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Thick skin and thicker arteries: case report on a rare cause of hypertension.
Pediatr Nephrol
January 2025
Department of Paediatric Nephrology, Christian Medical College, Vellore, India.
Renovascular hypertension is the second leading cause of hypertension. Twenty-seven genes have been attributed to monogenic renovascular hypertension at present. We present a 15-year-old boy with facial dysmorphism, thick skin and renovascular hypertension with a novel gain-of-function variant in SMAD4 gene suggesting Myhre syndrome.
View Article and Find Full Text PDFSexual Abuse as a Cause of Sexually Transmitted Infections (STI) and Human Immunodeficiency Virus (HIV) in a Bisexual Adolescent Indonesian: A Case Report.
HIV AIDS (Auckl)
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran - Dr. Hasan Sadikin Hospital, Bandung, West Java, Indonesia.
Sexual abuse is any non-consensual sexual act or behavior using force, with significant concern in "men who have sex with men" (MSM), and younger individuals. The incidence of sexually transmitted infections (STI) is also prevalent in the cases of sexual abuse in this population, showing the need for comprehensive medical and psychological intervention. This study presents a case of a 15-year-old Indonesian MSM adolescent who experienced three forced sexual intercourse with a mid-thirties male friend 6 months before the consultation.
View Article and Find Full Text PDFA Case Report of an Immature Pituitary-Specific Transcription Factor 1 (PIT1)-Lineage Pituitary Neuroendocrine Tumor Along With Its Cytology and Ultrastructural Studies.
Cureus
December 2024
Department of Pathology, Section of Oncopathology and Morphological Pathology, Faculty of Medicine, University of Miyazaki, Miyazaki, JPN.
Immature pituitary-specific transcription factor 1 (PIT1)-lineage pituitary neuroendocrine tumors are composed of PIT1-lineage cells with cytological atypia and limited differentiation. These tumors are rare and no cytological features of this neoplasm have been reported. This study is the first to report the cytological features of an immature PIT1-lineage tumor.
View Article and Find Full Text PDF[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2025
Department of Pediatric Neurology, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Objective: To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously.
Methods: Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed.
Recurrent Jaundice Unraveled: A Case of Benign Recurrent Intrahepatic Cholestasis (BRIC) in an Indian Patient.
Cureus
November 2024
General Medicine, Felix Hospital, Noida, IND.
Benign recurrent intrahepatic cholestasis (BRIC) is a rare, autosomal recessive liver disorder characterized by intermittent episodes of cholestasis without progression to chronic liver disease or cirrhosis. Patients experience recurrent jaundice and severe pruritus, significantly impacting their quality of life. This case report presents a 15-year-old boy with a history of recurrent jaundice and pruritus.
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