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On Sep 2018




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"Journal of Clinical and Diagnostic Research is at present a well-known Indian originated scientific journal which started with a humble beginning. I have been associated with this journal since many years. I appreciate the Editor, Dr. Hemant Jain, for his constant effort in bringing up this journal to the present status right from the scratch. The journal is multidisciplinary. It encourages in publishing the scientific articles from postgraduates and also the beginners who start their career. At the same time the journal also caters for the high quality articles from specialty and super-specialty researchers. Hence it provides a platform for the scientist and researchers to publish. The other aspect of it is, the readers get the information regarding the most recent developments in science which can be used for teaching, research, treating patients and to some extent take preventive measures against certain diseases. The journal is contributing immensely to the society at national and international level."



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On Aug 2018




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Dr. Arundhathi. S
MBBS, MD (Pathology),
Sanjay Gandhi institute of trauma and orthopedics,
Bengaluru.
On Aug 2018




Dr. Mamta Gupta,
"It gives me great pleasure to be associated with JCDR, since last 2-3 years. Since then I have authored, co-authored and reviewed about 25 articles in JCDR. I thank JCDR for giving me an opportunity to improve my own skills as an author and a reviewer.
It 's a multispecialty journal, publishing high quality articles. It gives a platform to the authors to publish their research work which can be available for everyone across the globe to read. The best thing about JCDR is that the full articles of all medical specialties are available as pdf/html for reading free of cost or without institutional subscription, which is not there for other journals. For those who have problem in writing manuscript or do statistical work, JCDR comes for their rescue.
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Reviewing articles is no less a pain staking process and requires in depth perception, knowledge about the topic for review. It requires time and concentration, yet I enjoy doing it. The JCDR website especially for the reviewers is quite user friendly. My suggestions for improving the journal is, more strict review process, so that only high quality articles are published. I find a a good number of articles in Obst. Gynae, hence, a new journal for this specialty titled JCDR-OG can be started. May be a bimonthly or quarterly publication to begin with. Only selected articles should find a place in it.
An yearly reward for the best article authored can also incentivize the authors. Though the process of finding the best article will be not be very easy. I do not know how reviewing process can be improved. If an article is being reviewed by two reviewers, then opinion of one can be communicated to the other or the final opinion of the editor can be communicated to the reviewer if requested for. This will help one’s reviewing skills.
My best wishes to Dr. Hemant Jain and all the editorial staff of JCDR for their untiring efforts to bring out this journal. I strongly recommend medical fraternity to publish their valuable research work in this esteemed journal, JCDR".



Dr. Mamta Gupta
Consultant
(Ex HOD Obs &Gynae, Hindu Rao Hospital and associated NDMC Medical College, Delhi)
Aug 2018




Dr. Rajendra Kumar Ghritlaharey

"I wish to thank Dr. Hemant Jain, Editor-in-Chief Journal of Clinical and Diagnostic Research (JCDR), for asking me to write up few words.
Writing is the representation of language in a textual medium i e; into the words and sentences on paper. Quality medical manuscript writing in particular, demands not only a high-quality research, but also requires accurate and concise communication of findings and conclusions, with adherence to particular journal guidelines. In medical field whether working in teaching, private, or in corporate institution, everyone wants to excel in his / her own field and get recognised by making manuscripts publication.


