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1.
Pediatr Radiol ; 54(6): 988-1000, 2024 05.
Article in English | MEDLINE | ID: mdl-38641735

ABSTRACT

BACKGROUND: The use of contrast-enhanced imaging has long been standard for magnetic resonance imaging (MRI) assessments of synovitis in juvenile idiopathic arthritis (JIA). However, advancements in MRI technology have allowed for reliable identification of synovium without contrast. OBJECTIVE: To assess the equivalence of unenhanced MRI with contrast-enhanced MRI in evaluating synovial thickness. MATERIALS AND METHODS: This is an institutional review board approved, retrospective study performed in a tertiary children's hospital. Pediatric JIA patients under 21 years old were included who underwent knee MRI scans (1.5 T or 3 T) without and with contrast between January 2012 and January 2022. Two radiologists independently measured synovial thickness at 6 knee sites on contrast-enhanced and unenhanced sequences. Numerical measurements and ordinal scores based on juvenile idiopathic arthritis magnetic resonance imaging scoring (JAMRIS) system were recorded, and tests of equivalence were conducted, as well as between-reader and within-reader reliability by concordance correlation coefficient (CCC). All tests were considered significant at the 5% level. RESULTS: A total of 38 studies from 35 patients (25 females, median age 14 years; interquartile range 7 to 15.7) were included. Equivalence was demonstrated at each of the 6 sites for both continuous measurements (P-values < 0.05) and ordinal scores (P-values < 0.05) based on the average over readers. Within-reader reliability was moderate to high (CCC 0.50-0.89), except for the cruciate ligaments site. Averaged over the 6 sites, reliability between readers was low for unenhanced (CCC 0.47, with 95% CI: [0.41, 0.53]) and moderate for contrast-enhanced (CCC 0.64, with 95% CI: [0.59, 0.69]) sequences. CONCLUSION: Unenhanced knee MRI is equivalent to contrast-enhanced MRI in assessment of synovial thickness using conventional MRI sequences. Contrast material helped improve inter-reader reliability.


Subject(s)
Arthritis, Juvenile , Contrast Media , Knee Joint , Magnetic Resonance Imaging , Synovial Membrane , Humans , Female , Magnetic Resonance Imaging/methods , Male , Child , Adolescent , Retrospective Studies , Arthritis, Juvenile/diagnostic imaging , Knee Joint/diagnostic imaging , Knee Joint/pathology , Reproducibility of Results , Synovial Membrane/diagnostic imaging , Synovial Membrane/pathology , Synovitis/diagnostic imaging
2.
Radiographics ; 44(5): e230153, 2024 May.
Article in English | MEDLINE | ID: mdl-38602868

ABSTRACT

RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central conducting lymphatic anomaly, and capillary malformation-arteriovenous malformation syndrome. These disorders are grouped together as RASopathies based on our current understanding of the Ras/MAPK pathway. Abnormal activation of the Ras/MAPK pathway plays a major role in development of RASopathies. The individual disorders of RASopathies are rare, but collectively they are the most common genetic condition (one in 1000 newborns). Activation or dysregulation of the common Ras/MAPK pathway gives rise to overlapping clinical features of RASopathies, involving the cardiovascular, lymphatic, musculoskeletal, cutaneous, and central nervous systems. At the same time, there is much phenotypic variability in this group of disorders. Benign and malignant tumors are associated with certain disorders. Recently, many institutions have established multidisciplinary RASopathy clinics to address unique therapeutic challenges for patients with RASopathies. Medications developed for Ras/MAPK pathway-related cancer treatment may also control the clinical symptoms due to an abnormal Ras/MAPK pathway in RASopathies. Therefore, radiologists need to be aware of the concept of RASopathies to participate in multidisciplinary care. As with the clinical manifestations, imaging features of RASopathies are overlapping and at the same time diverse. As an introduction to the concept of RASopathies, the authors present major representative RASopathies, with emphasis on their imaging similarities and differences. ©RSNA, 2024 Test Your Knowledge questions for this article are available in the supplemental material.


