Rare disease

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
3,172 554 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
3172 554 0

14 May 2020 : Case report
Orthotopic Heart Transplant Recipient with Enteric-coated Mycophenolate Sodium (Myfortic) Induced Colitis
Craig C. Morris, Steven C. Stroud, Umamaheshwari Golconda, Sharon A. Gregoire, Elizabeth B. Juneman
DOI: 10.12659/AJCR.920235
Am J Case Rep 2020; 21:e920235
2,887 483 0

14 May 2020 : Case report
Orthotopic Heart Transplant Recipient with Enteric-coated Mycophenolate Sodium (Myfortic) Induced Colitis
Craig C. Morris, Steven C. Stroud, Umamaheshwari Golconda, Sharon A. Gregoire, Elizabeth B. Juneman
DOI: 10.12659/AJCR.920235
Am J Case Rep 2020; 21:e920235
2887 483 0

12 May 2020 : Case report
Spinal Cord Ischemia Because of Microvascular Thrombosis in a Patient with Necrotizing Pancreatitis. Case Report and Literature Review
Olaf Patryk Dłuski, Aneta Agnieszka Durmaj, Maciej Kosieradzki, Maurycy Jonas, Benedykt Szczepankiewicz, Jarosław Czerwiński, Agata Adamczyk, Piotr Palczewski
DOI: 10.12659/AJCR.923273
Am J Case Rep 2020; 21:e923273
2,243 509 0

12 May 2020 : Case report
Spinal Cord Ischemia Because of Microvascular Thrombosis in a Patient with Necrotizing Pancreatitis. Case Report and Literature Review
Olaf Patryk Dłuski, Aneta Agnieszka Durmaj, Maciej Kosieradzki, Maurycy Jonas, Benedykt Szczepankiewicz, Jarosław Czerwiński, Agata Adamczyk, Piotr Palczewski
DOI: 10.12659/AJCR.923273
Am J Case Rep 2020; 21:e923273
2243 509 0

11 May 2020 : Case report
Upper Gastrointestinal Bleeding Due to a Duodenal Metastasis from Primary Testicular Squamous Cell Carcinoma
Juan J. Gonzalez, Ahsan Wahab, Emelie Gonzalez, Aaron M. Udager, Zachery R. Reichert
DOI: 10.12659/AJCR.922007
Am J Case Rep 2020; 21:e922007
2,000 373 0

11 May 2020 : Case report
Upper Gastrointestinal Bleeding Due to a Duodenal Metastasis from Primary Testicular Squamous Cell Carcinoma
Juan J. Gonzalez, Ahsan Wahab, Emelie Gonzalez, Aaron M. Udager, Zachery R. Reichert
DOI: 10.12659/AJCR.922007
Am J Case Rep 2020; 21:e922007
2000 373 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
2,551 447 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
2551 447 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
2,363 454 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
2363 454 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
3,477 567 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
3477 567 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
3,230 567 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
3230 567 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
3,448 502 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
3448 502 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
3,104 390 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
3104 390 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
3,083 492 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
3083 492 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
1,601 401 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
1601 401 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
2,429 872 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
2429 872 0

17 May 2020 : Case report
Successful Transition from Plasma Exchange to Eculizumab in Acetylcholine Receptor Antibody- and Muscle-Specific Kinase (MuSK) Antibody-Negative Myasthenia Gravis: A Case Report
Gregory T. Greenwood, Zachary Lynch
DOI: 10.12659/AJCR.921431
Am J Case Rep 2020; 21:e921431
3,123 722 0

17 May 2020 : Case report
Successful Transition from Plasma Exchange to Eculizumab in Acetylcholine Receptor Antibody- and Muscle-Specific Kinase (MuSK) Antibody-Negative Myasthenia Gravis: A Case Report
Gregory T. Greenwood, Zachary Lynch
DOI: 10.12659/AJCR.921431
Am J Case Rep 2020; 21:e921431
3123 722 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
1,987 424 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
1987 424 0

10 May 2020 : Case report
Subcutaneous Masses as an Unusual Manifestation of Relapse in a Case of Atypical Chronic Lymphocytic Leukemia with Prolymphocytoid Transformation and Complex Karyotype: A Diagnostic Dilemma and Treatment Challenge
Mahmood B. Aldapt, Dina Soliman, Lajos Szabados, Mouhammad Z. Sharaf Eldean, Hawraa M. Shwaylia, Mohammad A.J. Abdulla, Mohamed A. Yassin
DOI: 10.12659/AJCR.920411
Am J Case Rep 2020; 21:e920411
2,402 454 0

10 May 2020 : Case report
Subcutaneous Masses as an Unusual Manifestation of Relapse in a Case of Atypical Chronic Lymphocytic Leukemia with Prolymphocytoid Transformation and Complex Karyotype: A Diagnostic Dilemma and Treatment Challenge
Mahmood B. Aldapt, Dina Soliman, Lajos Szabados, Mouhammad Z. Sharaf Eldean, Hawraa M. Shwaylia, Mohammad A.J. Abdulla, Mohamed A. Yassin
DOI: 10.12659/AJCR.920411
Am J Case Rep 2020; 21:e920411
2402 454 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
2,722 549 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
2722 549 0

11 May 2020 : Case report
Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant
Héctor Cruz-Camino, Mercedes Vázquez-Cantú, Diana Laura Vázquez-Cantú, Jesús Santos-Guzmán, Antonio Bandala-Jacques, René Gómez-Gutiérrez, Consuelo Cantú-Reyna
DOI: 10.12659/AJCR.919463
Am J Case Rep 2020; 21:e919463
2,548 478 0

11 May 2020 : Case report
Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant
Héctor Cruz-Camino, Mercedes Vázquez-Cantú, Diana Laura Vázquez-Cantú, Jesús Santos-Guzmán, Antonio Bandala-Jacques, René Gómez-Gutiérrez, Consuelo Cantú-Reyna
DOI: 10.12659/AJCR.919463
Am J Case Rep 2020; 21:e919463
2548 478 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
1,959 463 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
1959 463 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
2,289 435 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
2289 435 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
2,687 410 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
2687 410 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
1,938 417 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
1938 417 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
2,422 470 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
2422 470 0

01 Apr 2020 : Case report
Successful Management of the First Case of a Metastasized Complete Mole in Form of Twin Pregnancy in Jordan
Amer Sindiani, Basil Obeidat, Eman Alshdaifat
DOI: 10.12659/AJCR.923395
Am J Case Rep 2020; 21:e923395
2,351 488 0

01 Apr 2020 : Case report
Successful Management of the First Case of a Metastasized Complete Mole in Form of Twin Pregnancy in Jordan
Amer Sindiani, Basil Obeidat, Eman Alshdaifat
DOI: 10.12659/AJCR.923395
Am J Case Rep 2020; 21:e923395
2351 488 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
3,783 583 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
3783 583 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.949976
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.950290
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Am J Case Rep In Press; DOI: 10.12659/AJCR.950607
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Am J Case Rep In Press; DOI: 10.12659/AJCR.950985
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