Background: Interstitial lung diseases (ILDs) are a group of heterogeneous diseases characterized by inflammation and/or fibrosis of the lung interstitium, leading to a wide range of clinical manifestations and outcomes. Over the years, the literatur...
The accurate diagnosis and management of individuals with interstitial lung diseases (ILDs) poses an interesting challenge in clinical practice. A multidisciplinary team (MDT) approach is considered the gold standard. This is a single-centre retrospe...
Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic variants in the gene encoding alpha-galactosidase A (GLA). Deficiency of GLA results in the progressive accumulation of glycosphingolipids in virtually all organs, resulting in a...
Bone and soft tissue sarcomas with complex and varied clinical, imaging, and pathological characteristics cannot be diagnosed and treated by a single discipline, as each discipline has some limitations. This study aimed to explore the role of a multi...
Fabry disease (FD) is a rare cause of end-stage renal disease requiring kidney transplantation. Data on the incidence of unrecognized FD in kidney transplant recipients are scarce and probably underestimated. This study evaluated the incidence of FD...
There is a variable standard of access to quality neurodevelopmental assessment and diagnosis. People may have negative experiences, encountering lengthy waiting times, and inconsistent practices. Practitioners need guidance on standards and practice...
Idiopathic Interstitial Pneumonias (IIPs) are a heterogeneous group of the broader category of Interstitial Lung Diseases (ILDs), pathologically characterized by the distortion of lung parenchyma by interstitial inflammation and/or fibrosis. The Amer...
Cholangiocarcinoma (CCA) is a heterogenous group of malignancies originating in the biliary tree, and associated with poor prognosis. Until recently, treatment options have been limited to surgical resection, liver-directed therapies, and chemotherap...
In this work, a multi-disciplinary approach regarding diagnostic study processes is presented, using as an example the Catholicon of Kaisariani Monastery in Attica, Greece. Kaisariani Monastery is considered one of the most important Byzantine archit...
Approximately 11% to 14% of subjects with neuroendocrine neoplasms (NENs) have metastatic lesions with unknown primary origin (UPO), with the majority of UPO-NENs found in the small bowel. Herein, we assessed the available literature on UPO-NENs, foc...
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas (STS) with nerve sheath differentiation and a tendency to metastasize. Although occurring at an incidence of 0.001% in the general population, they are relatively c...
Median Arcuate Ligament Syndrome, also known as Dunbar’s syndrome, is a rare condition caused by stenosis of the celiac artery (CAS) through the fibrous arch connecting the diaphragmatic branches. It manifests as postprandial abdominal pain, na...
Women infected with toxoplasmosis during pregnancy do not present symptoms in most cases, but the consequences of the congenital infection may be severe for the unborn child. Fetal damage can range from asymptomatic to severe neurological alterations...
Background: Children with Down syndrome (DS) are at high risk for a broad spectrum of otorhinolaryngologic (ENT) disorders, including hearing impairment, obstructive sleep apnea (OSA), dysphagia, and language delay. These conditions often coexist and...
A group of experts of different specialties involved in the care of prostate cancer (PCa) patients participated in the ENFOCA2 project, promoted by the Spanish Oncology Genitourinary Group (SOGUG), with the aim to review, discuss, and summarize curre...
Background—Children with genetic disorders have multiple anatomical and physiological conditions that predispose them to obstructive sleep apnea syndrome (OSAS). They should have priority access to polysomnography (PSG) before establishing their ther...
1 November 2010
The purpose of this study was to identify and compare the results of the findings from speechlanguage pathology evaluations for orofacial function including tongue and lip rest postures, tonus, articulation and speech, voice and language, chewing, an...
Twin anemia–polycythemia sequence (TAPS) in monochorionic twin pregnancies is a potentially serious complication caused by unidirectional vascular anastomoses in the placenta, resulting in one anemic donor twin and one polycythemic recipient tw...
14 November 2022
Breast cancer is the most common malignancy in women, with a complex clinical path that involves several professionals and that requires a multidisciplinary approach. However, the effectiveness of breast cancer multidisciplinary care and the processe...
Over the last 20 years, the understanding and natural history of Rett syndrome has advanced, but to date no cure has emerged, with multidisciplinary management being symptomatic and supportive. This study provides a comprehensive review of the clinic...
Invasive fungal diseases (IFDs) often represent complicated infections in complex patient populations. The Center of Expertise in Mycology Radboudumc/CWZ (EMRC) organizes a biweekly multidisciplinary mycology meeting to discuss patients with severe f...
Obesity Hypoventilation Syndrome (OHS), also known as Pickwickian syndrome, is a complex disorder characterized by obesity (BMI > 30 kg/m2), daytime hypercapnia (PaCO2 ≥ 45 mmHg), and sleep-disordered breathing, primarily affecting individuals...
Pulmonary sarcoidosis is the most prevalent manifestation of sarcoidosis and the commonest diagnosis in clinics for ILD. Due to the lack of a simple and reliable test, making the diagnosis is often challenging. There are three criteria that must alwa...
Background: Pediatric osteoarticular tuberculosis (TB) remains a significant global health challenge, particularly in resource-limited settings, where delayed diagnosis and treatment frequently lead to severe long-term complications. Despite advancem...
Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive, and fibrotic interstitial lung disease of unknown origin with a characteristic imaging and histologic pattern called usual interstitial pneumonia (UIP). The diagnosis of IPF is a complex...
Lyme neuroborreliosis (LNB) may mimic other neurological diseases, while neurological diseases may be misdiagnosed as LNB. The aims of the study were to contribute to the knowledge regarding the epidemiology and clinical manifestations of LNB, discus...
Mycosis fungoides is the most common primary cutaneous T-cell lymphoma, characterized by skin-homing CD4+ T cells derivation, indolent course, and low-grade of malignancy. Mycosis fungoides’s classic type typically onsets with cutaneous erythem...
Background: Clinically, there is considerable heterogeneity in the presentation of transthyretin amyloidosis (ATTR), which ranges from primarily cardiac and primarily neurologic to mixed disease, among other manifestations. Because of this complex pr...
Background: The ocular involvement of neuroendocrine neoplasms (NENs) is uncommon and mainly represented by metastases from gastrointestinal and lung neuroendocrine tumors. Primary orbital NENs are even less common and their diagnostic and therapeuti...
Interstitial lung disease (ILD) is one of the common and potentially lethal manifestations of systemic autoimmune rheumatic diseases (SARDs). ILD’s prevalence, clinical patterns, imaging, and natural history are variable. Each of the representative d...
Deep neck infection is a pathology at the border of two specialties, otorhinolaryngology and maxillofacial surgery, and represents a medico-surgical emergency. In terms of its evolution, it can extend to the level of the thorax and result in mediasti...
This perspective paper presents a first-person account of life with motor neurone disease (MND). Through the lens of lived experience, it explores the complex and often prolonged diagnostic journey, shaped in part by the protective grip of denial. Th...
Despite remarkable advances in medicine, limb amputations remain a therapeutic measure that saves the lives of many patients. Given the varied etiopathogenesis, such operations are performed both as an emergency and as an elective procedure. Such int...
Lung cancer remains a leading cause of cancer-related mortality, with diagnostic delays significantly impacting patient outcomes. Despite advancements in diagnostic strategies, inefficiencies persist, particularly in geographically complex regions wi...
Retroperitoneal sarcomas (RPS) are rare cancers whose management can be challenging due to various presentation patterns, multiple organ involvement, and a high local and distant recurrence rate. Histopathology and prognostic factors analysis are ess...
Inflammatory bowel disease (IBD), encompassing Crohn’s disease (CD) and ulcerative colitis (UC), is a multifactorial disorder involving a dynamic interplay between genetic susceptibility, gut microbiota, nutrition, environmental exposures, immu...
Sudden death, especially at a young age, may be caused by an underlying genetic cause. Hereditary conditions with an increased risk of sudden death at a young age include cardiomyopathies, arrhythmia syndromes, and hereditary thoracic aortic aneurysm...
Background: Musculoskeletal injuries are frequent in handball players due to the high-impact nature of the sport. Accurate diagnosis and tailored treatment are essential for recovery. Magnetic resonance imaging (MRI) has become the gold standard for...
In recent years, neurosurgery and clinical neuroscience have undergone a profound transformation, driven by an increasingly interdisciplinary approach that integrates technological innovation, the refinement of therapeutic protocols, and novel rehabi...
In many cases, the etiopathogenesis of oral cavity diseases depends on the presence of variants in some genes. Being able to identify these variants defines the possibilities and limits of therapies. This multidisciplinary case describes several path...
Plant viral diseases result in productivity and economic losses to agriculture, necessitating accurate detection for effective control. Lab-based molecular testing is the gold standard for providing reliable and accurate diagnostics; however, these t...
Agrifood systems have been disrupted for centuries across the globe by a plethora of plant pathogens such as bacteria, viruses, and fungi [...]
Background: Evidence of the real-world management of dedifferentiated liposarcoma (DDLPS) is limited by the patient size and coding. The objective of this study is to generate consensus expert opinion on locally advanced or metastatic DDLPS diagnosis...
Background: Medication-Related Osteonecrosis of the Jaw (MRONJ) can occur as an adverse reaction to several antiresorptive medications such as bisphosphonate. It presents clinically as a necrotic exposed bone. Several factors including tooth extracti...
The European Commission on Public Health defines as rare diseases life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them...
Background/Objectives: Hodgkin lymphoma (HL) represents a rare but clinically significant complication in patients with Common Variable Immunodeficiency (CVID). Immune dysregulation, impaired viral control, and Epstein–Barr virus (EBV) infectio...
Background: While criteria for the diagnosis of nosocomial pneumonias exist, objective definitions are a challenge and there is no gold standard for diagnosis. We analyzed the impact of the implementation of a logical, consensus-based diagnostic and...
Cancer remains a significant global health concern, with increasing genetic and metabolic irregularities linked to its onset. Among various forms of cancer, skin cancer, including squamous cell carcinoma, basal cell carcinoma, and melanoma, is on the...
(1) Background: Warthin tumors account for about 20% of all benign salivary tumors, approaching 50% if we consider only the parotid gland. Wait and see is considered a reasonable option, but the diagnosis should be certain. Diagnosis can be based on...
The structural health monitoring of historic buildings represents one of the most significant challenges in contemporary structural analysis, particularly for large-scale structures with accumulated damage. Obtaining reliable diagnostics is crucial y...
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