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Rare disease

#907755

18 May 2018 : Case report  Germany

Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms

Ali Canbay, Meike N. Müller, Stathis Philippou, Guido Gerken, Andreas Tromm

DOI: 10.12659/AJCR.907755

Am J Case Rep 2018; 19:577-581

2,999 1,433 0

#907755

18 May 2018 : Case report  Germany

Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms

Ali Canbay, Meike N. Müller, Stathis Philippou, Guido Gerken, Andreas Tromm

DOI: 10.12659/AJCR.907755

Am J Case Rep 2018; 19:577-581

2999 1433 0

#909131

10 May 2018 : Case report  Brazil

A Case of Perforated Jejunal Diverticulum: An Unexpected Cause of Pneumoperitoneum in a Patient Presenting with an Acute Abdomen

Bruno Augusto Alves Martins, Rosana Rodrigues Galletti, Júlio Marinho dos Santos Neto, Caroline Neiva Mendes

DOI: 10.12659/AJCR.909131

Am J Case Rep 2018; 19:549-552

2,634 906 0

#909131

10 May 2018 : Case report  Brazil

A Case of Perforated Jejunal Diverticulum: An Unexpected Cause of Pneumoperitoneum in a Patient Presenting with an Acute Abdomen

Bruno Augusto Alves Martins, Rosana Rodrigues Galletti, Júlio Marinho dos Santos Neto, Caroline Neiva Mendes

DOI: 10.12659/AJCR.909131

Am J Case Rep 2018; 19:549-552

2634 906 0

#908232

09 May 2018 : Case report  USA

A Rare Case of Complete Esophageal Obstruction Following Esophageal Variceal Band Ligation (EVBL) for Esophageal Varices Performed by Esophagogastroduodenoscopy (EGD)

Muhammad Aziz, Beth Floyd, Tuba Esfandyari

DOI: 10.12659/AJCR.908232

Am J Case Rep 2018; 19:545-548

2,923 1,813 0

#908232

09 May 2018 : Case report  USA

A Rare Case of Complete Esophageal Obstruction Following Esophageal Variceal Band Ligation (EVBL) for Esophageal Varices Performed by Esophagogastroduodenoscopy (EGD)

Muhammad Aziz, Beth Floyd, Tuba Esfandyari

DOI: 10.12659/AJCR.908232

Am J Case Rep 2018; 19:545-548

2923 1813 0

#908952

04 May 2018 : Case report  Kuwait

Total Gastric Necrosis Due to Mucormycosis: A Rare Case of Gastric Perforation

Salah Termos, Feras Othman, Mohammad Alali, Bader M.S. Al Bader, Talal Alkhadher, Wael Fathi Hassanaiah, Ali Taqi, Abhijit Sapkal

DOI: 10.12659/AJCR.908952

Am J Case Rep 2018; 19:527-533

3,354 1,279 0

#908952

04 May 2018 : Case report  Kuwait

Total Gastric Necrosis Due to Mucormycosis: A Rare Case of Gastric Perforation

Salah Termos, Feras Othman, Mohammad Alali, Bader M.S. Al Bader, Talal Alkhadher, Wael Fathi Hassanaiah, Ali Taqi, Abhijit Sapkal

DOI: 10.12659/AJCR.908952

Am J Case Rep 2018; 19:527-533

3354 1279 0

#908649

30 Apr 2018 : Case report  USA

Clinical Benefit from Tyrosine Kinase Inhibitors in Metastatic Merkel Cell Carcinoma: A Case Series of 5 Patients

Erica S. Tarabadkar, Hannah Thomas, Astrid Blom, Upendra Parvathaneni, Thomas Olencki, Paul Nghiem, Shailender Bhatia

DOI: 10.12659/AJCR.908649

Am J Case Rep 2018; 19:505-511

3,185 983 0

#908649

30 Apr 2018 : Case report  USA

Clinical Benefit from Tyrosine Kinase Inhibitors in Metastatic Merkel Cell Carcinoma: A Case Series of 5 Patients

Erica S. Tarabadkar, Hannah Thomas, Astrid Blom, Upendra Parvathaneni, Thomas Olencki, Paul Nghiem, Shailender Bhatia

DOI: 10.12659/AJCR.908649

Am J Case Rep 2018; 19:505-511

3185 983 0

#908036

28 Apr 2018 : Case report  Saudi Arabia

Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center

Hebah M. Musalem, Qais S. Dirar, Selwa A.F. Al-Hazzaa, Abdul-Aziz A. Al Zoba, Jeylan El-Mansoury

