Granulomatosis with polyangiitis (GPA), previously Wegener's granulomatosis, requires prompt diagnosis and systemic review to exclude life-threatening disease. However, early diagnosis of orbital GPA may be difficult because anti-neutrophil cytoplasmic antibody (ANCA) and anti-PR3 antibody screening can be negative at presentation and orbital biopsies taken for diagnosis may not show the classic features of GPA. This study was designed to compare GPA with other causes of orbital inflammation and to identify the presenting clinical and imaging features most likely to predict GPA and its systemic spread.
Matched MeSH terms: Orbital Diseases/diagnosis*; Granulomatosis with Polyangiitis/diagnosis*; Microscopic Polyangiitis/diagnosis*
Jeavons syndrome (JS) is one of the underreported epileptic syndromes and is characterized by eyelid myoclonia (EM), eye closure-induced seizures or electroencephalography (EEG) paroxysms, and photosensitivity. In the Western populations, it has been reported to be characterized by focal posterior, occipital predominant epileptiform discharges (OPEDs) or frontal predominant epileptiform discharges (FPEDs) followed by generalized EDs in both interictal and ictal EEG recordings. However, it is not clear if there are different clinical manifestations between OPEDs and FPEDs. The clinical and electrographic presentations in the Chinese population are largely unknown. Here, we report the clinical and electroencephalographic features of 50 Chinese patients with JS and evaluate for the presence of different clinical features between patients with OPEDs and patients with FPEDs.
We report a 29-year-old Malay man who had pulmonary manifestations as an initial presentation for systemic lupus erythematosus. He had prolonged hospitalization and was treated with intensive care therapy with immunosuppressants.
Pulmonary alveolar microlithiasis (PAM) is a rare chronic disease with paucity of symptoms in contrast to the imaging findings. We present a case of a 24-year-old Malay man having an incidental abnormal pre-employment chest radiograph of dense micronodular opacities giving the classical "sandstorm" appearance. High-resolution computed tomography of the lungs showed microcalcifications with subpleural cystic changes. Open lung biopsy showed calcospherites within the alveolar spaces. The radiological and histopathological findings were characteristic of PAM.
Synchronous primary non-small cell lung cancers (NSCLC) are rare and may be discovered unexpectedly following lung resection. Discrimination from intrapulmonary metastases is important to guide treatment and prognosis but is difficult solely on clinical or radiological findings. Histopathological evaluation with immunohistochemistry (IHC) markers can prove decisive and should feature in the diagnostic algorithm of such patients. We report a rare case of two synchronous primary NSCLCs diagnosed post operatively following pathological examination of the resected lobe, highlighting the value of IHC and discuss the management of such patients.
BACKGROUND: Worldwide, the population is ageing, resulting in an associated increase in dementia prevalence. Forgetfulness in elderly people is often perceived as normal in some local cultures and thus, the early detection of dementia in primary care requires detection of symptoms other than memory complaints.This study was conducted to screen elderly patients for early dementia in primary care using a newly developed Early Dementia Questionnaire (EDQ) and comparing it with a standard assessment tool, the Mini Mental State Examination (MMSE).
METHODS: A cross-sectional study was conducted on a group of elderly patients using convenience sampling of consecutive patients. Elderly depression was excluded using the Geriatric Depression Scale (GDS). Exclusion criteria also included known cases of dementia. Inclusion criteria included a score of 5 or less in GDS and the presence of a reliable informant. A face-to-face interview was done using the EDQ with the patient and informant to elicit symptoms of early dementia. If the informant was not present, a telephone interview was used instead. The patient was then assessed with the Mini Mental State Examination (MMSE) using a cut-off point of 21.
