Rare disease

26 Aug 2021 : Case report
Polycythemia Vera Associated with Pulmonary Hypertension and Diffuse Large B-Cell Lymphoma: A Case Report
Satoshi Kameda, Fusako Sera, Kazuaki Sato, Masako Kurashige, Shuichiro Higo, Tomohito Ohtani
, Akihiro Tsuboi, Shungo Hikoso, Eiichi Morii, Osamu Yamaguchi, Keiko Yamauchi-Takihara, Yasushi Sakata
DOI: 10.12659/AJCR.932956
Am J Case Rep 2021; 22:e932956
4,714 2,467 0

26 Aug 2021 : Case report
Polycythemia Vera Associated with Pulmonary Hypertension and Diffuse Large B-Cell Lymphoma: A Case Report
Satoshi Kameda, Fusako Sera, Kazuaki Sato, Masako Kurashige, Shuichiro Higo, Tomohito Ohtani
, Akihiro Tsuboi, Shungo Hikoso, Eiichi Morii, Osamu Yamaguchi, Keiko Yamauchi-Takihara, Yasushi Sakata
DOI: 10.12659/AJCR.932956
Am J Case Rep 2021; 22:e932956
4714 2467 0

25 Aug 2021 : Case report
Transition From Distinct Types of KRAS Mutation-Harboring Multifocal Lung Adenocarcinoma to Rhabdoid Tumor: A Longitudinal Follow-Up
Kensuke Setoguchi, Shigehisa Yanagi, Toshihiro Gi
, Hironobu Tsubouchi, Kazuko Uto, Takafumi Shigekusa
, Nobuhiro Matsumoto
, Yuichiro Sato, Masamitsu Nakazato
DOI: 10.12659/AJCR.932452
Am J Case Rep 2021; 22:e932452
3,085 1,277 0

25 Aug 2021 : Case report
Transition From Distinct Types of KRAS Mutation-Harboring Multifocal Lung Adenocarcinoma to Rhabdoid Tumor: A Longitudinal Follow-Up
Kensuke Setoguchi, Shigehisa Yanagi, Toshihiro Gi
, Hironobu Tsubouchi, Kazuko Uto, Takafumi Shigekusa
, Nobuhiro Matsumoto
, Yuichiro Sato, Masamitsu Nakazato
DOI: 10.12659/AJCR.932452
Am J Case Rep 2021; 22:e932452
3085 1277 0

24 Aug 2021 : Case report
Stylo-Jugular Venous Compression Syndrome: Lessons Based on a Case Report
Renato Farina, Pietro Valerio Foti, Isabella Pennisi, Andrea Conti, Gaetano A. Meli, Tiziana Vasile, Cecilia Gozzo, Eliana Tallamona, Corrado Inì, Stefano Palmucci, Massimo Venturini, Antonio Basile
DOI: 10.12659/AJCR.932035
Am J Case Rep 2021; 22:e932035
7,186 6,606 0

24 Aug 2021 : Case report
Stylo-Jugular Venous Compression Syndrome: Lessons Based on a Case Report
Renato Farina, Pietro Valerio Foti, Isabella Pennisi, Andrea Conti, Gaetano A. Meli, Tiziana Vasile, Cecilia Gozzo, Eliana Tallamona, Corrado Inì, Stefano Palmucci, Massimo Venturini, Antonio Basile
DOI: 10.12659/AJCR.932035
Am J Case Rep 2021; 22:e932035
7186 6606 0

23 Aug 2021 : Case report
Hepatic AL Amyloidosis without Significant Light Chain Elevation in a Patient Treated with CyBorD Plus Daratumumab
Brad Rybinski, Mehmet Kocoglu
DOI: 10.12659/AJCR.933241
Am J Case Rep 2021; 22:e933241
2,960 1,517 0

23 Aug 2021 : Case report
Hepatic AL Amyloidosis without Significant Light Chain Elevation in a Patient Treated with CyBorD Plus Daratumumab
Brad Rybinski, Mehmet Kocoglu
DOI: 10.12659/AJCR.933241
Am J Case Rep 2021; 22:e933241
2960 1517 0

18 Aug 2021 : Case report
A 2-Year-Old Boy Who Developed an Aortoesophageal Fistula After Swallowing a Button Battery, Managed Using a Novel Procedure with Vascular Plug Device as a Bridge to Definitive Surgical Repair
Khalid M. Alreheili, Mansour Almutairi, Ali Alsaadi, Ghousia Ahmed, Abdulrahman Alhejili, Taha AlKhatrawi
DOI: 10.12659/AJCR.931013
Am J Case Rep 2021; 22:e931013
3,013 2,387 0

