Community awareness and perceptions of health sector preparedness and response to Cyclone Nargis.

Community awareness, preparedness and response to public health emergencies are essential for a successful response to public health emergencies. This study was carried out to determine community awareness and perceptions regarding health sector preparedness and response to Cyclone Nargis in Myanmar. Six focus group discussions were carried out in 3 villages severely affected by Cyclone Nargis. Thematic content analysis was carried out to determine community perceptions. Focus group participants, consisting of community members, community leaders and government personnel, were aware of the cyclone, but were unaware of its intensity and where it would make landfall. There was inadequate knowledge on how to prepare for a cyclone. There was some training on cyclone preparation but coverage was not wide enough. Participants received service and relief from health sector; they had a positive attitude toward health services provided to them. However, 5 out of 6 focus groups stated most villagers were not interested in health education. Only a few participants had some knowledge on how to prepare for a cyclone. Based on these results, there are evident weaknesses on how to prepare for cyclones. Community preparedness is essential to prevent disasters with cyclones, such as with Cyclone Nargis.

Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate.

Non-syndromic cleft lip with or without cleft palate (CL/P) has a complex etiology with several genetic and environmental factors playing a role. The poliovirus receptor related-1 gene (PVRL1) has been shown to underlie a syndromic form of CL/P and, in some populations, contribute to non-syndromic CL/P. To investigate whether mutations in PVRL1 play a part in the formation of non-syndromic CL/P in the Thai population, 100CL/P patients were analyzed for mutations in PVRL1 by polymerase chain reaction amplification and direct sequencing of all the coding regions of its alpha isoform. Of this series of patients, one was found to be heterozygous for 1183G>A in exon 6, expected to result in the substitution of a valine by a methionine at position 395 (V395M). This mutation was not found in 200 unaffected Thai control individuals. The valine position is conserved across all known mammalian PVRL1 sequences. In conclusion, a novel non-synonymous PVRL1 mutation was found in a Thai patient with non-syndromic CL/P, suggesting a possible etiologic role of PVRL1 in non-syndromic CL/P across different populations.

TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.

Mutations in the TBX22 gene underlie an X-linked malformation syndrome with cleft palate (CP) and ankyloglossia. Its mutations also result in non-syndromic CP in some populations. To investigate whether mutations in TBX22 play a part in the formation of non-syndromic CP in the Thai population, we performed mutation analysis covering all the coding regions of the TBX22 gene in 53 unrelated Thai patients with non-syndromic CP. We identified four potentially pathogenic mutations, 359G-->A (R120Q), 452G-->T (R151L), 1166C-->A (P389Q), and 1252delG in four different patients. All mutations were not detected in at least 112 unaffected ethnic-matched control chromosomes and had never been previously reported. R120Q and R151L, found in two sporadic cases, were located in the DNA binding T-box domain. P389Q and 1252delG, found in two familial cases, were at the carboxy-terminal region, which has never been described. Our study indicates that TBX22 mutations are responsible for a significant proportion of Thai non-syndromic CP cases confirming its importance as a frequent cause of non-syndromic CP across different populations.

A mutation of the p63 gene in non-syndromic cleft lip.

Mutations in the p63 gene (TP63) underlie several monogenic malformation syndromes manifesting cleft lip with or without cleft palate (CL/P). We investigated whether p63 mutations also result in non-syndromic CL/P. Specifically, we performed mutation analysis of the 16 exons of the p63 gene for 100 Thai patients with non-syndromic CL/P. In total, 21 variant sites were identified. All were single nucleotide changes, with six in coding regions, including three novel non-synonymous changes: S90L, R313G, and D564H. The R313G was concluded to be pathogenic on the basis of its amino acid change, evolutionary conservation, its occurrence in a functionally important domain, its predicted damaging function, its de novo occurrence, and its absence in 500 control individuals. Our data strongly suggest, for the first time, a causative role of a heterozygous mutation in the p63 gene in non-syndromic CL/P, highlighting the wide phenotypic spectrum of p63 gene mutations.

Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population.

