A 17 year old male with ataxia telangiectasia [Louis-Bar Syndrome] is presented here with a review of the literature with regards to the mode of inheritance, clinical manifestations, diagnosis and treatment of this disorder.
Giant lipomatous lesions of the thigh swelling with extension into retroperitoneum are rare. Lesions can be malignant or benign and can have similar clinical presentation. Treatments options differ and their prognosis varies with histology. We present two cases of liposarcoma and lipoma with the same clinical presentations that underwent surgical resection.
Growing teratoma syndrome is rare and usually it occurs in the younger aged group. The use of chemotherapy following initial surgical resection will yield the diagnosis following tumour enlargement. Complete resection is usually curative and renders better prognosis.
Epilepsy is a common neurological disorder in childhood. In a majority, the cause of epilepsy remains a mystery in spite of extensive investigations. The aim of drug treatment is to effectively stop the seizures with minimum of side effects, causing no impairment of long term learning abilities of the child. Up to 30% of children with epilepsy may continue to have seizures in spite of adequate drug therapy. In this review, an overview of the recent advances that affect the diagnosis, prognosis and therapy of childhood epilepsy including the dilemmas of everyday practice is presented.
An analysis is made of parasite counts made on the first day of treatment in a series of 750 cases of acute subtertian malaria. The analysis affords data of the parasitological intensity of the subtertian infections prevalent in the Kuala Lumpur district of the Malay States during 2 years of normal malarial incidence and severity, and suggests:- 1. (a) That parasite counts made on the first day of treatment are of considerable prognostic reliability. 2. (b) That the counts made during the course of treatment are a useful guide to progress but are open to occasional fallacy. 3. (c) That the extreme limit of tolerance of Asiatic adults for the local strains of P. falciparum is probably in the region of three quarters of a million parasites per c.mm. of peripheral blood.
Age at onset (AAO) is a known prognostic indicator for schizophrenia and is hypothesized to correlate with cognition and symptom severity. TCF4 and AKT1 are schizophrenia risk genes involved in cognitive functions. The current study examined the interactive effects of TCF4 and AKT1 variants with gender, family history of psychiatric disorders and ethnicity on the AAO of schizophrenia.
Papillary thyroid carcinoma (PTC) associated with familial adenomatous polyposis (FAP) is rare. It is usually associated with the cribriform-morular variant of PTC, with unusual patterns on detailed histology examination. This variant is known to have a good prognosis. Papillary thyroid carcinoma associated with FAP commonly occurs in females in their 30s and rarely in the elderly. We report a case of a 69-year-old female presenting with thyroid swelling and a history of FAP.
Mesenchymal chondrosarcoma is a rare disease with poor prognosis. Treatment including wide or radical excision is very important. Radiotherapy and chemotherapy are additional treatment options, but no conclusive results for their efficacy have been shown until date. Imaging modalities can give important clues for diagnosis and management planning. Angioembolization before surgery could be useful as prophylaxis to control intraoperative bleeding, increasing the likelihood of complete resection.
Traumatic Brain Injury (TBI) in children has been poorly studied, and the literature is limited. We evaluated 146 children with severe TBI (coma score less than 8) in an attempt to establish the prognostic factors of severe TBI in children.
Presence of air in the kidney can be problematic as the location of the air in different parts of the kidney greatly affects the subsequent management and outcome of the patient. We present here a case of a patient who had emphysematous pyelitis, in which CT scan was able to display presence of air only in the collecting system, thus differentiating this condition from the more fulminant emphysematous pyelonephritis. This leads to a more favourable prognosis and outcome to the patient.
Myelodysplastic syndromes appear to be a rare group of blood disorders in Malaysia. It usually affects the elderly and some of the cases were reported to evolve into acute leukemia. We describe our experience with five cases, seen and managed by us over a 5-year period. All patients receiving supportive therapy died with one of them definitely known to transform to acute leukemia. The patient who survives till the time of writing received low dose continuous cytosine arabinoside infusion.
