Non‐invasive lobular neoplasia of the breast: Morphologic features, clinical presentation, and management dilemmas

2020 ◽  
Vol 26 (6) ◽  
pp. 1148-1155
Author(s):  
Catarina Calle ◽  
Maria Gabriela Kuba ◽  
Edi Brogi
Keyword(s):  
Clinical Presentation ◽  
Lobular Neoplasia ◽  
Non Invasive

scholarly journals Clinical presentation and non-invasive diagnosis of right heart masses.

Heart ◽  
1981 ◽  
Vol 46 (5) ◽  
pp. 552-558 ◽  
Author(s):  
M J Stern ◽  
M V Cohen ◽  
B Fish ◽  
R Rosenthal
Keyword(s):  
Clinical Presentation ◽  
Right Heart ◽  
Non Invasive

Titinopathy, an atypical respiratory failure

2020 ◽  
Vol 13 (9) ◽  
pp. e235378
Author(s):  
Joana Morais ◽  
Ana Andrade Oliveira ◽  
Olga Pires ◽  
Inês Burmester ◽  
Maria João Regadas ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Clinical Presentation ◽  
Heterozygous Mutation ◽  
Rimmed Vacuoles ◽  
Non Invasive ◽  
Disease Modifying Therapy ◽  
Distal Muscle ◽  
Non Invasive Ventilation ◽  
Hereditary Myopathy ◽  
Autosomal Dominant Inheritance Pattern

Hereditary myopathy with early respiratory failure is a neuromuscular disease with an autosomal dominant inheritance pattern. Clinical presentation is characterised by proximal and distal muscle weakness, exertional dyspnoea and generalised fatigue. There is no disease-modifying therapy and the prognosis is unknown. Herein we present a case of a 40-year-old woman with long-standing asthenia and apathy and, more recently, daytime sleepiness, dyspnoea and difficulty in walking. A hypercapnic respiratory failure with severe acidemia was identified. The muscle biopsy showed the presence of cytoplasmatic bodies and rimmed vacuoles, suggestive of a hereditary myopathy with early respiratory failure disease. The genetic study confirmed this diagnosis identifying a heterozygous mutation on c.95134T>C (p.Cys31712Arg) in exon 343 in the titin gene. The patient was discharged home under supportive treatment with non-invasive ventilation.

P4657Cardiac myxomas: are we dealing with distinct clinical entities?

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
G Sa Mendes ◽  
J Abecasis ◽  
A Ferreira ◽  
R Ribeiras ◽  
C Reis ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Significant Proportion ◽  
Case Series ◽  
Surgical Excision ◽  
Non Invasive ◽  
Cardiac Tumours ◽  
Asymptomatic Patients ◽  
Grade 5 ◽  
Cardiac Myxomas

Abstract Background Cardiac myxomas are rare, despite being the most common primary cardiac tumours. A significant number of myxomas are discovered accidentally in asymptomatic patients (pts), as there is increased use of non-invasive cardiac imaging. Our aim was to describe the experience of a cardiac surgery centre managing cardiac myxomas during the last 28 years. Methods Single-center retrospective study of consecutive pts admitted with the diagnosis of a cardiac myxomas between 1990 and 2018. Registry data concerning clinical presentation, non-invasive imaging assessment and definitive histopathology were collected. Results From 154 pts with the diagnosis of cardiac tumours, we identified 106 (68.8%) myxomas (67% females; mean age at diagnosis 61,5±13,1 years). Myxoma diagnosis increased throughout the 3 decades (27 cases until 2000; 26 cases in the second decade; 52 cases from 2010 until present). 30% of the pts were asymptomatic at diagnosis. Obstructive symptoms (heart failure and syncope) and embolic events were the most common complaints among symptomatic pts. Transthoracic echocardiography firstly identified the tumours in 88% of the cases. Cardiac magnetic resonance and computed tomography were performed for further investigation in 7% of the cases. Presumptive pre-operative diagnosis was correct in 83.8% pts. Surgical excision was successfully achieved in all cases. 89% of the tumours were located in the left atrium with inter-atrial septum implantation (13 in right chambers; 1 valvular tumour). There were 10 multifocal tumours. At histopathology myxomas were grossly described as mucous jelly appearance (80%), solid (15%) and mixed type lesions (5%). Rare histologic findings were described in 30% of the cases (8 tumours with bone tissue; 1 with forming bone marrow; 4 with endocrine type glandular epithelium; 16 with lympho-plasmocytic infiltrates; 3 with high mitotic grade; 5 with concomitant thrombus). For a median follow up of 86 [31–214] months there were 15 deaths (2 of them with tumour related deaths). There were 3 recurrences (2 with high mitotic grade histology), mostly occurring 3 years after the first intervention. Conclusion In this case series cardiac myxomas are the most common cardiac tumours, with a significant proportion of asymptomatic lesions. Clinical heterogeneity followed polymorphic histology, with recognized differences when compared to classical descriptions of this kind of tumour.

