Reports

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

Native nephrectomies in patients scheduled for a kidney transplant may represent a major challenge. The timing of the procedures as well as the magnitude of both surgical procedures require a risk mitigation strategy that may be restricted by the specific condition of the patients. We report a case of a simultaneous laparoscopic hand-assisted native nephrectomy contralateral to the site of the living donor kidney transplant. Full article

Intestinal-failure-associated liver disease (IFALD) is a common complication of prolonged parenteral nutrition (PN). Risk factors for IFALD include clinical features, as well as medical interventions, and its management was initially based on the decrease or interruption of parenteral nutrition while increasing enteral nutrition. However, the tolerance of full enteral nutrition in children with intestinal failure may require prolonged intestinal rehabilitation over a period of years. As a consequence, infants unable to wean from PN are prone to develop end-stage liver disease. We describe the case of an infant receiving long-term PN who was diagnosed with IFALD wherein we were able to reverse IFALD by switching lipid emulsions to fish oil monotherapy. A systemic review of case reports and case series on reversing IFALD using fish oil lipid emulsion follows the case description. Full article

The secondary treatment of mandibular bone fractures poses a great challenge due to the complexity of several factors, such as incorrect primary fracture repositioning, inadequate internal fixation, nonunion, necrosis, local inflammation and infection, tooth loss, and malocclusion, serving as obstacles encountered by surgical teams. The aim of this case report is to detail the planning process, surgical technique, and outcome of the secondary treatment of the post-traumatic deformation, bone exposure, and partial necrosis of the mandible. The new approach described herein incorporated 3D planning and printing procedures, employing surgical techniques such as the segmentation of the mandible with unilateral sagittal split osteotomy and the vertical osteotomy of the mandibular body. New, stable occlusion; appropriate spatial relations; and proper osteosynthesis of the mandible were achieved. The encouraging results obtained demonstrate that the described method can be incorporated in similar cases of the secondary treatment of mandibular fractures and possibly lead to shorter hospitalization and convalescence and lower the associated costs. Full article

Background: The objective of this study is to determine the relationship between publications and authors. In turn, the different areas of research on the ocular complications of myopia are also identified, and the most cited publication by citation networks is determined. Methods: The search for publications is carried out in the Web of Science database using the term “myopia OR nearsightedness AND retin* OR degenerat* OR detachment OR patholog* OR glaucoma OR cataract OR machulopathy OR “choroidal neovascularization” for the period between 1978 and December 2022. Publication analysis was performed using the Citation Network Explorer, VOSviewer and CiteSpace software. Results: A total of 9357 publications and 78,400 citation networks were found across the network, with 2021 being the year with the highest number of publications, 712. The most cited publication was “Myopia”, published in The Lancet journal in 2012 by Morgan et al. with a citation index of 1006. By using the clustering function, seven groups covering the different research areas in this field were found: axial growth of the eye; myopic maculopathy; ocular complications in patients with myopia after a surgery; glaucoma; retinal detachment; cataracts and retinopathy of prematurity. Conclusions: The citation network offers a quantitative and qualitative analysis of the main papers on ocular complications of myopia. The research on this field is multidisciplinary; however, the main topic studied is the axial growth of the eye. Full article

