Rare disease

08 May 2020 : Case report
Diagnosis of Persistent Cloaca by Ultrasonography and MRI: A Case Report
Takakazu Kawamura, Aki Kamo, Tomizo Nishiguchi
DOI: 10.12659/AJCR.921576
Am J Case Rep 2020; 21:e921576
3,939 1,199 0

08 May 2020 : Case report
Diagnosis of Persistent Cloaca by Ultrasonography and MRI: A Case Report
Takakazu Kawamura, Aki Kamo, Tomizo Nishiguchi
DOI: 10.12659/AJCR.921576
Am J Case Rep 2020; 21:e921576
3939 1199 0

07 May 2020 : Case report
Utilization of Emicizumab in Acquired Factor VIII Deficiency
Kevin J. Hess, Preysi Patel, Amogh M. Joshi, Adam Kotkiewicz
DOI: 10.12659/AJCR.922326
Am J Case Rep 2020; 21:e922326
2,880 920 0

07 May 2020 : Case report
Utilization of Emicizumab in Acquired Factor VIII Deficiency
Kevin J. Hess, Preysi Patel, Amogh M. Joshi, Adam Kotkiewicz
DOI: 10.12659/AJCR.922326
Am J Case Rep 2020; 21:e922326
2880 920 0

06 May 2020 : Case report
The First Report of Calcified Amorphous Tumor Associated with Infective Endocarditis: A Case Report and Review of Literature
Aiko Okazaki, Yu Oyama, Naoto Hosokawa, Hirokazu Ban, Yasutomo Miyaji, Sandra Moody
DOI: 10.12659/AJCR.922960
Am J Case Rep 2020; 21:e922960
3,583 1,062 0

06 May 2020 : Case report
The First Report of Calcified Amorphous Tumor Associated with Infective Endocarditis: A Case Report and Review of Literature
Aiko Okazaki, Yu Oyama, Naoto Hosokawa, Hirokazu Ban, Yasutomo Miyaji, Sandra Moody
DOI: 10.12659/AJCR.922960
Am J Case Rep 2020; 21:e922960
3583 1062 0

06 May 2020 : Case report
A Right Video-Assisted Thoracoscopic Enucleation of a Calcified Esophageal Leiomyoma: A Case Report
Tuqa Adil Alsinan, Hassan Ahmad Robaidi, Khaled Manaa Alkattan
DOI: 10.12659/AJCR.922422
Am J Case Rep 2020; 21:e922422
3,726 907 0

06 May 2020 : Case report
A Right Video-Assisted Thoracoscopic Enucleation of a Calcified Esophageal Leiomyoma: A Case Report
Tuqa Adil Alsinan, Hassan Ahmad Robaidi, Khaled Manaa Alkattan
DOI: 10.12659/AJCR.922422
Am J Case Rep 2020; 21:e922422
3726 907 0

05 May 2020 : Case report
Eosinophilic Angiocentric Fibrosis in Bilateral Upper Eyelid Conjunctivas: A First Case Report
Sho Okuyama, Hiroyuki Yazu, Yumi Ito, Hiroshi Minato, Hiroshi Fujishima
DOI: 10.12659/AJCR.924042
Am J Case Rep 2020; 21:e924042
3,379 778 0

05 May 2020 : Case report
Eosinophilic Angiocentric Fibrosis in Bilateral Upper Eyelid Conjunctivas: A First Case Report
Sho Okuyama, Hiroyuki Yazu, Yumi Ito, Hiroshi Minato, Hiroshi Fujishima
DOI: 10.12659/AJCR.924042
Am J Case Rep 2020; 21:e924042
3379 778 0

03 May 2020 : Case report
Atypical Hemolytic Uremic Syndrome (p.Gly1110Ala) with Autoimmune Disease
Sihyung Park, Yoo Jin Lee, Yang Wook Kim, Junghae Ko, Jin Han Park, Il Hwan Kim, Hee-Jin Kim, Doyeun Oh, Bong Soo Park
DOI: 10.12659/AJCR.922567
Am J Case Rep 2020; 21:e922567
3,419 1,013 0

