Reports, Volume 6, Issue 3 (September 2023) – 14 articles

Iatrogenic burns are unpleasant and sometimes difficult to explain to patients. Podiatric surgeons routinely use electrosurgical devices to cut and coagulate tissue during surgical procedures. Although advances in technology have made electrosurgery increasingly safer for patients and personnel, its use is still poorly understood by the surgical community, and the hazards associated with its use still exist presently. Human error, direct or indirect transfer of electricity to a conductive device, or device malfunction can cause serious adverse events, including burns, electrical shocks, and or fires. Here, we report a rare case of a 43-year-old man who suffered severe burns during hallux valgus surgery. The surgeon and the nursing staff did not notice any injuries during the surgical intervention. This unusual clinical case serves to highlight the importance of implementing protocols to prevent injuries related to the use of electrosurgery. Based on this report, a specific checklist was implemented to prevent adverse events related to electrosurgery in our podiatric surgery unit to reduce the risk of electrosurgical complications. The implementation of the checklist can be useful to help health professionals improve patient safety during surgery and avoid potential medico–legal liability claims. Full article

Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal, rare, complement-mediated hemolytic anemia. PNH can be associated with marrow failure and thrombophilia. We present a clinical report of splenic vein thrombosis in a patient with classic PNH. A 41-year-old male with classic PNH, naïve to complement inhibitor therapy, developed splenic vein thrombosis as a major adverse effect after vaccination protocol to prevent meningococcal disease. We also report anticoagulant and eculizumab treatment outcomes. In PNH patients, vaccination should be monitored to prevent major outcome events, like vaccine-induced thrombosis. Eculizumab proves effective for treating intravascular hemolysis and preventing more thrombotic events. The potential protective role of eculizumab on controlling complement activity and consequent inflammation may help the patient to not experience breakthrough hemolysis when infected with SARS-CoV-2. Extravascular hemolysis remains present, but new molecules are being studied to inhibit proximal complement and there is a good health prospective for PNH patients. Full article

Indications for cardiac implantable electronic devices (CIEDs) are increasing. Almost one-third of device-related infections are endocarditis. Transvenous lead extraction (TLE) has emerged as an effective and safe approach for treating device-related infections and complications. Multiple types of extraction tools are being used worldwide. Our goal is to evaluate the safety and effectiveness of TLE using non-powered extraction tools. The study included patients between October 2018 and July 2022 requiring TLE according to EHRA expert consensus recommendations on lead extraction. A total of 88 consecutive patients were included. Indications for TLE included device-related infections in 74% of the patients. Of those, 32% had device-related endocarditis with or without sepsis. Staphylococcus Aureus was the most frequent pathogen in patients with endocarditis and positive bacteremia, and 57% had negative bloodstream cultures. A total of 150 cardiac pacing and defibrillator leads were targeted for extraction. The mean dwell time for leads was 6.92 ± 4.4 years; 52.8% were older than 5 years, 15.8% were older than ten years, and the longest lead dwell time was 26 years. Patients’ age varied between 18 and 98, with a mean age of 66 ± 16 years. Sixty-seven percent of patients were males. Using only non-powered extraction tools, we report 93.3% complete lead removal and 99% clinical success with partial extraction. We report no procedure-related death nor major complications. Minor complication incidence was 6.8%, and all complications resolved spontaneously. The 30-day mortality rate was 3.4%. TLE using non-powered extraction tools is safe and effective even without surgical backup on site. Full article

