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Acta Bio-medica : Atenei Parmensis Sep 2019Congenital hypothyroidism is a condition in which the thyroid gland does not produce enough thyroid hormones. It occurs in 1:2000-4000 newborns. Common clinical features... (Review)
Review
Congenital hypothyroidism is a condition in which the thyroid gland does not produce enough thyroid hormones. It occurs in 1:2000-4000 newborns. Common clinical features include decreased activity and increased sleep, feeding difficulty, constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, distended abdomen with umbilical hernia, and hypotonia. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment, congenital hypothyroidism leads to severe intellectual deficit and short stature. Congenital hyperthyroidism occurs when the thyroid gland produces too much of the hormone thyroxine, which can accelerate body metabolism, causing unintentional weight loss and a rapid or irregular heartbeat. Hyperthyroidism is very rare and its prevalence is unknown. Common clinical features include unintentional weight loss, tachycardia, arrhythmia, palpitations, anxiety, tremor and sweating. Here we summarize the genes involved in congenital hypo- and hyperthyroidism and the tests we use for genetic analysis.
Topics: Congenital Hypothyroidism; Genetic Predisposition to Disease; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Hyperthyroidism
PubMed: 31577260
DOI: 10.23750/abm.v90i10-S.8765 -
Neurosurgical Focus Jul 2019Unruptured intracranial aneurysms (UIAs) are relatively common lesions that may cause devastating intracranial hemorrhage, thus producing considerable suffering and... (Review)
Review
OBJECTIVE
Unruptured intracranial aneurysms (UIAs) are relatively common lesions that may cause devastating intracranial hemorrhage, thus producing considerable suffering and anxiety in those affected by the disease or an increased likelihood of developing it. Advances in the knowledge of the pathobiology behind intracranial aneurysm (IA) formation, progression, and rupture have led to preclinical testing of drug therapies that would prevent IA formation or progression. In parallel, novel biologically based diagnostic tools to estimate rupture risk are approaching clinical use. Arterial wall remodeling, triggered by flow and intramural stresses and mediated by inflammation, is relevant to both.
METHODS
This review discusses the basis of flow-driven vessel remodeling and translates that knowledge to the observations made on the mechanisms of IA initiation and progression on studies using animal models of induced IA formation, study of human IA tissue samples, and study of patient-derived computational fluid dynamics models.
RESULTS
Blood flow conditions leading to high wall shear stress (WSS) activate proinflammatory signaling in endothelial cells that recruits macrophages to the site exposed to high WSS, especially through macrophage chemoattractant protein 1 (MCP1). This macrophage infiltration leads to protease expression, which disrupts the internal elastic lamina and collagen matrix, leading to focal outward bulging of the wall and IA initiation. For the IA to grow, collagen remodeling and smooth muscle cell (SMC) proliferation are essential, because the fact that collagen does not distend much prevents the passive dilation of a focal weakness to a sizable IA. Chronic macrophage infiltration of the IA wall promotes this SMC-mediated growth and is a potential target for drug therapy. Once the IA wall grows, it is subjected to changes in wall tension and flow conditions as a result of the change in geometry and has to remodel accordingly to avoid rupture. Flow affects this remodeling process.
CONCLUSIONS
Flow triggers an inflammatory reaction that predisposes the arterial wall to IA initiation and growth and affects the associated remodeling of the UIA wall. This chronic inflammation is a putative target for drug therapy that would stabilize UIAs or prevent UIA formation. Moreover, once this coupling between IA wall remodeling and flow is understood, data from patient-specific flow models can be gathered as part of the diagnostic workup and utilized to improve risk assessment for UIA initiation, progression, and eventual rupture.
Topics: Cerebral Arteries; Cerebrovascular Circulation; Humans; Hydrodynamics; Inflammation; Intracranial Aneurysm; Models, Biological; Stress, Physiological
PubMed: 31261126
DOI: 10.3171/2019.5.FOCUS19234 -
Soins; La Revue de Reference Infirmiere 2020When medicine and humanities are dissociated and then reconciled, what is the meaning of "medical humanities" today? What are the strengths and weaknesses of the French...
