Congenital cholesteatoma (CC) is rare clinical condition and It is known as a pearly white mass medial to an intact tympanic membrane. In this case report, we describe a 6-year-old boy who presented with a one year history of left ear discomfort, reduced hearing, followed by ear discharge two months prior to admission. Otoscopic examination revealed a large attic perforation. Radiological investigation showed extensive cholesteatoma in the mastoid, mesotympanum and epitympanum with destruction of the ossicles including the stapes footplate. He underwent radical mastoidectomy in view of extensive cholesteatoma with tympanoplasty type V. In this case report, the classification, treatment and theories related to CC are discussed.
The human genome contains many submicroscopic copy number variations which includes deletions, duplications and insertions. Although conventional karyotyping remains an important diagnostic tool in evaluating a dysmorphic patient with mental retardation, molecular diagnostic technology such as array comparative genomic hybridization (aCGH) has proven to be sensitive and reliable in detecting these submicroscopic anomalies. A 3 month-old infant with dysmorphic facies, microcephaly and global developmental delay was referred for genetic evaluation. Preliminary karyotyping which was confounded by the quality of metaphase spread was normal; however, aCGH detected a 30.6Mb deletion from 5p15.33-p13.3. This case illustrates the usefulness of aCGH as an adjunctive investigative tool for detecting chromosomal imbalances.
The t(8;21)(q22;q22) is a frequently occurring aberration in acute myeloid leukemia (AML) (18-20%) and usually correlate with French-America-British (FAB) M2 subtype. Several studies showed that patients carrying this abnormality demonstrated good response to standard chemotherapy but also have a high incidence of disease relapse. Trisomy 4 is a rare and specific chromosomal abnormality occurring in AML M2 or M4 of the FAB subtypes. We report a case of a 33-year-old female with an apparently clinical and hematologic diagnosis of acute promyelocytic leukemia (APL) in whom cytogenetic analysis revealed an abnormal karyotype with trisomy 4, in addition to t(8;21). Trisomy 4 and t(8;21) in a patient with AML is rare. The significance of t(8;21) with trisomy 4 in AML are unclear but patients bearing this abnormality are associated with a poor prognosis.
Thymomas comprise about 1% of all mediastinal tumours and are rare in children. Typically, these tumours are aggressive, with a poor outcome. The current treatment of invasive thymoma is often multidisciplinary. We report a 16-year-old boy with invasive thymoma who was successfully treated with systemic chemotherapy, surgical resection and irradiation. The patient has been in continuous remission for 6 years without radiographic evidence of tumour recurrence.
There are three types of papilloma which arises from the Schneiderian membrane namely inverted, fungiform and oncocytic. Oncocytic papilloma is the rarest type and occurs predominantly in the older age group. Clinically, its behaviour is similar to inverted papilloma in having both local recurrence and associated malignancy. We report a rare case of oncocytic papilloma arising from the maxillary sinus, extending into the nasal cavity and nasopharynx, in a 78-year-old lady. Despite the longstanding history there was no evidence of associated malignancy in this lesion. An endoscopic medial maxillectomy was successfully utilized for approach and complete tumour excision. In conclusion, oncocytic papilloma should be considered as a differential diagnosis in patients presenting with unilateral polypoid nasal lesions especially in the elderly. In addition, endoscopic medial maxillectomy can provide an adequate approach for complete tumour removal.
Despite evidence showing that structured rehabilitation after stroke improves functional outcomes, providing seamless rehabilitation from hospital to community has been elusive. The service provided should be able to accommodate variable degree of impairments and needs of the stroke survivors. This study aimed to assess the outcome of a multidisciplinary-based outpatient rehabilitation service for stroke patients living in the community. Patients who were discharged from Universiti Kebangsaan Malaysia Medical Centre after an acute stroke were referred to the Combined Stroke Rehabilitation Clinic (CSRC). Post stroke patients were assigned individually designed programs which were problem based and used task specific activities to achieve desired goals. Patients were reviewed on a regular basis either up to completion of the 2 year program, or are able to be discharged to the community, whichever is earlier. Modified Barthel Index (MBI) and Berg Balance Scores (BBS) were used for monitoring. A total of 68 patients were managed in CSRC for two years since its initiation, with mean age of 62.4 years (SD 12.4) with the mean duration of stroke when first reviewed in CSRC was 11.5 months (SD 11.9). Majority of patients (64.7%) received either two or three types of intervention. Both MBI and BBS demonstrated significant improvement over 12-months period (p value of 0.006 and 0.017 respectively). CSRC proved that structured rehabilitation intervention was beneficial in terms of functional status and improvement in balance to post-stroke patients.
