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Authors are the souls of any journal, and deserve much respect. To publish a journal manuscripts are needed from authors. Authors have a great responsibility for producing facts of their work in terms of number and results truthfully and an individual honesty is expected from authors in this regards. Both ways its true "No authors-No manuscripts-No journals" and "No journals–No manuscripts–No authors". Reviewing a manuscript is also a very responsible and important task of any peer-reviewed journal and to be taken seriously. It needs knowledge on the subject, sincerity, honesty and determination. Although the process of reviewing a manuscript is a time consuming task butit is expected to give one's best remarks within the time frame of the journal.
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.
Timely publication of journal: Publication of manuscripts and bringing out the issue in time is one of the positive aspects of JCDR and is possible with strong support team in terms of peer reviewers, proof reading, language check, computer operators, etc. This is one of the great reasons for authors to submit their work with JCDR. Another best part of JCDR is "Online first Publications" facilities available for the authors. This facility not only provides the prompt publications of the manuscripts but at the same time also early availability of the manuscripts for the readers.
Indexation and online availability: Indexation transforms the journal in some sense from its local ownership to the worldwide professional community and to the public.JCDR is indexed with Embase & EMbiology, Google Scholar, Index Copernicus, Chemical Abstracts Service, Journal seek Database, Indian Science Abstracts, to name few of them. Manuscriptspublished in JCDR are available on major search engines ie; google, yahoo, msn.
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
Case Series
Full Version
Topical Sirolimus for Facial Angiofibroma in Tuberous Sclerosis Complex: A Case Series
Correspondence Address :
Gampi Ete,
300 Residents Hostel, JJ Hospotal Campus, Byculla, Mumbai-400008, Maharashtra, India.
E-mail: etegampi7@gmail.com
Facial angiofibromas (FAs) are a distressing manifestation of Tuberous Sclerosis Complex (TSC), often leading to significant physical and psychological burdens. Traditional treatment modalities have limitations, prompting the exploration of alternative therapies. In the present case series, topical sirolimus, a Mammalian Target of Rapamycin (mTOR) inhibitor, was used to manage FAs associated with TSC. Four cases (1 male and 3 female) of FAs in patients with TSC were treated with 0.1% sirolimus ointment applied once daily. The Facial Angiofibroma Severity Index (FASI) was utilised to assess FA severity at baseline and during follow-up visits, which spanned 3 to 12 months. Patient satisfaction and tolerability were also evaluated. Results demonstrated a consistent reduction in FASI scores across all patients, indicating improved FA severity. Patient satisfaction varied, with higher contentment observed in cases where treatment was initiated at a younger age. Importantly, no significant adverse effects were noted, affirming the safety profile of topical sirolimus. These findings underscore the potential of topical sirolimus as a promising therapeutic avenue for FAs in TSC, offering a cost-effective and well-tolerated alternative to conventional treatments. Further research is warranted to elucidate optimal dosing strategies and long-term outcomes, but current evidence supports its consideration as a viable option in the management of FAs associated with TSC.
Facial angiofibroma severity index, Mammalian target of rapamycin inhibitor, Neurocutaneous condition
The neurocutaneous condition known as Tuberous Sclerosis Complex (TSC) is an autosomal dominant multisystem disorder caused by mutations in the tumour suppressor genes TSC1 and TSC2. TSC1 is located at gene locus 9q34.3 and codes for the hamartin protein, while TSC2 is located at 16p13.3 and codes for the tuberin protein (1). Facial Angiofibromas (FA) are the most predominant cutaneous manifestation of TSC, occurring in approximately 75% to 90% of patients (2). The overall incidence of TSC varies between 1/10000 and 1/100000 (3).
The FA consists of multiple small, pinkish, erythematous hamartomas, typically appearing between the ages of two and five and worsening with age. These lesions are associated with spontaneous bleeding, pain, risk of infection, facial disfigurement and impairment of patient functions such as vision and breathing, which can ultimately diminish the patient’s quality of life (4). Jansen AC et al., found that FA significantly impacts individuals and their families, with nearly half experiencing setbacks in education or career. The condition affects family, social and work life, with limited access to coordinated care and moderate rates of pain, discomfort, anxiety and depression among patients (5).
At present, available treatment options are limited to cryosurgery, dermabrasion, photodynamic therapy, laser therapy and surgery. These approaches have not demonstrated sustained efficacy and accessibility in the long-term and often involve complications (6). Less invasive topical treatment with mTOR inhibitors has been advocated and its safety and efficacy for this purpose have been demonstrated in clinical trials (7). The mTOR inhibitors mimic the functions of the TSC gene products by blocking mTOR activity. Both sirolimus and everolimus, a 40-O-(2-hydroxyethyl) derivative, efficiently block mTOR (8),(9). However, concerns about systemic adverse effects limit the use of sirolimus ointment for treating FA. In India, sirolimus is available in 1 mg and 2 mg tablets. These tablets can be powdered and combined with a desired ointment, cream, or gel base to create a topical preparation.
Case studies have reported various formulations, production methods and dosages, but only a few have evaluated rash intensity or treatment response with a scoring method (7),(10),(11).