18 Aug 2021 : Case report
A 2-Year-Old Boy Who Developed an Aortoesophageal Fistula After Swallowing a Button Battery, Managed Using a Novel Procedure with Vascular Plug Device as a Bridge to Definitive Surgical Repair
Khalid M. Alreheili, Mansour Almutairi, Ali Alsaadi, Ghousia Ahmed, Abdulrahman Alhejili, Taha AlKhatrawi
DOI: 10.12659/AJCR.931013
Am J Case Rep 2021; 22:e931013
3013 2387 0

18 Aug 2021 : Case report
A 55-Year-Old Japanese Man with Multiple Sclerosis Diagnosed with Disseminated Tuberculosis Identified by Liver Function Abnormalities: A Case Report
Akio Miyasaka, Shinichirou Sato, Tomoyuki Masuda, Yasuhiro Takikawa
DOI: 10.12659/AJCR.931369
Am J Case Rep 2021; 22:e931369
2,436 986 0

18 Aug 2021 : Case report
A 55-Year-Old Japanese Man with Multiple Sclerosis Diagnosed with Disseminated Tuberculosis Identified by Liver Function Abnormalities: A Case Report
Akio Miyasaka, Shinichirou Sato, Tomoyuki Masuda, Yasuhiro Takikawa
DOI: 10.12659/AJCR.931369
Am J Case Rep 2021; 22:e931369
2436 986 0

17 Aug 2021 : Case report
Drug-Associated Eosinophilic Fasciitis: A Case of Eosinophilic Fasciitis Secondary to Cemiplimab Therapy
Sri Harsha Boppana, Nageswara Rao Dulla, Bryce D. Beutler, Nageshwara Gullapalli, Ratinder Kaur
DOI: 10.12659/AJCR.932888
Am J Case Rep 2021; 22:e932888
3,978 1,440 0

17 Aug 2021 : Case report
Drug-Associated Eosinophilic Fasciitis: A Case of Eosinophilic Fasciitis Secondary to Cemiplimab Therapy
Sri Harsha Boppana, Nageswara Rao Dulla, Bryce D. Beutler, Nageshwara Gullapalli, Ratinder Kaur
DOI: 10.12659/AJCR.932888
Am J Case Rep 2021; 22:e932888
3978 1440 0

12 Aug 2021 : Case report
Intravenous Leiomyomatosis: An Uncommon Cause of Pulmonary Embolism
Michal Kloska, Preysi Patel, Andrea Soliman, Kaitlyn Musco, Jennifer Rovella
DOI: 10.12659/AJCR.931386
Am J Case Rep 2021; 22:e931386
3,997 2,242 0

12 Aug 2021 : Case report
Intravenous Leiomyomatosis: An Uncommon Cause of Pulmonary Embolism
Michal Kloska, Preysi Patel, Andrea Soliman, Kaitlyn Musco, Jennifer Rovella
DOI: 10.12659/AJCR.931386
Am J Case Rep 2021; 22:e931386
3997 2242 0

10 Aug 2021 : Case report
Severe Congenital Factor VII Deficiency with Normal Perioperative Coagulation Profile Based on ROTEM Analysis in a Hepatectomy
Richard S. Yeom, Xuejun A. Wang, Elia Elia, Uzung Yoon
DOI: 10.12659/AJCR.930245
Am J Case Rep 2021; 22:e930245
2,486 1,765 0

10 Aug 2021 : Case report
Severe Congenital Factor VII Deficiency with Normal Perioperative Coagulation Profile Based on ROTEM Analysis in a Hepatectomy
Richard S. Yeom, Xuejun A. Wang, Elia Elia, Uzung Yoon
DOI: 10.12659/AJCR.930245
Am J Case Rep 2021; 22:e930245
2486 1765 0

10 Aug 2021 : Case report
Voriconazole-Induced Hepatotoxicity Resolved after Switching to Amphotericin B in Fusarium dimerum Central Line-Associated Bloodstream Infection
Omar A. Alshaya, Rana A. Saleh, Shaden D. Alshehri
DOI: 10.12659/AJCR.932544
Am J Case Rep 2021; 22:e932544
4,057 2,737 0

10 Aug 2021 : Case report
Voriconazole-Induced Hepatotoxicity Resolved after Switching to Amphotericin B in Fusarium dimerum Central Line-Associated Bloodstream Infection
Omar A. Alshaya, Rana A. Saleh, Shaden D. Alshehri
DOI: 10.12659/AJCR.932544
Am J Case Rep 2021; 22:e932544
4057 2737 0

