Skip to main content

A Case Series of Congenital Alveolar Capillary Dysplasia with New Associations and Literature Review | Chapter 14 | New Horizons in Medicine and Medical Research Vol. 6

 During a seven-year span, we report six cases of autopsy-proven (unrestricted) ACD-MPV from a single institution (January 2007 to January 2013). Congenital Alveolar capillary dysplasia with pulmonary vein misalignment (ACD-MPV) is a rare and fatal cause of infant respiratory failure and severe hypoxia caused by chronic pulmonary hypertension (PPHN). All typical medical treatments, including as high-frequency ventilation (HFV), inspired nitric oxide (iNO), and extracorporeal membrane oxygenation (ECMO), are ineffective (ECMO). It is caused by a heterozygous mutation in the FOXF1 gene on chromosome 16q24, according to the Online Mendelian Inheritance in Man (OMIM). A new study suggests that two more genes, ESRP1 and PLXNB2, can cause (ESRP1) or modify (PLXNB2) the ACDMPV phenotype. The majority of ACD-MPV cases had several non-lethal congenital abnormalities. Pediatric pathologists from two different university hospitals read and confirmed the pathology slides. An relationship with previously undescribed congenital abnormalities and a sibling with congenital alveolar dysplasia without capillary dysplasia are among the novel results. All of the patients presented with severe hypoxemia with PPHN verified by an echocardiography (Echo). After the newborns have been subjected to a high level of intensive care, the vast majority of ACDMPV cases are still diagnosed by autopsy. When ECMO fails, ACD-MPV should be investigated as a diagnostic option.



Author(S) Details

R. R. Nandyal
Department of Pediatrics, Neonatology Section, Oklahoma University Health Sciences Center (OUHSC), USA.

D. Parham
Department of Anatomic Pathology, University of Southern California (USC), Los Angeles, CA, USA.

Z. Yu
Department of Pathology, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, OK, USA.

M. Escobedo
Department of Pediatrics, Neonatology Section, Oklahoma University Health Sciences Center (OUHSC), USA.

View Book:- https://stm.bookpi.org/NHMMR-V6/article/view/6445

Labels:

Comments

Post a Comment

Popular posts from this blog

Greening Regional Airports: A Vision for Carbon Neutral Infrastructure | Chapter 12 | Contemporary Perspective on Science, Technology and Research Vol. 3

 This study provides an overview of the energy demand of a regional airport, divided into individual time horizons. The electrification of aircraft systems raises the question of whether airports will be among the largest electricity consumers in our infrastructure in the future. Sustainability and especially emission reductions are significant challenges for airports that are currently being addressed. The Clean Sky 2 project GENESIS addresses the environmental sustainability of hybrid-electric 50-passenger aircraft systems in a life cycle perspective to support the development of a technology roadmap for the transition to sustainable and competitive electric aircraft systems. This article originates from the GENESIS research and describes various options for ground power supply at a regional airport. Potential solutions for airport infrastructure with a short (2030), medium (2040), and long (2050) time horizon are proposed. In addition to the environmental and conservation benefi...
Post a Comment
Read more

There is No Standard Model of ZFC and ZFC2 | Chapter 03 | Advances in Mathematics and Computer Science Vol. 1

In this Chapter we obtain a contradictions in formal set theories under assumption that these theories have omega-models or nonstandard model with standard part. An possible generalization of Lob’s theorem is considered. Main results are: (i) ¬Con(ZF C+ ∃ M ZFC st ), (ii) ¬Con(N F+ ∃ M NF st ), (iii) ¬Con(ZF C 2 ), (iv) let k be an inaccessible cardinal then ¬Con(ZF C+ ∃ κ), (v) ¬Con(ZF C+ (V=L)), (vi) ¬Con(ZF+ (V=L)). Author   Details: Jaykov Foukzon Israel Institute of Technology, Haifa, Israel Men'kova Elena Romanovna All-Russian Research Institute for Optical and Physical Measurements, Moscow, Russia Read full article: http://bp.bookpi.org/index.php/bpi/catalog/view/46/221/408-1 View Volume: https://doi.org/10.9734/bpi/amacs/v1
Post a Comment
Read more

Occipital Dermal Sinus Tract Causing Craniospinal Infection: A Review | Chapter 13 | New Visions in Medicine and Medical Science Vol. 4

  Dermal sinus is a rare congenital condition characterized by a pathological tract connecting the skin to deeper tissues of the central nervous system, potentially leading to severe infectious complications. It arises from a failure in the separation of ectodermal layers during early gestation. Diagnosing dermal sinus tract in newborns requires a careful physical examination, focusing on midline dimples in the occipital region associated with cutaneous abnormalities like hairy nevus or hyperpigmentation. The presence of drainage, abnormal hair distribution, or localized swelling may indicate a sinus tract. Regular examination for dimples or sinuses is recommended for infants and children with recurrent meningitis or infections. Early detection is crucial to prevent severe complications like meningitis, with Staphylococcus aureus being a common causative organism. Neuroradiological studies, including computed tomography (CT) scan and magnetic resonance imaging (MRI), with histopath...
Post a Comment
Read more