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Aim of the report: Brooke–Spiegler syndrome (BSS) is a rare autosomal dominant disease characterized by the growth of cylindromas, spiradenomas, trichoepitheliomas, or their combination. These neoplasms usually begin in the second decade and progressively increase in number and size over the years. Diagnosis necessitates consideration of family history, clinical examination, histological findings, and genetic analysis. The aim of this paper is to explore the clinical overlap between Brooke–Spiegler syndrome (BSS) and neurofibromatosis type 1 (NF1). We aim to highlight the challenges associated with their differential diagnosis and emphasize the lack of standardized diagnostic criteria and treatment approaches. Case presentation: Hereby, we introduce the case of a 28-year-old male referred for suspicion of neurofibromatosis type 1 (NF1) who initially declined the recommended surgical excision for a scalp mass. After four years, he returned with larger masses of the scalp, and underwent excision of multiple masses, revealing cylindromas, spiradenomas, and spiradenocylindromas. Family history reported similar tumors in his father, who was also diagnosed with NF1 for the presence of multiple subcutaneous lesions on the scalp. Clinical overlap led to a genetic consultation, but testing for CYLD mutations yielded no significant variations. Despite this, the strong family history and consistent findings led to a revised diagnosis of Brooke–Spiegler syndrome, correcting the initial misdiagnosis of NF1 syndrome. Conclusions: Thanks to the evolving landscape of BSS research over the past two decades, its molecular underpinnings, clinical presentation, and histopathological features are now clearer. However, a thorough family history assessment is mandatory when BSS is suspected. It is our belief that a multidisciplinary approach and cooperation between specialists are essential when dealing with BSS. By sharing this case, we hope to underscore the importance of considering BSS as a differential diagnosis, especially in cases with atypical presentations or overlapping features with other syndromes like NF1. [ABSTRACT FROM AUTHOR]

Background: Inherited metabolic disorders (IEMs) can be represented in children and adolescents by psychiatric disorders. The early diagnosis of IEMs is crucial for clinical outcome and treatment. The aim of this review is to analyze the most recurrent and specific psychiatric features related to IEMs in pediatrics, based on the onset type and psychiatric phenotypes. Methods: Following the PRISMA Statement, a systematic literature review was performed using a predefined algorithm to find suitable publications in scientific databases of interest. After removing duplicates and screening titles and abstracts, suitable papers were analyzed and screened for inclusion and exclusion criteria. Finally, the data of interest were retrieved from the remaining articles. Results: The results of this study are reported by type of symptoms onset (acute and chronic) and by possible psychiatric features related to IEMs. Psychiatric phenomenology has been grouped into five main clinical manifestations: mood and anxiety disorders; schizophrenia-spectrum disorders; catatonia; eating disorders; and self-injurious behaviors. Conclusions: The inclusion of a variety of psychiatric manifestations in children and adolescents with different IEMs is a key strength of this study, which allowed us to explore the facets of seemingly different disorders in depth, avoiding possible misdiagnoses, with the related delay of early and appropriate treatments. [ABSTRACT FROM AUTHOR]

First described in December 2019 in Wuhan (China), COVID-19 disease rapidly spread worldwide, constituting the biggest pandemic in the last 100 years. Even if SARS-CoV-2, the agent responsible for COVID-19, is mainly associated with pulmonary injury, evidence is growing that this virus can affect many organs, including the heart and vascular endothelial cells, and cause haemostasis, CNS, and kidney and gastrointestinal tract abnormalities that can impact in the disease course and prognosis. In fact, COVID-19 may affect almost all the organs. Hence, SARS-CoV-2 is essentially a systemic infection that can present a large number of clinical manifestations, and it is variable in distribution and severity, which means it is potentially life-threatening. The goal of this comprehensive review paper in the series is to give an overview of non-pulmonary involvement in COVID-19, with a special focus on underlying pathophysiological mechanisms and clinical presentation. [ABSTRACT FROM AUTHOR]

