scholarly journals Atypical Presentation of Pseudoxanthoma Elasticum in Two Siblings from North India

2020 ◽  
Vol 63 (4) ◽  
pp. 198-201
Author(s):  
Sunayana Misra ◽  
Ravindra Kumar Saran
Keyword(s):  
Early Diagnosis ◽  
Patient Management ◽  
Arterial Wall ◽  
Pseudoxanthoma Elasticum ◽  
Phenotypic Heterogeneity ◽  
North India ◽  
Atypical Presentation ◽  
Skin Changes ◽  
Metabolic Defect

Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder occurring due to metabolic defect in the liver and manifesting predominantly in the skin, eyes and arteries. It shows characteristic yellowish papules on the skin around the nape of neck along with looseness of skin over flexural surfaces. PXE shows marked phenotypic heterogeneity. Complications related to arterial wall and retinal Bruchs’ membrane calcification occur later in life; early diagnosis therefore helps keep patient on follow up for development of the same. In Indian patients, classic skin changes may be missed clinically making histopathology pivotal in diagnosis and patient management.

scholarly journals Cutaneous and Vascular Deposits of 18F-NaF by PET/CT in the Follow-Up of Patients with Pseudoxanthoma Elasticum

2021 ◽  
Vol 10 (12) ◽  
pp. 2588
Author(s):  
Eugenia Lillo ◽  
Antonio Gutierrez-Cardo ◽  
Belén Murcia-Casas ◽  
Juan Luis Carrillo-Linares ◽  
Francisco Garcia-Argüello ◽  
...  
Keyword(s):  
Ct Scan ◽  
Arterial Wall ◽  
Surrogate Marker ◽  
Calcium Score ◽  
Pseudoxanthoma Elasticum ◽  
Elastic Fibers ◽  
Pet Ct ◽  
Changes Over Time ◽  
Pet Ct Scan

Active microcalcification of elastic fibers is a hallmark of pseudoxanthoma elasticum and it can be measured with the assessment of deposition of 18F-NaF using a PET/CT scan at the skin and vascular levels. It is not known whether this deposition changes over time in absence of specific therapy. We repeated in two years a PET/CT scan using 18F-NaF as a radiopharmaceutical in patients with the disease and compared the deposition at skin and vessel. Furthermore, calcium score values at the vessel wall were also assessed. Main results indicate in the vessel walls that calcification progressed in each patient; by contrast, the active microcalcification, measured and target-to-background ratio showed reduced active deposition. By contrast, at skin levels (neck and axillae) the uptake of the pharmaceutical remains unchanged. In conclusion, because calcification in the arterial wall is not specific for pseudoxanthoma elasticum condition, the measurement of the deposition of 18F-NaF in the neck might be potentially used as a surrogate marker in future trials for the disease.

Postural Changes in Essential Hypertension under Treatment and their Effect on the Renogram

1971 ◽  
Vol 10 (01) ◽  
pp. 39-46
Author(s):  
C. Alexandrou ◽  
E. Papadakis ◽  
E. Gyftaki ◽  
J. Darsinos
Keyword(s):  
Renal Function ◽  
Essential Hypertension ◽  
Early Diagnosis ◽  
Postural Hypotension ◽  
Antihypertensive Treatment ◽  
Normal Subjects ◽  
Upright Position ◽  
Postural Changes ◽  
Significant Impairment

SummaryRadioisotope renograms were obtained in the upright and prone position in 9 normal subjects, in 5 patients with untreated essential hypertension and in 21 hypertensives under treatment, showing moderate postural hypotension.No significant renographic change were seen in the two positions in normal subjects and untreated hypertensives. Treated hypertensives with postural hypotension showed significant impairment of renal function in the upright position in 15 cases and no change in 6. Renal creatinine clearance was lower in the group that showed renographic changes. Renography in the upright position is suggested as a convenient test for early diagnosis and follow-up of the adverse effects of antihypertensive treatment.

scholarly journals The association between gastro-oesophageal reflux disease and subsequent rheumatoid arthritis occurrence: a nested case–control study from Taiwan