03 May 2020 : Case report
Atypical Hemolytic Uremic Syndrome (p.Gly1110Ala) with Autoimmune Disease
Sihyung Park, Yoo Jin Lee, Yang Wook Kim, Junghae Ko, Jin Han Park, Il Hwan Kim, Hee-Jin Kim, Doyeun Oh, Bong Soo Park
DOI: 10.12659/AJCR.922567
Am J Case Rep 2020; 21:e922567
3419 1013 0

30 Apr 2020 : Case report
A Rare Case of Large Solid Pseudopapillary Tumor in a Child
Ngo Minh Xuan, Tran Thi Khanh Tuong, Huynh Quang Huy
DOI: 10.12659/AJCR.923990
Am J Case Rep 2020; 21:e923990
2,513 1,081 0

30 Apr 2020 : Case report
A Rare Case of Large Solid Pseudopapillary Tumor in a Child
Ngo Minh Xuan, Tran Thi Khanh Tuong, Huynh Quang Huy
DOI: 10.12659/AJCR.923990
Am J Case Rep 2020; 21:e923990
2513 1081 0

30 Apr 2020 : Case report
Multiple Neural Tube Defects: A Case Report
Mohammad Ahmad Jamous, Suleiman Shaheer Daoud, Abdullah Mohammad Abu-Aqoulah
DOI: 10.12659/AJCR.922312
Am J Case Rep 2020; 21:e922312
2,761 1,815 0

30 Apr 2020 : Case report
Multiple Neural Tube Defects: A Case Report
Mohammad Ahmad Jamous, Suleiman Shaheer Daoud, Abdullah Mohammad Abu-Aqoulah
DOI: 10.12659/AJCR.922312
Am J Case Rep 2020; 21:e922312
2761 1815 0

29 Apr 2020 : Case report
Acute Intestinal Infarction Due to Diffuse Jejunoileal and Mesenteric Lipomatosis in a 39-Year-Old Woman
Nadejda Cojocari, Leonard David
DOI: 10.12659/AJCR.922830
Am J Case Rep 2020; 21:e922830
2,643 873 0

29 Apr 2020 : Case report
Acute Intestinal Infarction Due to Diffuse Jejunoileal and Mesenteric Lipomatosis in a 39-Year-Old Woman
Nadejda Cojocari, Leonard David
DOI: 10.12659/AJCR.922830
Am J Case Rep 2020; 21:e922830
2643 873 0

29 Apr 2020 : Case report
Leiomyosarcoma Tumor Embolism Masquerading as Thrombus in Transit
Benjamin L. Rosenfeld, Riyaz Bashir, Meredith A. Brisco-Bacik, Ioannis P. Panidis, Anjali Vaidya, Kenji Minakata, Paul R. Forfia
DOI: 10.12659/AJCR.921124
Am J Case Rep 2020; 21:e921124
2,347 907 0

29 Apr 2020 : Case report
Leiomyosarcoma Tumor Embolism Masquerading as Thrombus in Transit
Benjamin L. Rosenfeld, Riyaz Bashir, Meredith A. Brisco-Bacik, Ioannis P. Panidis, Anjali Vaidya, Kenji Minakata, Paul R. Forfia
DOI: 10.12659/AJCR.921124
Am J Case Rep 2020; 21:e921124
2347 907 0

28 Apr 2020 : Case report
Intracranial Gorgon: Surgical Case Report of a Large Calcified Brain Arteriovenous Malformation
Ioan Alexandru Florian, Laura Popovici, Teodora Larisa Timis, Ioan Stefan Florian, Ioana Berindan-Neagoe
DOI: 10.12659/AJCR.922872
Am J Case Rep 2020; 21:e922872
1,846 776 0