Pain in the attachment of the plantar fascia in the calcaneus represents 10% of all sports injuries, affects 10% of foot runners, and will affect around 20% of the world population. There is no effective conservative treatment for it. This paper justifies a new definition and name for this pathology, Plantar Fascia Syndrome (PFS), presents a methodology for its diagnosis, and presents the clinical and functional effectiveness of a new conservative treatment based on platelet-rich plasma (PRP). In total, 25 patients (from an initial sample of 260) diagnosed with recalcitrant PFS lasting for more than 12 months were treated with a single infiltration of 2 mL of PRP, according to a new technic proposed. The study was approved by the ethical committee for clinical research of the reference hospital. The patients were controlled after 15, 30, 90, and 180 days, reviewing on each occasion pain, thickness of the plantar fascia, and active extension of the ankle joint. A total of 15 days after infiltration, 85% of patients had no clinical signs requiring treatment. After 90 days of infiltration, no patients showed clinical signs. This improvement in the patients' condition lasted for 180 days. All patients after treatment can fully resume normal activity with no pain. [ABSTRACT FROM AUTHOR]

This review paper presents a review of the evolution of this disease throughout the centuries, describes and summarizes the pathophysiologic mechanisms, briefly discusses the mechanism of action of diuretics, presents their role in decongesting heart failure in patients, and reveals the data behind ultrafiltration in the management of acutely or chronically decompensated heart failure (ADHF), focusing on all the available data and advancements in this field. Acutely decompensated heart failure (ADHF) presents a critical clinical condition characterized by worsening symptoms and signs of heart failure, necessitating prompt intervention to alleviate congestion and improve cardiac function. Diuretics have traditionally been the mainstay for managing fluid overload in ADHF. Mounting evidence suggests that due to numerous causes, such as coexisting renal failure or chronic use of loop diuretics, an increasing rate of diuretic resistance is noticed and needs to be addressed. There has been a series of trials that combined diuretics of different categories without the expected results. Emerging evidence suggests that ultrafiltration may offer an alternative or adjunctive approach. [ABSTRACT FROM AUTHOR]

A pancreatic neuroendocrine tumor (Pan-NET) is a rare neoplasm originating in the neuroendocrine system. Carcinoid syndrome occurs in approximately 19% of patients with functional Pan-NETs, typically when liver metastases occur. In this paper, we describe the case of a patient with a low-grade non-functional Pan-NET, but with a typical clinical presentation of carcinoid syndrome. An 81-year-old male was admitted to our Department of Internal Medicine at Cannizzaro Hospital (Catania, Italy) because of the onset of abdominal pain with nausea, loose stools, and episodic flushing. Firstly, an abdominal contrast-enhanced CT scan showed a small pancreatic hyper-vascular mass; then, a gallium-68 DOTATOC integrated PET/CT revealed an elevated expression of SSTR receptors. Serum chromogranin A and urinary 5-HIAA measurements were negative. We performed an endoscopic ultrasonography (EUS) by a fine-needle biopsy (EUS-FNB), allowing the immunostaining of a small mass (0.8 cm) and the diagnosis of a low-grade (G1) non-functional Pan-NET (NF-Pan-NET). Surgery was waived, while a follow-up strategy was chosen. The early recognition of Pan-NETs, although rare, is necessary to improve the patient's survival. Although helpful to allow for immunostaining, EUS-FNB needs to be warranted in future studies comparing EUS-FNB to EUS-FNA (fine-needle aspiration), which is, to date, reported as the tool of choice to diagnose Pan-NETs. [ABSTRACT FROM AUTHOR]

Despite the progress of its management, COVID-19 maintains an ominous condition which constitutes a threat, especially for the susceptible population. The cardiac injury occurs in approximately 30% of COVID-19 infections and is associated with a worse prognosis. The clinical presentation of cardiac involvement can be COVID-19-related myocarditis. Our review aims to summarise current evidence about that complication. The research was registered at PROSPERO (CRD42022338397). We performed a systematic analysis using five different databases, including i.a. MEDLINE. Further, the backward snowballing technique was applied to identify additional papers. Inclusion criteria were: full-text articles in English presenting cases of COVID-19-related myocarditis diagnosed by the ESC criteria and patients over 18 years old. The myocarditis had to occur after the COVID-19 infection, not vaccination. Initially, 1588 papers were screened from the database search, and 1037 papers were revealed in the backward snowballing process. Eventually, 59 articles were included. Data about patients' sex, age, ethnicity, COVID-19 confirmation technique and vaccination status, reported symptoms, physical condition, laboratory and radiological findings, applied treatment and patient outcome were investigated and summarised. COVID-19-related myocarditis is associated with the risk of sudden worsening of patients' clinical status, thus, knowledge about its clinical presentation is essential for healthcare workers. [ABSTRACT FROM AUTHOR]

