INTRODUCTIONThere is increased awareness of paediatric palliative care in Malaysia, but no local published data on home care services. We aimed to describe the paediatric experience at Hospis Malaysia, a community-based palliative care provider in Malaysia.

METHODSWe conducted a retrospective case note review of patients aged up to 21 years who were referred to Hospis Malaysia from 2009 to 2013.

RESULTSA total of 137 patients (92 male, 45 female) with a median age of 140 (3-250) months were included in this study. The majority (71.5%) had malignancies. At referral, 62 patients were still in hospital and 17 died prior to discharge. A total of 108 patients received home visits. At the first home visit, 89.8% of patients had at least one physical symptom. Pain was the most common (52.5%) symptom. Patients had various supportive devices: 39 were on feeding tubes, ten had tracheostomies, five were on bilevel positive airway pressure and ten had urinary catheters. 66 families discussed the preferred location of care at end-of-life. Among those who died, 78.9% died at home, as they preferred (p < 0.001). Regression analysis showed no statistically significant association between a home death and age, diagnosis and number of home visits. Bereavement follow-up occurred for 93.3% of families.

CONCLUSIONCommunity care referrals tend to occur late, with 25.5% of patients dying within two weeks of referral. At referral, patients often had untreated physical symptoms. The majority of families preferred and had a home death.

Cause of Death ; trends ; Child, Preschool ; Female ; Follow-Up Studies ; Home Care Services ; organization & administration ; Humans ; Infant ; Malaysia ; epidemiology ; Male ; Neoplasms ; mortality ; therapy ; Palliative Care ; organization & administration ; Retrospective Studies ; Survival Rate ; trends

PURPOSE: To compare the usefulness of contrast-enhanced voiding ultrasonography(US) with that of radiographic voiding cystourethrography(VCUG) for the diagnosis of vesicoureteral reflux(VUR) in children. MATERIALS AND METHODS: Ninety-five kidney-ureter units of 47 patients referred for investigation of VUR underwent contrast-enhanced voiding US followed by radiographic VCUG. After baseline US examination of the urinary tract, residual urine in the bladder was drained through an inserted Foley catheter and the bladder was gravity filled at a height of 1 m with normal saline. A galactose-based, microbubble-containing echo-enhancing agent (Levovist; Schering, Berlin, Germany) was then administered. The amount of this was approximately 10% of bladder capacity, and VUR was diagnosed when microbubbles appeared in the ureter or pelvo-calyceal system. Using radiographic VCUG as a reference point, the accuracy with which contrast-enhanced voiding US detected VUR was calculated. RESULTS: In 87 of 95 kidney-ureter units (91.6%), the two methods showed similar results regarding the diagnosis or exclusion of VUR, which was detected by both in 12 units, but by neither in 75. VUR was shown to occur in a total of 20 units, but in eight of these by one method only. In two units, VUR detected by contrast-enhanced voiding US was not demonstrated by radiographic VCUG; in six units, the reverse was true. In the detection of VUR, contrast-enhanced voiding US showed a sensitivity of 66.7%, a specificity of 97.4%, a positive predictive value of 85.7%, and a negative predictive value of 92.6%. CONCLUSION: Contrast-enhanced voiding US is highly specific and has high positive and negative predictive values; its sensitivity, however, is not sufficiently high. The modality appears to be a useful diagnostic tool for the detection of VUR without exposure to ionizing radiation, though to be certain of its value, more experience of its use is first required.
Berlin ; Catheters ; Child* ; Diagnosis ; Gravitation ; Humans ; Microbubbles ; Radiation, Ionizing ; Sensitivity and Specificity ; Ultrasonography* ; Ureter ; Urinary Bladder ; Urinary Tract ; Vesico-Ureteral Reflux*

OBJECTIVE: To determine whether hypertonic saline (HS, 36% NaCl) injection prior to or during radiofrequency ablation (RFA) can increase the extent of thermally mediated coagulation in in-vivo rabbit liver tissue, and also to establish the ideal injection time in relation to RFA in order to maximize its effect on the extent of radiofrequency (RF) -induced coagulation. MATERIALS AND METHODS: In 26 rabbits, 43 RFA lesions were produced using a 17-gauge internally cooled electrode with a 1-cm active tip under ultrasound (US) guidance. Rabbits were assigned to one of three groups: Group A: RFA alone (n=8) ; Group B: RFA after the instillation of 1 mL HS (n=8) ; Group C: RFA after and during the instillation of 0.5 mL HS (n=10). RF energy (30 W) was applied for 3 minutes, and changes occurring in tissue impedance, current, power output, and the temperature of the electrode tip were automatically measured. After RFA, contrast-enhanced spiral CT was performed, and in each group the maximum diameters of the thermal lesions in gross specimens were compared. Technical success and the complications arising were evaluated by CT and on the basis of autopsy findings. RESULTS: All procedures were technically successful. There were six procedure-related complications (6/26; 23%), including five localized perihepatic hematomas and one thermal injury to the stomach. With instillation of HS in group B rabbits, markedly decreased tissue impedance (73 omega+/-5) and increased current (704 mA+/-41) were noted, compared to RF ablation without saline infusion (116.3 omega+/-13, 308 mA+/-80). With instillation of the solution before RFA (group B), coagulation necrosis was greater (14.9 mm+/- 3.8) than in rabbits not injected (group A: 11.5 mm+/-2.4; Group A vs. B: p < .05) and in those injected before and during RFA (group C: 12.5 mm+/-3.1; Group B vs. C: p > .05). CONCLUSION: RFA using HS instillation can increase the volume of RFAinduced necrosis of the liver with a single application, thereby simplifying and accelerating the treatment of larger lesions. In addition, HS instillation before RFA more effectively achieves coagulation necrosis than HS instillation before and during RFA.

