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Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review.
J Appl Genet
January 2025
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Avenue, Daneshjoo Blvd, Evin, Tehran, 1985713834, Iran.
Perrault syndrome (PS) is an extremely rare autosomal recessive condition characterized primarily by bilateral sensorineural hearing loss in both genders and primary or secondary ovarian failure in females. Neurological features such as cerebral ataxia, peripheral neuropathy, epilepsy, and intellectual disability are frequent manifestations of PS. To date, six genes have been reported to cause PS, and nearly 100 families have been identified worldwide with this syndrome.
View Article and Find Full Text PDFA nuanced scrutiny of the segmental renal artery spectral Doppler in "Pickering" the right diagnosis.
Future Cardiol
January 2025
Department of Cardiovascular Disease, Baylor Scott and White Medical Center - Temple, TX, USA.
Approximately 5-10% of patients with hypertension have secondary hypertension. We describe a case of secondary hypertension from bilateral renal artery stenosis (RAS): "Pickering syndrome." This is a case of hypertension secondary to bilateral RAS which provides an opportunity to review secondary hypertension with a specific focus on RAS, in terms of when to consider work up, causes of secondary hypertension, diagnostic testing, and treatment.
View Article and Find Full Text PDFPrimary Ovarian Angiosarcoma: Diagnostic Challenges and Conundrums.
Discoveries (Craiova)
December 2024
Department of Oncopathology Homi Bhabha Cancer Hospital (HBCH) and Mahamana Pandit Madan Mohan Malviya Cancer Centre (MPMMCC), Tata Memorial Centre, Homi Bhabha National Institute (HBNI), Varanasi, India.
Angiosarcoma is an extremely uncommon mesenchymal neoplasm overall and moreso in female genital organs such as the ovary. Diagnosing primary ovarian angiosarcoma remains challenging on clinical grounds due to the absence of specific clinical symptoms as well as on histopathological analysis especially in poorly differentiated subtypes due to non-specific and overlapping morphologic features. Misdiagnosis in such scenarios can be devastating as this tumor is clinically very aggressive.
View Article and Find Full Text PDFA Complex, Convexity, Anterior Superior Sagittal Sinus Dural Arteriovenous Fistula Secondary to Venous Sinus Thrombosis.
Cureus
December 2024
Neurosurgery, Queens Hospital Center, Romford, GBR.
We report the management of a convexity dural arteriovenous fistula (dAVF) in an uncommon anterior superior sagittal sinus (SSS) location. This was a high-risk Cognard IIa+b dAVF, which is notoriously complex to treat. Endoscopic management alone for complex SSS dAVFs is challenging due to the often bilateral arterial supply to the fistula, as demonstrated in this case.
View Article and Find Full Text PDFTransversus abdominis plane block combined with intrathecal fentanyl versus intrathecal morphine for post-cesarean analgesia: a randomized non-inferiority clinical trial.
Reg Anesth Pain Med
January 2025
Department of Anesthesiology and Pain Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea
Background: Intrathecal morphine is the standard for post-cesarean analgesia but often causes pruritus and may be unavailable in resource-limited settings. This study assessed whether a combination of bilateral transversus abdominis plane (TAP) block and intrathecal fentanyl provides non-inferior analgesia compared with intrathecal morphine following cesarean delivery within the multimodal analgesia context.
Methods: Eighty mothers were randomized to receive either intrathecal fentanyl 10 µg with bilateral TAP block using 15 mL of 0.
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