scholarly journals When to Suspect a Diagnosis of Amyloidosis

2020 ◽  
Vol 143 (4) ◽  
pp. 304-311 ◽  
Author(s):  
Iuliana Vaxman ◽  
Morie Gertz
Keyword(s):  
Early Diagnosis ◽  
Cardiac Amyloidosis ◽  
Clinical Manifestations ◽  
Signs And Symptoms ◽  
Clinical Suspicion ◽  
Al Amyloidosis ◽  
Urine Albumin ◽  
Routine Assessment ◽  
Etiological Heterogeneity

Amyloidosis is a group of complex diseases caused by extracellular deposition of pathological insoluble fibrillary protein in organs and tissues and may result in severe organ dysfunction. Despite the etiological heterogeneity of systemic amyloidosis, the clinical manifestations of the different forms of amyloidosis largely overlap and depend upon the effected organ. The signs and symptoms that should raise suspicion for the potential diagnosis of amyloidosis are usually nonspecific; therefore, establishing the diagnosis is difficult, and early diagnosis requires clinical suspicion. Light chain (AL) amyloidosis may present with highly specific signs such as macroglossia and periorbital purpura, but these signs are insensitive. Amyloidosis is still underdiagnosed, even though treatments are now available and are effective in improving patient’s survival and quality of life. Cardiac amyloidosis is the major determinant of survival, and the earlier it is detected the better the survival. All MGUS patients should be routinely screened for AL amyloidosis by a focused history and physical examination and routine assessment of urine albumin. The aim of this review is to provide clinicians with knowledge about the signs and symptoms that raise the suspicion of amyloidosis, bearing in mind the importance of early diagnosis of this disease.

scholarly journals Clinical manifestations of chronic subdural hematoma in the elderly: Literature Review

2021 ◽  
Author(s):  
Gabriela Ferreira Kalkmann ◽  
Carlos Umberto Pereira ◽  
Francisco de Assis Pereira ◽  
Débora Moura da Paixão Oliveira ◽  
Nicollas Nunes Rabelo
Keyword(s):  
Early Diagnosis ◽  
Literature Review ◽  
Subdural Hematoma ◽  
Elderly Population ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Chronic Subdural Hematoma ◽  
Signs And Symptoms ◽  
The Elderly ◽  
Study Results

Introduction: The clinical manifestations of chronic subdural hematoma (CSDH) are often confused with other medical entities in the elderly, making their early diagnosis difficult or difficult. Early diagnosis is important, since its prognosis is directly associated with the preoperative neurological state, thus resulting in a worse vital and functional prognosis. Objectives: Report through a literature review the clinical manifestations of CSDH in the elderly population. Methods: Literature review, with the search terms: “Signs and Symptoms”, “Chronic Subdural Hematoma”, Aged, Diagnosis and Prognosis. In which PubMed, Lilacs, Scielo, Cochrane and TripDataBase data platforms were used. The inclusion criteria were: original studies published in any language. Articles in which full reading was prevented were excluded. With the application of the inclusion and exclusion criteria, 110 articles were included in the study. Results: Clinical presentation depends on the location, volume of the hematoma, rapid growth, the location of the CSDH, whether unilateral or bilateral, and the clinical conditions of the patient. Because the forms of clinical presentation of CSDH are variable, it is necessary that health professionals linked to the elderly (geriatrician, psychiatrist, general practitioner) have knowledge of this clinical entity. Conclusions: The recognition of classic forms as well as the identification of risk factors in the elderly favors the timely diagnosis and treatment of CSDH in the elderly population.

State of the problem of early diagnosis and treatment of benign ovarian tumors in postmenopausal patients (literature review)

GYNECOLOGY ◽  
2021 ◽  
Vol 23 (4) ◽  
pp. 294-299
Author(s):  
Nataliia M. Podzolkova ◽  
Roman E. Kuznetsov ◽  
Olga L. Glazkova ◽  
Larisa G. Sozaeva ◽  
Luiza B. Tumgoeva
Keyword(s):  
Quality Of Life ◽  
High Risk ◽  
Early Diagnosis ◽  
Clinical Manifestations ◽  
Ovarian Tumors ◽  
Diagnostic Methods ◽  
Comprehensive Treatment ◽  
Surgical Interventions ◽  
Benign Ovarian Tumors

As life expectancy increases, older people require strict individualization of management and treatment, taking into account all age and pathophysiological characteristics of a particular patient, a more attentive approach to the features of clinical manifestations of diseases, the presence of comorbid pathology. Timely diagnosis and comprehensive treatment of postmenopausal patients with benign ovarian tumors is a debatable issue, since none of the existing diagnostic methods of research in practice provides sensitivity and specificity equal to or at least approaching 100% of the indicator. The progressive aging of the population raises the question of whether it is necessary to operate on menopausal patients with benign ovarian tumors of small size (up to 5 cm), given the low percentage of malignancy of these formations and the high risk of deterioration in the patients quality of life after surgical interventions.