DOI: 10.12659/AJCR.908036

Am J Case Rep 2018; 19:500-504

2,862 1,066 0

#908036

28 Apr 2018 : Case report  Saudi Arabia

Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center

Hebah M. Musalem, Qais S. Dirar, Selwa A.F. Al-Hazzaa, Abdul-Aziz A. Al Zoba, Jeylan El-Mansoury

DOI: 10.12659/AJCR.908036

Am J Case Rep 2018; 19:500-504

2862 1066 0

#908653

25 Apr 2018 : Case report  Brazil

Urbanorum Spp: First Report in Brazil

Raí Pablo Sousa de Aguiar, Lumar Lucena Alves

DOI: 10.12659/AJCR.908653

Am J Case Rep 2018; 19:486-490

3,196 971 0

#908653

25 Apr 2018 : Case report  Brazil

Urbanorum Spp: First Report in Brazil

Raí Pablo Sousa de Aguiar, Lumar Lucena Alves

DOI: 10.12659/AJCR.908653

Am J Case Rep 2018; 19:486-490

3196 971 0

#908317

23 Apr 2018 : Case report  USA

Lipid-Rich Variant of Urothelial Carcinoma Presenting as the Dominant Morphology in a Recurrent Tumor After Local Therapy

Archi Patel, Rowena E. Velilla, Muhammad Salah Shurbaji

DOI: 10.12659/AJCR.908317

Am J Case Rep 2018; 19:478-481

2,415 906 0

#908317

23 Apr 2018 : Case report  USA

Lipid-Rich Variant of Urothelial Carcinoma Presenting as the Dominant Morphology in a Recurrent Tumor After Local Therapy

Archi Patel, Rowena E. Velilla, Muhammad Salah Shurbaji

DOI: 10.12659/AJCR.908317

Am J Case Rep 2018; 19:478-481

2415 906 0

#908389

20 Apr 2018 : Case report  China (mainland)

Hirschsprung's Disease-Related Giant Sigmoid Volvulus Complicated by Refractory Hypertension in an Elderly Man

Shaohan Wu, Xiaofang Sun, Yawei Yu, Yiyu Shen

DOI: 10.12659/AJCR.908389

Am J Case Rep 2018; 19:467-471

2,904 1,281 0

#908389

20 Apr 2018 : Case report  China (mainland)

Hirschsprung's Disease-Related Giant Sigmoid Volvulus Complicated by Refractory Hypertension in an Elderly Man

Shaohan Wu, Xiaofang Sun, Yawei Yu, Yiyu Shen

DOI: 10.12659/AJCR.908389

Am J Case Rep 2018; 19:467-471

2904 1281 0

#907383

17 Apr 2018 : Case report  Saudi Arabia

Acute Lymphoblastic Leukemia Presenting with Liver Infiltration and Severe Lactic Acidosis

Ayman Hassan Sayyed, Aamer Aleem, Mohammad Sami Al-Katari, Fatma Algahtani, Khaldoon Aljerian, Talha A. Aleem, Khalid Alsaleh

DOI: 10.12659/AJCR.907383

Am J Case Rep 2018; 19:453-457

3,517 1,282 0

#907383

17 Apr 2018 : Case report  Saudi Arabia

Acute Lymphoblastic Leukemia Presenting with Liver Infiltration and Severe Lactic Acidosis

Ayman Hassan Sayyed, Aamer Aleem, Mohammad Sami Al-Katari, Fatma Algahtani, Khaldoon Aljerian, Talha A. Aleem, Khalid Alsaleh

DOI: 10.12659/AJCR.907383

Am J Case Rep 2018; 19:453-457

3517 1282 0

#907847

13 Apr 2018 : Case report  Brazil

A Rare Case of Relapsed Pediatric Acute Promyelocytic Leukemia with Skin Involvement by Myeloid Sarcoma

Nathalia Silva Araújo, Claudio José dos Santos Júnior, Vitória Mikaelly da Silva Gomes, Luiz Arthur Calheiros Leite, Luana Novaes Bomfim, Amanda Katielly Firmino da Silva Gusmão, Maria Jordana Rocha Gomes Alves, Cyndi Myrelle da Silva Barros Romão, Arthur Moacir Costa Sampaio Batinga, Maria Rosa da Silva, Célio Fernando de Sousa Rodrigues

