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Primary endoscopic endonasal dacryocystorhinostomy for pediatric nasolacrimal duct obstruction: A systematic review

Saniasiaya J, Abdullah B, Husain S, Wang Y, Wan Mohammad Z

Am J Rhinol Allergy, 2017 Sep 01;31(5):328-333.
PMID: 28859711 DOI: 10.2500/ajra.2017.31.4464

BACKGROUND: Epiphora secondary to nasolacrimal duct obstruction is common in the pediatric age group. The mainstay treatment among these young patients has been conservative. Once epiphora becomes recalcitrant, however, an external or an endonasal approach is considered.
OBJECTIVE: Endoscopic dacryocystorhinostomy (EDCR) entails creating an opening from the lacrimal sac directly into the nasal cavity to counteract nasolacrimal duct obstruction. We reviewed the literature to determine the effectiveness and the safety of primary EDCR to treat pediatric nasolacrimal duct obstruction.
METHOD: A literature search was conducted by using a number of medical literature data bases for the period from 1995 to 2016. The following search words were used either individually or in combination: epiphora, nasolacrimal duct obstruction, endoscopic dacryocystorhinostomy, powered endoscopic dacryocystorhinostomy, laser-assisted endoscopic dacryocystorhinostomy, children, congenital, acquired, presaccal obstruction, and postsaccal obstruction. In addition, a few articles were identified based on the experience and information provided by the senior authors (B.A., S.H., D.Y.W.). The search was conducted over a 1-month period (January 2017). Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and the Cochrane Handbook for Systematic Reviews of Interventions were followed when possible.
RESULTS: Only 10 original clinical research articles were selected based on our objectives and selection criteria. All the studies were at level of evidence III: nonrandomized and noncomparative prospective or retrospective case series. Altogether, 313 patients with ages that ranged from 4 months to 18 years were enrolled. A total of 352 EDCRs were performed that were either single sided (n = 313) or bilateral (n = 39). The most common causes of the obstruction were classified as congenital, followed by idiopathic, and then acquired. A meta-analysis was not performed because of the heterogeneity of the patient groups and variability of the methods used to measure outcomes.
CONCLUSION: Analysis of the results indicated that EDCR was an effective, safe therapeutic approach to treating nasolacrimal duct obstruction in pediatric patients. It should be considered as an alternative procedure to external dacryocystorhinostomy after a failed conservative treatment.
Cervical bronchogenic cyst in a toddler

Ooi KM, Saniasiaya J, Kulasegarah J, Ong DL

BMJ Case Rep, 2024 Jan 12;17(1).
PMID: 38216171 DOI: 10.1136/bcr-2023-256699

Bronchogenic cyst is a congenital abnormality arising from the tracheobronchial system. Localisation of such cysts in the head and neck region is rare. We report a girl in her early childhood with a painless enlarging right lateral neck mass diagnosed with a branchial cleft cyst based on clinical and radiological MRI findings. An incidental finding of a cervical bronchogenic cyst was made on the final histopathological specimen. Although rare, bronchogenic cysts should be considered as differential diagnoses for paediatric patients' lateral and midline cervical masses.
Distraction Breathing Exercise in Managing Inducible Laryngeal Obstruction in a Female Patient

Che Ab Rahim NA, Saniasiaya J, Narayanan P

Indian J Otolaryngol Head Neck Surg, 2022 Dec;74(Suppl 3):5169-5171.
PMID: 36742856 DOI: 10.1007/s12070-022-03083-4

Inducible laryngeal obstruction (ILO) describes as inappropriate, episodic, reversible laryngeal closure during inspiration, occurring at the glottic and/or supraglottic level, in response to external triggers causing exertional breathing difficulties. We describe a case of a female patient with an underlying major depressive disorder who presented with sudden onset of stridor and tachypnoea, whereby the external trigger was psychogenic in origin. Bedside flexible nasopharyngolaryngoscopy (FNPLS) showed characteristic findings of paradoxical adduction of vocal cords during inspiration. Arterial blood gas analysis, routine blood tests, chest radiography, and computed tomography (CT) scan of brain, neck, and thorax excluded neurological or airway abnormality. Bedside distraction breathing exercise alleviated the stridor and tachypnoea. The patient was managed by supportive psychotherapy, speech therapy, and anti-reflux medication and was discharged well with resolution of her respiratory distress. We would like to highlight that meticulous history along with physical examinations are imperative especially amongst Otorhinolaryngologists as emergent airway management tracheostomy would have been unnecessary and cause more stress and burden to the patient as well as family members.
High-Riding Inominate Artery: Challenge During Tracheostomy

