The case report describes the presentation of a 19-year old female with tuberous sclerosis who presented with progressive dyspnoea over 2 days. Chest radiograph revealed bilateral pneumothorax. Computed tomography showed features of pulmonary lymphangioleiomyomatosis and bilateral renal angiomyolipomas. The coexistence of both conditions may cause devastating morbidity and mortality.

Background: Community-acquired pneumonia (CAP) is the most important cause of hospitalisation in Malaysia and the 6th most important cause of mortality in patients aged 65 years and above. CAP is a lower respiratory tract infection that includes signs and symptoms like cough, fever, dyspnoea, the presence of new focal chest signs and new radiographic shadowing with no prior cause. To assist clinical judgement in deciding whether to admit the patient for in-ward treatment or otherwise, the severity of CAP is most commonly graded using the CURB-65 score as the components are more readily accessible in the Accidents and Emergency Department. We believe that cardiopulmonary diseases, immunosuppressive diseases like HIV infection or diabetes mellitus and other co-morbidities may affect the severity of CAP and are thus aspects of a patients’ history that should play a more significant role in influencing a clinician’s judgement of CAP severity. The general objective of the study is therefore to identify the relationship between co-morbidities and initial severity assessment of a patient admitted for community acquired pneumonia. The 3 specific objectives are i) to determine if presence of co-morbidities affects initial severity assessment in a patient admitted with CAP ii) To identify which co-morbidities affects initial severity assessment and iii) to determine whether having multiple co-morbidities increases initial severity assessment. Methodology: A retrospective study was carried out from the month of February 2013 to July 2013 at Hospital Tuanku Ja’afar, Seremban (HTJS). Patients admitted to the four Medical wards – 6A, 6B, 7A, and 7B – from July 2012 to December 2012 and have been diagnosed with CAP were chosen. A checklist was used as a survey instrument. Using statistical analysis, the severity of CAP in patients was compared in patients with different factors like gender, different co-morbidities and the number of co-morbidities. Results: A total of 63 patients in the control group had no co-morbidities and 54 patients were of low risk, 7 patients had moderate risk, and 2 patients had high risk CAP. Of the remaining 337 patients in the sample population, 124 patients had one co-morbidity, while 213 patients had multiple co-morbidities. Among those with a single co-morbidity, 100 patients had low risk, 19 patients had moderate risk, and 5 patients had high risk CAP. For the group with multiple co-morbidities, 135 patients had low risk, 58 patients had moderate risk, and 20 patients had high risk CAP. This study found that the presence and number of co-morbidities present in a patient affected the severity of CAP. Co-morbidities like diabetes mellitus, hypertension and asthma had significant correlation to the severity of CAP in patients. The gender of the patient had no significant correlation to the severity of CAP. Conclusion: The presence and number of co-morbidities present in a patient increases the severity of CAP. Hypertension, diabetes mellitus, and asthma are comorbidities that are prerequisites for increased caution and alert when judging the severity of CAP in patients. Comparison of patients with single and multiple comorbidities showed that patients in the latter group present with higher severity scores (p-value = 0.004).
Morbidity

BACKGROUNDMuch is known about the cytogenetic lesions that characterize multiple myeloma (MM) patients from the USA, Europe, and East Asia. However, little has been published about the disease among Southeast Asians. The aim of this study was to determine the chromosomal abnormalities of MM patients in our Singapore population.

METHODSForty-five newly-diagnosed, morphologically confirmed patients comprising 18 males and 27 females, aged 46 - 84 years (median 65 years) were investigated by karyotyping and fluorescence in situ hybridization (FISH). FISH employing standard panel probes and 1p36/1q21 and 6q21/15q22 probes was performed on diagnostic bone marrow samples.

RESULTSThirty-four cases (75.6%) had karyotypic abnormalities. Including FISH, a total detection rate of 91.1% was attained. Numerical and complex structural aberrations were common to both hyperdiploid and non-hyperdiploid patients. Numerical gains of several recurring chromosomes were frequent among hyperdiploid patients while structural rearrangements of several chromosomes including 8q24.1 and 14q32 characterized non-hyperdiploid patients. With FISH, immunoglobulin heavy chain (IGH) gene rearrangements, especially fibroblast growth factor receptor 3 (FGFR3)/IGH and RB1 deletion/monosomy 13 were the most common abnormalities (43.4%). Amplification 1q21 was 10 times more frequent (42.5%) than del(1p36) and del(6q21).

CONCLUSIONSWe have successfully reported the comprehensive cytogenetic profiling of a cohort of newly-diagnosed myeloma patients in our population. This study indicates that the genetic and cytogenetic abnormalities, and their frequencies, in our study group are generally similar to other populations.

Aged ; Aged, 80 and over ; Chromosome Aberrations ; Cytogenetics ; Female ; Humans ; Immunoglobulin Heavy Chains ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Middle Aged ; Monosomy ; genetics ; Multiple Myeloma ; genetics ; pathology ; Receptor, Fibroblast Growth Factor, Type 3 ; genetics ; Retinoblastoma Protein ; genetics ; Singapore