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Coats’ disease was originally defined as a unilateral idiopathic exudative retinopathy in young males, characterized by abnormal retinal vascular telangiectasia with intraretinal and subretinal lipid exudation...
49XXXXY syndrome is the rarest X chromosome aneuploidy, with approximate incidence of 1:85,000–100,000 male births. Worldwide, around 100 cases have been reported. In this report, we describe one such case see...
Dysthyroid optic neuropathy is the most commonly suspected diagnosis of optic neuropathy in Graves’ patients; however, other causes need to be ruled out. We present a unique case of optic neuropathy secondary ...
Ganglioneuromas are a benign tumor originating from neural crest cells. As one of the neuroblastic tumors, ganglioneuromas are most common in children, with a mean age at presentation of 7 years. Ganglioneurom...
Aortic regurgitation is attributed to congenital and acquired abnormalities of the aortic valve or aortic valve supporting structures. The most common cause of aortic regurgitation is atherosclerotic degenerat...
Diagnosis of breast cancer during gestation is a rare occurrence. In addition, the diagnosis of breast cancer in a patient with Crohn’s disease is not common. We present a rare case of gestational breast cance...
Juvenile dermatomyositis is an inflammatory disease of muscles, skin, and blood vessels of unknown cause affecting all age and ethnic groups, with a reported incidence of 1.9–4.1 per million. It manifests with...
Drug reaction with eosinophilia and systemic symptoms syndrome is a rare but severe and potentially life-threatening hypersensitivity reaction, with significant morbidity and mortality. The clinical presentati...
Systemic lupus erythematosus is an inflammatory disease affecting several organs. Serositis is one of the systemic lupus erythematosus presentations, but peritonitis is a relatively rare presentation. Particul...
Patients with large cutaneous squamous cell carcinoma of the scalp are a treatment challenge. We report a case of dramatic radiotherapy response of a patient with a giant cutaneous squamous cell carcinoma of t...
Disruption of the Neurobeachin gene is a rare genetic mutation that has been implicated in the development of autism and enhanced long-term potentiation of the hippocampal CA1 region, causing a heightened conditi...
Facial onset sensory and motor neuropathy is a very rare sensorimotor disorder characterized by facial onset and gradual progression, with approximately 100 cases reported worldwide in 2020. We report on our e...
Bisphosphonates are frequently used for osteoporosis. Medication-related osteonecrosis of the jaw, a complication of bone-modifying agents, including bisphosphonates or angiogenic inhibitors, can be challengin...
Femoral neck stress fractures are rare and often recognized as overuse injuries that occur in young athletes or military personnel. A case following osteonecrosis of the femoral head is quite rare; even more u...
An adrenocortical tumor is a rare tumor in pediatrics, which can be functional or nonfunctional. Functional tumors present with virilization, feminization, or hypercortisolism. Feminizing adrenal tumors, thoug...
Recent advances in cancer immunotherapy have been remarkable, with many reports on the clinical effects of immune checkpoint inhibitors. Nivolumab has been covered by the national health insurance in Japan as ...
Acute kidney injury is a major challenge for today’s healthcare systems around the globe. Renal replacement therapy has been shown to be beneficial in acute kidney injury, but treatment highly depends on the c...
Progressive multifocal leukoencephalopathy is a rare central nervous system disease, resulting from reactivation of latent John Cunningham virus. Monoclonal antibodies have recently become a relevant risk fact...
Sickle cell disease and oculocutaneous albinism are rare autosomal recessive disorders both related to mutations on chromosome 11. The diagnosis of patients suffering from both pathologies is necessary to enab...
Treatment of hepatitis C infection has evolved dramatically since 2011. Previous conventional therapy with interferon and ribavirin used to have a low sustained virological response rate of less than 40%. In t...
Takotsubo syndrome is a sudden and an acute form of transient cardiac dysfunction, triggered by mental and physical stress. The treatment for Takotsubo syndrome is not well understood and is incompletely estab...
We report a case of platypnea–orthodeoxia syndrome observed in a complex clinical situation associating a bilateral pleural effusion, lobar pulmonary embolism, and a partial anomalous pulmonary venous return.
Peripheral ossifying fibroma is an inflammatory or reactive hyperplasia of the gingiva that is usually small. It is formed by hard tissue in fibrous tissue, and the name “neoplastic lesion” has tended to be us...
Human immunodeficiency virus-infected patients are 100 times more likely to develop aseptic osteonecrosis compared with the general population. While 90% of cases concern the femoral head, the involvement of h...
