IIUM Medical Journal Malaysia (IMJM)
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Clinical And Genetic Study of The Sptlc1 Gene Mutation in Patients With Heridetary Sensory Neuropahty Type 1
Get PDFIntroduction: Hereditary sensory neuropathy type 1 (HSN1) is the most common hereditary disorder of peripheral sensory neurons. Materials and methods: This study was carried out on 15 patients with hereditary sensory neuropathy type-1 and 10 healthy individuals as a control group. Detailed family history and thorough clinical and neurological examination were performed to all patients. Nerve conduction velocity of ulnar and lateral popliteal nerves (motor and sensory) as well as audiograms was carried out for all members of the studied groups. The laboratory study included the determination of serum C-reactive protein (CRP) and serum nucleasomes as well as molecular detection of the serine palmitoytransferase (SPTLC-1) gene mutations for all studied groups. Results: There was predominance in male who developed more sever clinical manifestations than females. The disease onset was in the second and third decades of life. Patients with HSN 1 manifested reduced conduction velocity in both motor and sensory fibers of the lateral popliteal nerve (p< 0.01) however the ulnar nerve was spared (p = 0.61). Audiometry revealed bilateral partial nerve deafness in 3 cases and complete deafness in one case. Serum CRP and nucleosomes were significantly elevated in all patients as compared to the control group (p < 0.01). The genetic study revealed mutations of the SPTLC1 in all studied patients compared to the control group. Point mutation C133W was observed in younger patients having severe clinical manifestations with prominent leg ulceration, while the point mutation C133Y was observed in the older patients complaining of hearing loss. The mutation V144D was found in patients with mild clinical presentation having minimal ulceration and no hearing abnormalities. Conclusion: The SPTLC1 gene mutations play an important role in the pathogenesis and variability in clinical presentation of HSN1 disease
Smoker Desaturation during General Anaesthesia: A Case Report
Get PDFWe report a case of sudden hypoxaemia after intubation in a patient who had smoked a few hours prior to a surgical procedure. The cause of his desaturation was not related to bronchial secretions, bronchospasm or obstruction of the upper airways but most likely due to reduced oxygen saturation in the body prior to surgery. We managed to secure the airway and prevent prolonged desaturation by instituting remedial measures. Our conclusion is that cessation of smoking is very important and need to be emphasized in all patients having surgery under general anaesthesia. This applies to emergency cases as well
Spontaneous Thrombosis of Dural Arteriovenous Malformation: A Case Report
Get PDFDural arteriovenous malformation (DAVM) is relatively rare and defined as abnormal connections or shunts between the arterial and the venous side of vascular tree located within the dura mater. Spontaneous closures of DAVM are rare and have been scarcely reported. This case report will describe the neuroimaging findings and classification of DAVM. A 50 year old lady presented with headache. Neuroimaging showed prominent serpinginous flow-void structures, cerebral angiogram confirmed the presence of DAVM at the occipital region. She had defaulted treatment and follow up for 3 years. On second admission, she had a cerebral angiogram which showed normal findings with no evidence of fistulas or malformation. She was discharged well. Causes of spontaneous closure of DAVM are discussed
Breastfeeding practices among slum mothers: a multivariate statistical analysis
Get PDFIntroduction: The aim of this study was to determine the differential patterns of mean duration of breastfeeding among mothers from slum areas in Rajshahi City, Bangladesh by using the multiple classification analysis (MCA). Materials and Methods: The data for this study was collected from mothers from slum areas of 8 different slums of Rajshahi City Corporation who had had at least one child at the time of interview. Results: We showed that the overall mean duration of breastfeeding was 24.66 months for all women, which may show considerable impact on fertility around slum areas in near future. Conclusion: Of all the selected variables in MCA, it was seen that the current age of the children and the body mass index of the respondents appear as the strongest important determinants of duration of breastfeeding and other variables play relatively less important role on the duration of breastfeeding
C1 and C2 vertebrae osteomyelitis: A misleading presentation leading to a fatal outcome
Get PDFCervical vertebral osteomyelitis is rare. While an early and correct diagnosis is critical to prevent catastrophic neurological injury, the diagnosis of cervical vertebral osteomyelitis is often difficult because of its rarity and variable symptoms. We present a case of C1 and C2 vertebrae osteomyelitis with a misleading presentation and its fatal outcome
