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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. Therapeutic options are needed for metastatic melanoma refractory to therapies directed against programmed cell death-1. High-dose interleukin-2 has the potential to overcome programmed cell death-1 resistance.

    Authors: Mina Nikanjam, Jaren Mullen, Carol Yacoub and Gregory A. Daniels
    Citation: Journal of Medical Case Reports 2022 16:337
  23. Previous research has suggested that some autoimmune diseases develop after the occurrence of coronavirus disease 2019. Hypereosinophilic syndrome is a rare disease presenting with idiopathic eosinophilia and ...

    Authors: Satoshi Suzuki, Keiko Suzuki, Takaya Ichikawa, Kae Takahashi, Masako Minami-Hori and Yoko Tanino
    Citation: Journal of Medical Case Reports 2022 16:324
  24. We present a case of a rare complication of negative-pressure wound therapy (NPWT) wherein there was fixation of a meshed split-thickness skin graft (STSG), suspected as a failure by hypergranulation. However,...

    Authors: Masato Shiba, Tomoaki Doi, Hideshi Okada, Ryo Kamidani, Genki Yoshimura, Keigo Kusuzawa, Fuminori Yamaji, Tomotaka Miura, Hideaki Oiwa, Yosuke Mizuno, Ryu Yasuda, Tetsuya Fukuta, Yuichiro Kitagawa, Takahito Miyake, Takahiro Yoshida, Shozo Yoshida…
    Citation: Journal of Medical Case Reports 2022 16:335
  25. Right-side fixation of the sigmoid colon is a rare anatomical variant associated with intestinal malrotation (Choi et al. in J Korean Surg Soc. 84(4):256–60, 2013). Differently from other forms of malrotation, th...

    Authors: G. Bertelli, S. Patauner, T. Gorgatti and A. Frena
    Citation: Journal of Medical Case Reports 2022 16:323
  26. Perforated peptic ulcer disease is a serious complication of peptic ulcer disease (PUD) that presents as acute abdomen. It is very uncommon during pregnancy, but its diagnosis in pregnancy is very challenging ...

    Authors: Tafese Dejene Jidha, Keno Mohammed Umer, Girma Beressa and Tadesse Tolossa
    Citation: Journal of Medical Case Reports 2022 16:322
  27. True isolated posterior myocardial infarction is an uncommon finding of acute coronary syndrome, with an incidence rate of 3–7%. The prevalence rates of isolated posterior myocardial infarction in men and wome...

    Authors: Mochamad Yusuf Alsagaff, Rizki Amalia, Budi Baktijasa Dharmadjati and Yolande Appelman
    Citation: Journal of Medical Case Reports 2022 16:321
  28. Remitting seronegative symmetrical synovitis with pitting edema is a rare rheumatic condition of the elderly population that is well described but whose mechanisms remain little studied. This syndrome is chara...

    Authors: Katarzyna Tarasiuk-Stanislawek, Alexandre Dumusc, Bernard Favrat and Ioannis Kokkinakis
    Citation: Journal of Medical Case Reports 2022 16:334
  29. Desmoid tumors are rare lesions. Although they demonstrate tumor characteristics, such as infiltrative growth and tendency towards local recurrence, they lack the ability to metastasize. To date, the cause of ...

    Authors: Obinna Chukwunwike Njoku and Chisara Cyprian Umezurike
    Citation: Journal of Medical Case Reports 2022 16:319
  30. Low blood pressure and associated postural symptoms are well-recognized manifestations of anaphylaxis. Nonetheless, anaphylaxis can present with high blood pressure and is rarely reported in the literature. We...

    Authors: Dumitha Govindapala, Uththara Sachinthanie Senarath, Dasun Wijewardena, Dilini Nakkawita and Chandimani Undugodage
    Citation: Journal of Medical Case Reports 2022 16:327
  31. Diabetes mellitus is the most common metabolic disease globally, while glucose-6-phosphate dehydrogenase deficiency, an X-linked inherited disorder, is the most common erythrocyte enzyme defect. The associatio...

    Authors: Sandhya Govindarajan, Imran Zamir, Sunil Bagewadi and Emily Moore
    Citation: Journal of Medical Case Reports 2022 16:320
  32. Medulloblastoma is a malignant brain tumor that is common in children but very uncommon in adults, especially those older than 40 years, accounting for less than 1% of all primary brain tumors in adults. Altho...

    Authors: Emmanuel Mduma, Adagi Awuor and Emmanuel L. Lugina
    Citation: Journal of Medical Case Reports 2022 16:330
  33. The flexor pollicis longus is the most vulnerable muscle in acute compartment syndrome of the forearm. Reconstruction of a dysfunctional flexor pollicis longus is occasionally necessary following compartment s...

    Authors: Muneyoshi Fujita, Hideaki Miyamoto and Taketo Kurozumi
    Citation: Journal of Medical Case Reports 2022 16:325
  34. Infantile Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder. It is an autosomal recessive di...

    Authors: Jamal Khaled Sahyouni, Luma Bassam Mahmoud Odeh, Fahad Mulla, Sana Junaid, Subhranshu Sekhar Kar and Naheel Mohammad Jumah Al Boot Almarri
    Citation: Journal of Medical Case Reports 2022 16:317
  35. Anaplastic lymphoma kinase tyrosine kinase inhibitors are standard therapeutic agents prescribed for anaplastic lymphoma kinase-positive non-small cell lung cancer, and treatment with these agents has been sho...