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Salient features of the JCDR: It is a biomedical, multidisciplinary (including all medical and dental specialities), e-journal, with wide scope and extensive author support. At the same time, a free text of manuscript is available in HTML and PDF format. There is fast growing authorship and readership with JCDR as this can be judged by the number of articles published in it i e; in Feb 2007 of its first issue, it contained 5 articles only, and now in its recent volume published in April 2011, it contained 67 manuscripts. This e-journal is fulfilling the commitments and objectives sincerely, (as stated by Editor-in-chief in his preface to first edition) i e; to encourage physicians through the internet, especially from the developing countries who witness a spectrum of disease and acquire a wealth of knowledge to publish their experiences to benefit the medical community in patients care. I also feel that many of us have work of substance, newer ideas, adequate clinical materials but poor in medical writing and hesitation to submit the work and need help. JCDR provides authors help in this regards.
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In the era of fast growing newer technologies, and in computer and internet friendly environment the manuscripts preparation, submission, review, revision, etc and all can be done and checked with a click from all corer of the world, at any time. Of course there is always a scope for improvement in every field and none is perfect. To progress, one needs to identify the areas of one's weakness and to strengthen them.
It is well said that "happy beginning is half done" and it fits perfectly with JCDR. It has grown considerably and I feel it has already grown up from its infancy to adolescence, achieving the status of standard online e-journal form Indian continent since its inception in Feb 2007. This had been made possible due to the efforts and the hard work put in it. The way the JCDR is improving with every new volume, with good quality original manuscripts, makes it a quality journal for readers. I must thank and congratulate Dr Hemant Jain, Editor-in-Chief JCDR and his team for their sincere efforts, dedication, and determination for making JCDR a fast growing journal.
Every one of us: authors, reviewers, editors, and publisher are responsible for enhancing the stature of the journal. I wish for a great success for JCDR."



Thanking you
With sincere regards
Dr. Rajendra Kumar Ghritlaharey, M.S., M. Ch., FAIS
Associate Professor,
Department of Paediatric Surgery, Gandhi Medical College & Associated
Kamla Nehru & Hamidia Hospitals Bhopal, Madhya Pradesh 462 001 (India)
E-mail: drrajendrak1@rediffmail.com
On May 11,2011




Dr. Shankar P.R.

"On looking back through my Gmail archives after being requested by the journal to write a short editorial about my experiences of publishing with the Journal of Clinical and Diagnostic Research (JCDR), I came across an e-mail from Dr. Hemant Jain, Editor, in March 2007, which introduced the new electronic journal. The main features of the journal which were outlined in the e-mail were extensive author support, cash rewards, the peer review process, and other salient features of the journal.
Over a span of over four years, we (I and my colleagues) have published around 25 articles in the journal. In this editorial, I plan to briefly discuss my experiences of publishing with JCDR and the strengths of the journal and to finally address the areas for improvement.
My experiences of publishing with JCDR: Overall, my experiences of publishing withJCDR have been positive. The best point about the journal is that it responds to queries from the author. This may seem to be simple and not too much to ask for, but unfortunately, many journals in the subcontinent and from many developing countries do not respond or they respond with a long delay to the queries from the authors 1. The reasons could be many, including lack of optimal secretarial and other support. Another problem with many journals is the slowness of the review process. Editorial processing and peer review can take anywhere between a year to two years with some journals. Also, some journals do not keep the contributors informed about the progress of the review process. Due to the long review process, the articles can lose their relevance and topicality. A major benefit with JCDR is the timeliness and promptness of its response. In Dr Jain's e-mail which was sent to me in 2007, before the introduction of the Pre-publishing system, he had stated that he had received my submission and that he would get back to me within seven days and he did!
Most of the manuscripts are published within 3 to 4 months of their submission if they are found to be suitable after the review process. JCDR is published bimonthly and the accepted articles were usually published in the next issue. Recently, due to the increased volume of the submissions, the review process has become slower and it ?? Section can take from 4 to 6 months for the articles to be reviewed. The journal has an extensive author support system and it has recently introduced a paid expedited review process. The journal also mentions the average time for processing the manuscript under different submission systems - regular submission and expedited review.
Strengths of the journal: The journal has an online first facility in which the accepted manuscripts may be published on the website before being included in a regular issue of the journal. This cuts down the time between their acceptance and the publication. The journal is indexed in many databases, though not in PubMed. The editorial board should now take steps to index the journal in PubMed. The journal has a system of notifying readers through e-mail when a new issue is released. Also, the articles are available in both the HTML and the PDF formats. I especially like the new and colorful page format of the journal. Also, the access statistics of the articles are available. The prepublication and the manuscript tracking system are also helpful for the authors.
Areas for improvement: In certain cases, I felt that the peer review process of the manuscripts was not up to international standards and that it should be strengthened. Also, the number of manuscripts in an issue is high and it may be difficult for readers to go through all of them. The journal can consider tightening of the peer review process and increasing the quality standards for the acceptance of the manuscripts. I faced occasional problems with the online manuscript submission (Pre-publishing) system, which have to be addressed.
Overall, the publishing process with JCDR has been smooth, quick and relatively hassle free and I can recommend other authors to consider the journal as an outlet for their work."