Major cellular events in peripheral nerve regeneration: A brief overview
Get PDFInjury to a peripheral nerve leads to degeneration of the segment distal to the site of lesion, a process referred to as Wallerian degeneration. During Wallerian degeneration, axons and myelin sheaths undergo degeneration and are phagocytosed by macrophages and Schwann cells. The Schwann cells proliferate and the endoneurial tubes persist, together the whole structure is known as the band of Büngner. Within few hours, the damaged axons in the proximal stump initiate a regeneration response, with formation of new growth cones. During Wallerian degeneration, neurotrophins, neural cell adhesion molecules, cytokines and other soluble factors are upregulated to facilitate regeneration. The recovery of the target in mammals is often variable, but almost never complete. In humans, scar tissue forms at the site of lesion and this often results in poor recovery of the target. The major events underlying this regenerative process is highlighted and discussed in this review
Solitary Skull Metastasis as Initial Manifestation of Hepatocellular Carcinoma – A Case Report
Get PDFMetastatic spread of tumors to the skull is quite unusual and often represents diagnostic and therapeutic issues. Skull involvement can be observed in various neoplasms of epithelial origin and are most often due to lung, breast, thyroid, kidney and prostate cancers. However, skull metastases from hepatocellular carcinoma (HCC) have been rarely reported. The prognosis for patients with hepatocellular carcinoma is so poor that treatment of such distant metastatic lesion cannot be achieved before death occurs due to the primary malignancy. Therefore, the clinical manifestations of cranial metastasis prior to that of primary hepatocellular carcinoma have rarely been reported. This case illustrates a rare case of skull metastasis as an initial manifestation of hepatocellular carcinoma. Although a solitary skull metastasis prior to the diagnosis of HCC demonstrates rare metastatic behavior for HCC, especially in Asia, skull metastases from HCC should be included in the differential diagnosis of skull tumors, even if the patient is asymptomatic of liver cirrhosis
Knowledge, attitude and practice on breastfeeding in Klang, Malaysia
Get PDFIntroduction: In Klang, a district in the state of Selangor in Peninsular Malaysia, the effects of westernization and urbanization in recent years have had an impact on infant feeding. The objective of this study was to evaluate the practice, knowledge and attitude to breastfeeding and to assess factors associated with breastfeeding among women in Klang, Malaysia. Materials & Methods: A cross-sectional study was carried out between June and October 2006 involving 220 women with infants aged six months from two randomly selected health clinics were selected and interviewed. Data on socio-demographic, infant factors, infant feeding in the first six months of life, knowledge and attitude towards breastfeeding were collected. Results: Exclusive breastfeeding was reported by 32.8%, mixed feeding was reported by 14.5% and infant formula feeding was reported by 52.7% of the respondents. Chinese women were more likely not to practice exclusive breastfeeding compared to Malay women (odds ratio 18.27, 95% CI: 3.95, 84.54) while working women were more likely not to practice exclusive breastfeeding compared to non working women (odds ratio 3.75, 95% CI: 1.64, 8.55). Positive association with not exclusive breastfeeding included women with high household income and women with male infants. Malaysian women had a positive attitude but work place and short maternity leave had a negative impact on breastfeeding. Conclusion: Women of Chinese ethnicity, working, from high family income and with male infants were less likely to exclusively breastfeed. Adopting facilitatory measures at hospitals and work place could increase the rate of exclusive breastfeeding
Inflammatory Pseudotumour of Stomach in an old lady: a rare case report
Get PDFInflammatory pseudotumour (IPT) is a rare benign solid tumor in adults and children. The prevalence, etiology and pathogenesis of this condition are still uncertain. Despite the use of modern laboratory techniques and imaging, it is often difficult to make the diagnosis of IPT. Besides, occasionally the nonspecific morphological appearance and clinical presentation of the mass may mimic other more common primary or secondary neoplasms. IPT is commonly encountered in the lung and mediastinum. Other sites include abdomen (liver, pancreas, stomach, omentum), retroperitoneum, pelvis (bladder) and extremities in children. We report a rare case of gastric inflammatory pseudotumour in a 65-year-old female patient. Clinical presentations and its management along with review of literatures are presented