Wannitta Wong ET, Saniasiaya J, Tharek A, Sallehuddin NS

Indian J Otolaryngol Head Neck Surg, 2023 Dec;75(4):3878-3882.
PMID: 37974895 DOI: 10.1007/s12070-023-03944-6

An aberrant vessel presenting as a pulsatile neck mass poses a significant challenge intraoperatively if overlooked during the pre-operative period. We present a case of a high-riding innominate artery (HRIA) just above the suprasternal notch, with the right common carotid artery crossing the midline just inferior to the thyroid gland in a 72-year-old lady referred for tracheostomy. The surgeon operating on the anterior part of the neck must be aware of the HRIA and equipped with sufficient knowledge of interventions that may be adapted to prevent injury. We aim to highlight the importance of careful investigations of subtle signs which may lead to the diagnosis and treatment with a review of various interventions for this unusual condition.
An Unusual Presentation of Midline Lethal Granuloma

Chin EW, Saniasiaya J, Hitam S, Hassan E, Kah Wai N

Indian J Otolaryngol Head Neck Surg, 2024 Apr;76(2):2137-2140.
PMID: 38566723 DOI: 10.1007/s12070-023-04466-x

Extranodal natural killer T-cell lymphoma, nasal type (ENKTCL), is a rare form of non-Hodgkin lymphoma that is strongly related to Epstein-Barr Virus (EBV) infection and commonly presents as "midline lethal granuloma." Herein, we report a middle-aged lady who presented with a two-week history of fever, sore throat and constitutional symptoms. Intraoral examination revealed a lacerated soft palate with an ulcerated uvula. A diagnosis of ENKTCL was confirmed through deep biopsies under general anaesthesia supplemented with a positive serum EBV genome. Unfortunately, she succumbed due to disease progression with left frontal brain metastasis with concurrent pulmonary tuberculosis before treatment was completed. The recommended treatment is multimodality with L-asparaginase-containing regimes chemotherapy in an advanced stage, relapsed, or refractory ENKTCL for better outcomes. The quantification of circulating plasma EBV deoxyribonucleic acid (DNA) is helpful as the baseline of tumour load and a biomarker for monitoring treatment response and prognostication. We advocate repeated and deeper core tissue biopsies.
Fulltext Commonly Misdiagnosed Facial Lesion: Pilomatricoma

Xin TY, Saniasiaya J, Kulasegarah J, Fan CS

Acta Medica (Hradec Kralove), 2023;66(4):158-160.
PMID: 38588394 DOI: 10.14712/18059694.2024.11

Pilomatricoma, also known as Pilamatrixoma or Malherbe's calcifying epithelioma, is a benign skin tumour with a bimodal age distribution between the paediatric and elderly age groups. Although it was previously thought to be rare, recent studies have revealed that it is quite common. Typically, pilomatricoma is diagnosed following histopathological examination of the lesion as it is frequently misdiagnosed with other types of skin pathology. In our case, the child presented with painless swelling of the left infraauricular region. The initial cytology and imaging were unable to provide a definite diagnosis. An excision biopsy was done, and a histopathological examination was suggestive of Pilomatricoma. Therefore, Pilomatricoma ought to be considered in the differential diagnosis of head and neck lesions in hopes of providing a better understanding on this pathological lesion.
Fulltext Carcinoma Ex Pleomorphic Adenoma Presented as a Gigantic Tumor: Treatment and Diagnostic Challenges

Maruthamuthu T, Saniasiaya J, Mohamad I, Nadarajah S, Lazim NM, Wan Abdul Rahman WF

Oman Med J, 2018 Jul;33(4):342-345.
PMID: 30038735 DOI: 10.5001/omj.2018.62

Parotid gland surgery can be challenging due to intricate relationship between the gland and facial nerve. Besides complete removal of the lesion, the main focus of surgery is centered on the facial nerve. Surgery can be technically demanding especially when the tumor is large or involves the deep lobe. We report a patient with a 30-year history of gigantic parotid mass, which initial fine-needle aspiration cytology reported as pleomorphic adenoma. The tumor, weighing 1.3 kg, was successfully resected with facial nerve preservation. Histopathological examination of the excised mass confirmed as carcinoma ex pleomorphic adenoma (CaExPA) of adenocarcinoma, not otherwise specified type. We describe the specific surgical and reconstruction techniques for successful removal of large parotid tumors with facial nerve preservation. To our knowledge, this is the heaviest CaExPA of the parotid gland in South-East Asian region.
Fulltext A Rare Manifestation of Cervical Yolk Sac Tumor in an Unfortunate Infant

