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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 -
Annals of Translational Medicine Sep 2018The hemodynamic effects of mechanical ventilation can be grouped into three clinically relevant concepts. First, since spontaneous ventilation is exercise. In patients... (Review)
Review
The hemodynamic effects of mechanical ventilation can be grouped into three clinically relevant concepts. First, since spontaneous ventilation is exercise. In patients increased work of breathing, initiation of mechanical ventilatory support may improve O delivery because the work of breathing is reduced. Second, changes in lung volume alter autonomic tone, pulmonary vascular resistance, and at high lung volumes compress the heart in the cardiac fossa similarly to cardiac tamponade. As lung volume increases so does the pressure difference between airway and pleural pressure. When this pressure difference exceeds pulmonary artery pressure, pulmonary vessels collapse as they pass form the pulmonary arteries into the alveolar space increasing pulmonary vascular resistance. Hyperinflation increases pulmonary vascular resistance impeding right ventricular ejection. Anything that over distends lung units will increase their vascular resistance, and if occurring globally throughout the lung, increase pulmonary vascular resistance. Decreases in end-expiratory lung volume cause alveolar collapse increases pulmonary vasomotor tone by the process of hypoxic pulmonary vasoconstriction. Recruitment maneuvers that restore alveolar oxygenation without over distention will reduce pulmonary artery pressure. Third, positive-pressure ventilation increases intrathoracic pressure. Since diaphragmatic descent increases intra-abdominal pressure, the decrease in the pressure gradient for venous return is less than would otherwise occur if the only change were an increase in right atrial pressure. However, in hypovolemic states, it can induce profound decreases in venous return. Increases in intrathoracic pressure decreases left ventricular afterload and will augment left ventricular ejection. In patients with hypervolemic heart failure, this afterload reducing effect can result in improved left ventricular ejection, increased cardiac output and reduced myocardial O demand. This brief review will focus primarily on mechanical ventilation and intrathoracic pressure as they affect right and left ventricular function and cardiac output.
PubMed: 30370276
DOI: 10.21037/atm.2018.04.29 -
Best Practice & Research. Clinical... Oct 2014Hidradenitis suppurativa is a chronic relapsing disorder of the folliculopilosebaceous units (FPSUs). Its negative impact on quality of life is extreme, mainly due to... (Review)
Review
Hidradenitis suppurativa is a chronic relapsing disorder of the folliculopilosebaceous units (FPSUs). Its negative impact on quality of life is extreme, mainly due to the lack of early recognition, accurate diagnosis, and appropriate management. The support structure of the FPSUs is defective. Under the influence of endogenous reproductive hormones, exogenous hormones, androgens and their precursors in dairy products, and other dietary factors, the follicular unit is plugged and distended by retained keratin. Friction, shearing forces, and pressure lead to rupture and leakage of the ductal contents from the weakened FPSU, causing an inflammatory reaction mediated mainly by the innate immune system. Therapy requires patient comprehension and cooperation, counseling, aggressive hormonal and dietary modification, avoidance of the trauma that leads to rupture, active multimodal anti-inflammatory therapy, and early unroofing and debridement. The full therapeutic program is needed to avoid the aggressive surgery required if the condition is not diagnosed early and managed appropriately.
Topics: Diagnosis, Differential; Hidradenitis Suppurativa; Humans; Quality of Life
PubMed: 25214437
DOI: 10.1016/j.bpobgyn.2014.07.012 -
BMJ Case Reports Jan 2018A 35-year-old man stopped breathing after injecting a large dose of heroin. He subsequently received cardiopulmonary resuscitation from friends. He arrived to accident...
A 35-year-old man stopped breathing after injecting a large dose of heroin. He subsequently received cardiopulmonary resuscitation from friends. He arrived to accident and emergency department with Glasgow Coma Scale of 13. On examination, he had distended and tense abdomen. CT Thorax, Abdomen, and Pelvis confirmed massive tension pneumoperitoneum. A 14 Fr intravenous cannula was inserted through the umbilicus to relieve the intra-abdominal pressure. An emergency laparotomy showed petechia along the anterior gastric wall, haematoma of lesser omentum but showed no evidence of gastrointestinal perforation or organ injury. Air leak test performed by insufflating air into the stomach via nasogastric tube and abdomen filled with normal saline showed no leak. On-table oesophagogastroduodenoscopy showed mild oesophagitis and petechia of cardiac gastric mucosa. He was treated with intravenous antibiotics and discharged on the fifth postoperative day with adequate analgesia.
Topics: Abdominal Cavity; Adult; Analgesia; Anti-Bacterial Agents; Cannula; Cardiopulmonary Resuscitation; Decompression, Surgical; Drug Overdose; Heroin; Humans; Laparotomy; Male; Peritonitis; Pneumoperitoneum; Radiography, Abdominal; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 29386215
DOI: 10.1136/bcr-2017-223069 -
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 -
Journal of Obstetrics and Gynaecology... Jun 2016Congenital high airway obstruction syndrome (CHAOS) is a rare, usually lethal abnormality characterized by complete or near-complete intrinsic obstruction of the fetal...
INTRODUCTION
Congenital high airway obstruction syndrome (CHAOS) is a rare, usually lethal abnormality characterized by complete or near-complete intrinsic obstruction of the fetal airway. Laryngeal atresia is the most frequent cause, but other etiologies include laryngeal or tracheal webs, laryngeal cyst, subglottic stenosis or atresia, tracheal atresia and laryngeal or tracheal agenesis. When antenatal diagnosis of possible upper airway obstruction is made, specific type of obstruction is rarely determined making the term CHAOS introduced by Hedrick et al in 1994 more appropriate.
USG CHARACTERISTICS
Sonographic findings in CHAOS are characteristic and are secondary to high airway obstruction. The lungs are symmetrically enlarged, echogenic and homogenous. The distended lungs have mass effect on the diaphragm, which appears flattened or inverted, and the heart is displaced anteriorly in the midline. The heart often appears dwarfed by the surrounding enlarged lungs.
DISCUSSION
The primary abnormality is an intrinsic obstruction of the upper airway. Normal lung development involves a continuous efflux of fluid from the fetal lungs. Laryngeal atresia/CHAOS stops the efflux of this fluid, and this retained fluid distends the alveoli with fluid giving the lungs voluminous echogenic appearance and inverting the diaphragm. Isolated airway obstruction without hydrops has a relatively favorable prognosis. CHAOS with associated anomalies and with early presentation of hydrops is an ominous sign with a high rate of fetal demise and a poor survival rate even with the ex utero intrapartum treatment (EXIT) procedure.
PubMed: 27298534
DOI: 10.1007/s13224-016-0910-2 -
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