research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
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120-150 / 1000+ results research Concurrent Eosinophilic Pneumonitis and Diffuse Alveolar Hemorrhage Secondary to Naproxen
Naproxen can cause serious lung issues, but high-dose aspirin might be safer.
research Unusual non-infectious cause of meningitis
A woman had meningitis caused by mixed connective tissue disease, not an infection.
research Acute fish liver intoxication: report of three cases.
Eating grouper fish liver can cause vitamin A poisoning with severe symptoms.
research Pseudoglucagonoma syndrome secondary to pancreatitis: A case report
A young woman with skin issues and weight loss improved after treating her pancreatitis and using skin treatments.
research Confirmation of Metformin-Induced Acute Generalized Exanthematous Pustulosis Through a Positive Dechallenge-Rechallenge Test: A Case Report and Review of Cutaneous Manifestations Associated With Metformin
Metformin can cause rare severe skin reactions.
research S3301 Abnormal Liver Enzymes in Thymoma-Associated Multiorgan Autoimmunity
Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research A Young Child With Fever, Alopecia, and Skin Nodules
research EP03 An audit of glucocorticoid prescription in patients with giant cell arteritis
Many patients with Giant Cell Arteritis did not follow their steroid treatment plans properly.
research Graham-Little Syndrome — a rare entity of both scarring and non-scarring alopecia concomitance
Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.
research Alopecia areata after mogamulizumab treatment
Mogamulizumab can cause hair loss and skin rashes.
research An 85-Year-Old Man With Recurrent Fever and Multiple Splenic Infarcts
Travel history and tick-borne diseases should be considered in unexplained fevers for timely diagnosis and treatment.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research Skin, mucosa and nail findings in hospitalized pediatric patients with Coronavirus disease-2019 (COVID-19)
Many hospitalized children with COVID-19 had skin, mouth, or nail changes, with skin rashes being common.
research COVID-19 infection leading to acute pustular dermatoses
COVID-19 can directly trigger certain skin conditions like pustular dermatoses due to an inflammatory response.
research The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1
Ruxolitinib may effectively treat APS-1 by reducing harmful immune responses.
research Immune-Mediated Diseases of the Central Nervous System
The document explains the difficulty in diagnosing and treating brain diseases caused by the immune system and stresses the need for quick and accurate tests.
research Severe Pustular Drug Eruptions From Amivantamab: A Case Series
Amivantamab can cause severe skin eruptions and scarring, requiring drug discontinuation and early treatment.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research MANIFESTATIONS OF EXCESSIVE DAYTIME SLEEPINESS AND GHRELIN LEVEL IN CASE OF GASTROESOPHAGEAL REFLUX DISEASE IN PATIENTS WITH UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE
GERD symptoms are linked to acid exposure time and daytime sleepiness, influenced by ghrelin levels.
research Adverse Events Associated with Azathioprine Treatment in Korean Pediatric Inflammatory Bowel Disease Patients
Azathioprine caused side effects in over half of the Korean pediatric inflammatory bowel disease patients, requiring close monitoring.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research BroadAMP-GPT: AI-Driven generation of broad-spectrum antimicrobial peptides for combating multidrug-resistant ESKAPE pathogens
BroadAMP-GPT effectively creates antimicrobial peptides to fight drug-resistant bacteria.
research Polyglandular Autoimmune Syndrome Type 3D : A Case Report
Autoimmune Polyendocrine Syndromes involve specific combinations of endocrine and non-endocrine autoimmune diseases.
research Eosinophilic Fasciitis Associated With Tryptophan Ingestion
High doses of tryptophan may cause eosinophilic fasciitis.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.