Subject(s)
Costello Syndrome , Ectodermal Dysplasia , Heart Defects, Congenital , Noonan Syndrome , Infant, Newborn , Humans , Noonan Syndrome/diagnostic imaging , Noonan Syndrome/genetics , Heart Defects, Congenital/diagnostic imaging , Heart Defects, Congenital/genetics , Ectodermal Dysplasia/diagnostic imaging , Ectodermal Dysplasia/genetics , Radiologists
3.
Radiographics ; 43(12): e230076, 2023 12.
Article in English | MEDLINE | ID: mdl-37943700

ABSTRACT

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.


Subject(s)
Ribs , Humans , Child , Radiography , Ribs/diagnostic imaging , Ribs/abnormalities , Ribs/injuries , Diagnosis, Differential
4.
Br J Radiol ; 96(1147): 20221025, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37351952

ABSTRACT

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.


Subject(s)
Bone Diseases, Developmental , Prenatal Diagnosis , Pregnancy , Female , Humans , Prenatal Diagnosis/methods , Bone Diseases, Developmental/diagnostic imaging , Bone Diseases, Developmental/genetics , Ultrasonography , Fetus/pathology , Receptor, Fibroblast Growth Factor, Type 3 , Ultrasonography, Prenatal
5.
Radiographics ; 43(5): e220067, 2023 05.
Article in English | MEDLINE | ID: mdl-37053103

ABSTRACT

Skeletal dysplasias are a heterogeneous collection of genetic disorders characterized by bone and cartilage abnormalities, and they encompass over 400 disorders. These disorders are rare individually, but collectively they are common (approximate incidence of one in 5000 births). Radiologists occasionally encounter skeletal dysplasias in daily practice. In the 1980s, Professor Juergen Spranger proposed a concept suitable for the diagnosis of skeletal dysplasias termed bone dysplasia families. He stated that (a) different bone dysplasias that share a similar skeletal pattern can be grouped into a "family," (b) the final diagnosis is feasible through the provisional recognition of a pattern followed by a more careful analysis, and (c) families of bone dysplasias may be the result of similar pathogenetic mechanisms. The prototypes of bone dysplasia families include dysostosis multiplex family, achondroplasia family, spondyloepiphyseal dysplasia congenita family, and Larsen syndrome-otopalatodigital syndrome family. Since Spranger's proposal, the concept of bone dysplasia families, along with advancing genetic techniques, has been validated and further expanded. Today, this molecularly proven concept enables a simple stepwise approach to be applied to the radiologic diagnosis of skeletal dysplasias. The first step is the categorization of a given case into a family based on pattern recognition, and the second step is more meticulous observation, such as identification of different severities of the same pattern or subtle but distinctive findings. Since major skeletal dysplasias are limited in number, radiologists can be familiar with the representative patterns of these disorders. The authors describe a stepwise radiologic approach to diagnosing major skeletal dysplasia families and review the clinical and genetic features of these disorders. Published under a CC BY 4.0 license. Quiz questions for this article are available through the Online Learning Center. Online supplemental material and the slide presentation from the RSNA Annual Meeting are available for this article.


Subject(s)
Bone Diseases, Developmental , Hand Deformities, Congenital , Osteochondrodysplasias , Male , Humans , Osteochondrodysplasias/diagnostic imaging , Osteochondrodysplasias/genetics , Bone Diseases, Developmental/diagnostic imaging , Bone Diseases, Developmental/genetics , Radiography
6.
Pediatr Radiol ; 53(7): 1300-1313, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36471168

ABSTRACT

Magnetic resonance imaging has emerged as a preferred modality in pediatric imaging because of its high soft-tissue contrast and the lack of ionizing radiation. It is important to recognize that despite its many advantages, several challenges to performing neonatal MRI arise from the lack of patient compliance and the small size of the anatomy. This manuscript presents the approach to patient preparation used at the authors' institution, summarizes general principles of image optimization and hardware selection, and reviews common indications across various organ systems. This manuscript also incorporates input from our pediatric-trained MRI technologists, in an attempt to compile a practical guideline covering all major aspects of neonatal MRI, from its execution to its interpretation.


