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  1. 5p deletion syndrome is known as cri-du-chat syndrome, but there are no reports on congenital diaphragmatic hernia complications associated with it.

    Authors: Tomomi Kotani, Takafumi Ushida, Noriyuki Nakamura, Kenji Imai, Yukako Iitani, Sho Tano, Shigenori Iwagaki, Yuichiro Takahashi, Miharu Ito, Masahiro Hayakawa and Hiroaki Kajiyama
    Citation: Journal of Medical Case Reports 2022 16:390
  2. Atrial fibrillation is one of the most common arrhythmias. The main thrombotic complication of arterial fibrillation is ischemic stroke, but it can also cause acute renal infarction from embolization. The low ...

    Authors: Tao Ge, ZhengCai Zhu, Jinfeng Wang, Wenjiao Zhou, Evelyn J. Song and Shengxing Tang
    Citation: Journal of Medical Case Reports 2022 16:381
  3. Cavernous venous malformation is an uncommon entity that occurs in around 0.5% of the general population. Cerebellar cavernous venous malformation accounts for 1.2–11.8% of intracranial cavernous venous malfor...

    Authors: A. H. Ibrahim, N. Mohamad, T. A. Mohd Yusof Rasid and M. S. Abdullah
    Citation: Journal of Medical Case Reports 2022 16:380
  4. Pulmonary arterial hypertension is a progressive, debilitating condition characterized by increased resistance in the pulmonary arterial circulation. Current treatments for pulmonary arterial hypertension incl...

    Authors: Mariangela Lattanzio, Marco Ferrari, Stefano Martini, Francesca Ceriani, Andrea Imporzani, Franca Marino, Roberto De Ponti and Marco Cosentino
    Citation: Journal of Medical Case Reports 2022 16:385
  5. An acute abdomen can have a variety of causes. A commonly missed cause of abdominal pain is direct substance abuse and its sequelae. The use of methamphetamine is rising in the United States resulting in signi...

    Authors: Surendra Sapkota, Sarah David, Sandipa Sharma, Suraj Shrestha and Abhishek Kalla
    Citation: Journal of Medical Case Reports 2022 16:379
  6. Sjogren’s syndrome, an autoimmune disease of the exocrine glands, results in keratoconjunctivitis sicca, xerostomia, and dental caries. It is often overlooked, considered by clinicians to be a benign disease. ...

    Authors: Maen D. Abou Ziki, Roy Taoutel, Julian C. Hong and David N. Podell
    Citation: Journal of Medical Case Reports 2022 16:374
  7. Flexor tendon sheath infection may be due to trauma, laceration, or bites, commonly directly inoculating the sheath. Kanavel cardinal signs in flexor tendon sheath infection cases consist of symmetrical swelli...

    Authors: Gregorius Batara Putra Setia Sutardi, De Is M. Rizal Chaidir and Yoyos Dias Ismiarto
    Citation: Journal of Medical Case Reports 2022 16:373
  8. One of the most common types of congenital adrenal hyperplasia is an autosomal recessive disorder with 21-hydroxylase deficiency. The classical form, defined by cortisol insufficiency, is accompanied by prenat...

    Authors: Nada Dehneh, Rami Jarjour, Sahar Idelbi, Assad Alibrahem and Sahar Al Fahoum
    Citation: Journal of Medical Case Reports 2022 16:371
  9. Collapsing glomerulopathy, characterized by marked hypertrophy and hyperplasia of the podocytes with eventual collapse of the glomerular tuft, is an important cause of end-stage renal disease. Among the many c...

    Authors: Matas Orentas, Nilam Patel, Roger Rodby and Sobia Hassan
    Citation: Journal of Medical Case Reports 2022 16:370
  10. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome is a rare mitochondrial genetic disorder that can present with a variety of clinical manifestations, including stroke, hearing...

    Authors: Ahmad F. Alenezi, Mariam A. Almelahi, Feten Fekih-Romdhana and Haitham A. Jahrami
    Citation: Journal of Medical Case Reports 2022 16:361
  11. Due to indels in the β-globin gene, patients with β-thalassemia major exhibit a range of severity, with genotype β0β0 > β0β+ > β+β+, according to the production level of the β-globin chain. More than 300 mutation...

