scholarly journals Vascular and Lymphatic Malformations: Perspectives From Human and Vertebrate Studies

2021 ◽  
Vol 129 (1) ◽  
pp. 131-135
Author(s):  
Harish P. Janardhan ◽  
Sherin Saheera ◽  
Roy Jung ◽  
Chinmay M. Trivedi
Keyword(s):  
State Of The Art ◽  
Vascular Malformations ◽  
Signs And Symptoms ◽  
Clinical Genetic ◽  
Lymphatic Malformations ◽  
Congenital Diseases ◽  
Developmental Patterning ◽  
Life Threatening ◽  
Recurrent Patterns ◽  
Functional Defects

Vascular malformations, affecting ≈1% to 1.5% of the population, comprise a spectrum of developmental patterning defects of capillaries, arteries, veins, and/or lymphatics. The majority of vascular malformations occur sporadically; however, inherited malformations exist as a part of complex congenital diseases. The malformations, ranging from birthmarks to life-threatening conditions, are present at birth, but may reveal signs and symptoms—including pain, bleeding, disfigurement, and functional defects of vital organs—in infancy, childhood, or adulthood. Vascular malformations often exhibit recurrent patterns at affected sites due to the lack of curative treatments. This review series provides a state-of-the-art assessment of vascular malformation research at basic, clinical, genetic, and translational levels.

Genetic tests in lymphatic vascular malformations and lymphedema

2018 ◽  
Vol 55 (4) ◽  
pp. 222-232 ◽  
Author(s):  
Sandro Michelini ◽  
Stefano Paolacci ◽  
Elena Manara ◽  
Costantino Eretta ◽  
Raul Mattassi ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Vascular Malformations ◽  
Phenotypic Variability ◽  
Targeted Sequencing ◽  
Diagnostic Process ◽  
Success Rates ◽  
Clinical Genetic ◽  
Genetic Tests ◽  
Lymphatic Malformations ◽  
Disease Associated Genes

Syndromes with lymphatic malformations show phenotypic variability within the same entity, clinical features that overlap between different conditions and allelic as well as locus heterogeneity. The aim of this review is to provide a comprehensive clinical genetic description of lymphatic malformations and the techniques used for their diagnosis, and to propose a flowchart for genetic testing. Literature and database searches were performed to find conditions characterised by lymphatic malformations or the predisposition to lymphedema after surgery, to identify the associated genes and to find the guidelines and genetic tests currently used for the molecular diagnosis of these disorders. This search allowed us to identify several syndromes with lymphatic malformations that are characterised by a great heterogeneity of phenotypes, alleles and loci, and a high frequency of sporadic cases, which may be associated with somatic mutations. For these disorders, we found many diagnostic tests, an absence of harmonic guidelines for molecular diagnosis and well-established clinical guidelines. Targeted sequencing is the preferred method for the molecular diagnosis of lymphatic malformations. These techniques are easy to implement and have a good diagnostic success rates. In addition, they are relatively inexpensive and permit parallel analysis of all known disease-associated genes. The targeted sequencing approach has improved the diagnostic process, giving patients access to better treatment and, potentially, to therapy personalised to their genetic profiles. These new techniques will also facilitate the prenatal and early postnatal diagnosis of congenital lymphatic conditions and the possibility of early intervention.

CLINICAL AND FORENSIC ASPECTS OF PHARMACOBEZOARS

2020 ◽  
Vol 12 ◽  
Author(s):  
Francisco Basílio ◽  
Ricardo Jorge Dinis-Oliveira
Keyword(s):  
State Of The Art ◽  
Signs And Symptoms ◽  
Immediate Release ◽  
Diagnosis And Treatment ◽  
Blood Concentrations ◽  
Forensic Practice ◽  
Wide Range ◽  
Therapeutic Doses ◽  
Complete History ◽  
Lethal Blood

