research 1340 低熱セメントを用いた高強度コンクリート実大施工実験 : その4 硬化コンクリートの性状
Evaluate prolactin levels with androgen and thyroid tests to rule out endocrine issues in patients with SAHA syndrome symptoms.
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research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Lucio Phenomenon mimicking with Vasculo necrotic Erithema Nodosum Leprosum: A Case Report
A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.
research Metabolic syndrome in Greek women with polycystic ovary syndrome: prevalence, characteristics and associations with body mass index. A prospective controlled study
Greek women with PCOS have a higher risk of metabolic syndrome and are more likely to be overweight compared to healthy controls.
research Metabolic Syndrome – Myth or Reality in the Endocrinology Clinic
Metabolic syndrome's individual issues are real and need treatment to reduce diabetes and heart disease risks.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Gastroparesis - a novel cause of persistent thyroid stimulating hormone elevation in hypothyroidism.
Gastroparesis can cause persistent TSH elevation in hypothyroidism despite treatment.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research The Hair-An Syndrome: A Report of a Misdiagnosed Case with Unfortunate Outcome
A misdiagnosed case of HAIR-AN syndrome led to unnecessary surgeries and highlighted the importance of correct diagnosis and treatment.
research Μελέτη του επιπολασμού της υπερανδρογοναιμίας σε Ελληνίδες γυναίκες με σύνδρομο πολυκυστικών ωοθηκών με βάση τα δύο διαφορετικά κριτήρια διάγνωσης (NIH 1990, Rotterdam 2004)
Accurate diagnosis of PCOS requires comprehensive androgen measurement.
research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research 17-Hydroxyprogesterone Responses to Gonadotropin-Releasing Hormone Disclose Distinct Phenotypes of Functional Ovarian Hyperandrogenism and Polycystic Ovary Syndrome
The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
research Clinical case of delayed diagnosis of celiac enteropathy
The patient was diagnosed with celiac disease after a long delay, showing the need for better awareness and earlier detection.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research Eosinophilic Fasciitis Associated With Tryptophan Ingestion
High doses of tryptophan may cause eosinophilic fasciitis.
research ODP292 A Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection.
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research Wanita 28 Tahun dengan Hyperprolactinemia dan Hubungan terhadap Policystic Ovary Syndrome
Treating hyperprolactinemia can help manage PCOS symptoms.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Construction of the coexpression network involved in the pathogenesis of thyroid eye disease via bioinformatics analysis
Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research SAT-148 Late Diagnosis of Klinefelter Syndrome: Overcoming Phenotypic Variability and Diagnostic Oversights
Early physical exams are crucial for timely Klinefelter syndrome diagnosis.
research Matrix-Degrading Type II Transmembrane Serine Protease Matriptase: Its Role in Cancer Development and Malignancy
Matriptase imbalance contributes to cancer development and spread.
research Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome
A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.