    Authors: Waseem Chauhan, Rafat Fatma, Zeeba Zaka-ur-Rab and Mohammad Afzal
    Citation: Journal of Medical Case Reports 2022 16:362
  12. Peyronie’s disease is a chronic inflammatory condition of the corpora cavernosa characterized by the formation of plaque in the tunica albuginea, which results in penile deformity. Conservative medical approac...

    Authors: Gianni Paulis and Giovanni De Giorgio
    Citation: Journal of Medical Case Reports 2022 16:359
  13. Epidermolysis bullosa is a rare inherited connective tissue disorder compromising cellular junctions. Blister formation is the first manifestation of epidermolysis bullosa. As cellular adhesion is affected, it...

    Authors: Soheil Dehghani, Boshra Akbarzadeh Pasha, Amirali Karimi and Azadeh Afshin
    Citation: Journal of Medical Case Reports 2022 16:358
  14. Oral manifestations of coronavirus disease 2019 (COVID-19), including ulcers, herpetiform lesions, macules, and petechiae, among others, are becoming increasingly recognized, but there is little guidance on th...

    Authors: Saira Chaughtai, Zeeshan Chaughtai and Arif Asif
    Citation: Journal of Medical Case Reports 2022 16:367
  15. We present this case to draw attention to the importance of early diagnosis in terms of life-saving, noting that greater awareness is important among healthcare professionals. Our patient developed neuroleptic...

    Authors: Chee Keong Chang, Alvin Oliver Payus, Malehah Mohd Noh, Meryl Grace Lansing, Doreen Sumpat, Sooth Jiun Andrea Lu and Boon Teong Yew
    Citation: Journal of Medical Case Reports 2022 16:366
  16. Outbreaks of methanol poisoning have been described in the medical literature in different regions around the world. Even though in Saudi Arabia a few outbreaks of methanol poisoning have occurred, they remain...

    Authors: Rawan Eskandrani, Khalid Almulhim, Abdulla Altamimi, Abeer Alhaj, Shahd Alnasser, Laale Alawi, Eman Aldweikh, Khalid Alaufi and Bandr Mzahim
    Citation: Journal of Medical Case Reports 2022 16:357
  17. Primary squamous cell carcinoma of the thyroid is a very rare malignancy with aggressive growth and poor prognosis. There is currently no consensus for treatment modality, however, most patients with primary s...

    Authors: Meng-Lun Hsieh, Brian M. Besch, Jo Elle G. Peterson and Christina Henson
    Citation: Journal of Medical Case Reports 2022 16:364
  18. Pancreatic panniculitis is characterized by subcutaneous fat necrosis and is a rare presentation of an underlying pancreatic disease, appearing in approximately 2–3% of all patients with a pancreatic disease. ...

    Authors: S. M. Haenen, J. A. M. G. Tol, S. C. J. van Steen, O. R. Busch, A. Farine Sarasqueta, S. Roshani, A. Wolkerstorfer, M. M. D. van der Linden, J. W. Wilmink, H. C. Post and M. G. Besselink
    Citation: Journal of Medical Case Reports 2022 16:356
  19. Immune checkpoint inhibitors avoid inhibition of T-cell responses, upregulating antitumor immune response. Moreover, a dysregulation with hyperactive immune response can be caused, some of them underdiagnosed....

    Authors: Jaime Rubio-Perez, Ángel Ricardo Rodríguez-Perez, María Díaz-Blázquez, Victor Moreno-García and Manuel Dómine-Gómez
    Citation: Journal of Medical Case Reports 2022 16:365
  20. As the coronavirus disease 2019 infections are still ongoing, there is an increasing number of case reports and case series with various manifestations of life-threatening multisystem inflammatory syndrome in ...

    Authors: Alije Keka-Sylaj, Atifete Ramosaj, Arbana Baloku, Qëndresa Beqiraj and Petrit Gjaka
    Citation: Journal of Medical Case Reports 2022 16:352
  21. Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointest...

    Authors: Zaraq Rashid Khan, Alvina Karam, Mian Ayaz ul Haq, Aleena Aman and Ahmad Sharjeel Karam
    Citation: Journal of Medical Case Reports 2022 16:363
  22. Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration begi...

