Search Results (33)

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare, often fatal congenital disorder characterized by severe neonatal respiratory distress and associated with complex multisystem malformations. In approximately 90% of cases, the condition is linked to deletions or mutations affecting the FOXF1 gene or its upstream enhancer region on chromosome 16q24.1. This review analyzes reported prenatal cases with 16q24.1 deletion involving FOXF1, aiming to identify recurrent sonographic features and elucidate the underlying genomic and epigenetic mechanisms. We reviewed prenatal cases reported in the literature involving deletions of the 16q24.1 region, including the FOXF1 gene. Here, we expand the case series by reporting a fetus with increased nuchal translucency measuring 8 mm and a de novo 16q24.1 deletion. We identified nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward. Prenatal diagnosis of ACDMPV based solely on ultrasound findings is challenging. In most reported cases, the pregnancy was carried to term, with the diagnosis being confirmed by post-mortem histopathological examination. In the only case in which the pregnancy was terminated at 14 weeks’ gestation, histological examination of the fetal lungs, despite them being in the early stages of development, revealed misaligned pulmonary veins in close proximity to the pulmonary arteries and bronchioles. Evidence highlights the significance of non-coding regulatory regions in the regulation of FOXF1 expression. Differential methylation patterns, and possible contributions of parental imprinting, highlight the complexity of FOXF1 regulation. Early detection through array comparative genomic hybridization (array CGH) or next-generation sequencing to identify point mutations in the FOXF1 gene, combined with increased awareness of ultrasound markers suggestive of the condition, could improve the accuracy of prenatal diagnosis and genetic counseling. Further research into the epigenetic regulation of FOXF1 is crucial for refining recurrence risk estimates and improving genetic counseling practices. Full article

Background and clinical significance: Ectopic ureters are a rare urinary tract malformation, typically diagnosed in childhood and infrequently in adulthood. The prenatal detection by ultrasound and magnetic resonance imaging (MRI) of this clinical entity has scarcely been reported. Careful foetal scanning during the late second and third trimester might provide clues and lead to prenatal detection. However, even the postnatal diagnosis is challenging, and often delayed towards adulthood, since the condition may present with nonspecific symptoms, leading to underdiagnosis or misdiagnosis. In female patients, approximately 25% of ectopic ureters open into the vagina. Due to the high risk of recurrent urinary tract infections and the potential development of uretero-hydronephrosis, timely diagnosis is essential, and prompt surgical correction is mandated. Case presentation: We report the case of a 33-year-old GII PI patient diagnosed with cystic dysplasia of the left foetal kidney at the 16 WG (weeks of gestation) scan. The malformation was consistent at 21 WG when karyotyping by amniocentesis identified a normal female molecular karyotype. MRI performed at 28 weeks confirmed the left renal dysplasia and raised the suspicion of an abnormal insertion of the left ureter into the vagina. After delivery, the vaginal ureteral ectopy was confirmed at 3 weeks postpartum via cystoscopy. Postpartum whole exome sequencing identified a variant of uncertain significance (VUS) mutation in the SOX 13 gene (SRY-box transcription factor 13). Renal scintigraphy performed 7 months postnatally identified a hypo/afunctional left kidney which led to the indication of nephrectomy by the paediatric urologist. The surgical intervention was performed at 8 months postpartum with a favourable outcome. Conclusions: Ectopic ureters are a pathology generating life-long morbidity and discomfort of the offspring and young adult. Awareness to this pathology must be raised among clinicians, especially regarding the potential detection by minute prenatal ultrasound examinations, followed by MRI to refine diagnosis. Postnatally, the persistence of suspicious yet unspecific symptoms, in both males and females, must trigger thorough imaging/cystoscopic examination to reach diagnosis and provide correct management. Full article

Background/Objectives: Pneumatocysts, characterized by gas-filled cavities, are commonly found in the spine and pelvis but are rarely observed in the scapula. In this report, we describe two rare cases of scapular pneumatocysts mimicking bone tumors and exhibiting different image findings. Case Report: Case 1. A 47-year-old man who presented with neck pain underwent radiography, followed by magnetic resonance imaging (MRI). MRI showed heterogeneity with low and high signals on fat-suppressed T2-weighted images, suggestive of enchondroma or fibrous dysplasia (FD). However, preoperative computed tomography (CT) revealed gas-filled cavities within the tumor, in continuity with the shoulder joint, confirming the diagnosis of a pneumatocyst. Case 2. A 58-year-old woman who presented with neck pain underwent similar examinations to Case 1. MRI showed homogeneity with high signals on fat-suppressed T2-weighted images, leading to a suspicion of solitary bone cysts and FD. Preoperative CT revealed gas-filled cavities within the tumor, but no continuity with the joint, leading to the diagnosis of a pneumatocyst. While the exact etiology of pneumatocysts remains unclear, two potential causes are as follows: (i) gas migration from the joint to the bone, and (ii) gas replacement in cystic tumors. Thus, CT is particularly valuable in confirming the presence of gas-filled cavities and aiding in diagnosis. Conclusions: This report highlights two extremely rare cases of scapular pneumatocysts, reflecting two potential etiologies. The utility of CT in the diagnosis of pneumatocyst has been clarified. Full article

