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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 report
Full Version
Airway Challenges in a Child with Treacher Collins Syndrome having Ventricular Septal Defect, Oculofacial Malformations and Oesophageal Atresia: A Case Report
Correspondence Address :
Dr. Janhavi Dahake,
Junior Resident, Department of Anaesthesia, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha-442107, Maharashtra, India.
E-mail: janhavidahake98@gmail.com
Treacher Collins Syndrome (TCS), also known as Franceschetti syndrome, is an autosomal dominant condition marked by various developmental anomalies confined to the head and face. It primarily affects craniofacial structures derived from the first and second branchial arches. Patients usually present with down-slanting palpebral fissures, mandibular hypoplasia, lower eyelid colobomas, external ear malformations, and hearing loss. Congenital heart defects and cryptorchidism are two other unusual anomalies. It is typically a bilateral condition. The symptoms and physical features of TCS can vary greatly from person to person. Some individuals may be affected so mildly that their condition goes undiagnosed, whereas others may develop serious, life-threatening complications. Individuals with TCS may require specialised airway management due to a narrow mouth aperture and micrognathia. They are best served by an interprofessional team that can coordinate all aspects of their care. Timely detection and management can improve the quality of life for these patients. The present case report presents the airway challenges in an eight-year-old child with TCS who has congenital malformations and presented with swallowing difficulty, which was later diagnosed as oesophageal atresia.
Airway obstruction, Congenital anomalies, Developmental disorders, Oesophageal dilatation
An eight-year-old child presented to the casualty with the chief complaint of difficulty swallowing solid food for the last 15 days. The patient also had a history of decreased appetite for the past two months and experienced a generalised tonic-clonic seizure seven months ago. The patient was immediately shifted to the Intensive Care Unit (ICU) where injectable anticonvulsants were administered and then transferred to the ward on the fourth day. The patient had a history of head trauma in a road traffic accident. The birth history of the patient reveals that he was a term baby delivered via lower segment caesarean section, with an eight-day stay in the neonatal ICU. Immunisations are complete and up-to-date. The medical history obtained from the patient’s parents indicated that the child had developmental delays, began walking at 2.5 years, started speaking at three years, had oculofacial malformations, and was diagnosed with a Ventricular Septal Defect (VSD) since childhood.
General examination revealed a thin-built, afebrile patient with a pulse rate of 92/min and a respiratory rate of 16/min. The external ear was absent, and the extraoral examination showed malformed ears, microtia (Table/Fig 1), eyes with a downward slant, flattened cheekbones, and a small, steeply angled jaw (Table/Fig 2).
All routine investigations were completed, including a complete blood count, kidney function test, liver function test, and prothrombin time-international normalised ratio. A Computed Tomography (CT) scan of the brain showed asymmetrical pneumatisation of mastoid air cells (left mastoid cells more pneumatised than the right), with the external auditory canal not visualised bilaterally, and a smaller left-side mandibular condyle. An Magnetic Resonance Imaging (MRI) of the brain revealed no abnormalities. Further work-up was conducted to rule out other malformations, with abdominal, pelvic, and renal ultrasonography showing normal results.
A 2D Echocardiography identified a VSD (closed), with an ejection fraction of 60% and a mildly dilated left ventricle. A barium swallow revealed a proximal oesophageal stricture (Table/Fig 3),(Table/Fig 4),(Table/Fig 5). Despite the absence of TCS in the family history, the patient was diagnosed with TCS based on clinical and radiographic findings. The ‘sunk-in’ appearance and bilateral facial structure involvement, without limb or vertebral abnormalities, differentiate this syndrome from others such as Miller, Nager, and Goldenhar (1). Since the patient presented with complaints of swallowing difficulty and reduced appetite, following the diagnosis of oesophageal stricture, the patient was scheduled for oesophageal dilatation under Total Intravenous Anaesthesia (TIVA).
A complete preanaesthetic check-up was conducted, and after obtaining paediatric and cardiac clearance, it was determined that a difficult airway was anticipated. During airway assessment, starting from external features, it was noted that the jaw was underdeveloped, making bag and mask ventilation very difficult and preventing a proper seal. The child experienced episodes of apnoea, necessitating the use of a guedel airway and continuous bag and mask ventilation for 20 minutes. Intubation was attempted but unsuccessful, as the vocal cords could not be visualised. Bag and mask ventilation was continued. The patient was found to have a Mallampati score of grade II (2), with an oral opening and thyromental distance of >3 fingerbreadths. Medications were administered based on the patient’s body weight. Premedication included Intravenous (i.v.) glycol 0.08, injection Midazolam 1 mg, Ketamine 30 mg, and propofol 40 mg. Upon administration of propofol, the child experienced apnoea, leading to the abandonment of the surgery for three hours. Non operative room intubations were typically more challenging due to the anticipated difficult airway. Given the patient’s jaw malformations and difficulties in mask ventilation, head tilt, and jaw lift maneuvers were performed.
After four hours of monitoring, the patient was taken for the procedure again. Endoscopy revealed a tight stricture noted at 22 cm from the incisor teeth. A paediatric endoscope could not be passed across the narrowing into the stomach. Therefore, a Savary Gillard wire was guided across the narrowed segment under fluoroscopic and endoscopic guidance. Graded dilatation was carried out with Savary Gillard dilators ranging from 5 mm to 11 mm, and a similar procedure of oesophageal dilatation was performed after four weeks. Following the lower oesophageal stricture release four weeks later, the upper oesophageal stricture was reduced. The child’s discomfort in swallowing solids and liquids decreased, and the child found more comfort with a liquid diet.
