Rare disease

09 May 2023 : Case report
Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant
Heerali Patel, Mohammed Elkhwad, Gregory C. Martin
DOI: 10.12659/AJCR.938651
Am J Case Rep 2023; 24:e938651
3,332 2,463 0

09 May 2023 : Case report
Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant
Heerali Patel, Mohammed Elkhwad, Gregory C. Martin
DOI: 10.12659/AJCR.938651
Am J Case Rep 2023; 24:e938651
3332 2463 0

07 May 2023 : Case report
Cryptogenic Hypervirulent Klebsiella pneumoniae Pyogenic Liver Abscess: A Case Report
Jennifer Leigh, Reza Naghdi
DOI: 10.12659/AJCR.939322
Am J Case Rep 2023; 24:e939322
3,893 2,255 0

07 May 2023 : Case report
Cryptogenic Hypervirulent Klebsiella pneumoniae Pyogenic Liver Abscess: A Case Report
Jennifer Leigh, Reza Naghdi
DOI: 10.12659/AJCR.939322
Am J Case Rep 2023; 24:e939322
3893 2255 0

05 May 2023 : Case report
Anterior Descending Coronary Artery Pseudoaneurysm in an 85-Year-Old Male Hemodialysis Patient: A Surgical Case Report
Masato Hayakawa
, Motomu Miyagi, Akira Hirata
, Maki Ogawa, Ryo Ikemura, Satoshi Yamashiro, Kiyoshi Iha
DOI: 10.12659/AJCR.939200
Am J Case Rep 2023; 24:e939200
2,818 2,133 0

05 May 2023 : Case report
Anterior Descending Coronary Artery Pseudoaneurysm in an 85-Year-Old Male Hemodialysis Patient: A Surgical Case Report
Masato Hayakawa
, Motomu Miyagi, Akira Hirata
, Maki Ogawa, Ryo Ikemura, Satoshi Yamashiro, Kiyoshi Iha
DOI: 10.12659/AJCR.939200
Am J Case Rep 2023; 24:e939200
2818 2133 0

02 May 2023 : Case report
A Huge Malignant Ovarian Tumor: A Case Report
Brahmana Askandar Tjokroprawiro
, Khoirunnisa Novitasari
, Renata Alya Ulhaq
DOI: 10.12659/AJCR.939387
Am J Case Rep 2023; 24:e939387
6,344 6,382 0

02 May 2023 : Case report
A Huge Malignant Ovarian Tumor: A Case Report
Brahmana Askandar Tjokroprawiro
, Khoirunnisa Novitasari
, Renata Alya Ulhaq
DOI: 10.12659/AJCR.939387
Am J Case Rep 2023; 24:e939387
6344 6382 0

01 May 2023 : Case report
Chest Tightness with Cycling Turned Out To Be Pneumomediastinum
Fahad Zafar, Ommar Afzal
DOI: 10.12659/AJCR.939170
Am J Case Rep 2023; 24:e939170
2,462 1,720 0

01 May 2023 : Case report
Chest Tightness with Cycling Turned Out To Be Pneumomediastinum
Fahad Zafar, Ommar Afzal
DOI: 10.12659/AJCR.939170
Am J Case Rep 2023; 24:e939170
2462 1720 0

30 Apr 2023 : Case report
Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab
DOI: 10.12659/AJCR.938896
Am J Case Rep 2023; 24:e938896
6,047 2,135 0

30 Apr 2023 : Case report
Atypical Hemolytic Uremic Syndrome in a Pregnant Patient with a Thrombomodulin Gene Variant Treated with Plasma Exchange and Eculizumab
DOI: 10.12659/AJCR.938896
Am J Case Rep 2023; 24:e938896
6047 2135 0

26 Apr 2023 : Case report
Rare Case of Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome with Monoclonal Gammopathy of Undetermined Significance
Alpana Garg
, Alexander A. Garza, Sachin Goyal, Petar Lenert
DOI: 10.12659/AJCR.939650
Am J Case Rep 2023; 24:e939650
3,175 2,576 0

