The neuroimaging of Leigh syndrome: case series and review of the literature.

Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identified mutations in the nuclear and mitochondrial genomes. Here we review the clinical features and imaging studies of Leigh syndrome and describe the neuroimaging findings in a cohort of 17 children with genetically confirmed Leigh syndrome. MR findings include lesions in the brainstem in 9 children (53%), basal ganglia in 13 (76%), thalami in 4 (24%) and dentate nuclei in 2 (12%), and global atrophy in 2 (12%). The brainstem lesions were most frequent in the midbrain and medulla oblongata. With follow-up an increased number of lesions from baseline was observed in 7 of 13 children, evolution of the initial lesion was seen in 6, and complete regression of the lesions was seen in 3. No cerebral white matter lesions were found in any of the 17 children. In concordance with the literature, we found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes. Lesions in Leigh syndrome evolve over time and a lack of visible lesions does not exclude the diagnosis. Reversibility of lesions is seen in some patients, making the continued search for treatment and prevention a priority for clinicians and researchers.

The role of trauma services in intentional self-harm at a regional level 1 trauma center.

INTRODUCTION: Suicide claims many lives globally, each year. For every person that dies by suicide, multitudes more attempt it. A national shortage of psychiatrists may prevent many individuals from receiving timely mental health care. For many individuals, the primary entry point into the healthcare system is through the emergency department. The trauma service frequently treats patients with severe self-inflicted injuries and for many this is not the first time. This represents an opportunity for intervention to disrupt the cycle and prevent future death. METHODS: We conducted a retrospective chart review of all patients with self-inflicted injuries, admitted to the trauma surgery service between 2012 and 2021. All patients above 10 years old were included. RESULTS: Four hundred forty-one patients were admitted due to self-injurious behavior in the period under study. The majority of patients (71.9%) had a pre-existing mental health disorder. Fifty six patients suffered fatal injuries; the majority were White (78.6%), males (80.3%), and were inflicted by gunshot (71.4%). Nearly one third of patients with self-inflicted injuries had a history of self-injurious behavior with the average number of attempts being 2.7 (SD: ±3.8). CONCLUSIONS: We need interdisciplinary and innovative solutions for this public health crisis. Perhaps telemedicine can be used to buttress the access to adequate mental health care. More research needs to be done to better identify the barriers individuals encounter in accessing mental health care, both pre- and post-crisis. The goal is that, by identifying the gaps, we can collaboratively bridge them to prevent a preventable death.

A complex genitourinary injury following gunshot in a 12 Year old and systematic review.

We highlight the case of a 12 year old male who presented after sustaining a gunshot injury to the scrotum resulting in testicular, prostatic, and urethral transection in addition to pelvic fracture, extra peritoneal bladder injury, and transmural injury to recto sigmoid and ileum. The patient underwent a left orchiectomy, primary repair of the bladder and urethra, placement of universal plate on superior pubic rami, and segmental rectosigmoid and ileum resection. These findings illustrate the collaborative efforts of trauma surgery and urology to treat complex lower genitourinary (GU) injuries and how the direct prioritization of surgical efforts provides acceptable outcomes.

The Presence of Nucleated Red Blood Cells as an Indicator for Increased Mortality and Morbidity in Burn Patients.

Nucleated red blood cells (NRBCs) have been studied in critically ill and injured patients as a predictor of increased in-hospital mortality and poor clinical outcomes. While prior studies have demonstrated the prognostic power of NRBCs in the critical patient, there has been a paucity of literature available describing their value as a prognostic indicator in the severely burned patient. This retrospective observational study was conducted from 2012 to 2017. Inclusion criteria for this study included all burn patients with total body surface area > 10% who were aged ≥ 15 years. Demographic and clinical data were collected from the electronic medical record system. Data analysis consisted of descriptive and comparative analysis using SPSS. Two hundred and nineteen patients (17.5%) met inclusion criteria with 51 (23.3%) patients positive for NRBCs. The presence of NRBCs had an increased mortality rate with an odds ratio of 6.0 (P = .001; 2.5, 14.5); was more likely to appear in older patients (P < .001); and was associated with increased hospital length of stay (P < .001), injury severity scores (P < .001), and complications. The presence of NRBCs even at the low concentrations reported in our study showed a 6-fold increase in the rate of mortality. With the current improvements in burn care leading to higher survival rates, the need to improve upon the numerous models that have been developed to predict mortality in severe burn patients is clear given the significantly increased risk of death that the presence of NRBCs portends.

