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This study suggests that male sex and androgenic steroid use increase the risk of atrial arrhythmias in individuals with arrhythmogenic right ventricular cardiomyopathy, especially those with desmosomal gene mutations.

This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.

This case study indicates that older patients with NMOSD may show favorable clinical improvements with aggressive treatment, even when the intervention is initiated later in the disease course.

This report describes a case of Ambras syndrome with a chromosomal inversion on chromosome 8, similar to a previous case, but not associated with altered androgen levels.

This case report describes a 90-year-old man diagnosed with wild-type transthyretin cardiac amyloidosis, confirmed by pyrophosphate cardiac scintigraphy and exclusion of gene mutations.

In this study, a 37-year-old female with resistant hypertension and signs of Cushing's syndrome and primary aldosteronism was found to have normal cortisol levels but high levels of cortisol and aldosterone via adrenal venous sampling, leading to a diagnosis confirmed by right adrenalectomy.

This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.

This case report detailed a rare diagnosis of Rapunzel syndrome, where intussusception in a young girl was caused by trichobezoars linked to undiagnosed trichotillomania and trichophagia.

This study observed that DNA damage response (DDR) plays a key role in pressure overload-induced cardiomyocyte hypertrophy, with disruption of the ATM kinase pathway potentially modulating this hypertrophy in mice.

This study found a positive association between bilateral diagonal earlobe crease and bilateral preauricular crease with coronary artery disease, with both creases together predicting the disease with 90% accuracy.

In this study, GERD symptoms were found to be significantly related to acid exposure time and the intensity of excessive daytime sleepiness, which depends on circulating ghrelin levels.

A boy with toxic shock syndrome had severe heart rhythm problems but recovered with treatment.

This case study reported a unique instance of a benign adrenal adenoma co-secreting cortisol and DHEA-S, which initially mimicked PCOS symptoms. Surgical removal resulted in significant clinical improvement, confirming the diagnosis of cyclic adrenal Cushing's syndrome.

This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

This study reports that teflonpledget-reinforced suturing of coronary fistula, combined with coronary artery bypass grafting, improved symptoms in patients with LAD-to-MPA fistula and triple vessel disease, though larger studies are needed for confirmation.

This case report presents the first instance in Korea of unilateral gynecomastia and breast pain associated with doxazosin use.

Severe digestive issues in DRESS need early endoscopy for better treatment.

This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.

This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.

In this case study, a 24-year-old female with Parry-Romberg syndrome showed significant craniofacial asymmetry, delayed dental development, and other symptoms without neurological deficits; orthodontic treatment is used to improve occlusion and facial balance.

This article discusses a case study supporting the reclassification of KID syndrome as an ectodermal dysplasia, introducing a potential treatment combination that may alleviate symptoms in affected patients.

This study found that anabolic steroid use combined with plakoglobin deficiency caused pathological atrial electrical remodeling in young male mice, suggesting a higher risk of atrial myopathy for males with desmosomal gene variants.

This review discusses the challenges in diagnosing and managing gastroesophageal reflux in children, particularly in primary care settings, emphasizing the need for appropriate treatment and referral when necessary.

This study reports a case of constrictive pericarditis associated with COVID-19, highlighting the need for imaging, biomarkers, and histology for effective evaluation and treatment decisions.

In this study, researchers explored how hair follicle orientation is affected in the rosette fancy mouse and found that a mutation in the PCP gene Fzd6 caused reversed hair orientations in the posterior region, leading to the formation of unique whorls.

In this case study, drospirenone use masked the diagnosis of a rare form of congenital adrenal hyperplasia, suggesting a possible delay in detecting underlying endocrinopathies.

In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.

This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.