28 Apr 2020 : Case report
Intracranial Gorgon: Surgical Case Report of a Large Calcified Brain Arteriovenous Malformation
Ioan Alexandru Florian, Laura Popovici, Teodora Larisa Timis, Ioan Stefan Florian, Ioana Berindan-Neagoe
DOI: 10.12659/AJCR.922872
Am J Case Rep 2020; 21:e922872
1846 776 0

27 Apr 2020 : Case report
Sodium-Thiosulfate Induced Life-Threatening Metabolic Acidosis Limiting Treatment of Calciphylaxis
Raman Sohal, Tanya George
DOI: 10.12659/AJCR.919926
Am J Case Rep 2020; 21:e919926
3,079 1,165 0

27 Apr 2020 : Case report
Sodium-Thiosulfate Induced Life-Threatening Metabolic Acidosis Limiting Treatment of Calciphylaxis
Raman Sohal, Tanya George
DOI: 10.12659/AJCR.919926
Am J Case Rep 2020; 21:e919926
3079 1165 0

26 Apr 2020 : Case report
Torsion of Granulosa Cell Tumor of the Ovary in a Preschool Patient: A Rare Cause of Acute Abdomen
Ivonete Siviero, Jeferson Tobias da Silva de Oliveira, Danielle Nunes Forny, Ivens Baker Méio, Betina Carla Bertrand Simões, Claudia Renata Rezende Penna, Vera Lúcia Antunes Chagas
DOI: 10.12659/AJCR.921689
Am J Case Rep 2020; 21:e921689
2,331 992 0

26 Apr 2020 : Case report
Torsion of Granulosa Cell Tumor of the Ovary in a Preschool Patient: A Rare Cause of Acute Abdomen
Ivonete Siviero, Jeferson Tobias da Silva de Oliveira, Danielle Nunes Forny, Ivens Baker Méio, Betina Carla Bertrand Simões, Claudia Renata Rezende Penna, Vera Lúcia Antunes Chagas
DOI: 10.12659/AJCR.921689
Am J Case Rep 2020; 21:e921689
2331 992 0

25 Apr 2020 : Case report
A Diagnostic Dilemma of a Subcutaneous Hibernoma: Case Report
Abdullah Saleh AlQattan, Alaa A. Al Abdrabalnabi, Mohammed Abdulrazzaq Al Duhileb, Tarek Ewies, Miral Mashhour, Ahmed Abbas
DOI: 10.12659/AJCR.921447
Am J Case Rep 2020; 21:e921447
2,668 964 0

25 Apr 2020 : Case report
A Diagnostic Dilemma of a Subcutaneous Hibernoma: Case Report
Abdullah Saleh AlQattan, Alaa A. Al Abdrabalnabi, Mohammed Abdulrazzaq Al Duhileb, Tarek Ewies, Miral Mashhour, Ahmed Abbas
DOI: 10.12659/AJCR.921447
Am J Case Rep 2020; 21:e921447
2668 964 0

24 Apr 2020 : Case report
Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
Rossana Santiago de Sousa Azulay, Marcelo Magalhães, Maria da Gloria Tavares, Roberta Dualibe, Lívia Barbosa, Silvia Sá Gaspar, André M. Faria, Gilvan Cortês Nascimento, Sabrina Da Silva Pereira Damianse, Viviane Chaves de Carvalho Rocha, Marília B. Gomes, Manuel dos Santos Faria
DOI: 10.12659/AJCR.923108
Am J Case Rep 2020; 21:e923108
3,475 1,079 0

24 Apr 2020 : Case report
Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
Rossana Santiago de Sousa Azulay, Marcelo Magalhães, Maria da Gloria Tavares, Roberta Dualibe, Lívia Barbosa, Silvia Sá Gaspar, André M. Faria, Gilvan Cortês Nascimento, Sabrina Da Silva Pereira Damianse, Viviane Chaves de Carvalho Rocha, Marília B. Gomes, Manuel dos Santos Faria
DOI: 10.12659/AJCR.923108
Am J Case Rep 2020; 21:e923108
3475 1079 0

