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Nobuko Kojima,Tada Hayato,Akihiro Nomura,Soichiro Usui,Kenji Sakata,Kenshi Hayashi,Atsushi Nohara,Akihiro Inazu,Masa-aki Kawashiri,Masayuki Takamura 한국지질동맥경화학회 2024 지질·동맥경화학회지 Vol.13 No.1
ObjectiveSitosterolemia is a rare autosomal recessive disease caused by the deleterious variants of adenosine 5'-triphosphate (ATP)-binding cassette sub-family G member 5 (ABCG5) or ATP-binding cassette sub-family G member 8 (ABCG8). There are only few data on the pathogenicity of ABCG5 and ABCG8. This study aimed to propose a scheme for determining variant pathogenicity and to catalog the putative pathogenic variants in sitosterolemia. MethodsThis study enrolled 377 consecutive Japanese patients with hyper-low-density lipoprotein cholesterolemia (mean age: 46.5±19.8 years, with 192 men) who have targeted-sequenced data on ABCG5 or ABCG8 (among 21 Mendelian lipid genes for any dyslipidemias) and serum sitosterol levels at Kanazawa University Hospital from 2016 to 2021. Serum sitosterol levels were divided by 0.79 in patients treated with ezetimibe, accounting for the average reduction with this drug. ABCG5 or ABCG8 variants were defined as putative pathogenic if associated with serum sitosterol levels ≥5 µg/mL or homozygous if associated with serum sitosterol levels ≥10 µg/mL. ResultsTwenty-three ABCG5 or ABCG8 variants (16 missense, 2 nonsense, 2 frameshift, 2 deletion, and 1 splice mutation) were identified. Based on our definition, 11 putative pathogenic variants (median sitosterol level: 10.1 [6.5–17.1] µg/mL) were found in 36 individuals and 12 benign variants (median sitosterol: 3.5 [2.5–4.1] µg/mL) in 14 individuals. ConclusionThe scheme proposed for assessing the pathogenicity of genetic variations (ABCG5 and ABCG8) is useful. Using this scheme, 11 putative pathogenic, and 12 benign variants in ABCG5 or ABCG were classified.
Laparoscopic and Robotic Liver Resection Using Advanced 3D Liver Simulation Software
( Atsushi Sugioka ),( Yutaro Kato ),( Yoshinao Tanahashi ),( Tadashi Kagawa ),( Masayuki Kojima ),( Sanae Nakajima ),( Syo-ichiro Tsuji ),( Ichiro Uyama ) 대한간학회 2016 춘·추계 학술대회 (KASL) Vol.2016 No.1
Background: Minimally invasive liver resection including laparoscopic and robotic liver resection is a rapidly developing field withthe greatest potential. However, the spatial disorientation is one of the biggest issues that would increase the risk of dangerousbleeding and bile leakage. To overcome this issue, it is of crucial importance to standardize anatomical liver resection with extrahepaticGlissonean pedicle-first approach and to use advanced 3D liver simulation software that can visualize the Glissoneansystem.Methods: We proposed a novel concept of liver anatomy based on Laennec’s capsule that can standardize the extrahepaticGlissonean pedicle approach. Whereas Synapse 3D® is the first simulation software to use face recognition technology for clinical3D simulation and visualization of the Glissonean system are available since version 4.4.Results: Owing to the novel concept of liver anatomy, anatomical liver resection with extrahepatic Glissonean pedicle-first approachwas standardized and target area was well recognized prior to parenchymal dissection with minimal bleeding and bileleakage from the resecting plane. Preoperative 3D simulation and intraoperative navigation contributed to perform systematicanatomical liver resection without spatial disorientation even for the cases with anatomical abnormalities such as right-sidedligamentum teres.Conclusion: Minimally invasive liver resection including laparoscopic and robotic resection became safe and curable procedureswith the novel concept of liver anatomy and advanced 3D liver simulation.