Background: Pharmacobezoars are specific types of bezoars formed when medicines, such as tablets, suspensions, and/or drug delivery systems, aggregate and may cause death by occluding airways with tenacious material or by eluting drugs resulting in toxic or lethal blood concentrations. Objective: This work aims to fully review the state-of-the-art regarding pathophysiology, diagnosis, treatment and other relevant clinical and forensic features of pharmacobezoars. Results: patients of a wide range of ages and in both sexes present with signs and symptoms of intoxications or more commonly gastrointestinal obstructions. The exact mechanisms of pharmacobezoar formation are unknown but is likely multifactorial. The diagnosis and treatment depend on the gastrointestinal segment affected and should be personalized to the medication and the underlying factor. A good and complete history, physical examination, image tests, upper endoscopy and surgery through laparotomy of the lower tract are useful for diagnosis and treatment. Conclusion: Pharmacobezoars are rarely seen in clinical and forensic practice. They are related to controlled or immediate-release formulations, liquid or non-digestible substances, in normal or altered digestive motility/anatomy tract, and in overdoses or therapeutic doses, and should be suspected in the presence of risk factors or patients taking drugs which may form pharmacobezoars.

Ultrasound diagnosis of dissecting thoracic aortic aneurysms: procedure with a handheld device and a video-illustrated case

2021 ◽  
Vol 51 (1) ◽  
pp. 10-15
Author(s):  
Kenneth V Iserson ◽  
Sri Devi Jagjit ◽  
Balram Doodnauth
Keyword(s):  
Aortic Dissection ◽  
Correct Diagnosis ◽  
Signs And Symptoms ◽  
Aortic Aneurysms ◽  
Thoracic Aortic Aneurysms ◽  
Handheld Device ◽  
Thoracic Aortic Dissection ◽  
Threatening Condition ◽  
Life Threatening ◽  
Handheld Ultrasound

Acute thoracic aortic dissection is an uncommon, although not rare, life-threatening condition. With protean signs and symptoms that often suggest more common cardiac or pulmonary conditions, it can be difficult to diagnose. Ultrasound has proven useful in making the correct diagnosis. This case demonstrates that training gained using standard ultrasound machines can be easily and successfully adapted to newer handheld ultrasound devices. The examination technique using the handheld device is illustrated with photos and a video.

scholarly journals CT angiography and MRI of hand vascular lesions: technical considerations and spectrum of imaging findings

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Alain G. Blum ◽  
Romain Gillet ◽  
Lionel Athlani ◽  
Alexandre Prestat ◽  
Stéphane Zuily ◽  
...  
Keyword(s):  
Doppler Ultrasonography ◽  
Spindle Cell ◽  
State Of The Art ◽  
Vascular Malformations ◽  
Vascular Lesions ◽  
Systemic Diseases ◽  
Contrast Enhanced ◽  
Vascular Compromise ◽  
Exposure To Trauma ◽  
Technical Considerations

AbstractVascular lesions of the hand are common and are distinct from vascular lesions elsewhere because of the terminal vascular network in this region, the frequent hand exposure to trauma and microtrauma, and the superficial location of the lesions. Vascular lesions in the hand may be secondary to local pathology, a proximal source of emboli, or systemic diseases with vascular compromise. In most cases, ischaemic conditions are investigated with Doppler ultrasonography. However, computed tomography angiography (CTA) or dynamic contrast-enhanced magnetic resonance angiography (MRA) is often necessary for treatment planning. MR imaging is frequently performed with MRA to distinguish between vascular malformations, vascular tumours, and perivascular tumours. Some vascular tumours preferentially affect the hand, such as pyogenic granulomas or spindle cell haemangiomas associated with Maffucci syndrome. Glomus tumours are the most frequent perivascular tumours of the hand. The purpose of this article is to describe the state-of-the-art acquisition protocols and illustrate the different patterns of vascular lesions and perivascular tumours of the hand.

scholarly journals Reinforcing the Immunocompromised Host Defense against Fungi: Progress beyond the Current State of the Art

2021 ◽  
Vol 7 (6) ◽  
pp. 451
Author(s):  
Georgios Karavalakis ◽  
Evangelia Yannaki ◽  
Anastasia Papadopoulou
Keyword(s):  
Host Defense ◽  
Hematopoietic Cell Transplantation ◽  
State Of The Art ◽  
Fungal Infections ◽  
Solid Organ Transplantation ◽  
Immunocompromised Host ◽  
Antifungal Drugs ◽  
Solid Organ ◽  
Cell Immunotherapy ◽  
Life Threatening