Fibro-stenosing Crohn's disease (CD) is a common disease presentation that leads to impaired quality of life and often requires endoscopic treatments or surgery. From a pathobiology perspective, the conventional view that intestinal fibro-stenosis is an irreversible condition has been disproved. Currently, there are no existing imaging techniques that can accurately quantify the amount of fibrosis within a stricture, and managing patients is challenging, requiring a multidisciplinary team. Novel therapies targeting different molecular components of the fibrotic pathways are increasing regarding other diseases outside the gut. However, a large gap between clinical need and the lack of anti-fibrotic agents in CD remains. This paper reviews the current state of pathobiology behind fibro-stenosing CD, provides an updated diagnostic and therapeutic approach, and finally, focuses on clinical trial endpoints and possible targets of anti-fibrotic therapies. [ABSTRACT FROM AUTHOR]

Blunt thoracic aortic injury (BTAI) is a potentially fatal condition that needs prompt recognition and expedited management. Clinical manifestations of BTAI are not straight forwarding and may be misdiagnosed. The grade of aortic injury is an important determinant of perioperative mortality and morbidity, as well as the indication of treatment, along with the presence of concomitant lesions of other involved organs. The mainstay of treatment nowadays for hemodynamically stable patients who survive the trauma scene is represented by delayed endovascular repair whenever anatomically and clinically feasible. Endovascular repair, in fact, is burdened by lower perioperative mortality and morbidity rates if compared to open surgical repair, but concerns remain about the need for long-term surveillance and radiation exposure in patients who are at a younger age than patients treated for the aneurysmal disease. The aim of the paper is to provide an update on the diagnostic modalities and strategies of treatment for patients affected by BTAI. [ABSTRACT FROM AUTHOR]

Huntington's disease (HD) is a progressive and debilitating neurodegenerative disease. There is growing evidence for non-invasive neuromodulation tools as therapeutic strategies in neurodegenerative diseases. This systematic review aims to investigate the effectiveness of noninvasive neuromodulation in HD-associated motor, cognitive, and behavioral symptoms. A comprehensive literature search was conducted in Ovid MEDLINE, Cochrane Central Register of Clinical Trials, Embase, and PsycINFO from inception to 13 July 2021. Case reports, case series, and clinical trials were included while screening/diagnostic tests involving non-invasive neuromodulation, review papers, experimental studies on animal models, other systematic reviews, and meta-analyses were excluded. We have identified 19 studies in the literature investigating the use of ECT, TMS, and tDCS in the treatment of HD. Quality assessments were performed using Joanna Briggs Institute's (JBI's) critical appraisal tools. Eighteen studies showed improvement of HD symptoms, but the results were very heterogeneous considering different intervention techniques and protocols, and domains of symptoms. The most noticeable improvement involved depression and psychosis after ECT protocols. The impact on cognitive and motor symptoms is more controversial. Further investigations are required to determine the therapeutic role of distinct neuromodulation techniques for HD-related symptoms. [ABSTRACT FROM AUTHOR]

The authors present a new paper examining the disturbances in ocular circulation and electrophysiological changes in the presence of neuro-ophthalmic manifestations in a patient with cerebral autosomal dominant arteriopathy with subcortical infracts and leucoencephalopathy (CADASIL). Symptoms reported by the patient included: transient vision loss (TVL), migraines, diplopia, bilateral peripheral visual field loss and convergence insufficiency. CADASIL was confirmed by the presence of NOTCH3 gene mutation (p.Cys212Gly), the presence of granular osmiophilic material (GOM) in cutaneous vessels in an immunohistochemistry test (IHC) and bilateral focal vasogenic lesions in the white matter of the cerebral hemisphere, with micro-focal infarct in the left external capsule on a magnetic resonance imaging test (MRI). Color Doppler imaging (CDI) confirmed decreased blood flow and increased vascular resistance in the retinal and posterior ciliary arteries, with reduced P50 wave amplitude on a pattern electroretinogram (PERG). An eye fundus examination and fluorescein angiography (FA) revealed the constriction of retinal vessels and a peripheral retinal pigment epithelium (RPE) atrophy with focal drusen. The authors suggest that the cause of TVL may be changes in the hemodynamics of the retinochoroid vessels associated with the narrowing of small vessels and the presence of druses in the retina—which is supported by a decrease in the amplitude of the P50 wave in PERG, changes in OCT correlating simultaneously with changes in MRI imaging and other neurological symptoms. [ABSTRACT FROM AUTHOR]

