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| 1 | New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report显示文摘BACKGROUND Progressive familial intrahepatic cholestasis(PFIC)encompasses a group of autosomal recessive disorders with high morbidity and mortality.Variants in the gene encoding tight junction protein-2(TJP2)have been linked to PFIC type 4(PFIC4),which predominantly presents in childhood.However,there are only limited data from adults with TJP2-related PFIC4.We report a family with an autosomal recessive disorder with a novel variant in the TJP2 gene in adults with very variable expression of PFIC4.CASE SUMMARY The index patient presented at 19 years old with liver cirrhosis and variceal bleeding and was treated with endoscopic banding and beta-blockers.In 2018,he developed primary liver cancer that was treated with radiofrequency ablation followed by liver transplantation in 2019.Genetic testing revealed a novel homozygous TJP2 variant causing PFIC4(TJP2([NM_004817.3]:c.[3334C>T];[3334C>T])).The consanguineous family consists of the father and mother(both heterozygous)and their 12 children,of which five carry the variant in a homozygous state;however,these five siblings have highly variable expression of PFIC4.Two homozygous brothers had cirrhosis and portal hypertension at diagnosis at the ages of 19 and 36.Two other homozygous brothers,age 23 and 19,and the homozygous sister,age 21,have elevated liver enzymes but presently no cirrhosis,which may suggest an age-dependent penetrance.In addition,five sisters had severe and mild intrahepatic cholestasis of pregnancy and carry the TJP2 variant in a homozygous and heterozygous state,respectively.CONCLUSION This novel TJP2 variant is associated with PFIC4 causing severe liver disease with cirrhosis and primary liver cancer in adolescents/adults. | Chun-Shan Wei Naja Becher Jenny Blechingberg Friis Peter Ott Ida Vogel Henning Grønbæk | 2020 | World Journal of Gastroenterology2020，26，5： | 6 |
| 2 | Microstructures, hardening and tribological behaviors of tin matrix composites reinforced with SiC and Zn particles显示文摘In order to strengthen pure tin and improve its dry sliding resistance, Sn/SiC and Sn/Zn composites were fabricated via a powder metallurgy route. Microstructure,hardness and pin-on-disk wear resistance of pure tin and the fabricated composites were compared to those of Sn–7.5 Sb–3.5 Cu Babbitt alloy. The dominant wear mechanism at different applied loads was determined by analyzing worn surfaces and wear debris in each case. The results showed that the hardening effect of Zn was much higher than that of SiC. The hardening role of Zn in the tin matrix was ascribed to the direct load transfer mechanism. Microscopic studies of the worn surfaces revealed that the pure tin was susceptible to surface fatigue wear and plowing damage, depending on the normal load applied during the wear test. In the case of Sn/SiC composite and the Babbitt alloy, delamination wear mechanism resulting from subsurface crack propagation controlled the wear rate. While the highest hardness and the lowest coefficient of friction were obtained for the Babbitt alloy, the Sn/Zn composite exhibited the highest wear resistance at a constant applied load, indicating the importance of asperity contact type in the wear process. | Fatemeh Ghasemi Mohammad Moazami-Goudarzi Hamidreza Najafi | 2021 | Rare Metals2021，40，9： | 3 |
| 3 | Association of H . pylori Infection with Insulin Resistance and Metabolic Syndrome Among L ebanese Adults显示文摘 | Farah Naja Lara Nasreddine Nahla Hwalla Patricia Moghames Hikma Shoaib Maamoun Fatfat Abla Sibai Hala Gali‐Muhtasib | 2012 | Helicobacter2012，，6： | 2 |
| 4 | Sea Level and Gas Hydrate Controlled Catastrophic Sediment Failures of Amazon Fan显示文摘 | Mark M Naja M Bilal H | 1998 | Geology1998，26，12： | 1 |
| 5 | Simulations over south Asia using the Weather Research and Forecasting modelwith Chemistry(WRF-Chem):set-up and meteorological evaluation显示文摘 | KUMAR R NAJA M PFISTER G G | 2012 | Geoscientific Model Development2012，5，2： | 1 |
| 6 | Lead biosorption study with Rhizopus arrhizus using a metal-based titration technique显示文摘 | Naja G Mustin C Berthelin J | 2005 | Journal of Colloid and Interface Science2005，292，2： | 1 |
| 7 | Obesity is associated with insulin resistance and components of the metabolic syndrome in Lebanese adolescents显示文摘 | Nasreddine L Naja F Tabet M | 2012 | Ann Hum Bioi2012，39，2： | 1 |
| 8 | Seasonal variations in surface ozone and its precursors over an urban site in India显示文摘 | Lal S Naja M Subbaraya B H | 2000 | Atmospheric Environment2000，34，： | 1 |
| 9 | Repetitive occipital nerve blockade for cervicogenic headache: expanded case report of 47 adults显示文摘 | Naja ZM El Rajab M Al-Tannir MA | 2006 | Pain Pract2006，6，4： | 1 |
| 10 | Occipital nerve blockade for cervicogenie headache: a double blind randomized controlled clinical trial显示文摘 | Naja ZM El-Rajab M AI Tannir MA el al | 2006 | Pain Pract2006，6，2： | 1 |
| 11 | Sea-level and gas-hydrate controlled catastrophic sediment failures of Amazon Fan显示文摘 | Mark M Naja M Bilal H | 1998 | Geology1998，26，12： | 1 |
| 12 | Seasonal variations in sur- face ozone and its precursors over an urban site in India 显示文摘 | Lal S Naja M Subbaraya B H | 2000 | Atmospheric Environment2000，34，17： | 1 |
| 13 | Degradation of hexahydro-1, 3, 5-tfinitro-I, 3, 5-triazine ( RDX ) using zerovalent iron nanopartieles显示文摘 | NAJA G HALASZ A THIBOUTOT S | 2008 | Environ Sci Technol2008，42，12： | 1 |
| 14 | Sea-level and gas hydrate controlled catastrophic sediment failures of the Amazon Fan 显示文摘 | Maslin M Naja M Bilal H | 1998 | Geology1998，26，12： | 1 |
| 15 | Assessment of transport of two polyelectrolyte-stabilized zero-valent iron nanoparticles in porous media显示文摘 | RaychoudhuryT Naja G Ghoshal S | 2010 | Journal of Contaminant Hydrology2010，118，： | 1 |
| 16 | Repeated nerve blocks with clonidine, fentanyl and bupivacaine for trigeminal neuralgia显示文摘 | Naja MZ AI-Tannir M Naja H | 2006 | Anaesthesia2006，61，1： | 1 |
| 17 | Repetitive paravertebral nerve block using a catheter technique for pain relief in post- herpetic neuralgia显示文摘 | Naja Z M Maaliki H Al-tannir M A | 2006 | Brit J Anaesth2006，96，3： | 1 |
| 18 | Combined sciatic-paravertebral nerve block vs general anaesthesia for fractured hip of the elderly显示文摘 | Naja Z Elhassan MJ Khatib H | 2000 | Middle East J Anaesthesiol2000，15，5： | 1 |
| 19 | High complication rate after surgical treatment of ankle fractures显示文摘 | Naja B Lars E Marianne L | 2014 | Ugeskrift for Laeger2014，176，32： | 1 |
| 20 | Nerve-stimulator guidedparavertebral blockse vs general ansesthesia for breastsurgery:a pro-spective randomized trail显示文摘 | Naja MZ Zisde MF Lonnqvist PA | 2003 | Ew J Anamthemol2003，20，11： | 1 |
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