RESULTS: Prevalence of dementia among 155 subjects was 52.3% by EDQ and 15.5% by MMSE. The EDQ demonstrated a sensitivity of 79.2% with specificity of 52.7%. Positive predictive value (PPV) of EDQ was 23.5% with the negative predictive value (NPV) of 93.2%. The strongest predictor of possible early dementia was complaints of memory problems (OR 26.22; 95% CI 2.03-338.14) followed by complaints of concentration problems (OR 14.33; 95% CI 5.53-37.12), emotional problems (OR 4.75; 95% CI 1.64-13.81) and sleep disturbances (OR 3.14; 95% CI 1.15-8.56). Socio-demographic factors, medical problems and smoking status were not associated with possible dementia (p>0.05), despite that 60-70% of the elderly had chronic illnesses.
CONCLUSION: The EDQ is a promising alternative to MMSE for screening of early dementia in primary care.
Matched MeSH terms: Dementia/diagnosis*; Early Diagnosis*
Solid-pseudopapillary tumour (SPT) is a rare exocrine tumour of the pancreas and is considered to have low malignant potential. Few morphological criteria are used to predict malignant behaviour such as equivocal perineural invasion, angioinvasion and invasion to surrounding tissue, and should be designated as solid-pseudopapillary carcinoma (SPC). We report a case of SPC. Clinical and radiological findings are typical for SPT with no metastatic disease. There is no tumour recurrence after 4 months postresection. Clinical history and radiological findings were retrieved from the patient's record sheet and Viarad system. H&E staining and few immunoproxidase staining were reviewed by several pathologists. The histological findings are typical for SPT, with additional perineural invasion. There is no angioinvasion or capsular invasion identified. This is our first experience in diagnosing and managing SPC. We look forward to seeing the patient's disease status during her next routine follow-up. We expect good disease-free survival and very low risk of tumour recurrence, in view of only one risk factor (perineural invasion) and uninvolved surgical margins by the tumour.
Fistula formation following pelvic surgery and radiotherapy, including ureteric-arterial fistulas (UAF), is well documented, however, ureteric-arterial-enteric fistula is extremely rare. Conventional autopsy is usually required for the definitive diagnosis of pelvic vascular fistulas although an accurate diagnosis can still be complicated and challenging. The role of post-mortem computed tomography (PMCT) as an adjunct to conventional autopsy is well documented in the literature. One of the limitations of PMCT is the diagnosis of vascular conditions. Post-mortem computed tomography angiography (PMCTA) is a recently introduced technique that can assist in detecting such pathology. We present a case of post-radiotherapy ureteric-arterial-enteric fistula presenting as massive rectal and vaginal bleeding diagnosed prior to autopsy on PMCTA. The role of PMCTA in the diagnosis of such a UAF has not previously been reported in the literature.
We report a case of a healthy 78-year-old indonesian man who presented with chronic weight loss, poor appetite and lethargy. CT abdomen showed bilateral adrenal masses. EUS-guided FNA was performed on the left adrenal gland. Histopathology report was Histoplasma Capsulatum. He recovered well with antifungal treatment without any complication. In this case, we found that the role of EUS -guided FNA was not only limited to diagnosis but also helped in the prognosis of the disease since the method was able to assess the general anatomy of the adrenal gland better than other imaging modalities due to its close proximity and direct visualization.
A 10 year-old Iban girl presented with severe odynophagia for 4 days and subcutaneous emphysema. Clinically, her neck was tender with crepitus. Lateral neck radiograph showed multiple linear radiolucent shadows at retropharyngeal space. Flexible nasopharyngolaryngoscope revealed a tunnel behind upper oesophagus with slough and there was pooling of saliva at pyriform sinus. Feeding via nasogastric tube was started and empirical treatment for fungal and bacterial infection was commenced. Subsequent computed tomography of neck and thorax showed a 15-long blind tract at subglottic region posterior to oesophagus (prevertebral region), extending to superior mediastinum just before carina at T3/T4 level, represent abscess. Hourly suctioning of the remaining abscess in the blind tract with 10ml-syringe was done.
