in the second surgery indicated KHE. Therefore, in our case, KHE was considered a cause of obstructive jaundice. Sirolimus (rapamycin) was initiated, and the patient was discharged 7 months after admission. Conclusions In cases of atypical hypervascular lesions in the abdominal cavity, especially in the pediatric population, it is important to consider the possibility of KHE, and surgical intervention with proper strategies is required for diagnosis, followed sequentially by promising treatments.

Abstract Background Systemic juvenile xanthogranuloma is a very rare disease typically presents as skin lesions with yellow papules or nodules and is sometimes fatal. We report a case of congenital neonatal systemic juvenile xanthogranuloma with atypical skin appearance that made the diagnosis difficult. Case presentation A preterm Japanese female neonate with prenatally diagnosed fetal hydrops in-utero was born with purpuric lesions involving the trunk and face. Since birth, she had hypoxemic respiratory failure, splenomegaly, anemia, thrombocytopenia, coagulopathy, and was transfusion dependent for red blood cells, fresh frozen plasma, and platelets. Multiple cystic lesions in her liver, part of them with vascular, were detected by ultrasound. A liver biopsy was inconclusive. A skin lesion on her face similar to purpura gradually changed to a firm and solid enlarged non-yellow nodule. Technically, the typical finding on skin biopsy would have been histiocytic infiltration (without Touton Giant cells) and immunohistochemistry results which then would be consistent with a diagnosis of systemic juvenile xanthogranuloma, and chemotherapy improved her general condition. Conclusions This case report shows that skin biopsies are necessary to detect neonatal systemic juvenile xanthogranuloma when there are organ symptoms and skin eruption, even if the skin lesion does not have a typical appearance of yellow papules or nodules.

Nodular fasciitis occurring at the anterior abdominal wall in a 12-year-old female is reported. Nodular fasciitis has recently been recognized as a kind of neoplasm and its characteristic fusion genes such as MYH9-USP6 have been reported. The mass reported here occurred in a pediatric patient and the mass originated at the abdominal wall, whose clinical features were extremely rare.

The incidence of cardiovascular events correlates inversely with cholesterol efflux capacity (CEC) more than with HDL-cholesterol level. The measurement of CEC is used to qualify cardiovascular disease risk and is conventionally performed with radioisotope (RI)-labeled cholesterol. Here, we established a CEC measurement technique using stable isotope-labeled cholesterol as an alternative, and we compared the new method with RI and fluorescence (boron dipyrromethene difluoride-cholesterol) methods in cells and in patient serum. We incubated J774 cells labeled with [d7]cholesterol ([d7]C) with patient serum depleted of apoB, and [d7]C extracted from the culture medium was quantified by liquid chromatography/quadrupole time-of-flight mass spectrometry. [d7]C efflux increased with greater apoB-depleted serum concentration and longer incubation time. The assay coefficient of variation (CV) of five consecutive measurements of three sets of samples ranged from 7.3% to 9.5%, and the interassay CV determined by measuring three samples four times ranged from 4.1% to 8.5%, both indicating good precision. We then measured CEC levels of 41 outpatients with serum HDL-cholesterol levels between 36 and 94 mg/dl (mean: 61.7 ± 18.0 mg/dl); in the presence of cAMP, we observed a significant, positive correlation between CEC levels determined with the stable isotope and RI methods that was stronger than the correlation between measurements obtained by the fluorescence and RI methods (r = 0.73, P < 0.0001 vs. r = 0.55, P < 0.001). Therefore, our stable isotope method can be considered useful as a non-RI method and thus deserves evaluation in future clinical studies.

Background:. Treatment of cranial deformity is often performed during infancy in cases such as craniosynostosis and deformational plagiocephaly. To acquire morphologic standards for the treatment goals of these conditions, we created cranial average models and elucidated the growth patterns of the cranium of healthy infants in 3-dimension (3D) using homologous modeling. Methods:. Homologous modeling is a technique that enables mathematical analysis of different 3D objects by converting the objects into homologous models that share the same number of vertices with the same spatial relationships. Craniofacial computed tomographic data of 120 healthy infants ranging in age from 1 to 17 months were collected. Based on the computed tomographic data, we created 120 homologous models. Six average 3D models (20 individuals each for 6 different age groups) were created by averaging the vertices of the models. Three-dimensional growth patterns of the cranium were clarified by comparing the 6 average models. Results:. We successfully created 6 average models and visualized the growth patterns of the cranium. From 1-month-old to 5-month-old infants, the entire cranium except for the occipital region grows, and the cranium tended to be brachycephalic (cephalic index at 4–5 months: 87.1–97.3), but the growth was thereafter localized to specific areas. Conclusions:. Three-dimensional growth patterns of the cranium of healthy infants were clarified. These findings will support the understanding and treatment of the conditions that cause cranial deformity. To our knowledge, this is the first report to visualize the growth patterns of the entire cranium of healthy infants in 3D.

