Rare disease

23 May 2024 : Case report
Duodenal Soft Tissue Sarcoma with GLI1 Gene Rearrangement: A Case Report and Literature Review
Jinghe Li
, Ling Zuo, Li Tang, Xiaochu Yan, Shengkai Chen
DOI: 10.12659/AJCR.943271
Am J Case Rep 2024; 25:e943271
2,184 2,958 0

23 May 2024 : Case report
Duodenal Soft Tissue Sarcoma with GLI1 Gene Rearrangement: A Case Report and Literature Review
Jinghe Li
, Ling Zuo, Li Tang, Xiaochu Yan, Shengkai Chen
DOI: 10.12659/AJCR.943271
Am J Case Rep 2024; 25:e943271
2184 2958 0

22 May 2024 : Case report
Epigastric Pain and Dysphagia in a 36-Year-Old Man Due to Primary Esophageal Small Cell Carcinoma
Parisa Aijaz, Muhammad Ahsen Niazi, Harleen Kaur Chela, Kamran Zahid, Ebubekir Daglilar
DOI: 10.12659/AJCR.943392
Am J Case Rep 2024; 25:e943392
3,029 3,214 0

22 May 2024 : Case report
Epigastric Pain and Dysphagia in a 36-Year-Old Man Due to Primary Esophageal Small Cell Carcinoma
Parisa Aijaz, Muhammad Ahsen Niazi, Harleen Kaur Chela, Kamran Zahid, Ebubekir Daglilar
DOI: 10.12659/AJCR.943392
Am J Case Rep 2024; 25:e943392
3029 3214 0

21 May 2024 : Case report
A Rare Case of Congenital Nephrogenic Diabetes Insipidus Associated with Aquaporin 2 Gene Mutation and Subsequent Acute Lymphoblastic Leukemia: Impact of Steroids on Kidney Function
Hanan Al-Thiabat
, Abdullah Abu-Aqoulah, Dana Kanaan, Mohammad Ismail Matalka, Suleimman Al-Sweedan
DOI: 10.12659/AJCR.943597
Am J Case Rep 2024; 25:e943597
2,814 4,817 0

21 May 2024 : Case report
A Rare Case of Congenital Nephrogenic Diabetes Insipidus Associated with Aquaporin 2 Gene Mutation and Subsequent Acute Lymphoblastic Leukemia: Impact of Steroids on Kidney Function
Hanan Al-Thiabat
, Abdullah Abu-Aqoulah, Dana Kanaan, Mohammad Ismail Matalka, Suleimman Al-Sweedan
DOI: 10.12659/AJCR.943597
Am J Case Rep 2024; 25:e943597
2814 4817 0

20 May 2024 : Case report
Langerhans Cell Histiocytosis in Sphenoid Sinus: Uncommon Bone Involvement
Taynara Luisa de Mello Heliodoro
, Paulo Ronaldo Jubé Ribeiro
, Luciana Ximenes Salustiano
, Leandro Azevedo de Camargo
, Fayez Bahmad Jr.
DOI: 10.12659/AJCR.942681
Am J Case Rep 2024; 25:e942681
1,735 2,515 0

20 May 2024 : Case report
Langerhans Cell Histiocytosis in Sphenoid Sinus: Uncommon Bone Involvement
Taynara Luisa de Mello Heliodoro
, Paulo Ronaldo Jubé Ribeiro
, Luciana Ximenes Salustiano
, Leandro Azevedo de Camargo
, Fayez Bahmad Jr.
DOI: 10.12659/AJCR.942681
Am J Case Rep 2024; 25:e942681
1735 2515 0

15 May 2024 : Case report
Incidental Finding of an Asymptomatic Jejunal Schwannoma: A Rare Case Report and Review of Literature
Konstantina Katsiafliaka
, Eleni Karlafti, Georgios Tzikos
, Patroklos Goulas, Apostolos Zatagias, Angeliki Vouchara, Elisavet Psoma, Anastasia Tsakona, Georgios Petrakis
, Daniel Paramythiotis
DOI: 10.12659/AJCR.942881
Am J Case Rep 2024; 25:e942881
1,838 2,146 0