    Authors: Naim Zeka, Leonore Zogaj, Abdurrahim Gerguri, Ramush Bejiqi, Ragip Ratkoceri, Arlinda Maloku, Aferdita Mustafa, Labinot Shahini and Jeton Maxharaj
    Citation: Journal of Medical Case Reports 2022 16:360
  23. Hematomas that slowly increase in size for more than 1 month after the initial hemorrhage are referred to as chronic expanding hematomas. Chronic expanding hematoma can also occur after radiosurgery; however, ...

    Authors: Yojiro Ishikawa, Takaya Yamamoto, Rei Umezawa, Noriyoshi Takahashi, Kazuya Takeda, Yu Suzuki and Keiichi Jingu
    Citation: Journal of Medical Case Reports 2022 16:353
  24. Persistent descending mesocolon, an anomaly of fixation of the mesentery of the descending colon, can sometimes cause complications such as intestinal obstruction and intussusception. We present the first repo...

    Authors: Hirotaka Kato, Hiroyuki Kinoshita and Yoshifumi Sakata
    Citation: Journal of Medical Case Reports 2022 16:349
  25. Duplication of urethra is a very rare congenital disorder. Several types of this anomaly have been reported around the world, and are also discussed in this report. However, the mechanism of this anomaly is st...

    Authors: Jalil Hosseini, Saeid Abouei and Alimohammad Mirjalili
    Citation: Journal of Medical Case Reports 2022 16:355
  26. Malignant struma ovarii is a very rare type of gynecologic cancer. Although its most common histological subtype is a pure type of papillary thyroid carcinoma containing two components, papillary carcinoma and...

    Authors: Nao Terayama, Satoe Fujiwara, Shoko Ueda, Takashi Yamada and Masahide Ohmichi
    Citation: Journal of Medical Case Reports 2022 16:348
  27. Fusarium species are saprophytic fungi with a worldwide distribution. These fungi cause various infections among immunocompromised patients; however, they can also involve immunocompetent individuals.

    Authors: Fatemeh Mohaghegh, Bahareh Abtahi-Naeini, Elahe Nasri, Parisa Badiee, Hamid Morovati, Hamed Fakhim, Aida Farmani, Mohsen Meidani, Maryam Ranjbar-Mobarake and Rasoul Mohammadi
    Citation: Journal of Medical Case Reports 2022 16:346
  28. Immunoglobulin G4-related disease is characterized by swelling of various organs throughout the body and nodules/hypertrophic lesions. However, its cause remains unknown. We report a case of immunoglobulin G4-...

    Authors: Shigeyuki Aoki, Shingo Morinaga, Naoki Kawai, Haruna Tanaka, Keiko Kanematsu, Nanami Tsuchiya, Sayuri Nonomura, Akiko Ozawa, Rie Imai, Ryoko Takahashi, Tomoko Sawada, Ruriko Futamachi and Yoshiaki Yamada
    Citation: Journal of Medical Case Reports 2022 16:345
  29. Since the approval of the Pfizer–BioNTech (BNT162b2) mRNA vaccine for COVID-19 infection, a few adverse effects have been reported. Acute pancreatitis has been reported in a few patients. However, there is cur...

    Authors: Rajib Kumar Dey, Hemamala Ilango, Subash Bhatta, Ahmed Shaheed, Shanaz Dole, Ahmed Zooshan, Mohamed Faisham and Moosa Murad
    Citation: Journal of Medical Case Reports 2022 16:354
  30. Paraneoplastic limbic encephalitis is a rare neurologic syndrome that affects patients with cancer and commonly presents with symptoms of personality changes, visual disturbances, seizures, vertigo, and memory...

    Authors: Yvonne Lei and Alexandra Milin Glaeser
    Citation: Journal of Medical Case Reports 2022 16:350
  31. Targeted therapy with anaplastic lymphoma kinase inhibitor alectinib has become standard therapy for selected patients with non-small cell lung carcinoma. Few data are available on the renal effects of alectin...

    Authors: Marco van Londen, Elizabeth Roosma, Stefanie Vogels, John W. G. van Putten and Wilbert M. T. Janssen
    Citation: Journal of Medical Case Reports 2022 16:347
  32. After the introduction of antibiotics, pneumococcal pericarditis has become a rare finding. However, this severe condition with high mortality and complication rates requires rapid recognition and intervention...