The TCS, known as Franceschetti-Zwahlen-Klein syndrome, is a craniofacial development disorder with high penetrance. Up to 60% of TCS cases have no family history and are caused by a de novo mutation (3). TCS is linked to abnormal differentiation of pharyngeal arches during foetal development. Characteristics of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possible coloboma of the lateral part of the lower eyelids, midface hypoplasia, micrognathia, and sporadically cleft palate and choanal atresia or stenosis (4).
The TCS patients may be challenging to clinically diagnose because they exhibit similar features to other disorders such as Miller and Nager syndromes, and the oculoauriculovertebral spectrum (known as Goldenhar syndrome). These disorders are caused by abnormal development of the first and second branchial arches during embryonic development (1).
The TCS is caused by mutations in the TCOF1 and POLR1C genes, which affect facial development before birth (5),(6). TCS is a congenital malformation of the first branchial arch, also known as mandibulofacial dysostosis (6),(7). Congenital heart disease is a significant association in the case of TCS, as shown by the index case. Patients are prone to postoperative upper airway obstruction, pharyngeal oedema, laryngeal oedema, and respiratory distress (8). Due to upper airway obstruction, relative macroglossia, retrognathia, and difficult intubation in these patients, airway management is challenging. Airway difficulty increases with age, necessitating a re-evaluation of the airway before each anaesthetic (9).
The TCS causes periorbital defects, hypoplasia of zygomatic arches, and deformities of the middle ear. Infants with severe mandibular hypoplasia and airway narrowing may require a tracheostomy tube to breathe (10). Previous research on other craniofacial syndromes has found that choanal atresia and various forms of cleft palate impair eating and drinking abilities (10). Therefore, it is reasonable to assume that feeding and swallowing difficulties in TCS are caused by a combination of craniofacial abnormalities (11). Additionally, feeding difficulties are believed to be the cause of the often reported slim posture in TCS patients (12). Wong KR et al., discovered malar deformity on Computed Tomography (CT) in TCS patients and found a degree of zygomatic hypoplasia with a decrease in malar volume compared to healthy individuals. Moreover, it was found that decreased malar volume was associated with masseter muscle hypoplasia (13).
A case involving a 13-year-old girl with facial and dental deformities, alongside mild hearing loss, was diagnosed with TCS, showing features of a bird-like appearance of the mandible, hypoplasia, and a high-arched palate, and was treated with supportive care. The deformities in this case were bilateral (14). Another case involved a 31-year-old individual who presented primarily with a dental anomaly and a history of surgery for a larger mouth and an ear infection, similar to the present case, and was appropriately addressed. These instances contribute to the literature suggesting that TCS patients should be monitored from an early age as they may require multiple surgical corrections in the future for an improved quality of life (15).
A unique case of oesophageal atresia with TCS was reported in a full-term female baby presenting with respiratory distress and micrognathia initially. It was observed that the baby had a hypoplastic midface, absence of lower eyelid lashes, posteriorly displaced tongue, choanal atresia on the left-side, and conductive hearing loss. Treatment to correct the deformities commenced immediately, and the baby responded well and was discharged (16). In a similar case involving a paediatric patient with TCS exhibiting limited mouth opening, the patient experienced significant airway obstruction during deep inhalation anaesthesia for a dental procedure. Due to the limited mouth opening, an LMA was not used, and the patient was sedated with midazolam and sevoflurane, followed by awake fiberoptic intubation (17). Mendelian genetic laws state that an affected parent of either sex has a 50% chance of passing on the defect to their offspring. This emphasises the importance of genetic counselling for affected individuals. TCS currently has no known cure, and treatment is tailored to each patient’s unique manifestations and requirements. An interprofessional team approach is considered the most beneficial. Correcting various TCS deformities is typically associated with differences in facial growth patterns and functionality, and many may not necessitate surgical correction (18). Physicians play a crucial role in recognising this disorder, understanding its manifestations, and providing close follow-up, appropriate therapy, and counselling. Early diagnosis of TCS allows for timely and suitable treatment of the aesthetic and functional deficiencies in these patients (19),(20).
The TCS presents a significant challenge to anaesthesiologists in terms of airway maintenance due to upper airway obstruction and difficulties in tracheal intubation caused by facial deformities. Airway management in these patients is often complicated by retrognathia. The present case underscores the importance of being prepared for patients with TCS undergoing surgery, as they may have challenging airways, difficult intubation, and may require a trolley and postoperative ICU bed with ventilator support ready. Proper preoperative planning, including thorough examination screening, should be conducted before making a final decision. Since each TCS patient is unique, treatment should be formulated by a multidisciplinary team. Managing TCS is time-consuming and requires a multidisciplinary approach focused on symptom management.
DOI: 10.7860/JCDR/2024/69524.19264
Date of Submission: Jan 12, 2024
Date of Peer Review: Jan 23, 2024
Date of Acceptance: Mar 08, 2024
Date of Publishing: Apr 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: Jan 11, 2024
• Manual Googling: Jan 29, 2024
• iThenticate Software: Mar 06, 2024 (8%)
ETYMOLOGY: Author Origin
EMENDATIONS: 8
- Emerging Sources Citation Index (Web of Science, thomsonreuters)
- Index Copernicus ICV 2017: 134.54
- Academic Search Complete Database
- Directory of Open Access Journals (DOAJ)
- Embase
- EBSCOhost
- Google Scholar
- HINARI Access to Research in Health Programme
- Indian Science Abstracts (ISA)
- Journal seek Database
- Popline (reproductive health literature)
- www.omnimedicalsearch.com