P2729NT-proBNP and high-sensitivity cardiac troponin T to diagnose cardiac amyloidosis

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
V Castiglione ◽  
A Aimo ◽  
A Barison ◽  
D Genovesi ◽  
C Prontera ◽  
...  
Keyword(s):  
Cardiac Troponin ◽  
Cardiac Amyloidosis ◽  
Troponin T ◽  
High Sensitivity ◽  
Left Ventricular ◽  
Clinical Suspicion ◽  
Al Amyloidosis ◽  
Cardiac Troponin T ◽  
Lv Mass ◽  
The Difference

Abstract Background Cardiac amyloidosis (CA) is characterized by the accumulation of misfolded proteins into amyloid fibrils, leading to cardiomyocyte toxicity, extracellular volume expansion and ventricular pseudohypertrophy. As a consequence of such processes, natriuretic peptides and cardiac troponins are chronically elevated in CA and hold significant prognostic value. The diagnostic yield of these biomarkers for CA has never been explored so far. Methods Plasma levels of N-terminal fraction of pro-B-type natriuretic peptide (NT-proBNP) and high-sensitivity cardiac troponin T (hs-cTnT) were measured in 230 patients referred to a tertiary centre with the clinical suspicion of cardiac amyloidosis. The final diagnosis was established according to current protocols, which include clinical, electrocardiographic, biohumoral, instrumental (echocardiography, cardiac magnetic resonance, diphosphonate scintigraphy), and biopsy examinations. Results Patients were aged 79 (interquartile interval 73–83) years and were predominantly males (n=147, 64%). Mean left ventricular (LV) ejection fraction was 55% (48–62%), and mean LV mass indexed was 150 (120–178) g/m2. CA was confirmed in 86 patients (37%), who had either light chain (AL) amyloidosis (n=25, 29%) or transthyretin (ATTR) amyloidosis (n=61, 71%). Alternative diagnoses were hypertensive cardiopathy (n=69, 48%), valvular disease (n=27, 19%), hypertrophic cardiomyopathy (n=18, 13%), or left ventricular hypertrophy with unknown or multifactorial mechanisms. Patients with CA showed higher NT-proBNP (5507 ng/L [2348–10326] vs. 1332 [392–3752], p<0.001) and hs-cTnT (65 ng/L [48–114] vs. 35 [21–52], p<0.001) than those without CA. The area under the curve (AUC) values for NT-proBNP and hs-cTnT were 0.712 and 0.775 respectively (p=0.062 for the difference). The combination of the two biomarkers improved discrimination over NT-proBNP alone (p=0.011), but not over hs-cTnT (p=0.470) (Figure). A NT-proBNP level <600 ng/L or a hs-cTnT level <17 ng/L were optimal for ruling out amyloidosis, with a negative predictive value of 95% in both cases. Patients with AL amyloidosis had higher NT-proBNP and hs-cTnT than those with ATTR (10809 ng/L [6292–17483] vs. 3084 [1841–7624], p=0.014; 130 ng/L [64–211] vs. 61 [48–95], p=0.006). The difference was even more prominent when biomarker levels were normalized for LV mass (NT-proBNP/LV mass, 33.9 ng/L/g [20.4–53.8] vs. 10.0 [5.8–23.5], p=0.002; hs-cTnT/LV mass, 0.48 ng/L/g [0.25–0.71] vs. 0.19 [0.14–0.26], p=0.001). NT-proBNP and hs-cTnT could effectively discriminate patients with AL amyloidosis among subjects with clinical suspicion of CA (AUC values of 0.787 and 0.805 respectively) (Figure). Figure 1 Conclusions Plasma NT-proBNP and hs-cTnT have diagnostic value in patients with suspected CA. In the subgroup with CA, both biomarkers are higher in patients with AL amyloidosis even when normalizing for LV mass, possibly because of a greater cardiotoxic effect of light-chain fibrils.