BMJ Open ◽  
2017 ◽  
Vol 7 (11) ◽  
pp. e016667 ◽  
Author(s):  
Herng-Ching Lin ◽  
Sudha Xirasagar ◽  
Cha-Ze Lee ◽  
Chung-Chien Huang ◽  
Chao-Hung Chen
Keyword(s):  
Rheumatoid Arthritis ◽  
Early Diagnosis ◽  
Reflux Disease ◽  
Treatment Guidelines ◽  
Population Based ◽  
Oesophageal Reflux ◽  
Study Patient ◽  
Oesophageal Reflux Disease ◽  
Increased Risk

ObjectiveGastro-oesophageal reflux disease (GORD) is a common comorbidity among patients with rheumatoid arthritis (RA). While GORD has been attributed to the antirheumatic medications, no studies of human cohorts have investigated a link between GORD and RA. This study investigates whether GORD is associated with a subsequent RA diagnosis over a 5-year follow-up using a population-based dataset.SettingTaiwanParticipantsWe used data from the Taiwan Longitudinal Health Insurance Database. The study group consisted of 13 645 patients with an ambulatory claim showing a GORD diagnosis. We used propensity score matching to select 13 645 comparison patients (one per study patient with GORD).InterventionWe tracked each patient’s claims over a 5-year period to identify those who subsequently received a diagnosis of RA. Cox proportional hazard (PH) regression modelling was used for analysis.ResultsOver 5-year follow-up, RA incidence rate per 1000 person-years was 2.81 among patients with GORD and 0.84 among the comparison group. Cox PH modelling showed that GORD was independently associated with a 2.84-fold increased risk of RA (95% CI 2.09 to 3.85) over 5-year follow-up, after adjusting for the number of ambulatory care visits within the year following the index date (to mitigate surveillance bias).ConclusionsWe observed that GORD might associate with subsequent RA occurrence. Because current treatment guidelines for RA emphasise early diagnosis and prompt treatment, the observed association between GORD and RA may help acquaint clinicians to patients with GORD with higher RA risk and facilitate early diagnosis and treatment.

Laryngeal cancer

2021 ◽  
pp. 175573802110105
Author(s):  
Kelvin Miu
Keyword(s):  
Head And Neck Cancer ◽  
Early Diagnosis ◽  
Head And Neck ◽  
Patient Outcomes ◽  
Laryngeal Cancer ◽  
Neck Cancer ◽  
Early Recognition ◽  
Signs And Symptoms ◽  
Diagnosis And Treatment

Laryngeal cancer is a common head and neck cancer and typically presents with voice hoarseness in patients older than 60 years. Early recognition of signs and symptoms of laryngeal cancer can lead to early diagnosis and treatment, therefore improving patient outcomes. This article aims to provide an overview of the anatomy of the larynx, presentation and management of laryngeal cancer, and common follow-up problems.

scholarly journals ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis

2020 ◽  
Vol 105 (7) ◽  
pp. 2119-2131 ◽  
Author(s):  
Julie Harvengt ◽  
Caroline Gernay ◽  
Meriem Mastouri ◽  
Nesrine Farhat ◽  
Marie-Christine Lebrethon ◽  
...  
Keyword(s):  
Systematic Review ◽  
Early Diagnosis ◽  
Individual Patient Data ◽  
Psychiatric Symptoms ◽  
Clinical Manifestations ◽  
Rapid Onset ◽  
Patient Data ◽  
Autonomic Dysregulation ◽  
Hypothalamic Dysfunction

Abstract Context Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHHAD[NET]) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first definition in 2007, a complete clinical analysis leading to specific diagnosis and follow-up recommendations is still missing. Objective The purpose of this work is to describe the clinical timeline of symptoms of ROHHAD(NET) and propose recommendations for diagnosis and follow-up. Design We conducted a systematic review of all ROHHAD(NET) case studies and report a new ROHHAD patient with early diagnosis and multidisciplinary care. Methods All the articles that meet the definition of ROHHAD(NET) and provide chronological clinical data were reviewed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis individual patient data guidelines. The data were grouped into 7 categories: hypothalamic dysfunction, autonomic dysregulation, hypoventilation, NET, psychiatric symptoms, other clinical manifestations, and outcome. Results Forty-three individual patient data descriptions were analyzed. The timeline of the disease shows rapid-onset obesity followed shortly by hypothalamic dysfunction. Dysautonomia was reported at a median age of 4.95 years and hypoventilation at 5.33 years, or 2.2 years after the initial obesity. A NET was reported in 56% of the patients, and 70% of these tumors were diagnosed within 2 years after initial weight gain. Conclusion Because early diagnosis improves the clinical management and the prognosis in ROHHAD(NET), this diagnosis should be considered for any child with rapid and early obesity. We propose guidance for systematic follow-up and advise multidisciplinary management with the aim of improving prognosis and life expectancy.

