Congenital Defects, Malformation Syndromes and Skeletal Dysplasias

2001 ◽  
pp. 155-202
Author(s):  
Alessandro Castriota Scanderbeg ◽  
Bruno Dallapiccola
Keyword(s):  
Congenital Defects ◽  
Skeletal Dysplasias ◽  
Malformation Syndromes

Perinatal Postmortem Radiography

1986 ◽  
Vol 27 (5) ◽  
pp. 481-494 ◽  
Author(s):  
U. Seppänen
Keyword(s):  
Autosomal Recessive ◽  
Congenital Defects ◽  
Unknown Aetiology ◽  
Radiologic Findings ◽  
Heterogeneous Nature ◽  
Multiple Malformation ◽  
Radiologic Investigation ◽  
Malformation Syndromes ◽  
Tissue Abnormalities ◽  
Skeletal Findings

Despite the heterogeneous nature of congenital defects, an increasing number of aetiologically specific entities are being delineated, which is partly due to the increasing use of radiology. Data concerning the aetiology are especially important to the parents, who need information on the risk of recurrence for future pregnancies. During 1980–1982 a postmortem radiologic investigation was carried out on 514 perinatally dead infants from 22 hospitals in Finland. Pathologic radiologic findings were seen in 30 per cent of the material. Ninety-nine cases had congenital defects, while the rest showed other skeletal or soft tissue abnormalities. Of those with congenital defects, there were 6 osteochondrodysplasias, 16 chromosomal malformation syndromes, 13 autosomal recessive inherited malformation syndromes and 18 multiple malformation syndromes of unknown aetiology. There were also 18 cases with malformation sequences and 10 single malformations with abnormal radiologic findings. Congenital defects due to disruptions were detected in 12 cases and defects due to deformations in 7. The present article includes a review of the radiologic findings in 514 cases, with special reference to the skeletal findings.

scholarly journals Analysis of tracheotomy indications in children treated in the Department of Pediatric Otolaryngology of Medical University of Warsaw between 2015-2020

New Medicine ◽  
2020 ◽  
Vol 24 (2) ◽  
Author(s):  
Małgorzata Chromniak ◽  
Maria Koziołek ◽  
Katarzyna Pawlik ◽  
Monika Jabłońska-Jesionowska ◽  
Lidia Zawadzka-Głos
Keyword(s):  
Autoimmune Diseases ◽  
Congenital Malformation ◽  
Vocal Folds ◽  
Congenital Defects ◽  
Perinatal Complications ◽  
Airway Patency ◽  
Pediatric Otolaryngology ◽  
Post Intubation ◽  
Malformation Syndromes ◽  
Medical University

Introduction. Tracheostomy is the opening enabling breathing without the larynx, throat and mouth, which aims to restore and sustain airway patency. Indications of this intervention have changed over the years. The selection of patients for this procedure, as well as the moment, when it has to be performed are still not clearly defined. Those require a multidisciplinary approach and a standardized protocol. More analyses are necessary to create widely available guidelines. Aim. Analysis of tracheotomy indications in children performed between 2015-2020 in the Department of Pediatric Otolaryngology, Medical University of Warsaw. Material and methods. During the 5-year period (2015-beginning of 2020) 64 children with tracheostomy were treated in the Department of Pediatric Otolaryngology. Groups of tracheotomy indications were separated after a retrospective overview of the 64 cases from our clinic and after manual and electronic search through medical databases for indications for tracheotomy in previous years. Then patient’s data (age at the time of surgery, concomitant diseases and/or disabilities) was collated, which allowed to present the characteristics of children and compare the tracheotomy indications in previous years with the results of this research. Results. Tracheotomy was performed among 64 children. The median patients’ age was 0.5 year and the average age was 4.26 years. Our patients were affected by many various conditions. We divided them into 8 main groups: congenital malformation syndromes, trauma, vocal folds palsy, perinatal complications, infection, autoimmune diseases, oncological and post-intubation subglottic stenosis. Currently, congenital malformation syndromes turned out to be the most common indication for tracheotomy. Conclusions. 1. Tracheotomy indications in children have changed over the years. 2. There is increasing number of tracheotomies due to various congenital defects. 3. New groups of tracheotomy indications among children are autoimmune diseases and injuries; those groups have the highest average of age. 4. The result of effective pharmacological treatment of laryngeal hemangiomas is the lack of tracheotomy performed in this indication. 5. The number of tracheotomies performed due to post-intubation stenosis has decreased. 6. Vocal cords palsy as an indication for tracheotomy in children is most often a complication of cardiac surgery due to congenital heart defect; this group of patient’s is the youngest among all. 7. Viral infections are still the tracheotomy indication among children.