Background: Groove pancreatitis is a type of pancreatitis where inflammation occurs in the “groove area” which is the narrow space surrounded by the duodenum, head of the pancreas and common bile duct, where lymph nodes, blood vessels and pancreatic duct exist. Groove area inflammation causes duodenal stenosis/obstruction, narrowing of the extrahepatic biliary tree and sometimes pancreatitis. The exact etiology of the disease is not well understood but Santorini duct obstruction (congenital or acquired) may be associated with inflammation of the groove area, which is partly caused by excessive alcoholic intake or gastric/duodenal peptic ulcer in adults. Case presentation: We report a very rare pediatric case of groove pancreatitis. The imaging findings were typical for groove pancreatitis and the bypass operation to release duodenal stenosis and extrahepatic biliary tree obstruction was performed instead of doing pancreaticoduodenectomy often done in adult cases. Conclusion: Groove pancreatitis is a rare disorder and a pediatric case is quite rare but pediatric surgeons should keep in mind this rare disorder when we meet the case with biliary dilatation and/or duodenal stenosis.

We report a case of congenital thyroid teratoma that was diagnosed in fetal life and completely excised after birth. The histopathological diagnosis was immature teratoma. Recurrent nerve palsy was experienced after the complete excision, but hypothyroidism was not seen in this case. Thyroid teratoma at a neonatal age has a good prognosis when intensive respiratory care is properly administered after birth and complete excision is performed.

In the JPLT3 study, a real-time central surgical reviewing (CSR) system was employed aimed at facilitating early referral of candidates for liver transplantation (LTx) to centers with pediatric LTx services. The expected consequence was surgery, including LTx, conducted at the appropriate time in all cases. This study aimed to review the effect of CSR on institutional surgical decisions in cases enrolled in the JPLT3 study. Real-time CSR was performed in cases in which complex surgeries were expected, using images obtained after two courses of preoperative chemotherapy. Using the cloud-based remote image viewing system, an expert panel consisting of pediatric and transplant surgeons reviewed the images and commented on the expected surgical strategy or the necessity of transferring the patient to a transplant unit. The results were summarized and reported to the treating institutions. A total of 41 reviews were conducted for 35 patients, and 16 cases were evaluated as possible candidates for LTx, with the treating institutions being advised to consult a transplant center. Most of the reviewed cases promptly underwent definitive liver surgeries, including LTx per protocol.

A rare pediatric case of pancreaticobiliary maljunction (PBM) with pancreas divisum is reported. The case showed extremely rare arrangement of the biliary tree and pancreatic duct; the common channel usually seen in PBM did not exist and the common bile duct was connected to the dorsal pancreatic duct via a dilated intermediary duct, in which a large protein plug had formed. The common bile duct was not dilated at all. All of these anomalies may have been caused by abnormal development of the ventral and dorsal pancreatic ducts at an early gestational age.We report a very rare pediatric case of pancreaticobiliary maljunction (PBM) complicated with pancreas divisum. In this case, the common bile duct showed a normal caliber and it was connected to the dorsal pancreatic duct through an intermediary dilated duct, which contained a protein plug that dammed up bile and pancreatic juice flow. This anomaly is very similar to type IIIc3 choledochal cyst, whose classification was addressed by Komi et al. (1), but it differed in the following point; in our case, the common bile duct did not connect to the duodenum through the ampulla of Vater (the common channel was absent) and bile was drained to the duodenum through Santorini duct. These quite rare anomalies might have been caused in the fetus by some kind of maldevelopment of the ventral and dorsal pancreatic ducts. Keywords: Pancreaticobiliary maljunction, Pancreas divisum, Pancreatitis

Congenital high airway obstruction syndrome (CHAOS) is a rare congenital anomaly and the most common etiology is laryngeal atresia. Recently, an increasing number of cases have survived due to prenatal diagnosis and pre- and peri-natal care including ex-utero intrapartum treatment (EXIT). More than 100 cases of CHAOS have been reported, and about half of them were complicated with associated anomalies. Here we report a very rare case of prenatally diagnosed CHAOS (laryngeal atresia) complicated with esophageal atresia, tracheoesophageal fistula (TEF) and duodenal atresia, and the patient was saved by EXIT. This combination of anomalies resulted in a very confusing prenatal diagnosis with unique imaging feature of the fetus.

