Osteoid osteoma appearing after bony fracture in a girl with osteogenesis imperfecta.

Osteoid osteoma (OO) is a common, benign bone tumor. However, there are no case reports of OO associated with osteogenesis imperfecta (OI), or pathological fractures in OO. A 3-year-old girl with OI sustained a complete right tibial diaphyseal fracture. Bony fusion was completed after 4 months of conservative therapy; nevertheless, 18 months later spontaneous pain appeared at the fracture site, without any cause. Plain radiographs showed a newly apparent, rounded area of translucency 1 cm in diameter, just overlapping the previous fracture. Images obtained using three-dimensional time-resolved contrast-enhanced magnetic resonance angiography showed strong central enhancement in the early phase, with an apparent nidus, suggesting the diagnosis of OO. Nineteen months after the first fracture, while skipping, the patient refractured her tibial diaphysis at the site of the previous fracture. This is a very rare case of OO, apparently co-existing with OI and leading to a bony fracture. In our case, the combination of bone fragility in OI and a recent fracture at the site of the OO may have caused the re-fracture.

Lysophospholipid Acyltransferase 9 Promotes Emphysema Formation via Platelet-activating Factor.

Cigarette smoking is known to be the leading cause of chronic obstructive pulmonary disease (COPD). However, the detailed mechanisms have not been elucidated. Platelet-activating factor (PAF), a potent inflammatory mediator, is involved in the pathogenesis of various respiratory diseases, such as bronchial asthma or COPD. We focused on lysophospholipid acyltransferase 9 (LPLAT9), a biosynthetic enzyme of PAF, in the pathogenesis of COPD. LPLAT9 gene expression was observed in excised COPD lungs and single-cell RNA sequencing data of alveolar macrophage (AM). LPLAT9 was predominant and upregulated in AM, particularly monocyte-derived AM, in patients with COPD. To identify the function of LPLAT9/PAF in AM on the pathogenesis of COPD, we exposed cigarette smoke (CS) to systemic LPLAT9 knockout (LPALT9-/-) mice. CS increased the number of AM, especially monocyte-derived fraction, which secreted matrix metalloprotease 12 (MMP12). Also, CS augmented LPLAT9 phosphorylation/activation on macrophage and, subsequently, PAF synthesis in mice lung. LPLAT9-/- mice lung reduced PAF production after CS exposure. Intratracheal PAF administration accumulated AM by increasing monocyte chemoattractant protein-1 (MCP1). After CS exposure, AM accumulation and subsequent pulmonary emphysema, a primary pathologic change of COPD, were reduced in LPALT9-/- mice than in LPLAT9+/+ mice. Notably, these phenotypes got worsened again by LPLAT9+/+ bone marrow transplantation in LPALT9-/- mice. Thus, CS-induced LPLAT9 activation in monocyte-derived AM aggravated pulmonary emphysema via PAF-induced further AM accumulation. These results suggest that PAF synthesized by LPLAT9 has an important role in the pathogenesis of COPD.

Assessment of mediastinal shift angles in congenital pulmonary airway malformation: a new fetal magnetic resonance imaging indicator of congenital lung disease.

BACKGROUND: The mediastinal shift angle is a new fetal magnetic resonance imaging (MRI) index that is reportedly correlated with postnatal survival in fetuses with congenital diaphragmatic hernia. However, its correlation in patients with congenital pulmonary airway malformation (CPAM) has not been assessed. OBJECTIVE: This study aimed to establish a normal range for the right/left mediastinal shift angles, to evaluate the mediastinal shift angle in fetuses with CPAM, to compare the mediastinal shift angle with the CPAM volume ratio, and to evaluate the predictive value of the mediastinal shift angle measurements. MATERIALS AND METHODS: To establish the normal range, we measured the mediastinal shift angle bilaterally in 124 fetuses without any lung abnormality (the control group). Subsequently, the mediastinal shift angle was measured in 32 fetuses pathologically diagnosed with CPAM. Moreover, the mediastinal shift angle and CPAM volume ratio were compared using fetal MRI. RESULTS: The mean values for the right/left mediastinal shift angles were 18.6°/26.3° and 39.2°/35.9° for control fetuses and fetuses with CPAM, respectively. The mediastinal shift angle and the CPAM volume ratio showed a positive statistical correlation. The area under the curve demonstrated high discriminatory accuracy for the mediastinal shift angle (0.76). CONCLUSION: The mediastinal shift angle has potential to replace the CPAM volume ratio for evaluating the severity of CPAM in fetal MRI.