Study site: Combined Stroke Rehabiltation clinics, Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Kuala Lumpur, Malaysia
Amitraz poisoning is rare and there has been no reported cases in the Malaysian literature. Ingestion of this compound carries many life threatening side effects. We describe a case of Amitraz poisoning in an 18 years old young adult. He developed hypotension, required ventilatory support and a day of intensive care unit stay. He had a quick recovery after he was treated symptomatically and was discharged well after 3 days.
Primary fallopian tube carcinomas are rare and are difficult to diagnose preoperatively.
We describe a fallopian tube carcinoma in a 50-year-old lady who presented with symptoms of pelvic inflammatory disease. Ultrasound examination showed bilateral hydrosalphinx. However, CT scan showed features suggestive of a malignant ovarian tumour. At surgery, a markedly dilated left fallopian tube was found and histopathological examination confirmed the presence of a primary serous adenocarcinoma. The uterus and both ovaries were free of tumour. This report highlights that carcinoma of the fallopian tube should be considered as a differential diagnosis in females who present with lower abdominal pain.
Keupayaan Centella asiatica (CA) untuk bertindak sebagai antioksidan dan agen anti-radang telah banyak dilaporkan. Namun begitu, kaedah pengekstrakan CA untuk memperoleh hasil yang terbaik masih dipersoalkan. Dalam kajian ini, kami menilai tiga kaedah pengekstrakan CA dan membuat perbandingan ekstrak dari segi aktiviti antioksidan dan anti-radang, dan juga kandungan sebatian bioaktif, asiaticoside dan madecassoside. Centella asiatica diekstrak menggunakan pelarut etanol, metanol dan juga air. Kandungan sebatian fenolik ekstrak diukur menggunakan kaedah reagen Folin-Ciocalteu. Kandungan asiaticoside dan madecassoside ditentukan dengan kaedah HPLC. Aktiviti antioksidan diukur dengan asai 2,2-diphenyl-1-picrylhydrazyl (DPPH) dan asai penurunan kuasa Ferric Reducing Antioxidant Power (FRAP). Aktiviti anti-radang ditentukan dengan kebolehan ekstrak untuk merencatkan enzim tapakjalan keradangan, COX-1 dan COX-2, serta kebolehan ekstrak melindungi sel fibroblas aruhan 12-O-tetradecanoylphorbol-13-acetate (TPA) daripada menghasilkan prostaglandin E2 (PGE2 ). Hasil kajian menunjukkan aras sebatian fenolik, asiaticoside dan madecassoside tertinggi dalam ekstrak etanol, diikuti metanol dan esktrak akues (masing-masing 17.76 g/100g, 15.52 g/100g, 13.16 g/100g untuk sebatian fenolik, 42.86 mg/g, 36.37 mg/g, 2.82 mg/g untuk asiaticoside and 18.66 mg/g, 15.87 mg/g, 3.75 mg/g untuk madecassoside). Ketiga-tiga ekstrak menunjukkan aktiviti antioksidan sederhana berbanding kawalan positif. Kesemua ekstrak, asiaticoside dan madecassoside merencat COX-1 dan COX-2 dan menyekat penghasilan PGE2 -aruhan TPA. Ekstrak etanol dan metanol merupakan perencat COX yang lebih kuat dan lebih poten daripada ekstrak akues. Oleh itu, walaupun ekstrak akues menunjukkan kebolehan antioksidan yang lebih tinggi, dari segi aktiviti anti-radang, pelarut hidrofobik iaitu etanol dan metanol ternyata lebih baik untuk mengekstrak Centella asiatica.
The causes of an isolated prolonged activated partial thromboplastin time (APTT) with a normal prothrombin time (PT) are either a deficiency of clotting factors VIII, IX, XI or XII or the presence of an inhibitor. The inhibitor may be specific to an individual clotting factor or it may be a non-specific inhibitor like the lupus anticoagulant which has opposite therapeutic implications. We report a patient referred to our hospital for treatment that was previously diagnosed at another medical institution as an acquired factor IX inhibitor following an investigation for a prolonged APTT. On further testing this turned out to be a potent lupus anticoagulant which interfered with the phospholipid-dependent factor assays. The use of dilution studies, chromogenic assays and phospholipid neutralization can help differentiate these inhibitors. Great care must be taken in the interpretation of factor assays in the presence of lupus anticoagulant to avoid misdiagnosis and inappropriate treatment.