26 Apr 2023 : Case report
Rare Case of Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome with Monoclonal Gammopathy of Undetermined Significance
Alpana Garg
, Alexander A. Garza, Sachin Goyal, Petar Lenert
DOI: 10.12659/AJCR.939650
Am J Case Rep 2023; 24:e939650
3175 2576 0

24 Apr 2023 : Case report
An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome
Christoforos S. Kosmidis, Christina Michael, Chrysi Maria Mystakidou, Vasiliki Theodorou, Evanthia Papadopoulou, Konstantina Papadopoulou, Charilaos Koulouris, Nikolaos Varsamis, Georgios Koimtzis
, Panagiota Roullia, Marios Ntager, Christina Sevva
, Nikolaos Iason Katsios, Ioannis Charalampous, Katerina Zarampouka, Sofia Baka
DOI: 10.12659/AJCR.939117
Am J Case Rep 2023; 24:e939117
3,008 2,507 0

24 Apr 2023 : Case report
An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome
Christoforos S. Kosmidis, Christina Michael, Chrysi Maria Mystakidou, Vasiliki Theodorou, Evanthia Papadopoulou, Konstantina Papadopoulou, Charilaos Koulouris, Nikolaos Varsamis, Georgios Koimtzis
, Panagiota Roullia, Marios Ntager, Christina Sevva
, Nikolaos Iason Katsios, Ioannis Charalampous, Katerina Zarampouka, Sofia Baka
DOI: 10.12659/AJCR.939117
Am J Case Rep 2023; 24:e939117
3008 2507 0

24 Apr 2023 : Case report
Jessner’s Lymphocytic Infiltration of the Skin in a 73-Year-Old Woman: A Case Report
Carmen Elena Sánchez, María del Carmen Cabezas, Silvana Narváez, Henry Jaramillo, Camila Miño
DOI: 10.12659/AJCR.938969
Am J Case Rep 2023; 24:e938969
3,073 3,383 0

24 Apr 2023 : Case report
Jessner’s Lymphocytic Infiltration of the Skin in a 73-Year-Old Woman: A Case Report
Carmen Elena Sánchez, María del Carmen Cabezas, Silvana Narváez, Henry Jaramillo, Camila Miño
DOI: 10.12659/AJCR.938969
Am J Case Rep 2023; 24:e938969
3073 3383 0

23 Apr 2023 : Case report
Kidney Transplantation from a Deceased Donor with COVID-19 Ad26.COV2-S Vaccine-Induced Thrombotic Thrombocytopenia
Ivan Neretljak, Franjo Jurenec, Hrvoje Smojver, Zeljka Jurekovic
DOI: 10.12659/AJCR.938730
Am J Case Rep 2023; 24:e938730
3,064 2,038 0

23 Apr 2023 : Case report
Kidney Transplantation from a Deceased Donor with COVID-19 Ad26.COV2-S Vaccine-Induced Thrombotic Thrombocytopenia
Ivan Neretljak, Franjo Jurenec, Hrvoje Smojver, Zeljka Jurekovic
DOI: 10.12659/AJCR.938730
Am J Case Rep 2023; 24:e938730
3064 2038 0

22 Apr 2023 : Case report
Classical Presentation of Disseminated Blastomycosis in a 44-Year-Old Healthy Man 3 Months After Diagnosis of COVID-19
Diana Fan, Ali Ahmad
, Jared Frisby, Kavita Darji, Ashley Ojeaga, Ramona Behshad, M. Yadira Hurley, Mallory Abate, Paul Kunnath
DOI: 10.12659/AJCR.938659
Am J Case Rep 2023; 24:e938659
3,872 3,576 0

22 Apr 2023 : Case report
Classical Presentation of Disseminated Blastomycosis in a 44-Year-Old Healthy Man 3 Months After Diagnosis of COVID-19
Diana Fan, Ali Ahmad
, Jared Frisby, Kavita Darji, Ashley Ojeaga, Ramona Behshad, M. Yadira Hurley, Mallory Abate, Paul Kunnath
DOI: 10.12659/AJCR.938659
Am J Case Rep 2023; 24:e938659
3872 3576 0

