Cystic Fibrosis Diagnosis in Newborns, Children, and Adults

Semin Respir Crit Care Med DOI: 10.1055/s-0039-1697961The diagnosis of cystic fibrosis (CF) has traditionally relied on the presence of clinical features of the disease. Today, diagnosis through newborn screening (NBS) is becoming the standard of modern CF care. CF NBS programs can identify CF prior to clinical presentation, but for the advantages of an early diagnosis to accrue a scrupulous system must be in place to ensure all steps in the program are performing. As we move rapidly into the era of CF transmembrane conductance regulator (CFTR) protein modulators, the opportunity to start a presymptomatic infant, identified through CF NBS, on these agents offers the prospect of true disease-modifying interventions which could result in a paradigm shift in CF care.Conversely, the introduction of NBS has resulted in many children being asymptomatic at the time of diagnosis. Some screened newborns are classified as “CF Screening Positive, Inconclusive Diagnosis”, or “CFTR-related metabolic syndrome” when the diagnosis can neither be confirmed nor excluded. Appropriate assessment and follow-up should be arranged at specialist centers as a proportion of these infants and adults will eventually be diagnosed with CF.Symptoms and signs are particularly pertinent when considering a diagnosis of CF outside the context of NBS. In older patients with a late diagnosis, the spectrum of clinical presentation can be very variable with vigilant clinicians from multiple...
Source: Seminars in Respiratory and Critical Care Medicine - Category: Respiratory Medicine Authors: Tags: Review Article Source Type: research

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This study aimed to investigate whether spermatogenesis-related microRNAs mediate the associations between PAHs and semen quality. We measured 10 monohydroxylated PAHs (OH-PAHs) in repeated urine samples and three candidate spermatogenesis-related miRNAs (miRNA106a, miRNA21, and miRNA34c) in seminal plasma from men attending an infertility clinic (n = 111). Mediation analysis was applied to determine the mediating role of spermatogenesis-related miRNAs in the association of PAH exposure with semen quality. Urinary 2-OHFlu and 2-OHPh were related to reduced seminal plasma miRNA34c (p for trend = 0.05 and 0.03, respe...
Source: Journal of Hazardous Materials - Category: Environmental Health Source Type: research
Authors: Lopez RN, Lemberg DA Abstract Gastro-oesophageal reflux (GOR) in infancy is common, physiological and self-limiting; it is distinguished from gastro-oesophageal reflux disease (GORD) by the presence of organic complications and/or troublesome symptomatology. GORD is more common in infants with certain comorbidities, including history of prematurity, neurological impairment, repaired oesophageal atresia, repaired diaphragmatic hernia, and cystic fibrosis. The diagnosis of GORD in infants relies almost exclusively on clinical history and examination findings; the role of invasive testing and empirical trials...
Source: Medical Journal of Australia - Category: General Medicine Tags: Med J Aust Source Type: research
AbstractIntroductionSpermatogenesis ‐associated (SPATA) family of genes plays important roles in spermatogenesis, sperm maturation or fertilization. The knockout studies in mice have demonstrated that SPATA genes are crucial for fertility. Gene expression and genetic polymorphism studies have further suggested their correlation with infertility; however, methylation analysis of SPATA genes in human male infertility has not yet been undertaken.MethodsIn the present study, we have analyzed DNA methylation pattern in the promoter regions ofSPATA4,SPATA5 andSPATA6 genes in oligozoospermic patients and compared it with normoz...
Source: Andrology - Category: Urology & Nephrology Authors: Tags: ORIGINAL ARTICLE Source Type: research
Authors: Williams M, Jacobson KA Abstract The recent cloning of a number of distinct receptors belonging to the P2-purinoceptor superfamily has provided conclusive evidence for a pivotal role for ATP and other nucleotides as effector molecules involved in cell-to-cell communication and the modulation of many basic aspects of tissue function. ATP itself is being clinically evaluated as a cytotoxic agent for the treatment of cancer and as an adjunct to inhalation anaesthetic use. The pyrimidine nucleotide, UTP, is in clinical trials for the treatment of cystic fibrosis. The stable ATP bioisostere, ARL 67085, is being...
