scholarly journals Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
David Adams ◽  
Vincent Algalarrondo ◽  
Michael Polydefkis ◽  
Nitasha Sarswat ◽  
Michel S. Slama ◽  
...  
Keyword(s):  
Disease Progression ◽  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
Restrictive Cardiomyopathy ◽  
Multiple Organs ◽  
Disease Modifying Therapies ◽  
Target Organs ◽  
The Us ◽  
Management Guidance

Abstract Background Hereditary transthyretin-mediated amyloidosis, also known as ATTRv amyloidosis (v for variant), is a rare, autosomal dominant, fatal disease, in which systemic amyloid progressively impairs multiple organs, leading to disability and death. The recent approval of disease-modifying therapies offers the hope of stabilization or eventual reversal of disease progression, and yet highlights a lack of disease-management guidance. A multidisciplinary panel of expert clinicians from France and the US came to consensus on monitoring the disease and identifying progression through a clinical opinion questionnaire, a roundtable meeting, and multiple rounds of feedback. Monitoring disease and progression A multidisciplinary team should monitor ATTRv amyloidosis disease course by assessing potential target organs at baseline and during follow-up for signs and symptoms of somatic and autonomic neuropathy, cardiac dysfunction and restrictive cardiomyopathy, and other manifestations. Variability in penetrance, symptoms, and course of ATTRv amyloidosis requires that all patients, regardless of variant status, undergo regular and standardized assessment in all these categories. Progression in ATTRv amyloidosis may be indicated by: worsening of several existing quantifiable symptoms or signs; the appearance of a new symptom; or the worsening of a single symptom that results in a meaningful functional impairment. Conclusions We suggest that a multisystem approach to monitoring the signs and symptoms of ATTRv amyloidosis best captures the course of the disease. We hope this work will help form the basis of further, consensus-based guidance for the treatment of ATTRv amyloidosis.

scholarly journals Use of newer disease-modifying therapies in pediatric multiple sclerosis in the US

Neurology ◽  
2018 ◽  
Vol 91 (19) ◽  
pp. e1778-e1787 ◽  
Author(s):  
Kristen M. Krysko ◽  
Jennifer Graves ◽  
Mary Rensel ◽  
Bianca Weinstock-Guttman ◽  
Gregory Aaen ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Side Effect ◽  
Pediatric Patients ◽  
Dimethyl Fumarate ◽  
Short Term ◽  
Pediatric Multiple Sclerosis ◽  
Disease Modifying Therapies ◽  
The Us ◽  
Disease Modifying

ObjectiveTo characterize the use and safety of newer disease-modifying therapies (DMTs) in children with multiple sclerosis (MS) and clinically isolated syndrome (CIS) treated under 18 years of age.MethodsThis is a cohort study including children with MS or CIS followed at 12 outpatient practices participating in the US Network of Pediatric MS Centers. DMT use, including duration, dose, and side effects, was analyzed. Newer DMTs were defined as agents receiving Food and Drug Administration approval or with increased use in adult MS after 2005.ResultsAs of July 2017, 1,019 pediatric patients with MS (n = 748) or CIS (n = 271) were enrolled (65% female, mean onset 13.0 ± 3.9 years, mean follow-up 3.5 ± 3.1 years, median 1.6 visits per year). Of these, 78% (n = 587) with MS and 11% (n = 31) with CIS received DMT before 18 years of age. This consisted of at least one newer DMT in 42%, including dimethyl fumarate (n = 102), natalizumab (n = 101), rituximab (n = 57), fingolimod (n = 37), daclizumab (n = 5), and teriflunomide (n = 3). Among 17%, the initial DMT prescribed was a newer agent (36 dimethyl fumarate, 30 natalizumab, 22 rituximab, 14 fingolimod, 2 teriflunomide). Over the last 10 years, the use of newer agents has increased, particularly in those ≥12 years and to lesser extent in those <12 years. The short-term side effect profiles of newer DMTs did not differ from those reported in adults.ConclusionNewer DMTs are often used in pediatric MS, and have similar short-term safety, tolerability, and side effect profiles as in adults. These findings may help inform pediatric MS management.

Otological lesions in pachyonychia congenita syndrome

1996 ◽  
Vol 110 (12) ◽  
pp. 1145-1147
Author(s):  
Ricardo Ferreira Bento ◽  
Maria Heleba Guatimosim ◽  
Rogério de Leão Bensadon ◽  
Tanit Ganz Sanchez ◽  
Richard Louis Voegels
Keyword(s):  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
The Other ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Pachyonychia Congenita

AbstractThe authores report a case of patient with pachyonychia syndrome, a rare genedermatosis inherited as an autosomal dominant trait, who also had otological lesions beyond the other classic signs and symptoms of the syndrome. Many kinds of treatment have already been proposed, but all failed to show satisfactory results. A new, cheap and easy-to-use treatment was developed in this study, using keratoplastics interpolated with humectant lotion for 90 days. The results after three years of follow-up are still thoroughly satisfactory.

scholarly journals Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 196
Author(s):  
Jasna Suput Omladic ◽  
Maja Pajek ◽  
Urh Groselj ◽  
Katarina Trebusak Podkrajsek ◽  
Magdalena Avbelj Stefanija ◽  
...  
Keyword(s):  
Hormone Receptor ◽  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
Thyroid Stimulating Hormone ◽  
Ablation Therapy ◽  
Tsh Secretion ◽  
Tshr Gene ◽  
Adult Male Patient ◽  
Stimulating Hormone