20 Apr 2023 : Case report
Dermoid Cyst of the Parotid Gland: Case Report of a Rare Entity and Review of the Literature
Zahra Z. Alhusain, Karolina Witczak, Ahmed Shabaik
DOI: 10.12659/AJCR.939411
Am J Case Rep 2023; 24:e939411
4,409 2,051 0

20 Apr 2023 : Case report
Dermoid Cyst of the Parotid Gland: Case Report of a Rare Entity and Review of the Literature
Zahra Z. Alhusain, Karolina Witczak, Ahmed Shabaik
DOI: 10.12659/AJCR.939411
Am J Case Rep 2023; 24:e939411
4409 2051 0

27 Apr 2023 : Case report
Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care
Aisyah Kamal, Johanes Dedi Kanchau, Nur Syahirah Shahuri, Mohamed-Syarif Mohamed-Yassin, Noorhida Baharudin, Suraya Abdul Razak, Siti Fatimah Badlishah-Sham, Hasidah Abdul-Hamid, Aznida Firzah Abdul Aziz, Alyaa Al-Khateeb, Yung An Chua, Noor Alicezah Mohd Kasim, Siti Hamimah Sheikh Abdul Kadir, Hapizah Nawawi, Nadeem Qureshi, Anis Safura Ramli
DOI: 10.12659/AJCR.939489
Am J Case Rep 2023; 24:e939489
3,648 3,827 0

27 Apr 2023 : Case report
Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care
Aisyah Kamal, Johanes Dedi Kanchau, Nur Syahirah Shahuri, Mohamed-Syarif Mohamed-Yassin, Noorhida Baharudin, Suraya Abdul Razak, Siti Fatimah Badlishah-Sham, Hasidah Abdul-Hamid, Aznida Firzah Abdul Aziz, Alyaa Al-Khateeb, Yung An Chua, Noor Alicezah Mohd Kasim, Siti Hamimah Sheikh Abdul Kadir, Hapizah Nawawi, Nadeem Qureshi, Anis Safura Ramli
DOI: 10.12659/AJCR.939489
Am J Case Rep 2023; 24:e939489
3648 3827 0

17 Apr 2023 : Case report
Acute Deterioration of Patient with Sudden Onset of Shock Caused by Group G Streptococcus Infection after Revision Total Knee Arthroplasty: A Case Report
Kensuke Wada, Tomoyuki Matsumoto, Kemmei Ikuta, Masanori Tsubosaka, Naoki Nakano, Toshihisa Maeda
, Yuichi Kuroda, Shinya Hayashi, Ryosuke Kuroda
DOI: 10.12659/AJCR.938905
Am J Case Rep 2023; 24:e938905
4,043 2,055 0

17 Apr 2023 : Case report
Acute Deterioration of Patient with Sudden Onset of Shock Caused by Group G Streptococcus Infection after Revision Total Knee Arthroplasty: A Case Report
Kensuke Wada, Tomoyuki Matsumoto, Kemmei Ikuta, Masanori Tsubosaka, Naoki Nakano, Toshihisa Maeda
, Yuichi Kuroda, Shinya Hayashi, Ryosuke Kuroda
DOI: 10.12659/AJCR.938905
Am J Case Rep 2023; 24:e938905
4043 2055 0

15 Apr 2023 : Case report
Adjuvant Radiotherapy for Dissected Parotid Lymph Nodes Containing Merkel Cell Carcinoma from an Unknown Primary Skin Site: 2 Case Reports
Tzu-Yun Lai, Fang-Hui Liu, Peng-An Lai, Chi-Yuan Peter Yeh
DOI: 10.12659/AJCR.939183
Am J Case Rep 2023; 24:e939183
2,452 1,867 0