A Single Center Review of the Dangers of Recreational Fires in the Pediatric Population.

The increasing trend of admissions due to recreational fires prompted a 5-year review. The retrospective chart review of pediatric burn injuries from campfires or bonfires treated at a single medical center's burn unit. The study included children within the ages of 0 to 15 admitted or transferred from January 2012 to December 2016 with first, second, and/or third degree burns by bonfires. These patients accrued burns due to active fires as well as postfire ember contact. Two hundred-eighty nine (289) were pediatric admissions out of which 66 (22.8%) were pediatric admissions associated with recreational fires. The mean annual admission for campfire or bonfire burns was 13 ± .98. The mean age was 4 ± 2.47 years. Gender distribution revealed 21 female and 45 male pediatric patients under the age of 15. From the available data, 8 (12%) of these burns occurred at home in the backyard and 16 (24%) at a public camp or park. Injury mechanisms were more commonly a result of direct contact with hot coals and embers (65%). Falls into open flame accounted for 23% (n = 15) of injuries, and flash flames accounted for 12% of injuries (n = 8). The presence of supervision was unknown in 56%; however, lack of supervision was a factor in 14% of our study population. By gaining a better understanding of the type of injury, mechanism of injury, and the demographic of recreational fire burn victims, policy, and awareness campaigns were instituted in an effort to reduce the incidence of recreational fire burns.

Isolated right atrial rupture from blunt trauma: a case report with systematic review of a lethal injury.

BACKGROUND: Isolated right atrial rupture (IRAR) from blunt chest trauma is rare. There are no physical exam findings and non-invasive testing specific to the condition, which result in diagnostic delays and poor outcomes. We present a case of IRAR along with a systematic review of similar cases in the literature. CASE REPORT: A 23-year-old male presented following a motor vehicle accident (MVA). He was bradycardic and hypotensive during transportation; and required intubation. There were contusions along the right chest wall with clear breath sounds, and no jugular venous distension, muffled heart sounds. Hemodynamic status progressively worsened, ultimately leading to his death. However, no external sources of bleeding or evidence of cardiac tamponade was found. METHODS: A search of PubMed, Ovid, and the Cochrane Library using: (Blunt OR Blunt trauma) AND (Laceration OR Rupture OR Tear) AND (Right Atrium OR Right Atrial). Articles were included if they were original articles describing cases of IRAR. RESULTS: Forty-five reports comprising seventy-five (n = 75) cases of IRAR. CONCLUSION: IRAR most commonly occurs following MVAs as the result of blunt chest trauma. Rupture occurs at four distinct sites and is most commonly at the right atrial appendage. IRAR is a diagnostic challenge and requires a high index of suspicion, as patients' hemodynamics can rapidly deteriorate. The presentations vary depending on multiple factors including rupture size, pericardial integrity, and concomitant injuries. Cardiac tamponade may have a protective effect by prompting the search for a bleeding source. A pericardial window can be diagnostic and therapeutic in IRAR. Outcomes are favourable with timely recognition and prompt surgical intervention.

Endo GIA stapler malfunction in a small bowel loop resection.

Endovascular gastrointestinal anastomosis (Endo-GIA) staplers are widely used in various surgical procedures despite difficulties in operating them and associated mechanical failures. We present a case of a patient whose post-operative recovery was complicated by intraoperative Endo-GIA stapler failure, which is rarely reported in literature. Our report describes the behavior and consequences of surgical stapler failure so surgeons can anticipate challenges of newer surgical devices while maintaining optimal patient outcomes.

Superficial femoral artery transection following penetrating trauma.