A tailgut cyst is a congenital cystic lesion that is situated at the presacral and postrectal area and is considered to be a remnant of the tailgut that develops in early fetal life and usually regresses later. Approximately 20 pediatric cases of tailgut cyst have been reported. We report an infantile case of tailgut cyst that was complicated with a skin dimple at the coccygeal region. The cyst was completely resected and the pathological diagnosis was mature teratoma. We finally diagnosed it as a tailgut cyst by several clinical findings including the site of the cyst, MRI image, the fact that it was complicated with a skin dimple, and the pathological findings.

We report the first case of a pancreatic desmoid tumor detected during follow-up for hemihypertrophy in a 4-year-old boy. Hemihypertrophy is a rare disorder in which one side of the body grows more than the other, causing asymmetry, and well-known complications include embryonal tumors. However, there has been no report of desmoid tumors in patients with hemihypertrophy, and these tumors are rare and poorly characterized in the literature, especially the cystic variant. For this patient, the lesion was diagnosed as a desmoid tumor based on immunostaining positive for beta-catenin and mutation of the beta-catenin gene (CTNNB1). This case suggests that desmoid tumors should be considered a possible etiology of pancreatic cystic lesions in patients with hemihypertrophy.

Abstract Background Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care. An autopsy revealed a left CDH without herniation of the liver or stomach into the thoracic cavity, severe hydrocephalus, Chiari malformation type II, MMC with spina bifida from Th4 to Th12, hemivertebrae, fused ribs, deformities of the thoracic cage and legs, short trunk, and agenesis of the left kidney. Conclusion We speculate that two factors may be associated with the severe pulmonary hypoplasia: decreased thoracic space due to the herniation of visceral organs caused by CDH and thoracic dysplasia due to skeletal deformity and severe scoliosis.

The first step in reverse cholesterol transport is a process by which lipid-free or lipid-poor apoA-1 removes cholesterol from cells through the action of ATP binding cassette transporter A1 at the plasma membrane. However the structure and composition of lipid-free or -poor apoA-1 in plasma remains obscure. We previously obtained a monoclonal antibody (MAb) that specifically recognizes apoA-1 in preβ1-HDL, the smallest apoA-1-containing particle in plasma, which we used to establish a preβ1-HDL ELISA. Here, we purified preβ1-HDL from fresh normal plasma using said antibody, and analyzed the composition and structure. ApoA-1 was detected, but neither phospholipid nor cholesterol were detected in the purified preβ1-HDL. Only globular, not discoidal, particles were observed by electron microscopy. In nondenaturing PAGE, no difference in the mobility was observed between the purified preβ1-HDL and original plasma preβ1-HDL, or between the preβ1-HDL and lipid-free apoA-1 prepared by delipidating HDL. In sandwich ELISA using two anti-preβ1-HDL MAbs, reactivity with intact plasma preβ1-HDL was observed in ELISA using two MAbs with distinct epitopes but no reactivity was observed in ELISA using a single MAb, and the same phenomenon was observed with monomolecular lipid-free apoA-1. These results suggest that plasma preβ1-HDL is lipid-free monomolecular apoA-1.

