NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy.

We reported a family with two male siblings affected with infantile dilated cardiomyopathy (DCM). Extensive evaluation failed to identify the underlying cause for the DCM. Next generation sequencing (NGS) with targeted enrichment identified a hemizygous variant c.718G>C (p.Gly240Arg) in the TAZ gene. This variant has been reported in three other families with X linked infantile DCM and is therefore likely pathogenic. NGS allows efficient screening of a large number of uncommon genes in complex disorders like DCM, in which there is substantial genetic and phenotypic heterogeneity. The identification of TAZ mutation has major impact on their medical care as the surveillance needs to be expanded to cover for the Barth syndrome, a severe metabolic phenotype also caused by TAZ mutation, in addition to DCM.

Intra-abdominal Rhizopus microsporus infection successfully treated by combined aggressive surgical, antifungal, and iron chelating therapy.

SUMMARY: Zygomycetes are widely distributed in the environment as inhabitants of soil and decaying matter. On rare occasions, these organisms can cause invasive infections in immunocompromised hosts. As zygomycetes are resistant to most conventional antifungal agents, its infection is often fatal. We report 2 cases of unusual intra-abdominal Rhizopus microsporus infection in children with acute leukemia as a result of an unprecedented outbreak due to oral intake of contaminated allopurinol tablets and ready-to-eat food items. Among the 2 patients, one of them survived after aggressive combined surgical, antifungal (AmBisome, Caspofungin, and Posaconazole) and iron chelation therapy.

Chylothorax in children after congenital heart surgery.

BACKGROUND: A definitive management strategy for postoperative chylothorax remains elusive. We reviewed our experience in the management of chylothorax in children after congenital heart surgery. METHODS: The case records of 51 patients, with a median age of 11 months (range, 4 days to 19.6 years), diagnosed to have postoperative chylothorax between 1981 and 2004 were reviewed. The responses of patients to nutritional modifications, octreotide therapy, and surgical interventions were noted. RESULTS: The prevalence of postoperative chylothorax, which developed at a median of 9 days after operation (range, 0 to 24 days), was 0.85% (51 of 5,995). Four patients died, and among the 47 survivors the median duration and total volume of chylous drainage was 15 days (range, 1 to 89 days) and 156 mL/kg (range, 3 to 6,476), respectively. The duration of chyle output was significantly longer after the Fontan-type procedures (p = 0.0006). Twenty-one patients were diagnosed between 1981 and 1999 and managed by nutritional modifications, 2 of whom required further surgical interventions. Of the 30 patients diagnosed between 2000 and 2004, 12 responded to nutritional modifications alone while 18 were started on octreotide therapy at a median of 19.5 days (range, 7 to 35 days) after the onset of chylothorax. Fifteen of the 18 (83%) patients responded to octreotide therapy at 15.3 +/- 5.5 days after starting octreotide, while 3 required further surgical interventions. None developed side effects from octreotide therapy. CONCLUSIONS: Octreotide has been incorporated into the management algorithm of postoperative chylothorax and appears to be a useful adjunctive therapy.

Lupus nephritis in Chinese children--a territory-wide cohort study in Hong Kong.

We report a multicenter study of Chinese children in Hong Kong with systemic lupus erythematosus (SLE) nephritis. Children were included if: they fulfilled the ACR criteria, had significant proteinuria or casturia, were Chinese and younger than 19 years and had been diagnosed with SLE between January 1990 and December 2003. Investigators in each center retrieved data on clinical features, biopsy reports, treatment and outcome of these patients. There were 128 patients (eight boys, 120 girls; mean age: 11.9+/-2.8 years). About 50% presented with multisystem illness and 40% with nephritic/nephrotic symptoms. Negative anti-dsDNA antibodies were found in 6% of the patients. Renal biopsy revealed WHO Class II, III, IV and V nephritis in 13 (10%), 22 (17%), 69 (54%) and 13 (10%) patients, respectively. The clinical severity of the nephritis did not accurately predict renal biopsy findings. The follow-up period ranged from 1 to 16.5 years (mean+/-SD: 5.76+/-3.61 years). During the study five patients died (two from lupus flare, one from cardiomyopathy, two from infections). Four patients had endstage renal failure (ESRF) (one died during a lupus flare). All deaths and end-stage renal failure occurred in the Class IV nephritis group. Chronic organ damage was infrequent in the survivors. The actuarial patient survival rates at 5, 10 and 15 years of age were 95.3, 91.8, and 91.8%, respectively. For Class IV nephritis patients, the survival rates without ESRF at 5, 10, and 15 years were 91.5, 82.3 and 76%, respectively. The survival and chronic morbidity rates of the Chinese SLE children in the present study are comparable to those of other published studies.