Dr. P. Ravi Shankar
KIST Medical College, P.O. Box 14142, Kathmandu, Nepal.
E-mail: ravi.dr.shankar@gmail.com
On April 2011
Anuradha

Dear team JCDR, I would like to thank you for the very professional and polite service provided by everyone at JCDR. While i have been in the field of writing and editing for sometime, this has been my first attempt in publishing a scientific paper.Thank you for hand-holding me through the process.


Dr. Anuradha
E-mail: anuradha2nittur@gmail.com
On Jan 2020

Important Notice

Case report
Year : 2022 | Month : November | Volume : 16 | Issue : 11 | Page : OD04 - OD06 Full Version

Early Onset Sarcoidosis/Blau Syndrome: Disguising as Juvenile Idiopathic Arthritis


Published: November 1, 2022 | DOI: https://doi.org/10.7860/JCDR/2022/49284.17044
Bharat Kumar Singh, Seema Singh, Savita Singh

1. Consultant Rheumatologist, Department of Rheumatology, Santokba Durlabhji Memorial Hospital and Medical Research Institute, Jaipur, Rajasthan, India. 2. Assistant Professor, Department of Pathology, Rajasthan University of Health Sciences, Jaipur, Rajasthan, India. 3. Assistant Professor, Department of Microbiology, PDU Medical College, Churu, Rajasthan, India.

Correspondence Address :
Dr. Seema Singh,
Assistant Professor, Department of Pathology, Rajasthan University of Health Sciences, Jaipur, Rajasthan, India.
E-mail: drseemasingh@rediffmail.com

Abstract

Blau Syndrome (BS) is a rare autoinflammatory granulomatous disorder which mostly develops at an early age (less than four years) and is described by granulomatous dermatitis, symmetric arthritis and recurrent uveitis. Hereby, the authors present a case of a 5-year-old female child with joint pain and swelling since four years. Initially, her diagnosis was made as juvenile idiopathic arthritis-polyarticular Rheumatoid Factor (RF) negative and was initiated on methotrexate along with bridge steroids (prednisolone). When she presented to the hospital, she had skin coloured micropapular rashes, mostly non follicular over body, from last nine months and after skin and synovial biopsy, the diagnosis was reviewed as early onset sarcoidosis/BS-sporadic type. The present rare report highlights that, BS is an under-recognised and reported childhood arthritis which may have multisystem involvement. The onset of arthritis without ocular or skin manifestations may be mistaken as juvenile idiopathic arthritis.

Keywords

Early rheumatoid arthritis, Granulomatous dermatitis, Inflammation, Polyarticular rheumatoid factor, Uveitis

Case Report

A 5-year-old female child presented to the Department of Rheumatology with joint pain and swelling since four years, for which naproxen was prescribed by her family physician. She was taking Non Steroidal Anti-inflammatory Drug Naprosyn (NSAIDs) as and when needed. She had been well till one year of age then her mother noticed swelling and pain over both the knees, ankles, wrists, small joints of hands. Patient had a history of difficulty in walking, playing and early morning stiffness for around 30 minutes for four weeks. It was insidious in onset and gradually progressing. She was the younger of two siblings and was born out of non consanguineous marriage. There was no family history of any autoimmune disease.

