Capsule endoscopy findings in congenital afibrinogenemia-associated angiopathy

VASA ◽  
2008 ◽  
Vol 37 (4) ◽  
pp. 383-385 ◽  
Author(s):  
Katsinelos ◽  
Vasiliadis ◽  
Soufleris ◽  
Chatzimavroudis ◽  
Zavos ◽  
...  
Keyword(s):  
Arterial Hypertension ◽  
Capsule Endoscopy ◽  
Intestinal Ischemia ◽  
Genetic Disorder ◽  
Rare Genetic Disorder ◽  
Unusual Condition ◽  
Congenital Afibrinogenemia ◽  
Abdominal Arteries ◽  
First Time

Congenital afibrinogenemia is a rare genetic disorder characterized by the complete absence of functional fibrinogen. We report a 22-year-old female who developed nephrogenic arterial hypertension and intestinal ischemia due to congenital afibrinogenemia-associated angiopathy of large abdominal arteries. We describe, for the first time, the capsule findings and discuss the pathophysiology of this unusual condition.

Laron syndrome – A case Report

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Genetic Disorder ◽  
Female Child ◽  
Receptor Signaling ◽  
Laron Syndrome ◽  
Rare Genetic Disorder ◽  
Igf I

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  

Anesthesia in Carvajal syndrome; the first case report

2020 ◽  
Vol 24 (1) ◽  
pp. 105-107
Author(s):  
Sedighe Shahhosseini ◽  
Reza Aminnejad ◽  
Amir Shafa ◽  
Mehrdad Memarzade
Keyword(s):  
Intensive Care ◽  
Case Report ◽  
Surgical Resection ◽  
Genetic Disorder ◽  
Anesthetic Technique ◽  
Close Monitoring ◽  
Anesthesia Management ◽  
Rare Genetic Disorder ◽  
First Case ◽  
Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

scholarly journals Pitt–Hopkins syndrome with electrical stat us epileptic us in slo w-wave sleep: a case report

2019 ◽  
Vol 14 (2) ◽  
pp. 42-48
Author(s):  
N. G. Lyukshina
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Neuronal Differentiation ◽  
Clinical Case ◽  
Genetic Disorder ◽  
Facial Dysmorphism ◽  
Autistic Behavior ◽  
Rare Genetic Disorder ◽  
Molecular Variant

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.

scholarly journals Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation

2019 ◽  
Vol 9 (4) ◽  
Author(s):  
Veronica Arora ◽  
Sunita Bijarnia-Mahay ◽  
Samarth Kulshreshtra ◽  
Kanika Singh ◽  
Ratna Dua Puri ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Rare Genetic Disorder ◽  
Molecular Correlation

scholarly journals Role of video capsule endoscopy in patients with constitutional mismatch repair deficiency (CMMRD) syndrome: report from the International CMMRD Consortium

2018 ◽  
Vol 06 (08) ◽  
pp. E1037-E1043 ◽  
Author(s):  
Y. Shimamura ◽  
C. M. Walsh ◽  
S. Cohen ◽  
M. Aronson ◽  
U. Tabori ◽  
...  
Keyword(s):  
Small Bowel ◽  
Mismatch Repair ◽  
Capsule Endoscopy ◽  
Genetic Disorder ◽  
Early Adulthood ◽  
Video Capsule Endoscopy ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Report Data ◽  
Constitutional Mismatch Repair Deficiency

Abstract Background and study aims Constitutional mismatch repair deficiency (CMMRD) syndrome, also known as biallelic mismatch repair deficiency (BMMRD) syndrome is a rare autosomal-recessive genetic disorder that has a high mortality due to malignancy in childhood and early adulthood. The small bowel phenotype in CMMRD is not well described and surveillance protocols for small bowel cancer have not been well established. This study was conducted to evaluate the usefulness and clinical impact of video capsule endoscopy (VCE) for small bowel surveillance. Patients and methods We retrospectively reviewed the prospectively maintained International CMMRD Consortium database. Treating physicians were contacted and VCE report data were extracted using a standardized template. Results Among 58 patients included in the database, 38 VCE reports were collected from 17 patients. Polypoid lesions were first detected on VCE at a median age of 14 years (range: 4 – 17). Of these, 39 % in 7 patients (15/38) showed large polypoid lesions (> 10 mm) or multiple polyps that prompted further investigations. Consequently, three patients were diagnosed with small bowel neoplasia including one patient with adenocarcinoma. Small bowel neoplasia and/or cancer were confirmed histologically in 35 % of the patients (6/17) who had capsule surveillance and the lesions in half of these patients were initially visualized on VCE. Multiple polyps were identified on eight VCEs that were completed on three patients. Ten VCEs (28 %) were incomplete due to slow bowel transit; none required capsule removal. Conclusions Small bowel surveillance in patients with CMMRD should be initiated early in life. VCE has the potential to detect polyps; however, small bowel neoplasias are often proximal and can be missed, emphasizing the importance of concurrent surveillance with other modalities. Meeting presentations Digestive Disease Week 2017 and World Congress of Pediatric Gastroenterology, Hepatology and Nutrition 2016.

scholarly journals Performance measures for small-bowel endoscopy: a European Society of Gastrointestinal Endoscopy (ESGE) Quality Improvement Initiative

Endoscopy ◽  
2019 ◽  
Vol 51 (06) ◽  
pp. 574-598 ◽  
Author(s):  
Cristiano Spada ◽  
Deirdre McNamara ◽  
Edward J. Despott ◽  
Samuel Adler ◽  
Brooks D. Cash ◽  
...  
Keyword(s):  
Quality Improvement ◽  
Small Bowel ◽  
Performance Measures ◽  
Capsule Endoscopy ◽  
European Society ◽  
Gastrointestinal Endoscopy ◽  
Quality Improvement Initiative ◽  
Upper Gastrointestinal Endoscopy ◽  
Small Bowel Endoscopy ◽  
First Time

AbstractThe European Society of Gastrointestinal Endoscopy (ESGE) together with the United European Gastroenterology (UEG) recently developed a short list of performance measures for small-bowel endoscopy (i. e. small-bowel capsule endoscopy and device-assisted enteroscopy) with the final goal of providing endoscopy services across Europe with a tool for quality improvement. Six key performance measures for both small-bowel capsule endoscopy and for device-assisted enteroscopy were selected for inclusion, with the intention being that practice at both a service and endoscopist level should be evaluated against them. Other performance measures were considered to be less relevant, based on an assessment of their overall importance, scientific acceptability, and feasibility. Unlike lower and upper gastrointestinal endoscopy, where performance measures had already been identified, this is the first time that small-bowel endoscopy quality measures have been proposed.

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