scholarly journals Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study

2021 ◽  
Author(s):  
Svetlana Vakkilainen ◽  
Paula Klemetti ◽  
Timi Martelius ◽  
Mikko JR Seppänen ◽  
Outi Mäkitie ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Optimal Schedule ◽  
Pulmonary Complications ◽  
Immunoglobulin M ◽  
Lung Imaging ◽  
Variable Degree ◽  
Cartilage Hair Hypoplasia ◽  
Tract Infections ◽  
Inflammatory Changes

AbstractCartilage-hair hypoplasia is a syndromic immunodeficiency with short stature, chondrodysplasia, and variable degree of immune dysfunction. Patients with cartilage-hair hypoplasia are prone to recurrent respiratory tract infections, and the prevalence of bronchiectasis ranges from 29 to 52%. Pulmonary complications contribute significantly to the mortality; therefore, regular lung imaging is essential. However, the optimal schedule for repeated lung imaging remains unestablished. We determined the rate and correlates of progression of structural lung changes in a prospectively followed cohort of 16 patients with cartilage-hair hypoplasia. We analyzed clinical, laboratory, and pulmonary functional testing data and performed lung magnetic resonance imaging at a median interval of 6.8 years since previous imaging. Imaging findings remained identical or improved due to disappearance of inflammatory changes in all evaluated patients. Patients with subtle signs of bronchiectasis on imaging tended to have low immunoglobulin M levels, as well as suffered from pneumonia during the follow-up. In conclusion, our results suggest slow if any development of bronchiectasis in selected subjects with cartilage-hair hypoplasia.

Complete resolution of acute pancreatitis-induced chylous ascites following transhepatic portal vein stenting

2020 ◽  
Vol 13 (12) ◽  
pp. e235986
Author(s):  
Alexander Tindale ◽  
James Jackson ◽  
Darina Kohoutova ◽  
Panagiotis Vlavianos
Keyword(s):  
Portal Vein ◽  
Complete Resolution ◽  
Chylous Ascites ◽  
Biliary Pancreatitis ◽  
Acute Biliary Pancreatitis ◽  
Portal Vein Stenosis ◽  
First Case ◽  
Vein Stenosis ◽  
Inflammatory Changes

We introduce a case of a 73-year-old man who developed intractable chylous ascites due to portal vein compression as a result of peripancreatic inflammatory changes after acute biliary pancreatitis. After stenting the portal vein stenosis, the chylous ascites improved from requiring weekly paracentesis to requiring no drainage within 4 months of the procedure and at the 15-month follow-up. To our knowledge, it is the first case reported in the literature where portal vein stenting has successfully been used to treat pancreatitis-induced chylous ascites.

scholarly journals Prognosis and treatment of 46 Chinese pediatric cystic fibrosis patients

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Qionghua Chen ◽  
Yuelin Shen ◽  
Hui Xu ◽  
Xiaolei Tang ◽  
Haiming Yang ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Lung Function ◽  
Respiratory Tract Infections ◽  
Adverse Reactions ◽  
Clinical Presentation ◽  
Public Awareness ◽  
Sputum Production ◽  
Tract Infections ◽  
Lost To Follow Up

Abstract Background Since public awareness of cystic fibrosis (CF) has increased, more children have been diagnosed with CF in China. This study aimed to investigate medical and other challenges faced by pediatric CF patients in China. Method Treatments and treatment outcomes were retrospectively analyzed for 46 pediatric CF patients diagnosed from August 2009 to June 2019. Pre- and post-treatment results were compared using independent samples t-test. Results Of 46 pediatric CF study patients, four died and five were lost to follow-up. Thirty-seven patients were monitored for 0.03 to 9.21 years; patients exhibited fewer attacks of respiratory tract infections after diagnosis (4.49 ± 2.13 episodes/year before diagnosis vs 1.97 ± 1.87 times/year after 1-year treatment, p < 0.05), significantly reduced sputum production and experienced 1.62 ± 1.71 exacerbations/year. Patient mean body mass index was 16.87 ± 3.53 and pancreatic malfunction persisted in 15 patients. For 17 children, no significant differences in lung function were found at follow-up as compared to lung function at diagnosis (FEV1: 82.45% ± 16.56% vs 75.26% ± 22.34%, FVC: 87.18% ± 13.64% vs 86.99% ± 19.95%, FEF75%: 46.51% ± 28.78% vs 36.63% ± 24.30%, P = 0.27, 0.97, 0.20, respectively). Pseudomonas aeruginosa (17/27) and bronchiectasis (22/22) were found during follow-up evaluation. Twenty-four patients (64.8%) maintained good adherence to therapies. Overall, azithromycin and tobramycin treatments were administered for 0.5–62 months and 0.5–48 months, respectively, and triggered no obvious adverse reactions. Conclusion No obvious declines in clinical presentation or lung function were found in Chinese pediatric CF patients after receiving standard therapeutic and active treatments, although malnutrition and low compliance were persistent challenges.