15 May 2024 : Case report
Incidental Finding of an Asymptomatic Jejunal Schwannoma: A Rare Case Report and Review of Literature
Konstantina Katsiafliaka
, Eleni Karlafti, Georgios Tzikos
, Patroklos Goulas, Apostolos Zatagias, Angeliki Vouchara, Elisavet Psoma, Anastasia Tsakona, Georgios Petrakis
, Daniel Paramythiotis
DOI: 10.12659/AJCR.942881
Am J Case Rep 2024; 25:e942881
1838 2146 0

10 May 2024 : Case report
Uncommon Combination of Hemoglobin Jax and Hemoglobin Constant Spring Leading to Microcytic Anemia
Sirichai Srichairatanakool, Chatree Chai-Adisaksopha
, Adisak Tantiworawit, Arunee Phusua, Pimlak Charoenkwan
DOI: 10.12659/AJCR.943560
Am J Case Rep 2024; 25:e943560
1,623 2,080 0

10 May 2024 : Case report
Uncommon Combination of Hemoglobin Jax and Hemoglobin Constant Spring Leading to Microcytic Anemia
Sirichai Srichairatanakool, Chatree Chai-Adisaksopha
, Adisak Tantiworawit, Arunee Phusua, Pimlak Charoenkwan
DOI: 10.12659/AJCR.943560
Am J Case Rep 2024; 25:e943560
1623 2080 0

08 May 2024 : Case report
Chlamydia psittaci Pneumonia: Diagnosis, Treatment, and Challenges in the Context of COVID-19
Zhengbing Wu, Jun Liu, Shifeng Shao
DOI: 10.12659/AJCR.942921
Am J Case Rep 2024; 25:e942921
3,446 3,812 0

08 May 2024 : Case report
Chlamydia psittaci Pneumonia: Diagnosis, Treatment, and Challenges in the Context of COVID-19
Zhengbing Wu, Jun Liu, Shifeng Shao
DOI: 10.12659/AJCR.942921
Am J Case Rep 2024; 25:e942921
3446 3812 0

06 May 2024 : Case report
Medial Hoffa Fracture: A Case Report and Literature Review of Approach and Management
Alaa Akel, Mohammed Yahia Sarhan, Mohammad Abu-Jeyyab
, Salah Tewfik Daradkeh, Suhaib Moseley, Mohammad Saeed Dawoud
DOI: 10.12659/AJCR.943136
Am J Case Rep 2024; 25:e943136
2,258 4,570 0

06 May 2024 : Case report
Medial Hoffa Fracture: A Case Report and Literature Review of Approach and Management
Alaa Akel, Mohammed Yahia Sarhan, Mohammad Abu-Jeyyab
, Salah Tewfik Daradkeh, Suhaib Moseley, Mohammad Saeed Dawoud
DOI: 10.12659/AJCR.943136
Am J Case Rep 2024; 25:e943136
2258 4570 0

02 May 2024 : Case report
Jejunal Diverticulosis Causing Small Intestinal Volvulus and Closed Loop Obstruction
Leo I. Amodu
, Breana A. Boyd, Viktor Smirnov
DOI: 10.12659/AJCR.943376
Am J Case Rep 2024; 25:e943376
1,886 2,331 0

02 May 2024 : Case report
Jejunal Diverticulosis Causing Small Intestinal Volvulus and Closed Loop Obstruction
Leo I. Amodu
, Breana A. Boyd, Viktor Smirnov
DOI: 10.12659/AJCR.943376
Am J Case Rep 2024; 25:e943376
1886 2331 0

01 May 2024 : Case report
Successful Endovascular Microembolization for Post-Traumatic High-Flow Priapism: A Case Report
Michał S. Proczka
, Krzysztof Lamparski
, Matthias Waliszewski
, Ireneusz Nawrot, Zbigniew Gałązka
DOI: 10.12659/AJCR.943467
Am J Case Rep 2024; 25:e943467
1,324 1,889 0

01 May 2024 : Case report
Successful Endovascular Microembolization for Post-Traumatic High-Flow Priapism: A Case Report
Michał S. Proczka
, Krzysztof Lamparski
, Matthias Waliszewski
, Ireneusz Nawrot, Zbigniew Gałązka
DOI: 10.12659/AJCR.943467
Am J Case Rep 2024; 25:e943467
1324 1889 0

