Challenges in the Management of Mucopolysaccharidosis Type II (Hunter's Syndrome) in a Developing Country: a Case Report

Background

Mucopolysaccharidosis type II (Hunter''s syndrome) is an X-linked chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase with patients rarely living till adulthood. Failure to identify patients early could contribute to an increased morbidity as identified in this case report.

Case Details

An eight year old patient with Hunter''s syndrome identified five years after disease onset with severe cardiovascular complications exemplifies the challenges faced in resource-limited countries towards making diagnosis and treatment of rare conditions. Elevated urinary glycosaminoglycans levels or a strong clinical suspicion of Hunter''s syndrome, as identified in the index case, is a prerequisite for enzyme activity testing. Urinary mucopolysaccharide(MPS) level was 69.6mg/mmol(normal range is 0.0 – 11.6mg/mmol), and the confirming MPS electrophoresis analysis showed elevated heparan sulphate in the urine sample. Enzyme activity testing, with absent or very low iduronate-2-sulfatase activity, is diagnostic. However, the scarce availability and high cost of these tests is another constraint in making a diagnosis.

Conclusion

Identification and management of mucopolysaccharidosis type II pose a problem in resource-constrained countries due to late presentation, lack of facility for diagnosis and treatment, cost and expertise required for the management.     

Effect of cobalt addition on the corrosion behavior of near equiatomic NiTi shape memory alloy in normal saline solution: electrochemical and XPS studies

The electrochemical and corrosion (uniform and localized) behavior of a binary Ni₅₂Ti₄₈ shape memory alloy (SMA) and two ternary Ni₅₂Ti_48−xCo_x (x = 1.5 and 4.0 wt%) SMAs were studied. Measurements were conducted in 0.9% NaCl solution at 37 °C employing various electrochemical methods. These include: linear polarization resistance (LPR), linear sweep voltammetry (LSV), chronoamperometry and dynamic electrochemical impedance spectroscopy (DEIS). Such measurements were complemented with scanning electron microscopy (SEM) and X-ray photoelectron spectroscopy (XPS) analysis. Results revealed that the addition of alloyed Co to NiTi significantly reduced the uniform corrosion rate of the studied SMA and greatly enhanced its pitting corrosion resistance. XPS measurements evidenced high stability of the passive layer and limited adsorption of chloride ions. Additionally, it was found that the passive layer remained primarily composed of titanium oxides. Microstructure changes accompanying the addition of Co were also used to account for its role in improving the corrosion resistance of these materials.

The electrochemical and corrosion (uniform and localized) behavior of a binary Ni₅₂Ti₄₈ shape memory alloy (SMA) and two ternary Ni₅₂Ti_48−xCo_x (x = 1.5 and 4.0 wt%) SMAs were studied.     

Performance of the OptiMAL test for malaria diagnosis among suspected malaria patients at the rural health centers

The OptiMAL test detects both Plasmodium falciparum and P. vivax malaria infections. In this study, we evaluated the performance of the OptiMAL test at the Basic Health Units (BHUs) and the District Health Quarter (DHQ) Center in rural villages of Punjab, Pakistan that provide minimal health services. Two sets of blood specimens obtained from 930 suspected malaria patients attending these BHUs were tested at BHUs and the DHQ Center by microscopy and the OptiMAL test. At the BHUs, 231 (25%) of the patients were positive by microscopy and 278 (30%) patients tested positive by the OptiMAL test. At the DHQ Center, microscopic analysis of a second set of specimens from the same patients confirmed the malaria infection in 386 (42%) patients and the OptiMAL test result was positive in 300 (32%) patients. To determine the performance of OptiMAL test at the BHUs and the DHQ Center, all data were compared with microscopy results obtained at the DHQ Center. The OptiMAL test results for P. falciparum at the BHUs were comparable to those of the OptiMAL test at the DHQ Center. However, the sensitivity, positive predictive value (PPV), and negative predictive value (NPV) of the OptiMAL test were considerably lower for P. vivax infections than for P. falciparum infections, irrespective of whether the test was performed at the BHUs or at the DHQ Center (P. falciparum: sensitivity = 78-85%, PPV = 89-97%, NPV = 96-98%; P. vivax: sensitivity = 61-76%, PPV = 88-95%, NPV = 90-93%). The OptiMAL test also detected a number of false-positive and false-negative results at both the BHUs and the DHQ Center. The false-positive results ranged from 1% to 2%; however, the number of false-negative results was much higher (BHUs: P. falciparum = 22%, P. vivax = 39%; DHQ Center: P. falciparum = 15%, P. vivax = 24%). In conclusion, these results, when combined with other advantages of the OptiMAL test, suggest that this test can be used by relatively inexperienced persons to diagnose malaria infection in rural areas where facilities for microscopy are not available.     

Interleukin-10 promoter polymorphisms in rheumatoid arthritis and Felty's syndrome

OBJECTIVE: To examine whether promoter polymorphisms associated with variation in interleukin-10 (IL-10) production are relevant to the development of rheumatoid arthritis (RA) or Felty's syndrome (FS). METHODS: DNA was obtained from 44 FS patients, 117 RA patients and 295 controls. The promoter region between -533 and - 1120 was amplified by polymerase chain reaction, and polymorphisms detected by restriction enzyme digest or sequence-specific oligonucleotide probing. RESULTS: We found no significant difference in allele or haplotype frequencies between the groups. CONCLUSION: There is no association between FS or RA and these recently identified IL-10 promoter polymorphisms. Other genetic or environmental factors could explain the alterations in IL-10 levels seen in these conditions.      

Challenges and prospects in the public health research system in the occupied Palestinian territory: a qualitative study

Background

A public health research system is the bedrock of health systems to improve population health, system responsiveness, and equity. An international concern, referred to as the 10/90 gap, is that less than 10% of global funds are devoted to diseases or conditions that account for 90% of the global disease burden, particularly in developing countries. Palestinian health research is progressing, but it is not sufficiently investigated, with a remarkable knowledge gap on its conceptualisation, stewardship, stakeholders, and capacity and resources. The aim of this study was to understand the Palestinian public health research system by investigating challenges related to the system components that need to be strengthened.

How many sputum smears are necessary for case finding in pulmonary tuberculosis?

We reviewed the laboratory registers of 42 tuberculosis (TB) diagnostic centres in the southern region of Ethiopia to determine the value of submitting serial sputum samples for the diagnosis of pulmonary TB (PTB) and estimate the proportion of suspects that are smear positive. A total of 15,821 TB suspects submitted three smears each (47,463 smears) in 2000 with a median of 228 per centre. The smear positivity rate (two or more positive smears) was 25%, with a range of 16.8-36.4% per zone. This exceeds the international recommendations of examining 10 suspects to identify one case. A total of 4099 (26%) of the suspects had at least one positive smear with 3753 (91.6%) of the first specimens being positive. A further 303 (7.4%) were negative in the first specimen but had a positive second specimen and 42 (1%) suspects had two negative specimens followed by a positive third smear. The value of the third sputum is negligible as 99% of the cases were identified from the first and second specimens. Reducing the number of specimens to two or even one would have multiple advantages in countries where laboratories are usually over-burdened and are not easily accessible to the population. Submission of two specimens on the same day could improve compliance in submitting samples and collecting results as the number of diagnostic visits would be reduced without significant loss of sensitivity.