scholarly journals An Unusual Early Oral Presentation of Acromegaly: A Case Report

2021 ◽  
Vol 16 (2) ◽  
pp. 253-258
Author(s):  
Ayat Gamal-AbdelNaser
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Oral Cavity ◽  
Male Patient ◽  
Progressive Disease ◽  
Alveolar Bone ◽  
Signs And Symptoms ◽  
Pituitary Tumour ◽  
Clinical Suspicion ◽  
Early Sign

Acromegaly is a devastating chronic slowly progressive disease. Its early diagnosis is a challenging issue that necessitates clinical suspicion of signs and symptoms as a first step. This report introduces an unusual early sign in the oral cavity that lead to the early diagnosis of an acromegaly case. A case of a healthy 40-year-old male patient presented with progressively growing multiple hard swellings in the upper and lower jaws. Clinical examination revealed bony hard multiple small spiky exostosis-like swellings, located at the maxillary and mandibular alveolar bones. An array of investigations revealed a 2-mm diameter pituitary tumour in MRI of sella. To the best of the author’s knowledge, this is the first report of spiky exostosis-like growths in the alveolar bone as an early sign of acromegaly. In this case, thorough examination of oral signs and symptoms was the first step for early diagnosis and hence, better prognosis for acromegaly.

scholarly journals Ocular Manifestations in Patients with Philadelphia-Negative Myeloproliferative Neoplasms

Cancers ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 573 ◽  
Author(s):  
Charlotte Liisborg ◽  
Hans Carl Hasselbalch ◽  
Torben Lykke Sørensen
Keyword(s):  
Early Diagnosis ◽  
Current Literature ◽  
Myeloproliferative Neoplasms ◽  
Clinical Manifestations ◽  
Signs And Symptoms ◽  
Newly Diagnosed ◽  
Leukemic Transformation ◽  
Ocular Manifestations ◽  
Ocular Symptoms ◽  
Timely Treatment

The major complications of Philadelphia-negative (Ph-Negative) myeloproliferative neoplasms (MPNs) are thrombosis, haemorrhage and leukemic transformation. As systemic and haematological diseases, MPNs have the potential to affect many tissues and organs. Some complications lead to the diagnosis of MPNs, but other signs and symptoms are often misdiagnosed or neglected as a sign of MPN disease. Therefore, we reviewed the current literature to investigate and delineate the clinical manifestations seen in the eyes of Ph-negative MPN patients. We found that ocular manifestations are common among patients with MPNs. The most frequently described manifestations are due to the consequences of haematological abnormalities causing microvascular disturbances and hyperviscosity. More serious and vision-threatening complications as thrombotic events in the eyes have been repeatedly reported as well. These ocular symptoms may precede more serious extraocular complications. Accordingly, combined ophthalmological and haematological management have the potential to discover these diseases earlier and prevent morbidity and mortality in these patients. Furthermore, routine ophthalmological screening of all newly diagnosed MPN patients may be a preventive approach for early diagnosis and timely treatment of the ocular manifestations.

scholarly journals Bilateral sacroiliitis: a rare cause for a common presentation

2018 ◽  
Vol 6 (12) ◽  
pp. 4119
Author(s):  
Subodh Kumar Mahto ◽  
Praveen Kumar Singh ◽  
Ankita Sheoran ◽  
Afroz Jamal ◽  
Nagina Agarwal
Keyword(s):  
Infectious Disease ◽  
Clinical Manifestations ◽  
Signs And Symptoms ◽  
Axial Skeleton ◽  
Clinical Suspicion ◽  
Musculoskeletal Complaints ◽  
Common Presentation ◽  
Lethal Complications ◽  
High Degree ◽  
Bone Sarcoidosis

Fever and osteoarticular involvement of axial skeleton are hallmark clinical manifestations of brucellosis but other diseases like ankylosing spondylitis, tuberculosis, Paget’s disease of bone, sarcoidosis should also be considered as differential diagnosis. Brucellosis is an uncommon infectious disease in India. Signs and symptoms of the disease are highly variable, with musculoskeletal complaints occurring frequently. Authors hereby reported a case of brucellosis presenting with fever, polyathralgia, bilateral sacroiliitis and enthesitis. Knowledge of geographical distribution, evidence of exposure to the cattle and a high degree of clinical suspicion of brucellosis are very important for early differentiation from other diseases to prevent lethal complications and institute early treatment and a prompt recovery.