We describe a patient who sustained a penetrating injury to the posterior right lower extremity just above the popliteal region with transection of the superficial femoral artery (SFA) despite minimal evidence of active bleeding. An on-table angiogram identified flow in the SFA followed by the popliteal artery and into the trifurcation of the right lower extremity. Eventually, a second operation revealed transection followed by end-to-end anastomosis of SFA and stabilization of the patient. The findings of this case highlight the need for a high index of suspicion and persistent clinical investigation to identify vascular injuries in the absence of hard signs of vascular trauma.

Traumatic arteriovenous fistula formation secondary to crush injury.

We describe a patient who suffered a crush injury after a motor vehicle accident leading to complex pelvic injuries complicated by an AV fistula. Traumatic arteriovenous (AV) fistulas from blunt, non-penetrating injuries are uncommon and rarely described in medical literature. A CT followed by pelvic angiogram performed by interventional radiology revealed a traumatic fistula which was then treated by embolization. Patient underwent exploratory laparotomy, craniotomy and open reduction internal fixation of pelvis and was stabilized prior to discharge to rehabilitation.

Management of chronic abdominal wall seroma with Doxycycline sclerotherapy using a Negative Pressure Wound Therapy System KCI-V.A.C.Ulta™-A case report.

INTRODUCTION: Seroma is a common and challenging post-operative complication that surgeons are often faced with after performing procedures in which tissue dead spaces have been created. The management strategies consist of non-operative management, percutaneous drainage, or surgical drainage. Our case report discusses the use of Doxycycline sclerotherapy in the successful resolution of a chronic abdominal wall seroma. PRESENTATION OF CASE: We present the case of a 50 year old patient with extensive history of multiple abdominal surgeries, including appendectomy, multiple hernia repairs with recurrent mesh replacement as a result of infection followed by post-operative formation of seroma after each repair. Recently, patient underwent panniculecotomy complicated by seroma that was successfully resolved with the use of doxycycline sclerotherapy. DISCUSSION: Sclerotherapy has been used previously in the surgical field such as thoracic surgery, as a successful use of sclerosants in chronic pleural effusions has been documented. Sclerosants range from talc, tetracycline antibiotics, ethanol, polidocanol, erythromycin, OK-432, fibrin glue, and povidone-iodine, and are largely safe and easily applicable. Doxycycline in particular can be a simple and effective method for resolution of chronic seroma. This case demonstrates the successful use of doxycycline in the resolution of a chronic abdominal wall seroma. CONCLUSION: Chronic and recurrent seroma after surgery can be difficult to deal with. Using sclerosants such as Doxycycline would be an effective solution to treat this chronic issue and to prevent its recurrence especially if it is used with a Negative Pressure Wound Therapy System.

Acute Organoaxial gastric volvulus: A massive problem with a twist-case report.

INTRODUCTION: Gastric volvulus (GV) is a rare and life threatening condition if not treated promptly or wrongly diagnosed. The main complication of gastric volvulus is foregut obstruction. The extreme rotation can cut off blood supply to the stomach and even distal organs, which can lead to ischemia and necrosis of the affected area. PRESENTATION OF CASE: We report a case of a 41yo female that complained of severe abdominal pain, nausea and vomiting for approximately 3days after eating a large meal. The patient didn't have any flatus or bowel movements in the last 24h. CT of the abdomen and pelvis showed a dilatation of the stomach and esophageal hernia. Laparotomy confirmed an organoaxial volvulus at the level of the antrum and body of the stomach. Gastropexy was implemented and the stomach fixed to the posterior abdominal wall to prevent recurrence. DISCUSSION: GV may have a significant related morbidity and mortality rate. It can be missed easily on diagnosis. The presence of vomiting not responding to initial antiemetic treatment, as well as, the presence of a hiatal hernia on the imaging studies should trigger our thinking of gastric volvulus, regardless of the stable appearance of the patient. CONCLUSION: Chronic GV can manifests as atypical chest, abdomen and gastro intestinal symptoms. We recommend that everyone with these atypical symptoms seek medical attention to rule out GV. Early diagnosis and treatment will reduce the risk of developing chronic gastric volvulus to acute gastric volvulus.