scholarly journals A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement

2021 ◽  
Author(s):  
Ene‐Choo Tan ◽  
Shi Yun Chia ◽  
Khadijah Rafi’ee ◽  
Shan Xian Lee ◽  
Andrew Boon Eu Kwek ◽  
...  
Keyword(s):  
Skin Involvement ◽  
Gastrointestinal Manifestations ◽  
Child Syndrome

Gastrointestinal Mastocytosis: A Potential Diagnostic Pitfall to Be Aware

2019 ◽  
Vol 27 (6) ◽  
pp. 643-646
Author(s):  
Magda Zanelli ◽  
Rish K. Pai ◽  
Maria Grazia Zorzi ◽  
Maurizio Zizzo ◽  
Giovanni Martino ◽  
...  
Keyword(s):  
Gastrointestinal Tract ◽  
Systemic Mastocytosis ◽  
Clinical Manifestations ◽  
Organ Involvement ◽  
Skin Involvement ◽  
Histological Findings ◽  
Gastrointestinal Involvement ◽  
Gastrointestinal Manifestations ◽  
Diagnostic Pitfall ◽  
High Index Of Suspicion

Mastocytosis is a rare and heterogeneous group of disorders that may be limited to the skin and even spontaneously regress or may have a systemic presentation with multi-organ involvement and poor outcome. Among the extracutaneous sites, gastrointestinal tract is often affected, but nonspecific clinical manifestations combined with subtle histological findings of the disease makes the diagnosis of gastrointestinal mastocytosis rather hard. In absence of a high index of suspicion, gastrointestinal involvement is easily overlooked. We report a challenging case of systemic mastocytosis presenting with isolated gastrointestinal manifestations without skin involvement, in which the diagnosis was missed at first evaluation of intestinal biopsies.

Recurrent Acute Hyperparathyroidism with Severe Gastrointestinal Manifestations

1960 ◽  
Vol 39 (1) ◽  
pp. 83-89 ◽  
Author(s):  
Abraham Atsmon ◽  
Menachem Frank ◽  
Paul Nathan ◽  
Andre de Vries
Keyword(s):  
Gastrointestinal Manifestations ◽  
Acute Hyperparathyroidism

How to Spot and Treat Vulnerable Child Syndrome

2007 ◽  
Vol 41 (6) ◽  
pp. 28
Author(s):  
ROXANNE NELSON
Keyword(s):  
Vulnerable Child ◽  
Child Syndrome

CHILD syndrome with linear eruptions, hypopigmented bands, and verruciform xanthoma.

1998 ◽  
Vol 15 (5) ◽  
pp. 360-366 ◽  
Author(s):  
K Hashimoto ◽  
S Prada ◽  
AP Lopez ◽  
JG Hoyos ◽  
M Escobar
Keyword(s):  
Verruciform Xanthoma ◽  
Child Syndrome

scholarly journals Complete eradication of chronic lymphocytic leukemia with unusual skin involvement of high mitotic index after time‐limited venetoclax/obinutuzumab treatment

2021 ◽  
Vol 9 (7) ◽  
Author(s):  
Maria Dimou ◽  
Theodoros Iliakis ◽  
Vasileios Paradalis ◽  
Aikaterini Bitsani ◽  
Marie‐Christine Kyrtsonis ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Mitotic Index ◽  
Lymphocytic Leukemia ◽  
Skin Involvement ◽  
Complete Eradication

scholarly journals AB0603 PDGFΑ AS A POTENTIAL BLOOD MARKER IN DSSC

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1598.3-1598
Author(s):  
K. Romanowska-Prochnicka ◽  
A. Wajda ◽  
A. Paradowska-Gorycka ◽  
A. Felis-Giemza ◽  
E. Walczuk ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Late Phase ◽  
Mrna Level ◽  
Method Comparison ◽  
Active Phase ◽  
Ground Glass ◽  
Skin Involvement ◽  
Blood Marker ◽  
Spearman Test ◽  
Non Parametric

Background:PDGF is a potential important factor in the pathogenesis of scleroderma. PDGF is almost undetectable in healthy skin or lung. Immunohistochemical studies have revealed increased presence of PDGFαand PDGFβreceptors in scleroderma skin biopsies.Objectives:The aim of this study was to determine the mRNA level ofIFNα1,IL-4, TGFβ1,TGFβ2,PDGFα,PDGFβ,TNFαin whole blood in SSc patients in the aspect of clinicalMethods:A group of 14 patients (50% were women) with systemic sclerosis based on EULAR / ACR 2013 criteria was included in the study. The modified Rodnan Skin Score (mRSS) was evaluated by same assistant at the beginning of the study and six months later. DLCO, HRCT, echocardiography and NFC were measured.Gene expression was determined using validated TaqMan probes in qPCR. Constitutive mRNA level of selected genes was analyzed using ΔCt method. Comparison between different groups of patients was determined using non-parametric Mann-Whitney U test. Correlation was analyzed using non-parametric Spearman test.Results:The mean age of the patients was 60 ± 15.66. 100% of patients had organ involvement as pulmonary fibrosis. 78% - had active changes -features of ground glass.64% of patients had mild mRSS-1-10 skin involvement, 36% had moderate to severe skin involvement. In SSc patientsTGFβ1andIFNα1revealed the highest level of expression in comparison to other analyzed genes. Additionally, very high and significant correlation betweenTNFαandTGFβ1(r=0.7 p=0.004) has been noted. High and significant correlation between mRNAPDGFβandTNFαlevels have been observed. We did not reveal significant differences in analyzed genes expression when compare limited and diffuse SSc. Nevertheless, patients with dSSc were characterized by higher level ofIFNα1(almost 2 times) andTGFβ1. On the border of significance higherPDGFαmRNA level was observed in dSSc patients when compared to lSSc. AveragePDGFαexpression is higher in SSc patients with Scl70 positive than than in patients without Scl70 (p=0.04).In the aspect of clinical parameters, patients with ESR ≤12 mm/h revealed almost 6 times higher level ofIFNα1(p=0.01) in comparison to the patient with ESR>12mm/h.Patients with mRSS above10 points revealed significantly higher ofPDGFαexpression in comparison to patients with mRSS ≤10 (p=0.04). In these group of patients CRP and ESR were not different significantly.In the case of patients with active fibrosis (ground glass) in HRCTIFNα1expression was almost 2.5-times higher than in patients with HRCT non-active. Significantly higherPDGFα has been revealed in patients with active HRCT when compared with patient with non-active HRCT. Nevertheless these two groups did not differ in ESR or OB parameter.SSc patients in active phase of NFC revealed almost 3 times higher level ofIFNα1expression in comparison with the patient in late phase.Conclusion:The mRNA level ofPDGFαmay be a potential blood marker to predict worse prognosis in sclerodermaReferences:[1]Rheumatology (Oxford). 2008 Oct;47 Suppl 5:v2-4. doi: 10.1093/rheumatology/ken265.Role of PDGF in fibrotic diseases and systemic sclerosis.Trojanowska M1.Acknowledgments:NoDisclosure of Interests:None declared

Luminal Gastrointestinal Manifestations of Cystic Fibrosis

2021 ◽  
Vol 23 (3) ◽  
Author(s):  
Samuel J Burton ◽  
Christine Hachem ◽  
James M. Abraham
Keyword(s):  
Cystic Fibrosis ◽  
Gastrointestinal Manifestations
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