West syndrome is a rare epileptic disease of infancy, typified by an association of characteristic spasms, hypsarrhythmia on electroencephalography and severe psychomotor retardation or deterioration. Adrenocorticotropic hormone (ACTH) is the current first-line therapy for West syndrome despite the fact that ACTH therapy is associated with various adverse effects. We describe a rare case of iatrogenic diabetes mellitus during ACTH therapy in a patient with symptomatic West syndrome. The infant had cushingoid facies, hirsutism and biochemical evidence of diabetes due to excessive glucocorticoid production with hyperplasia of both adrenal glands at ultrasound examination, without mineralocorticoid excess; in addition, he presented also short-term weight gain, marked electrolyte disturbances, hypokalemic alkalosis and infections. When ACTH is used to treat patients with West syndrome, it is necessary to follow glycemic levels until to the end of therapy.
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http://dx.doi.org/10.1007/s00592-011-0253-5 | DOI Listing |
Orbit
January 2025
Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
Ablepharon macrostomia syndrome is a rare congenital disorder caused by autosomal-dominant mutations. This condition is characterized by redundant skin, low-set ears, macrostomia, ambiguous genitalia, and underdevelopment of the both upper and lower eyelids. The shortening of the anterior lamella, septum and levator aponeurosis lead to a severe corneal exposure within the first hours of life.
View Article and Find Full Text PDFIndian J Psychiatry
November 2024
Department of Neurology, Institute of Neurosciences Kolkata, West Bengal, India.
Ann Thorac Surg Short Rep
June 2024
Department of Cardiothoracic Surgery, St Francis Hospital, Roslyn, New York.
We present the case of a 72-year-old man diagnosed with an aortic root aneurysm who was then diagnosed with Marfan syndrome. The patient suffered an intraoperative type B dissection with lower extremity malperfusion managed with an axillary-bifemoral extra-anatomic bypass.
View Article and Find Full Text PDFNeurogastroenterol Motil
January 2025
School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia.
Background: Disorders of gut-brain interactions (DGBI) affect more women, and marital quality may have been a factor that explains clinical manifestations of DGBI-however, the mechanism is unclear. This study aimed to elucidate supported relationships between DGBI with marital quality and clinical attributes in married Malay women.
Methods: This cross-sectional study involved married Malay women with functional dyspepsia (FD), irritable bowel syndrome (IBS), and FD-IBS overlap per Rome IV criteria.
BMC Gastroenterol
January 2025
Department of Gastroenterology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, Szczecin, 71-254, Poland.
Background: Functional gastrointestinal disorders (FGIDs), now known as disorders of gut-brain interaction (DGBIs), such as Irritable Bowel Syndrome (IBS) and Functional Dyspepsia (FD), significantly impact global health, reducing quality of life and burdening healthcare systems. This study addresses the epidemiological gap in Poland, focusing on the West Pomeranian Voivodeship.
Methods: We conducted a cross-sectional study of 2070 Caucasian patients (58.
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