research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
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300-330 / 1000+ results research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Methicillin Resistant Staphylococcus aureus (MRSA) Infection in Canines and its Public Health Importance
MRSA in dogs can spread to humans, so infection control is crucial.
research Functional analysis of vitamin D receptor (VDR) using adenovirus vector
The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Two years of SARS-CoV-2 infection (2019–2021): structural biology, vaccination, and current global situation
Continued vaccine and drug development is crucial due to new virus variants and regional infection spikes.
research 532P Analyses of patient-reported outcomes (PROs) with mirvetuximab soravtansine (MIRV) versus standard chemotherapy in the randomized phase III FORWARD I study in ovarian cancer (GOG 3011)
Mirvetuximab soravtansine improves quality of life and reduces symptoms more than standard chemotherapy in ovarian cancer patients.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene
A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
Intralesional cidofovir may be a viable alternative treatment for SCC.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Recurrent Central Serous Retinopathy with Permanent Visual Loss in a U.S. Naval Fighter Pilot
A U.S. Naval fighter pilot suffered permanent vision loss in one eye due to recurrent central serous retinopathy.
research Symmetrical drug‐related intertriginous and flexural exanthema like eruption associated with COVID‐19 vaccination
A skin rash after the AstraZeneca COVID-19 vaccine was treated successfully with medication.
research AB1511 SLE ONSET POST COVID-19 VACCINATION: COINCIDENTAL OR ASSOCIATION?
It's unclear if COVID-19 vaccination causes SLE; more research is needed.
research Radiation cystitis in acute admissions for haematuria
Radiation cystitis patients need better monitoring and early treatment due to higher readmission rates.
research MmuPV1-Induced Cutaneous Squamous Cell Carcinoma Arises Preferentially from Lgr5+ Epithelial Progenitor Cells
Skin cancer often starts from Lgr5+ progenitor cells.
research Recognition and management of Staphylococcus aureus toxin‐mediated disease
Early detection and intensive treatment of diseases caused by Staphylococcus aureus toxins are crucial for reducing severe health effects.
research Cryptococcoid Sweet syndrome: A case report and literature review
Cryptococcoid Sweet syndrome can be linked to hydralazine use and multiple autoantibodies, requiring high clinical suspicion and more research.
research Effects of Folic Acid or Zinc Malnutrition on Rotaviral Infection in a Murine Model
Folic acid deficiency worsens rotaviral infection, while zinc deficiency affects physical health but not the infection.
research Treatment of Psoriasis vulgaris with a New Retinoic Acid Derivative Ro 10-9359
The treatment cleared psoriasis in some patients but caused side effects in most.
research Role of Extracellular Vesicles as Mediators of Cell Communication and Novel Biomarkers in Sepsis
Small extracellular vesicles can help diagnose and manage sepsis.
research Metabolic, Behavioral, and Reproductive Effects of Vertical Sleeve Gastrectomy in an Obese Rat Model of Polycystic Ovary Syndrome
Vertical sleeve gastrectomy improved metabolism, behavior, and reproduction in obese rats with PCOS.
research Therapeutic Efficacy of Spironolactone for Central Serous Chorioretinopathy
Spironolactone helps reduce fluid in the eye in Central Serous Chorioretinopathy, but doesn't improve vision and recurrence is common.
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research PREVENTION OF GRAFT-VERSUS-HOST DISEASE BY INTRATHYMIC INJECTION OF RECIPIENT-TYPE SPLENOCYTES INTO DONOR1
Injecting recipient splenocytes into donors' thymus can prevent graft-versus-host disease.
research Diagnostic Role of Anterior Segment Optical Coherence Tomography in an Atypical Presentation of Varicella Zoster Virus Interstitial Keratitis: A Case Report
AS-OCT is crucial for diagnosing VZV interstitial keratitis and avoiding unnecessary treatments.
research DERMATITIS ASOCIADA A Malassezia spp EN UN CONEJO (Oryctolagus cuniculus) CRIADO COMO MASCOTA
A pet rabbit had a skin infection that was cured with ketoconazole.
research A case of recalcitrant pediatric Vogt-Koyanagi-Harada disease successfully controlled with adalimumab
Adalimumab helped control a child's severe eye disease when other treatments failed.
research 02 Management of difficult infections in SLE
Managing severe infections in SLE patients requires tailored treatment strategies.
research Clinical analysis of rash in systemic lupus erythematosus
Rash in SLE patients indicates more severe disease.