Despite the availability of a variety of antifungal drugs, opportunistic fungal infections still remain life-threatening for immunocompromised patients, such as those undergoing allogeneic hematopoietic cell transplantation or solid organ transplantation. Suboptimal efficacy, toxicity, development of resistant variants and recurrent episodes are limitations associated with current antifungal drug therapy. Adjunctive immunotherapies reinforcing the host defense against fungi and aiding in clearance of opportunistic pathogens are continuously gaining ground in this battle. Here, we review alternative approaches for the management of fungal infections going beyond the state of the art and placing an emphasis on fungus-specific T cell immunotherapy. Harnessing the power of T cells in the form of adoptive immunotherapy represents the strenuous protagonist of the current immunotherapeutic approaches towards combating invasive fungal infections. The progress that has been made over the last years in this field and remaining challenges as well, will be discussed.

scholarly journals Nutritional Optic Neuropathies: State of the Art and Emerging Evidences

Nutrients ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2653
Author(s):  
Matilde Roda ◽  
Natalie di Geronimo ◽  
Marco Pellegrini ◽  
Costantino Schiavi
Keyword(s):  
Bariatric Surgery ◽  
Optic Neuropathy ◽  
Multidisciplinary Approach ◽  
State Of The Art ◽  
Signs And Symptoms ◽  
Therapeutic Strategies ◽  
Scientific Interest ◽  
Optic Nerve Atrophy ◽  
Prompt Diagnosis

Nutritional optic neuropathy is a cause of bilateral, symmetrical, and progressive visual impairment with loss of central visual acuity and contrast sensitivity, dyschromatopsia, and a central or centrocecal scotoma. The clinical features are not pathognomonic, since hereditary and toxic forms share similar signs and symptoms. It is becoming increasingly common due to the widespread of bariatric surgery and strict vegetarian or vegan diets, so even the scientific interest has recently increased. In particular, recent studies have focused on possible pathogenetic mechanisms, and on novel diagnostic and therapeutic strategies in order to prevent the onset, make a prompt diagnosis and an accurate nutritional supplementation, and to avoid irreversible optic nerve atrophy. Nowadays, there is clear evidence of the role of cobalamin, folic acid, thiamine, and copper, whereas further studies are needed to define the role of niacin, riboflavin, and pyridoxine. This review aims to summarize the etiology, diagnosis, and treatment of nutritional optic neuropathy, and it is addressed not only to ophthalmologists, but to all physicians who could come in contact with a patient with a possible nutritional optic neuropathy, being a fundamental multidisciplinary approach.

scholarly journals Lymphatic Malformation Responsive to Sirolimus in Keratinocytic Epidermal Nevus Syndrome with KRAS Mutation: A Case and Brief Literature Discussion

2021 ◽  
pp. 195-201
Author(s):  
Emily Sideris ◽  
Er Tsing Vivian Tng ◽  
Paul Chee
Keyword(s):  
Current Literature ◽  
Kras Mutation ◽  
Rare Case ◽  
Mtor Inhibitor ◽  
Vascular Malformations ◽  
Lymphatic Malformation ◽  
Literature Discussion ◽  
Lymphatic Malformations ◽  
Epidermal Nevus ◽  
Overgrowth Syndromes

We present a rare case of KRAS keratinocytic epidermal nevus syndrome with lymphatic malformation, responsive to treatment with sirolimus, an mTOR inhibitor. A brief review of the current literature regarding sirolimus use in vascular malformations, lymphatic malformations, regional overgrowth syndromes, and RASopathies is discussed.

scholarly journals A rare case of fat embolism syndrome secondary to abdominal liposuction and gluteal fat infiltration

2020 ◽  
Vol 2020 (12) ◽  
Author(s):  
Salvador Recinos ◽  
Sabrina Barillas ◽  
Alejandra Rodas ◽  
Javier Ardebol
Keyword(s):  
Right Ventricular Dysfunction ◽  
Signs And Symptoms ◽  
Fat Embolism ◽  
Fat Infiltration ◽  
Fat Embolism Syndrome ◽  
Embolism Syndrome ◽  
Threatening Condition ◽  
Life Threatening ◽  
Bone Marrow Harvesting ◽  
Dermatologic Manifestations