Leukaemic stem cells have heterogenous differentiation potential. The immunophenotypes of blast cells are usually consistent throughout the disease course even at relapse. Rarely, blast cells may undergo a ‘lineage switch’ during the course of disease especially during relapse. We would like to highlight such a case in a 10- year old boy who presented with a two weeks history of lethargy, poor appetite, low grade fever, respiratory distress, cardiac failure, generalized oedema and hepatosplenomegaly. Full blood count showed a leucocyte count of 41.5x10 9 /L and platelet count of 37x10 9 /L. The peripheral blood film showed presence of numerous blast cells. Bone marrow aspiration revealed a hypercellular marrow, which consisted of mainly blast cells with high nuclear to cytoplasmic ratio and inconspicuous nucleoli. Immunophenotyping and cytochemistry results were consistent with the diagnosis of Tcell acute lymphoblastic leukaemia. The patient achieved remission after treatment with UK ALL 97 protocol, regime B chemotherapy. However, he relapsed seven months after the initial diagnosis with 26% blast cells in the bone marrow aspirate. The majority was L1 blast cells admixed with some L2 blast cells. Immunophenotyping was consistent with common precursor B acute lymphoblastic leukaemia. The treatment was changed to a more lineage specific chemotherapy. Nonetheless, the patient never achieved remission and was planned for palliative management. This case illustrated a unique and rare case of rapid lineage switch from T-cell acute lymphoblastic leukaemia to common precursor B-cell acute lymphoblastic leukaemia.
Phytosterols are plant sterols with a chemical structure similar to cholesterol. It has anti-cholesterol, anti-cancer and anti-oxidant properties which are probably mediated by suppression of lipid peroxidation. However, there are limited studies on the effects of phytosterols on lipid peroxidation. The aim of this study is to determine the effects of phytosterols on plasma and tissue malondialdehyde (MDA) of rats exposed to carbon tetrachloride. The rats were divided into four groups of normal control (NC), carbon tetrachloride (CCl4), phytosterol (P) and phytosterol+carbon tetrachloride (P+CCl4).
The P and P+CCl4 groups were pretreated with subcutaneous phytosterol at 140 mg/kg once weekly for 5 weeks while the NC and CCl4 groups only received olive oil (vehicle). A single oral dose of carbon tetrachloride was then given to rats in the CCl4and P+CCl4 groups to induce lipid peroxidation. After 24 hours, all the rats were sacrificed and the plasma and tissue MDA were measured. Our results showed carbon tetrachloride had caused significant elevations of the plasma and hepatic MDA of the CCl4 group compared to the NC group. Phytosterol pretreatment (P+CCl4 group) were able to prevent the MDA elevations. Phytosterols treatments in normal rats (P group) were found to reduce the hepatic MDA level. The conclusion of this study was that phytosterols are effective suppressor of plasma and hepatic lipid peroxidation. They have potential as supplements to further reduce lipid peroxidation in healthy individuals.
The tetraspanin gene, CD151 is involved in various tumour cell progression and metastasis. Its expression is increased in high grade, estrogen receptor negative and c-erbB-2 positive breast cancer. However, the biological function and expression phenotype among different tumour status, estrogen receptor (ER) status, progesterone receptor (PR) status and c-erbB-2 expression in multi-ethnic Malaysian breast cancer patients has not been well investigated. We used quantitative real-time reverse transcriptase polymerase chain reaction (qRT-PCR) to measure the CD151 gene expression in 45 breast cancers. Our preliminary results revealed that CD151 expression is significantly higher in ER positive and PR positive breast cancers at 95% and 99% confidence intervals, respectively. In contrast, there is no significant correlation between CD151 expression and tumour grades or c-erbB-2 status at 95% confidence interval level. Our preliminary findings suggested that CD151 may be involved in the estrogen responsive pathways. CD151 could be a potential prognostic marker and therapeutic target in the treatment of estrogen dependent breast cancer patients.
Levonorgestrel (LNG) is a well-known safe and efficacious emergency contraception (EC). However, ectopic pregnancy following the failure of LNG-only EC has been reported. The exact incidence of ectopic pregnancy has been hindered by lack of data due to the fact that LNG-only EC is accessible at pharmacies without a prescription. We describe a case of ectopic pregnancy in an 18 year-old single woman who took LNG-only EC within 48 hours of unprotected sexual intercourse. She presented to the emergency department at 8 weeks period of amenorrhoea with an acute abdomen and hypovolaemic shock. Laparotomy confirmed a ruptured right tubal pregnancy and salpingectomy was performed. The patient was discharged well after 2 days. We aim to highlight this potential adverse effect and to discuss the plausible causality of ectopic pregnancy following administration of LNG-only EC.