Idiopathic nephrotic syndrome (INS) is one of the chronic kidney diseases that occurs in childhood. Starting from a few case reports in the 1950s–1970s and up to the present, the relationship between idiopathic nephrotic syndrome (INS) and the occurrence of atopic disorders in these patients has been discussed in many medical publications. These publications show that in certain patients, mainly children and adolescents, but also in adults with INS, various clinical symptoms and laboratory indicators of an atopic allergic process may be present. This process has been shown to involve Th2 lymphocytes, to have an excessive production of interleukins (IL-4, IL-5, IL-13), and to have an increased serum level of immunoglobulin E (IgE). This leads to the development of a systemic allergic inflammatory process, of which the kidneys can also become the effector organ. The coexistence of an allergic process which may adversely affect the course of nephrotic syndrome may be confirmed by the increased serum IgE level and the hypersensitivity reaction of the patient’s body to various environmental allergens (through the presence of allergen-specific IgE /asIgE/ antibodies to food, pollen, mould, dust, or other allergens in the blood serum). High concentrations of IL-13 and other plasma mediators of this inflammation (e.g., histamine, bradykinin) structurally and functionally damage the renal filtration barrier, and in particular, the function of podocytes in the glomeruli. Podocyte dysfunction disturbs the physiological process of plasma filtration in the glomeruli, leading to excessive protein loss in the urine. These disorders initiate the development of idiopathic nephrotic syndrome in these patients. This publication presents the coexistence of an allergic process caused by allergy to cow’s milk proteins and hypersensitivity to other allergens in a child with idiopathic nephrotic syndrome. This publication also assesses whether treatment of the allergic process coexisting with INS with an elimination diet (milk-free, hypoallergenic) and anti-allergic drugs affected the course and treatment of INS in this child. Full article

The ingestion of foreign bodies is a common cause for presentation in the emergency department by pediatric, adult, or elderly psychiatric patients. Swallowed foreign bodies sometimes represent a great challenge for surgeons due to the obstruction or perforation of the digestive tube’s upper or lower segments. Occasionally, the foreign bodies detected in the lower parts of the digestive tube (colon and rectum) could be introduced through the anal route with the risk of perforation of the rectum or sigmoid colon. In this report, we describe a unique case of a foreign body located in the sigmoid colon, where it arrived due to backstabbing and was retained for 7 years without acute symptoms. The 43-year-old male patient came to the emergency department with pain in the left iliac fossa. Before his presentation, a computerized tomography (CT) scan examination had suggested a foreign body. A surgical approach was decided. The surgery started as an exploratory laparoscopy and was converted to a xiphoid-pubic incision to extract the foreign body (a piece of glass about 8 cm long) through a sigmoid colotomy followed by a double-layer sigmoidorrhaphy. The postoperative evolution of the patient was uneventful. As far as we know, this is the first case of a patient with a foreign glass body positioned in the sigmoid colon that got there by stabbing and not by ingestion or introduced per anum. In conclusion, we suggest that aggressive behavior and abdominal wall penetration by different sharp objects should be considered when foreign bodies are detected in the abdomen. Full article

The implementation of next-generation sequencing (NGS) in clinical oncology has enabled the analysis of multiple cancer-associated genes for diagnostics and treatment purposes. The detection of pathogenic and likely pathogenic mutations is crucial to manage the disease. Obtaining the mutational profile may be challenging in samples with low yields of DNA—reflected by the type of biological material, such as formalin-fixed paraffin-embedded tissue (FFPE), needle biopsies, and circulating free/tumor DNA, as well as a sparse tumor content. Moreover, standardized strict procedures for the extraction of DNA in a clinical setting might contribute to lower amounts of DNA per µL. The detection of variants in low-yield DNA samples remains a challenge in clinical diagnostics, where molecular analyses such as NGS are needed. Here, we performed vacuum centrifugation on DNA extracted from five FFPE tissue blocks, with concentrations below 0.2 ng/µL. Through NGS analysis, we found that low-yield DNA samples could be concentrated to sufficient levels, without compromising the mutational profile. Full article

Glioblastoma is the most aggressive malignant tumor overall and remains an incurable neoplasm with a median survival of 15 months. Since 2005, the gold standard treatment for glioblastoma has remained unchanged, and it is a common goal of the scientific community to work towards a better prognosis and improved survival for glioblastoma patients. Herein, we report a case of glioblastoma multiforme in a patient with a poor prognosis who, following partial removal of the neoplasm, refused conventional therapy consisting of a combination of radiotherapy and temozolomide-based chemotherapy due to personal serious side effects. The patient started an unconventional therapeutic path by alternating periods of oxygen–ozone therapy with concomitant administration of legal medical cannabis products (Bedrocan and Bedrolite) and melatonin. This approach resulted in a complete and durable remission of the disease and long survival. Indeed, the patient is still alive. The exceptional result obtained here encourages us to share and carefully investigate this unconventional treatment as a possible future direction in the management of glioblastoma. Full article