Bronchopulmonary dysplasia (BPD) is a severe chronic respiratory disease linked to preterm births. A scoping review was performed to identify risk factors for moderate and severe BPD to develop an evidence-based, early prognostic, globally recognized, and etiology/pathophysiology-based classification. The findings were then validated against a Japanese national database, the Neonatal Research Network Japan. After identifying histological chorioamnionitis, bubbly/cystic appearance on chest X-ray, and small-for-gestational-age infants as risk factors for severe BPD, BPD was divided into nine categories based on the presence or absence of these three risk factors. After consensus was reached using the Delphi method, public comments were requested, and the classification of BPD was finalized. This perspective introduces the new etiology/pathophysiology-based BPD classification, which should be used in research to better understand the respiratory prognosis and pathophysiology of BPD. Full article

Introduction: Liposclerosing myxofibrous tumors (LSMFTs) have been described as an infrequent and peculiar fibrous dysplasia variant with a predilection for the intertrochanteric femoral region and are not globally considered a distinct tumor. Given their features, they may be confused with a variety of entities. Our aim is to analyze the clinical, radiological, histopathological and molecular features of LSMFTs. Material and Methods: We report 15 new LSMFT cases managed in our tertiary referral hospital and compare our findings with those of the 241 previous LSMFT cases published in the English medical literature. Results: In plain radiography and computerized tomography, LSMFTs are well-defined intraosseous lytic masses with peripheral sclerotic rims and variable amounts of internal calcifications. Histopathologically, LSFMTs consist of variable amounts of spindle cells, bone matrix, adipose tissue, and cystic spaces embedded in a predominantly fibromyxoid stroma. Molecular tests reveal GNAS and TP53 mutations. Conclusions: Knowledge of LSMFT and its typical radiological appearance with heterogeneous histopathological findings—especially in small biopsies—are key to preventing the misdiagnosis and overtreatment of affected patients. Full article

Currently, there is no reliable method of discerning between low-risk and high-risk intraductal papillary mucinous neoplasms (IPMNs). Operative resection is utilized in an effort to resect those lesions with high-grade dysplasia (HGD) prior to the development of invasive disease. The current guidelines recommend resection for IPMN that involve the main pancreatic duct. Resecting lesions with HGD before their progression to invasive disease and the avoidance of resection in those patients with low-grade dysplasia is the optimal clinical scenario. Therefore, the importance of developing preoperative models able to discern HGD in IPMN patients cannot be overstated. Low-risk patients should be managed with nonsurgical treatment options (typically MRI surveillance), while high-risk patients would undergo resection, hopefully prior to the formation of invasive disease. Current research is evolving in multiple directions. First, there is an ongoing effort to identify reliable markers for predicting malignant transformation of IPMN, mainly focusing on genomic and transcriptomic data from blood, tissue, and cystic fluid. Also, multimodal models of combining biomarkers with clinical and radiographic data seem promising for providing robust and accurate answers of risk levels for IPMN patients. Full article

This study addresses the critical need for the accurate diagnosis and management of intraductal papillary mucinous neoplasms (IPMNs), which are pancreatic cystic neoplasm types holding a substantial potential for malignancy. It evaluates the diagnostic effectiveness of the Fukuoka consensus guidelines and the European evidence-based guidelines in detecting high-grade dysplasia/invasive carcinoma in IPMNs, utilizing a retrospective analysis of 113 patients from two European medical centers. The methods include a comparative analysis of clinical, radiological, and endoscopic ultrasonography data, alongside an assessment of guideline-driven diagnostic performance. The results demonstrate that both guidelines offer similar accuracy in identifying severe disease stages in IPMNs, with certain clinical markers—such as jaundice, solid mass presence, and an increase in CA 19-9 levels—being pivotal in predicting the need for surgical intervention. This study concludes that while both guidelines provide valuable frameworks for IPMN management, there is an inherent need for further research to refine these protocols and improve patient-specific treatment strategies. This research contributes to the ongoing discourse on optimizing diagnostic and treatment paradigms for pancreatic cystic neoplasms, aiming to enhance clinical outcomes and patient care in this challenging medical field. Full article

