Journal of medical cases最新文献

Trisomy 18 is the second most common autosomal trisomy aside from trisomy 21. Anesthesiologists were unlikely to manage such patients in the past, specifically those surviving later into childhood due to the 90% mortality rate within the first year of life and the lack of procedural options that were available. However, a paucity of literature regarding the anesthetic management of such patients exists. Trisomy 18 patients present a unique anesthetic challenge, given the presence of associated dysmorphic facial features and the involvement of multiple organ systems, leading to difficult airway and hemodynamic disturbances. In this case report, we present the anesthetic management of a 9-year-old patient with trisomy 18 undergoing a multilevel spinal fusion. Despite significant intraoperative hemorrhage, the patient was able to tolerate the procedure without complications, likely owing to the meticulous preoperative preparation and the patient's survival later into childhood. This case contributes to a small subset of literature which suggests that patients with trisomy 18 who survive later into childhood have an improved ability to tolerate general anesthesia.

This case report describes a novel therapy for patients with severe autism spectrum disorder (ASD) that is worth further investigation. A 19-year-old male adolescent with ASD, who was not responding to standard treatment received fecal microbiota transplant (FMT) using donor material from his typically developing female sibling. The patient's ASD symptoms were assessed by assessors who were blind to the patient's past ASD symptomatology. Assessors used the Childhood Autism Rating Scale (CARS), an observation-based rating scale to assess developmental delay in children with autism (range of CARS scores is 15 - 60; a score > 28 is indicative of autism; higher score is positively correlated with degree of severity), at baseline and again at six timepoints post-FMT. The patient experienced marked improvements in microbiome diversity and composition over the year and a half period that followed the FMT procedure. Additionally, the patient who was previously nonverbal said his first two words and experienced a reduction in aggression 1-month post-FMT. To the authors' knowledge, this is the first report to demonstrate the use of familial FMT in an adolescent patient with ASD. Given that ASD symptom improvements post-FMT tend to occur in younger patients, the authors hypothesize that the use of a familial donor may be an important factor that contributed to the improved outcomes experienced by this older child.

This study presents a case of norepinephrine and dobutamine-induced dynamic left ventricular outflow tract obstruction (LVOTO) caused by systolic anterior motion (SAM) in a patient experiencing acute anterior myocardial infarction (MI). In a 76-year-old patient presenting with acute MI, intensive use of norepinephrine and dobutamine may lead to the development of dynamic LVOTO and SAM. The presence of hypotension and a new cardiac murmur may suggest a mechanical complication such as acute mitral regurgitation (MR) or ventricular septal rupture (VSR). The assessment of the left ventricular outflow tract (LVOT) using echocardiography plays a critical role in the diagnosis of SAM and its associated MR and dynamic LVOTO. The patient's condition was stabilized through the cessation of inotropes and the implementation of aggressive fluid resuscitation, resulting in improved hemodynamics. In conclusion, prompt identification of the underlying pathophysiological mechanisms is imperative for effectively managing this condition and preventing hemodynamic exacerbation.

It is extremely rare for blunt abdominal trauma to result in serious injuries to hollow organs. Degloving injuries of the colon are one of the rarest injuries following blunt abdominal trauma. Intestinal degloving is often seen following rapid deceleration, changes in velocity, crushes and motor vehicle collisions (MVCs). Victims with intestinal degloving injuries can experience vague symptoms despite the severity of the lesion. We present the case of a 21-year-old male with insulin-dependent type 1 diabetes who was involved in a high-speed MVC. He sustained second- and third-degree burns to the extremities, right carotid artery dissection, and multiple fractures to the mandible, pelvis and forearm. Free fluid was also noted in the pelvis prompting an emergent exploratory laparotomy. In the operating room, he was found to have a cecal serosal injury involving more than 50% of the circumference and a sigmoid and descending colon degloving injury of 50 cm. The injured segments were resected, and primary anastomoses were created. Degloving of the colon is extremely rare and the sigmoid is one of the more frequently documented locations of injury. Our case contributes to the limited literature available pertaining to the treatment of evolution of these severe colon injuries.

Ectopic pregnancy, characterized by the aberrant implantation of blastocysts outside the uterine endometrial lining, typically occurs within the fallopian tube. Clinical presentation of tubal pregnancy ranges from asymptomatic cases to a spectrum of symptoms, including amenorrhea, pelvic pain, vaginal bleeding, and, critically, hemorrhagic shock resulting from tubal rupture. Utilizing serum beta-human chorionic gonadotropin levels and ultrasound examinations is pivotal in confirming the diagnosis. Diagnosing tubal pregnancy during the first trimester is feasible and crucial to prevent rupture, yet reports of fatal cases persist due to delays in diagnosis or misdiagnosis. This paper presents a unique case of an advanced tubal pregnancy at 13 weeks of gestation, featuring a viable fetus. This case underscores the importance of timely and accurate diagnosis to avoid life-threatening complications. It highlights the critical need for heightened medical vigilance and continuous education among healthcare professionals in managing ectopic pregnancies effectively.