MyMedR

The effects of Goldenhar Syndrome on hearing and speech development

Zizlavsky S, Anam K, Suwento R, Rahmawati I

Med J Malaysia, 2021 Nov;76(6):946-949.

Goldenhar syndrome is a congenital abnormality with an incidence of 1 in 5,200 to 26,500 births. This syndrome is characterized by facial asymmetry, ear malformation, and/or defects in the eyes and vertebrae. The hearing disorder manifests as both conductive or sensorineural due to the abnormalities occurring in the inner and outer ear. We report a case of a 1-year-3-month-old child presenting with left anotia and right microtia, severe bilateral conductive hearing loss, and global delayed development. The patient was also found to have a hemifacial microsomia, a secundum atrial septal defect (ASD), and a ventricular septal defect (VSD). The patient was advised to use hearing aids and participate in speech therapy. The management of this Goldenhar syndrome patient should be done comprehensively, appropriate to the abnormalities found to achieve the best result.

Impedance changes in cochlear implant electrodes one year after switch on: A cohort study at a tertiary referral hospital in Jakarta, Indonesia

Zizlavsky S, Saleh R, Priyono H

Med J Malaysia, 2023 Sep;78(5):589-593.

PMID: 37775484

INTRODUCTION: Monitoring of impedance field telemetry is crucial to maintaining optimal function of cochlear implants. This study aims to investigate impedance changes in cochlear implant electrodes one year after switch on.

MATERIALS AND METHODS: A retrospective repeated crosssectional study was conducted by recruiting patients with cochlear implants presenting to the Dr. Cipto Mangunkusumo National General Hospital, Jakarta, Indonesia between 2017 and 2021. Basal (b1, b2) and apical (a1, a2) electrodes, representing the outermost and innermost parts of the cochlear implant electrodes, were measured at switch on and at 1 year post-implantation.

RESULTS: A total of 123 patients, with a total of 123 cochlear implant samples, were included in the analysis. We found a substantial change in electrical impedance between switch on and follow-up periods, where the impedance levels of basal electrodes decreased (b1: mean difference (MD) -1.13 [95% confidence interval (CI): -1.71, -0.54], p<0.001; b2: MD -0.60 [95%CI: -1.17, -0.03], p=0.041) and those of apical electrodes increased (a1: MD 0.48 [95%CI: -0.28, 0.99], p=0.064; a2: MD 0.67 [95%CI: 0.12, 1.22], p=0.017). We also found that the choice of surgical approaches for implant insertion may affect the electrode impedance. Cochleostomy approach resulted in a higher impedance than round window in basal (b1) and apical (a2) electrodes both at switch on and follow-up (b1 at switch on and at follow-up: p=0.019 and p=0.004; a2 at follow-up: p=0.012). Extended round window approach also resulted in a higher impedance than round window in basal (b1) and apical (a2) electrodes at follow-up (p=0.013 and p=0.003, respectively).

CONCLUSION: Electrical impedance of cochlear implant electrodes may change over time, highlighting the importance of regular impedance assessments for cochlear implant users to ensure optimal device function. The round window approach resulted in better initial and long-term impedance levels compared to cochleostomy, and better long-term impedance levels than extended round window. Extended round window approach also gives better impedance level than cochleostomy. Further research should investigate the potential interplay between surgical approach and other factors that may impact impedance levels to confirm our findings.

Fulltext Analysis of the survival motor neuron and neuronal apoptosis inhibitory protein genes in Malay patients with Spinal Muscular Atrophy

Zilfalil BA, Zabidi-Hussin AMH, Watihayati MS, Rozainah MY, Naing L, Sutomo R, et al.

Med J Malaysia, 2004 Oct;59(4):512-4.

PMID: 15779584 MyJurnal

In Malaysia, Spinal Muscular Atrophy (SMA) is diagnosed based on clinical observation with or without muscle biopsy. Molecular analyses of the SMA-related genes have not been available so far. In this preliminary study, we searched for homozygous deletion of Survival Motor Neuron (SMN1) and Neuronal Apoptosis Inhibitory Protein (NAIP) genes in Malay patients with SMA and found homozygous deletion of SMN1 exon 7 and 8 in all the patients while homozygous deletion of NAIP exon 5 was detected in only our type 1 patients but not in the type 3 patient. To the best of our knowledge, these are the first SMA cases diagnosed at the molecular level in Malaysia.