On examination, child appeared unwell with moderate fever, pale with no organomegaly or lymphadenopathy. Wrist, small joints of hands, knee and ankle joints were swollen with no tenderness, redness or warmth. Swelling was disproportionately more than pain; however, no deformities were noted. Erythrocyte Sedimentation Rate (ESR) (45 mm/hr) and high-sensitivity C-Reactive Protein (CRP) (29.4 mg/L) were raised however, haemoglobin was 9.2 g/dL, platelets were 2.5 lacs/mm3 with normal total and differential counts. X-rays showed soft tissue swelling with no juxta articular osteopenia or joint space narrowing. Auto-antibody profile RF, Anti-Cyclic Citrullinated Peptide (anti-CCP) antibody, Antinuclear Antibodies (ANA), Human Leukocyte Antigen B27 (HLA-B27)) was negative.

The diagnosis was made as juvenile idiopathic arthritis-polyarticular RF negative based on the International League of Associations for Rheumatology’s (ILAR) criteria (1), and was initiated on methotrexate 10 mg/m2 and increased to 15 mg/m2 (duration three months) along with bridge steroids (prednisolone 0.5 mg/kg/day). She responded well to the treatment with improvement in joint pain, swelling, and fever. Steroids were tapered-off over three months and maintained on methotrexate.

After 18 months she had two episodes of bilateral anterior uveitis due to poor compliance, which was managed with topical steroids and mydriatics. Now, she had developed skin coloured micropapular rashes mostly non follicular over body, from last nine months (Table/Fig 1). These rashes were non tender, non itchy and joint swellings appeared again. Her skin and synovial biopsies (Table/Fig 2) revealed non caseating epithelioid granulomas and Ziehl-Neelsen (ZN) stain was negative. Mantoux test, interferon-gamma release assays were negative. Serum Angiotensin-Converting Enzyme (ACE) level was 97 U/L and serum calcium was 10.1 mg/dL. Her diagnosis was reviewed as early onset sarcoidosis/Blau syndrome-sporadic type based on clinical history and histopathology findings. ANA and HLA-B27 were also negative. Her parents chose not to go for genetic analysis due to financial limitations. She was initiated again on methotrexate (10 mg/m2) and low dose prednisolone (7.5 mg) and she is doing well, till the latest follow-up from the last nine months. Methotrexate was continued and prednisolone was tapered-off in three months.

Discussion

Blau syndrome is primarily an inherited and chronic inflammatory syndrome which is described by granulomatous dermatitis, symmetric arthritis and recurrent uveitis which mostly develops at an early age (<4 years) (2). It has been reported that patients with Early Onset Sarcoidosis (EOS) may also have mutations in CARD15/NOD2 as BS; hence, BS and EOS are considered as familial and sporadic forms of same disease, respectively. To the best of our knowledge, there are <200 patients with BS (3), of which familial is the commonest one with very few sporadic cases. Cases of BS have been reported in Caucasians, Afro-Americans, and Asian’s (4),(5); however, limited reports are available from India (6),(7),(8),(9),(10).

Blau syndrome may have varied presentation ranging from 17 months to 45 years of age (11),(12). Arthritis is one of the most common symptoms in patients with BS which is symmetrical, non erosive and usually involves wrists, small joints of hands and feet and ankles. Initially, this may be mistaken as juvenile idiopathic arthritis in the absence of ocular or skin involvement. Frequent granulomatous inflammation may contribute to the development of wrist ankylosis and boutonnière finger deformities (13). At the later stages, eye involvement (recurrent anterior uveitis, panuveitis with eye pain, photophobia or blurred vision) is most common which may demand close follow-up to avoid further damage and impact on quality of life (14). Patients with BS may have papular erythematous rash which may be present for short duration. Arthritis is generally seen during first 10 years of life, which generally have limited symptoms or erosive swelling in wrists, ankles, knees, and/or elbows with progressive flexion contractures of the fingers. Uveitis, fever, cranial neuropathies, arteritis, and granulomatous involvement of visceral organs are also seen in some patients (15),(16).