Parathyroid carcinoma (PC) is a rare and aggressive cancer affecting the parathyroid glands, presenting diagnostic and therapeutic challenges due to its rarity and overlapping features with benign parathyroid disease. This report describes the case of a 51-year-old patient with significantly elevated serum calcium levels, leading to further investigation. Imaging studies revealed a large nodular mass in the right inferior parathyroid gland. After undergoing right inferior parathyroidectomy, pathology confirmed parathyroid carcinoma. However, the patient experienced a relapse, detected via a neck MRI. This case highlights the importance of specific clinical features, such as rapid calcium increase, elevated parathyroid hormone (PTH) levels, and a large nodular mass, in suspecting malignancy. Differential diagnosis between carcinoma and adenoma can be challenging, and immunohistochemistry aids in diagnosis. Regular follow-up with calcium and PTH monitoring is essential for detecting recurrence. This case underscores the aggressive nature of parathyroid carcinoma and the importance of early diagnosis, surgical intervention, and thorough follow-up care for improved outcomes. Full article

Background: FV Leiden is an autosomal dominant disease, representing one of the most prevalent genetic causes for hereditary thrombophilia manifested by venous thromboembolism. Methods: We report a case of a 30-year-old patient who was admitted for enrollment in phase II cardiac rehabilitation. The cardiovascular disease onset was five years ago when the patient was diagnosed with superficial vein thrombosis, for which anticoagulant treatment was recommended. However, he discontinued the prescribed treatment independently, which resulted in the development of deep vein thrombosis. A screening for risk factors associated with venous thromboembolism was conducted, leading to the identification of a heterozygous mutation of factor V Leiden. Later, the patient was hospitalized for acute coronary syndrome necessitating stent implantation. Following this procedure, the patient started a cardiac rehabilitation program, where the patient received multidisciplinary counseling. Conclusions: At the end of the cardiac rehab, significant improvements were observed in clinical and hemodynamic parameters. Consequently, the patient was advised to continue rehabilitation treatment in the outpatient setting. Also, for patients with suboptimal maintenance of the therapeutic range of INR, the use of apixaban might be considered. Furthermore, the utilization of a reduced dosage of apixaban has demonstrated its effectiveness in preventing further venous thromboembolism. Full article

Spasm of near reflex (SNR) involves intermittent spasm of one or more of the three near reflex components. Psychiatric disorders are one cause of SNR. We describe a patient with SNR diagnosed with autism spectrum disorder (ASD). A 36-year-old male with esotropia since childhood was referred due to headache and dizziness. The alternate prism cover test showed 30 prism diopters at both near and distant fixation. Four months after his first visit, he was diagnosed with ASD. Twenty-nine months after his first visit, he underwent strabismus surgery to treat concomitant esotropia. Postoperatively, the angle of strabismus improved but remained variable. Because the angle of strabismus varied, we suspected SNR; the diagnosis was performed after evaluating the patient’s microfluctuations in accommodation with Speedy-K. However, it was difficult to distinguish convergence spasm from concomitant esotropia in this patient because he has had a history of esotropia since childhood. In a patient with concomitant esotropia, if the symptoms are not exclusively due to strabismus, SNR should be suspected. Although the relationship between SNR and the pathology of ASD is unknown, it is possible that patients with ASD are more likely to develop SNR. Full article

Black esophagus or acute esophageal necrosis is characterized by circumferential black discoloration of the distal esophageal mucosa. It is a rare condition with a multifactorial pathogenesis, and its most common clinical presentation is acute upper gastrointestinal bleeding. It usually affects elderly patients with multiple comorbidities and is associated with a high mortality rate. This is a case report of a 90-year-old man with multiple comorbidities, including diabetes mellitus, atrial fibrillation with complete atrioventricular block, and a history of ischemic stroke, who presented to the emergency department for a syncopal episode followed by coffee ground emesis. Thoraco-abdominal computer tomography showed thickening of the distal esophagus and ruled out major complications such as perforation. The following esophagogastroduodenoscopy showed black circumferential necrosis of the mid and distal esophagus. Multiple irregular ulcers with black necrotic areas were also present in the bulb and second duodenal portion. During the hospitalization, the patient was treated with PPI, NPO nutrition, and broad-spectrum antibiotics with benefits. Two months later, the patient returned to the emergency department due to a new episode of hematemesis with endoscopic evidence of esophageal stricture without necrosis and recurrence of duodenal ulcers. After a few days, the patient died due to worsening of the underlying comorbidities. A black esophagus is associated with duodenal ulcers, which may recur and are possibly due to a common ischemic origin. In this case report, we explore the potential link between black esophagus and duodenal ulcers, discussing the underlying mechanisms and relevant literature supporting this association. Full article