09 Aug 2021 : Case report
Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages
Shin-ya Katsuragi, Etsuko Hirose, Yoshifumi Arai, Yoshiro Otsuki, Shigeru Ohki, Hiroshi Kobayashi
DOI: 10.12659/AJCR.932450
Am J Case Rep 2021; 22:e932450
4,337 2,633 0

09 Aug 2021 : Case report
Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages
Shin-ya Katsuragi, Etsuko Hirose, Yoshifumi Arai, Yoshiro Otsuki, Shigeru Ohki, Hiroshi Kobayashi
DOI: 10.12659/AJCR.932450
Am J Case Rep 2021; 22:e932450
4337 2633 0

07 Aug 2021 : Case report
Pleural Effusion Secondary to Dasatinib Following Allogenic Hematopoietic Stem Cell Transplantation
Riyadh R. Alrubaye, Celine A. Fadel, Comfort Y. Adewunmi, Loida Del Rio Lopez
DOI: 10.12659/AJCR.932711
Am J Case Rep 2021; 22:e932711
3,383 2,753 0

07 Aug 2021 : Case report
Pleural Effusion Secondary to Dasatinib Following Allogenic Hematopoietic Stem Cell Transplantation
Riyadh R. Alrubaye, Celine A. Fadel, Comfort Y. Adewunmi, Loida Del Rio Lopez
DOI: 10.12659/AJCR.932711
Am J Case Rep 2021; 22:e932711
3383 2753 0

06 Aug 2021 : Case report
First 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia
Andy Sing Ong Tang, Qi Ying Wong, Ingrid Pao Lin Ting
, Panting Selvesten, Siaw Tze Yeo, Lee Ping Chew, Tem Lom Fam, Clare Hui Hong Tan
DOI: 10.12659/AJCR.932923
Am J Case Rep 2021; 22:e932923
3,074 1,249 0

06 Aug 2021 : Case report
First 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia
Andy Sing Ong Tang, Qi Ying Wong, Ingrid Pao Lin Ting
, Panting Selvesten, Siaw Tze Yeo, Lee Ping Chew, Tem Lom Fam, Clare Hui Hong Tan
DOI: 10.12659/AJCR.932923
Am J Case Rep 2021; 22:e932923
3074 1249 0

04 Aug 2021 : Case report
Jejunal Volvulus Around Gastrostomy Tube: An Exceptional Complication in Cerebral Palsy
Hind S. Alsaif, Ali Hassan
, Hassan Alsaleem, Osamah J. Refai, Khaled Awary, Faten Alaqeel, Raed Alsulaiman
DOI: 10.12659/AJCR.932075
Am J Case Rep 2021; 22:e932075
3,257 1,504 0

04 Aug 2021 : Case report
Jejunal Volvulus Around Gastrostomy Tube: An Exceptional Complication in Cerebral Palsy
Hind S. Alsaif, Ali Hassan
, Hassan Alsaleem, Osamah J. Refai, Khaled Awary, Faten Alaqeel, Raed Alsulaiman
DOI: 10.12659/AJCR.932075
Am J Case Rep 2021; 22:e932075
3257 1504 0

02 Aug 2021 : Case report
Acquired Thrombotic Thrombocytopenic Purpura Without Anti-ADAMTS13 Antibody Caused by Influenza A (H1N1) Virus Successfully Treated by Plasma Exchange: A Case Report
Keisuke Kubo, Tomohiro Abe
, Noriaki Kawano, Hidenobu Ochiai
DOI: 10.12659/AJCR.932251
Am J Case Rep 2021; 22:e932251
3,615 1,647 0

02 Aug 2021 : Case report
Acquired Thrombotic Thrombocytopenic Purpura Without Anti-ADAMTS13 Antibody Caused by Influenza A (H1N1) Virus Successfully Treated by Plasma Exchange: A Case Report
Keisuke Kubo, Tomohiro Abe
, Noriaki Kawano, Hidenobu Ochiai
DOI: 10.12659/AJCR.932251
Am J Case Rep 2021; 22:e932251
3615 1647 0

02 Aug 2021 : Case report
Scurvy as an Alarm Bell of Autistic Spectrum Disorder in the First World: A Case Report of a 3-Year-Old Girl
Maria Liuzzo Scorpo, Giovanni Corsello, Maria Cristina Maggio
DOI: 10.12659/AJCR.930583
Am J Case Rep 2021; 22:e930583
4,299 2,617 0