scholarly journals COVID-19 infection: epidemiological, clinical, and radiological expression among adult population

2020 ◽  
Vol 51 (1) ◽  
Author(s):  
Eman Ragab ◽  
Asrar Helal Mahrous ◽  
Ghadeer Maher El Sheikh
Keyword(s):  
Serum Ferritin ◽  
Clinical Laboratory ◽  
Adult Population ◽  
Significant Risk ◽  
High Serum ◽  
Male Gender ◽  
Lower Sensitivity ◽  
Significant Difference ◽  
D Dimer

Abstract Background High-resolution computed tomography (HRCT) has proved to be an important diagnostic tool throughout the COVID-19 pandemic outbreaks. Increasing number of the infected personnel and shortage of real-time transcriptase polymerase chain reaction (RT-PCR) as well as its lower sensitivity made the CT a backbone in diagnosis, assessment of severity, and follow-up of the cases. Results Two hundred forty patients were evaluated retrospectively for clinical, laboratory, and radiological expression in COVID-19 infection. One hundred eighty-six non-severe cases with home isolation and outpatient treatment and 54 severe cases needed hospitalization and oxygen support. Significant difference between both groups was encountered regarding the age, male gender, > 38° fever, dyspnea, chest pain, hypertension, ≤ 93 oxygen saturation, intensive care unit (ICU) admission, elevated D-dimer, high serum ferritin and troponin levels, and high CT-severity score (CT-SS) of the severe group. CT-SS showed a negative correlation with O2 saturation and patients’ outcome (r − 0.73/p 0.001 and r − 0.56/p 0.001, respectively). Bilateral peripherally distributed ground glass opacities (GGOs) were the commonest imaging feature similar to the literature. Conclusion Older age, male gender, smoking, hypertension, low O2 saturation, increased CT score, high serum ferritin, and high D-dimer level are the most significant risk factors for severe COVID-19 pneumonia. Follow-up of the recovered severe cases is recommended to depict possible post COVID-19 lung fibrosis.

scholarly journals Large Bowel Ischemia/Infarction: How to Recognize It and Make Differential Diagnosis? A Review

Diagnostics ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 998
Author(s):  
Francesca Iacobellis ◽  
Donatella Narese ◽  
Daniela Berritto ◽  
Antonio Brillantino ◽  
Marco Di Serafino ◽  
...  
Keyword(s):  
Ischemic Colitis ◽  
Intestinal Ischemia ◽  
Bowel Wall ◽  
Clinical Laboratory ◽  
Supportive Therapy ◽  
Ischemic Necrosis ◽  
Diagnostic Investigation ◽  
Enhanced Ct ◽  
Common Etiology

Ischemic colitis represents the most frequent form of intestinal ischemia occurring when there is an acute impairment or chronic reduction in the colonic blood supply, resulting in mucosal ulceration, inflammation, hemorrhage and ischemic necrosis of variable severity. The clinical presentation is variable and nonspecific, so it is often misdiagnosed. The most common etiology is hypoperfusion, almost always associated with generalized atherosclerotic disease. The severity ranges from localized and transient ischemia to transmural necrosis of the bowel wall, becoming a surgical emergency, with significant associated morbidity and mortality. The diagnosis is based on clinical, laboratory suspicion and radiological, endoscopic and histopathological findings. Among the radiological tests, enhanced-CT is the diagnostic investigation of choice. It allows us to make the diagnosis in an appropriate clinical setting, and to define the entity of the ischemia. MR may be adopted in the follow-up in patients with iodine allergy or renal dysfunctions, or younger patients who should avoid radiological exposure. In the majority of cases, supportive therapy is the only required treatment. In this article we review the pathophysiology and the imaging findings of ischemic colitis.