PIVKA­II is associated with liver function, bone metabolism, and muscle function in patients with liver disease.

Protein induced by vitamin K (VK) absence-II (PIVKA-II) is a sensitive marker for diagnosing hepatoma but is occasionally detected in patients without hepatoma Here, the clinical significance of serum PIVKA-II levels in patients who were not administered warfarin and did not have hepatoma or liver disease were evaluated. As VK is related to muscle and bone metabolism, PIVKA-II and clinical factors related to bone and muscle were compared. A total of 441 patients with various liver diseases were evaluated. Of these, 236 patients were female. Clinical factors and anthropometric measurements were obtained for each participant during outpatient visits. Among the clinical factors, type I procollagen N-propeptide (P1NP), a low titer of undercarboxylated osteocalcin (ucOC), and 25(OH) vitamin D (VD) were used as bone metabolic markers, and SARC-F and grip strength were used as muscle-related markers. Serum PIVKA-II levels above the upper limit were associated with Child B/C (Child-Pugh score), high titers of total P1NP, and low titers of ucOC in females, and alcohol-related liver disease and low VD in males. The titer of PIVKA-II were associated with immunoglobulin (Ig) A and prothrombin time (PT)-international normalized ratio (INR) in females, and fibrosis-4-4, IgG, total bilirubin, PT-INR, and SARC-F in males. Elevated PIVKA-II levels were associated with abnormal bone physiology in females, weak muscles in males, and severe liver disease in both sexes. Assessing PIVKA-II may assist in evaluating the clinical and bone-muscle metabolic stages in liver disease. Nutrition and supplementation with fat-soluble vitamins, including VK and VD may thus serve as a potential method to alleviate or prevent bone-muscle pathophysiology in patients with liver disease.

Rapidly progressive mucus plugs in allergic bronchopulmonary mycosis.

INTRODUCTION: Allergic bronchopulmonary mycosis (ABPM) is a chronic airway disease characterized by the presence of fungi that trigger allergic reactions and airway obstruction. Here, we present a unique case of ABPM in which a patient experienced sudden respiratory failure due to mucus plug-induced airway obstruction. The patient's life was saved by venovenous extracorporeal membrane oxygenation (VV-ECMO) and bronchoscopic removal of the plug. This case emphasizes the clinical significance of mucus plug-induced airway obstruction in the differential diagnosis of respiratory failure in patients with ABPM. CASE STUDY: A 52-year-old female clerical worker with no smoking history, presented with dyspnea. CT scan revealed mucus plugs in both lungs. Despite treatment, the dyspnea progressed rapidly to respiratory failure, leading to VV-ECMO placement. RESULTS: CT revealed bronchial wall thickening, obstruction, and extensive atelectasis. Bronchoscopy revealed extensive mucus plugs that were successfully removed within two days. The patient's respiratory status significantly improved. Follow-up CT revealed no recurrence. Fungal cultures identified Schizophyllum commune, confirming ABPM. Histological examination of the mucus plugs revealed aggregated eosinophils, eosinophil granules, and Charcot-Leyden crystals. Galectin-10 and major basic protein (MBP) staining supported these findings. Eosinophil extracellular traps (EETs) and eosinophil cell death (ETosis), which contribute to mucus plug formation, were identified by citrullinated histone H3 staining. CONCLUSION: Differentiating between asthma exacerbation and mucus plug-induced airway obstruction in patients with ABPM and those with acute respiratory failure is challenging. Prompt evaluation of mucous plugs and atelectasis using CT and timely decision to introduce ECMO and bronchoscopic mucous plug removal are required.