Branchial cleft anomalies result from abnormal persistence of branchial apparatus, which is located at the lateral part of the neck. These occur due to failure of obliteration of the branchial apparatus during embryonic development. Differential diagnoses of lateral neck mass are salivary gland or neurogenic neoplasms, paragangliomas, adenopathies, cystic hygroma or cystic metastasis from squamous cell carcinoma or thyroid papillary carcinoma. Clinically, a branchial cyst is smooth, round, fluctuant and non-tender, and usually occurs over the upper part of the neck, anterior to the sternocleidomastoid muscle. Sometimes, it may present as infected cyst (or abscess), a sinus or fistula. Surgical excision is the definitive treatment for branchial anomalies. The objective of the work was to study the demographic data, clinical presentation, definite diagnostic workup and treatment of patients diagnosed with branchial anomalies. This is a retrospective study of 26 patients who were diagnosed with branchial anomalies (branchial cyst and fistula), of which only 12 patients had data available between July 1999 and June 2009 at the Otorhinolaryngology, Head and Neck Surgery, Universiti Kebangsaan Malaysia Medical Centre. Twelve cases of branchial anomalies were seen, in which 10 patients had second branchial cyst anomalies, 1 had third branchial fistula and 1 had bilateral branchial lesion. There were seven females and five males. The age of the patients varied over a wide range (4-44 years), but the majority of the patients were in their second and third decade of life. All branchial anomalies occurred at the classical site; eight patients had left-sided neck lesion. Correct clinical diagnosis was made only in five patients (41.6 %). All patients underwent surgical excision with no reported recurrence. Branchial anomalies are frequently forgotten in the differential diagnosis of lateral neck swelling. Diagnosis is usually delayed, leading to improper treatment. The diagnosis of patients who present with lateral neck cystic swelling with or without episodes of recurrent neck abscess should be considered with a high suspicion for branchial anomalies. FNA cytology is a good investigative tool in reaching toward a diagnosis of branchial lesion, with the concurrent assistance of radiological modalities. Surgical excision is the gold standard treatment of lesions of branchial anomalies.
We present a 35-year-old man with a preoperative diagnosis of a right lower lobe cystic mass. Misled by a radiological suggestion of an intraparenchymal lesion, he had a thoracotomy and right lower lobectomy. An intraoperative finding of a pedunculated cyst arising from the parietal pleural with subsequent histopathology confirmation of a benign bronchogenic cyst, however, would have made a less invasive surgical excision more appropriate.
BACKGROUND: Osteoporotic fracture is a major health burden. Early diagnosis and management would improve the quality of life and reduce costs to the society.
OBJECTIVE: We aimed to identify risk factors associated with osteoporosis followed by development and validation of a screening tool in the hope of providing an appropriate regime to detect low bone density (BMD) in Malaysia.
METHODOLOGY: Between November 1999 and November 2002, 514 healthy women aged ≥ 45 with intact uterus, non-HRT users were recruited. Following BMD testing, a screening tool was developed. For validation, 72 women were recruited from June 2003 to December 2003.
RESULTS: Age and a longer duration postmenopause were negatively linked to BMD. Higher family income, BMI, waist and hip circumference were positively correlated. A score of ≥ 4, the screening tool had a sensitivity of 73.2%, a specificity of 61.6% for identifying women with low BMD (T score ≤ -2) plus a sensitivity of 80.2% in selecting women with osteoporosis. The tool enabled a 45.9% reduction in unnecessary DEXA testing. Validation of the screening tool showed a negative predictive value of 97.8%, sensitivity and specificity of 87.5% and 70.3%, respectively.
CONCLUSION: The Malaysian Osteoporosis Screening Tool (MOST) is relatively simple. Its usage may reduce unnecessary DEXA test.