28 Apr 2024 : Case report
Contrast-Enhanced Ultrasonography in Diagnosing Intravascular Large B-Cell Lymphoma Infiltrating Liver Sinusoids
Hikari Ota, Satoshi Nakayama, Hiroaki Takeo, Sadahiro Watanabe, Kazuhiro Masuoka
DOI: 10.12659/AJCR.943070
Am J Case Rep 2024; 25:e943070
2,856 2,452 0

28 Apr 2024 : Case report
Contrast-Enhanced Ultrasonography in Diagnosing Intravascular Large B-Cell Lymphoma Infiltrating Liver Sinusoids
Hikari Ota, Satoshi Nakayama, Hiroaki Takeo, Sadahiro Watanabe, Kazuhiro Masuoka
DOI: 10.12659/AJCR.943070
Am J Case Rep 2024; 25:e943070
2856 2452 0

27 Apr 2024 : Case report
A Rare Autochthonous Case of Hepatic Hydatid Cyst in the Non-Endemic Region of Taiwan
Mao-Yuan Chen, Tsung-Lin Chen
DOI: 10.12659/AJCR.943687
Am J Case Rep 2024; 25:e943687
1,640 2,001 0

27 Apr 2024 : Case report
A Rare Autochthonous Case of Hepatic Hydatid Cyst in the Non-Endemic Region of Taiwan
Mao-Yuan Chen, Tsung-Lin Chen
DOI: 10.12659/AJCR.943687
Am J Case Rep 2024; 25:e943687
1640 2001 0

26 Apr 2024 : Case report
Early Diagnosis and Successful Empirical Treatment of L1-L2 Spondylodiscitis in a 21-Month-Old Girl: A Case Report
Shaikha Mahmood Janahi, Walaa Abdulaziz Ashoor, Abeer Abdulatif Alshaikh, Raafat Hammad Seroor
DOI: 10.12659/AJCR.943010
Am J Case Rep 2024; 25:e943010
2,222 2,463 0

26 Apr 2024 : Case report
Early Diagnosis and Successful Empirical Treatment of L1-L2 Spondylodiscitis in a 21-Month-Old Girl: A Case Report
Shaikha Mahmood Janahi, Walaa Abdulaziz Ashoor, Abeer Abdulatif Alshaikh, Raafat Hammad Seroor
DOI: 10.12659/AJCR.943010
Am J Case Rep 2024; 25:e943010
2222 2463 0

26 Apr 2024 : Case report
Castleman Disease Presenting in the Neck: A Report of 3 Cases and a Literature Review
Peng Jiang, Zheng-hui Huang, Wei-ying Liu, Hong-guang Pan
DOI: 10.12659/AJCR.943214
Am J Case Rep 2024; 25:e943214
2,186 5,504 0

26 Apr 2024 : Case report
Castleman Disease Presenting in the Neck: A Report of 3 Cases and a Literature Review
Peng Jiang, Zheng-hui Huang, Wei-ying Liu, Hong-guang Pan
DOI: 10.12659/AJCR.943214
Am J Case Rep 2024; 25:e943214
2186 5504 0

25 Apr 2024 : Case report
Simultaneous Occurrence of Collagen Type III Glomerulopathy and Immunoglobulin A Nephropathy: A Rare Case Report
Noura M. Aloudah
, Samiah Hussain Moalwi
, Wafa Yahia Alnofal
DOI: 10.12659/AJCR.942770
Am J Case Rep 2024; 25:e942770
2,482 2,823 0

25 Apr 2024 : Case report
Simultaneous Occurrence of Collagen Type III Glomerulopathy and Immunoglobulin A Nephropathy: A Rare Case Report
Noura M. Aloudah
, Samiah Hussain Moalwi
, Wafa Yahia Alnofal
DOI: 10.12659/AJCR.942770
Am J Case Rep 2024; 25:e942770
2482 2823 0

24 Apr 2024 : Case report
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study
Monika Duś-Żuchowska
, Hanna Nowak
, Łukasz Kałużny
, Dariusz Rokicki
, Elżbieta Ciara
, Dorota Piekutowska-Abramczuk
, Jarosław Walkowiak
DOI: 10.12659/AJCR.943118
Am J Case Rep 2024; 25:e943118
1,669 2,172 0