Participant Selection from the General Japanese Population for Pulmonary Function Tests Using a Questionnaire on Symptoms and Smoking Habits during Annual Health Checkups: The Yamagata-Takahata Study.

Objective Pulmonary function tests are essential for diagnosing respiratory diseases, such as chronic obstructive pulmonary disease (COPD), but are typically not performed in Japan during annual health checkups, which hinders the early diagnosis of respiratory diseases. Methods Individuals who agreed to participate in the Yamagata-Takahata study during medical checkups in Takahata (Yamagata Prefecture, Japan) in 2011 were examined. We interviewed 669 participants (49.0% men; mean age, 67.7 years old) regarding their respiratory symptoms and smoking habits and performed pulmonary function tests during the study. Results Based on pulmonary function test results, 141 participants had pulmonary dysfunction, and 115 had obstructive pulmonary dysfunction. The risk of respiratory dysfunction, particularly obstructive respiratory dysfunction, was examined by referring to a questionnaire tool for an early COPD diagnosis. The associations between age, the smoking history, respiratory symptoms, and obstructive respiratory dysfunction were evaluated. Obstructive respiratory dysfunction was found in 17.6% of participants ≥50 years old and 19.5% ≥60 years old, 30.3% had a smoking history, and 32.8% had respiratory symptoms. Furthermore, the participants with multiple factors had a higher probability of obstructive respiratory dysfunction. Conclusion Subjects with obstructive pulmonary dysfunction are expected to be efficiently identified by extracting individuals by age and smoking habit and through a respiratory symptom questionnaire, although pulmonary function tests cannot be performed for all individuals during health checkups.

Pediatric Ribs at Chest Radiography: Normal Variants and Abnormalities.

Normal variants and abnormalities of the ribs are frequently encountered on chest radiographs. Accurate identification of normal variants is crucial to avoid unnecessary investigations. A meticulous evaluation of rib abnormalities can provide valuable insights into the patient's symptoms, and even when no osseous condition is suspected, rib abnormalities may offer critical clues to underlying conditions. Rib abnormalities are associated with various conditions, including benign tumors, malignant tumors, infectious and inflammatory conditions, vascular abnormalities, metabolic disorders, nonaccidental injuries, malformation syndromes, and bone dysplasias. Abnormalities of the ribs are classified into three groups based on their radiographic patterns: focal, multifocal, and diffuse changes. Focal lesions are further subdivided into nonaggressive lesions, aggressive lesions, and infectious and inflammatory disorders. Radiologists should be aware of individual disorders of the pediatric ribs, including their imaging findings, relevant clinical information, and underlying pathogenesis. Differential diagnoses are addressed as appropriate. Since chest radiographs can suffice for diagnosis in certain cases, the authors emphasize a pattern recognition approach to radiographic interpretation. However, additional cross-sectional imaging may be necessary for focal lesions such as tumors or inflammatory conditions. Awareness of disease-specific imaging findings helps ascertain the nature of the lesion and directs appropriate management. ©RSNA, 2023 Quiz questions for this article are available in the supplemental material.

Prenatal diagnosis of bone dysplasias.

Bone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies. The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA in maternal blood samples has had a major impact on the prenatal diagnosis of genetic diseases. However, imaging examinations remain critical for the final diagnosis of bone dysplasias because molecular testing only shows genetic variants, and not their pathogenicity - most variants are clinically insignificant. Bone dysplasias are typically suspected when limb shortening is identified by screening ultrasound. Further assessment can be followed by more detailed ultrasound, magnetic resonance imaging (MRI), and CT. Based on these data, rational decision-making is feasible, even when the definitive prenatal diagnosis is not feasible. Here, we highlight key images of common bone dysplasias obtained by currently available modalities.