02 Aug 2021 : Case report
Scurvy as an Alarm Bell of Autistic Spectrum Disorder in the First World: A Case Report of a 3-Year-Old Girl
Maria Liuzzo Scorpo, Giovanni Corsello, Maria Cristina Maggio
DOI: 10.12659/AJCR.930583
Am J Case Rep 2021; 22:e930583
4299 2617 0

04 Aug 2021 : Case report
Small Bowel Obstruction Due to Incarcerated Obturator Hernia: Successfull Surgical Management with Modified Mesh-Plug Hernioplasty
Bruno Rafael da Silva Barbosa, José Carlos Pereira Pinto, Liliana Duarte, Júlio Marques, Carlos Casimiro
DOI: 10.12659/AJCR.931398
Am J Case Rep 2021; 22:e931398
2,915 1,714 0

04 Aug 2021 : Case report
Small Bowel Obstruction Due to Incarcerated Obturator Hernia: Successfull Surgical Management with Modified Mesh-Plug Hernioplasty
Bruno Rafael da Silva Barbosa, José Carlos Pereira Pinto, Liliana Duarte, Júlio Marques, Carlos Casimiro
DOI: 10.12659/AJCR.931398
Am J Case Rep 2021; 22:e931398
2915 1714 0

28 Jul 2021 : Case report
Total Splenectomy for a Giant Isolated Splenic Hydatid Cyst Compressing the Abdominal Viscera: A Case Report
Dimitrios Chatzifotiou, Christian Wolf, Arturs Baibakovs, Harald Werthebach, Bogdan Lupascu, Martin Schnell
DOI: 10.12659/AJCR.931195
Am J Case Rep 2021; 22:e931195
2,358 1,642 0

28 Jul 2021 : Case report
Total Splenectomy for a Giant Isolated Splenic Hydatid Cyst Compressing the Abdominal Viscera: A Case Report
Dimitrios Chatzifotiou, Christian Wolf, Arturs Baibakovs, Harald Werthebach, Bogdan Lupascu, Martin Schnell
DOI: 10.12659/AJCR.931195
Am J Case Rep 2021; 22:e931195
2358 1642 0

27 Jul 2021 : Case report
Laparoscopic Surgery for Diagnosis and Treatment of Acute Right Upper-Quadrant Abdominal Pain Due to Omental Infarction: A Report of a Rare Case in a Single Vietnamese Hospital
Tran Que Son, Tran Hieu Hoc, Vu Duc Long, Tran Thanh Tung, Pham Van Tuyen, Nguyen Toan Thang, Tran Thu Huong
DOI: 10.12659/AJCR.931098
Am J Case Rep 2021; 22:e931098
5,427 5,134 0

27 Jul 2021 : Case report
Laparoscopic Surgery for Diagnosis and Treatment of Acute Right Upper-Quadrant Abdominal Pain Due to Omental Infarction: A Report of a Rare Case in a Single Vietnamese Hospital
Tran Que Son, Tran Hieu Hoc, Vu Duc Long, Tran Thanh Tung, Pham Van Tuyen, Nguyen Toan Thang, Tran Thu Huong
DOI: 10.12659/AJCR.931098
Am J Case Rep 2021; 22:e931098
5427 5134 0

26 Jul 2021 : Case report
A Rare Case of Invasive Mucormycosis in a Diabetic Patient Treated with a Short Course of Dexamethasone
Gurchetan Randhawa, Sean Hagaman, Mahsa Pourabdollah Tootkaboni, Sanchit V. Kundal, Sharad Oli
, James Alrassi, Sam D. Schild, Sara Abu-Ghanem, Shelly Brejt
DOI: 10.12659/AJCR.932129
Am J Case Rep 2021; 22:e932129
3,167 1,324 0

26 Jul 2021 : Case report
A Rare Case of Invasive Mucormycosis in a Diabetic Patient Treated with a Short Course of Dexamethasone
Gurchetan Randhawa, Sean Hagaman, Mahsa Pourabdollah Tootkaboni, Sanchit V. Kundal, Sharad Oli
, James Alrassi, Sam D. Schild, Sara Abu-Ghanem, Shelly Brejt
DOI: 10.12659/AJCR.932129
Am J Case Rep 2021; 22:e932129
3167 1324 0