Primary cutaneous anaplastic large cell lymphoma (PC-ALCL) is relatively a rare tumour of head and
neck region. Without histopathological confirmation, it appears and behaved as like malignant epithelial tumor of
the head and neck region as will be illustrated in the present case. Cutaneous involvement of the tumor with
distant metastasis has made the prognosis unfavorable. This isolated case of head and neck PC-ALCL was
highlighted as it has a tendency to behave aggressively and early diagnosis and treatment is crucial to avoid poor
This paper offers a technique to construct a prediction interval for the future value of the last variable in the vector r of m variables when the number of observed values of r is small. Denoting r(t) as the time-t value of r, we model the time-(t+1) value of the m-th variable to be dependent on the present and l-1 previous values r(t), r(t-1), …, r(t-l+1) via a conditional distribution which is derived from an (ml+1)-dimensional power-normal distribution. The 100(α / 2)% and 100(1−α / 2)% points of the conditional distribution may then be used to form a prediction interval for the future value of the m-th variable. A method is introduced to estimate the above (ml+1)-dimensional power-normal distribution such that the coverage probability of the resulting prediction interval is nearer to the target value 1- α .
Resistance to anti-HER2 targeted therapy imposes a crucial limitation to the successful treatment of HER2 positive breast cancer. The expression of HER4 and its prognostic value is controversial in breast cancer. The role of HER4 in trastuzumab treatment and resistance in HER2-positive breast cancer has been recently studied. HER4 activation, cleavage and nuclear translocation have been demonstrated mediate trastuzumab resistance in HER2 positive breast cancer. In addition, nuclear HER4 is suggested could be a novel predictive and prognostic biomarker in HER2 positive breast cancer patients. Understanding the role of HER4 may offer useful insights to cancer treatment in HER2-positive breast cancer and other cancers.
Acute myeloid leukaemia (AML) is the most common subtype of acute leukaemias with a poor outcome. Msi2 protein is a newly discovered prognostic marker and it has been considered as a new target for therapy in AML. The study of Msi2
protein expression in AML cases has not been performed in Malaysia, to date. The main aim of the present study was to observe the expression of Msi2 protein in AML patients by immunohistochemistry (IHC) and to correlate its expression
with the well-established prognostic and clinical parameters in AML as well as the overall survival (OS). Sixty four bone marrow trephine biopsy sections were immunostained for Msi2 protein. The percentage of blasts with positive reaction
and the intensity of the cytoplasmic and nuclear staining were evaluated. The expression of Msi2 protein was found in 95.3% cases with Msi2 pattern varying between the cases. In 71.9% of cases, the blasts showed total cellular positivity and 23.4% cases showed only cytoplasmic positivity. Majority showed high expression of Msi2 for cytoplasmic staining. Interestingly, there was significant correlation between total cellular staining and the intermediate cytogenetic subgroup (P=0.04). In conclusion, the results showed that the majority of the patients had high expression of Msi2 but this did not correlate to OS. However, the Msi2 expression correlated to the cytogenetic findings. The results suggest future extensive research to be conducted in order to ascertain the exact role of Msi2 positive blast cells in AML in our population and their association with prognosis and outcome.
Keywords: AML, cytogenetics, immunohistochemistry, Msi2 protein
Malignant melanoma (MM) of parotid gland is a rare condition. This pathology is often a result of secondary metastasis from primary lesions in the head and neck skin. A MM arising de novo in parotid gland is very rare. This malignant tumour is more prevalent in adults rather than children and it tends to have several distinct features. Treatment options are limited especially for an advanced lesion. Despite best treatments this condition carries a poor prognosis. This case details our experience in treating a child with MM of parotid gland without other primary cutaneous lesions.
Despite the tremendous efforts for improving therapeutics of lung cancer patients, its prognosis remains disappointing. This can be largely attributed to the lack of comprehensive understanding of drug resistance leading to insufficient development of effective therapeutics in clinic. Based on the current progresses of lung cancer research, we classify drug resistance mechanisms into three different levels: molecular, cellular and pathological level. All these three levels have significantly contributed to the acquisition and evolution of drug resistance in clinic. Our understanding on drug resistance mechanisms has begun to change the way of clinical practice and improve patient prognosis. In this review, we focus on discussing the pathological changes linking to drug resistance as this has been largely overlooked in the past decades.
Numerous cancer studies have combined different datasets for the prognosis of patients. This study incorporated four networks for significant directed random walk (sDRW) to predict cancerous genes and risk pathways. The study investigated the feasibility of cancer prediction via different networks. In this study, multiple micro array data were analysed and used in the experiment. Six gene expression datasets were applied in four networks to study the effectiveness of the networks in sDRW in terms of cancer prediction. The experimental results showed that one of the proposed networks is outstanding compared to other networks. The network is then proposed to be implemented in sDRW as a walker network. This study provides a foundation for further studies and research on other networks. We hope these finding will improve the prognostic methods of cancer patients.