In 1957, Arvid Carlsson discovered that dopamine, at the time believed to be nothing more than a norepinephrine precursor, was a brain neurotransmitter in and of itself. By 1963, postsynaptic dopamine blockade had become the cornerstone of psychiatric treatment as it appeared to have deciphered the “chlorpromazine enigma”, a 1950s term, denoting the action mechanism of antipsychotic drugs. The same year, Carlsson and Lindqvist launched the dopamine hypothesis of schizophrenia, ushering in the era of psychopharmacology. At present, six decades later, although watered down by three consecutive revisions, the dopamine model remains in vogue. The latest emendation of this paradigm proposes that “environmental and genetic factors” converge on the dopaminergic pathways, upregulating postsynaptic transmission. Aryl hydrocarbon receptors, expressed by the gut and blood–brain barrier, respond to a variety of endogenous and exogenous ligands, including dopamine, probably participating in interoceptive awareness, a feed-back loop, conveying intestinal barrier status to the insular cortex. The conceptualization of aryl hydrocarbon receptor as a bridge, connecting vagal terminals with the microbiome, may elucidate the aspects of schizophrenia seemingly incongruous with the dopamine hypothesis, such as increased prevalence in urban areas, distance from the equator, autoantibodies, or comorbidity with inflammatory bowel disease and human immunodeficiency 1 virus. In this review article, after a short discussion of schizophrenia outcome studies and insight, we take a closer look at the action mechanism of antipsychotic drugs, attempting to answer the question: do these agents exert their beneficial effects via both dopaminergic and nondopaminergic mechanisms? Finally, we discuss potential new therapies, including transcutaneous vagal stimulation, aryl hydrocarbon receptor ligands, and restoring the homeostasis of the gut barrier. Full article

Toxic epidermal necrolysis (TEN) is a rare life-threatening mucocutaneous reaction characterized by epidermal detachment. Treatment success relies on early diagnosis, rapid withdrawal of the causative drug and supportive care. However, clinical evidence for therapeutic management and specific treatment is insufficient and controversial. We describe the successful management of a TEN case secondary to sulfadoxine managed in our intensive care unit. The patient presented a generalized exanthema with mucocutaneous detachment affecting 45% of the body surface area, positive Nikolsky sign, perianal enanthema and conjunctival hyperemia. Treatment with intravenous immunoglobulins and corticosteroids was prescribed, as well as calcium folinate to prevent myelotoxicity of the causative drug. In this case, hemodialysis was dismissed due to the low efficiency of this technique in removing the triggering drug. Our case report confirms the efficacy of corticosteroids, IGIV, topical treatment on mucocutaneous lesions and supportive care for the management of TEN secondary to sulfadoxine. Full article

Accidental soft tissue injuries are a frequent injury. Platelet-rich plasma (PRP) is an interesting therapeutic option for wounds and skin damage. In this case report, we describe a 37-year-old man that presented to our ward of pain medicine for an accidental severe leg injury associated with skin and soft tissue loss, with severe pain and poor sensation. History revealed the use of recreational drugs without viral infections or systemic diseases. Wound debridement, wound dressings, systemic antibiotics (amoxicillin 1000 mg tid and azithromycin 500 mg od), and non-steroidal anti-inflammatory drugs (ibuprofen 600 mg bid) reduced pain but did not improve the skin and soft tissue. A fibrin membrane with concentrated growth factors was applied, yielding an improvement in the injury in 16 months without the need for skin grafting. Full article