Subject(s)
Magnetic Resonance Imaging , Patient Compliance , Infant, Newborn , Child , Humans , Magnetic Resonance Imaging/methods
7.
Anticancer Res ; 42(2): 911-917, 2022 Feb.
Article in English | MEDLINE | ID: mdl-35093889

ABSTRACT

BACKGROUND/AIM: To identify the imaging and clinical features of hepatic neuroendocrine tumors (NETs) associated with peritumoral hyperintensity in the hepatobiliary phase of gadoxetic acid-enhanced magnetic resonance (MR) imaging. PATIENTS AND METHODS: Fifty-seven patients with hepatic NETs were enrolled. Based on the degree of peritumoral hyperintensity, patients were divided into three groups: group 0 (no peritumoral hyperintensity), group 1 (lower peritumoral hyperintensity), and group 2 (higher peritumoral hyperintensity). The imaging and clinical findings were compared among the three groups. RESULTS: Apparent diffusion coefficient (ADC) values of group 2 were significantly lower than those of group 0 and group 1. Atypical (cholangiocarcinoma-like) enhancement pattern in the arterial phase was significantly more frequently observed in group 2 as compared to that in group 0 and group 1. Group 2 patients showed significantly poorer progression-free survival than group 0 patients. CONCLUSION: Hepatic NETs with greater peritumoral hyperintensity exhibit greater malignant potential.


Subject(s)
Diffusion Magnetic Resonance Imaging , Liver Neoplasms/diagnostic imaging , Neuroendocrine Tumors/diagnostic imaging , Adult , Aged , Aged, 80 and over , Contrast Media , Diagnosis, Differential , Female , Gadolinium DTPA , Humans , Image Enhancement , Liver Neoplasms/pathology , Male , Middle Aged , Neuroendocrine Tumors/pathology , Progression-Free Survival
8.
Jpn J Radiol ; 40(3): 245-261, 2022 Mar.
Article in English | MEDLINE | ID: mdl-34693503

ABSTRACT

Skeletal dysplasia encompasses a heterogeneous group of over 400 genetic disorders. They are individually rare, but collectively rather common with an approximate incidence of 1/5000. Thus, radiologists occasionally encounter skeletal dysplasias in their daily practices, and the topic is commonly brought up in radiology board examinations across the world. However, many radiologists and trainees struggle with this issue because of the lack of proper resources. The radiological diagnosis of skeletal dysplasias primarily rests on pattern recognition-a method that is often called the "Aunt Minnie" approach. Most skeletal dysplasias have an identifiable pattern of skeletal changes composed of unique findings and even pathognomonic findings. Thus, skeletal dysplasias are the best example to which the Aunt Minnie approach is readily applicable.


Subject(s)
Osteochondrodysplasias , Humans , Osteochondrodysplasias/diagnostic imaging , Radiography
9.
Pediatr Radiol ; 52(3): 453-459, 2022 03.
Article in English | MEDLINE | ID: mdl-34626197

ABSTRACT

BACKGROUND: The causes of idiopathic ileocolic intussusception are unknown, with infection as the most likely culprit. Recently, social distancing measures were implemented during the coronavirus disease 2019 (COVID-19) pandemic to decrease transmissible infectious diseases, creating an opportune setting to study the role of infection on the pathogenesis of intussusception on a population level. OBJECTIVE: To investigate the impact of social distancing on intussusception. MATERIALS AND METHODS: We retrospectively reviewed air contrast enemas and pylorus ultrasounds performed between March 2010 and March 2021 to identify cases of ileocolic intussusception and hypertrophic pyloric stenosis (HPS), using the latter as a negative control. The study time frame was divided into two periods: pre-pandemic (March 2010-February 2020) and pandemic (April 2020-March 2021). The number of cases that occurred in these two time periods were compared using the Poisson regression model. RESULTS: Of the 407 cases of idiopathic ileocolic intussusception identified, 396 occurred in the pre-pandemic time period (mean = 39.6 per 12-month period) and 11 occurred in the 12-month pandemic time period. The mean monthly number of intussusceptions showed a decline of 72% (95% confidence interval [CI] 49-85%) between the pre-pandemic and pandemic time periods (3.3 vs. 0.9 monthly cases; P < 0.001). In contrast, the mean monthly number of HPS did not differ significantly (P = 0.19). CONCLUSION: Social distancing-imposed to curb the spread of infection during the COVID-19 pandemic-resulted in a significant decline in ileocolic intussusception, lending strong support to the theory that infection is the dominant cause of intussusception.


