Results 31 to 40 of about 1,228,636 (220)

Micro-dissection testicular sperm extraction in Klinefelter's syndrome patients, King Faisal Specialist Hospital and Research Center, Riyadh experience

open access: yesUrology Annals, 2022
Background: In Klinefelter's syndrome patients with azoospermia, microscopic testicular sperm extraction (m-TESE) can be proposed as a therapeutic option.
Abdulmalik H Almardawi   +6 more
doaj   +1 more source

WFS1 Deficiency Impairs PIAS4‐Associated SUMOylation and Increases Ubiquitin‐Mediated Spermatogenesis‐Related Protein Degradation Leading to Testicular Male Infertility

open access: yesAdvanced Science, EarlyView.
The findings establish a critical role for WFS1 in human male fertility. Mechanistically, WFS1 interacts with PIAS4 to promote the SUMOylation of key spermatogenesis‐associated proteins, which in turn competitively inhibits their K48‐linked ubiquitin‐mediated degradation during spermatogenesis.
Yunchuan Tian   +14 more
wiley   +1 more source

Prevention of Early Onset of Breast Cancer With Ashwagandha

open access: yesMolecular Carcinogenesis, EarlyView.
ABSTRACT Prevention of breast cancer is feasible because many risk factors for this malignancy are known (e.g., family history, reproductive factors, etc.). Medicinal plants and/or their bioactive phytochemicals are attractive for the prevention of early onset of breast cancer due to their generally favorable safety profile.
Eun‐Ryeong Hahm   +2 more
wiley   +1 more source

Fire-settng behavior associated with Klinefelter syndrome

open access: yes, 2002
This is a report on a male patient with a previous history of psychotic disorder who was arrested for arson. During the following hospitalization in a psychiatric unit, a genetic syndrome, namely Klinefelter syndrome (47,XXY), was diagnosed.
Thorens, Gabriel   +12 more
core   +1 more source

Incretin‐Based Therapies: A Testable Hypothesis Linking Incretin Signaling, Mitochondrial Redox, and OXPHOS Efficiency

open access: yesObesity, EarlyView.
ABSTRACT Objective Incretin‐based obesity therapies (IBTs), especially GLP‐1 receptor agonists (GLP‐1 RAs), effectively treat obesity and improve comorbidities. However, their impact on energy metabolism is unclear. A recent case of acute generalized muscle weakness in a patient with mitochondrial myopathy after tirzepatide exposure raises concerns ...
Bryn Falahee   +2 more
wiley   +1 more source

Contact Activation Is Alleviated by Testosterone Replacement Therapy in Klinefelter Syndrome: Evidence of Hormonal and Metabolic Modulation

open access: yesAndrology, EarlyView.
ABSTRACT Background Klinefelter syndrome is associated with a markedly increased risk of venous thrombosis. While hypogonadism and metabolic dysfunction are known contributors, the role of the contact activation system in Klinefelter syndrome remains unexplored.
Simon Chang   +4 more
wiley   +1 more source

Mesenchymal Stem Cells From a Klinefelter Syndrome Patient: Functional Characterization and Therapeutic Implications

open access: yesAndrology, EarlyView.
ABSTRACT Background Cell therapy, particularly those utilizing mesenchymal stem/stromal cells (MSCs), is gaining traction as a therapeutic option for regenerative treatment in patients with limited therapeutic options. Although the safety of MSC‐based interventions is well established, uncertainties remain regarding how genetic abnormalities and ...
Marzena Zychowicz   +12 more
wiley   +1 more source

Assessing a Model for a Complex Systemic Disorder—The Value of Male Mice With a Supernumerary X Chromosome for Klinefelter Syndrome Research

open access: yesAndrology, EarlyView.
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley   +1 more source

A synchronous occurrence of bifocal intracranial germinoma and bilateral testicular epidermoid cyst in an adolescent patient with Klinefelter`s syndrome

open access: yesThe Turkish Journal of Pediatrics, 2019
Klinefelter syndrome (KS) is characterized by an additional X chromosome in males leading to a karyotype of 47,XXY. It is associated with an increased risk of certain malignancies, including leukemia, breast cancer and extragonadal germ cell tumor such ...
Derya Özyörük   +5 more
doaj   +1 more source

48 / XXYY MALE CASE WITH PRIMARY INFERTILITY

open access: yesInternational Journal of Health Services Research and Policy, 2020
Klinefelter syndrome is a sex chromosomal aneuploidies with at least one extra X chromosome than normal male karyotype. The classic form of the 47 / XXY karyotype, the incidence of this syndrome is one in 500-1000 live male births.
Mahmut BALKAN
doaj   +1 more source

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