Klippel–Trenanauy syndrome (KTS) is a rare genetic disease determined by overexpression of the phosphatidylinositol-4-5-bisphosphate 3 kinase catalytic subunit (PIK3CA) gene. The clinical presentation is characterized by venous and capillary malformations and lymphatic malformation. To date, no definitive treatment has been suggested in order to improve the clinical symptoms related to the developments of a skin wound. In this case, we describe a young man with KTS that developed a severe skin wound in the lower right limb unresponsive to the common treatment but responsive to a treatment with oxygen-ozone therapy, pulsed magnetic fields (diamagnetic treatment), and topical fixed association of cocum caprylate, oleic acid, quercetin, and 18-β glycyrrhetinic acid. This is the first case that supports a multistep approach to treat a rare and severe disease, and we hope that other studies can support our data. Full article

Obstructive sleep apnea (OSA) is well known to often improve with non-supine positioning as opposed to supine positioning. Emerging research supports a role for sleep position management in patients with central sleep apnea (CSA) as well. We report a case of de novo complex sleep apnea syndrome (CompSAS) in a 78-year-old female, who presented after a car accident due to unclear syncope. Diagnostic polysomnography (PSG) showed moderate OSA. A CompSAS developed under automatic positive airway pressure (APAP), while 4 years of downloaded data showed good adherence. No significant benefit was reported under adaptive servo ventilation (ASV) and BiPAP-ST, while a reduction in CSA in the non-supine position was noticed. Oxygen and sleep positional therapy (SPT) were considered, resulting in a significant improvement in CSA and sleep quality. Further research on the prevalence of positional CSA is needed. Full article

Background: Poor clinical outcomes in patients with severe COVID-19 occur due to many factors that require elucidation. The objective of this study was to describe the outcomes of critically ill patients with COVID-19 and identify the risk factors for mortality. Materials and Methods: The study was a single-centered cross-sectional, observational study involving COVID-19 patients admitted to the intensive care units (ICUs) of a tertiary care hospital in the Middle East and North Africa (MENA) region. The patients were admitted between 1 March and 31 December 2020. Logistic regression analysis was used to identify risk factors for mortality. Results: Of 107 patients admitted, 98 (91.6%) were ≥40 years old and 84 (78.5%) were males. The mean oxygen saturation at admission was 79.6 ± 12.6%, the duration of ICU stay was 13.0 ± 11.6 days, and 65 (60.7%) of the patients received mechanical ventilation. Major comorbidities included hypertension (57%), diabetes (56%), and chronic kidney disease (CKD) (15.5%). The overall mortality rate was 51.4%; this was higher in patients who received mechanical ventilation (60 vs. 38.1%; p = 0.03) and those with co-morbid hypertension (60.7 vs. 39.1%; p = 0.03). Risk factors for mortality were: need for mechanical ventilation agent of record adjusted Odds ratio (aOR) 4.4 (1.6–12.6), co-morbid hypertension aOR 5.8 (1.6–21.1), having CKD aOR 5.4 (1.2–25.6) and receiving renal replacement therapy aOR 4.3 (1.4–13.0). Conclusions: The use of mechanical ventilation or renal replacement therapy among critically ill COVID-19 patients could potentially predict worse outcomes. Patients with existing hypertension or CKD may carry a higher mortality risk. Full article

The chromosome 17q21.31 microduplication syndrome is a rare genetic syndrome presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction. Only ten patients have been reported in the literature until today. All patients share some specific features, including psychomotor delay, behavioral disorders, and autism spectrum disorder (ASD). Here, a new case of this syndrome is reported in an 11-year-old Caucasian child who presented the classical clinical features of the 17q21.31 microduplication syndrome in association with new clinical characteristics previously unreported. The Array-Comparative Genomic Hybridization (aCGH) revealed a partial duplication of the long arm of chromosome 17. A literature review of previously studied patients with 17q21.31 microduplication syndrome is reported. Full article