Fulltext Preliminary evaluation of various rapid influenza diagnostic test methods for the detection of the novel influenza A (H1N1) in Universiti Kebangsaan Malaysia Medical Centre

Zetti ZR, Wong KK, Haslina M, Ilina I

Med J Malaysia, 2010 Mar;65(1):27-30.

PMID: 21265244 MyJurnal

We evaluated the performance of four rapid influenza diagnostic test methods (RIDT) compared to real-time reverse-transcription polymerase chain reaction (rRT-PCR), for the detection of the novel swine-origin influenza A (H1N1) virus (S-OIV) in August 2009. A total of 270 respiratory specimens were tested with rRT-PCR, where 74 of these were tested by BinaxNow (Inverness), 80 by QuickVue (Quidel), 37 by Influenza A Antigen Rapid Test (Rockeby Biomed) and 79 by Directigen (BD). The sensitivities ranged from 4.4% to 37.0%, specificities 90.9% to 100.0%, positive predictive values 75.0% to 100.0% and negative predictive values 32.3% to 75.0%. RIDT were able to detect S-OIV but the sensitivities were low. The limitations of RIDT must be considered when interpreting results for clinical management.

Fulltext A fatal case of Vibrio vulnificus cellulitis with septicaemia

Zetti ZR, Norazlah B, Raha AR

Med J Malaysia, 2009 Sep;64(3):246-7.

PMID: 20527281 MyJurnal

Vibrio vulnificus is a gram-negative marine bacterium that may cause local wound infection, distinctive soft tissue infection, gastroenteritis and septicaemia with a high mortality rate. A healthy man presented with severe abdominal pain, diarrhoea and fever followed by development of multiple blisters, cellulitis and necrotizing fasciitis of the lower limbs, who progressed rapidly to fulminant sepsis caused by this organism. Vibrio vulnificus septicaemia should be suspected in the presence of sepsis and progressive soft-tissue infection with recent history of raw seafood consumption.

Sturge-Weber syndrome and variability of clinical presentation

Zeka N, Zeka B, Gerguri A, Bejiqi R, Retkoceri R, Maloku A, et al.

Med J Malaysia, 2023 Mar;78(2):145-148.

PMID: 36988522

INTRODUCTION: Sturge-Weber syndrome (SWS) is a congenital syndrome characterised by intellectual disability, glaucoma, a characteristic port-wine stain on the skin around the route of the ophthalmic branch of the trigeminal nerve and the affection of the leptomeninges in the brain in the form of abnormal capillary venous vessels. The aim of this study is to look at the clinical features as well as the correlation of SWS with other comorbidities in hospitalised children.

MATERIALS AND METHODS: Records of admitted children over the period 2000-2019 were retrospectively studied. Epidemiological variables, gender and age at the time of diagnosis, changes in the skin, central nervous system affection and ophthalmological changes were analysed and recorded.

RESULTS: Eleven cases of SWS were identified and included in the study. Age at the time of diagnosis ranged from 1 to 36 months. EEG showed specific grapho-elements, with partial seizures presenting in five cases out eight total cases with epilepsy. Ophthalmological complications were common, with glaucoma and choroidal haemangioma being the most common. Cognitive problems were found in seven cases, headache in eight cases and hemiparesis in four.

CONCLUSION: SWS is associated with other medical conditions. The study has described some of the features of SWS and found its correlation with epilepsy and other neurological problems, glaucoma, headache, hemiparesis and cognitive problems.

Synthesis of nanosized hydroxyapatite powders

Zarina O, Radzali O

Med J Malaysia, 2004 May;59 Suppl B:160-1.

PMID: 15468867

Hydroxyapatite powder was mechanochemically synthesized from calcium pyrophosphate (Ca2P2O7) and calcium carbonate (CaCO3) using a solid-state reaction. The two powders were mixed in distilled water, milled for 8 hours, dried and calcined at 1100 degrees C for 1 hour. The phase(s) formed was analyzed by x-ray diffraction (XRD). It was found that hydroxyapatite was not the only one formed. This result will be used as the starting point to produce a single-phase hydroxyapatite in terms of excess hydroxyl group in a mechanochemical reaction.