A Study on Frozen Shoulder and its clinical management through Nasaapana and Nasya

2016 ◽  
Vol 1 (1) ◽  
Author(s):  
Praveenkumar H. Bagali ◽  
A. S. Prashanth
Keyword(s):  
Medical Science ◽  
Frozen Shoulder ◽  
Signs And Symptoms ◽  
Treatment Modalities ◽  
Animal Kingdom ◽  
Shoulder Joints ◽  
Group A ◽  
Group B

The unique position of man as a master mechanic of the animal kingdom is because of skilled movements of his hands and when this shoulder joints get obstructed, we call it as Apabahuka (Frozen shoulder), we do not find satisfactory management in modern medical science. Various effective treatment modalities have been mentioned which reverse the pathogenesis, Shodhana is advised initially followed by Shamana therapies. In the present study 30 patients were selected incidentally and placed randomly into two groups A and B, with 15 subjects in each group. Group A received Amapachana with Panchakola Churna, Jambeera Pinda Sweda and Nasya Karma. Group B received Amapachana with Panchakola Churna, Jambeera pinda Sweda and Nasaapana. In both the groups two months follow up was done. Both groups showed significant improvement in the signs and symptoms of Apabahuka as well as the activities of daily livings, thereby improving the quality of life of the patients. Nasya Karma and Nasaapana provided highly significant results in all the symptoms of Apabahuka. In the present study as per the clinical data, Nasaapana is found to be more effective than Nasya Karma.

Apresentação e Evolução Atípicas da Granulomatose de Wegener: Relato de Caso/Atypical Presentation and Evolution of Wegener's Granulomatosis: Case Report

1970 ◽  
Vol 5 (3) ◽  
pp. 53-67
Author(s):  
Aline Dos Santos ◽  
Ana Caroline Balducci Scafi ◽  
Luciene Azevedo Morais ◽  
Pablo Girardelli Mendonça Mesquita
Keyword(s):  
Renal Failure ◽  
Renal Function ◽  
Case Report ◽  
Chronic Renal Failure ◽  
Early Diagnosis ◽  
Wegener’S Granulomatosis ◽  
Immunosuppressive Treatment ◽  
Clinical Manifestations ◽  
Wegener's Granulomatosis ◽  
Creatinine Concentration

RESUMOIntrodução: A Granulomatose de Wegener (GW) é uma vasculite rara e idiopática associada à presença do anticorpo Anticitoplasma de Neutrófilo (ANCA) que acomete, preferencialmente, os pequenos vasos. As manifestações clínicas são diversas, ocorrendo em mais de 90% dos casos, sintomas do trato respiratório. O comprometimento renal é tardio e preditor de mau prognóstico.  Sua morbidade a médio e longo prazo inclui insuficiência renal crônica. A probabilidade de sucesso de manutenção da função renal depende da concentração sérica de creatinina ao início do tratamento, o que indica a importância do diagnóstico e terapêutica adequada precoces. Casuística: Relata-se o caso de uma paciente do sexo feminino, 61 anos, portadora de GW com comprometimento renal avançado à apresentação não precedido por sintomas pulmonares esperados. O tratamento imunossupressor associado a plasmaferese permitiu a melhora da função renal da paciente poupando-a de tornar-se dialítica- dependente. Discussão: A paciente iniciou a doença através de insuficiência renal assintomática, com valores de função renal compatíveis com o estágio mais avançado de doença renal crônica, ultrassonografia dos rins sem alterações compatíveis e sem os sintomas respiratórios esperados. Segundo a literatura, a combinação de imunossupressores e plasmaferese associa-se à recuperação renal em três meses com sobrevivência sem necessidade de diálise por 12 meses, no caso relatado, obteve-se tal resultado em 22 dias sem a necessidade de diálise após um ano. Conclusão: Devido ao diagnóstico precoce, o tratamento adequado foi instalado rapidamente proporcionando à paciente um aumento da expectativa e da qualidade de vida, evitando dependência de terapia renal substitutiva.Palavras-Chave: Granulomatose de Wegener, Plasmaferese, Doença renal crônica.  ABSTRACTIntroduction: The Wegener's Granulomatosis (WG) is a rare and idiopathic vasculitis associated with the presence of Antineutrophil Cytoplasmic Antibody (ANCA), that affects, preferentially, the small vessels. The clinical manifestations are diverse, occurring in over 90% of cases, symptoms in the respiratory tract. Kidney damage is a late and bad prognostic predictor. Morbidity in the medium and long term includes chronic renal failure. The probability of renal function maintenance success depends on serum creatinine concentration at the beginning of treatment that indicates the importance of early diagnosis and deployment of an appropriate therapy. Case Report: We present a case of a 61-year-old female patient, carrier of GW with advanced renal impairment presentation, not preceded by expected pulmonary symptoms. The immunosuppressive treatment associated with plasmapheresis allowed the improvement of the patient’s renal function, saving her from becoming dialysis-dependent Discussion: The patient developed the disease through asymptomatic renal failure, renal function with values that are compatible with the most advanced stage of chronic kidney disease, ultrasound of the kidneys without compatible changes and without the expected respiratory symptoms. According to the literature, the combination of immunosuppressive drugs and plasmapheresis is associated with renal recovery in three months with survival without dialysis for 12 months. In this case, a result was obtained in 22 days without the need for dialysis after one year. Conclusion: Due to the early diagnosis, appropriate treatment was quickly installed giving the patient increased life expectancy and quality, preventing dependence on renal replacement therapy.Keywords: Wegener’s granulomatosis, Plasmapheresis, Chronic renal failure.