scholarly journals Microbiome recovery in adult females with uncomplicated urinary tract infections in a randomised phase 2A trial of the novel antibiotic gepotidacin (GSK140944)

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Andrea Nuzzo ◽  
Stephanie Van Horn ◽  
Christopher Traini ◽  
Caroline R. Perry ◽  
Etienne F. Dumont ◽  
...  
Keyword(s):  
Urinary Tract ◽  
Urinary Tract Infections ◽  
Human Microbiome ◽  
Time Points ◽  
Pharyngeal Cavity ◽  
Adult Females ◽  
Microbiome Diversity ◽  
Antibiotic Drug ◽  
Tract Infections

Abstract Background With increasing concerns about the impact of frequent antibiotic usage on the human microbiome, it is important to characterize the potential for such effects in early antibiotic drug development clinical trials. In a randomised Phase 2a clinical trial study that evaluated the pharmacokinetics of repeated oral doses of gepotidacin, a first-in-chemical-class triazaacenaphthylene antibiotic with a distinct mechanism of action, in adult females with uncomplicated urinary tract infections for gepotidacin (GSK2140944) we evaluated the potential changes in microbiome composition across multiple time points and body-sites (ClinicalTrials.gov: NCT03568942). Results Samples of gastrointestinal tract (GIT), pharyngeal cavity and vaginal microbiota were collected with consent from 22 patients at three time points relative to the gepotidacin dosing regimen; Day 1 (pre-dose), Day 5 (end of dosing) and Follow-up (Day 28 ± 3 days). Microbiota composition was determined by DNA sequencing of 16S rRNA gene variable region 4 amplicons. By Day 5, significant changes were observed in the microbiome diversity relative to pre-dose across the tested body-sites. However, by the Follow-up visit, microbiome diversity changes were reverted to compositions comparable to Day 1. The greatest range of microbiome changes by body-site were GIT followed by the pharyngeal cavity then vagina. In Follow-up visit samples we found no statistically significant occurrences of pathogenic taxa. Conclusion Our findings suggest that gepotidacin alteration of the human microbiome after 5 days of dosing is temporary and rebound to pre-dosing states is evident within the first month post-treatment. We recommend that future antibiotic drug trials include similar exploratory investigations into the duration and context of microbiome modification and recovery. Trial registration NCT03568942. Registered 26 June 2018.

scholarly journals Long-Term Follow-Up of Denosumab Discontinuers with Multiple Vertebral Fractures in the Real-World: A Case Series

2021 ◽  
Author(s):  
Liana Tripto-Shkolnik ◽  
Yair Liel ◽  
Naama Yekutiel ◽  
Inbal Goldshtein
Keyword(s):  
Real World ◽  
Vertebral Fractures ◽  
Clinical Laboratory ◽  
Case Series ◽  
High Risk Group ◽  
Imaging Data ◽  
Long Term Follow Up ◽  
Multiple Vertebral Fractures

AbstractDenosumab discontinuation is associated with rapid reversal of bone turnover suppression and with a considerable increase in fracture risk, including a risk for multiple vertebral fractures (MVF). Long-term follow-up of patients who sustained MVF after denosumab discontinuation has not been reported. This case-series was aimed to provide a long-term follow-up on the management and outcome of denosumab discontinuers who initially presented with multiple vertebral fractures. Denosumab discontinuers were identified from a computerized database of a large healthcare provider. Baseline and follow-up clinical, laboratory, and imaging data were obtained from the computerized database and electronic medical records. The post-denosumab discontinuers MVF patients consisted of 12 women aged 71±12. Osteoporotic fractures were prevalent before denosumab discontinuation in 6 of the patients. The majority received bisphosphonates before denosumab. MVF occurred 134±76 days after denosumab discontinuation. The patients were followed for a median of 36.5 (IQR 28.2, 42.5) months after MVF. Two patients passed-away. Two patients suffered recurrent vertebral fractures. Following MVF, patients were treated inconsistently with denosumab, teriparatide, oral, and intravenous bisphosphonates, in various sequences. Two patients underwent vertebroplasty/kyphoplasty. This long-term follow-up of real-world patients with MVF following denosumab discontinuation reveals that management is inconsistent, and recurrent fractures are not uncommon. It calls for clear management guidelines for patients with MVF after denosumab discontinuation and for special attention to this high-risk group.

