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Case Report: Carnitine Palmitoyl Transferase II (CPT II) Deficiency

Open Journal of internal medicine 2024年第1期14卷 93-101页

作者： Kathy Po Marius Chivu Edwin Rosas Balpreet Kaur department of internal medicine Saint James School of Medicine The Quarter Anguilla department of internal medicine Medicine at University of Chicago Chicago USA department of internal medicine Medical College of Wisconsin Wisconsin USA

Carnitine Palmitoyl Transferase II (CPTII) is a very important enzyme that helps with the oxidation of long-chain fatty acid to produce energy. Deficiency in CPTII will lead to energy deficiency in the case of fasting and the accumulation of the long chain fatty in the body. There are three types of CPT II deficiency, the myopathic form, the severe infantile hepatocardiomuscular form and the lethal neonatal form. They are all inherited as an autosomal recessive. Diagnosis of the CPTII are 1) tandem mass spectrometry (MS/MS) in adult form and 2) CPTII polymorphism (f352C), which is linked to reducing the activity of CPTII in infantile form [1]. glucose is the primary management and medium-chain fatty acid is an alternative due to the bypass of the CPTII enzyme in the pathway. for the prevention of CPTII deficiency are to avoid long chain fatty acid (C12-fatty acid), fasting, prolonged exercise, known triggers, and certain medications such as anti-epileptics and general anesthesia. During the rhabdomyolysis and myoglobinuria attack, it is very important to maintain hydration to avoid acute renal failure. If, however, renal failure occurs, dialysis is recommended. We present a case of a 27-year-old African American woman with the significant past medical history of CPT II deficiency leading to recurrent rhabdomyolysis and myoglobinuria. Together with all the research studies from diagnosis to treatment of CPTII deficiency will help in clinical management of patients. And this case report will add to the existing case reports of patients who have CPTII deficiency in terms of how we diagnose, how we treat, and how we prevent symptoms from re-occurring.

关键词： Carnitine Palmitoyl Transferase II (CPTII) Mitochondria Long Chain fatty Acid Medium Chain fatty Acid Carnitine Carnitine Palmitoyl Transferase I (CPTI) Acyl-Carnitine Beta-Oxidation Rhabdomyolysis Myoglobinuria Renal failure Hypoketotic Hypoglycemia

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Epidemiology,therapy and outcome of hepatocellular carcinoma between 2010 and 2019 in Piedmont,Italy

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World Journal of gastrointestinal Oncology 2024年第3期16卷 761-772页

作者： Christian Bracco Marta gallarate Marco Badinella Martini Corrado Magnino Salvatore D'Agnano Roberta Canta giulia Racca Remo Melchio Cristina Serraino Valentina Polla Mattiot giovanni gollè Luigi fenoglio department of internal medicine Santa Croce e Carle General HospitalCuneo 12100Italy department of Medical Sciences "City of Health and Science"University HospitalTorino 10100Italy

BACKgROUND Hepatocellular carcinoma(HCC)is the most common primary liver malignancy and the second leading cause of cancer deaths *** is often diagnosed at an advanced stage and therefore its prognosis remains poor with a low 5-year survival *** patients have increasingly complex and constantly changing characteristics,thus up-to-date and comprehensive data are *** To analyze the epidemiology and main clinical characteristics of HCC patients in a referral center hospital in the northwest of Italy between 2010 and *** In this retrospective study,we analyzed the clinical data of all consecutive patients with a new diagnosis of HCC recorded at"Santa Croce e Carle"Hospital in Cuneo(Italy)between 1 January 2010 and 31 December *** highlight possible changes in HCC patterns over the 10-year period,we split the population into two 5-year groups,according to the diagnosis period(2010-2014 and 2015-2019).RESULTS Of the 328 HCC patients who were included(M/f 255/73;mean age 68.9±11.3 years),154 in the first period,and 174 in the *** C virus infection was the most common HCC risk factor(41%,135 patients).The alcoholic etiology rate was 18%,the hepatitis B virus infection etiology was 5%,and the non-viral/non-alcoholic etiology rate was 22%.The Child-Pugh score distribution of the patients was:class A 75%,class B 21%and class C 4%.The average Mayo end-stage liver disease score was 10.6±3.7.A total of 55 patients(17%)were affected by portal vein thrombosis and 158(48%)by portal *** average nodule size of the HCC was 4.6±3.1 cm.A total of 204 patients(63%)had more than one nodulege of the *** Barcelona Clinic Liver Cancer(BCLC)staging distribution of all patients was:4%very early,32%early,23%intermediate,34%advanced,and 7%*** survival rate was 1.6±0.3 *** 20%of the patients underwent ***,presence of ascites,BCLC stage and therapy w

