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BMC Medical Genetics Mar 2020Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein...
BACKGROUND
Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies PTPN11 is one of the genes with a significant number of pathogenic variants in NS-affected patients. Therefore, clinically diagnosed NS individuals are initially tested for pathogenic variants in PTPN11 gene to confirm the relationship before studying genotype-phenotype correlation.
METHODS
Individuals (363) with clinically diagnosed NS from four hospitals in South India were recruited and the exons of PTPN11 gene were sequenced.
RESULTS
Thirty-two previously described pathogenic variants in eight different exons in PTPN11 gene were detected in 107 patients, of whom 10 were familial cases. Exons 3, 8 and 13 had the highest number of pathogenic variants. The most commonly identified pathogenic variants in this series were in exon 8 (c.922A > G, c.923A > G), observed in 22 of the affected. Congenital cardiac anomalies were present in 84% of the mutation-positive cohort, the majority being defects in the right side of the heart. The most common facial features were downward-slanting palpebral fissures, hypertelorism and low-set posteriorly rotated ears. Other clinical features included short stature (40%), pectus excavatum (54%) and, in males, unilateral or bilateral cryptorchidism (44%).
CONCLUSION
The clinical features and mutational spectrum observed in our cohort are similar to those reported in other large studies done worldwide. This is the largest case series of NS-affected individuals with PTPN11 mutations described till date from India.
Topics: Adolescent; Adult; Child; Child, Preschool; Cohort Studies; DNA Mutational Analysis; Family; Female; Genetic Association Studies; Genetic Predisposition to Disease; Germ-Line Mutation; Heart Defects, Congenital; Humans; India; Infant; Infant, Newborn; Male; Noonan Syndrome; Phenotype; Polymorphism, Single Nucleotide; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Young Adult
PubMed: 32164556
DOI: 10.1186/s12881-020-0986-5 -
Annals of Medicine and Surgery (2012) Oct 2022The mediastinum forms the central part of the thoracic cavity that is surrounded by pleural space on the two sides, thoracic vertebrae at the posterior, thoracic inlet... (Review)
Review
The mediastinum forms the central part of the thoracic cavity that is surrounded by pleural space on the two sides, thoracic vertebrae at the posterior, thoracic inlet on the top, and diaphragm at the bottom. It encompasses cardiopulmonary organs and organ systems. Pathological dysfunction or deformity in any part of the mediastinum can have adverse cardiovascular and respqiratory effects. Pectus excavatum and pectus carinatum are the most common congenital chest deformities that are characterized by sternal depression and protuberance of the sternum, respectively. Together, these account for 90% of chest wall deformities. Patients are known to be represented with respiratory distress and cardiovascular dysfunction. The aim of the review article is to present the anatomical and physiological role of the mediastinum in association with important parts of the thoracic cavity and pathological dysfunction of the mediastinum (cardiopulmonary system) due to pectus excavatum and pectus carinatum.
PubMed: 36268434
DOI: 10.1016/j.amsu.2022.104670 -
Ugeskrift For Laeger Nov 2022This is a case report of an observation of bradycardia and inverted T-waves anteroseptally on the electrocardiogram along with cardiac symptoms, in a previously healthy...
This is a case report of an observation of bradycardia and inverted T-waves anteroseptally on the electrocardiogram along with cardiac symptoms, in a previously healthy 35-year-old woman with post-partum pre-eclampsia. Initially, she had no hypertension or proteinuria, which delayed the time of diagnosis. A possible explanation of bradycardia is a baroreceptor-mediated response to hypertension and hypervolaemia. The changes on the electrocardiogram can be explained by pectus excavatum, an enlarged uterus and endothelial dysfunction. One should always consider peri-partum as well as post-partum pre-eclampsia.
Topics: Pregnancy; Female; Humans; Adult; Pre-Eclampsia; Bradycardia; Proteinuria; Hypertension; Chest Pain
PubMed: 36345902
DOI: No ID Found -
Sudanese Journal of Paediatrics 2022
PubMed: 35958070
DOI: 10.24911/SJP.106-1594635995 -
Turk Gogus Kalp Damar Cerrahisi Dergisi Oct 2021Minimally invasive repair of pectus excavatum (Nuss) operation is the current choice of surgical treatment for pectus excavatum deformities. Technical pitfalls arise in...
Minimally invasive repair of pectus excavatum (Nuss) operation is the current choice of surgical treatment for pectus excavatum deformities. Technical pitfalls arise in patients with previous thoracic and/or cardiac surgical interventions, due to severe intrathoracic fibrous adhesions. Herein, we describe an original modification technique in a patient with bilateral apical wedge resection and total pleurectomy due to recurrent spontaneous pneumothorax episodes within the past two years. Correction was performed by opening the pleura bilaterally and retrosternal release with digital palpation via a subxiphoid incision, to help to guide the introducer and the pectus bar, without a videothoracoscopic visualization.
PubMed: 35096458
DOI: 10.5606/tgkdc.dergisi.2021.21092 -
Turk Gogus Kalp Damar Cerrahisi Dergisi Jan 2024Chest wall deformities are congenital disorders characterized by abnormal development and appearance of the thoracic wall. The most common form is the pectus excavatum... (Review)
Review
Chest wall deformities are congenital disorders characterized by abnormal development and appearance of the thoracic wall. The most common form is the pectus excavatum deformity, known as shoemaker's chest. Pectus carinatum, known as pigeon chest, is the second most common deformity. In general, most patients are asymptomatic, but cardiopulmonary problems may accompany the disease. The indication for treatment is mostly cosmetic. Treating patients before they reach adulthood increases the chance of success. Surgical treatment can be open or minimally invasive.
PubMed: 38584783
DOI: 10.5606/tgkdc.dergisi.2024.25899 -
Translational Pediatrics Aug 2023
PubMed: 37692546
DOI: 10.21037/tp-23-264