PATIENT DOSIMETRY SURVEY OF PEDIATRIC DIAGNOSTIC AND THERAPEUTIC CARDIAC CATHETERISATION IN JAPAN.

To propose reference values for air-kerma at the reference point (Ka,r), air-kerma area product (PKA), fluoroscopy time (FT) and number of cine images (CI) for four age groups in Japan, a nationwide questionnaire was posted to 132 pediatric catheterisation of certified facility in Japan, using the conventional post system, to which 43 facilities responded. For diagnostic cardiac angiography, reference values were as follows: Ka,r: 86, 102, 165 and 264 mGy; PKA: 9.3, 9.5, 16 and 34 Gy.cm2; FT: 33, 29, 26 and 30 min and CI: 1904, 1966, 2405 and 1871 images. For therapeutic cardiac angiography, reference values were as follows: Ka,r: 107, 163, 103 and 202 mGy; PKA: 7.5, 18, 7 and 24 Gy.cm2; FT: 56, 52, 42 and 30 min and CI: 3886, 3232, 2212 and 4316 images for less than 1, 1-5, 6-10 and 11-15 y, respectively. To optimal patient exposure from diagnostic and therapeutic cardiac catheterisation, it is therefore necessary to establish reference values for pediatric cardiac catheterisation examinations for four age groups.

Quantitative Analysis of the Clinical Reasons Influencing the Frequency of Pediatric Head CT Examinations: A Single-Center Observation Study.

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.

Evaluation of radiation dose reduction in head CT using the half-dose method.

PURPOSE: The present study introduced the half-dose method (HDM), which halves the radiation dose for conventional head computed tomography (CT), for postoperative hydrocephalus and follow-up for craniosynostosis at a children's hospital. This study aimed to evaluate the contribution of selective head CT scanning optimization towards the overall reduction of radiation exposure. MATERIALS AND METHODS: We retrospectively assessed 1227 and 1352 head CT examinations acquired before and after the introduction of the HDM, respectively, in children aged 0-15 years. The radiation exposure was evaluated using the CT dose index volume (CTDI-vol), dose-length product (DLP), rate of HDM introduction, and effect of reducing in-hospital radiation dose before and after the introduction of the HDM. For an objective evaluation of the image quality, head CT scans acquired with HDM and full-dose method (FDM) were randomly selected, and the image noise standard deviation (SD) was measured for each scan. In addition, some HDM images were randomly selected and independently reviewed by two radiologists. RESULTS: The HDM was introduced in 27.9% of all head CTs. The mean CTDI-vol of all head CTs was 21.5 ± 6.9 mGy after the introduction, a 14.9% reduction. The mean DLP was 418.4 ± 152.9 mGy.cm after the introduction, a 17.2% reduction. Compared to the FDM images, the noise SD of the HDM ones worsened by almost 0.9; however, none of the images were difficult or impossible to evaluate. CONCLUSION: The HDM yielded diagnostically acceptable images. In addition, a change in protocol for only two diseases successfully reduced the patients' overall radiation exposure by approximately 15%. Introducing and optimizing the HDM for frequently performed target diseases will be useful in reducing the exposure dose for the hospital's patient population.

Significance of a multidisciplinary approach to congenital extrahepatic portosystemic shunt: A changing paradigm for the treatment.