Fulltext Spectrum of infections in splenectomised thalassaemia patients

Zarina AL, Norazlin KN, Hamidah A, Aziz DA, Zulkifli SZ, Jamal R

Med J Malaysia, 2010 Dec;65(4):283-5.

PMID: 21901946

Splenectomised thalassaemia patients are at risk of developing sepsis. As the infection may be life-threatening, treatment should be sought and given promptly. A retrospective study was performed amongst our thalassaemia major patients who were splenectomised. The vaccination status of each patient and the types of infections seen were reviewed to obtain a local perspective. In our cohort of 49 splenectomised patients, 25 patients required hospitalization for the treatment of infection. There were a total of 40 febrile episodes within this hospitalised group of which 27.5% were microbiologically documented infection with bacteraemia. The predominant causative organisms were gram negative rods and three patients succumbed to overwhelming septicaemic shock as a result of delayed presentation. Sixty percent of the febrile episodes were clinically documented infection and comprised mainly upper respiratory tract infections. Based on the spectrum of infections seen, there is a need to improve the patients' awareness level so that early treatment is sought. There is also a need to re-address the approach towards vaccination in this immunocompromised group of patients by administering a booster pneumococcal and influenza vaccination in an attempt to reduce morbidity.

Fulltext Audit of newborn screening programme for congenital hypothyroidism

Zarina AL, Rahmah R, Bador KM, Ng SF, Wu LL

Med J Malaysia, 2008 Oct;63(4):325-8.

PMID: 19385494 MyJurnal

Newborn screening for congenital hypothyroidism (CH) was implemented in Hospital UKM in December 2004 using cord blood sample. From the audit over a period of 25 months, a total of 13,875 newborn babies were screened with a coverage of 98.8%. From this cohort, the mean recall rate was 0.32%; unfortunately the mean percentage of recalled babies that came for retesting was only 79.5%. In addition, the mean sample rejection rate was high, i.e. 2.2%. Two babies were diagnosed to have CH. These findings implied that whilst the coverage of screening was good, there is a need for regular surveillance of performance of both clinical and laboratory personnel. In addition, a more concerted effort should be carried out to promote community awareness of such a programme.

Fulltext Unbalanced chromosomal translocation: a cause of recurrent spontaneous abortion

Zarina AL, Jamil MA, Ng SP, Rohana J, Yong SC, Salwati S, et al.

Med J Malaysia, 2006 Jun;61(2):260-2.

PMID: 16898328 MyJurnal

Recurrent spontaneous abortion, defined as three consecutive abortions, occurs in approximately 1% to 2% of couples. Although the cause is unknown in up to 50% of cases, about 5% of these couples are found to be a balanced translocation carrier. We report a case in which the mother was identified to be a translocation carrier following the birth of a baby with multiple congenital abnormalities.

Fulltext A review of cervical cancer research in Malaysia

Zaridah S

Med J Malaysia, 2014 Aug;69 Suppl A:33-41.

PMID: 25417949 MyJurnal

Despite cervical cancer being potentially preventable, it is the second most common cancer among women in Malaysia. One hundred and five articles related to Cervical Cancer were found in a search through a database dedicated to indexing all original data relevant to medicine published in Malaysia between the years 2000-2013. Fifty seven articles were selected and reviewed for the articles' clinical relevance and future research implications. This article reviews the various aspects of cervical cancer in Malaysia, mainly persistent infection of high risk human papillomavirus (HPV), primary prevention (HPV vaccination), screening method (Pap smear issues), and the attitude and knowledge of various groups of Malaysian women that contributed to the failure to reduce the incidence and mortality of cervical cancer. Most of the studies focused on prevention, Pap smear issues, HPV DNA testing, HPV vaccination and various recommendations for prevention of cervical cancer. Secondary prevention by screening is still an important aspect because even with HPV vaccination, screening still plays an important role as vaccination does not cover all high risk HPVs. There is a need to seriously consider a properly organised screening programme, taking into consideration what we already know about the attitude and knowledge of Malaysian women, economic factors and psychosocial issues of the screening method. There is also a large gap in clinical studies on the outcome, management and survival of cervical cancer patients in Malaysia.