We have established an immunoassay for preβ1-HDL (the initial acceptor of cellular cholesterol) using a monoclonal antibody, MAb55201. Because preβ1-HDL is unstable during storage, fresh plasma must be used for preβ1-HDL measurements. In this study, we describe a method of stabilizing preβ1-HDL, and evaluate the analytical performance of the immunoassay for preβ1-HDL. Fresh plasma was stored under various conditions with or without a pretreatment consisting of a 21-fold dilution into 50% (v/v) sucrose. Preβ1-HDL concentration was measured by immunoassay. In nonpretreated samples, preβ1-HDL decreased significantly from the baseline after 6 h at room temperature. Although preβ1-HDL was more stable at 0°C than at room temperature, it increased from 30.2 ± 8.5 (SE) to 56.5 ± 5.5 mg/l apolipoprotein A-I (apoA-I) (P < 0.001) in hyperlipidemics, and from 18.4 ± 1.2 to 37.9 ± 3.3 mg/l apoA-I (P < 0.001) in normolipidemics after 5-day storage. After 30-day storage at −80°C, preβ1-HDL increased from 29.0 ± 4.0 to 38.0 ± 5.7 mg/l apoA-I (P < 0.001) in hyperlipidemics, whereas it did not change in normolipidemics. In pretreated samples, preβ1-HDL concentration did not change significantly under any of the above conditions. Moreover, preβ1-HDL concentrations determined by immunoassay correlated with those determined by native two-dimensional gel electrophoresis (n = 24, r = 0.833, P < 0.05).An immunoassay using MAb55201 with pretreated plasma is useful for clinical measurement of preβ1-HDL.

Pre-β1-HDL, a putative discoid-shaped high density lipoprotein (HDL) of approximately 67-kDa mass that migrates with pre-β mobility in agarose gel electrophoresis, contains apolipoprotein A-I (apoA-I), phospholipids, and unesterified cholesterol. It participates in the retrieval of cholesterol from peripheral tissues. In this study we established a new sandwich enzyme immunoassay (EIA) for measuring plasma pre-β1-HDL using mouse anti-human pre-β1-HDL monoclonal antibody (MAb 55201) and goat anti-human apoA-I polyclonal antibody. MAb 55201 reacted with apoA-I in lipoprotein [A-I] with molecular mass less than 67 kDa, and with pre-β1-HDL separated by nondenaturing two-dimensional electrophoresis, whereas it did not react with apoA-I in α-HDL. Pre-β1-HDL levels measured by this method declined when incubated at 37°C for 2 h, whereas this decrease was not observed in the presence of 2 mM lecithin:cholesterol acyltransferase inhibitor 5,5′-dithiobis (2-nitrobenzoic acid). To clarify the clinical significance of measuring pre-β1-HDL by this method, 47 hyperlipidemic subjects [male/female 22/25; age 55 ± 14 years; body mass index 25 ± 4.5 kg/m2; total cholesterol (TC) 245 ± 64 mg/dl; triglyceride (TG) 232 ± 280 mg/dl; HDL cholesterol (HDL-C) 51 ± 23 mg/dl] and 25 volunteers (male/female 15/10; age 36 ± 9.3 years; body mass index 23 ± 3.5 kg/m2; TC 183 ± 28 mg/dl; TG 80 ± 34 mg/dl; HDL-C 62 ± 15 mg/dl) were involved. Plasma pre-β1-HDL levels were significantly higher in hyperlipidemic subjects than in volunteers (39.3 ± 10.1 vs. 22.5 ± 7.5 mg/ml, P < 0.001) whereas plasma apoA-I levels did not differ (144.2 ± 28.4 vs. 145.3 ± 16.3 mg/dl). These results indicate that this sandwich EIA method specifically recognizes apoA-I associated with pre-β1-HDL.—Miyazaki, O., J. Kobayashi, I. Fukamachi, T. Miida, H. Bujo, and Y. Saito. A new sandwich enzyme immunoassay for measurement of plasma pre-β1-HDL levels. J. Lipid Res. 2000. 41: 2083–2088.

The objective of this research is to calculate the organ equivalent dose and effective dose from the scanning conditions at 165 centers in Japan using computed tomography (CT) Dose software and compare the results with the CT dose index volume (CTDIvol), dose length product (DLP) and size-specific dose estimates (SSDE) to validate the usefulness of SSDE. The CTDIvol and DLP were significantly lower in infants than in children (p < 0.05). No significant differences were found in the bone marrow equivalent dose and effective dose for the torso between infants and children (p > 0.05), and the bone marrow equivalent dose and effective dose for the head were higher in infants than children (p < 0.05). No significant difference was found in SSDE for the torso between infants and children (p > 0.05). Organ equivalent and effective doses for head CT scans are higher in infants than in children (I/P ratio = 1). The I/P ratios of CTDIvol and DLP for chest and abdominal CT scans are also higher in Japan than in other countries. CTDIvol and DLP are not accurate when used as a dose index, and SSDE was considered suitable for dose assessment of the torso. However, for head CT in infants, a further reduction in radiation exposure is required. [ABSTRACT FROM AUTHOR]