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A Stop-gain Variant c.220C>T (p.(Gln74*)) in Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.
Yale J Biol Med
September 2023
Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.
Spondylocarpotarsal synostosis (SCT) syndrome is a very rare and severe form of skeletal dysplasia. The hallmark features of SCT are disproportionate short stature, scoliosis, fusion of carpal and tarsal bones, and clubfoot. Other common manifestations are cleft palate, conductive and sensorineural hearing loss, joint stiffness, and dental enamel hypoplasia.
View Article and Find Full Text PDFPrenatal radiographic evaluation of congenital transverse limb deficiencies: A scoping review.
World J Orthop
March 2023
Department of Orthopedic Surgery, Phoenix Children's Hospital, Phoenix, AZ 85016, United States.
Background: Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%. They can occur alone or represent a manifestation of a various clinical syndromes.
View Article and Find Full Text PDFComplications of Lung Transplantation: A Roentgenographic Perspective.
Chest
June 2016
Department of Pulmonary Medicine, Respiratory Institute, Cleveland Clinic, Cleveland, OH. Electronic address:
Lung transplantation is now an established treatment for a broad spectrum of end-stage pulmonary diseases. According to the International Society for Heart and Lung Transplantation Registry, more than 50,000 lung transplants have been performed worldwide, with nearly 11,000 lung transplant recipients alive in the United States. With the increasing application of lung transplantation, pulmonologists must be cognizant of common complications unique to the postlung transplant period and the associated radiologic findings.
View Article and Find Full Text PDFUnlabelled: The aim of the study was to improve the tactics of treatment of bronchoobstructive syndrome (BOS) in associative course with gastroesophageal reflux disease (GERD) in children.
Materials And Methods: 180 children aged 6-16 with diseases of the respiratory organs with BOS and GERD symptoms were examined: 85 of them--with bronchial asthma (BA), 34--with an acute course of pneumonia, 29--with recurrent obstructive bronchitis. Comparison groups were composed of 93 children, the number of practically healthy children (the control group) was 28 persons.
Comparison of roentgenographic manifestations of active pulmonary tuberculosis between migrant and non-migrant populations in the Hunter Region.
J Med Imaging Radiat Oncol
December 2015
Hunter New England Area Health Service, University of Newcastle, Newcastle, New South Wales, Australia.
Introduction: Active pulmonary tuberculosis in Australia is considered more common in migrants and the immunocompromised, but little data exist on how it manifests in non-migrants. This study identified the radiographic findings of active pulmonary tuberculosis in the Hunter Region, NSW, Australia, and determined whether this manifests differently in non-migrant and migrant populations.
Methods: We retrospectively analysed 64 patients over 8 years from the Hunter Region, who had positive Mycobacterium tuberculosis cultures and contemporaneous thoracic imaging.
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