Megakaryoblastic leukaemia is the commonest form of leukaemia occuring in Down syndrome infants. However, it’s subtype with translocation t(1;22)(p13;q13) is uncommon comprising
Aneusomy is an early genetic event and a characteristic feature of many solid tumors. It is often associated with poor prognosis in cancer patients. The involvement of PAX8-PPARγ rearrangement in tumorigenesis of follicular thyroid lesions has been widely assessed. However, there were few reports on aneusomy of the PPARγ gene at the 3p25 locus in follicular thyroid lesions. It remains undetermined whether these abnormalities can be translated into improved diagnosis, classification, or outcome prediction. Herein, we report three cases of follicular thyroid neoplasms [two follicular thyroid carcinomas (FTCs) and one Hurthle cell adenoma (HCA)] with 3p25 aneusomy detected by fluorescence in situ hybridization (FISH). 3p25 trisomy was observed in one FTC and one HCA while 3p25 tetrasomy was observed in one FTC. Furthermore, all three lesions did not show overexpression of PPARγ protein. Hurthle cell neoplasms (HCN) are distinct clinically and histologically from other follicular thyroid neoplasms (FTN). However, the presence of the aneusomy in HCA and FTC indicates that there could be a biological continuum between the two and chromosomal gains might play an important role in the pathogenesis of these two types of neoplasms. Despite their differences, HCN and FTN may share the same early genetic event in tumour development.
Dengue fever is a common pyrexial-viral infection in the Asian region and the incidence is increasing yearly. There are various ocular manifestations of dengue fever such as maculopathy, retinal hemorrhages, retinal lesions and vasculitis. Reduction in visual acuity and other visual disturbances such as metamorphopsia is the most common presentation of dengue-associated maculopathy. We report an interesting case of a young lady with bilateral maculopathy secondary to dengue fever who was managed conservatively with dramatic visual improvements. This case highlights the possibility of bilateral and simultaneous ocular involvements in patients infected with dengue fever. Both ophthalmologists and physicians need to be aware of ocular complications following dengue fever and advice patients regarding the symptoms.
Centrifugation of blood samples to produce platelet-poor plasma is one of the important steps for coagulation testing. Reduction of the time required for specimen processing without affecting quality of results should be ideal for tests which require immediate results. Centrifugation of platelet-poor plasma (3580 rpm) for 15 minutes performed for routine coagulation tests would prolong the turn-around time for an urgent test (30 minutes). This study was done to determine the effect of reducing centrifugation time for routine coagulation tests in order to meet the turn-around time (TAT) for urgent tests. Seventy-nine blood samples sent for routine coagulation tests, were assayed for prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen level and platelet counts, using two different centrifugation speed for plasma preparation: centrifugation at 3580 rpm for 15 minutes and rapid centrifugation at 4000 rpm for five minutes. Paired sample t-test showed that there was a significant
difference in the platelet count between the two groups (p=0.001). However, there was no significant difference in the normal APTT (p=0.16), abnormal APTT (p=0.80), abnormal PT (p=0.43) and the results of fibrinogen levels (p=0.36). In conclusion, rapid centrifugation at 4000 rpm for five minutes does not modify results of routine coagulation tests (PT, APTT and fibrinogen). It would be beneficial in providing rapid results for urgent coagulation tests.
Posterior urethral valve (PUV) commonly presents during infancy. We report a case of a 5-year-old boy with Down syndrome who was diagnosed to have PUV in late childhood. He presented with recurrent left epididymo-orchitis, an uncommon but recognized complication of PUV. Our aim is to discuss this rare and delayed presentation of PUV in particular amongst children with Down syndrome, method of diagnosis and complication of the disease if left untreated.
Human papillomavirus (HPV) plays an important role in the pathogenesis of cervical cancer. HPV has been found in 99.7% of cervical cancers worldwide. In Malaysia, it is the second most common cancer among women in all major ethnic groups. The main purpose of this study was to establish the method of SyBrGreen Real-Time PCR and apply it for identification of multiple infections of the two high risk HPV subtypes. In this study, 57 positive samples for HPV 16 and HPV 18 were used to establish a simple
and sensitive method to detect and identify HPV infection in the cervical neoplasia at different stages of the disease by using real-time ABICycler SyBrGreen 1 technology. The results showed 67 HPV genomes in 57 samples. HPV 16 genome was detected in 55/67 (82%) cases while HPV 18 was detected in 8/67 (12%) cases with 4 cases showing multiple infections of HPV 16 and HPV 18. HPV 16 was the most prevalent followed by HPV 18. Using SyBr Green Real-Time PCR techniques, the results
showed that DNA melting curve for HPV 16 had a peak around 80.2ºC and Ct value of 20 cycles whereas the DNA melting curve for HPV 18 around 79.2ºC and Ct value of 22 cycles. In conclusion, a SyBr Green Real-Time PCR method has the potential for clinical usage in detection and identification of HPV infection in cervical neoplasia at different stages of the disease.