Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.
Cystic Fibrosis ; Deafness ; Duodenum ; Female ; Fistula ; Frameshift Mutation ; Hirschsprung Disease ; Humans ; Ileus ; Intestinal Pseudo-Obstruction ; Jejunum ; Meconium ; Necrosis ; Parents ; Waardenburg Syndrome

OBJECTIVE: To discuss the various factors contributory to maritime disaster preparedness in the Philippines, in the context of the sinking of the MV Dona Paz and formulate recommendations to address these factors.

METHOD: Review of the state of maritime preparedness in the pre-disaster setting and the post-disaster response following the sinking of the MV Dona Paz by the government and responsible agencies. A scrutiny of the state of preparedness of concerned agencies and subsequent response to the disaster was conducted with the objective of formulating recommendations which may lead to prevention and mitigate loss of lives.

RESULTS: Multiple factors accounted for the occurrence of this tragedy. These factors include an inherent risk due to the geography of shipping industry and its labor force. Economic conditions prevent both the industry and government agencies from upgrading vessels and communications equipment. Lack of enforcement of existing regulations allows vessels to sail overloaded and at times manned by less-than-qualified crew. Delayed response and deficient post-disaster medical response may have led to a disproportionately high mortality.

CONCLUSIONS: The systems inadequacies of the Philippine maritime disaster response mechanism are highlighted by the Dona Paz tragedy. Many of the factors contributing to the disproportionately high incidence of maritime disasters in the Philippines and the resulting loss of limb may be preventable. Recommendations on regulation and enforcement, disaster preparedness, search and rescue, and medical response are discussed.

Incidence ; Philippines ; Glucosamine ; Disasters ; Government Agencies ; Government ; Men ; Geography ; Employment

OBJECTIVE: To discuss the various factors contributory to the fatalities that resulted from the sinking of the MV Dona Paz.

METHODS: Review of the pre-disaster, disaster and post-disaster events surrounding the sinking of the MV Dona Paz, as well as the subsequent response by the government and responsible agencies to the disaster.

RESULTS: The Sinking of the MV Dona Paz, along with the loss of more than 4,000 precious lives, is but a footnote in the long litany of misfortunes plaguing the Philippine maritime industry. A closer look into the events and circumstances leading to this tragedy demonstrates a confluence of equipment and system inadequacy on one hand and human error and lack of preparedness on the other.

CONCLUSION: Multiple factors account for the occurence of this tragedy, along with other maritime disaster incidents dotting the long maritime history of the Philippines. A cursory analysis of these factors may lead to recommendations that can prevent similar occurrences in the future and mitigate damage to property and loss of life. The policy implications of these findings are discussed in a subsequent paper.

Philippines ; Glucosamine ; Disasters ; Government ; Policy ; Organizations