research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
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390-420 / 1000+ results research THE APPLICATION OF PARTITION CHROMATOGRAPHY TO THE SEPARATION OF RARE EARTH ELEMENTS
PCOS causes hormonal imbalances and health issues like infertility and heart disease.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research Erythroderma: clinical and etiological study of 88 cases seen in a tertiary hospital over 25 years
Pre-existing skin conditions and drug reactions are the main causes of exfoliative erythroderma.
research Treatment of Erythromelanosis Follicularis Faciei et Colli Using a Dual-Wavelength Laser System: A Split-Face Treatment
The dual-wavelength laser system effectively reduces EFFC symptoms with minimal side effects.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research A Case of Acrodermatitis Enteropathica
Acrodermatitis Enteropathica is a rare skin condition treated effectively with zinc supplements, and early diagnosis is key.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research A patient with eosinophilia-myalgia syndrome.
The document's conclusion cannot be determined from the provided text.
research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
research Miasmatic evolution in polycystic ovarian syndrome with reportorial analysis
Certain factors can trigger hormonal imbalances and cyst formation, leading to Polycystic Ovarian Syndrome (PCOS).
research Proposing Vascepa (Icosapent Ethyl) as Supplemental Treatment Targeting the Underlying Causes of Persistent, Post-Viral Symptoms Associated with COVID-19: A Case Series
Icosapent ethyl may help treat long-lasting symptoms after COVID-19.
research Clinical effectiveness of ethinylestradiol-cyproterone acetate and raloxifene combination therapy in polycystic ovary syndrome-associated infertility
The combination therapy effectively treats infertility in PCOS without major side effects.
research Correspondence
A man's skin cancer improved and some of his hair grew back after treatment with a special light therapy and a medication.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research Dermoscopy and Ultraviolet-Enhanced Fluorescence Dermoscopy (UEFD) Increase the Accuracy of Diagnosis and Are Useful in Assessing the Effectiveness of Kerion celsi Treatment
Advanced dermoscopy techniques improve diagnosis and treatment monitoring for Kerion celsi but don't guarantee full hair regrowth.
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 Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research Polycystic Ovary Syndrome and Eating Disorders—A Literature Review
PCOS and eating disorders are linked by hormonal imbalances, needing personalized treatment.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Stability Studies on L-Ascorbic Acid dl-α-Tocopherol Phosphoric Acid Diester Potassium Salt (EPC-K)
EPC-K is stable except at very acidic pH or when exposed to sunlight, and it can decompose in low ethanol concentrations.
research Cronkhite–Canada Syndrome Diagnosis in the Absence of Gastrointestinal Polyps
Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
research Cytotoxic Effect of YH239-EE and Its Enantiomer on MCF7 Cell Line
The (+) enantiomer of YH239-EE effectively kills breast cancer cells.
research 115 AE法による実機水車発電機軸受の診断(セッション4 評価・診断II)
KSR1 is crucial for certain skin tumor formation and could be a cancer therapy target.
research Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
research Alopecia areata in a Patient with Candidiasis-Endocrinopathy Syndrome: Unsuccessful Treatment Trial with Diphenylcyclopropenone
The treatment for alopecia areata with diphenylcyclopropenone was unsuccessful.
research ERG induces androgen receptor-mediated regulation of SOX9 in prostate cancer
ERG increases SOX9, promoting prostate cancer growth and invasion.
research Chrousos syndrome: from molecular pathogenesis to therapeutic management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.