When medicine and humanities are dissociated and then reconciled, what is the meaning of "medical humanities" today? What are the strengths and weaknesses of the French system? At a time when the link between the humanities and medicine seems more distended than ever, ten recommendations for developing and changing the way future doctors look at things are presented.
Topics: Education, Medical; France; Humanities; Humans; Schools, Medical
PubMed: 32245560
DOI: 10.1016/j.soin.2020.01.013 -
Annals of the Royal College of Surgeons... Nov 2022We report a rare complication involving a healthy 45-year-old male patient who underwent an emergency laparoscopic appendicectomy for acute perforated gangrenous...
We report a rare complication involving a healthy 45-year-old male patient who underwent an emergency laparoscopic appendicectomy for acute perforated gangrenous appendicitis. The patient was catheterised pre- procedure and the ports were inserted under vision. Upon completion of the procedure, a 15 Fr Robinson drain was left in the pelvis and was fed through the suprapubic port hole. Postoperatively the patient developed worsening, generalised abdominal pain and high output from the drain. The patient was re-catheterised but the computed tomography (CT) cystogram did not show any injury to the bladder. The drain fluid creatinine was noted to be raised (>4,000), indicating that urine was leaking into the drain. Conventional cystogram confirmed a contrast leak from the dome around the drain. Flexible cystoscopy confirmed that the drain had transversed the vesicourachal diverticula. The drain was pulled back and converted to a suprapubic catheter with the patient subsequently being discharged. Vesicourachal diverticula is a rare and often asymptomatic anomaly. When undertaking laparoscopic surgery, precautions should be taken to prevent port site injury such as catheterising the patient to ensure the bladder is empty and inserting the ports under direct vision. It is safer to visualise muscle rather than peritoneum during port insertion. In this case, the bladder diverticula was noticed extraperitoneally. Though the indirect CT cystogram reported no injury, this was unreliable as the bladder was not distended which led to the subtle injury being missed. Traditional cystogram should be considered in cases with a negative CT cystogram and a strong suspicion of bladder injury.
Topics: Male; Humans; Middle Aged; Urinary Bladder; Diverticulum; Urinary Bladder Diseases; Cystoscopy
PubMed: 35446699
DOI: 10.1308/rcsann.2021.0344 -
VideoGIE : An Official Video Journal of... Jan 2024Definitive peroral endoscopic treatment of pancreaticobiliary pathology in patients with surgically altered anatomy has recently been made more feasible by the use of... (Review)
Review
BACKGROUND AND AIMS
Definitive peroral endoscopic treatment of pancreaticobiliary pathology in patients with surgically altered anatomy has recently been made more feasible by the use of lumen-apposing metal stents (LAMS) to create bowel-to-bowel anastomoses. We aim to demonstrate 4 cases of non–gastric bypass Roux-en-Y anatomy for which an enteroenterostomy was created under EUS guidance to facilitate complex peroral ERCP.
METHODS
Akin to EUS-directed transgastric ERCP, the approach to EUS-directed transenteric ERCP involves identification and expansion of the target bowel before transmural puncture and stent placement. Bowel irrigation is used to opacify and distend the pancreaticobiliary limb in reasonable proximity to the papilla or biliary-enteric anastomosis, which facilitates enteroenterostomy creation via LAMS placement. Peroral ERCP can be performed through anastomosis, generally using a therapeutic gastroscope, once the transmural tract has matured.
RESULTS
In 4 cases of biliary obstruction, peroral ERCP was successfully performed after creation of an enteroenterostomy. In 3 of the 4 cases, target bowel opacification and distention were achieved by continuous irrigation through a previously placed percutaneous transhepatic cholangiography tube. In one case, a gastro-jejunostomy was created after irrigation of the target bowel loop via antegrade catheter advanced through a prior hepaticogastrostomy. No major adverse events occurred. In 2 of the 4 patients, the endoscopic objective (stone clearance) was met and the transenteric LAMS was removed. The other 2 patients are still undergoing serial ERCP.
CONCLUSIONS
EUS-guided enteroenterostomy permits safe and effective peroral ERCP, allowing for more efficient and effective treatment of pancreaticobiliary pathology in patients with surgically altered anatomy.
PubMed: 38239185
DOI: 10.1016/j.vgie.2023.09.007