Source: Expert Opinion on Investigational Drugs - Category: Drugs & Pharmacology Tags: Expert Opin Investig Drugs Source Type: research
In this study, we investigated the effect of the roots of Cnidium officinale Makino (CoM) on endometrial receptivity in both in vitro and in vivo model of embryo implantation. We found that CoM enhanced the adhesion of JAr cells to Ishikawa cells by stimulating expression of leukemia inhibitory factor (LIF) and integrins. In addition, blocking of LIFR using hLA or neutralization of integrins αV, β3, and β5 using antibodies significantly reduced the enhanced adhesion between JAr cell and CoM-treated Ishikawa cells, indicating that LIF and integrin play an important role in trophoblast-endometrium adhesion fo...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Abstract Small supernumerary marker chromosomes (sSMCs), equal in size or smaller than chromosome 20 of the same metaphase, can hardly be identified through traditional banding technique. They are usually associated with intelligent disability, growth retardation, and infertility, but the genotype-phenotype correlations are still complicated for their complex origins and constitutions. Herein, we identified a 26-year-old Chinese infertile male who carried a mosaic sSMC and was diagnosed as severe oligospermia. The G-banding analysis initially described his karyotype as mos 47, XY, +mar[32]/46, XY[18]. The chromoso...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
ConclusionsThere is a wide spectrum of therapeutic uses of Kiss-1 and NKB agonists, including the management of infertility, treatment for PCOS, functional hypothalamic amenorrhea or postmenopausal vasomotor symptoms, as well as contraceptive issues. Nevertheless, further research is needed before kisspeptin and NKB analogs are fully incorporated in clinical practice.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research
Abstract Foxh1, a member of fox gene family, was first characterized as a transcriptional partner in the formation of the Smad protein complex. Recent studies have shown foxh1 is highly expressed in the cytoplasm of oocytes in both tilapia and mouse. However, its function in oogenesis remains unexplored. In the present study, foxh1-/- tilapia was created by CRISPR/Cas9. At 180 dah (days after hatching), the foxh1-/- XX fish showed oogenesis arrest and a significantly lower GSI. The transition of oocytes from phase II to phase III and follicle cells from one to two layers was blocked, resulting in infertility of th...
Source: Biology of Reproduction - Category: Reproduction Medicine Authors: Tags: Biol Reprod Source Type: research
Accelerated ovarian reserve depletion in female anti-Müllerian hormone knockout mice has no effect on lifetime fertility. Biol Reprod. 2019 Dec 14;: Authors: Guo R, Pankhurst MW Abstract Anti-Müllerian hormone (AMH) inhibits the activation of primordial follicles in the ovary. This causes an increased rate of ovarian reserve depletion in Amh-/- mice. The depletion of the ovarian reserve is responsible for the onset of menopause but age-related infertility occurs in advance of ovarian reserve depletion. To determine whether accelerated loss of primordial follicles leads to earlier onset infer...
Source: Biology of Reproduction - Category: Reproduction Medicine Authors: Tags: Biol Reprod Source Type: research
Abstract The diagnosis of cystic fibrosis (CF) has traditionally relied on the presence of clinical features of the disease. Today, diagnosis through newborn screening (NBS) is becoming the standard of modern CF care. CF NBS programs can identify CF prior to clinical presentation, but for the advantages of an early diagnosis to accrue a scrupulous system must be in place to ensure all steps in the program are performing. As we move rapidly into the era of CF transmembrane conductance regulator (CFTR) protein modulators, the opportunity to start a presymptomatic infant, identified through CF NBS, on these agents of...
Source: Respiratory Care - Category: Respiratory Medicine Authors: Tags: Semin Respir Crit Care Med Source Type: research
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