    Authors: Suzan Dijkstra, Jaco H. Houtgraaf and Sanjay U. C. Sankatsing
    Citation: Journal of Medical Case Reports 2022 16:344
  33. Epidermal nevus syndrome is a group of congenital neuroectodermal and/or mesodermal disorders characterized by the epidermal nevi in common association with cerebral, eye, skeletal, cardiovascular, and renal a...

    Authors: QingQing Deng, Yan Li, ZhanLi Liu, JieLin Zhou and LingWei Weng
    Citation: Journal of Medical Case Reports 2022 16:343
  34. McCune–Albright syndrome is a complex disorder encompassing multiple endocrinopathies. These manifestations are secondary to a mutation in the stimulatory G-protein alpha subunit. Cushing syndrome is due to au...

    Authors: Christy Foster, Hiba Al Zubeidi and Alicia Diaz-Thomas
    Citation: Journal of Medical Case Reports 2022 16:342
  35. Accessory breast(s) is defined as the presence of more than two breasts with or without a nipple and areola in human beings. It may occur anywhere along the primitive embryonic milk lines, which extend from th...

    Authors: Ermias Teklehaimanot Yefter and Yitagesu Aberra Shibiru
    Citation: Journal of Medical Case Reports 2022 16:341
  36. Solar maculopathy is a well described clinical entity that usually occurs in patients that have gazed directly the sun. In this report we describe the first two cases of solar maculopathy in individuals expose...

    Authors: Joaquín Marticorena, Ana Honrubia and Javier Ascaso
    Citation: Journal of Medical Case Reports 2022 16:338
  37. This case reveals a novel presentation of drug rash with eosinophilia and systemic symptoms syndrome that mimics a lymphoproliferative disorder. The heterogeneous clinical presentation of drug rash with eosino...

    Authors: Elise Hyser
    Citation: Journal of Medical Case Reports 2022 16:336
  38. Over 1.4 million US adults identify as transgender when gender identity differs from the sex assigned at birth [1]. Although transgender patients face adverse health outcomes, they remain an understudied populati...

    Authors: Eugene Kim, Shivali Mukerji, Deen Debryn, Ryan Price, Carl Streed Jr and Ala Nozari
    Citation: Journal of Medical Case Reports 2022 16:333
  39. Spinal fractures rarely cause hemothorax, and no treatment consensus has been reached. Conservative treatment is generally selected in cases without arterial injury, but there have been some reports of uncontr...

    Authors: Naoki Matsunaga, Takuya Okada, Yuko Ono, Keigo Matsushiro, Koji Sasaki, Tomoyuki Gentsu, Eisuke Ueshima, Keitaro Sofue, Masato Yamaguchi, Koji Sugimoto and Takamichi Murakami
    Citation: Journal of Medical Case Reports 2022 16:332
  40. Patients with severe coronavirus disease 2019 (COVID-19) infection require a long period of time to return to work and society due to significant physical weakness even after recovery. Here we report a patient...

    Authors: Toru Takekawa, Kazumi Kashiwabara, Naoki Yamada, Shu Watanabe, Midori Hama, Gentaro Hashimoto, Masahiro Abo and Kyota Shinfuku
    Citation: Journal of Medical Case Reports 2022 16:339
  41. Lumbar spondylolisthesis is reported to present with a familiar pattern, with the dysplastic type of spondylolysis being minor but more hereditary than the isthmic type. Siblings presenting during adolescence ...

    Authors: Masaki Tatsumura, Toru Funayama, Fumihiko Eto, Katsuya Nagashima, Yosuke Takeuchi and Masashi Yamazaki
    Citation: Journal of Medical Case Reports 2022 16:331
  42. Alport syndrome is a rare inherited disorder affecting the glomerular basement membrane, manifested by hematuria and proteinuria that is commonly associated with ocular and hearing defects. There is limited in...

    Authors: Hasan Rawashdeh, Haifaa A. Alchalabi, Ashraf O. Oweis and Haneen Al Jalodi
    Citation: Journal of Medical Case Reports 2022 16:328

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