scholarly journals Acute pulmonary embolism: Tell tale signs

2021 ◽  
Vol 2 (6) ◽  
Author(s):  
Mayank Yadav ◽  
Keyword(s):  
Pulmonary Embolism ◽  
Acute Pulmonary Embolism ◽  
Clinical Presentation ◽  
Wide Spectrum ◽  
Pulmonary Angiography ◽  
Ct Pulmonary Angiography ◽  
Detailed History ◽  
Non Invasive ◽  
Asymptomatic Stage ◽  
High Degree

Acute Pulmonary embolism is one of the major preventable causes of in hospital mortality. It is commonly seen in ICU setting in chronic bed ridden patients [1]. It has wide spectrum of clinical presentation ranging from asymptomatic stage to severe hemodynamic decompensation so diagnosis requires high degree of suspicion. In majority of cases detailed history and physical examination along with ECG and 2D transthoracic echocardiography is enough the diagnosis. CT pulmonary angiography is done to confirm the diagnosis or when diagnosis is not possible by other non-invasive tests. A 45-year-old army person presented to ER with breathlessness for 3 days. There was no complaint of chest pain, giddiness, palpitation, swelling or pain of legs. Patient does not have any other comorbidities.

scholarly journals Klippel Trenaunay Syndrome: A Brief Overview

2021 ◽  
Vol 5 (5) ◽  
pp. 454-461
Author(s):  
Pande Ayu Naya Kasih Permatananda ◽  
I Gusti Agung Made Adnyana Putra
Keyword(s):  
Soft Tissue ◽  
Somatic Mutations ◽  
Clinical Presentation ◽  
Invasive Procedure ◽  
Severe Bleeding ◽  
Port Wine ◽  
Non Invasive ◽  
Weber Syndrome ◽  
Vasculogenesis And Angiogenesis ◽  
Klippel Trenaunay Syndrome

Klippel-Trenaunay syndrome is a rare congenital vascular disease. The pathogenesis of this syndrome is unclear, but it is thought that most cases are the result of somatic mutations that affect genes that play a role in vasculogenesis and angiogenesis. Some patients come with a triad of capillary malformation (hemangioma or port-wine stain), venous varicosities and bony or soft tissue hypertrophy. Clinical presentation of this syndrome can lead to significant morbidities and mortalities due to severe bleeding and emboli. Although the number of cases is low, a doctor must be able to distinguish Klippel-Trenaunay Syndrome from other rare vascular disorders. Parkes Weber syndrome is usually similar to Klippel-Trenaunay syndrome, except in the arterial malformations associated with capillary malformations and soft tissue to skeletal or bone hypertrophy. The diagnosis of Klippel-Trenaunay Syndrome is carried out clinically and is quite difficult to do even with experienced doctors because there is no precise pathognomonic test.  There are several options in relation to the management of Klippel-Trenaunay Syndrome and non-invasive procedure is considered to be the most important of therapy modalities. Early diagnoses, progression monitoring, and proper intervention should be carried out for better prognosis and preventing complication.

scholarly journals Klippel Trenaunay Syndrome: A Brief Overview

2021 ◽  
Vol 5 (2) ◽  
pp. 387-394
Author(s):  
Pande Ayu Naya Kasih Permatananda ◽  
I Gusti Agung Made Adnyana Putra
Keyword(s):  
Soft Tissue ◽  
Vascular Disease ◽  
Clinical Presentation ◽  
Invasive Procedure ◽  
Port Wine Stain ◽  
Port Wine ◽  
Vascular Disorders ◽  
Non Invasive ◽  
Vasculogenesis And Angiogenesis ◽  
Klippel Trenaunay Syndrome