The evolving landscape of clinical genetics is becoming increasingly relevant in the field of nephrology. HNF1B-associated renal disease presents with a diverse array of renal and extrarenal manifestations, prominently featuring cystic kidney disease and diabetes mellitus. For the genetic analyses, whole exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA) were performed. Bioinformatics analysis was performed with Ingenuity Clinical Insights software (Qiagen). The patient’s electronic record was utilized after receiving informed consent. In this report, we present seven cases of HNF1B-associated kidney disease, each featuring distinct genetic abnormalities and displaying diverse extrarenal manifestations. Over 12 years, the mean decline in eGFR averaged −2.22 ± 0.7 mL/min/1.73 m². Diabetes mellitus was present in five patients, kidney dysplastic lesions in six patients, pancreatic dysplasia, hypomagnesemia and abnormal liver function tests in three patients each. This case series emphasizes the phenotypic variability and the fast decline in kidney function associated with HNF-1B-related disease. Additionally, it underscores that complex clinical presentations may have a retrospectively straightforward explanation through the use of diverse genetic analytical tools. Full article

Pancreatic cancer is on track to become the second leading cause of cancer-related deaths by 2030, yet there is a lack of accurate diagnostic tests for early detection. Intraductal papillary mucinous neoplasms (IPMNs) are precursors to pancreatic cancer and are increasingly being detected. Despite the development and refinement of multiple guidelines, diagnosing high-grade dysplasia or cancer in IPMNs using clinical, radiologic, endosonographic, and cyst fluid features still falls short in terms of accuracy, leading to both under- and overtreatment. EUS-guided needle-based confocal laser endomicroscopy (nCLE) is a novel technology that allows real-time optical biopsies of pancreatic cystic lesions. Emerging data has demonstrated that EUS-nCLE can diagnose and risk stratify IPMNs more accurately than conventional diagnostic tools. Implementing EUS-nCLE in clinical practice can potentially improve early diagnosis of pancreatic cancer, reduce unnecessary surgeries of IPMNs with low-grade dysplasia, and advance the field of digital pathomics. In this review, we summarize the current evidence that supports using EUS-nCLE as a diagnostic imaging biomarker for diagnosing IPMNs and for risk stratifying their degree of neoplasia. Moreover, we will present emerging data on the role of adding artificial intelligence (AI) algorithms to nCLE and integrating novel fluid biomarkers into nCLE. Full article

Pancreatic cystic disease, including duct dilation, represents precursor states towards the development of pancreatic cancer, a form of malignancy with relatively low incidence but high mortality. While most of these cysts (>85%) are benign, the remainder can progress over time, leading to malignant transformation, invasion, and metastasis. Cytologic diagnosis is challenging, limited by the paucity or complete absence of cells representative of cystic lesions and fibrosis. Molecular analysis of fluids collected from endoscopic-guided fine-needle aspiration of pancreatic cysts and dilated duct lesions can be used to evaluate the risk of progression to malignancy. The basis for the enhanced diagnostic utility of molecular approaches is the ability to interrogate cell-free nucleic acid of the cyst/duct and/or extracellular fluid. The allelic imbalances at tumor suppressor loci and the selective oncogenic drivers are used clinically to help differentiate benign stable pancreatic cysts from those progressing toward high-grade dysplasia. Methods are discussed and used to determine the efficacy for diagnostic implementation. Here, we report the analytical validation of methods to detect causally associated molecular changes integral to the pathogenesis of pancreatic cancer from pancreatic cyst fluids. Full article

Background: Since there are many differential diagnoses for cemento-osseous dysplasia (COD), it is very difficult for dentists to avoid misdiagnosis. In particular, if COD is related to an embedded tooth, differential diagnosis is difficult. However, there have been no reports on the characteristics of the imaging findings of COD associated with embedded teeth. The aim of the present study was to investigate the occurrence and imaging characteristics of cemento-osseous dysplasia (COD) associated with embedded teeth, in order to appropriately diagnose COD with embedded teeth. Methods: The radiographs with or without histological findings of 225 patients with COD were retrospectively analyzed. A retrospective search through the picture archiving and communication system (PACS) of the Division of Oral and Maxillofacial Radiology of Kyushu Dental University Hospital was performed to identify patients with COD between 2011 and 2022. Results: Fifteen COD-associated embedded mandibular third molars were identified in 13 patients. All 13 patients were asymptomatic. On imaging, COD associated with embedded mandibular third molars appeared as masses that included calcifications around the apex of the tooth. On panoramic tomography, COD showed inconspicuous internal calcification similar to that of odontogenic cysts or simple bone cysts, especially in patients with COD only around the mandibular third molar region. Those with prominent calcification resembled cemento-ossifying fibroma, calcifying epithelial odontogenic tumor, calcifying odontogenic cyst, adenomatoid odontogenic tumor, and so on, as categories of masses that include calcifications on panoramic tomography and computed tomography. Conclusions: The current investigation is the first to report and analyze the imaging characteristics of COD associated with embedded teeth. It is important to consider the differences between COD and other cystic lesions on panoramic tomography, and the differences between COD and masses that include calcifications on CT. Full article

