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Whole-exome sequencing identifies novel mutation in intrahepatic cholestasis of pregnancy: A case report and literature review.
Z Geburtshilfe Neonatol
January 2025
Department of Obstetrics and Gynecology, Sichuan University West China Second University Hospital, Chengdu, China.
Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disease characterized by pruritus and elevated total bile acid (TBA) levels. The most serious impact of ICP is sudden unexplained intrauterine fetal death, especially when an associated TBA ≥ 100 µmol/L is confirmed.We report a case of a 27-year-old female patient with early-onset severe refractory ICP.
View Article and Find Full Text PDFComplications of Post-Roux-en-Y Gastric Bypass: A Case of Excluded Stomach Perforation.
Cureus
December 2024
Trauma and Acute Care Surgery, Northeast Georgia Medical Center Gainesville, Gainesville, USA.
Roux-en-Y gastric bypass (RYGB) is a common surgical treatment for morbid obesity, but rare complications involving the excluded gastric remnant can pose significant challenges. A 65-year-old female with a history of RYGB presented with sudden onset of left upper quadrant abdominal pain, bloating, nausea, and loss of appetite. Laboratory tests revealed leukocytosis.
View Article and Find Full Text PDFMalignant hypertension induces thrombotic microangiopathy and renal failure: A case report.
Medicine (Baltimore)
January 2025
Faculty of Chinese Medicine, Macau University of Science and Technology, Taipa, Macau, China.
Rationale: Thrombotic microangiopathies (TMA) caused by malignant hypertension is an acute and critical disease among rare diseases. Although renal biopsy pathology is a golden indicator for diagnosing kidney disease, it cannot distinguish between primary and secondary TMA and requires a comprehensive diagnosis in conjunction with other laboratory tests and medical history.
Patient Concerns: A 33-year-old young man was hospitalized due to unexplained kidney failure.
Atypical Presentation of Andersen-Tawil Syndrome: Heart Failure with Reduced Ejection without Periodic Paralysis or Dysmorphic Features.
Eur J Case Rep Intern Med
December 2024
Internal Medicine, Holy Family Hospital, Rawalpindi, Pakistan.
Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias. The syndrome exhibits incomplete penetrance, leading to a broad spectrum of clinical manifestations, making diagnosis challenging.
View Article and Find Full Text PDFRegional differences in survival after ICD implantation.
Acta Cardiol
January 2025
Department of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium.
Background: The implantable cardioverter-defibrillator (ICD) remains the cornerstone in the prevention of sudden cardiac death. Cost-effectiveness depends on survival after implantation. In Belgium there are unexplained major differences in 3-year mortality after ICD implantation.
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