15 Apr 2023 : Case report
Adjuvant Radiotherapy for Dissected Parotid Lymph Nodes Containing Merkel Cell Carcinoma from an Unknown Primary Skin Site: 2 Case Reports
Tzu-Yun Lai, Fang-Hui Liu, Peng-An Lai, Chi-Yuan Peter Yeh
DOI: 10.12659/AJCR.939183
Am J Case Rep 2023; 24:e939183
2452 1867 0

13 Apr 2023 : Case report
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up
Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi
, Hidehito Kondo, Erina Nakahara
, Keiko Shimojima Yamamoto
, Hitoshi Kanno
, Yoshinori Katayama
DOI: 10.12659/AJCR.938396
Am J Case Rep 2023; 24:e938396
2,739 2,175 0

13 Apr 2023 : Case report
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up
Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi
, Hidehito Kondo, Erina Nakahara
, Keiko Shimojima Yamamoto
, Hitoshi Kanno
, Yoshinori Katayama
DOI: 10.12659/AJCR.938396
Am J Case Rep 2023; 24:e938396
2739 2175 0

17 Apr 2023 : Case report
Chondro-Cutaneous Autograft for Reconstruction of the Nasal Ala After a Human Bite
Bartolo Corradino, Sara Di Lorenzo, Andrea Pio Cascino
DOI: 10.12659/AJCR.939242
Am J Case Rep 2023; 24:e939242
2,357 2,147 0

17 Apr 2023 : Case report
Chondro-Cutaneous Autograft for Reconstruction of the Nasal Ala After a Human Bite
Bartolo Corradino, Sara Di Lorenzo, Andrea Pio Cascino
DOI: 10.12659/AJCR.939242
Am J Case Rep 2023; 24:e939242
2357 2147 0

19 Apr 2023 : Case report
A Case of a Refractory Bleeding Giant Vaginal Wall Cavernous Hemangioma Successfully Managed with Sclerotherapy
Mari Fukuoka, Toshiyuki Okumura, Ayato Hayashi, Natsumi Takeda, Akari Koizumi, Takafumi Ujihira, Shintaro Makino
DOI: 10.12659/AJCR.939474
Am J Case Rep 2023; 24:e939474
6,149 5,878 0

19 Apr 2023 : Case report
A Case of a Refractory Bleeding Giant Vaginal Wall Cavernous Hemangioma Successfully Managed with Sclerotherapy
Mari Fukuoka, Toshiyuki Okumura, Ayato Hayashi, Natsumi Takeda, Akari Koizumi, Takafumi Ujihira, Shintaro Makino
DOI: 10.12659/AJCR.939474
Am J Case Rep 2023; 24:e939474
6149 5878 0

06 Apr 2023 : Case report
Laparoscopic Treatment of Primary Colon Melanoma: A Case Study
Biser Petrov, Plamen Milanov Petrov, Stoian Anguelov Alexov, Gyuner Hadzhiev, Teodora Vukova
DOI: 10.12659/AJCR.938914
Am J Case Rep 2023; 24:e938914
1,554 1,186 0

06 Apr 2023 : Case report
Laparoscopic Treatment of Primary Colon Melanoma: A Case Study
Biser Petrov, Plamen Milanov Petrov, Stoian Anguelov Alexov, Gyuner Hadzhiev, Teodora Vukova
DOI: 10.12659/AJCR.938914
Am J Case Rep 2023; 24:e938914
1554 1186 0

03 Apr 2023 : Case report
Acute Occlusion of the Abdominal Aorta Associated with Left Ventricular Thrombus: A Case Report
Xuan Zhang, Hao Zou, Yuan Rong
DOI: 10.12659/AJCR.939095
Am J Case Rep 2023; 24:e939095
2,380 1,692 0

03 Apr 2023 : Case report
Acute Occlusion of the Abdominal Aorta Associated with Left Ventricular Thrombus: A Case Report
Xuan Zhang, Hao Zou, Yuan Rong
DOI: 10.12659/AJCR.939095
Am J Case Rep 2023; 24:e939095
2380 1692 0

