Sometimes in practice of anaesthesia, anaesthesiologist encounters patients with rare congenital diseases. To anaesthesiologist, these patients are a challenge due to inherent complications associated with the disease. Here, we are reporting a case of osteogenesis imperfecta who was posted for the surgery for vesical calculus. All investigations were done to rule out any cardio-respiratory abnormalities, bleeding disorders, which are commonly associated with these patients. Caudal epidural was chosen as anaesthesia technique of choice as spinal anaesthesia was anticipated to be difficult due to associated kyphoscoliosis. GA was avoided due to anticipated difficult airway, restrictive lung disease and susceptibility to malignant hyperthermia. We emphasize the importance of proper preanaesthetic evaluation, intellectual, mental and logistical preparation which should be done before anaesthetising these types of patients.
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Interv Cardiol
November 2024
Department of Cardiology, Heart, Vascular and Thoracic Institute, Cleveland Clinic Abu Dhabi Abu Dhabi, United Arab Emirates.
With the emergence of less invasive transcatheter valvular therapies, there remains a limited understanding of the feasibility and durability of these approaches in patients with osteogenesis imperfecta and whether they can offer a suitable alternative to conventional surgery. In this context, and with a focus on mitral repair, we report on a case of mitral transcatheter edge-to-edge repair in a patient with osteogenesis imperfecta and conduct a comprehensive review of the characteristics and outcomes of reported osteogenesis imperfecta cases undergoing surgical or transcatheter mitral repair. Given the high burden of complications of surgery in this population, transcatheter mitral repair could potentially serve as a suitable alternative to conventional surgery in this challenging population.
View Article and Find Full Text PDFAm J Med Genet A
December 2024
Department of Internal Medicine, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Osteogenesis imperfecta (OI) is a rare disease, hallmarked by bone fragility, multiple fractures, and deformities, and is commonly caused by pathogenic variants in the genes encoding type I collagen. Type II OI is the most severe form and is lethal in the perinatal period. Here, we report recurrence of perinatal lethal OI in two fetuses due to parental mosaicism for a deep intronic pathogenic variant at c.
View Article and Find Full Text PDFCureus
November 2024
Neonatology Department, Maternidade Daniel de Matos, Unidade Local de Saúde de Coimbra, Coimbra, PRT.
Craniotabes is characterized by the softening of skull bones in newborns. It can be associated with conditions like rickets, congenital syphilis, and osteogenesis imperfecta. In otherwise healthy newborns, craniotabes is often linked to in utero vitamin D deficiency.
View Article and Find Full Text PDFClin Oral Investig
December 2024
Department of Surgical Sciences, C.I.R. Dental School, University of Turin, Turin, Italy.
Objectives: The aim of the present study was to evaluate salivary gland function and oral health status in Osteogenesis imperfecta (OI) children, comparing to a control group, and to investigate the possible influence of bisphosphonate (BP) treatment.
Materials And Methods: Patients aged 8-15 years with any OI molecularly confirmed and gender-matched healthy control were consecutively recruited at the Section of Pediatric Dentistry (Dental School-University of Turin). Comprehensive dental examinations were conducted to evaluate carious lesions, plaque and gingival index, stimulated saliva flow rate, pH, and buffer capacity.
J Orthop Case Rep
December 2024
Department of Orthopaedics, KIMS-Sikhara Hospital, Guntur, Andhra Pradesh India.
Introduction: Bisphosphonates have become the standard drugs for the medical management of patients with moderate-to-severe forms of osteogenesis imperfecta (OI). This study was undertaken to study the effect of parenteral pamidronate or oral alendronate therapy, on bone healing after osteotomies in patients with moderately severe forms (Sillence type 4) of OI.
Materials And Methodology: We retrospectively evaluated the effects of bisphosphonate therapy on the healing of seven osteotomies in five patients of OI (Sillence type 4) who underwent Sofield Millar procedure for deformity correction and non-union of long bone fractures.
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