METHODS: One hundred two study participants were identified through a network of collaborating clinicians and the Amy and Friends CS support groups. Families with a diagnosis of CS could also self-recruit. Comprehensive clinical information for analysis was obtained directly from families and their clinicians.
RESULTS AND CONCLUSION: We present the most complete evaluation of Cockayne syndrome to date, including detailed information on the prevalence and onset of clinical features, achievement of neurodevelopmental milestones, and patient management. We confirm that the most valuable prognostic factor in CS is the presence of early cataracts. Using this evidence, we have created simple guidelines for the care of individuals with CS. We aim to assist clinicians in the recognition, diagnosis, and management of this condition and to enable families to understand what problems they may encounter as CS progresses.Genet Med 18 5, 483-493.
METHODS: This was a data review involving children aged
METHODS: One hundred osteosarcoma cases from 2003 to 2018 in Hospital Universiti Sains Malaysia were retrieved. The tissue samples were stained for RANKL, and the association with the clinicopathological characteristics was evaluated. Staining was interpreted in a semiquantitative scoring system and classified into negative and positive expressions. Results: Eighty-two cases had a positive expression of RANKL in which 56 and 26 patients were classified as low expression and high expression, respectively. The positive expression of RANKL did not show a significant association with clinicopathological characteristics. However, Kaplan Meier survival analysis showed a significant improvement in the disease-free survival patients who underwent limb salvage surgery (LSS) than amputated patients (p-value 0.002), whereas poorer survival was observed among conventional osteosarcomas compared to non-conventional osteosarcoma (p-value 0.01).
CONCLUSION: Limb salvage surgery had proven to improve osteosarcoma patients' survival compared to amputation, which could improve overall quality of life in osteosarcoma patients. However, our data did not show a significant association between positive RANKL immunohistochemistry with any of the clinicopathological characteristics and patients' final survival. Further studies may be acquired to understand the suitability of using RANKL immunohistochemistry as prognostication in the management of osteosarcoma patients.
METHODS: A cross sectional study on nationally representative sample deaths that occurred in Malaysia during 2013 was used. A VA questionnaire suitable for local use was developed. Trained field interviewers visited the family members of the deceased at their homes and conducted face to face interviews with the next of kin. Completed questionnaires were reviewed by trained physicians who assigned multiple and underlying causes. Reference diagnoses for validation were obtained from review of medical records (MR) available for a sample of the overall study deaths.
RESULTS: Corresponding MR diagnosis with matched sample of the VA diagnosis were available in 2172 cases for the validation study. Sensitivity scores were good (>75%) for transport accidents and certain cancers. Moderate sensitivity (50% - 75%) was obtained for ischaemic heart disease (64%) and cerebrovascular disease (72%). The validation sample for deaths due to major causes such as ischaemic heart disease, pneumonia, breast cancer and transport accidents show low cause-specific mortality fraction (CSMF) changes. The scores obtained for the top 10 leading site-specific cancers ranged from average to good.
CONCLUSION: We can conclude that VA is suitable for implementation for deaths outside the health facilities in Malaysia. This would reduce ill-defined mortality causes in vital registration data, and yield more accurate national mortality statistics.
DESIGN: Prospective observational study.
SETTING: PICU in a tertiary care pediatric hospital.
PATIENTS: All English-literate parents whose child was admitted to our PICU between February 2014 and February 2015 were eligible after informed consent was obtained. Parents included in this study in previous admission(s) were excluded.
INTERVENTION: Nil.
MEASUREMENTS AND MAIN RESULTS: We adapted Empowerment of Parent in the Intensive Care Questionnaire, a validated questionnaire survey specific for measuring parental satisfaction in PICUs. This adapted survey consisted of 31 questions (based on a scale of 1-6) examining five domains as follows: information giving, care and cure, parental participation, organization, and professional attitude. Reliability of Empowerment of Parent in the Intensive Care Questionnaire in our population was analyzed using Cronbach's alpha. We used ordinal logistic regression, controlling for socioeconomic status and educational level, to examine differences in parental perceptions of various ethnicities. We obtained a total of 206 responses (36.5%) from 543 admissions. There were 116 (56%) emergency and 90 (44%) elective admissions. The proportion of respondents were Chinese (126 [61%]), Malay (32 [16%]), Indian (23 [11%]), and "Others" (25 [12%]). Cronbach's alpha for domains of information giving (α = 0.80), care and cure (α = 0.93), parental participation (α = 0.84), organization (α = 0.79), and professional attitude (α = 0.88) were good. In all five domains, our median PICU scores were 6 (interquartile range, 5-6). Compared to other ethnic groups, Malay parents did perceive that domains of "care and cure," "parental participation," and "professional attitude" were less satisfactory.