Subject(s)
COVID-19 , Intussusception , Child , Humans , Intussusception/diagnostic imaging , Intussusception/epidemiology , Pandemics , Physical Distancing , Retrospective Studies , SARS-CoV-2
10.
Radiographics ; 42(1): 268-288, 2022.
Article in English | MEDLINE | ID: mdl-34826255

ABSTRACT

Kawasaki disease (KD) is a common pediatric vasculitis syndrome involving medium- and small-sized arteries that is especially prevalent in early childhood (ie, age 6 months to 5 years). The diagnosis of KD is made on the basis of clinical features, such as fever, characteristic mucocutaneous changes, and nonsuppurative cervical lymphadenopathy. However, early diagnosis is often challenging because many children with KD present with atypical symptoms. The most serious complication of KD is coronary artery aneurysm caused by coronary arteritis. Prompt intravenous immunoglobulin therapy reduces the risk of cardiac morbidity. In addition, the systemic extension of KD-related vasculitis during the acute phase causes a variety of multisystem manifestations, including encephalopathy, stroke, retropharyngeal edema, pericarditis, myocarditis, KD shock syndrome, pulmonary lesions, intestinal pseudo-obstruction, gallbladder hydrops, arthritis, and myositis. These complications tend to be more common in affected children with atypical presentation. Radiologists can play an important role in the timely identification of diverse KD-associated morbidities and thus may contribute to the early diagnosis of atypical KD. Online supplemental material is available for this article. ©RSNA, 2021.


Subject(s)
Coronary Aneurysm , Coronary Artery Disease , Mucocutaneous Lymph Node Syndrome , Child , Child, Preschool , Edema , Humans , Immunoglobulins, Intravenous/therapeutic use , Mucocutaneous Lymph Node Syndrome/complications , Mucocutaneous Lymph Node Syndrome/diagnostic imaging
11.
J Hum Genet ; 66(10): 995-1008, 2021 Oct.
Article in English | MEDLINE | ID: mdl-33875766

ABSTRACT

Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74 as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies.


Subject(s)
Bone Diseases, Developmental/genetics , Ciliopathies/genetics , Genetic Predisposition to Disease , Protein Isoforms/genetics , Adult , Aged , Bone Diseases, Developmental/epidemiology , Bone Diseases, Developmental/pathology , Ciliopathies/epidemiology , Ciliopathies/pathology , Cytoplasmic Dyneins/genetics , Cytoskeletal Proteins/genetics , Female , Genome, Human/genetics , High-Throughput Nucleotide Sequencing , Humans , Intercellular Signaling Peptides and Proteins/genetics , Intracellular Signaling Peptides and Proteins/genetics , Male , Membrane Proteins/genetics , Microtubule-Associated Proteins/genetics , Middle Aged , Muscle, Skeletal/metabolism , Muscle, Skeletal/pathology , Whole Genome Sequencing
12.
Radiographics ; 41(1): 192-209, 2021.
Article in English | MEDLINE | ID: mdl-33186059

ABSTRACT

Type II collagen is a major component of the cartilage matrix. Pathogenic variants (ie, disease-causing aberrations) in the type II collagen gene (COL2A1) lead to an abnormal structure of type II collagen, causing a large group of skeletal dysplasias termed type II collagenopathies. Because type II collagen is also located in the vitreous body of the eyes and inner ears, type II collagenopathies are commonly associated with vitreoretinal degeneration and hearing impairment. Type II collagenopathies can be radiologically divided into two major groups: the spondyloepiphyseal dysplasia congenita (SEDC) group and the Kniest-Stickler group. The SEDC group is characterized by delayed ossification of the juxtatruncal bones, including pear-shaped vertebrae. These collagenopathies comprise achondrogenesis type 2, hypochondrogenesis, SEDC, and other uncommon subtypes. The Kniest-Stickler group is characterized by disordered tubular bone growth that leads to "dumbbell" deformities. It comprises Kniest dysplasia and Stickler dysplasia type 1, whose radiographic manifestations overlap with those of type XI collagenopathies (a group of disorders due to abnormal type XI collagen) such as Stickler dysplasia types 2 and 3. This phenotypic overlap is caused by type II and type XI collagen molecules sharing part of the same connective tissues. The authors describe the diagnostic pathways to type II and type XI collagenopathies and the associated differential diagnoses. In addition, they review the clinical features and genetic bases of these conditions, which radiologists should know to participate in multidisciplinary care and translational research. Online supplemental material is available for this article. ©RSNA, 2020.