Mast cells are closely associated with epithelium, serving as sentinels responsible for the recognition of tissue injury and coordination of the initial inflammatory response. Upon detection of the injured cel...
Patients with celiac disease present with not only gastrointestinal symptoms but also extraintestinal manifestations such as anemia, osteopathy, dermatitis herpetiformis, and celiac neuropathy. Despite a fairl...
Nutcracker syndrome is a condition in which the left renal vein is pinched between the abdominal aorta and the superior mesenteric artery, resulting in an increase in renal vein pressure and certain symptoms. ...
Mesenchymal stem cells are currently a research focus because of the possibility of cartilage regeneration through several mechanisms, including mesenchymal stem cell sheets. However, there are no published re...
Subcapsular hepatic hematoma is a rare and life-threatening complication of pregnancy. It is most commonly associated with severe preeclampsia and hemolytic anemia, elevated liver enzymes, and low platelets sy...
Obesity is associated with an increased risk of morbidity and mortality, so weight reduction is important. Bariatric surgery is a well-tolerated approach for reducing body weight, with laparoscopic sleeve gast...
The ankle-brachial index measurement is used for screening and diagnosis of lower-extremity peripheral artery disease and cardiovascular risk assessment. However, the value is occasionally unreliable since the...
The objective of this study is to report typical clinical and laboratory characteristics of three cases of keratitis caused by Pythium insidiosum in China.
Pneumatosis cystoides intestinalis is a rare and usually benign condition in which multiple thin-walled cysts develop in the submucosa or subserosa of the gastrointestinal tract. While usually asymptomatic, se...
The coronavirus disease 2019 pandemic is predicted to have a net negative effect on tuberculosis control, with an estimated excess of 6.3 million tuberculosis cases and 1.4 million deaths by 2025. Programmatic...
The association of inflammatory myopathy and myasthenia gravis is a rarely described entity whose clinical presentation has always been intriguing because of the great clinical similarity between these two pat...
Patients with gamma-hydroxybutyric acid withdrawal symptoms are at high risk of developing organic delirium, which can be fatal. The recommended first-line treatment is benzodiazepines, but treatment-resistant...
Diagnosing urinary incontinence from organic causes such as ectopic ureter is particularly important because of the potential for cure by surgical correction. The prevalence of ectopic ureter is uncertain beca...
Idiopathic pulmonary fibrosis is a disease with a poor prognosis and has been associated with increased lung cancer incidence.
A decrease in bone mineral density is common in patients with Williams syndrome. However, appropriate management for osteoporosis in Williams syndrome patients has not been established. We report the case of a...
The chorioretinal inflammatory lesions occurring in punctate inner choroiditis evolve into punched-out atrophic scars. Typically, the progression is gradual. We report a case of highly myopic punctate inner ch...
Autoimmune hypophysitis is a rare condition that often results in enlargement of the pituitary gland and hypopituitarism due to inflammatory infiltration. Management of autoimmune hypophysitis can include long...
The Cushing reflex does not appear to have been described in preterm neonates. This case report shows the presence of an active Cushing reflex in a 32-week preterm neonate with hyaline membrane disease.
While it is the most common thoracic venous anomaly, a persistent left vena cava superior may present in atypical variations, which are important to consider during clinical management.
In this report, we describe a very challenging case of a patient with secondary Evans syndrome caused by severe coronavirus disease 2019 infection in a pregnant full-term woman.
Adult patients with coronavirus disease present primarily with respiratory symptoms, but children and some adults may display a more systemic inflammatory syndrome with rash, fever, mucosal changes, and elevat...
Parsonage–Turner syndrome is an acute peripheral neuropathy that affects the upper brachial plexus region. Previously published reports demonstrate that the condition can be triggered by surgery, infection, au...
Severe acute respiratory syndrome coronavirus 2 is the third member of the coronavirus family to cause global concern in the twenty-first century. Pregnant women are particularly at higher risk of developing s...
Atypical hemolytic uremic syndrome is an exceedingly rare thrombotic microangiopathy caused by accelerated activation of the alternative complement pathway.
Leptospirosis is a common zoonotic infection caused by the spirochete Leptospira. The disease is more prevalent in the tropics, causing subclinical to severe illness leading to high morbidity and mortality.
Transcranial direct current stimulation, a therapeutic modality to modulate the excitability of injured and uninjured brain hemispheres in stroke patients, is expected to be effective in treating upper limb pa...
2022 Citation Impact
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Journal of Medical Case Reports