22 Apr 2020 : Case report
A Case of Nutcracker Syndrome Combined with Wilkie Syndrome with Unusual Clinical Presentation
Renato Farina, Francesco Aldo Iannace, Pietro Valerio Foti, Andrea Conti, Corrado Inì, Federica Libra, Luigi Fanzone, Maria Enza Coronella, Serafino Santonocito, Antonio Basile
DOI: 10.12659/AJCR.922715
Am J Case Rep 2020; 21:e922715
3,225 1,375 0

22 Apr 2020 : Case report
A Case of Nutcracker Syndrome Combined with Wilkie Syndrome with Unusual Clinical Presentation
Renato Farina, Francesco Aldo Iannace, Pietro Valerio Foti, Andrea Conti, Corrado Inì, Federica Libra, Luigi Fanzone, Maria Enza Coronella, Serafino Santonocito, Antonio Basile
DOI: 10.12659/AJCR.922715
Am J Case Rep 2020; 21:e922715
3225 1375 0

21 Apr 2020 : Case report
A Rare and Fatal Case of Hemophagocytic Lymphohistiocytosis Associated with Sarcoidosis
Patrick A. Yousif, Hameadreza R. Moshrefi, Mohamed A. Mohamed, Alireza Meysami
DOI: 10.12659/AJCR.921306
Am J Case Rep 2020; 21:e921306
3,041 880 0

21 Apr 2020 : Case report
A Rare and Fatal Case of Hemophagocytic Lymphohistiocytosis Associated with Sarcoidosis
Patrick A. Yousif, Hameadreza R. Moshrefi, Mohamed A. Mohamed, Alireza Meysami
DOI: 10.12659/AJCR.921306
Am J Case Rep 2020; 21:e921306
3041 880 0

20 Apr 2020 : Case report
Epidermolysis Bullosa Acquisita: A Case Report
Erik A. Kumetz, Jon H. Meyerle, Shayna C. Rivard
DOI: 10.12659/AJCR.919432
Am J Case Rep 2020; 21:e919432
2,755 948 0

20 Apr 2020 : Case report
Epidermolysis Bullosa Acquisita: A Case Report
Erik A. Kumetz, Jon H. Meyerle, Shayna C. Rivard
DOI: 10.12659/AJCR.919432
Am J Case Rep 2020; 21:e919432
2755 948 0

16 Apr 2020 : Case report
A Microbiologist’s Mexico Trip Ends with Multiple Tiny Ring-Like Pelvic Abscesses
Haider Ghazanfar, Nisha N. Ali, Richard B. Cindrich, Ajsza Matela
DOI: 10.12659/AJCR.922221
Am J Case Rep 2020; 21:e922221
2,221 855 0

16 Apr 2020 : Case report
A Microbiologist’s Mexico Trip Ends with Multiple Tiny Ring-Like Pelvic Abscesses
Haider Ghazanfar, Nisha N. Ali, Richard B. Cindrich, Ajsza Matela
DOI: 10.12659/AJCR.922221
Am J Case Rep 2020; 21:e922221
2221 855 0

14 Apr 2020 : Case report
Lupus-Induced Vasculitis and Multiple Organ Dysfunction Syndrome as the First Presentation of Systemic Lupus Erythematosus (SLE) in Pregnancy
Patrick A. Yousif, Hameadreza Moshrefi, Alireza Meysami, Ayad H. Alkhatib
DOI: 10.12659/AJCR.921299
Am J Case Rep 2020; 21:e921299
4,115 1,037 0

14 Apr 2020 : Case report
Lupus-Induced Vasculitis and Multiple Organ Dysfunction Syndrome as the First Presentation of Systemic Lupus Erythematosus (SLE) in Pregnancy
Patrick A. Yousif, Hameadreza Moshrefi, Alireza Meysami, Ayad H. Alkhatib
DOI: 10.12659/AJCR.921299
Am J Case Rep 2020; 21:e921299
4115 1037 0