Congenital defects: An evaluation and assessment of the state of the science

1981 ◽  
Author(s):  
Allen S. Goldman ◽  
James W. Lash ◽  
Delbert Dayton ◽  
Daniel Nebert
Keyword(s):  
The State ◽  
Congenital Defects ◽  
State Of The Science ◽  
Evaluation And Assessment

Deficiency of (33P)2MeS-ADP Binding Sites on Platelets with Secretion Defect, Normal Granule Stores and Normal Thromboxane A2 Production

1997 ◽  
Vol 77 (05) ◽  
pp. 0986-0990 ◽  
Author(s):  
Marco Cattaneo ◽  
Rossana Lombardi ◽  
Maddalena L Zighetti ◽  
Christian Gachet ◽  
Philippe Ohlmann ◽  
...  
Keyword(s):  
Binding Sites ◽  
Specific Binding ◽  
Thromboxane A2 ◽  
Normal Subjects ◽  
Congenital Defects ◽  
Normal Production ◽  
Adp Receptor ◽  
Partial Deficiency ◽  
Induced Aggregation ◽  
Platelet Secretion

SummaryBy the term “Primary Secretion Defect” (PSD), we mean a common heterogeneous group of congenital defects of platelet secretion, characterized by a normal primary wave of platelet aggregation induced by ADP and other agonists, a normal concentration of platelet granule contents, and normal production of thromboxane A2. The biochemical abnormalities responsible for PSD are not well known. Since a secretion defect similar to PSD is found in platelets that are severely deficient of binding sites for the ADP analogue 2MeS-ADP and do not aggregate in response to ADP, we tested the hypothesis that PSD platelets have moderately decreased 2MeS-ADP binding sites, which may be sufficient for normal ADP-induced aggregation but not for potentiating platelet secretion. The specific binding of [33P]2MeS-ADP to platelets from 3 PSD patients (347,443 and 490 sites/platelet; KD 2.8-3.9 nM) was lower than to platelets from 24 normal subjects (647 [530-1102]; KD = 3.8 [2.3-7.3]) (median [range]). Normal values were found in a fourth PSD patient (710; KD 3.7). The degree of inhibition of PGE1- induced cAMP increase by 0.1 |μM ADP was lower in patients than in controls. The secretion induced by the endoperoxide analogue U46619 from normal, acetylsalicylic acid-treated platelets under conditions that prevented the formation of large aggregates was potentiated by 1 fimol/1 ADP and inhibited by apyrase. These findings indicate that a partial deficiency of the platelet ADP receptor(s) might be responsible for the defect of platelet secretion in some PSD patients and that ADP potentiates platelet secretion independently of the formation of large aggregates and thromboxane A2 production.

Percutaneous Treatment of Congenital Defects of the Inter-atrial Septum in Adults – Recent Advances and Persistent Pitfalls

2009 ◽  
Vol 4 (1) ◽  
pp. 76
Author(s):  
James Slater ◽  
Mark Fisch ◽  
◽  
Keyword(s):  
Atrial Septal Defect ◽  
Adult Patient ◽  
Patent Foramen Ovale ◽  
Septal Defect ◽  
Percutaneous Treatment ◽  
Atrial Septum ◽  
Congenital Defects ◽  
Foramen Ovale ◽  
Anatomy And Physiology ◽  
Specific Tissue

William Harvey was the first scientist to describe the heart as consisting of separate right- and left-sided circulations. Our understanding of the heart’s anatomy and physiology has grown significantly since this landmark discovery in 1628. Today, we recognise not only the importance of these separate systems, but also the specific tissue that divides them. Our growing understanding of the inter-atrial septum has allowed us to identify defects within this structure and develop effective percutaneous devices for closure of these defects in the adult patient. This article discusses the formation of a patent foramen ovale (PFO) and atrial septal defect (ASD). In addition, we describe the medical illnesses caused by these defects and summarise the indications and risks related to percutaneous closure of these defects. We also report the most up-to-date transcatheter therapeutic options for closure of these common congenital defects in the adult patient.

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