There is a limited evidence of BS from India (6),(7),(8),(9),(10). The largest series from India reported seven cases ranging from 2-25 years of age and all these cases had a history of early onset skin rashes, joint involvement, uveitis and had negative ANA. Of these, five from two families had inherited mutation of NOD2 gene and remaining two cases had denovo mutation of the NOD2 gene (6). Janarthanan M et al., reported three cases (mother and two children; 38/F, 10/M and 5/F) from the same family who presented with uveitis and arthritis and all were RF, ANA, and HLA-B27 negative and were being managed with methotrexate (7).

Another paper reported a female who had symmetric polyarthritis at the age of 3 years and developed granulomatous uveitis at 13 years and was diagnosed as BS with NOD2 mutation at the age of 21 years, when she had disseminated granulomas in liver and kidneys (8). Mutation at the exon 4 of the NOD2 gene is the diagnostic finding for BS. Commonly, the R334W mutation is noted while other mutations like E600K, Y563S and M513T are also reported (17),(18). Genetic counselling should be conducted, since BS is an inheritant autosomal dominant disorder, screening of the family of the patient becomes crucial.

In the present case, the symptoms presented started at the age of one year. Her RF, ANA and HLA-B27 were also negative and the diagnosis was made as early onset sarcoidosis/BS of sporadic type and being managed with methotrexate and low dose prednisolone. A recent case series of six patients, who were diagnosed with BS/EOS responded well to the treatment of corticosteroids, NSAIDs, methotrexate, infliximab, adalimumab, anakinra, and canakinumab (19). Due to the rarity of the syndrome, there is no optimal management. Majority of patients require immunosuppression on a long-term and for ocular signs like cataract or glaucoma, surgery is suggested. For acute presentation, high dose glucocorticoids are administered. Methotrexate, corticosteroids and Tumour Necrosis Factor (TNF) inhibitors remain the standard medications for BS (20). Data from a study by Matsuda T et al., on 50 cases of BS has shown that treatment with biological agents such as monoclonal antibodies, namely infliximab, adalimumab has avoided blindness (21). Other biological agents such as canakinumab, tocilizumab or anakira have also shown favourable response (22),(23). The clinical presentation and treatment outcomes of previous Indian studies are summarised in (Table/Fig 3) (8),(9),(10),(24),(25). Unfortunately, genetic analysis could not be performed due to financial limitations, a common problem in countries like India.

Conclusion

Blau syndrome is an under-recognised and under reported ailment of childhood arthritis which may have multisystem involvement. The onset of arthritis without ocular or skin manifestations may be mistaken as juvenile idiopathic arthritis. Genetic testing to detect the mutation in NOD2 gene is crucial for confirming the diagnosis. Immunosuppressants, monoclonal antibodies and TNF inhibitors have shown favourable outcomes in articular manifestation. Identifying the accurate treatment and analysing the pathogenesis of the disease is essential for better prognosis in future.