12 Apr 2020 : Case report
Case Report of a Mediastinal Vascular Malformation Mimicking Esophageal Varices on Endoscopy, with Emphasis on Radiological Findings
Mark Wang, Wei Keat Wan, Joe Francis
DOI: 10.12659/AJCR.922163
Am J Case Rep 2020; 21:e922163
2,645 983 0

12 Apr 2020 : Case report
Case Report of a Mediastinal Vascular Malformation Mimicking Esophageal Varices on Endoscopy, with Emphasis on Radiological Findings
Mark Wang, Wei Keat Wan, Joe Francis
DOI: 10.12659/AJCR.922163
Am J Case Rep 2020; 21:e922163
2645 983 0

07 Apr 2020 : Case report
Disseminated Disease by Mycobacterium abscessus and Mycobacterium celatum in an Immunocompromised Host
Maria Elena Locatelli, Salvatore Tosto, Vincenzo D’Agata, Paolo Bonaventura, Rosaria S. Grasso, Andrea Marino, Alessio Pampaloni, Daniele Scuderi, Federica Cosentino, Bruno Cacopardo
DOI: 10.12659/AJCR.921517
Am J Case Rep 2020; 21:e921517
2,963 1,143 0

07 Apr 2020 : Case report
Disseminated Disease by Mycobacterium abscessus and Mycobacterium celatum in an Immunocompromised Host
Maria Elena Locatelli, Salvatore Tosto, Vincenzo D’Agata, Paolo Bonaventura, Rosaria S. Grasso, Andrea Marino, Alessio Pampaloni, Daniele Scuderi, Federica Cosentino, Bruno Cacopardo
DOI: 10.12659/AJCR.921517
Am J Case Rep 2020; 21:e921517
2963 1143 0

06 Apr 2020 : Case report
Effect of Pegylated Interferon and Mitomycin C on Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum: A Case Series
Qais S. Dirar, Hebah M. Musalem, Selwa A.F. Al-Hazzaa, Abdulaziz A. Al Zoba, Amal A. Almalki
DOI: 10.12659/AJCR.921301
Am J Case Rep 2020; 21:e921301
4,044 903 0

06 Apr 2020 : Case report
Effect of Pegylated Interferon and Mitomycin C on Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum: A Case Series
Qais S. Dirar, Hebah M. Musalem, Selwa A.F. Al-Hazzaa, Abdulaziz A. Al Zoba, Amal A. Almalki
DOI: 10.12659/AJCR.921301
Am J Case Rep 2020; 21:e921301
4044 903 0

04 Apr 2020 : Case report
Unicentric Castleman’s Disease: Laparoscopic Approach of a Para-Duodenal Retroperitoneal Mass
Zeina Sawaya, Dana B. Semaan, Gregory Nicolas, Abbas Dib, Claude Tayar
DOI: 10.12659/AJCR.918444
Am J Case Rep 2020; 21:e918444
2,169 830 0

04 Apr 2020 : Case report
Unicentric Castleman’s Disease: Laparoscopic Approach of a Para-Duodenal Retroperitoneal Mass
Zeina Sawaya, Dana B. Semaan, Gregory Nicolas, Abbas Dib, Claude Tayar
DOI: 10.12659/AJCR.918444
Am J Case Rep 2020; 21:e918444
2169 830 0

03 Apr 2020 : Case report
Disseminated Cutaneous Tophi in a Patient with Chronic Tophaceous Gout and Renal Impairment: A Case Report of a Rare Manifestation of Gout
Faisal Parlindungan, Bambang Setiyohadi, Riesye Arisanti
DOI: 10.12659/AJCR.919349
Am J Case Rep 2020; 21:e919349
4,027 1,282 0

03 Apr 2020 : Case report
Disseminated Cutaneous Tophi in a Patient with Chronic Tophaceous Gout and Renal Impairment: A Case Report of a Rare Manifestation of Gout
Faisal Parlindungan, Bambang Setiyohadi, Riesye Arisanti
DOI: 10.12659/AJCR.919349
Am J Case Rep 2020; 21:e919349
4027 1282 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.954216
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.954932
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.954146
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953555
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