Subject(s)
Achondroplasia , Collagen Diseases , Hyaline Membrane Disease , Osteochondrodysplasias , Cartilage , Collagen Diseases/diagnostic imaging , Humans , Infant, Newborn , Osteochondrodysplasias/diagnostic imaging
13.
Seizure ; 80: 263-269, 2020 Aug.
Article in English | MEDLINE | ID: mdl-32471799

ABSTRACT

BACKGROUND: Previous studies have shown the healthcare utilization for medically refractory epilepsy and epilepsy surgery until 2012 with disparities according to race/ethnicity and socioeconomic status. To extend these data and add other utilization information, we retrospectively investigated the nationwide trends in hospitalization and readmission during 2010-2015. METHOD: We extracted data on inpatients who were diagnosed with epilepsy and those who received epilepsy surgery using the national inpatient sample and nationwide readmission database during 2010-2015. We estimated healthcare utilization related to pediatric epilepsy, the number of epilepsy surgeries, hospitalization rates and 30-day readmission rates. RESULTS: 100,000-120,000 children were hospitalized due to epilepsy each year. Hospitalization rates and 30-day readmission rates were 214.6-262.3 per 1000 patient-years and 72.4-78.0 per 1000 discharges, respectively. 1400-2000 children with epilepsy received epilepsy surgery, but the proportions of medically refractory epilepsy were estimated as 0.8 %-1.2 %. Disparities in patients receiving epilepsy surgery by race/ethnicity were observed during 2010-2012, but they were not after 2013. Children with higher household income levels had consistently higher proportions of receiving epilepsy surgery than those with lower levels. The hospitalization costs for epilepsy surgery were constant at $55,780-$60,813 after adjusting for healthcare cost inflation, whereas the cost for epilepsy were slightly elevated from $15,984 to $17,426. CONCLUSIONS: We provide novel insights into the current healthcare utilization for epilepsy and epilepsy surgery. Although the disparity of epilepsy surgery seemed to be mitigated, surgery in children with medically refractory epilepsy was still underutilized.


Subject(s)
Epilepsy , Patient Readmission , Child , Epilepsy/epidemiology , Epilepsy/surgery , Health Care Costs , Hospitalization , Humans , Retrospective Studies , United States/epidemiology
14.
Jpn J Radiol ; 38(3): 193-206, 2020 Mar.
Article in English | MEDLINE | ID: mdl-31965514

ABSTRACT

Ciliopathy encompasses a diverse group of autosomal recessive genetic disorders caused by mutations in genes coding for components of the primary cilia. Skeletal ciliopathy forms a subset of ciliopathies characterized by distinctive skeletal changes. Common skeletal ciliopathies include Jeune asphyxiating thoracic dysplasia, Ellis-van Creveld syndrome, Sensenbrenner syndrome, and short-rib polydactyly syndromes. These disorders share common clinical and radiological features. The clinical hallmarks comprise thoracic hypoplasia with respiratory failure, body disproportion with a normal trunk length and short limbs, and severely short digits occasionally accompanied by polydactyly. Reflecting the clinical features, the radiological hallmarks consist of a narrow thorax caused by extremely short ribs, normal or only mildly affected spine, shortening of the tubular bones, and severe brachydactyly with or without polydactyly. Other radiological clues include trident ilia/pelvis and cone-shaped epiphysis. Skeletal ciliopathies are commonly associated with extraskeletal anomalies, such as progressive renal degeneration, liver disease, retinopathy, cardiac anomalies, and cerebellar abnormalities. In this article, we discuss the radiological pattern recognition approach to skeletal ciliopathies. We also describe the clinical and genetic features of skeletal ciliopathies that the radiologists should know for them to play an appropriate role in multidisciplinary care and scientific advancement of these complicated disorders.