关键词： Hepatocellular carcinoma Hepatitis virus Alcoholic hepatitis Non-alcoholic fatty liver disease Diagnosis Etiology Treatment

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Health behavior outcomes in stroke survivors prescribed wearables for atrial fibrillation detection stratified by age

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Journal of geriatric Cardiology 2024年第3期21卷 323-330页

作者： Joanne Mathew Jordy Mehawej Ziyue Wang Taylor Orwig Eric Ding Andreas filippaios Syed Naeem Edith Mensah Otabil Alex Hamel Kamran Noorishirazi IrinaRadu Jane Saczynski David D.McManus Khanh-Van Tran Division of Cardiovascular medicine Department of MedicineUniversity of Massachusetts Chan Medical SchoolLake Avenue NorthWorcesterUSA department of internal medicine Central Michigan UniversityMount PleasantUSA department of Pharmacy and Health Systems Sciences School of PharmacyNortheastern UniversityBostonUSA department of Population and Quantitative Health Sciences University of Massachusetts Chan Medical SchoolLake Avenue NorthWorcesterUSA

BACKgROUND Smartwatches have become readily accessible tools for detecting atrial fibrillation(Af).There remains limited data on how they affect psychosocial outcomes and engagement in older *** examine the health behavior outcomes of stroke survivors prescribed smartwatches for Af detection stratified by *** We analyzed data from the Pulsewatch study,a randomized controlled trial that enrolled patients(≥50 years)with a history of stroke or transient ischemic attack and CHA2DS2-VASc≥*** participants were equipped with a cardiac patch monitor and a smartwatch-app dyad,while control participants wore the cardiac patch monitor for up to 44 *** evaluated health behavior parameters using standardized tools,including the Consumer Health Activation Index,the generalized Anxiety Disorder questionnaire,the 12-Item Short form Health Survey,and wear time of participants categorized into three age groups:group 1(ages 50-60),group 2(ages 61-69),and group 3(ages 70-87).We performed statistical analysis using a mixedeffects repeated measures linear regression model to examine differences amongst age *** Comparative analysis between groups 1,2 and 3 revealed no significant differences in anxiety,patient activation,perception of physical health and wear *** use of smartwatch technology was associated with a decrease in perception of mental health for group 2 compared to group 1(β=-3.29,P=0.046).CONCLUSION Stroke survivors demonstrated a willingness to use smartwatches for Af ***,among these study participants,the majority did not experience negative health behavior outcomes or decreased engagement as age increased.

关键词： prescribed stratified wear

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Value of glucose transport protein 1 expression in detecting lymph node metastasis in patients with colorectal cancer

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World Journal of Clinical Cases 2024年第5期12卷 931-941页

作者： Hongsik Kim Song-Yi Choi Tae-Young Heo Kyeong-Rok Kim Jisun Lee Min Young Yoo Taek-gu Lee Joung-Ho Han department of internal medicine Chungbuk National University HospitalCheongju 28644South Korea department of Pathology Chungnam National University College of MedicineDaejeon 35015South Korea Information and Statistics Chungbuk National UniversityCheongju 28644South Korea department of Radiology College of MedicineChungbuk National UniversityChungbuk National University HospitalCheongju-si 28644South Korea department of Nuclear medicine School of MedicineInha UniversityIncheon 22332South Korea department of Surgery Chungbuk National UniversityCollege of MedicineCheongju-si 28644South Korea department of internal Medicen Chungbuk National UniversityCollege of medicineCheongju-si 28644South Korea

