Congenital insensitivity to pain with anhidrosis (CIPA) is a rare condition with protean manifestations. Occasionally, these diseases may present with musculoskeletal problems. Here we report a case of young child who presented with joint problems in our clinic. Since the child had a number of musculoskeletal manifestations her diagnosis was difficult and delayed. She was given supportive treatment and a team of doctors from different specialties was involved in her management.
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Cureus
December 2024
Prosthodontics, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Vaginal agenesis, a rare and complex congenital anomaly predominantly linked to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome or complete androgen insensitivity syndrome (CAIS), demands innovative and highly individualized treatment strategies to achieve anatomical and functional restoration. While non-surgical options like vaginal dilation remain foundational, the advent of custom-made stents has redefined the paradigm of care, emerging as a transformative tool in both post-surgical and non-surgical management. Bridging the expertise of prosthodontics and gynecology, personalized stents not only enhance healing and maintain patency but also elevate patient comfort and compliance.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Orthopaedics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Background: Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1). The condition is characterized by multiple injuries, recurrent infections, and mental retardation.
View Article and Find Full Text PDFCurr Issues Mol Biol
December 2024
Department of Medical and Molecular Biology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, 19 Jordana, 41-800 Zabrze, Poland.
Misshapen/NIKs-related kinase (MINK) 1 belongs to the mammalian germinal center kinase (GCK) family. It contains the N-terminal, conserved kinase domain, a coiled-coil region, a proline-rich region, and a GCK, C-terminal domain with the Citron-NIK-Homology (CNH) domain. The kinase is an essential component of cellular signaling pathways, which include Wnt signaling, JNK signaling, pathways engaging Ras proteins, the Hippo pathway, and STRIPAK complexes.
View Article and Find Full Text PDFJ Am Heart Assoc
January 2025
Graduate Program in Translational Biology Medicine and Health, Virginia Tech Roanoke VA USA.
Background: Previous studies suggest the relationship between activation time (AT) and action potential duration (APD) in the heart is dependent on electrotonic coupling, but this has not been directly tested. This study assessed whether acute changes in electrical coupling, or other determinants of conduction or repolarization, modulate APD heterogeneity.
Methods And Results: Langendorff-perfused guinea pig hearts were epicardially paced and optically mapped after treatment with the gap junction uncoupler carbenoxolone, ephaptic uncoupler mannitol, ephaptic enhancer dextran 2MDa, sodium channel inhibitor flecainide, or rapid component of the delayed rectifier potassium channel inhibitor E4031.
Clin Case Rep
December 2024
Department of Obstetrics and Gynecology Tribhuvan University, Institute of Medicine Kathmandu Nepal.
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare congenital disorder characterized by agenesis of the uterus and upper two-thirds of the vagina. It affects around 1 in 4000-5000 females and is of two types: type 1, also known as isolated Müllerian aplasia or Rokitansky, which involves only uterovaginal agenesis, and type 2, presents as uterovaginal agenesis along with renal, cardiac, and other organ anomalies. Despite the absence of vaginal and uterine structures, individuals with MRKHS typically present with normal secondary sexual characteristics and ovarian functions.
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