BACKGROUND: Previous data have shown an association between DNA sequence variants in the IRF6 gene and an increased risk of non-syndromic cleft lip with or without cleft palate (CL/P) in some populations. OBJECTIVE: To investigate Thai CL/P patients and relative for a 820G-->A polymorphism. SUBJECTS: 192 CL/P Thai patients, 177 of their mothers, 73 of their fathers, and 278 controls. RESULTS: There were significant differences in the frequency distributions of both genotypes (p = 0.02) and alleles (p = 0.04) among probands as compared with the control group. The odds ratio calculated for the patients having the GG genotype compared with the other two genotypes (GA and AA) was 1.67 (95% confidence interval, 1.13 to 2.47). This pattern is consistent with a recessive effect of the G allele. No association between any of the parents' genotypes and CL/P was found. The IRF6 820G-->A was responsible for 16.7% of the genetic contribution to CL/P. CONCLUSIONS: The findings confirm that IRF6 820G-->A is associated with CL/P.

De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome.

Rapp-Hodgkin syndrome (RHS) is an autosomal dominant disorder characterized by ectodermal dysplasia and cleft lip/cleft palate. Very recently, mutations in p63 have been identified as a cause of RHS; to date five such mutations have been identified. We describe a Thai girl with RHS. She had short stature, ectodermal dysplasia, epiphora, cleft lip, cleft palate, and normal development. Mutation analysis for the entire coding region of p63 identified a novel and de novo mutation, 1622C--> A (S541Y), in the SAM domain, predicting an abnormal alpha tail of the p63alpha protein isotypes. This observation supports that majority of patients with RHS are caused by mutations affecting the tail of p63alpha, a region that also contains most of the pathogenic mutations in ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome.

Use of guanidinated dietary protein to measure losses of endogenous amino acids in poultry.

Guanidinated proteins when fed to non-ruminants provide values for both endogenous amino acid losses and amino acid digestibilities, provided that the homoarginine residues in the treated protein are randomly distributed. Earlier studies have established that guanidination has only minor effects on the structure of the protein and, in particular, on its susceptibility to proteolysis. Furthermore, we have confirmed that homoarginine behaves as a typical amino acid in the small intestine. Lysine residues in casein and soya-bean protein, and in the proteins of cotton-seed meal, meat meal, soya-bean meal, maize, sorghum and wheat were converted to homoarginine by guanidination, the extent of conversion ranging from 37-68%. Sequential proteolysis in vitro of these guanidinated materials showed that the ratios of homoarginine to other amino acids remained unchanged for casein and soya-bean protein, indicating random distribution of homoarginine residues, but not for all the amino acids in meals and cereals. The use of guanidinated casein as the sole protein source in diets fed to broiler chickens allowed measurement of endogenous losses of amino acids under normal feeding conditions and calculation of true digestibilities of dietary amino acids at the ileum. Endogenous amino acid losses measured by the use of guanidinated casein (15.3 g/kg dry matter (DM) intake) were significantly higher (P < 0.001) than values obtained by feeding a N-free diet (5.4 g/kg DM intake), or by regression analysis to zero N intake (7.2 g/kg DM intake).

Measurement of endogenous amino acid losses in poultry.

1. Ileal endogenous amino acid losses were determined in broiler chickens and in cannulated cross-bred layer strain cockerels using either a nitrogen-free diet, regression analysis or a 48 h fast. 2. Endogenous amino acid flows to the ileum in fasted cockerels were significantly lower than those obtained both by feeding the nitrogen-free diet, and from regression analysis in either broilers or cockerels. Regression analysis gave the highest flows. 3. The apparent digestibility coefficients of amino acids in a diet containing 200 g/kg crude protein were lower in broilers (0.84) than in cockerels (0.88). When corrected, by regression analysis, for the contribution of endogenous amino acids, the true digestibility coefficients became 0.90 and 0.92 respectively.

Trypanosoma evansi infection in buffaloes in North-East Thailand. II. Abortions.

By exclusion of other possible aetiological agents, strong circumstantial evidence is presented of Trypanosoma evansi infection being the cause of late gestation abortion and stillbirth in buffaloes.