DOI: 10.12659/AJCR.907847

Am J Case Rep 2018; 19:438-441

2,671 800 0

#907847

13 Apr 2018 : Case report  Brazil

A Rare Case of Relapsed Pediatric Acute Promyelocytic Leukemia with Skin Involvement by Myeloid Sarcoma

Nathalia Silva Araújo, Claudio José dos Santos Júnior, Vitória Mikaelly da Silva Gomes, Luiz Arthur Calheiros Leite, Luana Novaes Bomfim, Amanda Katielly Firmino da Silva Gusmão, Maria Jordana Rocha Gomes Alves, Cyndi Myrelle da Silva Barros Romão, Arthur Moacir Costa Sampaio Batinga, Maria Rosa da Silva, Célio Fernando de Sousa Rodrigues

DOI: 10.12659/AJCR.907847

Am J Case Rep 2018; 19:438-441

2671 800 0

#908475

10 Apr 2018 : Case report  China (mainland)

Corneal Opacity Leading to Multiple Myeloma Diagnosis: A Case Report and Literature Review

Naiyang Li, Zhe Zhu, Gengrong Yi, Sheng Li, Xiaotong Han

DOI: 10.12659/AJCR.908475

Am J Case Rep 2018; 19:421-425

2,846 927 0

#908475

10 Apr 2018 : Case report  China (mainland)

Corneal Opacity Leading to Multiple Myeloma Diagnosis: A Case Report and Literature Review

Naiyang Li, Zhe Zhu, Gengrong Yi, Sheng Li, Xiaotong Han

DOI: 10.12659/AJCR.908475

Am J Case Rep 2018; 19:421-425

2846 927 0

#908373

05 Apr 2018 : Case report  Italy

Cervical Esophagotomy for Foreign Body Extraction: A Case Report and Extensive Literature Review of the Last 20 Years

Pasquale Cianci, Nicola Tartaglia, Amedeo Altamura, Alessandra Di Lascia, Alberto Fersini, Vincenzo Neri, Antonio Ambrosi

DOI: 10.12659/AJCR.908373

Am J Case Rep 2018; 19:400-405

2,618 691 0

#908373

05 Apr 2018 : Case report  Italy

Cervical Esophagotomy for Foreign Body Extraction: A Case Report and Extensive Literature Review of the Last 20 Years

Pasquale Cianci, Nicola Tartaglia, Amedeo Altamura, Alessandra Di Lascia, Alberto Fersini, Vincenzo Neri, Antonio Ambrosi

DOI: 10.12659/AJCR.908373

Am J Case Rep 2018; 19:400-405

2618 691 0

#907550

30 Mar 2018 : Case report  USA

Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene

Karlos Z. Oregel, Geoffrey P. Shouse, Cyrus Oster, Freddy Martinez, Jun Wang, Michael Rosenzweig, Jeremy K. Deisch, Chien-Shing Chen, Gayathri Nagaraj

DOI: 10.12659/AJCR.907550

Am J Case Rep 2018; 19:374-381

2,302 847 0

#907550

30 Mar 2018 : Case report  USA

Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene

Karlos Z. Oregel, Geoffrey P. Shouse, Cyrus Oster, Freddy Martinez, Jun Wang, Michael Rosenzweig, Jeremy K. Deisch, Chien-Shing Chen, Gayathri Nagaraj

DOI: 10.12659/AJCR.907550

Am J Case Rep 2018; 19:374-381

2302 847 0

#908725

28 Mar 2018 : Case report  Australia

Torsion of the Vermiform Appendix: A Case Report and Review of Literature

Wan Amir Wan Hassan, Yeng Kwang Tay, Marjan Ghadiri

DOI: 10.12659/AJCR.908725

Am J Case Rep 2018; 19:365-368

2,592 908 0

#908725

28 Mar 2018 : Case report  Australia

Torsion of the Vermiform Appendix: A Case Report and Review of Literature

Wan Amir Wan Hassan, Yeng Kwang Tay, Marjan Ghadiri

DOI: 10.12659/AJCR.908725

Am J Case Rep 2018; 19:365-368

2592 908 0

#907395

25 Mar 2018 : Case report  USA

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

Mohammad Almeqdadi, Jennifer L. Kemppainen, Pavel N. Pichurin, Ralitza H. Gavrilova

DOI: 10.12659/AJCR.907395

Am J Case Rep 2018; 19:347-353

2,582 779 0

#907395

25 Mar 2018 : Case report  USA

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

Mohammad Almeqdadi, Jennifer L. Kemppainen, Pavel N. Pichurin, Ralitza H. Gavrilova