Early diagnosis, clinical management, and follow-up of cardiovascular events with ponatinib

2020 ◽  
Vol 25 (3) ◽  
pp. 447-456 ◽  
Author(s):  
Grazia Casavecchia ◽  
Maurizio Galderisi ◽  
Giuseppina Novo ◽  
Matteo Gravina ◽  
Ciro Santoro ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Clinical Management ◽  
Cardiovascular Events

scholarly journals Effectiveness of Transjugular Intrahepatic Portosystemic Shunt in Variceal Bleeding: An Audit from a Tertiary Care Center in North India

2017 ◽  
Vol 01 (03) ◽  
pp. 150-155
Author(s):  
Arun Gupta ◽  
Ajay Mehta ◽  
Nitin Mishra ◽  
Rajendra Bansal ◽  
Ajit Yadav
Keyword(s):  
Variceal Bleeding ◽  
Patency Rate ◽  
Care Center ◽  
Tertiary Care ◽  
Portosystemic Shunt ◽  
North India ◽  
Related Complication ◽  
Variceal Bleed ◽  
Intrahepatic Portosystemic Shunt

AbstractVariceal bleeding is one of the most feared complications of cirrhosis and portal hypertension. Transjugular intrahepatic portosystemic shunt (TIPS) is an effective minimally invasive option to achieve adequate decompression of the portal system. The aim of the study was to assess the efficacy and complications of TIPS in patients presenting with variceal bleed. It was a retrospective study done in a tertiary care center in North India in cirrhotic patients with acute or recurrent variceal bleed who underwent TIPS from April 2010 to October 2013. All the patients were followed up till April 2014. We could successfully implant TIPS in 100% of our patients with 100% success rate in controlling variceal bleeding immediately and during the follow-up period. Our primary patency rate was 94.5% and overall patency rate was 100%. Major TIPS-related complication was hepatic encephalopathy in 20% of patients; 7 of 22 patients died during the follow-up period. TIPS is a safe and effective procedure for control of acute or recurrent variceal bleed. Emerging evidence in favor of early TIPS is further going to expand its indication in variceal bleed. Hepatic encephalopathy was the major procedure-related complication in our study consistent with previous literature reports.

Childhood Fever: Correlation of Diagnosis With Temperature Response to Acetaminophen

PEDIATRICS ◽  
1987 ◽  
Vol 80 (3) ◽  
pp. 315-318
Author(s):  
M. Douglas Baker ◽  
Patricia D. Fosarelli ◽  
Richard O. Carpenter
Keyword(s):  
Patient Management ◽  
Temperature Response ◽  
Pediatric Emergency ◽  
Bacterial Disease ◽  
X Ray ◽  
Chest X Ray ◽  
Antipyretic Treatment ◽  
Fever Response ◽  
Childhood Fever

Many people believe that temperature response to antipyretics in febrile children varies according to diagnosis. To evaluate the validity of this premise, we prospectively studied the temperature response to acetaminophen of febrile children who came to an urban pediatric emergency and walk-in facility. The study group consisted of 1,559 patients between the ages of 8 weeks and 6 years whose temperatures when seen were greater than 38.4°C and who had not received antipyretic treatment within the previous four hours. Acetaminophen (15 mg/kg) was administered to each child and repeat temperatures were taken one and two hours later. Patient management was unaffected by the study, and physicians were unaware of the repeat temperature measurements. Telephone follow-up was conducted with the parents of each child within five days of the initial visit. Children with cultures positive for bacterial disease or chest x-ray films positive for pneumonia had slightly greater one- and two-hour temperature decreases compared with children with other diagnoses. Although statistically significant, we do not consider these differences in response to be clinically useful. We conclude that fever response to acetaminophen is not a clinically useful indicator by which to differentiate the causes of febrile illnesses in young children.

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