The aim of the current study is to examine the effect of epilepsy recovery on personality traits by analyzing data from a large representative cohort from the United Kingdom. This study used data from Understanding Society: the UK Household Longitudinal Study (UKHLS). A predictive normative modelling approach along with one-sample t-tests were used to analyze the personality trait differences between 190 current epilepsy patients (40% male) with a mean age of 43.95 ± 15.68 years and 102 previous epilepsy patients (45.1% male) with a mean age of 47.50 ± 15.27 years. People who recovered from epilepsy had lower Neuroticism but higher Openness, Conscientiousness, and Extraversion scores than people who did not recover from epilepsy after controlling for demographic covariates, which can be potentially explained by the psychophysiological pathways. Health professionals can make better post-discharge plans based on personality traits as a result of epilepsy recovery. Full article

In all regions of the world, musculoskeletal disorders are a significant contributor to the burden of chronic illnesses. The effectiveness of treatments, such as rehabilitation, may vary intersectionally across demographic and other categories. The present study examines this intersectionality with respect to a lack of improvement in health conditions after rehabilitation of patients in Germany. Routine data from 298,617 patients aged 18–65 years residing in Germany who received rehabilitation because of arthropathies, dorsopathies, or soft tissue disorders during 2006–2016 were included in the analysis. Odds of the outcome were compared across demographic groups and across diagnostic sub-groups by means of multivariable logistic regression. Interaction terms were included to examine intersectional differences across these groups and over time. Women were more likely than men to have an impairment despite treatment (adjusted odds ratio [aOR] = 1.11; 95%-CI = 1.08, 1.13). In addition, patients in semi-skilled/unskilled employment were at higher odds of a poor outcome compared to patients in skilled positions (aOR = 1.13; 95%-CI = 1.10–1.17). Nationality also affected health care outcomes, with Turkish nationals and nationals from a Yugoslav successor state having higher odds of a poor outcome than Germans (aOR = 1.56; 95%-CI = 1.45–1.67 and aOR = 1.52; 95%-CI = 1.41–1.65, respectively). The findings highlight the importance of an intersectional perspective in health research and practice and can support the development of strategies and measures that aim to reduce disparities in health care. Full article

A 75-year-old female with a history of stomach cancer and depression was referred to our hospital for left cervical lymphadenopathy. The biopsy of her left cervical lymph node revealed noncaseating granulomas with multinucleated giant cells. The positron emission tomography/computed tomography (PET/CT) indicated general lymphadenopathy (left supraclavicular left axillary, hepatic lymph nodes), except for the hilar lymph node. Both histology by transbronchial lung biopsy (TBLB) and analysis of broncho alveolar lavage fluid (BALF) were indicative of sarcoidosis. C-reactive protein (CRP) and soluble interleukin-2 receptor (sIL-2R) were increased in the sera. An alternative cause of granulomatous disease was ruled out, and on follow-up, she was diagnosed with sarcoidosis. Two years later, she was hospitalized for fever, anorexia, lymph node tenderness, and erythema nodosum with significant increases in CRP and sIL-2R. After admission, the repetitive axillary lymph biopsy showed the same histological findings as before, but the G-band staining showed clonal abnormalities. Bone marrow biopsy revealed abnormal lymphocytes with petal-like nuclei. Finally, she was diagnosed with malignant lymphoma infiltrating the bone marrow. After CHOP-based chemotherapy, her laboratory data, lymphadenopathy, and clinical findings improved, and she was discharged from the hospital on the 90th day. Careful medical treatment, including genetic analysis of the lymph node, is necessary in patients with sarcoidosis if lymphadenopathy is predominant. Full article