Search
Search Results
-
The assessment of left ventricular volume and function in gated small animal 18F-FDG PET/CT imaging: a comparative study of three commercially available software tools
BackgroundSeveral software tools have been developed for gated PET imaging that use distinct algorithms to analyze tracer uptake, myocardial...
-
Model-based standardization using multiple imputation
BackgroundWhen studying the association between treatment and a clinical outcome, a parametric multivariable model of the conditional outcome...
-
Mobile MIM: a Portable Solution in Imaging
Clinicians experience various situations, such as peer consultation or tumor boards, in which they need to access and view radiologic studies without...
-
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
Disease-causing variants in HEPACAM are associated with megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A, MIM# 613,925, autosomal...
-
Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1
FAR1 (MIM *616107) is required for the reduction of fatty acyl CoAs to fatty alcohols which is important for plasmalogen biosynthesis. Recently,...
-
Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3
BackgroundBiallelic pathogenic variants in PIP5K1C (MIM #606,102) lead to lethal congenital contractural syndrome 3 (LCCS3, MIM #611,369), a rare...
-
Amyotrophic lateral sclerosis with upper motor neuron predominance: diagnostic accuracy of qualitative and quantitative susceptibility metrics in the precentral gyrus
ObjectiveThe study aims at comparing the diagnostic accuracy of qualitative and quantitative assessment of the susceptibility in the precentral gyrus...
-
Delineation of dual molecular diagnosis in patients with skeletal deformity
BackgroundSkeletal deformity is characterized by an abnormal anatomical structure of bone and cartilage. In our previous studies, we have found that...
-
Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study
BackgroundKabuki syndrome (KS) is a monogenic disorder leading to special facial features, mental retardation, and multiple system malformations....
-
Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities
Achondroplasia (ACH; MIM #100,800), caused by a heterozygous gain of function pathogenic variant in the fibroblast growth factor receptor 3 gene ( FGFR3...
-
Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient
BackgroundIntellectual developmental disorder with dysmorphic facies and ptosis (MIM #617333) is a very rare condition, characterized by more than...
-
Detection of acute ventilatory problems via magnetic induction in a newborn animal model
BackgroundMagnetic induction measurement (MIM) is a noninvasive method for the contactless registration of respiration in newborn piglets by using...
-
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis
BackgroundMultiple epiphyseal dysplasia-4 (MED-4, MIM 226900) is a rare autosomal recessive disease characterized by disproportionate height and...
-
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
BackgroundOptic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic...
-
Comparison of absorbed doses to the tumoral and non-tumoral liver in HCC patients undergoing 99mTc-MAA and 90Y-microspheres radioembolization
PurposeThis study aimed to determine the absorbed doses in the tumoral-liver and non-tumoral liver of hepatocellular carcinoma (HCC) patients...
-
Anatomical resection is useful for the treatment of primary solitary hepatocellular carcinoma with predicted microscopic vessel invasion and/or intrahepatic metastasis
PurposeThe aim of this study was to evaluate anatomical resection (AR) versus non-AR for primary solitary hepatocellular carcinoma (HCC) with...
-
Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant
Paired box protein 2 ( PAX2 ) gene variant causes renal coloboma syndrome (MIM#120330). Further, they are associated with focal segmental...
-
Voxel-based dosimetry predicting treatment response and related toxicity in HCC patients treated with resin-based Y90 radioembolization: a prospective, single-arm study
BackgroundThere is an increasing body of evidence indicating Y90 dose thresholds for tumor response and treatment-related toxicity. These thresholds...
-
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report
BackgroundRARS2 -related mitochondrial disorder is an autosomal recessive mitochondrial encephalopathy caused by biallelic pathogenic variants in the...
-
Correlation of Non-tumoral Liver Dose with Treatment-Related Adverse Events in Patients with Hepatocellular Carcinoma Treated with Glass-Based Yttrium-90 Radioembolization
PurposeTo evaluate the relationship between non-tumor liver (NTL) dose and adverse events (AE) in patients with hepatocellular carcinoma (HCC)...
