Results 101 to 110 of about 300,155 (312)

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt   +4 more
wiley   +1 more source

Geriatric nutritional risk index as a predictor of major postoperative complications in emergency femoral hernia patients

open access: yesBMC Surgery
Background To evaluate the prognostic values of GNRI for major postoperative complications in emergency femoral hernia patients. Methods In this cross-sectional study, we enrolled 105 emergency femoral hernia patients.
Qiuyue Ma   +5 more
doaj   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp   +7 more
wiley   +1 more source

C6orf15 promotes liver metastasis via WNT/β-catenin signalling in colorectal cancer

open access: yesCancer Cell International
Background Colon cancer ranks third among global tumours and second in cancer-related mortality, prompting an urgent need to explore new therapeutic targets.
Jiankang Yu   +5 more
doaj   +1 more source

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan   +77 more
wiley   +1 more source

Abdominal intercostal hernia: a rare complication after blunt trauma. [PDF]

open access: yes, 2013
Abdominal intercostal hernia (AIH) is uncommonly reported in the literature with only 20 cases reported to date.1–3 We report a case of a delayed incarcerated AIH secondary to blunt trauma from a motor vehicle accident in which the colon and diaphragm ...
Cowan, MD, Scott W.   +3 more
core   +1 more source

Diaphragmatic hernia following oesophagectomy for oesophageal cancer – Are we too radical? [PDF]

open access: yes, 2016
Background: Diaphragmatic herniation (DH) of abdominal contents into the thorax after oesophageal resection is a recognised and serious complication of surgery.
Alijani, A.   +7 more
core   +3 more sources

A mouse coccygeal intervertebral disc degeneration model with tail‐looping constructed using a suturing method

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A novel, simple coccygeal intervertebral disc degeneration model, using a suturing method for tail‐looping, without the need for external fixation and complex surgery. The model has high reproducibility and stability and overcomes the disadvantages of the existing animal models of disc degeneration.
Wei Xie   +11 more
wiley   +1 more source

Towards Polymer Composite‐Based Transient Electronic Systems

open access: yesAdvanced NanoBiomed Research, EarlyView.
Biodegradable electronic systems are gaining attention for implantable biomedical applications, targeting disease treatment and lifespan extension. This review covers advances in biocompatible, biodegradable polymer composites using synthetic and natural polymers with conductive, semiconductive, and insulating fillers.
Gwan‐Jin Ko   +5 more
wiley   +1 more source

Multiple acquired portosystemic shunts in a cat secondary to chronic diaphragmatic rupture [PDF]

open access: yes, 2015
A cat with a chronic diaphragmatic rupture presented with neurological signs, including twitching and focal seizures. Blood ammonia level was markedly elevated and therefore neurological signs were thought to be related to hepatic encephalopathy ...
Birchard SJ   +3 more
core   +2 more sources

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