The present series highlights our experience using 0.1% sirolimus ointment in four cases of FA and aims to determine its efficacy using the standardised and validated Facial Angiofibroma Severity Index (FASI).
The four respondents, consisting of one male and three females aged between five and 19 years, were diagnosed to have TSC based on the criteria established by the International TSC Consensus Conference in 2012 (12) and they all had associated FA diagnosed clinically. Each patient was instructed to apply a thin layer of 0.1% sirolimus ointment to the skin lesions once in the evening, ensuring to avoid any areas of open skin. The ointment was prepared by combining 10 1 mg tablets of crushed sirolimus with 10 grams of white soft paraffin and was stored in an airtight container. Written informed consent was obtained from the patients or their guardians and baseline clinical photographs and FASI were done. They were reviewed every three months for clinical improvement and the presence of side-effects. The FASI score was calculated based on the criteria given in (Table/Fig 1) (6).
Physician Global Assessment (PGA) was used to see the treatment response, as outlined in (Table/Fig 2) (13). Overall patient satisfaction was assessed using a 5-point Likert scale, detailed in (Table/Fig 3). One patient has completed 12 months of treatment, while the others have completed three months at the time of reporting. Improvements in the PGA and Likert scale, as well as any adverse events, were recorded.
Case 1
A 19-year-old male presented with the onset of FA at the age of 3 years. His baseline FASI was eight, which dropped to six after 12 months of treatment (Table/Fig 4).
Case 2
A 19-year-old female presented with FA since the age of 2 years. She had a baseline FASI of seven, which decreased to five at the end of three months (Table/Fig 5).
Case 3
A 14-year-old girl presented with FA since she was four years old. She had a baseline FASI of seven, which reduced to six after three months of treatment (Table/Fig 6).
Case 4
A 5-year-old girl had FA since the age of 3 years old. Her baseline FASI was six, which decreased to five in three months (Table/Fig 7).
The improvements on PGA and the Likert scale, as well as the adverse events in each case, are tabulated in (Table/Fig 8).
The TSC is characterised by the development of hamartomas affecting multiple organ systems. In individuals with TSC, the mTOR pathway is hyperactive in dermal fibroblast-like cells, prompting epiregulin production and excessive epidermal cell proliferation. This, along with increased angiogenesis, drives FA development (14). Sirolimus is a lipophilic lactone isolated from Streptomyces hygroscopicus; it inhibits mTOR, curtailing cell growth, suggesting a potential treatment avenue (9). Sirolimus has been proven to be an effective mTOR inhibitor for FAs linked to TSC (7),(8),(9),(10).
The authors experience with 0.1% sirolimus ointment was concordant with a Turkish case series comprising 12 children, which reported significant improvement in erythema and reduction in tumour size. The change in average FASI score was significantly different after treatment (15).
It is hypothesised that early-stage growing tumours, which have a higher proliferative component, may respond better to sirolimus. Hence, it could be more beneficial when instituted at an early age (13). In the present case series, case 4 was started on treatment at five years of age, case 3 at 14 years and the other two at 19 years of age. Noticeable improvement was recorded in all the cases, but patient satisfaction was highest in case 4. Thus, topical sirolimus may have benefits at any age of presentation, but the best results may be seen when treatment is started early.
Wataya-Kaneda M et al., reported the effects of different topical concentrations of sirolimus on angiofibromas for varying durations and concluded that the optimal concentration of sirolimus was 0.2% (7). Since there is no clear endpoint for topical sirolimus in FA and prolonged treatment is the norm-and considering the lower socio-economic status of the patients, the authors finalised 0.1% topical ointment for our patients due to its greater cost-effectiveness and compliance.
Although the present case series did not study the quality of life, the authors assessed overall satisfaction related to the treatment, wherein the participants (or their parents) were asked to consider the cosmetic as well as mental satisfaction while scoring the treatment. All the cases tolerated the application well and experienced no sideeffects.
The findings of the present case series cannot be generalised due to several limitations. First, the study lacked randomisation, which may introduce bias. Second, the small sample size limits the reliability of the results. Additionally, the short follow-up period makes it difficult to assess the long-term effectiveness and safety of sirolimus ointment. Furthermore, the formulation used in the present study was manually prepared, which may lead to inconsistencies in concentration and potency, potentially affecting treatment outcomes. To validate these results, larger randomised controlled trials with standardised formulations and longer follow-up periods are needed.
Topical 0.1% sirolimus ointment appears to be a promising treatment for FA in individuals with TSC, particularly in resource-limited settings where affordability is crucial. The treatment was well-tolerated, with no reported side-effects and resulted in a significant improvement in FASI scores.
DOI: 10.7860/JCDR/2024/72846.20280
Date of Submission: Jun 11, 2024
Date of Peer Review: Sep 12, 2024
Date of Acceptance: Sep 28, 2024
Date of Publishing: Nov 01, 2024
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: Jun 17, 2024
• Manual Googling: Sep 14, 2024
• iThenticate Software: Sep 27, 2024 (9%)
ETYMOLOGY: Author Origin
EMENDATIONS: 5
- Emerging Sources Citation Index (Web of Science, thomsonreuters)
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