Congenital defects of phagocytes

2021 ◽  
pp. 155-217
Author(s):  
Nima Rezaei ◽  
Javad Ghaffari ◽  
Abbas Khalili ◽  
Abbas Dabbaghzadeh ◽  
Negar Ghaffari ◽  
...  
Keyword(s):  
Congenital Defects

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.

Versatility of the Posterior Interosseous Artery Flap: Emphasis on Powering Up the Toe Transfer

Hand ◽  
2021 ◽  
pp. 155894472110289
Author(s):  
GiJun Lee ◽  
BumSik Kim ◽  
Neunghan Jeon ◽  
JungSoo Yoon ◽  
Ki Yong Hong ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Upper Extremity ◽  
Reverse Flow ◽  
Donor Site ◽  
Congenital Defects ◽  
Soft Tissue Coverage ◽  
Posterior Interosseous Artery ◽  
Arterial Inflow ◽  
Pedicle Length ◽  
Interosseous Artery

Background: Reverse-flow posterior interosseous artery (rPIA) flap is an excellent tool for restoration of defects in the hand and upper extremity, sparing the main arteries to the hand. Its reliability has been well established. Materials and Methods: Fifty-one cases of rPIA flap involving 49 patients were retrospectively reviewed. The inclusion criteria were age, sex, etiology, size and location of the defect, flap size, number of perforators included, pedicle length, flap inset, donor site coverage, complications, and ancillary procedures. Results: This study included 44 men and 5 women, ranging in age between 10 and 73 years. The subjects had soft tissue defects of the hand and upper extremity mainly due to traumatic injuries, including scar contractures of the first web space in 18 cases, thumb amputations in 6 cases, and congenital defects in 1 case. Among the 51 rPIA flap elevations, 3 cases involved flap failure due to the absence of proper pedicle. A fasciocutaneous pattern was observed in 45 cases and a myocutaneous pattern in 3 cases. In 5 cases of unplantable thumb amputations, the rPIA flap was performed for arterial inflow to the secondary toe-to-thumb transfer. Venous congestion of varying degrees was noted in 7 cases involving partial necrosis in 2 cases. During the mean 17 months of follow-up, patients were generally satisfied with the final outcomes. Conclusion: The rPIA flap can be used not only for soft tissue coverage of the hand and upper extremity but also as a recipient arterial pedicle for a secondary toe-to thumb transfer.

scholarly journals Early-Life Exposure to Environmental Contaminants Perturbs the Sperm Epigenome and Induces Negative Pregnancy Outcomes for Three Generations via the Paternal Lineage

Epigenomes ◽  
2021 ◽  
Vol 5 (2) ◽  
pp. 10
Author(s):  
Clotilde Maurice ◽  
Mathieu Dalvai ◽  
Romain Lambrot ◽  
Astrid Deschênes ◽  
Marie-Pier Scott-Boyer ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Pregnancy Outcomes ◽  
Sperm Quality ◽  
The Arctic ◽  
Congenital Defects ◽  
Developmental Defects ◽  
Early Life Exposure ◽  
Sperm Dna ◽  
Inuit Population ◽  
Sperm Dna Methylation

Due to the grasshopper effect, the Arctic food chain in Canada is contaminated with persistent organic pollutants (POPs) of industrial origin, including polychlorinated biphenyls and organochlorine pesticides. Exposure to POPs may be a contributor to the greater incidence of poor fetal growth, placental abnormalities, stillbirths, congenital defects and shortened lifespan in the Inuit population compared to non-Aboriginal Canadians. Although maternal exposure to POPs is well established to harm pregnancy outcomes, paternal transmission of the effects of POPs is a possibility that has not been well investigated. We used a rat model to test the hypothesis that exposure to POPs during gestation and suckling leads to developmental defects that are transmitted to subsequent generations via the male lineage. Indeed, developmental exposure to an environmentally relevant Arctic POPs mixture impaired sperm quality and pregnancy outcomes across two subsequent, unexposed generations and altered sperm DNA methylation, some of which are also observed for two additional generations. Genes corresponding to the altered sperm methylome correspond to health problems encountered in the Inuit population. These findings demonstrate that the paternal methylome is sensitive to the environment and that some perturbations persist for at least two subsequent generations. In conclusion, although many factors influence health, paternal exposure to contaminants plays a heretofore-underappreciated role with sperm DNA methylation contributing to the molecular underpinnings involved.

scholarly journals Genetic Background of Congenital Erythrocytosis

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1151
Author(s):  
Mary Frances McMullin
Keyword(s):  
Receptor Gene ◽  
Cell Mass ◽  
Oxygen Affinity ◽  
Young Age ◽  
Erythropoietin Receptor ◽  
Congenital Defects ◽  
History Of ◽  
Genetic Mechanisms ◽  
High Oxygen Affinity ◽  
Hemoglobin Variants

True erythrocytosis is present when the red cell mass is greater than 125% of predicted sex and body mass, which is reflected by elevated hemoglobin and hematocrit. Erythrocytosis can be primary or secondary and congenital or acquired. Congenital defects are often found in those diagnosed at a young age and with a family history of erythrocytosis. Primary congenital defects mainly include mutations in the Erythropoietin receptor gene but SH2B3 has also been implicated. Secondary congenital erythrocytosis can arise through a variety of genetic mechanisms, including mutations in the genes in the oxygen sensing pathway, with high oxygen affinity hemoglobin variants and mutations in other genes such as BPMG, where ultimately the production of erythropoietin is increased, resulting in erythrocytosis. Recently, mutations in PIEZ01 have been associated with erythrocytosis. In many cases, a genetic variant cannot be identified, leaving a group of patients with the label idiopathic erythrocytosis who should be the subject of future investigations. The clinical course in congenital erythrocytosis is hard to evaluate as these are rare cases. However, some of these patients may well present at a young age and with sometimes catastrophic thromboembolic events. There is little evidence to guide the management of congenital erythrocytosis but the use of venesection and low dose aspirin should be considered.

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