research ACE1 rs1799752 polymorphism is not associated with long-COVID symptomatology in previously hospitalized COVID-19 survivors
The ACE1 gene variant doesn't affect long-COVID symptoms.
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research POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
research Pyoderma gangrenosum associated with rheumatoid arthritis mimicking vasculitis
Pyoderma gangrenosum can occur in rheumatoid arthritis patients and may be mistaken for vasculitis.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research PREVALÊNCIA DE DISTÚRBIOS RESPIRATÓRIOS EM PACIENTES COM FISSURA LABIOPALATINA: REVISÃO SISTEMÁTICA
People with cleft lip and palate often have respiratory problems.
research Refractory dissecting cellulitis of the scalp treated with risankizumab: 2 case reports
Risankizumab may help manage symptoms of dissecting cellulitis of the scalp.
research A Young Child With Fever, Alopecia, and Skin Nodules
research Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
Narrowband UVB therapy significantly improved a child's rare skin condition.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research Trichothiodystrophy
research Severe Acute SARS-CoV-2 Infection and Long COVID: What Do We Know So Far? New Challenges in Diagnosis and Management
Long COVID causes lasting symptoms in many body systems, needing more research for better treatments.
research Wavy changes in sinus hairs are correlated with feline leukaemia virus infection
Wavy sinus hairs in cats are linked to feline leukemia virus infection.
research Trichostasis spinulosa: An overlooked entity
Trichostasis spinulosa is a common but often unnoticed skin condition involving bundled vellus hairs, especially in people with darker skin or UV exposure.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research A VISUAL JOURNEY THROUGH SYSTEMIC LUPUS ERYTHEMATOSUS
The project highlights the importance of early diagnosis and patient advocacy in managing Systemic Lupus Erythematosus.
research The Rotterdam Study: objectives and design update
The Rotterdam Study investigates diseases in older adults and has produced many research findings.
research Sry Transcript Expression in Five Adult Male Rat Tissues and Correlation with Acsl3 Transcript Expression
Sry may regulate fatty acid metabolism and shows different expression levels in rat tissues.
research Clinical presentation and occurrence of the contagious skin diseases mange and orf in goat herds in Zambia
Mange and orf are present in some goat herds in Zambia, but more research is needed.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Severe steroid-dependent idiopathic angioedema with response to rituximab
A woman with severe angioedema improved significantly after treatment with rituximab.
research A Case of Systemic Lupus Erythematosus with Cutaneous Leukocytoclastic Vasculitis
A woman with lupus developed a rare skin condition, which improved with increased medication.
research P050 Rapidly worsening subcutaneous oedema in a young boy: a case of juvenile dermatomyositis
Juvenile dermatomyositis can worsen quickly and needs strong treatment.
research DIAGNÓSTICO E MANIFESTAÇÕES PRECOCES NA ASMA PEDIÁTRICA: O QUE SABEMOS?
Recurrent dry cough, wheezing, and respiratory discomfort are key symptoms for diagnosing pediatric asthma.
research Bilateral conjunctival lesions in Melkersson-Rosenthal syndrome
research Cyclophosphamide treatment with a comparison in both pediatric rheumatology and pediatric nephrology practices
Cyclophosphamide is preferred for severe cases in pediatric rheumatology and nephrology despite its side effects.
research Pityriasis rubra pilaris unveiling a case of a new onset hepatitis C infection
A woman with a skin disorder was found to have hepatitis C, which may be linked, and was safely treated with methotrexate.