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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 -
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 -
European Journal of Obstetrics,... Sep 2019Perineal trauma may have a negative impact on women's lives as it has been associated with perineal pain, urinary incontinence and sexual dysfunction. The aim of this... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Perineal trauma may have a negative impact on women's lives as it has been associated with perineal pain, urinary incontinence and sexual dysfunction. The aim of this systematic review and meta-analysis of randomized controlled trials was to evaluate the effectiveness of warm compresses during the second stage of labor in reducing perineal trauma.
METHODS
Electronic databases were searched from inception of each database to May 2019. Inclusion criteria were randomized trials comparing warm compresses (i.e. intervention group) with no warm compresses (i.e. control group) during the second stage of labor. Types of participants included pregnant women planning to have a spontaneous vaginal birth at term with a singleton in a cephalic presentation. The primary outcome was the incidence of intact perineum. Meta-analysis was performed using the Cochrane Collaboration methodology with results being reported as relative risk (RR) with 95% confidence interval (CI).
RESULTS
Seven trials, including 2103 participants, were included in this meta-analysis. Women assigned to the intervention group received warm compresses made from clean washcloths or perineal pads immersed in warm tap water. These were held against the woman's perineum during and in between pushes in second stage. Warm compresses usually started when the baby's head began to distend the perineum or when there was active fetal descent in the second stage of labor. We found a higher rate of intact perineum in the intervention group compared to the control group (22.4% vs 15.4%; RR 1.46, 95% CI 1.22 to 1.74); a lower rate of third degree tears (1.9% vs 5.0%; RR 0.38, 95% CI 0.22 to 0.64), fourth degree tears (0.0% vs 0.9%; RR 0.11, 95% CI 0.01 to 0.86) third and fourth degree tears combined (1.9% vs 5.8%; RR 0.34, 95% CI 0.20 to 0.56) and episiotomy (10.4% vs 17.1%; RR 0.61, 95% CI 0.51 to 0.74).
CONCLUSION
Warm compresses applied during the second stage of labor increase the incidence of intact perineum and lower the risk of episiotomy and severe perineal trauma.
Topics: Adult; Female; Hot Temperature; Humans; Labor Stage, Second; Obstetric Labor Complications; Perineum; Pregnancy
PubMed: 31238205
DOI: 10.1016/j.ejogrb.2019.06.011 -
BMJ Case Reports Dec 2019Congenital chloride diarrhoea is one of the rare causes of diarrhoea during infancy and it is infrequently reported throughout the world. It is an autosomal recessive...
Congenital chloride diarrhoea is one of the rare causes of diarrhoea during infancy and it is infrequently reported throughout the world. It is an autosomal recessive condition which is more prevalent in Poland, Finland, Saudi Arabia and Kuwait while rarely reported in Pakistan. Our patient was 7.5-month-old baby boy who presented with diarrhoea since neonatal period. He had consanguineous parents. On examination, baby had distended abdomen, hypotonia and hyporeflexia. Investigations revealed hypochloremic hypokalemic metabolic alkalosis. Urinary electrolytes were normal. Stool electrolytes revealed increased stool chloride excretion that confirmed our diagnosis of congenital chloride diarrhoea. Patient was treated with intravenous fluids and electrolyte replacement, followed by oral potassium and sodium replacement. He was also started on butyrate, cholestyramine and proton-pump inhibitors. He started gaining weight during his hospital admission and is being followed up in clinic.
Topics: Consanguinity; Diarrhea; Electrolytes; Feces; Fluid Therapy; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Pakistan; Potassium; Sodium; Treatment Outcome; Weight Gain
PubMed: 31826900
DOI: 10.1136/bcr-2018-229012 -
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