Abstract Fat embolism syndrome (FES) is a rare, life-threatening condition habitually associated with traumatic events such as fractures and, less commonly, burns, liposuction and bone marrow harvesting and transplant [ 1]. The biochemical theory for this condition suggests that fat droplets embolize and convert into fatty acids, eventually leading to toxic injury and inflammation, which results in increased vascular permeability, edema and hemorrhage [ 2]. FES may have an asymptomatic interval lasting 12–72 hours after the insult; however, in some cases, signs have also been seen intraoperatively. Pulmonary signs and symptoms are customarily the earliest and manifest in 75% of patients. Nevertheless, neurologic and dermatologic manifestations are also characteristic, and most severe cases could perhaps present with disseminated intravascular coagulation, right ventricular dysfunction, shock or death. The following case consists of a 37-year-old patient that presented with fat embolism syndrome during liposuction and gluteal fat infiltration.

scholarly journals An unusual presentation of acute myocardial infarction in physiotherapy direct access: findings from a case report

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Lorenzo Storari ◽  
Valerio Barbari ◽  
Fabrizio Brindisino ◽  
Marco Testa ◽  
Maselli Filippo
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Case Report ◽  
Visceral Pain ◽  
Signs And Symptoms ◽  
Final Diagnosis ◽  
Outpatient Setting ◽  
Direct Access ◽  
Life Threatening ◽  
Medical Referral

Abstract Background Shoulder pain (SP) may originate from both musculoskeletal and visceral conditions. Physiotherapists (PT) may encounter patients with life-threatening pathologies that mimic musculoskeletal pain such as Acute Myocardial Infarction (AMI). A trained PT should be able to distinguish between signs and symptoms of musculoskeletal or visceral origin aimed at performing proper medical referral. Case presentation A 46-y-old male with acute SP lasting from a week was diagnosed with right painful musculoskeletal shoulder syndrome, in two successive examinations by the emergency department physicians. However, after having experienced a shift of the pain on the left side, the patient presented to a PT. The PT recognized the signs and symptoms of visceral pain and referred him to the general practitioner, which identified a cardiac disease. The final diagnosis was acute myocardial infarction. Conclusion This case report highlights the importance of a thorough patient screening examination, especially for patients treated in an outpatient setting, which allow distinguishing between signs and symptoms of musculoskeletal from visceral diseases.

scholarly journals Proteomic Adaptation of Clostridioides difficile to Treatment with the Antimicrobial Peptide Nisin

Cells ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 372
Author(s):  
Sandra Maaß ◽  
Jürgen Bartel ◽  
Pierre-Alexander Mücke ◽  
Rabea Schlüter ◽  
Thomas Sura ◽  
...  
Keyword(s):  
State Of The Art ◽  
Biomedical Application ◽  
Time Resolved ◽  
Antibiotic Resistant ◽  
Cellular Processes ◽  
Clostridioides Difficile ◽  
Antibiotic Associated Diarrhea ◽  
Life Threatening ◽  
Sublethal Concentrations ◽  
Interesting Alternative

Clostridioides difficile is the leading cause of antibiotic-associated diarrhea but can also result in more serious, life-threatening conditions. The incidence of C. difficile infections in hospitals is increasing, both in frequency and severity, and antibiotic-resistant C. difficile strains are advancing. Against this background antimicrobial peptides (AMPs) are an interesting alternative to classic antibiotics. Information on the effects of AMPs on C. difficile will not only enhance the knowledge for possible biomedical application but may also provide insights into mechanisms of C. difficile to adapt or counteract AMPs. This study applies state-of-the-art mass spectrometry methods to quantitatively investigate the proteomic response of C. difficile 630∆erm to sublethal concentrations of the AMP nisin allowing to follow the cellular stress adaptation in a time-resolved manner. The results do not only point at a heavy reorganization of the cellular envelope but also resulted in pronounced changes in central cellular processes such as carbohydrate metabolism. Further, the number of flagella per cell was increased during the adaptation process. The potential involvement of flagella in nisin adaptation was supported by a more resistant phenotype exhibited by a non-motile but hyper-flagellated mutant.

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