scholarly journals Severe mycobacterium bovis BCG infection in an infant with partial dominant interferon gamma receptor deficiency-a case report

2021 ◽  
Vol 7 (4) ◽  
pp. 106-108
Author(s):  
Jagruthi Reddy ◽  
Priya Jose ◽  
Mathew Varghese ◽  
Peter Prasanth Kumar Kommu

Mendalian susceptibity to mycobacterial disease (MSMD) is a condition caused by selective susceptibility to weakly virulent bacteria in otherwise healthy patients without additional immunological abnormalities. It is an inherited, genetic disorder with variety of clinical presentation. Diagnosis is mandatory because the illness may get precipitated by BCG and other live vaccines. Estimating interleukin in serum can be considered as a diagnostic test. Immunological analysis is mandatory for confirming the diagnosis. Mutation analysis can be done to confirm the mutation and hence, prevent the disease in the next sibling by testing in utero. This condition can be treated with ATT as the first line treatment. If ineffective, can be given other modalities of treatment described. But relapses are common. Stem cell transplantation is the definitive treatment. We describe an infant diagnosed as partial dominant interferon gamma receptor deficiency (IFNGR1) deficiency, who responded to ATT

1994 ◽  
Vol 269 (23) ◽  
pp. 16159-16162 ◽  
Author(s):  
D. Lundell ◽  
C.A. Lunn ◽  
M.M. Senior ◽  
P.J. Zavodny ◽  
S.K. Narula

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 512
Author(s):  
Aleksandra Gilis-Januszewska ◽  
Anna Bogusławska ◽  
Kornelia Hasse-Lazar ◽  
Beata Jurecka-Lubieniecka ◽  
Barbara Jarząb ◽  
...  

Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, even between affected members within the same family. We describe a heterogenic phenotype of the MEN1 variant c.781C>T (LRG_509t1), which was previously reported only once in a family with isolated hyperparathyroidism. A heterozygous missense variant in exon 4 of the gene was identified in the sequence of the MEN1 gene, i.e., c.781C>T, leading to the amino acid change p.Leu261Phe in a three-generation family. In the screened family, 5/6 affected members had already developed hyperparathyroidism. In the index patient and two other family members, an aggressive course of pancreatic neuroendocrine tumor (insulinoma and non-functioning neuroendocrine tumors) with dissemination was diagnosed. In the index patient, late diagnosis and slow progression of the disseminated neuroendocrine tumor have been observed (24 years of follow-up). The very rare variant of MEN1, LRG_509t1 c.781C>T /p.Leu261Phe (LRG_509p1), diagnosed within a three-generation family has a heterogenic clinical presentation. Further follow-up of the family members should be carried out to confirm the spectrum and exact time of clinical presentation.


2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
A Tsiachristas ◽  
H West ◽  
E.K Oikonomou ◽  
B Mihaylova ◽  
N Sabharwall ◽  
...  

Abstract Background The National Institute for Health and Care Excellence (NICE) updated their guidance for the management of patients with stable chest pain and recommended that all patients undergo computed tomography coronary angiography (CTCA). This update has sparked a great deal of debate, and was followed by upgrade of CTCA into a Class I indication in the recent ESC guidelines. The cost-effectiveness of using CTCA as first line investigation is still unclear. Purpose To describe the current clinical pathway of patients with stable chest pain presented to outpatient clinics, assess the compliance with the updated NICE guideline, and explore the costs and health outcomes of different non-invasive diagnostic tests in real-world clinical setting. Methods We used data of 4,297 patients who attended chest pain clinics in Oxford between 1 January 2014 and 31 July 2018. Data included clinical presentation (e.g. age and previous cardiovascular conditions), diagnostic tests, outpatient visits, hospitalization, and hospital mortality and was compared between 6 alternative first-line diagnostic tests. Multinomial regressions were performed to estimate the probability of receiving each alternative and the associated cost after adjusting for clinical presentation. A decision tree was developed to describe the clinical pathway for each alternative first-line diagnostic in terms of subsequent diagnostic tests and treatments and to estimate the associated costs and life days. Results The proportion of patients who received CTCA as first line diagnostic test increased from 1% in 2014 to 17% in 2018, while the publication of the updated NICE guidelines in 2016 led to a threefold increase in this proportion. CTCA is less likely to be provided as a first-line diagnostic to patients who are younger age, males, smokers, and have angina, PVD, or diabetes. The standardised rate of hospital admission was the lowest in the exercise ECG cohort (0.35 admissions per 1,000 life-days) followed by the CTCA cohort (0.40 admissions per 1,000 life-days) while the latter cohort had the lowest standardised rate of cardiovascular treatment (2.74% per 1,000 life days). Stress echocardiography and MPS were associated with higher costs compared with CTCA, other ECG, and exercise ECG after adjusting for clinical presentation and days of follow-up. CTCA is the pathway most likely to be cost-effective, even compared to exercise ECG, while the other diagnostic alternatives are dominated (i.e. they cost more for less life-days). Conclusions Currently, the updated NICE guidelines for stable chest pain are implemented only to a fifth of the cases in England. Our findings support existing evidence that CTCA is the most-cost effective first-line diagnostic test for this population. Hopefully, this will inform the debate around the implementation of the guidelines and help commissioning and clinical decision processes worldwide. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): National Institute of Health Research Oxford Biomedical Research Centre


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