Jacob's disease is a rare entity consisting of the formation of a pseudojoint between an abnormal coronoid process of the mandible and the inner surface of the zygomatic bone. First described by Jacob in 1899, its diagnosis and definition have never been entirely univocal. In this paper, we present three emblematic cases and an extensive review of the literature on Jacob's disease. Given the variability observed in the presentation of the disease, we have developed a proposal for the classification, here reported. [ABSTRACT FROM AUTHOR]

Chagas cardiomyopathy (CC), caused by the protozoan Trypanosoma cruzi, is an important cause of cardiovascular morbidity and mortality in developing countries. It is estimated that 6 to 7 million people worldwide are infected, and it is predicted that it will be responsible for 200,000 deaths by 2025. The World Health Organization (WHO) considers Chagas disease (CD) as a Neglected Tropical Disease (NTD), which must be acknowledged and detected in time, as it remains a clinical and diagnostic challenge in both endemic and non-endemic regions and at different levels of care. The literature on CC was analyzed by searching different databases (Medline, Cochrane Central, EMBASE, PubMed, Google Scholar, EBSCO) from 1968 until October 2022. Multicenter and bioinformatics trials, systematic and bibliographic reviews, international guidelines, and clinical cases were included. The reference lists of the included papers were checked. No linguistic restrictions or study designs were applied. This review is intended to address the current incidence and prevalence of CD and to identify the main pathogenic mechanisms, clinical presentation, and diagnosis of CC. [ABSTRACT FROM AUTHOR]

Atherosclerosis is a multifactorial, lipoprotein-driven condition that leads to plaque formation within the arterial tree, leading to subsequent arterial stenosis and thrombosis that accounts for a large burden of cardiovascular morbidity and mortality globally. Atherosclerosis of the lower extremities is called peripheral artery disease and is a major cause of loss in mobility, amputation, and critical limb ischemia. Peripheral artery disease is a common condition with a gamut of clinical manifestations that affects an estimated 10 million people in the United States of America and 200 million people worldwide. The role of apolipoprotein B-containing lipoproteins, such as LDL and remnant lipoproteins in the development and progression of atherosclerosis, is well-established. The focus of this paper is to review existing data on lipid-lowering therapies in lower extremity atherosclerotic peripheral artery disease. [ABSTRACT FROM AUTHOR]

This document is an editorial from the Journal of Clinical Medicine, discussing the clinical consequences of COVID-19. It highlights that the respiratory system is most commonly affected by the disease, but other organs such as the neurological, gastrointestinal, and cardiac systems can also be involved. The document emphasizes the complexity of the disease and the wide range of severity it can present. It also mentions the concept of "long covid" or "post-acute COVID-19 syndrome," which refers to the persistence of mild symptoms and disorders after testing negative for the virus. The editorial includes 17 papers that investigate various factors contributing to the clinical complexity of COVID-19, including host-pathogen interactions, different clinical manifestations, and the impact on healthcare systems. It also discusses the influence of virus mutations, demographic characteristics, and lifestyle on the severity of the disease. The document highlights the challenges in clinical management, such as the difficulty in diagnosing bacterial superinfections in critically ill COVID-19 patients. It also addresses the impact of the pandemic on healthcare systems, non-COVID patients, and healthcare personnel. Lastly, the editorial mentions that several articles in the special issue focus on the post-disease and long-term effects of COVID-19, including the quality of life and the physical, psychological, and social effects of the pandemic. [Extracted from the article]

