scholarly journals Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review

2021 ◽  
Author(s):  
Natalia Velez‐Tirado ◽  
Marco Antonio Yamazaki‐Nakashimada ◽  
Enrique Lopez Valentín ◽  
Armando Partida‐Gaytan ◽  
Selma C Scheffler‐Mendoza ◽  
...  
Keyword(s):  
Literature Review ◽  
Case Series ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia

scholarly journals Severe Congenital Neutropenia Due To G6PC3 Deficiency Case Series of Five Patients and Literature Review

2021 ◽  
Author(s):  
Natalia Female Vélez-Tirado ◽  
Marco Antonio Yamazaki-Nakashimada ◽  
Enrique Lopez Valentín ◽  
Armando Partida-Gaytan ◽  
Selma C Scheffler-Mendoza ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Literature Review ◽  
Endoplasmic Reticulum Stress ◽  
Case Series ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
The Past ◽  
Genetic Features ◽  
Venous Pattern ◽  
Recurrent Pyogenic Infections

Abstract Glucose-6-phosphate catalytic subunit 3 (G6PC3) deficiency is characterized by severe congenital neutropenia with recurrent pyogenic infections, a prominent superficial venous pattern, and cardiovascular and urogenital malformations, caused by an alteration of glucose homeostasis, with increased endoplasmic reticulum stress and cell apoptosis. We describe five new cases from Mexico, and review 89 more patients reported in the past decade, to delineate the most frequent laboratory and genetic features, their treatment, and outcomes, and to expand the knowledge of syndromic and non-syndromic phenotypes in these patients.

scholarly journals Severe congenital neutropenia due to G6PC3 deficiency. Case series of five patients and literature review

2021 ◽  
Author(s):  
Natalia Velez-Tirado ◽  
Marco Antonio Yamazaki-Nakashimada ◽  
Enrique Lopez Valentín ◽  
Armando Partida-Gaytan ◽  
Selma C Scheffler-Mendoza ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Literature Review ◽  
Endoplasmic Reticulum Stress ◽  
Case Series ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
The Past ◽  
Genetic Features ◽  
Venous Pattern ◽  
Recurrent Pyogenic Infections

Abstract Glucose-6-phosphate catalytic subunit 3 (G6PC3) deficiency is characterized by severe congenital neutropenia with recurrent pyogenic infections, a prominent superficial venous pattern, and cardiovascular and urogenital malformations, caused by an alteration of glucose homeostasis, with increased endoplasmic reticulum stress and cell apoptosis. We describe five new cases from Mexico, and review 89 more patients reported in the past decade, to delineate the most frequent laboratory and genetic features, their treatment, and outcomes, and to expand the knowledge of syndromic and non-syndromic phenotypes in these patients.

Infrapopliteal Arterial Pseudoaneurysm Development Secondary to Blunt Trauma: Case Series and Literature Review

2020 ◽  
Vol 54 (4) ◽  
pp. 367-374
Author(s):  
Matthew T. Chrencik ◽  
Brian Caraballo ◽  
John Yokemick ◽  
Peter J. Pappas ◽  
Brajesh K. Lal ◽  
...  
Keyword(s):  
Literature Review ◽  
Blunt Trauma ◽  
Case Series ◽  
Duplex Ultrasound ◽  
Endovascular Coiling ◽  
Skeletal Trauma ◽  
Delay In Diagnosis ◽  
Tibial Arteries ◽  
Pulsatile Mass ◽  
Orthopedic Injuries

Objectives: Infrapopliteal arterial pseudoaneurysms (IAP) following blunt trauma with associated orthopedic injuries are uncommon, often present in a delayed fashion, and encompass a diagnostic and therapeutic dilemma. Herein, we present a series of IAPs that were diagnosed following blunt trauma and their management. Methods: Case series consisting of 3 patients and a review of the international literature. Results: Our case series included 3 patients presenting with IAPs following blunt trauma with associated orthopedic injuries. They were all identified in a delayed manner (>3 weeks) after the orthopedic injuries were treated. All patients presented with pain and a pulsatile mass while one concurrently had neurologic deficits. The pseudoaneurysms were diagnosed by duplex ultrasound and confirmed by angiography to be originating from the tibioperoneal trunk, anterior tibial, and posterior tibial arteries respectively. Two patients were treated with surgical excision. Of these, one required an arterial bypass procedure while the other underwent direct ligation only. The third patient was treated by endovascular coiling. A literature review from 1950 to the present found 51 reported cases of IAP resulting from blunt trauma. Ninety percent of trauma-related infrapopliteal injuries occurred in men with a mean delay in diagnosis of 5.6 months (median 1.8 months) after injury. Since 1950, management has shifted from primarily ligation to incorporating minimally invasive endovascular techniques when appropriate. Conclusions: Infrapopliteal artery pseudoaneurysms are rare following blunt skeletal trauma. A delay in diagnosis often occurs and can result in major morbidity and extensive surgical intervention. We recommend a high index of suspicion and a thorough vascular examination in patients with lower extremity skeletal trauma to help identify and treat these injuries early and effectively.

scholarly journals Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review

2020 ◽  
pp. 100417
Author(s):  
Atsuko Arisaka ◽  
Mitsuko Nakashima ◽  
Satoko Kumada ◽  
Kenji Inoue ◽  
Hiroya Nishida ◽  
...  
Keyword(s):  
Literature Review ◽  
Early Onset ◽  
Case Series ◽  
Epileptic Encephalopathy ◽  
Involuntary Movements
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