Subject(s)
Bone and Bones/abnormalities , Ciliopathies/diagnostic imaging , Craniosynostoses/diagnostic imaging , Dwarfism/diagnostic imaging , Ectodermal Dysplasia/diagnostic imaging , Ellis-Van Creveld Syndrome/diagnostic imaging , Image Interpretation, Computer-Assisted/methods , Osteochondrodysplasias/diagnostic imaging , Radiography/methods , Bone and Bones/diagnostic imaging , Female , Humans , Male
15.
Radiographics ; 39(7): 2085-2102, 2019.
Article in English | MEDLINE | ID: mdl-31697622

ABSTRACT

The neural crest is an important transient structure that develops during embryogenesis in vertebrates. Neural crest cells are multipotent progenitor cells that migrate and develop into a diverse range of cells and tissues throughout the body. Although neural crest cells originate from the ectoderm, they can differentiate into mesodermal-type or endodermal-type cells and tissues. Some of these tissues include the peripheral, autonomic, and enteric nervous systems; chromaffin cells of the adrenal medulla; smooth muscles of the intracranial blood vessels; melanocytes of the skin; cartilage and bones of the face; and parafollicular cells of the thyroid gland. Neurocristopathies are a group of diseases caused by the abnormal generation, migration, or differentiation of neural crest cells. They often involve multiple organ systems in a single person, are often familial, and can be associated with the development of neoplasms. As understanding of the neural crest has advanced, many seemingly disparate diseases, such Treacher Collins syndrome, 22q11.2 deletion syndrome, Hirschsprung disease, neuroblastoma, neurocutaneous melanocytosis, and neurofibromatosis, have come to be recognized as neurocristopathies. Neurocristopathies can be divided into three main categories: dysgenetic malformations, neoplasms, and combined dysgenetic and neoplastic syndromes. In this article, neural crest development, as well as several associated dysgenetic, neoplastic, and combined neurocristopathies, are reviewed. Neurocristopathies often have clinical manifestations in multiple organ systems, and radiologists are positioned to have significant roles in the initial diagnosis of these disorders, evaluation of subclinical associated lesions, creation of treatment plans, and patient follow-up. Online supplemental material is available for this article. ©RSNA, 2019.


Subject(s)
Congenital Abnormalities/embryology , Neoplasms/embryology , Neural Crest/pathology , 22q11 Deletion Syndrome/diagnostic imaging , 22q11 Deletion Syndrome/embryology , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/embryology , CHARGE Syndrome/diagnostic imaging , CHARGE Syndrome/embryology , Cell Lineage , Cell Movement , Congenital Abnormalities/diagnostic imaging , Diseases in Twins , Embryonic Development , Goldenhar Syndrome/diagnostic imaging , Goldenhar Syndrome/embryology , Hirschsprung Disease/diagnostic imaging , Hirschsprung Disease/embryology , Humans , Image Processing, Computer-Assisted , Imaging, Three-Dimensional , Mandibulofacial Dysostosis/diagnostic imaging , Mandibulofacial Dysostosis/embryology , Neoplasms/diagnostic imaging , Neoplastic Syndromes, Hereditary/diagnostic imaging , Neoplastic Syndromes, Hereditary/embryology , Neural Crest/embryology , Neuroblastoma/diagnostic imaging , Neuroblastoma/embryology , Neurocutaneous Syndromes/diagnostic imaging , Neurocutaneous Syndromes/embryology , Nevus, Pigmented/diagnostic imaging , Nevus, Pigmented/embryology , Skin Neoplasms/diagnostic imaging , Skin Neoplasms/embryology , Tomography, X-Ray Computed
16.
Pediatr Obes ; 14(12): e12566, 2019 12.
Article in English | MEDLINE | ID: mdl-31364316