Fulltext Racial differences in the fasting lipid profile of healthy Malaysians

Zaraihan S, Azman AB, Tariq AR

Med J Malaysia, 1994 Dec;49(4):355-63.

PMID: 7674971

The fasting lipid profile of a sample of Malays, Chinese and Indians in Peninsular Malaysia was studied to see whether these might explain differences in the rate of coronary heart disease mortality amongst the three ethnic groups. Fifty healthy subjects were studied from each of the three groups. They were matched for age, body mass index, gender and smoking habits, if any. The total cholesterol/HDL-cholesterol ratio and LDL-cholesterol/HDL-cholesterol ratio were found to be statistically higher in the Indians than in the Malays and the Chinese. The differences between the Indians and the Chinese were statistically more significant than the differences between the Indians and the Malays. Our findings may partially explain the higher predisposition of the Indian community in Malaysia to CHD mortality and are consistent with those of other studies performed on Indian communities living outside the Indian subcontinent.

Fulltext External fixation versus internal fixation for closed unstable intra-articular fracture of the distal radius. Early results from a prospective study

Zamzuri Z, Yusof M, Hyzan MY

Med J Malaysia, 2004 Mar;59(1):15-9.

PMID: 15535330

This is a prospective study of a series of 26 patients with closed unstable comminuted intra-articular fracture distal end of the radius treated with two different methods of treatment to compare their anatomical and functional results. The external fixation group consisted of 12 patients and internal fixation group consisted of 14 patients. The anatomical and functional assessments were performed at six months and one year. The anatomical results at six months and one year showed that the internal fixation group was effective in maintaining the reduction compared to the external fixation group. The radial height, volar tilt and radial inclination were well maintained. However, the functional results at six months and one year showedno differences between these two types of fixation. The complication rate was higher in external fixation group.

Fulltext LINAC based radiosurgery and radiotherapy for neurosurgical diseases: what have we learnt so far

Zamzuri I, Badrisyah I, Rahman GI, Pal HK, Muzaimi M, Jafri AM, et al.

Med J Malaysia, 2011 Oct;66(4):346-9.

PMID: 22299555 MyJurnal

Stereotactic radiosurgery uses a single fraction high dose radiation while stereotactic radiotherapy uses multifractionated lower dose focused radiation.

Fulltext Polymodal therapy for high grade gliomas: a case report of favourable outcomes following intraoperative radiation therapy

Zamzuri I, Rahman GI, Muzaimi M, Jafri AM, Nik Ruzman NI, Lutfi YA, et al.

Med J Malaysia, 2012 Feb;67(1):121-2.

PMID: 22582564 MyJurnal

High grade gliomas, frequently with their infiltrative nature, often make the outcome from neurosurgical intervention alone unsatisfactory. It is recognized that adjuvant radiochemotherapy approaches offer an improved prognosis. For these reasons, we opted for surgical debulking, intraoperative radiation therapy (IORT) in combination with whole brain irradiation therapy and chemotherapy (temozolamide cycles) in the management of a 42 year-old lady with Glioblastoma Multiforme (GBM). Her troublesome symptoms improved after 3 months of this polymodal therapy and remained independently functional for more than two years.

Fulltext Early Malaysian experience on the use of head and neck localizers in the precision radiotherapy of intra and extra cranial sites for first 28 cases

Zamzuri I, Idris NR, Mar W, Abdullah JM, Zakaria A, Biswal BM

Med J Malaysia, 2006 Dec;61(5):621-5.

PMID: 17623965 MyJurnal

Precision Radiotherapy at high doses require a fixed, referable target point. The frame system fulfills the required criteria by making the target point relocatable and fixed within a stereotactic space. Since December 2001, we have treated 28 central and peripheral nervous system lesions using either radiosurgery as a single high dose fraction or fractionated 3-dimensional conformal radiotherapy using a lower dose and a multi-leaf collimator. Various pathological lesions either benign or malignant were treated. Eighty six percent of our treated lesions showed growth restraint, preventing them from causing new symptoms with a median follow-up duration of 20.5 months. However, the true benefit from this technique would require a long-term follow-up to document the progress.

Fulltext Molecular genetic analysis of a supratentorial haemangioblastoma in a non-Von Hippel Lindau patient

Zamzuri I, Ghazali MM, Zainuddin N, Sulong S, Samarendra SM, Yusoff AAM, et al.

