Page 4 of 128
5p deletion syndrome is known as cri-du-chat syndrome, but there are no reports on congenital diaphragmatic hernia complications associated with it.
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 ...
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...
Bruck syndrome is an exceedingly rare form of osteogenesis imperfecta, inherited autosomal recessively and presenting with the concurrence of bone fragility and congenital contractures of large joints. The dis...
Coronavirus disease 2019, caused by severe acute respiratory coronavirus 2, has been responsible, since December 2019, for a severe pandemic resulting in millions of deaths worldwide, and the number is still i...
Pulmonary arterial hypertension is a progressive, debilitating condition characterized by increased resistance in the pulmonary arterial circulation. Current treatments for pulmonary arterial hypertension incl...
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...
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. ...
The original article was published in Journal of Medical Case Reports 2021 15:560
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...
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...
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...
We report an otherwise healthy adult with macular telangiectasia with aneurysms, ischemia, and obliterated capillaries in both eyes.
Glucocorticoids have many side effects, and high-dose intravenous application may cause rare adverse reactions such as hyperamylasemia. The aim of this study is to explore the clinical characteristics, treatme...
The electrocardiogram has a critical role in the diagnosis and risk assessment of patients presenting with chest pain in the emergency ward.
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...
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...
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...
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...
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...
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...
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...
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...
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. ...
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....
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 ...
Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointest...
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...
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, ...
We present this report of a new ophthalmic finding in a patient with ochronosis.
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...
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...
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...
Fusarium species are saprophytic fungi with a worldwide distribution. These fungi cause various infections among immunocompromised patients; however, they can also involve immunocompetent individuals.
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-...
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...
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...
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...
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...
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...
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...
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...
We present a case of fungal keratitis caused by Scedosporium apiospermum, which is a rare agent.
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...
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...
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...
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...
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...
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 ...
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...
Citation Impact
0.757 - Source Normalized Impact per Paper (SNIP)
0.287 - SCImago Journal Rank (SJR)
1.300 - CiteScore
Speed
103 days to first decision for all manuscripts (Median)
103 days to first decision for reviewed manuscripts only (Median)
Usage
4,322,849 Downloads (2021)
3,006 Altmetric mentions (2021)
Journal of Medical Case Reports