Matched MeSH terms: Osteoporosis/diagnosis*; Osteoporosis, Postmenopausal/diagnosis*; Early Diagnosis
This paper reports on work undertaken to improve automated detection of bile ducts in magnetic resonance cholangiopancreatography (MRCP) images, with the objective of conducting preliminary classification of the images for diagnosis. The proposed I-BDeDIMA (Improved Biliary Detection and Diagnosis through Intelligent Machine Analysis) scheme is a multi-stage framework consisting of successive phases of image normalization, denoising, structure identification, object labeling, feature selection and disease classification. A combination of multiresolution wavelet, dynamic intensity thresholding, segment-based region growing, region elimination, statistical analysis and neural networks, is used in this framework to achieve good structure detection and preliminary diagnosis. Tests conducted on over 200 clinical images with known diagnosis have shown promising results of over 90% accuracy. The scheme outperforms related work in the literature, making it a viable framework for computer-aided diagnosis of biliary diseases.
Matched MeSH terms: Bile Duct Diseases/diagnosis; Diagnosis, Computer-Assisted/methods
Dermatomyositis is a rare rheumatic disease which predominantly affects the muscles and skin requiring a protracted course of immunosuppressants which may predispose the patients to opportunistic infections. A 49-year-old lady was diagnosed to have dermatomyositis in August 2010 based on history, significantly raised creatine kinase level and muscle biopsy findings. She had recurrent admissions due to fever, myalgia and muscle weakness. She had spiking temperature despite high dose steroids, broad-spectrum antibiotics and antifungal agents. This prompted extensive investigation which leads us to the additional diagnosis of disseminated tuberculosis involving the lungs, muscles and bones. This case demonstrates the challenge in controlling the disease activity of dermatomyositis with immunosuppressants in the setting of disseminated tuberculosis.
BACKGROUND: Patients' delay in the presentation with rectal bleeding had been identified as a factor for late diagnosis of colorectal cancer. This study was conducted to determine the prevalence of delay in consulting a medical practitioner and identifying associated factors.
MATERIALS AND METHODS: A cross-sectional study of 80 patients with rectal bleeding, aged 40 and above, was conducted between December 2008 and June 2009 in the endoscopy unit, University Kebangsaan Malaysia Medical Centre. The self-administered questionnaire included data on sociodemographic, concern of rectal bleeding, whether patients sought initial advice, any self treatment prior to medical consultation and patients' opinion on causes of their own rectal bleeding.
RESULTS: The prevalence of delay in the presentation of rectal bleeding was 60%. Patients who were less worried (OR 9.6; 95% CI 3.3-27.5), who did not seek anyoneandapos;s advice (OR 11.8; 95% CI 3.8-36.8) and took some treatment before seeking medical consultation (OR 5.0; 95% CI 1.0-24.1) were significantly more likely to delay. Multiple logistic regression revealed that less worry of rectal bleeding and not seeking anyoneandapos;s advice were important predictors (p<0.05). The majority of patients attributed their bleeding to benign causes.
CONCLUSION: A high proportion of patients with rectal bleeding in the high risk group delayed in seeking medical advice. Public education needs to focus on interventions to reduce the delay in presenting and diagnosis of colorectal carcinoma.
This paper aims at identifying the factors that would help to diagnose acute myocardial infarction (AMI) using data from an electronic medical record system (EMR) and then generating structure decisions in the form of linguistic fuzzy rules to help predict and understand the outcome of the diagnosis. Since there is a tradeoff in the fuzzy system between the accuracy which measures the capability of the system to predict the diagnosis of AMI and transparency which reflects its ability to describe the symptoms-diagnosis relation in an understandable way, the proposed fuzzy rules are designed in a such a way to find an appropriate balance between these two conflicting modeling objectives using multi-objective genetic algorithms. The main advantage of the generated linguistic fuzzy rules is their ability to describe the relation between the symptoms and the outcome of the diagnosis in an understandable way, close to human thinking and this feature may help doctors to understand the decision process of the fuzzy rules.
We report a series of six immunocompetent patients who were believed initially to have primary bone sarcomas, but turned out to have subacute osteomyelitis.