As Fernández-de-las-Peñas and colleagues note, our results also suggest that female sex might be related to a worse HRQOL perception in terms of symptoms after the acute infection, even if the disease is less severe during that phase. We read with interest the original paper by Fernández-de-las-Peñas et al. [[1]], in which they report the results of a multicentre, cross-sectional study aimed at distinguishing the symptoms of COVID-19 in men and women both at presentation and in the long term. Female Sex Is a Risk Factor Associated with Long-Term Post-COVID Related-Symptoms but Not with COVID-19 Symptoms: The LONG-COVID-EXP-CM Multicenter Study. [Extracted from the article]

Congenital fibrinogen disorders are diseases associated with a bleeding tendency; however, there are also reports of thrombotic events. Fibrinogen plays a role in the pathogenesis of thrombosis due to altered plasma concentrations or modifications to fibrinogen's structural properties, which affect clot permeability, resistance to lysis, and its stiffness. Several distinct types of genetic change and pathogenetic mechanism have been described in patients with bleeding and a thrombotic phenotype, including mutations affecting synthesis or processing in three fibrinogen genes. In this paper, we focused on familial hypofibrinogenemia, a rare inherited quantitative fibrinogen disorder characterized by decreased fibrinogen levels with a high phenotypic heterogeneity. To begin, we briefly review the basic information regarding fibrinogen's structure, its function, and the clinical consequences of low fibrinogen levels. Thereafter, we introduce 15 case reports with various gene mutations derived from the fibrinogen mutation database GFHT (French Study Group on Hemostasis and Thrombosis), which are associated with congenital hypofibrinogenemia with both bleeding and thrombosis. Predicting clinical presentations based on genotype data is difficult. Genotype–phenotype correlations would be of help to better understand the pathologic properties of this rare disease and to provide a valuable tool for the identification of patients who are not only at risk of bleeding, but also at risk of a thrombotic event. [ABSTRACT FROM AUTHOR]

Syncope is a medical condition resulting in the spontaneous transient loss of consciousness and postural tone with spontaneous recovery. The diagnosis of syncope is a challenging task, as similar types of symptoms are observed in seizures, vertigo, stroke, coma, etc. The advent of Healthcare 4.0, which facilitates the usage of artificial intelligence and big data, has been widely used for diagnosing various diseases based on past historical data. In this paper, classification-based machine learning is used to diagnose syncope based on data collected through a head-up tilt test carried out in a purely clinical setting. This work is concerned with the use of classification techniques for diagnosing neurally mediated syncope triggered by a number of neurocardiogenic or cardiac-related factors. Experimental results show the effectiveness of using classification-based machine learning techniques for an early diagnosis and proactive treatment of neurally mediated syncope. [ABSTRACT FROM AUTHOR]

Background: osteoblastoma is a bone-forming tumor accounting for about 1% of all primary bone tumors and 3% of benign bone tumors. The gold-standard treatment is surgical excision; nevertheless, minimally invasive radiological techniques such as thermoablation and, more recently, high intensity focused ultrasound are gaining more importance. The aim of the present paper is to analyze surgical indications based on our experience and on the evidences in the literature. Methods: all patients affected by osteoblastoma who underwent surgical excision in January 2009 and December 2018 were reviewed; eleven patients were enrolled in the study. The epidemiological aspects, size of the disease and site of onset, symptoms, surgery type, indications, and results are reported for every case. Results: all treatments were based on a preoperative diagnosis; pain was constant in all cases. Intralesional surgeries were performed in 9 out of 11 cases; the remaining 2 cases underwent wide resection. No early or late complications occurred after the surgical procedure. The indications for surgery were lesions very close to nerves or joints, unclear diagnosis, risk of fracture, lesion too large for radiofrequency thermoablation, or failure of minimally invasive treatments. At a medium follow-up of 88 months, no local recurrences were verified. Conclusions: osteoblastoma is a rare tumor with difficult diagnosis. Identification is based on symptoms, imaging, and histology. When possible, minimally invasive techniques is preferred for treatment but surgery is still considered the gold standard. [ABSTRACT FROM AUTHOR]