    Authors: Fumihiro Kashizaki, Arihito Tanaka and Yasutomo Sekido
    Citation: Journal of Medical Case Reports 2022 16:316
  36. Despite a considerable number of articles regarding neurological manifestations associated with severe acute respiratory syndrome coronavirus 2 infection, reports on transverse myelitis and encephalitis are sc...

    Authors: Riwanti Estiasari, Kartika Maharani, Fitri Octaviana, Anyelir Nielya Mutiara Putri, Syifa Laila Ramadhan, Anna Rozaliani and Darma Imran
    Citation: Journal of Medical Case Reports 2022 16:329
  37. We speculated that subclinical thrombosis may occur frequently through crosstalk between immune/inflammatory reactions and hemostasis after corona virus disease-2019 (COVID-19) vaccination. To test this hypoth...

    Authors: Sae-Yong Hong, Sang-Sin Jun, Sang-Wook Seo, Jeong-Rae Park and Joung-Il Im
    Citation: Journal of Medical Case Reports 2022 16:326
  38. Owing to the aging population, fragility fractures of the pelvis are occurring more frequently. Fixation of the fracture and stabilization of the pelvic ring usually provide good clinical results. A case of di...

    Authors: Shun Igarashi, Takashi Kobayashi, Hiroaki Kijima and Naohisa Miyakoshi
    Citation: Journal of Medical Case Reports 2022 16:315
  39. Urticarial vasculitis is a clinicopathologic entity defined by recurrent episodes of urticarial lesions that persist > 24 hours and demonstrate the histopathologic features of leukocytoclastic vasculitis. The ...

    Authors: Kyra Smets, Anne Van Baelen, Ben Sprangers and Petra De Haes
    Citation: Journal of Medical Case Reports 2022 16:314
  40. Dura-attached supratentorial extra-axial ependymoma is a very rare type of tumor, with only nine reported cases. Preoperative diagnosis of dura-attached supratentorial extra-axial ependymoma is difficult and o...

    Authors: Mayumi Akaki Nagayasu, Tsuyoshi Fukushima, Fumitaka Matsumoto, Hideo Takeshima, Yuichiro Sato and Hiroaki Kataoka
    Citation: Journal of Medical Case Reports 2022 16:312
  41. Medulloblastoma is well known as the most common malignant brain tumor identified in children, frequently found at an intra-axial location in the posterior cranial fossa. Extra-axial medulloblastoma is uncommo...

    Authors: Ho Xuan Tuan, Nguyen Duy Hung, Nguyen Dinh Minh, Nguyen Nhat Quang, Ngo Quang Duy and Nguyen Minh Duc
    Citation: Journal of Medical Case Reports 2022 16:310
  42. Transplant-eligible patients with polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome are treated with induction therapy and autologous stem cell transplantation. Conventional induct...

    Authors: Ryutaro Taenaka, Sakurako Shimokawa, Ayako Katayama, Toshihiko Nagao, Teppei Obara, Naoaki Nishimura, Atsushi Tsujimoto, Kentaro Kohno, Kenichi Aoki and Ryosuke Ogawa
    Citation: Journal of Medical Case Reports 2022 16:311
  43. Multiple cranial neuropathies carry a wide range of differential diagnoses, and when combined with cerebrospinal fluid monocytosis they often suggest an infective etiology. Reactivation of varicella zoster vir...

    Authors: Fangzhi Jia, Eugene R. Ting, Joo Hyen Ahn and Andrew Duggins
    Citation: Journal of Medical Case Reports 2022 16:313
  44. The diagnosis of tularemia is not often considered in Germany as the disease is still rare in this country. Nonetheless, Francisella tularensis, the causative agent of tularemia, can infect numerous animal specie...

    Authors: Hannah Sophia Borgschulte, Daniela Jacob, Jörg Zeeh, Holger C. Scholz and Klaus Heuner
    Citation: Journal of Medical Case Reports 2022 16:309
  45. Duodenal gastrointestinal stromal tumors are rare. If tumor growth is extraluminal and involves the head of the pancreas, the diagnosis of a duodenal gastrointestinal stromal tumor is difficult.

    Authors: Masashi Inoue, Ichiro Ohmori, Atsuhiro Watanabe, Ryujiro Kajikawa, Ryotaro Kajiwara, Hiroyuki Sawada, Kazuaki Miyamoto, Masahiro Ikeda, Kazuhiro Toyota, Seiji Sadamoto and Tadateru Takahashi
    Citation: Journal of Medical Case Reports 2022 16:308
  46. Since the beginning of the pandemic, no severe pediatric coronavirus disease 2019 cases have been described in Congo.

    Authors: Toni Kasole Lubala, Tony Kayembe-Kitenge, Paul Makinko, Luguette Kalenga, Hénoch Kachil, Axel Kayembe, Augustin Mutombo and Mick Shongo
    Citation: Journal of Medical Case Reports 2022 16:307
  47. We describe a patient presenting with central retinal artery occlusion (CRAO) of the right eye after retrobulbar anesthesia with adrenaline for macular pucker surgery.

    Authors: Filippo Confalonieri, Gunn Elin Ladstein, Ingar Stene-Johansen and Goran Petrovski
    Citation: Journal of Medical Case Reports 2022 16:303

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