Med J Malaysia, 2005 Aug;60(3):360-3.

PMID: 16379193

We describe a rare tumor site in a 46 year old man who presented with a two week history of headache. Physical examination revealed bilateral papilloedema with no other localizing signs. Computed Tomographic Scan as well as Magnetic Resonance Imaging of the brain revealed a lesion with a dura tail located adjacent to the falx cerebri of the right frontal lobe. This lesion was not invading the inner table of the skull base. A tumor blush was seen on angiogram. There were no abnormalities on CT scan of the abdomen and fundoscopy was normal. Intraoperatively a vascular tumor not attached to the dura was noted and removed totally. Histopathological examination was typical of a hemangioblastoma. Analysis revealed no mutations of the VHL gene in 5 regions, exon 5-8 of the p53 gene, exon 1-2 of the p16 gene and exon 5,6 and 8 of the PTEN gene. This is the first case report of a supratentorial hemangioblastoma in a non-Von Hippel Lindau patient with genetic evidence.

Fulltext Congenital nasal encephalocele--a review of surgical techniques

Zamzuri I, Abdullah JM, Samsudin AR

Med J Malaysia, 2004 Oct;59(4):552-4.

PMID: 15779595

We report a case of a 6 month old baby boy who had congenital nasal encephalocele, repaired via the traditional staging procedure. The surgical techniques and procedures are described and discussed.

Fulltext A rare case of bleeding in a cerebellopontine angle epidermoid cyst

Zamzuri I, Abdullah J, Madhavan M, Ariff AR

Med J Malaysia, 2002 Mar;57(1):114-7.

PMID: 14569729

Epidermoid cysts of the central nervous system are described as rare, benign, slow growing lesions with a history of high rate of recurrence even after surgical removal. This lesion is rarely located at the cerebellopontine angle and is found to be composed of solid and cystic components with close adherence to vital neurovascular structures that might complicate its removal. We present a rare case of a twenty-five year old housewife with signs and symptoms of increased intracranial pressure due to the above pathology after multiple episodes of intra-tumoral bleeding. Microneurosurgical techniques were used for tumour dissection and excision. The patient recovered well after a three-year follow-up. This is the fourth example in the index medicus of bleeding seen in a histopathologically proven cerebellopontine angle intraepidermoid cyst.

Factors associated with ultrasound diagnosed neurogenic bladder complications following spinal cord injury

Zamli AH, Mustafah NM, Sa'at N, Shaharom S

Med J Malaysia, 2020 11;75(6):642-648.

PMID: 33219171

INTRODUCTION: Neurogenic bladder (NB) is a recognized secondary medical impairment following spinal cord injury (SCI). Ultrasound (US) of the kidneys, ureters and bladder (KUB) has been recommended as a useful, non-invasive surveillance method with good diagnostic sensitivity. This study aims to understand US diagnosed NB complications and identify its associated factors.

METHODS: We enrolled all patients referred for SCI rehabilitation from 2012 to 2015 that fulfilled our study criteria. Data that were retrospectively reviewed included demographic and clinical characteristic data; and US KUB surveillance studies.

RESULTS: Out of 136 electronic medical records reviewed, 110 fulfilled the study criteria. The prevalence of NB in our study population was 80.9%. We found 22(20%) of the patients showed evidence of US diagnosed NB complications with the mean detection of 9.61±7.91 months following initial SCI. The reported NB complications were specific morphological changes in the bladder wall 8(36.4%); followed by unilateral/bilateral hydronephrosis 7(31.8%); bladder and/or renal calculi 5(22.7%); and mixed complication 2(9.1%) respectively. Half of the patients with NB complications had urodynamic diagnosis of neurogenic detrusor overactivity with/without evidence of detrusor sphincter dyssynergia. We found co-existing neurogenic bowel, presence of spasticity and mode of bladder management were significantly associated factors with US diagnosed NB complications (p<0.05), while spasticity was its predictor with adjusted Odds Ratio value of 3.93 (1.14, 13.56).

CONCLUSION: NB is a common secondary medical impairment in our SCI population. A proportion of them had US diagnosed NB complications. Co-existing neurogenic bowel, presence of spasticity and mode of bladder management were its associated factors; while spasticity was its predictor.

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