References

1.
Petty RE, Southwood TR, Manners P, Baum J, Glass DN, Goldenberg J, et al. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: Second revision, Edmonton, 2001. J Rheumatol. 2004;31(2):390-92.
2.
Stoevesandt J, Morbach H, Martin TM, Zierhut M, Girschick H, Hamm H. Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. Pediatr Dermatol. 2010;27(1):69-73. [crossref] [PubMed]
3.
Velickovic J, Silan F, Bir FD, Silan C, Albuz B, Ozdemir O. Blau syndrome with a rare mutation in exon 9 of NOD2 gene. Autoimmunity. 2019;52(7-8):256-63. [crossref] [PubMed]
4.
Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, et al. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: Common genetic etiology with Blau syndrome. Blood. 2005;105(3):1195-97. [crossref] [PubMed]
5.
Rybicki BA, Maliarik MJ, Bock CH, Elston RC, Baughman RP, Kimani AP, et al. The Blau syndrome gene is not a major risk factor for sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis. 1999;16(2):203-08.
6.
Babu K, Rao AP. Clinical profile in genetically proven blau syndrome: A case series from South India. Ocul Immunol Inflamm. 2020;29(2):250-56. [crossref] [PubMed]
7.
Janarthanan M, Poddar C, Sudharshan S, Seabra L, Crow YJ. Familial Blau syndrome: First molecularly confirmed report from India. Indian J Ophthalmol. 2019;67(1):165-67. [crossref] [PubMed]
8.
Jindal AK, Pilania RK, Suri D, Gupta A, Gattorno M, Ceccherini I, et al. A young female with earlyonset arthritis, uveitis, hepatic, and renal granulomas: A clinical tryst with Blau syndrome over 20 years and case-based review. Rheumatol Int. 2021;41(1):173-81. [crossref] [PubMed]
9.
Naik AU, Annamalai R, Biswas J. Uveitis in sporadic Blau syndrome: Long-term follow-up of a refractory case treated successfully with adalimumab. Indian J Ophthalmol. 2018;66(10):1483-85. [crossref] [PubMed]
10.
Jain L, Gupta N, Reddy MM, Mittal R, Barik MR, Panigrahi B, et al. A novel mutation in helical domain 2 of NOD2 in sporadic Blau syndrome. Ocul Immunol Inflamm. 2018;26(2):292-94. [crossref] [PubMed]
11.
Çakan M, Keskindemirci G, Aydoğmus¸ Ç, Aki H, Hatipoğlu N, Kiyak A, et al. Coexistence of early onset sarcoidosis and partial interferon-γ receptor 1 defciency. Turk J Pediatr. 2016;58:545-49. [crossref] [PubMed]
12.
Ong LT, Nachbur U, Rowczenio D, Ziegler JB, Fischer E, Lin MW. A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function. Innate Immun. 2017;23(7):578-83. [crossref] [PubMed]
13.
Yi Yong C, Mukhtyar C, Armon K. Blau syndrome treated with sequential biologics. Rheumatol Adv Pract. 2018;2(Suppl 1):rky034.028. [crossref] [PubMed]
14.
Marín-Noriega MA, Muñoz-Ortiz J, Mosquera C, de-la-Torre A. Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report. Am J Ophthalmol Case Rep. 2020;18:100714. [crossref] [PubMed]
15.
Jha S, Mittal S, Kumar RR, Dhooria A, Rawat A, Dhir V. An unusual cause of deforming erosive arthritis in an adult. Rheumatology (Oxford). 2020;59(3):602. [crossref] [PubMed]
16.
Poline J, Fogel O, Pajot C, Miceli-Richard C, Rybojad M, Galeotti C, et al. Early-onset granulomatous arthritis, uveitis and skin rash: Characterization of skin involvement in Blau syndrome. J Eur Acad Dermatol Venereol. 2020;34(2):340-48. [crossref] [PubMed]
17.
Rosé CD, Pans S, Casteels I, Anton J, Bader-Meunier B, Brissaud P, et al. Blau syndrome: Cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. Rheumatology (Oxford). 2015;54(6):1008-16. [crossref] [PubMed]
18.
Sarens IL, Casteels I, Anton J, Bader-Meunier B, Brissaud P, Chédeville G, et al. Blau syndrome-associated uveitis: Preliminary results from an international prospective interventional case series. Am J Ophthalmol. 2018;187:158-66. [crossref] [PubMed]
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DOI and Others

DOI: 10.7860/JCDR/2022/49284.17044

Date of Submission: Mar 05, 2021
Date of Peer Review: Apr 29, 2021
Date of Acceptance: Sep 29, 2022
Date of Publishing: Nov 01, 2022

AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes

PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Mar 08, 2021
• Manual Googling: Sep 26, 2022
• iThenticate Software: Sep 27, 2022 (14%)

ETYMOLOGY: Author Origin

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