01 Apr 2023 : Case report
A Rare Nasopharyngeal Adenoid Cystic Carcinoma: Case Report and Literature Review
Nawaf M. Alsubaie
, Ahmed Alhussien
, Abdulrahman Alghulikah, Saleh Alabood, Mohammed Alsukayt, Ibrahim Alarifi
DOI: 10.12659/AJCR.938858
Am J Case Rep 2023; 24:e938858
4,982 3,242 0

01 Apr 2023 : Case report
A Rare Nasopharyngeal Adenoid Cystic Carcinoma: Case Report and Literature Review
Nawaf M. Alsubaie
, Ahmed Alhussien
, Abdulrahman Alghulikah, Saleh Alabood, Mohammed Alsukayt, Ibrahim Alarifi
DOI: 10.12659/AJCR.938858
Am J Case Rep 2023; 24:e938858
4982 3242 0

27 Mar 2023 : Case report
An Isolated Laminar Osteoma Arising in the Maxillary Sinus
Takaharu Taketomi, Kouhei Imayama, Ken Nakamura, Jingo Kusukawa
DOI: 10.12659/AJCR.938904
Am J Case Rep 2023; 24:e938904
3,090 2,460 0

27 Mar 2023 : Case report
An Isolated Laminar Osteoma Arising in the Maxillary Sinus
Takaharu Taketomi, Kouhei Imayama, Ken Nakamura, Jingo Kusukawa
DOI: 10.12659/AJCR.938904
Am J Case Rep 2023; 24:e938904
3090 2460 0

24 Mar 2023 : Case report
Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature
Corban P. Goodman, Hyunsoo Park, Georgi D. Mladenov
, Steven L. Raymond, Andrew Sundin
, Andrei Radulescu, Faraz A. Khan
DOI: 10.12659/AJCR.938248
Am J Case Rep 2023; 24:e938248
4,666 2,465 0

24 Mar 2023 : Case report
Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature
Corban P. Goodman, Hyunsoo Park, Georgi D. Mladenov
, Steven L. Raymond, Andrew Sundin
, Andrei Radulescu, Faraz A. Khan
DOI: 10.12659/AJCR.938248
Am J Case Rep 2023; 24:e938248
4666 2465 0

22 Mar 2023 : Case report
An 18-Year-Old Female Athlete Presenting with Knee Pain Following a Basketball Game and Diagnosed with Bilateral Patellar Stress Fractures
Nireet K. Dhillon
, Garrett R. Jackson, Daniel J. Kaplan
, Nikhil N. Verma
DOI: 10.12659/AJCR.938420
Am J Case Rep 2023; 24:e938420
6,253 4,446 0

22 Mar 2023 : Case report
An 18-Year-Old Female Athlete Presenting with Knee Pain Following a Basketball Game and Diagnosed with Bilateral Patellar Stress Fractures
Nireet K. Dhillon
, Garrett R. Jackson, Daniel J. Kaplan
, Nikhil N. Verma
DOI: 10.12659/AJCR.938420
Am J Case Rep 2023; 24:e938420
6253 4446 0

21 Mar 2023 : Case report
Perioperative Management of Recurrent Hemophagocytic Syndrome in a Pregnant Woman: A Case Report
Ayako Sumii, Hirotsugu Miyoshi
, Takahiro Kato
, Sachiko Otsuki, Yousuke T. Horikawa, Shiho Satomi, Noboru Saeki, Yusuke Yoshida, Yasuo M. Tsutsumi
DOI: 10.12659/AJCR.939369
Am J Case Rep 2023; 24:e939369
2,206 1,313 0

21 Mar 2023 : Case report
Perioperative Management of Recurrent Hemophagocytic Syndrome in a Pregnant Woman: A Case Report
Ayako Sumii, Hirotsugu Miyoshi
, Takahiro Kato
, Sachiko Otsuki, Yousuke T. Horikawa, Shiho Satomi, Noboru Saeki, Yusuke Yoshida, Yasuo M. Tsutsumi
DOI: 10.12659/AJCR.939369
Am J Case Rep 2023; 24:e939369
2206 1313 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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