22 Jul 2021 : Case report
Unusual Movement Disorders and Atypical Magnetic Resonance Imaging (MRI) Findings in Patients with West Nile Encephalitis: Case Reports of 2 Patients with Evidence of Clinical and Imaging Resolution with IVIG
Irfan S. Sheikh, Ehad Afreen, Ajaz Sheikh
DOI: 10.12659/AJCR.932215
Am J Case Rep 2021; 22:e932215
3,304 1,723 0

22 Jul 2021 : Case report
Unusual Movement Disorders and Atypical Magnetic Resonance Imaging (MRI) Findings in Patients with West Nile Encephalitis: Case Reports of 2 Patients with Evidence of Clinical and Imaging Resolution with IVIG
Irfan S. Sheikh, Ehad Afreen, Ajaz Sheikh
DOI: 10.12659/AJCR.932215
Am J Case Rep 2021; 22:e932215
3304 1723 0

20 Jul 2021 : Case report
A Unique Technique for Precise Targeting in Treatment of Rare Bifocal Intraosseous Ganglion Cysts of the Talus: A Case Report and Review of the Literature
Antonios Kouzelis, Irini Tatani, Andreas Panagopoulos, Eleftheria Antoniadou, Aikaterini Solomou, Dimitra Koumoundourou, Zinon T. Kokkalis, Vasileios Athanasiou, Georgios M. Diamantakis, Evangelia Mendrinou
DOI: 10.12659/AJCR.932261
Am J Case Rep 2021; 22:e932261
3,577 1,820 0

20 Jul 2021 : Case report
A Unique Technique for Precise Targeting in Treatment of Rare Bifocal Intraosseous Ganglion Cysts of the Talus: A Case Report and Review of the Literature
Antonios Kouzelis, Irini Tatani, Andreas Panagopoulos, Eleftheria Antoniadou, Aikaterini Solomou, Dimitra Koumoundourou, Zinon T. Kokkalis, Vasileios Athanasiou, Georgios M. Diamantakis, Evangelia Mendrinou
DOI: 10.12659/AJCR.932261
Am J Case Rep 2021; 22:e932261
3577 1820 0

20 Jul 2021 : Case report
A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant
Irena Jankowska, Joanna Pawłowska, Marek Szymczak, Hor Ismail, Dorota Broniszczak, Joanna Cielecka-Kuszyk, Piotr Socha, Dorota Jarzębicka, Piotr Czubkowski
DOI: 10.12659/AJCR.932374
Am J Case Rep 2021; 22:e932374
3,060 1,309 0

20 Jul 2021 : Case report
A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant
Irena Jankowska, Joanna Pawłowska, Marek Szymczak, Hor Ismail, Dorota Broniszczak, Joanna Cielecka-Kuszyk, Piotr Socha, Dorota Jarzębicka, Piotr Czubkowski
DOI: 10.12659/AJCR.932374
Am J Case Rep 2021; 22:e932374
3060 1309 0

19 Jul 2021 : Case report
A Rare Cause of Chronic Liver Disease Diagnosed by Endoscopic Ultrasound-Guided Liver Biopsy
Nourah A. Alajeel, Mohammad Shehab
, Issam Francis, Ali Alali
DOI: 10.12659/AJCR.933002
Am J Case Rep 2021; 22:e933002
2,794 1,516 0

19 Jul 2021 : Case report
A Rare Cause of Chronic Liver Disease Diagnosed by Endoscopic Ultrasound-Guided Liver Biopsy
Nourah A. Alajeel, Mohammad Shehab
, Issam Francis, Ali Alali
DOI: 10.12659/AJCR.933002
Am J Case Rep 2021; 22:e933002
2794 1516 0

13 Jul 2021 : Case report
Congenital Dual Internal Hernias Causing Small Bowel Obstruction in a Man with no Prior Surgical History: A Report of a Very Rare Case
Shariful Islam, Aneela N. Shah, Sarah Dial, Avidesh Mahabir
, Patrick Harnarayan, Vijay Naraynsingh
DOI: 10.12659/AJCR.932132
Am J Case Rep 2021; 22:e932132
2,559 1,080 0

13 Jul 2021 : Case report
Congenital Dual Internal Hernias Causing Small Bowel Obstruction in a Man with no Prior Surgical History: A Report of a Very Rare Case
Shariful Islam, Aneela N. Shah, Sarah Dial, Avidesh Mahabir
, Patrick Harnarayan, Vijay Naraynsingh
DOI: 10.12659/AJCR.932132
Am J Case Rep 2021; 22:e932132
2559 1080 0
In Press
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Am J Case Rep In Press; DOI: 10.12659/AJCR.949976
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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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