Joint Manifestations in Children with Familial Mediterranean Fever in Armenia: Clinical and Genetic Characteristics
Gayane Amaryan,
Gayane Khloyan,
Tamara Sarkisian,
Artashes Tadevosyan,
Rotraud Katharina Saurenmann
Issue:
Volume 9, Issue 2, June 2021
Pages:
22-28
Received:
13 March 2021
Accepted:
6 April 2021
Published:
16 April 2021
Abstract: Familial Mediterranean fever (FMF) is an autosomal-recessive autoinflammatory disease in the group of Hereditary periodic fever syndromes (HPFS), characterized by recurrent, self-limited attacks of fever and polyserositis, which last 2-4 days. It manifests mainly in childhood and often has early onset, resolve without sequels. Genetic testing of FMF is efficient and allows diagnosing of atypical cases. FMF is a significant health care problem in Armenia because of high frequency of carriers of MEFV mutations 1:3 - 4 (0.21) and marked FMF prevalence 54.7 per 10`000 of the total population. Articular symptoms are found in about 45% of cases. They usually manifest as acute recurrent arthritis (ARA) or arthralgia, but more rarely also chronic arthritis can be found. We aimed to investigate clinical and genetic characteristics of the joint manifestations in Armenian children with FMF. The charts of all 715 patients with proven diagnosis of FMF at the National Pediatric Center (NPC) for FMF were reviewed for joint manifestations. The diagnosis of FMF and disease severity were determined according to the Tel-Hashomer criteria and molecular-genetic detection of 12 MEFV mutations common for Armenians. The characteristics of joint manifestations and overall FMF disease were then compared to MEFV mutation analysis. There were 438 boys and 277 girls with an age at diagnosis between 3 months and 17 years (mean age: 8.64±0.17). Joint involvement was observed in 56.4% of all 715 cases. The manifestation was ARA in 30.5%, arthralgia in 21.2% and chronic arthritis (CA) in 4.7%, which would also qualify for a diagnosis of JIA. The frequency of ARA was associated with M694V mutation, mainly M694V homozygous and M694V heterozygous genotypes. The risk of CA depended on MEFV genotype of the FMF patients and was the highest in M694Vheterozygotes and M694Vhomozygotes. M694V heterozygous genotype was noticed significantly more frequently among FMF patients with spondyloarthritis in comparison to those without it. The probability of the development of CA among FMF patients without M694V mutation was significantly higher also in heterozygotes in comparison to compound-heterozygotes. We concluded, that the frequency of joint involvement among Armenian pediatric FMF patients was high - 56.4%, especially for CA. Chronic arthritis may be the first manifestation of FMF and occurred usually in patients with severe M694V mutations. Patients of Armenian origin with refractory arthritis should be asked for isolated febrile attacks, hemorrhagic vasculitis, episodes of pleuritis and family history to rule out FMF.
Abstract: Familial Mediterranean fever (FMF) is an autosomal-recessive autoinflammatory disease in the group of Hereditary periodic fever syndromes (HPFS), characterized by recurrent, self-limited attacks of fever and polyserositis, which last 2-4 days. It manifests mainly in childhood and often has early onset, resolve without sequels. Genetic testing of FM...
Show More
Immunohistopathological Profile and Biomolecular Level of Central Nerve Tumors in Kinshasa, DRC According to the Classification of the World Health Organization 2016
Kisile Mikuo Olive,
Kabongo Mpolesha Jean Marie,
Claudia Manini
Issue:
Volume 9, Issue 2, June 2021
Pages:
29-36
Received:
10 March 2021
Accepted:
29 April 2021
Published:
14 May 2021
Abstract: The goal is to determine immunohistochemical histopathological profile and biomolecular level of Central nerve Tumors in Kinshasa, DRC. According to the classification of the World Health Organization (WHO) 2016. Our study is described on a series of cases that were studied using standard histopathological techniques, before undergoing specific immunohistochemical techniques for the detection of anti-IDH1antibodies in gliomas and biomolecular ones in the search for 1p19q deletion. Central nerve tumors account for 0.18% of all conditions, over a period of time. Meningothelial-type meningioma was the most common (60.9%). The most affected age group is over 50. The distribution of tumors by sex shows a predominance of woman (67.1%). The gliomas had constituted 29.6% of all nerve tumors recorded over the period considered and whose predominance was constituted by oligoastrocytomas with 42.1%. The immunohistochemical profile is characterized by a strong positivity with the anti-IDH1antibody in case of grade II oligoastrocytoma with 6.6%. Our study showed that central nerve tumors account for 0.18 of all conditions, gliomas are made up of 29.6% of all nerve tumors listed with a predominance of oligoastrocytomas. The immunohistochemical profile is characterized by a strong positivity with the anti-IDH1antibody in case of grade II.
Abstract: The goal is to determine immunohistochemical histopathological profile and biomolecular level of Central nerve Tumors in Kinshasa, DRC. According to the classification of the World Health Organization (WHO) 2016. Our study is described on a series of cases that were studied using standard histopathological techniques, before undergoing specific imm...
Show More
Clinical Relevance of Antiphospholipid Antibodies Levels During the Course of Severe COVID-19
Soumia Nachate,
Mahassine Moukaouim,
Loubna Darfaoui,
Zineb Nassiri,
Imane Ibrahim,
Houssam Rebahi,
Hajar Chichou,
Abdelhamid Hachimi,
Mohamed-Abdenasser Semkaoui,
Raja Hazime,
Lamiae Essaadouni,
Brahim Admou
Issue:
Volume 9, Issue 2, June 2021
Pages:
37-40
Received:
18 April 2021
Accepted:
6 May 2021
Published:
14 May 2021
Abstract: The aim of this study was to determine the clinical significance of antiphospholipid antibodies (APLs) during the follow-up of nine severe COVID-19 patients admitted to the Intensive Care Unit of the University Hospital. The measurement of APLs (IgG and IgM anti-cardiolipin (aCL) and anti-β2-glycoprotein-1 (aB2GP1) was performed on the 1st day and after 15 days of admission, using the chemiluminescence assay (threshold =19 CU). The average age of patients was 64.7 ± 20, 44 years (ranges: 30-88 years), with a sex-ratio of 1.25. On day-1, APLs were positive in two cases, the first of which was positive for IgG aβ2GP1 (94.9 CU) and IgG aCL (24.8 CU), and the second was positive only for IgG aβ2GP1 (31.4 CU). On day-15, APLs showed negative results for both aβ2GP1 and aCL for the first case, and decreasing titers of aβ2GP1 for the second one. Interestingly, these two cases showed no thromboembolic events and had a good clinical outcome. Conversely, APL positivity occurred at day-15 in two cases, corresponding to IgG aB2GPI (49.3 CU) in one case, and IgG aCL (76 CU) in the other. Both cases presented with a prolonged activated-partial-thromboplastin-time, high levels of D-dimers and fibrinogen, associated with increased levels of ferritin and interleukin-6. Our series has shown that IgG aB2GPI or IgG aCL can be either transient or appear secondarily with significantly high titers. The latter condition was associated with a poor clinical outcome, which emphasizes the importance of APLs monitoring in severe COVID-19 as a potential prognostic factor.
Abstract: The aim of this study was to determine the clinical significance of antiphospholipid antibodies (APLs) during the follow-up of nine severe COVID-19 patients admitted to the Intensive Care Unit of the University Hospital. The measurement of APLs (IgG and IgM anti-cardiolipin (aCL) and anti-β2-glycoprotein-1 (aB2GP1) was performed on the 1st day and ...
Show More