BACKgROUND There are limited data on the use of glucose transport protein 1(gLUT-1)expre-ssion as a biomarker for predicting lymph node metastasis in patients with colorectal ***-1 and gLUT-3,hexokinase(HK)-II,and hypoxia-induced factor(HIf)-1 expressions may be useful biomarkers for detecting primary tumors and lymph node metastasis when combined with fluorodeoxyglucose(fDg)uptake on positron emission tomography/computed tomography(PET/CT).AIM To evaluate gLUT-1,gLUT-3,HK-II,and HIf-1 expressions as biomarkers for detecting primary tumors and lymph node metastasis with 18f-fDg-PET/*** This retrospective study included 169 patients with colorectal cancer who underwent colectomy and preoperative 18f-fDg-PET/CT at Chungbuk National University Hospital between January 2009 and May *** tissue cores from the central and peripheral areas of the tumors were obtained and were examined by a dedicated pathologist,and the expressions of gLUT-1,gLUT-3,HK-II,and HIf-1 were determined using immunohisto-chemical *** analyzed the correlations among their expressions,various clinicopathological factors,and the maximum standardized uptake value(SUVmax)of PET/*** gLUT-1 was found at the center or periphery of the tumors in 109(64.5%)of the 169 ***-1 positivity was significantly correlated with the SUVmax of the primary tumor and lymph nodes,regardless of the biopsy site(tumor center,PgLUT-1 positivity and negativity were associated with higher and lower sensitivities of PET/CT,respectively,for the detection of lymph node metastasis,regardless of the biopsy ***3,HK-II,and HIf-1 expressions were not significantly correlated with the SUVmax of the primary tumor and lymph *** gLUT-1 expression was significantly correlated with the SUVmax of 18f-fDg-PET/CT for primary tumors and lymph *** should consider gLUT-1 expression in preoperative endoscop

关键词： 18f-fDg-PET-CT Biomarker Colorectal neoplasms glucose transporter type 1 Lymph node

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Endoscopic ultrasound-guided tissue sampling induced pancreatic duct leak resolved by the placement of a pancreatic stent:A case report

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World Journal of Clinical Cases 2024年第9期12卷 1677-1684页

作者： Ki-Hyun Kim Chang Hwan Park Eunae Cho Yohan Lee department of internal medicine Chonnam National University HospitalGwangju 61469South Korea department of gastroenterology Chonnam National University HospitalGwangju 61469South Korea

BACKgROUND Pancreatic ductal leaks complicated by endoscopic ultrasonography-guided tissue sampling(EUS-TS)can manifest as acute *** SUMMARY A 63-year-old man presented with persistent abdominal pain and weight ***:Laboratory findings revealed elevated carbohydrate antigen 19-9(5920 U/mL)and carcinoembryonic antigen(23.7 ng/mL)*** resonance imaging of the pancreas revealed an approximately 3 cm ill-defined space-occupying lesion in the inferior aspect of the head,with severe encasement of the superior mesenteric *** ductal adenocarcinoma was confirmed after pathological examination of specimens obtained by EUS-TS using the fanning *** and outcomes:The following day,the patient experienced severe abdominal pain with high amylase(265 U/L)and lipase(1173 U/L)*** tomography of the abdomen revealed edematous wall thickening of the second portion of the duodenum with adjacent fluid collections and a suspicious leak from either the distal common bile duct or the main pancreatic duct in the *** retrograde cholangiopancreatography revealed dye leakage in the head of the main pancreatic ***,a 5f 7 cm linear plastic stent was deployed into the pancreatic duct to divert the pancreatic *** patient’s abdominal pain improved immediately after pancreatic stent insertion,and amylase and lipase levels normalized within a *** chemotherapy was then *** Using the fanning method in EUS-TS can inadvertently cause damage to the pancreatic duct and may lead to clinically significant *** a pancreatic stent may immediately resolve acute pancreatitis and shorten the waiting time for curative *** using the fanning method during EUSTS,ductal structures should be excluded to prevent pancreatic ductal leakage.

关键词： Endoscopic ultrasound-guided tissue sampling Pancreatitis Pancreatic duct leak Pancreatic stent Case report

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Selective internal radiation therapy segmentectomy:A new minimally invasive curative option for primary liver malignancies?

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World Journal of gastroenterology 2024年第18期30卷 2379-2386页

作者： Riccardo Inchingolo francesco Cortese Antonio Rosario Pisani fabrizio Acquafredda Roberto Calbi Riccardo Memeo fotis Anagnostopoulos Stavros Spiliopoulos Unit of Interventional Radiology “F.Miulli”Regional General HospitalBari 70021Italy Interdisciplinary department of medicine Section of Nuclear MedicineUniversity of Bari“Aldo Moro”Bari 70121Italy department of Radiology General Regional Hospital“F.Miulli”Acquaviva delle Fonti 70021Italy Unit of Hepato-Pancreatic-Biliary Surgery “F.Miulli”Regional General HospitalBari 70021Italy The Second Radiology department National and Kapodistrian University of AthensChaidari Athens 12461Greece