ABSTRACT

BACKGROUND: Several studies have reported bisphenol A (BPA) as a potential risk factor for paediatric obesity, but the findings were inconsistent among these studies. METHODS: Using data from the National Health and Nutrition Examination Survey from 2003 to 2014, we conducted a serial cross-sectional study to examine the association between urinary BPA and paediatric obesity among children aged 6 and 19 years. The association between paediatric obesity and urinary BPA concentrations with or without urinary creatinine adjustments was assessed using multivariable regression and cubic spline models fitted for regression models. RESULTS: We observed decreasing trends in urinary BPA concentrations from 2003 to 2014. The associations between urinary BPA concentrations and obesity were inconsistent across the years of survey and even after different models for urinary creatinine adjustments were used. Children with obesity were positively associated with urinary creatinine concentrations, but was not with creatinine-adjusted models. Furthermore, children with higher urinary BPA concentrations had elevated odds of obesity during 2003 to 2008, whereas these associations were inconsistent during 2009 to 2014. CONCLUSIONS: The associations between paediatric obesity and urinary BPA concentrations differed across the years of survey and creatinine adjustments. Further studies are required to assess these discrepancies.


Subject(s)
Benzhydryl Compounds/urine , Pediatric Obesity/etiology , Phenols/urine , Adolescent , Adult , Child , Cross-Sectional Studies , Female , Humans , Male , Nutrition Surveys , Pediatric Obesity/urine , Risk Factors , Time Factors , Young Adult
17.
Pediatr Int ; 61(2): 122-139, 2019 Feb.
Article in English | MEDLINE | ID: mdl-30565795

ABSTRACT

Children with cancer are at increased risk of life-threatening emergencies, either from the cancer itself or related to the cancer treatment. These conditions need to be assessed and treated as early as possible to minimize morbidity and mortality. Cardiothoracic emergencies encompass a variety of pathologies, including pericardial effusion and cardiac tamponade, massive hemoptysis, superior vena cava syndrome, pulmonary embolism, and pneumonia. Abdominal emergencies include bowel obstruction, intussusception, perforation, tumor rupture, intestinal graft-versus-host disease, acute pancreatitis, neutropenic colitis, and obstructive uropathy. Radiology plays a vital role in the diagnosis of these emergencies. We here review the clinical features and imaging in pediatric patients with oncologic emergencies, including a review of recently published studies. Key radiological images are presented to highlight the radiological approach to diagnosis. Pediatricians, pediatric surgeons, and pediatric radiologists need to work together to arrive at the correct diagnosis and to ensure prompt and appropriate treatment strategies.


Subject(s)
Cardiovascular Diseases/diagnosis , Gastrointestinal Diseases/diagnosis , Neoplasms/complications , Cardiovascular Diseases/etiology , Child , Emergencies , Gastrointestinal Diseases/etiology , Humans , Magnetic Resonance Imaging , Pediatrics , Tomography, X-Ray Computed , Ultrasonography
18.
Seizure ; 61: 149-152, 2018 Oct.
Article in English | MEDLINE | ID: mdl-30153626

ABSTRACT

PURPOSE: Several studies reported recent trends in febrile seizure (FS) in terms of prevalence, incidence, and hospitalization rates at a national level in the USA. However, no studies have revealed risk factors for repeated admissions due to FS. METHOD: We extracted discharge records of patients with FS aged < 6 years for the years 2010-14 using the Nationwide Readmission. Data were weighted to estimate the readmission rates and ascertain the factors associated with readmission due to FS, using multivariable negative binomial regression and Cox proportional hazard models. RESULTS: The readmission rate of FS is approximately 3.45 cases per 1000 person-months after hospital discharge. Children aged 1-3 years had elevated rate of FS readmission with a peak age of 2 (adjusted IRR, 5.09; 95%CI, 2.25-11.5). Boys had 1.75 times higher rates of FS readmission than girls (95%CI, 1.13-2.70). Children with very-low income levels were more likely to be readmitted, compared to those with very-high income levels (adjusted IRR, 2.57; 95%CI, 1.39-4.76). CONCLUSIONS: We provided novel insights into the current epidemiology of children with FS and risk factors associated with FS readmissions.