Autosomal recessive polycystic kidney disease is among the most common inherited ciliopathies and is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. Despite its great phenotypic variability, this condition is usually diagnosed during the neonatal and early infantile periods. We report a 37+3 -gestational-week neonate presenting with fatal autosomal recessive polycystic kidney disease who died at 28 hours of life from severe respiratory failure. The familial history is significant because a previous sibling died in utero at 24+2 weeks of gestational age and was diagnosed with polycystic kidney disease based on prenatal ultrasonography and autopsy. Our patient's autopsy revealed findings compatible with polycystic kidney disease. In addition, a PKHD1 gene study of peripheral blood leukocytes identified the compound heterozygote mutation c.274C>T(p.Arg92Trp), as well as the novel heterozygous nonsense mutation c.2770C>T(p.Gln924*).
Autopsy ; Codon, Nonsense ; Gestational Age ; Heterozygote ; Humans ; Infant, Newborn* ; Leukocytes ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Recessive* ; Respiratory Insufficiency ; Siblings ; Ultrasonography, Prenatal

Ancient bones have undergone natural decomposition and have been exposed to external environment for long period. Ancient DNA from old bone is usually fragmented. In addition, various kinds of inhibitors are co-extracted. All these may inhibit proper sequencing reaction. Cloning is regarded as the standard method when sequencing aDNA. When cloning, each clone from the same sample may not be of same sequence, and to exact consensus sequence may be difficult. Here we present our experience on 1200 year old bone from Russia, Primorsky Kray area. We have tried to sequence for HV I, II region of mtDNA using modified mini-primer set, which consisted of 7 set to cover the HV I, II. We cloned the PCR product and sequenced all the clones. Amplification efficiency and subsequent success rates were different for each mini primer set. Loci of variation that differ from consensus sequences were rather frequent, and the pattern were variable depending on sample. Except major polymorphic sites that are important when haplogroup designation, 16129 was the most frequent site that was discarded when extracting haplogroup designation.
Clone Cells ; Cloning, Organism ; Consensus Sequence ; DNA ; DNA, Mitochondrial ; Polymerase Chain Reaction ; Russia

OBJECTIVE: To compare phase-inversion sonography during the liver-specific phase of contrast enhancement using a microbubble contrast agent with conventional B-mode sonography for the detection of VX2 liver tumors. MATERIALS AND METHODS: Twenty-three rabbits, 18 of which had VX2 liver tumor implants, received a bolus injection of 0.6 g of Levovist (200 mg/ml). During the liver-specific phase of this agent, they were evaluated using both conventional sonography and contrast-enhanced phase-inversion harmonic imaging (CE-PIHI). Following sacrifice of the animals, pathologic analysis was performed and the reference standard thus obtained. The conspicuity, size and number of the tumors before and after contrast administration, as determined by a sonographer, were compared between the two modes and with the pathologic findings. RESULTS: CE-PIHI demonstrated marked hepatic parenchymal enhancement in all rabbits. For VX2 tumors detected at both conventional US and CE- PIHI, conspicuity was improved by contrast-enhanced PIHI. On examination of gross specimens, 52 VX2 tumors were identified. Conventional US correctly detected 18 of the 52 (34.6%), while PIHI detected 35 (67.3%) (p < 0.05). In particular, conventional US detected only three (8.3%) of the 36 tumors less than 10 mm in diameter, but CE-PIHI detected 19 such tumors (52.8%) (p < 0.05). CONCLUSION: Compared to conventional sonography, PIHI performed during the liver-specific phase after intravenous injection of Levovist is markedly better at detecting VX2 liver tumors.

Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Multiparous mother at 38 weeks' gestation delivered a 3,272 g baby boy with characteristic phenotypes including bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia. He underwent a tracheostomy at the age of three months for severe laryngomalacia after a number of repeated hospitalizations due to respiratory problems and died at the age of four months from progressive respiratory failure. He was diagnosed as having CD based on a novel frameshift mutation (p.Gln458ArgfsX12) in the SOX9 gene, the mutation which has not yet been reported in Korea.
Campomelic Dysplasia/*diagnosis/genetics/radiography ; Disorders of Sex Development/genetics ; Frameshift Mutation ; Humans ; Infant ; Male ; Respiratory Insufficiency/complications ; SOX9 Transcription Factor/*genetics ; Sequence Analysis, DNA

Introduction: Awareness for paediatric palliative care has resulted in the impetus for paediatrician-led palliative care services across Malaysia. However, there is paucity of local data on patients receiving hospital-based paediatric palliative care. We aim to review the clinical spectrum of patients referred to these services. Methods: An observational study of children aged between 0-18 years receiving palliative care at 13 hospitals between 1st January and 31st December 2014 was carried out. Results: There were 315 patients analysed, 90 (28.6%) and 46 (14.6%) were neonates and adolescents respectively. The main ICD-10 diagnostic categories for all patients were identified to be ‘Congenital malformations, deformations and chromosomal abnormalities’ 117 (37.1%), ‘Diseases of nervous system’ 76 (24.1%) and ‘Neoplasms’ 60 (19.0%). At referral 156 (50%) patients had holistic needs assessments. Patients with ‘Diseases of nervous system’ were assessed to have significantly more physical needs than the other two diagnostic categories. Majority of patients who knew of their diagnosis and prognosis were those with malignancy. Over a fifth of referrals were at their terminal admission. Of 144 who died, 111 (77.1%) had advanced care plans. There was bereavement follow-up in 98 (68.1%) patients. Conclusion: Patients referred for palliative care have varied diagnoses and needs. To ensure all paediatricians are competent to deliver quality care to all children, further education and training initiatives is imperative.
Palliative Care