research Case 4-2012
Early diagnosis and treatment of TPP can prevent complications.
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270-300 / 1000+ results research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Successful treatment of ulcerated infantile hemangioma associated with PELVIS syndrome using oral propanolol
Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research 42357 Bullous pemphigoid presenting as erythema multiforme-like targetoid lesions
Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
research A Case-controlled Comparative Hospital-based Study on the Clinical, Biochemical, Hormonal, and Gynecological Parameters in Polycystic Ovary Syndrome
Women with PCOS often have different clinical signs, hormone levels, and gynecological issues compared to those without the condition.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research Central precocious puberty secondary to peripheral precocious puberty due to a pineal germ cell tumor: a case and review of literature
A pineal tumor caused a boy's early puberty, which changed from peripheral to central after treatment.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Hair‐thread tourniquet syndrome
A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
research Modern trends in the variability of the mechanisms of formation and principles of diagnosis – Ganser syndrome
Ganser syndrome may result from both organic and psychogenic factors.
research Pathological Studies of Cross‐Related Congenital Hypotrichosis in Cattle
Crossbreeding certain European cattle breeds may cause hair and physical issues in cattle.
research Non-thermal Acoustic Enhancement of Chemotherapeutic Effects of Cisplatin on Xenografted Cervical Cancer in Mice
Using ultrasound may make cisplatin more effective against cervical cancer in mice.
research Patent Reports
New patents include innovations in skin and hair care, disease treatment, plant stress tolerance, and protein purification.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research 43367 Infantile Pacinian Neurofibroma: A Rare Neurogenic Tumor
A rare benign scalp tumor in an infant requires surgical removal.
research FAVOURE RACOUCHOT SYNDROME WITH SCALP INVOLVEMENT: A CASE REPORT
A rare skin condition usually found near the eyes was found on a farmer's scalp.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research Severe metabolic disorders coexisting with Werner syndrome: a case report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
research PRAME Expression in Mammary and Extramammary Paget Disease
PRAME is often present in Paget disease and could help in diagnosis, but more research is needed.
research Evaluation of Sleep Quality, Restless Legs Syndrome, Anxiety and Depression in Polycystic Ovary Syndrome
People with polycystic ovary syndrome are more likely to have poor sleep, restless legs syndrome, anxiety, and depression.
research Acquired constriction ring syndrome as a cause of inconsolable cry in a child: a case report
A hair tightly wrapped around a toddler's toe caused severe crying and was treated by surgery.
research 5155 Benign Paroxysmal Positional Vertigo as a Potential Manifestation of Hypothyroidism, a Case Report
Hypothyroidism may cause vertigo symptoms like BPPV.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.