(1) Background: Uterine fibroids are the most common form of benign uterine tumors, causing heavy menstrual bleeding (HMB), pelvic pain, infertility and pressure symptoms. Almost a third of women with uterine fibroids seek treatment. The objective of this review is to understand the mechanisms linking fibroids to these symptoms and evaluate different options for their management, particularly the place of gonadotropin-releasing hormone (GnRH) antagonist. (2) Methods: We gathered the most recent and relevant papers on the main fibroid-related symptoms and medical and surgical therapy for their treatment. Those reporting use of oral GnRH antagonists were investigated in detail. (3) Results: The mechanisms explaining myoma-related HMB and infertility were reviewed, as they are essential to a deeper mechanistic understanding and oriented approach. The choice of treatment depends on the number, size, and location of fibroids, and is guided by the patient's age and desire to preserve her fertility. Economic impacts of myomas in terms of direct costs, lost workdays, and complications were found to be significant. Medical, surgical, and non-surgical strategies were analyzed in this context. Novel medical approaches with GnRH antagonist were explored and found to represent an effective new option. (4) Conclusion: The need for alternatives to surgical intervention is very real, especially for women seeking to preserve their fertility. New options now exist, with GnRH antagonists proven to treat fibroid symptoms effectively, opening the door to novel strategies for the management of myomas. [ABSTRACT FROM AUTHOR]

Levodopa remains the primary drug for controlling motor symptoms in Parkinson's disease through the whole course, but over time, complications develop in the form of dyskinesias, which gradually become more frequent and severe. These abnormal, involuntary, hyperkinetic movements are mainly characteristic of the ON phase and are triggered by excess exogenous levodopa. They may also occur during the OFF phase, or in both phases. Over the past 10 years, the issue of levodopa-induced dyskinesia has been the subject of research into both the substrate of this pathology and potential remedial strategies. The purpose of the present study was to review the results of recent research on the background and treatment of dyskinesia. To this end, databases were reviewed using a search strategy that included both relevant keywords related to the topic and appropriate filters to limit results to English language literature published since 2010. Based on the selected papers, the current state of knowledge on the morphological, functional, genetic and clinical features of levodopa-induced dyskinesia, as well as pharmacological, genetic treatment and other therapies such as deep brain stimulation, are described. [ABSTRACT FROM AUTHOR]

In every somatic disease we can find a psychological element, just as it is not uncommon for numerous physical symptoms to occur in a mental disease. Nowadays, the patient is no longer just the "owner" of the sick organ but is considered and treated as a "whole". The interpenetration of somatic manifestations with mental health problems forces patients who experience subjective suffering, including mental suffering, from current symptoms to visit specialists from different fields of medicine, and their treatment does not bring about any improvement. Cognitive behavioral psychotherapy (CBT) is one form of therapy that attempts to respond to the needs of an increasing—in recent years—number of patients who demonstrate somatic disorders of a multifaceted nature. The co-occurrence of physical and mental disorders repeatedly makes it impossible to determine which symptoms were the cause and which were the effect; hence, it is difficult to establish clear boundaries between the categories of these disorders and diseases. The therapist, to whom the patient with somatic diseases is eventually referred, may be faced with a diagnostic dilemma, the solution of which will give direction to further psychotherapeutic work. The common feature of this group of patients is a strong focus on physical ailments, while omitting or almost completely ignoring the psychological factors involved. The purpose of this paper is to present the causally diverse circumstances in which a patient with physical symptoms needs diagnosis and therapeutic support from the perspective of a cognitive behavioral approach. [ABSTRACT FROM AUTHOR]

In recent years, interest has grown in measuring executive function in schizophrenia with ecological and virtual reality (VR) tools. However, there is a lack of critical analysis comparing those tools with traditional ones. This paper aims to characterize executive dysfunction in schizophrenia by comparing ecological and virtual reality assessments with traditional tools, and to describe the neurobiological and psychopathological correlates. The analysis revealed that ecological and VR tests have higher levels of verisimilitude and similar levels of veridicality compared to traditional tools. Both negative symptoms and disorganization correlate significantly with executive dysfunction as measured by traditional tools, but their relationships with measures based on ecological and VR methods are still unclear. Although there is much research on brain correlates of executive impairments in schizophrenia with traditional tools, it is uncertain if these results will be confirmed with the use of ecological and VR tools. In the diagnosis of executive dysfunction, it is important to use a variety of neuropsychological methods—especially those with confirmed ecological validity—to properly recognize the underlying characteristics of the observed deficits and to implement effective forms of therapy. [ABSTRACT FROM AUTHOR]