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.
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.
A primer on skeletal dysplasias Handa, Atsuhiko; Nishimura, Gen; Zhan, Malia Xin ...
Japanese journal of radiology,
03/2022, Volume:
40, Issue:
3
Journal Article
Peer reviewed
Open access
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.
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.
•A decreasing trend in hospitalization rates due to FS was observed from 2003 to 2012.•Race/ethnicity and geographic location were associated with severity of febrile seizure.•Age, gender, and ...socioeconomic factors were not associated with FS severity.•Pandemic of influenza in 2003 may have modified hospitalization rates due to febrile seizure.
Several studies have reported the prevalence and incidence of febrile seizure (FS) among children in the USA and other countries. However, recent trends in FS among hospitalized children, hospital course, and risk factors for its severity remain unknown at a national level in the USA.
Hospital discharge records of patients with FS aged <6years were obtained for the years 2003, 2006, 2009, and 2012 from the Kid’s Inpatient Database. Data were weighted to estimate the annual hospitalization rates with respect to gender and race/ethnicity in the United States. Multivariable logistic regression was conducted to ascertain factors associated with FS severity.
A decreasing trend in total annual hospitalization rates due to FS was observed, ranging from 59.0 per 100,000 children in 2003 to 40.8 per 100,000 children in 2012 (p < 0.001). Winter predominance of hospitalizations was observed (p = 0.001). Hispanic children and children admitted to hospitals in northeast region were less likely to be severely affected. Age, gender, health insurance status, and household income level were not associated with FS severity.
Total hospitalization rates due FS is decreasing, and race/ethnicity and geographic locations of the patients were associated with FS severity.
Several studies have reported the epidemiology of immune thrombocytopenia (ITP) among children in the United States and other countries. However, recent trends in ITP among hospitalized children and ...hospital course remain unknown at a national level in the United States.
Hospital discharge records of patients with ITP aged 19 years and younger were obtained for the years 2003, 2006, 2009, and 2012 using the Kids' Inpatient Database. Data were weighted to estimate the annual hospitalization rates in the United States with trend analyses. Multivariable regression models were used to ascertain trends of health care utilizations, hospitalization costs, and length of stay.
Total annual hospitalization rates due to ITP ranged from 6.13 per 100,000 children in 2003 to 6.22 per 100,000 children in 2012 (Ptrend=0.86). The lowest proportions of hospitalizations were observed in August. The proportions of inpatients treated with intravenous immunoglobulin increased from 18.5% in 2003 to 39.9% (Ptrend< 0.001), while those examined with bone marrow aspiration decreased from 7.8% in 2003 to 6.5% in 2012 (Ptrend=0.01). Total hospitalization costs and length of stay changed from $6147 and 3.78 days in 2003 to $9328 and 2.55 days in 2012.
We provided insights of epidemiology of ITP and health care utilizations in the United States. Further studies, including cost-effective analyses, will be required to justify the increasing trends in health care costs and intravenous immunoglobulin.
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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