research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
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330-360 / 1000+ resultsresearch Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research A 39‐year‐old woman with Lupus, Myositis, and a Recalcitrant Vasculopathy
Antituberculous drugs improved symptoms in a woman with lupus and myositis.
research Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review
Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
research Ayurvedic management of systemic sclerosis - A case report
Ayurvedic treatments can improve symptoms and quality of life for systemic sclerosis patients.
research The effect of topical and oral Boswellia sacra in a patient with Pilonidal sinus disease
Boswellia sacra helped improve pilonidal sinus symptoms in one case.
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research A Case of Sheehan Syndrome Presenting with Pancytopenia and Dilated Cardiomyopathy: A Rare Combination
A woman with Sheehan syndrome improved with hormone treatment.
research Heart Failure Due to Cardiac Transthyretin Amyloidosis
A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
research The Case Files
Thyroid storm is hard to diagnose due to vague symptoms but needs urgent attention.
research Visual Diagnosis: An Adolescent Female Who Has Increasing Hair Growth
The girl's increased hair growth and other symptoms were due to a hormone-secreting ovarian tumor, which was successfully treated with surgery.
research The Silent Syndrome of Long COVID and Gaps in Scientific Knowledge: A Narrative Review
Long COVID is a complex condition with many symptoms and unknowns, needing more research.
research Introductory Chapter: Learning and Recognizing the Post-COVID Syndromes
Long COVID affects many survivors with ongoing symptoms, needing more research and care.
research The Multisystem Impact of Long COVID: A Comprehensive Review
Long COVID causes a wide range of long-lasting symptoms that change over time and are hard to diagnose and treat.
research Prevalence and Pattern of Skin Manifestations in COVID-19 Patients; A Cross-Sectional Observational Study in Saudi Arabia
Some COVID-19 patients in Saudi Arabia had skin symptoms, with rashes being the most common.
research Monitoring of clinical signs in goats with transmissible spongiform encephalopathies
Goats with BSE or scrapie show varying symptoms, and using only clinical signs may not detect all scrapie cases.
research Results of Open-Label non-Randomized Comparative Clinical Trial: “BromhexIne and Spironolactone for CoronаvirUs Infection requiring hospiTalization (BISCUIT)
Bromhexine and spironolactone together reduced COVID-19 symptoms and hospitalization time without side effects.
research Stem Cell Therapies for Epidermolysis Bullosa Treatment
Stem cell therapies may help improve symptoms and quality of life for people with epidermolysis bullosa.
research Monovalent antibody-conjugated lipid-polymer nanohybrids for active targeting to desmoglein 3 of keratinocytes to attenuate psoriasiform inflammation
The targeted nanohybrids effectively reduced psoriasis symptoms and improved skin health.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Alopecia Areata after COVID-19 Vaccines
Some people with a history of autoimmune hair loss experienced worsening symptoms after COVID-19 vaccination.
research Clinical Evaluation of COVID-19 Survivors at a Public Multidisciplinary Health Clinic
Most COVID-19 survivors developed post-acute symptoms, especially if they had been in the ICU, but the severity of initial infection didn't predict these symptoms.
research Adrenal Mass in a 70-Year-Old Woman
A 70-year-old woman with a malignant adrenal tumor improved after surgery and radiotherapy.
research Dercum Disease: Exploratory Therapeutic Approaches in the Absence of Standardized Medical Treatment—A Single Center Case Series
Individualized treatments may help manage Dercum's disease symptoms.
research A Case Report of Autoimmune Hemolytic Anemia with Deep Vein Thrombosis in a 16-year-old Girl - Is It Systemic Lupus Erythematosus?
A 16-year-old girl with autoimmune hemolytic anemia and deep vein thrombosis improved with treatment, possibly indicating systemic lupus erythematosus.
research The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients
Anti-Ku antibodies are linked to unique symptoms and may involve autophagy issues.
research Efficacy of Tofacitinib in the Treatment of Universal Alopecia Areata and Primary Sjögren Syndrome
Tofacitinib may effectively treat hair loss and improve symptoms in autoimmune conditions like alopecia areata and Sjögren's syndrome, but long-term treatment might be necessary.
research Atypical Presentation of Systemic Lupus Erythematous with Vasculitic Polyneuropathy
A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
research New onset of alopecia areata in a patient with SARS‐CoV‐2 infection: Possible pathogenetic correlations?
COVID-19 infection may trigger alopecia areata in some patients.