scholarly journals Oral and Maxillo-Facial Manifestations of Systemic Diseases: An Overview

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 271
Author(s):  
Saverio Capodiferro ◽  
Luisa Limongelli ◽  
Gianfranco Favia
Keyword(s):  
Early Diagnosis ◽  
Oral Cavity ◽  
Head And Neck ◽  
Clinical Outcomes ◽  
Systemic Disease ◽  
Clinical Manifestations ◽  
Systemic Diseases ◽  
Special Issue ◽  
Hard Tissues ◽  
Current Special Issue

Many systemic (infective, genetic, autoimmune, neoplastic) diseases may involve the oral cavity and, more generally, the soft and hard tissues of the head and neck as primary or secondary localization. Primary onset in the oral cavity of both pediatric and adult diseases usually represents a true challenge for clinicians; their precocious detection is often difficult and requires a wide knowledge but surely results in the early diagnosis and therapy onset with an overall better prognosis and clinical outcomes. In the current paper, as for the topic of the current Special Issue, the authors present an overview on the most frequent clinical manifestations at the oral and maxillo-facial district of systemic disease.

scholarly journals The Prevalence of Sarcopenia and Its Impact on Clinical Outcomes in Lumbar Degenerative Spine Disease—A Systematic Review and Meta-Analysis

2021 ◽  
Vol 10 (4) ◽  
pp. 773
Author(s):  
Wei-Ting Wu ◽  
Tsung-Min Lee ◽  
Der-Sheng Han ◽  
Ke-Vin Chang
Keyword(s):  
Quality Of Life ◽  
Systematic Review ◽  
Clinical Outcomes ◽  
Meta Analysis ◽  
Clinical Manifestations ◽  
Current Evidence ◽  
Degenerative Spine ◽  
Degenerative Spine Disease ◽  
Spine Disease

The association of sarcopenia with poor clinical outcomes has been identified in various medical conditions, although there is a lack of quantitative analysis to validate the influence of sarcopenia on patients with lumbar degenerative spine disease (LDSD) from the available literature. Therefore, this systematic review and meta-analysis aimed to summarize the prevalence of sarcopenia in patients with LDSD and examine its impact on clinical outcomes. The electronic databases (PubMed and Embase) were systematically searched from inception through December 2020 for clinical studies investigating the association of sarcopenia with clinical outcomes in patients with LDSD. A random-effects model meta-analysis was carried out for data synthesis. This meta-analysis included 14 studies, comprising 1953 participants. The overall prevalence of sarcopenia among patients with LDSD was 24.8% (95% confidence interval [CI], 17.3%–34.3%). The relative risk of sarcopenia was not significantly increased in patients with LDSD compared with controls (risk ratio, 1.605; 95% CI, 0.321–8.022). The patients with sarcopenia did not experience an increase in low back and leg pain. However, lower quality of life (SMD, −0.627; 95% CI, −0.844–−0.410) were identified postoperatively. Sarcopenia did not lead to an elevated rate of complications after lumbar surgeries. Sarcopenia accounts for approximately one-quarter of the population with LDSD. The clinical manifestations are less influenced by sarcopenia, whereas sarcopenia is associated with poorer quality of life after lumbar surgeries. The current evidence is still insufficient to support sarcopenia as a predictor of postoperative complications.

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