scholarly journals Update and clinical management of anti-DNA auto-antibodies

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Concepción González Rodríguez ◽  
MªBelén Aparicio Hernández ◽  
Inmaculada Alarcón Torres
Keyword(s):  
Lupus Erythematosus ◽  
Analytical Methods ◽  
Clinical Laboratory ◽  
Meta Analysis ◽  
Laboratory Methods ◽  
Wide Variability ◽  
Diagnostic Usefulness ◽  
Dna Antibodies ◽  
Editorial Review

Abstract Objectives Anti-deoxyribonucleic acid (DNA) antibodies in the clinical laboratory are intimately linked to the diagnosis and monitoring of systemic lupus erythematosus (SLE); however, the characteristics of the analytical methods and the properties of the antibodies themselves are heterogeneous. To review the definition and properties of anti-double-stranded anti-DNA (anti-dsDNA) antibodies, the adequacy of analytical methods, and the clinical requirements for this biomarker. Content Through PubMed we searched the existing literature with the terms anti-dsDNA, editorial, review, guideline, meta-analysis and SLE. The last search, anti-dsDNA and SLE restricted to the last two years. Information was expanded through related articles and those published in official state bodies related to anti-dsDNA and SLE. Summary Clinical laboratory methods for anti-dsDNA analysis and their characteristics are analyze. The clinical utility of anti-dsDNA in its diagnostic, clinical association and follow-up aspects of SLE is reviewed. Outlook There is wide variability in analytical methods and deficits in standardization persist. They are part of the current SLE classification criteria and are used as markers in the follow-up of the disease. Their diagnostic usefulness improves when they are determined in antinuclear antibody (ANA)-positive patients. In follow-up, quantification is of interest, preferably with the same analytical method (given the deficits in standardization).

Effects of procalcitonin testing on antibiotic use and clinical outcomes in patients with upper respiratory tract infections. An individual patient data meta-analysis

2017 ◽  
Vol 56 (1) ◽  
Author(s):  
Jonas Odermatt ◽  
Natalie Friedli ◽  
Alexander Kutz ◽  
Matthias Briel ◽  
Heiner C. Bucher ◽  
...  
Keyword(s):  
Respiratory Tract ◽  
Antibiotic Therapy ◽  
Respiratory Tract Infections ◽  
Meta Analysis ◽  
Antibiotic Exposure ◽  
Upper Respiratory Tract ◽  
Upper Respiratory ◽  
Restricted Activity ◽  
Tract Infections

AbstractBackground:Several trials found procalcitonin (PCT) helpful for guiding antibiotic treatment in patients with lower respiratory tract infections and sepsis. We aimed to perform an individual patient data meta-analysis on the effects of PCT guided antibiotic therapy in upper respiratory tract infections (URTI).Methods:A comprehensive search of the literature was conducted using PubMed (MEDLINE) and Cochrane Library to identify relevant studies published until September 2016. We reanalysed individual data of adult URTI patients with a clinical diagnosis of URTI. Data of two trials were used based on PRISMA-IPD guidelines. Safety outcomes were (1) treatment failure defined as death, hospitalization, ARI-specific complications, recurrent or worsening infection at 28 days follow-up; and (2) restricted activity within a 14-day follow-up. Secondary endpoints were initiation of antibiotic therapy, and total days of antibiotic exposure.Results:In total, 644 patients with a follow up of 28 days had a final diagnosis of URTI and were thus included in this analysis. There was no difference in treatment failure (33.1% vs. 34.0%, OR 1.0, 95% CI 0.7–1.4; p=0.896) and days with restricted activity between groups (8.0 vs. 8.0 days, regression coefficient 0.2 (95% CI –0.4 to 0.9), p=0.465). However, PCT guided antibiotic therapy resulted in lower antibiotic prescription (17.8% vs. 51.0%, OR 0.2, 95% CI 0.1–0.3; p<0.001) and in a 2.4 day (95% CI –2.9 to –1.9; p<0.001) shorter antibiotic exposure compared to control patients.Conclusions:PCT guided antibiotic therapy in the primary care setting was associated with reduced antibiotic exposure in URTI patients without compromising outcomes.

