Rare disease

19 May 2020 : Case report
Pachydermodactyly: A Case Report of a Little-Known and Benign Form of Digital Fibromatosis
Amanda Ling Fung Liew, Yonghan Ting
DOI: 10.12659/AJCR.923344
Am J Case Rep 2020; 21:e923344
2,637 1,628 0

19 May 2020 : Case report
Pachydermodactyly: A Case Report of a Little-Known and Benign Form of Digital Fibromatosis
Amanda Ling Fung Liew, Yonghan Ting
DOI: 10.12659/AJCR.923344
Am J Case Rep 2020; 21:e923344
2637 1628 0

15 May 2020 : Case report
Male Infertility in Robertsonian Translocation: A Case Report
Razan K. Almesned, Shaheed S. Alsuhaibani, Hamed J. Alali, Wafa A. Qubbaj, Naif K. Al Hathal
DOI: 10.12659/AJCR.921616
Am J Case Rep 2020; 21:e921616
4,575 1,795 0

15 May 2020 : Case report
Male Infertility in Robertsonian Translocation: A Case Report
Razan K. Almesned, Shaheed S. Alsuhaibani, Hamed J. Alali, Wafa A. Qubbaj, Naif K. Al Hathal
DOI: 10.12659/AJCR.921616
Am J Case Rep 2020; 21:e921616
4575 1795 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
3,074 1,128 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
3074 1128 0

15 May 2020 : Case report
An Unusual Case of Actinomucor elegans: A Challenging Diagnosis
Phillip A. Kubica, William M. Rehrauer, Alana K. Sterkel
DOI: 10.12659/AJCR.921562
Am J Case Rep 2020; 21:e921562
2,709 909 0

15 May 2020 : Case report
An Unusual Case of Actinomucor elegans: A Challenging Diagnosis
Phillip A. Kubica, William M. Rehrauer, Alana K. Sterkel
DOI: 10.12659/AJCR.921562
Am J Case Rep 2020; 21:e921562
2709 909 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
3,398 878 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
3398 878 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
3,142 829 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
3142 829 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
2,492 877 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
2492 877 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
2,152 582 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
2152 582 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
2,800 772 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
2800 772 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
2,561 736 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
2561 736 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
3,839 999 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
3839 999 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
3,513 934 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
3513 934 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
3,651 792 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
3651 792 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
3,317 682 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
3317 682 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
3,346 880 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
3346 880 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
1,771 662 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
1771 662 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
2,648 1,404 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
2648 1404 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
3,421 1,115 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
3421 1115 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
2,275 773 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
2275 773 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
2,672 836 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
2672 836 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
2,992 992 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
2992 992 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
2,707 785 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
2707 785 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
2,233 850 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
2233 850 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
2,569 820 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
2569 820 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
2,975 770 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
2975 770 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952819
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952834
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953320
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952980
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