24 Apr 2024 : Case report
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study
Monika Duś-Żuchowska
, Hanna Nowak
, Łukasz Kałużny
, Dariusz Rokicki
, Elżbieta Ciara
, Dorota Piekutowska-Abramczuk
, Jarosław Walkowiak
DOI: 10.12659/AJCR.943118
Am J Case Rep 2024; 25:e943118
1669 2172 0

25 Apr 2024 : Case report
Management of Nontraumatic Spontaneous Renal Hemorrhage (Wünderlich Syndrome) through Robotic-Assisted Laparoscopic Nephrectomy: A Case Series
Boju Tao, Haoxun Zhang, Guoling Zhang, Hua Liu, Le Meng, Xiangyu Zhu, Xuran Ji, Guang Jia, Ao Qi, Chunyang Wang
DOI: 10.12659/AJCR.942826
Am J Case Rep 2024; 25:e942826
1,983 2,914 0

25 Apr 2024 : Case report
Management of Nontraumatic Spontaneous Renal Hemorrhage (Wünderlich Syndrome) through Robotic-Assisted Laparoscopic Nephrectomy: A Case Series
Boju Tao, Haoxun Zhang, Guoling Zhang, Hua Liu, Le Meng, Xiangyu Zhu, Xuran Ji, Guang Jia, Ao Qi, Chunyang Wang
DOI: 10.12659/AJCR.942826
Am J Case Rep 2024; 25:e942826
1983 2914 0

23 Apr 2024 : Case report
Cardiac and Intramuscular Metastases Following Nephroureterectomy for Metachronous Urothelial Carcinoma
Hiok Yang Chan, Wan Ying Chan
, Jill Wong Su Lin
DOI: 10.12659/AJCR.942864
Am J Case Rep 2024; 25:e942864
2,414 2,233 0

23 Apr 2024 : Case report
Cardiac and Intramuscular Metastases Following Nephroureterectomy for Metachronous Urothelial Carcinoma
Hiok Yang Chan, Wan Ying Chan
, Jill Wong Su Lin
DOI: 10.12659/AJCR.942864
Am J Case Rep 2024; 25:e942864
2414 2233 0

18 Apr 2024 : Case report
Transformation of Severe Aplastic Anemia into Donor Cell Leukemia after Allogeneic Hematopoietic Stem Cell Transplantation: A Rare Case Report
Qianqian Wang, Hong Xu, Wei Yu, Lingjie Sun, Hongguo Zhao, Xue Shi
DOI: 10.12659/AJCR.943801
Am J Case Rep 2024; 25:e943801
2,667 3,225 0

18 Apr 2024 : Case report
Transformation of Severe Aplastic Anemia into Donor Cell Leukemia after Allogeneic Hematopoietic Stem Cell Transplantation: A Rare Case Report
Qianqian Wang, Hong Xu, Wei Yu, Lingjie Sun, Hongguo Zhao, Xue Shi
DOI: 10.12659/AJCR.943801
Am J Case Rep 2024; 25:e943801
2667 3225 0

14 Apr 2024 : Case report
Pancreatolithiasis: Does Management Depend on Clinical Manifestations?
Daniel Paramythiotis, Eleni Karlafti, Angeliki Sevasti Kollatou, Theodora Simou, Xanthippi Mavropoulou
, Elisavet Psoma, Vasileios Rafailidis
, Angeliki Papachristodoulou, Nikoletta Pyrrou, Aristeidis Ioannidis, Stavros Panidis, Antonios Michalopoulos
DOI: 10.12659/AJCR.942725
Am J Case Rep 2024; 25:e942725
2,617 6,132 0

14 Apr 2024 : Case report
Pancreatolithiasis: Does Management Depend on Clinical Manifestations?
Daniel Paramythiotis, Eleni Karlafti, Angeliki Sevasti Kollatou, Theodora Simou, Xanthippi Mavropoulou
, Elisavet Psoma, Vasileios Rafailidis
, Angeliki Papachristodoulou, Nikoletta Pyrrou, Aristeidis Ioannidis, Stavros Panidis, Antonios Michalopoulos
DOI: 10.12659/AJCR.942725
Am J Case Rep 2024; 25:e942725
2617 6132 0