Performance of the Surprise Question Compared to Prediction Models in Hemodialysis Patients: A Prospective Study

2017 ◽  
Vol 46 (5) ◽  
pp. 390-396 ◽  
Author(s):  
Rakesh Malhotra ◽  
Xia Tao ◽  
Yuedong Wang ◽  
Yuqi Chen ◽  
Rebecca H. Apruzzese ◽  
...  
Keyword(s):  
Linear Models ◽  
Prediction Models ◽  
Clinical Laboratory ◽  
Mortality Prediction ◽  
Operating Characteristics ◽  
Dialysis Treatment ◽  
Mortality Probability ◽  
A Prospective Study ◽  
Surprise Question

Background: The surprise question (SQ) (“Would you be surprised if this patient were still alive in 6 or 12 months?”) is used as a mortality prognostication tool in hemodialysis (HD) patients. We compared the performance of the SQ with that of prediction models (PMs) for 6- and 12-month mortality prediction. Methods: Demographic, clinical, laboratory, and dialysis treatment indicators were used to model 6- and 12-month mortality probability in a HD patients training cohort (n = 6,633) using generalized linear models (GLMs). A total of 10 nephrologists from 5 HD clinics responded to the SQ in 215 patients followed prospectively for 12 months. The performance of PM was evaluated in the validation (n = 6,634) and SQ cohorts (n = 215) using the areas under receiver operating characteristics curves. We compared sensitivities and specificities of PM and SQ. Results: The PM and SQ cohorts comprised 13,267 (mean age 61 years, 55% men, 54% whites) and 215 (mean age 62 years, 59% men, 50% whites) patients, respectively. During the 12-month follow-up, 1,313 patients died in the prediction model cohort and 22 in the SQ cohort. For 6-month mortality prediction, the GLM had areas under the curve of 0.77 in the validation cohort and 0.77 in the SQ cohort. As for 12-month mortality, areas under the curve were 0.77 and 0.80 in the validation and SQ cohorts, respectively. The 6- and 12-month PMs had sensitivities of 0.62 (95% CI 0.35–0.88) and 0.75 (95% CI 0.56–0.94), respectively. The 6- and 12-month SQ sensitivities were 0.23 (95% CI 0.002–0.46) and 0.35 (95% CI 0.14–0.56), respectively. Conclusion: PMs exhibit superior sensitivity compared to the SQ for mortality prognostication in HD patients.

A retrospective analysis of congenital anomalies in congenital hypothyroidism

2020 ◽  
Vol 33 (9) ◽  
pp. 1147-1153
Author(s):  
Fatima Ali Mazahir ◽  
Manal Mustafa Khadora
Keyword(s):  
United Arab Emirates ◽  
Congenital Hypothyroidism ◽  
Clinical Laboratory ◽  
Tertiary Care ◽  
Significant Proportion ◽  
Cross Sectional Study ◽  
High Rate ◽  
Lingual Thyroid ◽  
Cross Sectional

AbstractObjectivesWe evaluated the spectrum of diseases accompanying congenital hypothyroidism (CH) in the United Arab Emirates and compared them with internationally studied patterns.MethodsThe presented retrospective cross-sectional study took place in two government tertiary care centres. In total, 204 patients with a confirmed diagnosis of CH and a minimum period of follow-up of 1 year were included. Patients with Down syndrome, infants born at <35 weeks of gestation, and babies with TORCH (Toxoplasma gondii, Other viruses [HIV, measles, etc.], Rubella, Cytomegalovirus, and Herpes simplex) infections were subsequently excluded from the study.ResultsOf the subjects with CH, 39% had associated extrathyroidal anomalies (ETAs); among these, 25% had a single anomaly. A significant proportion of Arab males were affected by CH as compared to other ethnic groups. Dyshormonogenesis was the commonest aetiological cause (55%) of CH. Males with an ectopic lingual thyroid gland had significant ETAs as compared to females of the same cohort. The most common ETAs were congenital heart disease (16%), followed by urogenital tract anomalies (14%).ConclusionsDetection of a high rate and variability of ETAs associated with CH necessitates the formulation of a structured screening programme including appropriate clinical, laboratory, and imaging tools to detect ETAs at an earlier stage.

Sign in / Sign up

Export Citation Format

Share Document