AIM: To review the current institutional practice to treat patients with congenital extrahepatic portosystemic shunt (CEPS) and to determine the optimal strategy. METHODS: We retrospectively reviewed the records of 55 patients diagnosed with CEPS at our center between December 2008 and March 2022. RESULTS: Among these 55 patients, 44 (80.0%) received treatment for CEPS at a median age of 4.7 years. The most common indication for treatment was cardiopulmonary complications (45.5%). Therapeutic intervention included shunt closure by endovascular techniques (50.0%) or surgery (40.9%), and liver transplantation (9.1%). A total of 11 were classified as short shunt types, and surgical ligation was performed in all to preserve the major vascular system and prevent complications (p < 0.001). Children who received a surgical ligation were more likely to develop complications after shunt closure (p = 0.02). Among seven patients with portopulmonary hypertension (POPH), one patient, who received a shunt ligation at <1 year-of-age, was only able to completely discontinue medication. Most other CEPS-related complications were completely resolved. Post-treatment complications, including thrombosis and symptoms of portal hypertension, were seen in 16 patients. After shunt closure, one patient was scheduled to undergo liver transplantation for progressive POPH and large residual hepatocellular adenoma. During follow-up, one patient without any treatment for CEPS developed POPH 16 years from the diagnosis. CONCLUSION: Earlier therapeutic interventions should be strongly considered for patients with POPH related to CEPS. However, in view of the invasiveness and treatment complications, special attention should be paid to the management of patients with short shunt types.

"Another inchworm sign" on dynamic contrast-enhanced magnetic resonance imaging in pediatric patients with cystitis cystica and glandularis: Radiologic-pathologic correlation.

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.

Usefulness of central radiologic review in clinical trials of children with hepatoblastoma.

BACKGROUND: No previous research papers have reported a comparative survey of local radiologic diagnoses and central review in children with hepatoblastoma. OBJECTIVE: To evaluate the utility of central review of children with hepatoblastoma enrolled in a clinical trial. MATERIALS AND METHODS: The study included 91 children enrolled in a clinical trial conducted by the Japanese Study Group for Pediatric Liver Tumor. We compared the results of the initial pre-treatment extent of tumor (PRETEXT) disease staging performed at local sites with the results obtained on central review to determine the concurrence rates for tumor staging and additional criteria. RESULTS: The concurrence rate for PRETEXT staging was 70%. As the stage increased, the concurrence rate decreased. Using additional criteria, central review identified 143 lesions (157.1%), about 1.8 times higher than the number identified for the local site diagnoses. The additional criterion found most often on central review was "multifocal lesion" (n=19). The concurrence rate for lung metastases was high. However, our central review found many false-positive assertions of hepatic vein lesions, portal vein invasion and extrahepatic lesions among the local site diagnoses. CONCLUSION: In a clinical trial of hepatoblastoma, central review provided a more precise diagnosis than local site diagnoses with respect to severe PRETEXT stages III and IV cases and other cases including hepatic and portal vein invasion. The central review process appears to be effective and essential for improving the quality of clinical trials.

Strategy for hepatoblastoma with major vascular involvement: A guide for surgical decision-making.

BACKGROUND: Surgical management of tumor thrombus extending to the major vascular system for children with hepatoblastoma is challenging and insufficiently discussed. METHODS: We conducted a retrospective review of hepatoblastoma with tumor thrombus extending to the major vascular system (inferior vena cava, 3 hepatic veins, and portal vein trunk) treated at our center between May 2010 and June 2021. We describe our preoperative assessment, surgical strategies, and outcomes. RESULTS: We identified 9 patients (median age at the diagnosis: 3.4 years). All patients received chemotherapy before liver surgery. At the time of the diagnosis, tumor thrombus extended to the portal vein trunk (n = 6), inferior vena cava (n = 3), and 3 hepatic veins (n = 2). Among the 9 patients, 4 underwent liver resection. Liver transplantation was performed in 5 patients. The inferior vena cava wall was circumferentially resected for tumor removal in 1 patient and partially resected in 2 patients. One patient underwent liver transplantation using veno-venous bypass. Patients with tumor thrombus extending to the portal vein trunk were more likely to be managed by liver transplantation in comparison to those with tumor thrombus spreading to the inferior vena cava. The median follow-up period was 5.5 years. One patient underwent transhepatic balloon dilatation for biliary stricture after liver resection. Tumor recurrence was seen in 3 patients (33.3%; lung, n = 2; lymph node and liver, n = 1). No patients died during the follow-up period. CONCLUSION: Surgical intervention for pediatric hepatoblastoma with tumor thrombus extending into the major vascular system is safe, feasible, and achieves excellent outcomes.