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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research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Spiking dependence of SARS‐CoV‐2 pathogenicity on TMPRSS2
TMPRSS2 affects COVID-19 severity and treatment options.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
research Repetitive respiratory tract infection and trace elements zinc iron and cuprum in hair: A correlative study
Children with frequent respiratory infections may have low levels of zinc, iron, and copper.
research Primary Vitreoretinal Lymphoma Presenting Solely with Asymptomatic Peripheral Drusenoid Lesions
Older patients with new retinal lesions may have cancer, and local radiation might not stop it from spreading.
research Neurosarcoidosis Occurring 6 Years after Onset of Vogt-Koyanagi-Harada Disease
VKHD and sarcoidosis may share a common cause.
research Cyclophosphamide and rituximab in frequently relapsing/steroid-dependent nephrotic syndrome
Rituximab leads to longer remission and fewer side effects than cyclophosphamide.
research A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11
research Detection of lentiviral constructs for release testing of CAR- T cells using digital droplet PCR
The new ddPCR method reliably detects unwanted viruses in CAR-T cell products, ensuring their safety for patients.
research P44 An acutely unwell and rare presentation of systemic lupus erythematosus; a case report
Early recognition and treatment of SLE can improve outcomes in patients with complex symptoms.
research The Case Files
A 65-year-old man with sudden abdominal pain and seizures was diagnosed with a rare, non-traumatic splenic rupture and treated without surgery.
research The The Relationships Among Routes of Transmissions, Environmental Factors Tolerance and Mutation Rates of Some RNA Viruses
Virus infection risk is linked to heat tolerance and size, but decreases with high humidity and mutation rates.
research Cutaneous microbial biofilm formation as an underlying cause of red scrotum syndrome
Microbial biofilms may cause red scrotum syndrome.
research TMPRSS2, required for SARS-CoV-2 entry, is downregulated in lung cells by enzalutamide, a prostate cancer therapeutic
A prostate cancer drug can lower the levels of a protein that the coronavirus uses to enter lung cells.
research Ischemic Vaso-occlusive Retinopathy as Initial Presentation in Pediatric Systemic Lupus Erythematosus: A Case Report
Early treatment of pediatric lupus-related eye issues is crucial to prevent vision loss.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Stereotactic Body Radiation Therapy As a Derivative of Stereotactic Radiosurgery: Clinically Independent But With Enduring Common Themes
Stereotactic body radiation therapy and radiosurgery are advanced, precise treatments that target tumors while protecting healthy tissue.
research Acute parenchymal lung involvement in a 68-year-old woman with systemic lupus erythematosus, anemia, and thrombocytopenia
A 68-year-old woman with lupus and blood disorders improved after increased steroids and immunoglobulin treatment.
research FAVOURE RACOUCHOT SYNDROME WITH SCALP INVOLVEMENT: A CASE REPORT
A rare skin condition usually found near the eyes was found on a farmer's scalp.
research Mucocutaneous manifestations in children with human immunodeficiency virus infection
Children with HIV often have skin problems that can indicate the severity of their immune system damage.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
research Six-year Retrospective Review of Drug Reaction with Eosinophilia and Systemic Symptoms
Early detection and stopping the drug are key to managing DRESS, and careful monitoring is important due to possible severe reactions.
research MANIFESTAÇÕES CUTÂNEAS CORROBORADAS À INFECÇÃO POR SARS-COV-2
Skin symptoms like rashes and hives can help identify COVID-19 early.
research Post SARS-CoV-2 vaccination effluvium
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research P53 Acute west nile virus infection in an SLE patient – diagnostic and therapeutic challenges
SLE patients need careful diagnosis to distinguish infections from disease flares for proper treatment.
research Comparison of viral RNA–host protein interactomes across pathogenic RNA viruses informs rapid antiviral drug discovery for SARS-CoV-2
Cepharanthine and Trifluoperazine are effective against SARS-CoV-2.