Subject(s)
Patient Readmission/statistics & numerical data , Seizures, Febrile/epidemiology , Child , Child, Preschool , Female , Health Surveys , Humans , Infant , Infant, Newborn , Longitudinal Studies , Male , Prevalence , Regression Analysis , Retrospective Studies , Risk Factors , Seizures, Febrile/diagnosis , United States
19.
Pediatr Crit Care Med ; 19(9): 801-809, 2018 09.
Article in English | MEDLINE | ID: mdl-29923940

ABSTRACT

OBJECTIVES: Acute chest syndrome is the leading cause of death in children with sickle cell disease and is generally due to respiratory failure. Epidemiologic factors for a need for mechanical ventilation in children with acute chest syndrome require further clarification. DESIGN: Retrospective observational study. SETTING: Nationally representative pediatric inpatient records in the United States by using the Kids' Inpatient Database for the years 2003, 2006, 2009, and 2012. PATIENTS: Patients age less than 20 years old with a discharge diagnosis of acute chest syndrome. MEASUREMENTS AND MARIN RESULTS: Data were weighted to estimate annual hospitalizations according to hospital characteristics in the United States. Multivariable logistic regression was conducted to ascertain factors associated with use of mechanical ventilation, after adjusting for patient and hospital characteristics. Total hospitalizations for acute chest syndrome were 5,018 in 2003, 6,058 in 2006, 6,072 in 2009, and 6,360 in 2012. Mechanical ventilation use was associated with comorbidities of obesity (odds ratio, 3.35; 95% CI, 1.94-5.78), obstructive sleep apnea (odds ratio, 3.72; 95% CI, 2.23-6.20), and heart disease (odds ratio, 2.19; 95% CI, 1.47-3.27). In addition, nonblack compared with black children (odds ratio, 1.53; 95% CI, 1.02-2.31) and the fall season (p = 0.018) were associated with mechanical ventilation use. CONCLUSIONS: Comorbidity of obesity, obstructive sleep apnea, or heart disease could be potentially associated with mechanical ventilation use during an episode of acute chest syndrome. Prospective observational studies would be required to confirm these findings and infer potential interventions for preventing illness severity.


Subject(s)
Acute Chest Syndrome/therapy , Anemia, Sickle Cell/therapy , Respiration, Artificial/statistics & numerical data , Acute Chest Syndrome/epidemiology , Acute Chest Syndrome/etiology , Adolescent , Anemia, Sickle Cell/complications , Anemia, Sickle Cell/epidemiology , Blood Transfusion/statistics & numerical data , Child , Child, Preschool , Comorbidity , Databases, Factual , Female , Humans , Infant , Infant, Newborn , Length of Stay/economics , Length of Stay/statistics & numerical data , Male , Patient Admission/statistics & numerical data , Retrospective Studies , Severity of Illness Index , Young Adult
20.
Insights Imaging ; 9(3): 313-324, 2018 Jun.
Article in English | MEDLINE | ID: mdl-29766473

ABSTRACT

Neurological complications of paediatric cancers are a substantial problem. Complications can be primary from central nervous system (CNS) spread or secondary from indirect or remote effects of cancer, as well as cancer treatments such as chemotherapy and radiation therapy. In this review, we present the clinical and imaging findings of rare but important neurological complications in paediatric patients with cancer. Neurological complications are classified into three phases: pre-treatment, treatment and post-remission. Paraneoplastic neurological syndromes, hyperviscosity syndrome, haemophagocytic lymphohistiocytosis and infection are found in the pre-treatment phase, while Trousseau's syndrome, posterior reversible encephalopathy syndrome and methotrexate neurotoxicity are found in the treatment phase; though some complications overlap between the pre-treatment and treatment phases. Hippocampal sclerosis, radiation induced tumour, radiation induced focal haemosiderin deposition and radiation-induced white matter injury are found in the post-remission phase. With increasingly long survival after treatment, CNS complications have become more common. It is critical for radiologists to recognise neurological complications related to paediatric cancer or treatment. Magnetic resonance imaging (MRI) plays a significant role in the recognition and proper management of the neurological complications of paediatric cancer. TEACHING POINTS: • Neurological complications of paediatric cancer include various entities. • Neurological complications are classified into three phases: pre-treatment, treatment and post-remission. • Radiologists should be familiar with clinical and imaging findings of neurological complications. • MRI features may be characteristic and lead to early diagnosis and proper treatments.

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