CONCLUSIONS: Significant differences were found in satisfaction ratings between parents of different ethnicities. Further studies are needed to explore and determine reasons for these differences.
METHOD: We completed a prospective, double-blinded, randomized placebo-control trial of azithromycin among pre-school children (12 to 60 months of age) presenting to the emergency department with wheeze. Patients were randomized to receive either five days of azithromycin or placebo. Primary outcome was time to resolution of respiratory symptoms after treatment initiation. Secondary outcomes included the number of days children used a Short-Acting Beta-Agonists during the 21 day follow-up and time to disease exacerbation during the following six months (unscheduled health care visit or treatment with an oral corticosteroid for acute respiratory symptoms).
RESULTS: Of the 300 wheezing children recruited, 222 and 169 were analyzed for the primary and secondary outcomes, respectively. The treatment groups had similar demographics and clinical parameters at baseline. Median time to resolution of respiratory symptoms was four days for both treatment arms (interquartile range (IQR) 3,6; p = 0.28). Median number of days of Short-Acting Beta-Agonist use among those who received azithromycin was four and a half days (IQR 2, 7) and five days (IQR 2, 9; p = 0.22) among those who received placebo. Participants who received azithromycin had a 0.91 hazard ratio for time to six-month exacerbation compared to placebo (95% CI 0.61, 1.36, p = 0.65). A pre-determined subgroup analysis showed no differences in outcomes for children with their first or repeat episode of wheezing. There was no significant difference in the proportion of participants experiencing an adverse event.
CONCLUSION: Azithromycin neither reduced duration of respiratory symptoms nor time to respiratory exacerbation in the following six months after treatment among wheezing preschool children presenting to an emergency department. There was no significant effect among children with either first-time or prior wheezing.
STUDY DESIGN: A non-randomized prospectively collected patients over a three year period, with complaints of nose congestion, rhinorrhea and/or nasal discharge.
RESULTS: There were 435 patients enrolled, 213 children and 222 adults. The children group had a high prevalence of allergen specific IgE to Dermatophagoides pteryonysinus (70%), Dermatophagoides farina (69%), and Blomia tropicalis (55%); followed by dogs (32%), cats (19%) and cockroaches (19%). In the children food allergy category, the top three allergens were egg white (54%), milk (31%) and soya bean (13%). The adult group had results of Dermatophagoides pteryonysinus (71%), Dermatophagoides farina (72%), and Blomia tropicalis (59%); the adult food allergy category, the top 3 allergens were egg white (13%), milk (6%) and soya bean (5%). There was a statistically significant difference in the child and adult group for Dust, D. pteryonysinus, D. farina, B.tropicalis, egg white, wheat, gluten and soya bean. In the age specific child groups, there was an increased in egg food allergy levels, with a peak at the age of five-nine years old and decreasing thereafter (p=0.04). In the children group, the mean Total Nasal Symptom Score (TNSS) was 10.3 (range of 7 to 13); the adult group was similar, with a mean TNSS of 9.8 (range 5 to 12).
CONCLUSION: The prevalence of food allergy in paediatric patients with allergic rhinitis is fairly high and should be considered when treating these children.
DESIGN AND SETTING: We performed a retrospective review of medical records among emergency departments (EDs) of eight PATOS centres, from September 2014 - August 2015.
PARTICIPANTS: We included children <16 years old who presented within 24 hours of head injury and were admitted for observation or required a computed tomography (CT) of the brain from the ED. We excluded children with known coagulopathies, neurological co-morbidities or prior neurosurgery. We reviewed the mechanism, intent, location and object involved in each injury, and the patients' physical findings on presentation.
OUTCOMES: Primary outcomes were death, endotracheal intubation or neurosurgical intervention. Secondary outcomes included hospital and ED length of stay.
RESULTS: 1438 children were analysed. 953 children (66.3%) were male and the median age was 5.0 years (IQR 1.0-10.0). Falls predominated especially among children younger than 2 years (82.9%), while road traffic injuries were more likely to occur among children 2 years and above compared with younger children (25.8% vs 11.1%). Centres from upper and lower middle-income countries were more likely to receive head injured children from road traffic collisions compared with those from high-income countries (51.4% and 40.9%, vs 10.9%, p<0.0001) and attended to a greater proportion of children with severe outcomes (58.2% and 28.4%, vs 3.6%, p<0.0001). After adjusting for age, gender, intent of injury and gross national income, traffic injuries (adjusted OR 2.183, 95% CI 1.448 to 3.293) were associated with severe outcomes, as compared with falls.
CONCLUSIONS: Among children with head injuries, traffic injuries are independently associated with death, endotracheal intubation and neurosurgery. This collaboration among Asian centres holds potential for future prospective childhood injury surveillance.