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Disorders of the respiratory system
Published in Judy Bothamley, Maureen Boyle, Medical Conditions Affecting Pregnancy and Childbirth, 2020
Cystic fibrosis is caused by a faulty gene on chromosome 7 called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene contains the information cells need to make an important protein that regulates the transfer of sodium (salt) across cell membranes in certain glandular cells in the body. Those with cystic fibrosis have faulty copies of both the CFTR genes inherited from their parents and therefore produce a protein that doesn’t function correctly. As a result, transport across the cell membrane is altered and secretions such as sweat and pancreatic juice are very salty and abnormally thick, and clearance of these secretions from the respiratory system and normal digestion are compromised41. Table 5.3 summarises the impact of cystic fibrosis on body systems and the concerns these may cause in pregnancy. It is important to note that women will experience differing degrees of symptoms of cystic fibrosis due to variation in mutation and therapeutic interventions, as well as the severity of their individual disease.
The Mouse Skin as a Model for Chemical Carcinogenesis
Published in John P. Sundberg, Handbook of Mouse Mutations with Skin and Hair Abnormalities, 2020
Alterations of Chromosome 7 have been thoroughly studied in our laboratory (Figure 3). The H-rαs gene, known to be mutated in these tumors, has been mapped to this chromosome.17 Quantitative hybridization studies have shown that trisomy of Chromosome 7 occurs by duplication of the chromosome carrying the mutated ras allele, resulting in overdosage of the mutated ras gene. A correlation between the number of copies of the mutated ras and the degree of aggressiveness of the tumor was reported.45 A more detailed study of allelic losses in this chromosome showed that loss of heterozygosity (LOH) involves other loci and seems to be caused by mitotic recombination. It is postulated that allelic losses in this chromosome are reflecting the loss of a tumor suppressor gene located in this chromosomal region.46,47 The murine Chromosome 7F-ter is syntenic with human 11p15 and 11q13 where the presence of tumor suppressor genes has been postulated. Consistent with this hypothesis, unpublished results from our laboratory showed that microtransfection of a human Chromosome 11 into cell lines derived from mouse chemically induced SCC results in suppressed or decreased tumorigenicity.
Disorders of the respiratory system
Published in Judy Bothamley, Maureen Boyle, Medical Conditions Affecting Pregnancy and Childbirth, 2020
Cystic fibrosis is caused by a faulty gene on chromosome 7 called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene contains the information cells needed to make an important protein that regulates the transfer of sodium (salt) across cell membranes in certain glandular cells in the body. Those with cystic fibrosis have faulty copies of both the CFTR genes inherited from their parents and therefore cannot produce this vital protein. As a result, transport across the cell membrane is altered and secretions such as sweat and pancreatic juice are very salty and abnormally thick. Thickened mucus in the lungs causes respiratory difficulties and there is incomplete digestion of food and increased salt loss from sweat glands (Thibodeau and Patton, 2007). Table 6.2 summarises the impact of cystic fibrosis on body systems and the concerns these may cause in pregnancy. It is important to note that women will experience differing degrees of symptoms of cystic fibrosis due to variation in mutation and therapeutic interventions (Turner, et al., 2005).
Nitric oxide pathway as a plausible therapeutic target in autism spectrum disorders
Published in Expert Opinion on Therapeutic Targets, 2022
Rishab Mehta, Anurag Kuhad, Ranjana Bhandari
The human leukocyte antigen (HLA) gene on chromosome 6 and killer cell immunoglobulin-like receptor (KIR) gene on chromosome 19 are reported to be associated with an enhanced risk of developing ASD [40]. A chromosome 15 phenotype has been identified having an altered sequence of the 15q11-15q13 region thus, causing cytogenetic abnormalities characterized by dysmorphic facial features, mental retardation, epilepsy, language delay, and repetitive movements [41,42]. The RELN gene found in the 7q22 region of chromosome 7 is suspected to be associated with neuronal migration and prenatal neuronal development [43]. The polymorphism of the MET gene found in 7q31 is known to affect the development of the cerebellum and cerebral cortex [44]. Various evidence-based studies suggest that disrupted MET signaling also leads to gastrointestinal dysfunction [45]. Alterations in chromosome 16 and chromosome 2 are also predicted to play a part in the occurrence of mental retardation, gastrointestinal alterations, and CNS disorders in patients with ASDs [6].
The potential of volatile organic compound analysis for pathogen detection and disease monitoring in patients with cystic fibrosis
Published in Expert Review of Respiratory Medicine, 2022
Anton Barucha, Renan M. Mauch, Franziska Duckstein, Carlos Zagoya, Jochen G. Mainz
Cystic fibrosis (CF) is the most frequent inherited, life-threatening disease in Caucasians, caused by autosomal recessive mutations in the CF Transmembrane Conductance Regulator (CFTR) gene, located in the long arm of chromosome 7. At present, more than 2,000 mutations are known, out of which approximately 350 have been shown to cause CF [1]. The basic defect in CF is an absent or defective CFTR protein, a chloride channel expressed in the apical membrane of epithelial cells, impairing the transport of epithelial fluids, and leading to multi-organ manifestations. Lung disease is the main cause of premature death in 90% of people with CF (pwCF) [2]. Viscous secretions that impair mucociliary clearance make pwCF highly susceptible to pulmonary infections which, in early stages of CF, are predominantly caused by Staphylococcus (S.) aureus or Haemophilus (H.) influenzae. In the long run, up to 70% of pwCF will develop chronic airway infection with Pseudomonas (P.) aeruginosa, which contributes relevantly to inflammation and pulmonary destruction.
Lacrimal drainage system anomalies in Williams-Beuren syndrome
Published in Orbit, 2021
The article confirms to the Tenets of Declaration of Helsinki. Parent consent to publish was obtained. The facial images were in addition cropped in a way to depict only what is needed and protect the privacy of the patient. Williams-Beuren (WB) syndrome or simply Williams syndrome is a rare genetic disorder affecting 1:10000 to 1:20000 live-births.1,2 The disorder is secondary to contiguous gene deletion in a specific region of chromosome 7, called as the Williams-Beuren syndrome chromosome region (7q11.23).1–5 The deletion is sporadic in all cases. Clinical features along with genetic analysis using fluorescent in-situ hybridization (FISH) techniques are essential for the diagnosis.1–5 The WB syndrome affects numerous systems including connective tissue, cardiovascular, nervous, endocrine, genitourinary and musculoskeletal systems. Common systemic manifestations include dysmorphic facies, intellectual disabilities, typical cognitive profile, supravalvular aortic stenoses, intracardiac lesions, glucose intolerance, gastroesophageal reflux.1–5 Common ophthalmic manifestations include refractive errors, strabismus, reduced stereopsis, stellate iris and tortuous retinal vessels.3–9 Lacrimal drainage anomalies are rarely described with no further details of those reported patients.3–5 The present case describes multiple lacrimal drainage anomalies in a child with Williams-Beuren syndrome.