Background and Objectives. Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism. It is caused by the thyroid-stimulating hormone receptor (TSHR) gene variants. So far, only around 40 families with FNAH have been reported. Patients with activating TSHR variants demonstrated the same classical signs and symptoms of hyperthyroidism as seen in patients with Graves’ disease. Since 2012, ablative therapy is recommended to avoid relapses of hyperthyroidism and its consequences. Case Presentation. We presented a young adult male patient with a novel heterozygous TSHR disease-causing variant p.Arg418Lys (c.1253G>A) in the exon 10, who presented with a mild but progressive FNAH, with a follow-up since infancy. Discussion. Constantly suppressed TSH, including during the euthyreosis in childhood and hypothyreosis after iodine ablation therapy, suggested central dysregulation of the TSH secretion.

scholarly journals AYURVEDIC MANAGEMENT OF AMLAPITTA (GASTRITIS) - A CASE REPORT

2021 ◽  
Vol 9 (10) ◽  
pp. 2609-2614
Author(s):  
Divya Singh Charan ◽  
Pramod Kumar Mishra ◽  
Indu Sharma ◽  
Neha Grover
Keyword(s):  
Case Report ◽  
Side Effects ◽  
Food Habits ◽  
Signs And Symptoms ◽  
Synthetic Drugs ◽  
H2 Receptor Blockers ◽  
The Us ◽  
Receptor Blockers ◽  
Diet And Lifestyle

Amlapitta is the most typical illness in the present era. In a rapidly growing civilization, Amlapitta is the outer- most common disorder within the current society, because of indulgence in incompatible food habits and activi- ties. Materialistic lifestyle provokes people to run behind a busy, tremendous stressful life which is the least con- cern towards proper food habits. "Hurry", “Worry” & “Curry” are the main causes of Amlapitta disease. The us- age of synthetic drugs like H2 receptor blockers & proton pump inhibitors has decreased due to their side effects. The signs and symptoms of Amlapitta are very comparable to Gastritis or Hyperacidity. The ruling features of Amlapitta are Avipaka (indigestion), Urodaha (Burning in the chest), Utklesha (Nausea) Aruchi (Anorexia) and Tikta-Amlodgara (sour and bitter belching) have been described in Ayurvedic classical texts. A 42-year-old male patient came in OPD with the following complaints Tikta-Amlodgara, Urodaha, Utklesha, Aruchi, Praseka. Dur- ing Examination, the vitals are normal. The patient was treated with Sutshekar rasa 1 tab. BD, Avipattikar chura- na 3gm BD, Drakshavaleha 5gm BD on the basis. The patient was advised to follow up every 15th day. Along with medication, the patient was also advised to follow diet and lifestyle restrictions. Keywords: Agni, Amlapitta, Annavahasrotas, Hyperacidity.

scholarly journals Full title: COVID-19 disease progression according to initial symptoms. A telemedicine cohort study.

2022 ◽  
Author(s):  
Karla Murillo-Villanueva ◽  
Blanca Velazquez-Hernandez ◽  
Jose A Jacome-Mondragon ◽  
Judit J Cervantes-Llamas ◽  
Juan O Talavera
Keyword(s):  
Logistic Regression ◽  
Cohort Study ◽  
Disease Progression ◽  
Signs And Symptoms ◽  
Medical Attention ◽  
Clinical Progression ◽  
Symptom Index ◽  
Initial Symptoms ◽  
Asymptomatic Subjects

Abstract Objective COVID-19 progression to severe or critical illness may be related to initial clinical presentation. Main objective was to identify initial symptoms related to highest risk of disease progression, in mild or moderate suspected or confirmed COVID-19 patients or in asymptomatic subjects in contact with a recently diagnosed patient. Design and methods Historic cohort study of Mexican patients with suspected or confirmed mild or moderate COVID-19 or asymptomatic subjects in recent contact with positive patients. They sought medical attention in Centro Medico ABC or claimed for remote attention, and daily telemedicine follow up until recovery or illness progression, from April 17th to October 08th 2020. Data excerpted for analysis were sex, age, body mass index, comorbidities, and signs, and symptoms presented in first day of disease manifestations and during follow up. We used logistic regression to identify initial symptoms associated with progression disease and through a conjunctive consolidation analysis a symptom index was created. Results 120 of 1635 patients (7.2%) had clinical progression disease. By logistic regression we found as initial symptoms related to progression: fever OR 3 (1.89-4.77, p<0.001), cough OR 2.34 (1.56-3.52, p<0.001), myalgias or arthralgias OR 1.69 (1.09-2.63, p=0.018), and fatigue OR 1.65 (1.08-2.53, p=0.019). Conjunctive consolidation was processed with the previous symptoms, and a 3 groups score resulted C-19PAIS Index: 1) Fever with cough or fever with fatigue, with a probability of progression disease of 29% (31/106 patients), 2) Fever or cough or fatigue or cough with fatigue, 10.7% (66/615 patients) and 3) No fever, no cough, no fatigue, 2% (23/914). Conclusions Initial symptoms predict clinical progression in COVID-19 patients.

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.

Sign in / Sign up

Export Citation Format

Share Document