Saniasiaya J, Hamid SSA, Mohamad H, Wahab WNNWA, Zawawi N

Turk Arch Otorhinolaryngol, 2019 Sep;57(3):157-160.
PMID: 31620699 DOI: 10.5152/tao.2019.3900

Paediatric germ cell tumor is composed of various neoplasms which exhibit capricious clinical presentation and histological features depending on the age and the area of presentation. Yolk sac tumor is an extremely rare malignant tumor of embryonic origin which usually arises from the gonads. Its manifestation in the head and neck region is extremely rare. Here, we report a rare case of the malignant transformation of mature teratoma into yolk sac tumor of the neck in an infant. Diagnosis was confirmed following histopathological examination of the neck mass along with marked increase of the serum alpha-fetoprotein. The child unfortunately succumbed prior to chemotherapy. We highlight the challenge we faced in diagnosing and managing this rare entity. We would also like to recommend serial monitoring of serum alpha-fetoprotein in all patients with mature teratoma to detect malignant transformation early.
Fulltext X-Linked Gusher Disease DFNX2 in Children, a Rare Inner Ear Dysplasia with Mixed Hearing and Vestibular Loss

Dasgupta S, Hong J, Morris R, Iqbal J, Lennox-Bowley A, Saniasiaya J

Audiol Res, 2023 Aug 04;13(4):600-614.
PMID: 37622928 DOI: 10.3390/audiolres13040052

Conductive hearing losses are typically present in disorders of the external/middle ear. However, there is a rare group of inner ear conditions called third windows that can also generate a conductive hearing loss. This is due to an abnormal connection between the middle and the inner ear or between the inner ear and the cranial cavity. X-linked gusher disorder is an extremely rare congenital inner ear dysplastic syndrome with an abnormal connection due to a characteristic incomplete cochlear partition type III and an incomplete internal auditory meatus fundus. The disorder is inherited in an X-linked fashion due to the mutation of the POU3F4 gene. We present two siblings diagnosed with the condition and their long-term follow-ups. They both presented audiovestibular symptoms and showed progressive mixed losses and bilateral vestibular weakness. They were treated with cochlear implant, digital amplification and with vestibular rehabilitation. Significant others around them were involved in their journey with the medical team, and in both, a very favourable outcome was achieved. This is the first time that we have reported evolving audiovestibular function with vestibular quantification in X-linked gusher disorder and emphasize on the multidisciplinary holistic approach to manage these children effectively.
Familial congenital laryngotracheal stenosis: A systematic review

Saniasiaya J, van der Meer G, Toll EC, McCaffer C, Barber C, Neeff M

Int J Pediatr Otorhinolaryngol, 2024 Feb;177:111841.
PMID: 38181460 DOI: 10.1016/j.ijporl.2023.111841

BACKGROUND: Congenital laryngotracheal stenosis (CLS) is a rare cause of stridor among newborns. Evidence has shown that several family members can be affected by CLS. Knowledge of the pathophysiology of familial congenital laryngotracheal stenosis (FCLS) will enable more effective therapeutic strategies.
OBJECTIVE: To determine the clinical course and outcome of familial congenital laryngotracheal stenosis (FCLS).
METHODS: A literature search was conducted over a period of one month (September 2023) by searching several databases to identify studies published from inception to 31st August 2023.
RESULTS: Of 256 papers identified, five articles met the inclusion criteria. A total of 17 patients with slight female predominance (59 %) were identified. Familial congenital tracheal stenosis was reported in female twins (100 %). A variety of clinical presentations were listed. An endoscopic airway study was performed on all patients. 64.8 % of the included children were managed surgically. Genetic studies performed on 41 % of children could not locate genetic abnormalities.
CONCLUSION: Consanguinity, twin births, and female gender could be predisposing factors for FCLS, although the quality of evidence is low due to the rarity of the condition.