Results 41 to 50 of about 28,871 (255)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Post-esophagectomy chylothorax refractory to mass ligation of thoracic duct above diaphragm: a case report

Journal of Cardiothoracic Surgery, 2022
Background Post-esophagectomy chylothorax is a relatively rare but potentially lethal complication. The treatment strategy of post-esophagectomy chylothorax remains a subject of debate which mainly focuses on the indication and timing of surgical ...
Shengxi Wang, Wenpeng Jiang
doaj   +1 more source

Gephyrin Neurological Autoimmunity

Annals of Neurology, EarlyView.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon   +10 more
wiley   +1 more source

Case Report: Thoracic duct ligation for left-sided chylothorax after pneumonectomy with contralateral VATS procedure using indocyanine green fluorescence

Frontiers in Surgery
IntroductionChylothorax is a rare but potentially life-threatening condition characterized by the accumulation of lymphatic fluid in the pleural cavity.
Chiara Anna Schiena, Mario Pezzella, Eleonora Faccioli, Alessandro Rebusso, Giovanni Comacchio, Stefano Silvestrin, Michele Battistel, Edoardo Rosellini, Andrea Dell’Amore, Federico Rea, Samuele Nicotra   +10 more
doaj   +1 more source

Traumatic Chlye Leak In Neck: An Uncommon and Serious Complication

Journal of Clinical and Biomedical Sciences, 2019
The lymph from the entire left side of body and right side of body below the diaphragm flows through the thoracic duct. The lymph from rest of the body flows through the right thoracic duct.
Dr. S M Azeem Mohiyuddin
doaj   +1 more source

Osteological correlates of the respiratory and vascular systems in the neural canals of Mesozoic ornithurines Ichthyornis and Janavis

The Anatomical Record, EarlyView.
Abstract In birds, the neural canal houses a variety of anatomical structures including the spinal cord, meninges, spinal vasculature, and respiratory diverticula. Among these, paramedullary diverticula and the extradural dorsal spinal vein may leave behind osteological correlates in the form of pneumatic foramina and fossae, and a bilobed geometry of ...
Jessie Atterholt, M. Grace Burton, Mathew J. Wedel, Juan Benito, Ellen Fricano, Daniel J. Field   +5 more
wiley   +1 more source

Thoracic duct cyst of the mediastinum

The Journal of Thoracic and Cardiovascular Surgery, 1980
A case of mediastinal thoracic duct cyst is described. It is believed to be the first to be diagnosed before thoracotomy. Seven surgically treated cases have been reported but in none was the diagnosis made before operation. This case report concerns a 49-year-old woman who was operated upon because of a thoracic duct cyst that had been diagnosed by ...
R, Tsuchiya, Y, Sugiura, T, Ogata, K, Suemasu   +3 more
openaire   +2 more sources

An ontological morphological phylogenetic framework for living and extinct ray‐finned fishes (Actinopterygii)

The Anatomical Record, EarlyView.
Abstract The ray‐finned fishes include one out of every two species of living vertebrates on Earth and have an abundant fossil record stretching 380 million years into the past. The division of systematic knowledge of ray‐finned fishes between paleontologists working on extinct animals and neontologists studying extant species has obscured the ...
Jack Stack
wiley   +1 more source

Morphometric analysis of postnatal lung development in the gray short‐tailed opossum (Monodelphis domestica): An ultrastructural study

The Anatomical Record, EarlyView.
Abstract An ultrastructural morphometric analysis of the postnatal development of the lung in the gray short‐tailed opossum (Monodelphis domestica) has been conducted to evaluate the morphofunctional status of this poorly developed marsupial lung immediately following parturition.
Kirsten Ferner
wiley   +1 more source