DOI: 10.12659/AJCR.907395

Am J Case Rep 2018; 19:347-353

2582 779 0

#908453

23 Mar 2018 : Case report  USA

Splenic Rupture as the First Manifestation of Babesia Microti Infection: Report of a Case and Review of Literature

Igor Dumic, Janki Patel, Melissa Hart, Eric R. Niendorf, Scott Martin, Poornima Ramanan

DOI: 10.12659/AJCR.908453

Am J Case Rep 2018; 19:335-341

3,350 1,204 0

#908453

23 Mar 2018 : Case report  USA

Splenic Rupture as the First Manifestation of Babesia Microti Infection: Report of a Case and Review of Literature

Igor Dumic, Janki Patel, Melissa Hart, Eric R. Niendorf, Scott Martin, Poornima Ramanan

DOI: 10.12659/AJCR.908453

Am J Case Rep 2018; 19:335-341

3350 1204 0

#908000

22 Mar 2018 : Case report  USA

Pyogenic Ventriculitis and Meningitis Caused by Streptococcus Acidominimus in Humans: A Case Report

Gaurang S. Shah

DOI: 10.12659/AJCR.908000

Am J Case Rep 2018; 19:329-334

2,937 996 0

#908000

22 Mar 2018 : Case report  USA

Pyogenic Ventriculitis and Meningitis Caused by Streptococcus Acidominimus in Humans: A Case Report

Gaurang S. Shah

DOI: 10.12659/AJCR.908000

Am J Case Rep 2018; 19:329-334

2937 996 0

#906767

18 Mar 2018 : Case report  USA

A Case of Lown-Ganong-Levine Syndrome: Due to an Accessory Pathway of James Fibers or Enhanced Atrioventricular Nodal Conduction (EAVNC)?

Juanita Hunter, Emmanouil Tsounias, John Cogan, Ming-Lon Young

DOI: 10.12659/AJCR.906767

Am J Case Rep 2018; 19:309-313

3,973 3,489 0

#906767

18 Mar 2018 : Case report  USA

A Case of Lown-Ganong-Levine Syndrome: Due to an Accessory Pathway of James Fibers or Enhanced Atrioventricular Nodal Conduction (EAVNC)?

Juanita Hunter, Emmanouil Tsounias, John Cogan, Ming-Lon Young

DOI: 10.12659/AJCR.906767

Am J Case Rep 2018; 19:309-313

3973 3489 0

#907494

17 Mar 2018 : Case report  Japan

Living Donor Liver Transplantation for Wilson’s Disease Associated with Fulminant Hepatic Failure: A Case Report

Yu Huang, Mitsuhisa Takatsuki, Akihiko Soyama, Masaaki Hidaka, Shinichiro Ono, Tomohiko Adachi, Takanobu Hara, Satomi Okada, Takashi Hamada, Susumu Eguchi

DOI: 10.12659/AJCR.907494

Am J Case Rep 2018; 19:304-308

2,602 923 0

#907494

17 Mar 2018 : Case report  Japan

Living Donor Liver Transplantation for Wilson’s Disease Associated with Fulminant Hepatic Failure: A Case Report

Yu Huang, Mitsuhisa Takatsuki, Akihiko Soyama, Masaaki Hidaka, Shinichiro Ono, Tomohiko Adachi, Takanobu Hara, Satomi Okada, Takashi Hamada, Susumu Eguchi

DOI: 10.12659/AJCR.907494

Am J Case Rep 2018; 19:304-308

2602 923 0

#908385

14 Mar 2018 : Case report  Japan

A Case of Low-Grade Primary Cardiac Lymphoma with Pericardial Effusion Diagnosed by Combined 18F-Fluorodeoxyglucose Positron Emission Tomography and Computed Tomography (FDG-PET/CT) Imaging and Effusion Cytology

Hisanori Fukunaga, Yasuko Tatewaki, Tatsushi Mutoh, Hideo Shimomura, Shuzo Yamamoto, Chiaki Terao, Tomoko Totsune, Manabu Nakagawa, Yasuyuki Taki

DOI: 10.12659/AJCR.908385

Am J Case Rep 2018; 19:292-295

2,397 866 0

#908385

14 Mar 2018 : Case report  Japan

A Case of Low-Grade Primary Cardiac Lymphoma with Pericardial Effusion Diagnosed by Combined 18F-Fluorodeoxyglucose Positron Emission Tomography and Computed Tomography (FDG-PET/CT) Imaging and Effusion Cytology

