Enteric anendocrinosis attributable to a novel Neurogenin-3 variant

Azab, Belal; Dardas, Zain; Rabab’h, Omar; Srour, Luma; Telfah, Hussam; Hatmal, Ma’mon M.; Mustafa, Lina; Rashdan, Lana; Altamimi, Eyad

doi:10.1016/j.ejmg.2020.103981

Cited by 5 publications

(4 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Bu grubun ender bir sebebi olan enterik anendokrinozis, NEUROG3 genindeki kalıtsal defektlere bağlı barsakta enteroendokrin hücrelerin belirgin azalması ile karakterizedir. NEUROG3 defekti aynı zamanda pankreas endokrin hücrelerini de etkiler (5). Hastalarda diyabet, pankreas endokrin hücrelerinin etkilenmesine bağlı yenidoğan dönemi de dahil olmak üzere bebeklik veya çocukluk çağında herhangi bir yaşta ortaya çıkabilir (5).…”

Section: Discussionunclassified

See 1 more Smart Citation

Kateter Enfeksiyonlarına Alternatif Çözüm: Kilit Tedavisi

Tabakçı¹

2020

jchild

View full text Add to dashboard Cite

Uzun süreli kalıcı kateter kullanımının en önemli komplikasyonu kateter enfeksiyonlarıdır. Infectious Diseases Society of America (IDSA) koagülaz negatif stafilokok, S.aureus ve gram (-) ilişkili kateter enfeksiyonlarında kateter değişimi mümkün değilse sistemik tedavi ve kateter kilit tedavisinin birlikte verilmesini; fungal enfeksiyonlarda ise kateterin değişimini önermektedir. Ancak kısa barsak sendromu, konjenital diare bozuklukları gibi özel hasta gruplarında Candida ilişkili kateter enfeksiyonları sık görülmektedir. Bu durum sürekli kateter değişimleri ve komplikasyonlarına neden olmakta, hastanelerde büyük maliyet kaybı oluşturmaktadır. Burada NEUROG3 gen defekti, konjenital intestinal malabsorbsiyon sendromu tanılı yaşamını parenteral nutrisyon ile idame ettiren iki yıl dokuz aylık kız hastada liposomal amfoterisin B kilit ve sistemik tedavisi uygulanarak C. glabrata ilişkili kateter enfeksiyonunun tedavi edildiği başarılı bir olgu sunulmuştur.

show abstract

Section: Discussionunclassified

“…NEUROG3 defekti aynı zamanda pankreas endokrin hücrelerini de etkiler (5). Hastalarda diyabet, pankreas endokrin hücrelerinin etkilenmesine bağlı yenidoğan dönemi de dahil olmak üzere bebeklik veya çocukluk çağında herhangi bir yaşta ortaya çıkabilir (5). Hastalar ömür boyu parenteral nutrisyona ihtiyaç duyar.…”

Section: Discussionunclassified

Kateter Enfeksiyonlarına Alternatif Çözüm: Kilit Tedavisi

Tabakçı¹

2020

jchild

View full text Add to dashboard Cite

show abstract

“…DNA was extracted from blood samples using QIAprep Spin Mini-prep Kit according to the manufacturer’s instructions. Whole-exome sequencing (WES) was performed as previously described by Azab et al [ 16 ]. Briefly, WES was conducted using the Illumina NovaSeq platform.…”

Section: Methodsmentioning

confidence: 99%

Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn’s Disease-like Presentation: Genotype-Phenotype Correlation Study

Azab

Rabab’h

Aburizeg

et al. 2022

Genes

Self Cite

View full text Add to dashboard Cite

Niemann–Pick disease type C (NPC) is an autosomal recessive neurovisceral disease characterized by progressive neurodegeneration with variable involvement of multisystemic abnormalities. Crohn’s disease (CD) is an inflammatory bowel disease (IBD) with a multifactorial etiology influenced by variants in NOD2. Here, we investigated a patient with plausible multisystemic overlapping manifestations of both NPC and CD. Her initial hospitalization was due to a prolonged fever and non-bloody diarrhea. A few months later, she presented with recurrent skin tags and anal fissures. Later, her neurological and pulmonary systems progressively deteriorated, leading to her death at the age of three and a half years. Differential diagnosis of her disease encompassed a battery of clinical testing and genetic investigations. The patient’s clinical diagnosis was inconclusive. Specifically, the histopathological findings were directed towards an IBD disease. Nevertheless, the diagnosis of IBD was not consistent with the patient’s subsequent neurological and pulmonary deterioration. Consequently, we utilized a genetic analysis approach to guide the diagnosis of this vague condition. Our phenotype–genotype association attempts led to the identification of candidate disease-causing variants in both NOD2 and NPC1. In this study, we propose a potential composite digenic impact of these two genes as the underlying molecular etiology. This work lays the foundation for future functional and mechanistic studies to unravel the digenic role of NOD2 and NPC1.

show abstract

“…DNA preparation for WES, variant detection, filtration, validation, and segregation analysis were performed as described by Azab et al 8…”

Section: Whole Exome Sequencing and Analysismentioning

confidence: 99%

<p>Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases</p>

Altamimi¹,

Khanfar²,

Rabab’h³

et al. 2020

TACG

Self Cite

View full text Add to dashboard Cite

Purpose Four consanguineous Jordanian families with affected members of unknown gastrointestinal related diseases were recruited to assess the utility and efficiency of whole exome sequencing (WES) in reaching the definitive diagnosis. Patients and Methods Members from four consanguineous Jordanian families were recruited in this study. Laboratory and imaging tests were used for initial diagnosis, followed by performing WES to test all affected members for the detection of causative variants. Sanger sequencing was used for validation. Results We had a 100% success rate identifying each case presented in this study. Conclusion This is the first study applying a WES testing approach in the diagnosis of pediatric diseases in Jordan. Our results strongly suggest the need to implement WES as an evident diagnostic tool in the clinical setting, as it will subsequently allow for proper disease management and genetic counseling.

show abstract

Enteric anendocrinosis attributable to a novel Neurogenin-3 variant

Cited by 5 publications

References 21 publications

Kateter Enfeksiyonlarına Alternatif Çözüm: Kilit Tedavisi

Kateter Enfeksiyonlarına Alternatif Çözüm: Kilit Tedavisi

Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn’s Disease-like Presentation: Genotype-Phenotype Correlation Study

<p>Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases</p>

Contact Info

Product

Resources

About