Transarterial radioembolization or selective internal radiation therapy(SIRT)has emerged as a minimally invasive approach for the treatment of *** percutaneous technique involves the local,intra-arterial delivery of radioactive microspheres directly into the *** employed as a palliative measure for liver malignancies,SIRT has gained traction over the past decade as a potential curative option,mirroring the increasing role of radiation *** latest update of the BCLC hepatocellular carcinoma guidelines recognizes SIRT as an effective treatment modality comparable to other local ablative methods,particularly well-suited for patients where surgical resection or ablation is not *** segmentectomy is a more selective approach,aiming to deliver high-dose radiation to one to three specific hepatic segments,while minimizing damage to surrounding healthy *** research efforts in radiation segmentectomy should prioritize optimizing radiation dosimetry and refining the technique for super-selective administration of radiospheres within the designated hepatic segments.

关键词： Transarterial radioembolization Selective internal radiation therapy Radiation segmentectomy Hepatocellular carcinoma Primary liver malignancies Personalised dosimetry

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Viral Hepatitis B and C: Epidemiological, Clinical and Paraclinical Aspects in the internal medicine department of KARA University Hospital in Togo

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Open Journal of internal medicine 2024年第1期14卷 131-139页

作者： Lihanimpo Djalogue Mossi Komi Edem El Hadj Yacoubou Tchamdja Toyi Djagadou Kodjo Agbeko Balaka Abago Djibril Mohaman Awalou internal medicine department University of Kara Kara Togo internal medicine department University of Lome Lome Togo Hepato-gastroenterology department University of Kara Lomé Togo

Introduction: Viral hepatitis B and C constitute real public health problems worldwide. The objective of this work was to describe the epidemiological, clinical and paraclinical aspects of viral hepatitis B and c in the internal medicine department of Kara University Hospital. Method: this was a retrospective descriptive study carried out in the internal medicine department of Kara University Hospital, over a period of 3 years from March 2020 to April 2023. It included all patients seen in consultation or hospitalized for hepatitis viral B and/or C. Results: A total of 57 patients were included in our study. The average age was 44.30 years ± 16.75 and the M/f sex ratio was 1.38. Married people were in the majority 63.2%. The circumstances of the discovery of viral hepatitis B and C were dominated by abdominal pain in 35.1% of cases and hepatomegaly in 29.8% of cases and in 33.3% of cases, it was during screening voluntary. Patients with viral hepatitis B only accounted for 64.9% of cases;those with only viral hepatitis C represented 31.6% of cases and 3.5% of cases had HVB/HCV co-infection. We recorded 36.8% complications including 52.4% liver cirrhosis and 47.6% hepatocellular carcinomas. During the evolution, there were 03 deaths. Conclusion: the prevalence of hepatitis B and C virus carriage in patients followed in internal medicine at Kara University Hospital is high. It is therefore essential to put in place treatment and prevention strategies against these viruses.

关键词： Hepatitis B Hepatitis C internal medicine Kara University Hospital

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Inflammation as a cause of acute myocardial infarction in patients with myeloproliferative neoplasm

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World Journal of Cardiology 2024年第2期16卷 58-63页

作者： Amedeo Tirandi Elisa Schiavetta Elia Maioli fabrizio Montecucco Luca Liberale department of internal medicine University of GenoaGenoa 16132Italy IRCCS Ospedale Policlinico San Martino Genoa–Italian Cardiovascular NetworkGenoa 16132Italy

Myeloproliferative neoplasms(MPN)are a group of diseases characterized by the clonal proliferation of hematopoietic progenitor or stem *** are clinically classifiable into four main diseases:chronic myeloid leukemia,essential thrombocythemia,polycythemia vera,and primary *** pathologies are closely related to cardio-and cerebrovascular diseases due to the increased risk of arterial thrombosis,the most common underlying cause of acute myocardial *** evidence shows that the classical Virchow triad(hypercoagulability,blood stasis,endothelial injury)might offer an explanation for such ***,patients with MPN might have a higher number and more reactive circulating platelets and leukocytes,a tendency toward blood stasis because of a high number of circulating red blood cells,endothelial injury or overactivation as a consequence of sustained inflammation caused by the neoplastic clonal *** abnormal cancer cells,especially when associated with the JAK2V617f mutation,tend to proliferate and secrete several inflammatory *** sustains a pro-inflammatory state throughout the *** direct consequence is the induction of a pro-thrombotic state that acts as a determinant in favoring both venous and arterial thrombus ***,MPN patients need to be carefully evaluated to be treated not only with cytoreductive treatments but also with cardiovascular protective strategies.