Hisanori Fukunaga, Yasuko Tatewaki, Tatsushi Mutoh, Hideo Shimomura, Shuzo Yamamoto, Chiaki Terao, Tomoko Totsune, Manabu Nakagawa, Yasuyuki Taki

DOI: 10.12659/AJCR.908385

Am J Case Rep 2018; 19:292-295

2397 866 0

#906486

12 Mar 2018 : Case report  USA

A Case of Carcinoid Syndrome Due to Malignant Metastatic Carcinoid Tumor with Carcinoid Heart Disease Involving Four Cardiac Valves

Brianna J. Shinn, Laura J. Tafe, Pantila Vanichakarn

DOI: 10.12659/AJCR.906486

Am J Case Rep 2018; 19:284-288

2,328 680 0

#906486

12 Mar 2018 : Case report  USA

A Case of Carcinoid Syndrome Due to Malignant Metastatic Carcinoid Tumor with Carcinoid Heart Disease Involving Four Cardiac Valves

Brianna J. Shinn, Laura J. Tafe, Pantila Vanichakarn

DOI: 10.12659/AJCR.906486

Am J Case Rep 2018; 19:284-288

2328 680 0

#907804

08 Mar 2018 : Case report  China (mainland)

Multiple Lymphomatous Polyposis of the Intestine with Ileocecal Intussusception Due to Mantle Cell Lymphoma: A Case Report of a 34-Year-Old Man

Chuan-gao Xie, Xiao-ming Xu, Shu-mei Wei

DOI: 10.12659/AJCR.907804

Am J Case Rep 2018; 19:262-266

2,834 770 0

#907804

08 Mar 2018 : Case report  China (mainland)

Multiple Lymphomatous Polyposis of the Intestine with Ileocecal Intussusception Due to Mantle Cell Lymphoma: A Case Report of a 34-Year-Old Man

Chuan-gao Xie, Xiao-ming Xu, Shu-mei Wei

DOI: 10.12659/AJCR.907804

Am J Case Rep 2018; 19:262-266

2834 770 0

#907639

02 Mar 2018 : Case report  USA

Right Ventricular Heart Failure from a Cardiac Yolk Sac Tumor

Nicholas Isom, Aniket S. Rali, Ivan Damjanov, Kevin Hubbard, Joel Grigsby, Kamal Gupta

DOI: 10.12659/AJCR.907639

Am J Case Rep 2018; 19:229-233

3,412 935 0

#907639

02 Mar 2018 : Case report  USA

Right Ventricular Heart Failure from a Cardiac Yolk Sac Tumor

Nicholas Isom, Aniket S. Rali, Ivan Damjanov, Kevin Hubbard, Joel Grigsby, Kamal Gupta

DOI: 10.12659/AJCR.907639

Am J Case Rep 2018; 19:229-233

3412 935 0

#906227

01 Mar 2018 : Case report  USA

Intracardiac Abscess and Pacemaker Lead Infection Secondary to Hematogenous Dissemination of Methicillin-Sensitive Staphylococcus Aureus from a Prior Diabetic Foot Ulcer and Osteomyelitis

Kristopher S. Pfirman, Robel Haile

DOI: 10.12659/AJCR.906227

Am J Case Rep 2018; 19:224-228

3,222 811 0

#906227

01 Mar 2018 : Case report  USA

Intracardiac Abscess and Pacemaker Lead Infection Secondary to Hematogenous Dissemination of Methicillin-Sensitive Staphylococcus Aureus from a Prior Diabetic Foot Ulcer and Osteomyelitis

Kristopher S. Pfirman, Robel Haile

DOI: 10.12659/AJCR.906227

Am J Case Rep 2018; 19:224-228

3222 811 0

In Press

Case report  USA

Refractory Hyperammonemic Encephalopathy as a Paraneoplastic Presentation of Fibrolamellar Hepatocellular C...

Am J Case Rep In Press; DOI: 10.12659/AJCR.952819  

Case report  Indonesia

Ovarian Lymphoma and Bone Metastasis Presenting With Paraparesis in an Adolescent: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.952834  

Case report  France

Pilomatricoma in an Octogenarian: A Case Report of an Exceptional Late-Life Presentation

Am J Case Rep In Press; DOI: 10.12659/AJCR.953320  

Case report  USA

Canine-Associated Capnocytophaga canimorsus Bacteremia in an Older Adult Without Classical Immunosuppressiv...

Am J Case Rep In Press; DOI: 10.12659/AJCR.952980  

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923