13 Apr 2024 : Case report
Successful Superficial Blood Sampling to Localize a Fibroblast Growth Factor-23-Producing Tumor
Junjiro Rikitake, Kenji Ashida
, Ayako Nagayama, Yukihiro Inoguchi, Nao Hasuzawa, Masamichi Koganemaru, Tetsuya Hamada, Kanoko Moritaka, Mutsuyuki Demiya, Tomoki Sako, Jun Akiba, Koji Hiraoka, Masatoshi Nomura
DOI: 10.12659/AJCR.943152
Am J Case Rep 2024; 25:e943152
2,492 2,357 0

13 Apr 2024 : Case report
Successful Superficial Blood Sampling to Localize a Fibroblast Growth Factor-23-Producing Tumor
Junjiro Rikitake, Kenji Ashida
, Ayako Nagayama, Yukihiro Inoguchi, Nao Hasuzawa, Masamichi Koganemaru, Tetsuya Hamada, Kanoko Moritaka, Mutsuyuki Demiya, Tomoki Sako, Jun Akiba, Koji Hiraoka, Masatoshi Nomura
DOI: 10.12659/AJCR.943152
Am J Case Rep 2024; 25:e943152
2492 2357 0

12 Apr 2024 : Case report
Bilateral Bow Hunter Syndrome Associated with Loss of Cervical Physiological Curvature
Shengwu Wang, Youcai Bi, Yunbo Chen
DOI: 10.12659/AJCR.942609
Am J Case Rep 2024; 25:e942609
2,214 3,110 0

12 Apr 2024 : Case report
Bilateral Bow Hunter Syndrome Associated with Loss of Cervical Physiological Curvature
Shengwu Wang, Youcai Bi, Yunbo Chen
DOI: 10.12659/AJCR.942609
Am J Case Rep 2024; 25:e942609
2214 3110 0

11 Apr 2024 : Case report
Type A aortic dissection after Coronary Artery Bypass Grafting
Vusal Hajiyev
, Murad Qubadov, Leyla Maharramova, Gulnaz Dadashova, Asiman Hasanov
DOI: 10.12659/AJCR.942673
Am J Case Rep 2024; 25:e942673
3,411 2,733 0

11 Apr 2024 : Case report
Type A aortic dissection after Coronary Artery Bypass Grafting
Vusal Hajiyev
, Murad Qubadov, Leyla Maharramova, Gulnaz Dadashova, Asiman Hasanov
DOI: 10.12659/AJCR.942673
Am J Case Rep 2024; 25:e942673
3411 2733 0

09 Apr 2024 : Case report
Pause-Dependent Paroxysmal Episode of Third-Degree Atrioventricular Block Triggered by Premature Atrial Contraction
DOI: 10.12659/AJCR.943160
Am J Case Rep 2024; 25:e943160
1,469 2,106 0

09 Apr 2024 : Case report
Pause-Dependent Paroxysmal Episode of Third-Degree Atrioventricular Block Triggered by Premature Atrial Contraction
DOI: 10.12659/AJCR.943160
Am J Case Rep 2024; 25:e943160
1469 2106 0

26 Mar 2024 : Case report
A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant
Mohammed Shahab Uddin
, AlZahra Y. Alradhi
, Fahad Mushbb N. Alqathani
, Othman Saleh Alessa
, Ahmed Nawfal M. Alshammari
, Ratna Tripathy, Mohammed Ahmed Alomari
DOI: 10.12659/AJCR.942498
Am J Case Rep 2024; 25:e942498
3,077 3,025 0

26 Mar 2024 : Case report
A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant
Mohammed Shahab Uddin
, AlZahra Y. Alradhi
, Fahad Mushbb N. Alqathani
, Othman Saleh Alessa
, Ahmed Nawfal M. Alshammari
, Ratna Tripathy, Mohammed Ahmed Alomari
DOI: 10.12659/AJCR.942498
Am J Case Rep 2024; 25:e942498
3077 3025 0
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953173
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.953192
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.952818
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Am J Case Rep In Press; DOI: 10.12659/AJCR.953608
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