Renal cystic diseases (RCDs) can arise from utero to early adulthood and present with a variety of symptoms including renal, hepatic, and cardiovascular manifestations. It is well known that common RCDs such as autosomal polycystic kidney disease and autosomal recessive kidney disease are linked to genes such as PKD1 and PKHD1, respectively. However, it is important to investigate the genetic pathophysiology of how these gene mutations lead to clinical symptoms and include some of the less-studied RCDs, such as autosomal dominant tubulointerstitial kidney disease, multicystic dysplastic kidney, Zellweger syndrome, calyceal diverticula, and more. We plan to take a thorough look into the genetic involvement and clinical sequalae of a number of RCDs with the goal of helping to guide diagnosis, counseling, and treatment. Full article

Despite the increasing rate of detection of incidental pancreatic cystic lesions (PCLs), current standard-of-care methods for their diagnosis and risk stratification remain inadequate. Intraductal papillary mucinous neoplasms (IPMNs) are the most prevalent PCLs. The existing modalities, including endoscopic ultrasound and cyst fluid analysis, only achieve accuracy rates of 65–75% in identifying carcinoma or high-grade dysplasia in IPMNs. Furthermore, surgical resection of PCLs reveals that up to half exhibit only low-grade dysplastic changes or benign neoplasms. To reduce unnecessary and high-risk pancreatic surgeries, more precise diagnostic techniques are necessary. A promising approach involves integrating existing data, such as clinical features, cyst morphology, and data from cyst fluid analysis, with confocal endomicroscopy and radiomics to enhance the prediction of advanced neoplasms in PCLs. Artificial intelligence and machine learning modalities can play a crucial role in achieving this goal. In this review, we explore current and future techniques to leverage these advanced technologies to improve diagnostic accuracy in the context of PCLs. Full article

Introduction: It is urgent to make a rapid screening of infants at the highest risk for bronchopulmonary dysplasia (BPD) via some succinct postnatal biomarkers, such as Ureaplasma Urealyticum (UU) infection and chest radiograph images. Methods: A retrospective study was performed. Moderate to severe BPD or death was set as the main outcome. The association between putative variables and the main outcome were assessed by bivariate analyses and logistic regression. Results: A total of 134 infants were enrolled. Bivariate analyses showed the gestational age, birth weight, appearances of diffuse opacities or grid shadows/interstitial opacities or mass opacities or cystic lucencies on chest radiographic images, a ductal diameter ≥1.5 mm and whether UU infection was associated with BPD. After adjustment by logistic regression, the risk of BPD with gestational age, sex and specific chest-radiographic manifestations remained significant. Conclusions: Chest radiograph images (appearance of diffuse opacities or grid shadows/interstitial opacities or mass opacities or cystic lucencies) could provide a quick prediction of developing BPD in clinical practice, in addition to gestational age and sex. UU infection was not an independent risk factor for BPD. Full article

Pancreatic cysts are becoming a popular diagnostic tool due to the increased availability of high-quality cross-sectional imaging. Pancreatic cystic lesions constitute closed, liquid-containing cavities, which are either neoplastic or non-neoplastic. While serous lesions often follow a benign course, mucinous lesions can hide carcinoma and, therefore, require different management. Moreover, all cysts should be considered mucinous until proven otherwise, thus limiting the errors in managing these entities. Due to the need for high contrast soft tissue imaging, magnetic resonance imaging represents an elective, non-invasive diagnostic tool. Endoscopic ultrasound (EUS) has started gaining more prominence with regard to the proper diagnosis and management of pancreatic cysts, offering quality information with minimal risks. Enabling both the acquisition of endoscopic images of the papilla and the endosonographic high-quality evaluation of septae, mural nodules along with the vascular patterns of the lesion contribute to a definitive diagnosis. Moreover, the possibility of obtaining cytological or histological samples could become mandatory in the foreseeable future, allowing for more precise molecular testing. Future research should focus on detecting methods to quickly diagnose high-grade dysplasia or early cancer for patients with pancreatic cysts, thus allowing time for appropriate treatment and avoiding surgical overtreatment or over surveillance in selected cases. Full article