Results 31 to 40 of about 106,182 (261)
LifeIntroduction: Annular Lichen Planus (ALP) of the penis is a rare variant of genital lichen planus. Clinically, it is characterized by violaceous plaques with an annular configuration and central clearing.
Andrea D’Arino +6 more
doaj +1 more source
Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
THE MODERN VIEW OF THE ETIOLOGY AND TREATMENT OF PELVIC PAIN IN YOUNG WOMEN WITH GENITALS INFLAMMATION [PDF]
Annals of Mechnikov's Institute, 2014 Sensitive issue of modern gynecology can be considered widespread and substantial "rejuvenation" of inflammatory diseases of the pelvic organs in women of reproductive age.Ascending path of infection prevails in the pathogenesis of inflammatory ...
Chernyakova A.M. +2 more
doaj
Aetiology of sexually transmitted infections in Maputo, Mozambique
Journal of Infection in Developing Countries, 2010 Introduction: The study sought to ascertain the prevalence of the aetiological agents of genital discharge and genital ulcer diseases in Maputo, Mozambique.
Tomas Francisco Zimba +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +1 more source
Frontiers in MedicineObjectiveThis study aimed to explore the diagnosis and treatment of patients who have reached menarche but present with clinical manifestations of genital tract obstruction.MethodsA retrospective analysis was conducted on 72 patients with abnormal ...
Hao Si +6 more
doaj +1 more source
Animal Models and Experimental Medicine, EarlyView.D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala +6 more
wiley +1 more source
From Interferon Signature to the Clinical Landscape: Type I Interferonopathies
Arthritis &Rheumatology, EarlyView.Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz +13 more
wiley +1 more source