关键词： Inflammation Myeloproliferative neoplasm Acute coronary syndrome Myocardial infarction Thrombosis Cancer

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Intra-articular interventions in osteoarthritis:Navigating the landscape of hyaluronic acid,mesenchymal stem cells,and plateletrich plasma

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World Journal of Orthopedics 2024年第8期15卷 704-712页

作者： Somar Soufan Joenne Al Khoury Zahi Hamdan Mohamad Ali Rida department of medicine University of BalamandBeirut 00000Lebanon department of internal medicine Clemenceau Medical CenterBeirut 12345Lebanon

Osteoarthritis(OA)poses a substantial burden on patients,leading to pain,functional decline,and reduced quality of *** conventional treatments focus on symptom management,disease-modifying interventions are yet to be *** review explores the efficacy of intra-articular interventions,particularly hyaluronic acid(HA),mesenchymal stem cells(MSCs),and platelet-rich plasma(PRP),in the context of OA *** injections,with diverse formulations like Hylan g.f.0,sodium hyaluronate,and hyaluronan,present varying outcomes,necessitating a nuanced understanding of their effectiveness and *** therapy,derived from adipose tissue,umbilical cord,or bone marrow,shows promising results in clinical improvement,with adipose-derived MSCs demonstrating efficacy in maintaining benefits over 6 ***,bone-marrow-derived MSCs show limited effectiveness,highlighting the need for sourcespecific *** has emerged as a superior option for long-term pain reduction and quality of life improvement,with leukocyte-poor formulations and a critical platelet count of 10 billion demonstrating optimal *** comprehensive analysis underscores the potential of intra-articular interventions in OA management,emphasizing the need for personalized and evidence-based approaches to enhance treatment efficacy and patient outcomes.

关键词： Osteoarthritis,Viscosupplementation Platelets Hyaluronic acid Stem cell

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Etanercept-synthesizing adipose-derived stem cell secretome:A promising therapeutic option for inflammatory bowel disease

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World Journal of gastrointestinal Surgery 2024年第3期16卷 882-892页

作者： Say-June Kim Ok-Hee Kim Ha-Eun Hong Ji Hyeon Ju Do Sang Lee department of Surgery Seoul St.Mary’s HospitalCollege of Medicinethe Catholic University of KoreaSeoul 06591South Korea Catholic Central Laboratory of Surgery Institute of Biomedical IndustryCollege of Medicinethe Catholic University of KoreaSeoul 06591South Korea Division of Rheumatology Department of Internal MedicineSeoul St.Mary’s HospitalCollege of MedicineThe Catholic University of KoreaSeoul 06591South Korea

BACKgROUND Inflammatory bowel disease(IBD)is a chronic inflammatory condition of the gastrointestinal tract,with tumor necrosis factor(TNf)-αplaying a key role in its ***,a decoy receptor for TNf,is used to treat inflammatory *** secretome derived from adipose-derived stem cells(ASCs)has anti-inflammatory effects,making it a promising therapeutic option for *** To investigate the anti-inflammatory effects of the secretome obtained from ASCs synthesizing etanercept on colon cells and in a dextran sulfate sodium(DSS)-induced IBD mouse *** ASCs were transfected with etanercept-encoding mini-circle plasmids to create etanercept-producing *** secretory material from these cells was then tested for anti-inflammatory effects both in vitro and in a DSS-induced IBD mouse *** This study revealed promising results indicating that the group treated with the secretome derived from etanercept-synthesizing ASCs[Etanercept-Secretome(Et-Sec)group]had significantly lower expression levels of inflammatory mediators,such as interleukin-6,Monocyte Chemoattractant Protein-1,and TNf-α,when compared to the control secretome(Ct-Sec).Moreover,the Et-Sec group exhibited a marked therapeutic effect in terms of preserving the architecture of intestinal tissue compared to the *** These results suggest that the secretome derived from ASCs that synthesize etanercept has potential as a therapeutic agent for the treatment of IBD,potentially enhancing treatment efficacy by merging the anti-inflam-matory qualities of the ASC secretome with etanercept's targeted approach to better address the multifaceted pathophysiology of IBD.

关键词： Adipose-derived stem cells Etanercept Inflammatory bowel disease Secretome Tumor necrosis factor-α

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