A B S T R A C TKlippel-Trenaunay syndrome is a rare congenital vascular disease. The pathogenesisof this syndrome is unclear, but it is thought that most cases are the result of somaticmutations that affect genes that play a role in vasculogenesis and angiogenesis. Somepatients come with a triad of capillary malformation (hemangioma or port-wine stain),venous varicosities and bony or soft tissue hypertrophy. Clinical presentation of thissyndrome can lead to significant morbidities and mortalities due to severe bleedingand emboli. Although the number of cases is low, a doctor must be able to distinguishKlippel-Trenaunay Syndrome from other rare vascular disorders. Parkes Webersyndrome is usually similar to Klippel-Trenaunay syndrome, except in the arterialmalformations associated with capillary malformations and soft tissue to skeletal orbone hypertrophy. The diagnosis of Klippel-Trenaunay Syndrome is carried outclinically and is quite difficult to do even with experienced doctors because there is noprecise pathognomonic test. There are several options in relation to the managementof Klippel-Trenaunay Syndrome and non-invasive procedure is considered to be themost important of therapy modalities. Early diagnoses, progression monitoring, andproper intervention should be carried out for better prognosis and preventingcomplication.

A seven-year retrospective analysis of the clinicopathological and mycological manifestations of fungal rhinosinusitis in a single-centre tropical climate hospital

2017 ◽  
Vol 131 (9) ◽  
pp. 813-816 ◽  
Author(s):  
L C Goh ◽  
E D Shakri ◽  
H Y Ong ◽  
S Mustakim ◽  
M M Shaariyah ◽  
...  
Keyword(s):  
Nasal Polyposis ◽  
Clinical Presentation ◽  
Clinical Signs ◽  
Tropical Climate ◽  
Symptom Duration ◽  
Equal Distribution ◽  
Non Invasive ◽  
Ocular Symptoms ◽  
Fungal Rhinosinusitis ◽  
Invasive Fungal Rhinosinusitis

AbstractObjective:To evaluate the clinicopathological and mycological manifestations of fungal rhinosinusitis occurring in the Tengku Ampuan Rahimah Hospital, in Klang, Malaysia, which has a tropical climate.Methods:Records of patients treated from 2009 to 2016 were analysed retrospectively. Data from the records were indexed based on age, gender, clinical presentations, symptom duration, clinical signs and mycological growth.Results:Of 80 samples, 27 (33.75 per cent) had fungal growth. Sixteen patients were classified as having non-invasive fungal rhinosinusitis and 11 as having invasive fungal rhinosinusitis. The commonest clinical presentation was nasal polyposis in non-invasive fungal rhinosinusitis patients (p < 0.05) and ocular symptoms in invasive fungal rhinosinusitis patients (p < 0.05). The commonest organism was aspergillus sp. (p < 0.05) in non-invasive fungal rhinosinusitis and mucorales in invasive fungal rhinosinusitis.Conclusion:There is an almost equal distribution of both invasive and non-invasive fungal rhinosinusitis, as seen in some Asian countries. Invasive fungal rhinosinusitis, while slightly uncommon when compared to non-invasive fungal rhinosinusitis, is potentially life threatening, and may require early and extensive surgical debridement. The clinical presentation of nasal polyposis was often associated with non-invasive fungal rhinosinusitis, whereas ocular symptoms were more likely to be associated with invasive fungal rhinosinusitis.

Atrial shunts: presentation, investigation, and management, including recent advances in magnetic resonance imaging

2014 ◽  
Vol 24 (3) ◽  
pp. 403-416 ◽  
Author(s):  
Cheryl G. Zvaigzne ◽  
Andrew G. Howarth ◽  
David J. Patton
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Clinical Presentation ◽  
Common Finding ◽  
Resonance Imaging ◽  
Advanced Imaging ◽  
Non Invasive ◽  
Recent Developments ◽  
Adults And Children ◽  
Invasive Evaluation

AbstractAtrial shunts are a common finding in both paediatric and adult populations. Recent developments in advanced imaging have widened the options for diagnosis and evaluation of such shunts. This paper reviews the various types of interatrial communications, discusses the features of clinical presentation in adults and children, and provides an overview of the clinical assessment including physical examination, electrocardiography, echocardiography, cardiac catheterisation, computed tomography, and magnetic resonance imaging. Focus will be placed on recent developments in magnetic resonance imaging that may improve the non-invasive evaluation of atrial shunts.

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