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“Rare or Not So Rare, That Is the Question”: Orphan...
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“Rare or Not So Rare, That Is the Question”: Orphan Diseases in Children

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Pulmonary and Sleep Medicine".

Deadline for manuscript submissions: closed (20 May 2022) | Viewed by 4307

Special Issue Editor

Dr. Wilfredo De Jesús Rojas

E-Mail Website
Guest Editor
Department of Pediatrics, University of Puerto Rico, San Juan, PR 00921, USA
Interests: rare lung diseases; primary ciliary dyskinesia; jarcho-levin syndrome; cystic fibrosis; bronchiolitis obliterans; central congenital hypoventilation syndrome; hermansky pudlak syndrome; hereditary hemorrhagic telangiectasia; rohhad, surfactant protein c deficiency; tbck gene mutation/boricua mutation; bardet-biedl syndrome; birk-barel syndrome; chrna7 15q13.3 microdeletion

Special Issue Information

Dear colleagues,

More than 6000 rare diseases affect more than 25 million of individuals in the United States of America. A disease that affects less than 200,000 individuals is considered to be a rare disease. The exact prevalence of pediatric rare diseases is still unknown. Rare and orphan diseases include several syndromes, most of them with a genetic etiology. The diagnostic challenges to identify and confirm a rare disease are significant. The complexity of treating and managing a patient with a rare disease may be difficult for the general medical provider without adequate diagnostic tools and specialist referrals. An interdisciplinary approach for rare-disease management is critical to address symptoms and for patients to have access to effective medical treatments. A better understanding of the basic science, medical pathophysiology, and clinical diagnosis for current and future treatments is needed. Additionally, new strategies to involve caretakers in the community to participate in pediatric rare-disease research is important to understand rare etiologies of the disease, decrease medical barriers, improve the access to healthcare and avoid health disparities in this population.

This Special Issue for the MDPI journal Children (ISSN 2227-9067) aims to present:

  • Case reports of rare pediatric diseases
  • Case series reports demonstrating new observations or trends of a unknown rare pediatric disease
  • Family studies of rare pediatric diseases
  • Basic scientific studies exploring rare pediatric diseases
  • New genotype–pheonotype associations in rare pediatric diseases.
  • Translational studies focus on health disparities related to rare diaseases
  • COVID-19-related complications in pediatric cases with rare diseases
  • Sleep comorbidities in rare pediatric diseases
  • Barriers for healthcare access in children with rare diseases

Manuscripts addressing these topics are invited for this Special Issue with the overall aim to increase awareness of pediatrics rare diseases around the world.

Dr. Wilfredo De Jesús Rojas
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • rare lung diseases
  • primary ciliary dyskinesia
  • jarcho-levin syndrome
  • cystic fibrosis
  • bronchiolitis obliterans
  • central congenital hypoventilation syndrome
  • hermansky pudlak syndrome
  • hereditary hemorrhagic telangiectasia
  • rohhad, surfactant protein c deficiency
  • tbck gene mutation/boricua mutation
  • bardet-biedl syndrome
  • birk-barel syndrome
  • chrna7 15q13.3 microdeletion

Published Papers (2 papers)

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Research

12 pages, 290 KiB  
Article
Oral Glucose Tolerance Test in Patients with Cystic Fibrosis Compared to the Overweight and Obese: A Different Approach in Understanding the Results
by Mirela Mogoi, Liviu Laurentiu Pop, Mihaela Dediu and Ioana Mihaiela Ciuca
Children 2022, 9(4), 533; https://doi.org/10.3390/children9040533 - 8 Apr 2022
Cited by 3 | Viewed by 1486
Abstract
(1) Background: In cystic fibrosis (CF), the oral glucose tolerance test (OGTT) is recommended from 10 years old annually to screen and diagnose cystic fibrosis-related diabetes (CFRD). Alternative OGTT characteristics (glucose curve shape, time to glucose peak, one-hour glucose value, and three-hour glucose [...] Read more.
(1) Background: In cystic fibrosis (CF), the oral glucose tolerance test (OGTT) is recommended from 10 years old annually to screen and diagnose cystic fibrosis-related diabetes (CFRD). Alternative OGTT characteristics (glucose curve shape, time to glucose peak, one-hour glucose value, and three-hour glucose value with the new shape curve) were studied in other populations considered at high risk for diabetes; (2) Methods: The study analyses classical and alternative OGGT characteristics from 44 children (22 CF, 22 obese without CF), mean age: 12.9 ± 2.2 years evaluated in a single-center from Romania. (3) Results: In 59.1% of children with CF, the predominant OGTT pattern was: abnormal glucose metabolism or CFRD, with a monophasic curve shape, a late peak glucose level, and 1 h glucose ≥ 155 mg/dL, showing a very different pattern compared with sex and age-matched obese children. Statistical estimation agreement between the late glucose peak (K = 0.60; p = 0.005), the 1 h glucose ≥ 155 mg/dL during OGTT (K = 0.69, p = 0.001), and the classical method of interpretation was found. (4) Conclusions: Late peak glucose and 1 h glucose level ≥ 155 mg/dL during OGTT can be used for diagnosing the early glucose metabolism alteration in children with CF. Full article
(This article belongs to the Special Issue “Rare or Not So Rare, That Is the Question”: Orphan Diseases in Children)
10 pages, 915 KiB  
Article
The Relation between Vitamin D Level and Lung Clearance Index in Cystic Fibrosis—A Pilot Study
by Mihaela Dediu, Ioana Mihaiela Ciuca, Liviu Laurentiu Pop and Daniela Iacob
Children 2022, 9(3), 329; https://doi.org/10.3390/children9030329 - 1 Mar 2022
Cited by 2 | Viewed by 2114
Abstract
Background: Life expectancy has increased in cystic fibrosis (CF) patients; however, the rate of mortality is still high, and in a majority of cases, the cause of death is due to respiratory deterioration. Vitamin D plays an important role in immunity and infection [...] Read more.
Background: Life expectancy has increased in cystic fibrosis (CF) patients; however, the rate of mortality is still high, and in a majority of cases, the cause of death is due to respiratory deterioration. Vitamin D plays an important role in immunity and infection prophylaxis, as its deficiency is associated with frequent infections. In CF patients, a deficit of liposoluble vitamins is common, despite daily supplementation. The aim of this study is to evaluate the relation between vitamin D status and lung function expressed by lung clearance index (LCI) in patients with CF. We also assessed the relation of factors such as nutritional status, genotype, and associated comorbidities such as Pseudomonas infection, cystic fibrosis-related diabetes (CFRD), and cystic fibrosis liver disease (CFLD) with vitamin D and LCI. Methods: A cross-sectional study was conducted at the National Cystic Fibrosis Center by analyzing patients with CF who presented in our center between November 2017 and November 2019. We enrolled in the study patients diagnosed with CF, who were followed up in our CF center and who were able to perform lung function tests. Patients in exacerbation were excluded. Results: A strong negative correlation was found between vitamin D and LCI (r = −0.69, p = 0.000). A lower vitamin D storage was found in patients with CFLD and CFRD. Higher LCI values were found among patients with chronic Pseudomonas infection, with BMI under the 25th percentile, or with associated CFLD. Conclusion: In CF patients, vitamin D plays an important role, and its deficit correlates with an impaired LCI. Vitamin D deficit is a risk factor in patients with associated comorbidities such as CFLD and CFRD. Chronic infection with Pseudomonas, the presence of impaired nutritional status, and CFLD are associated with a prolonged LCI. Full article
(This article belongs to the Special Issue “Rare or Not So Rare, That Is the Question”: Orphan Diseases in Children)
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