Control of intestinal nematode infections by chemotherapy: mass treatment versus diagnostic screening

На сегодняшний день в базе данных Online Mendelian Inheritance in Man (OMIM) описано более 6613 заболеваний и фенотипов, 4241 имеют доказанную генетическую основу, не менее 45% вкючают офтальмологические проявления. В статье приведен ряд клинический примеров пациентов с офтальмологическими симптомами различных генетических заболеваний (алкаптонурия, болезнь Штаргардта, синдром микроцефалии с или без хориоретинопатии; астроцитарная гамартома) с целью демонстрации эффективного клинико-диагностического скрининга генетической патологии у пациентов. So far, the Online Mendelian Inheritance in Man (OMIM) database describes more than 6613 diseases and phenotypes, 4241 have a proven genetic basis, 45% of which are combined with ophthalmological manifestations. The article provides a number of clinical examples of patients with ophthalmological manifestations of various genetic diseases (alcaptonuria, Stadgart ‘s disease, microcephaly syndrome with or without choriretinopathy; Astrocytic gamartoma) to demonstrate effective clinical-diagnostic screening of genetic pathology in patients.

Download Full-text

Faculty Opinions recommendation of Adverse and beneficial secondary effects of mass treatment with azithromycin to eliminate blindness due to trachoma in Nepal.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1009448.126907 ◽

2002 ◽

Author(s):

Gary Lum

Keyword(s):

Mass Treatment ◽

Secondary Effects

Download Full-text

Microbiological Performance of Multi-Stage Stabilization Ponds for Effluent Use in Agriculture

Water Science & Technology ◽

10.2166/wst.1991.0605 ◽

1991 ◽

Vol 23 (7-9) ◽

pp. 1517-1524 ◽

Cited By ~ 9

Author(s):

M. M. Saqqar ◽

M. B. Pescod

Keyword(s):

Environmental Parameters ◽

Complete Removal ◽

Faecal Coliform ◽

Winter Period ◽

Intestinal Nematode ◽

Stabilization Ponds ◽

Multi Stage ◽

Guideline Value ◽

Temperature Dependent Model ◽

Egg Removal

The paper presents data on total and faecal coliform removal and on intestinal nematode egg removal achieved in the Al-Samra stabilization ponds in Jordan during the winter period December 1986 to March 1987. A total retention of 34 days in the series of 10 ponds was able to achieve complete removal of nematode eggs at the pond temperature 12-15°C but was not able to meet the WHO guideline value for faecal conforms of ≤ 1000/100 ml. In addition to retention time having a positive effect on faecal conform die-off, it was shown that surface organic loading, pond pH, BOD5 concentration, and depth, influenced the rate of faecal coliform die-off. It became apparent that interactions existed among the operational and environmental parameters but that the simple time-and-temperature-dependent model for faecal conform die-off was no longer appropriate.

Download Full-text

Prospects for trachoma elimination through mass treatment targeted at children

Agent-Directed Simulation Symposium (ADS 2016) ◽

10.22360/springsim.2016.ads.020 ◽

2016 ◽

Cited By ~ 1

Keyword(s):

Mass Treatment

Download Full-text

Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes

Scientific Reports ◽

10.1038/s41598-019-50798-6 ◽

2019 ◽

Vol 9 (1) ◽

Cited By ~ 1

Author(s):

Do Hyeon Cha ◽

Heon Yung Gee ◽

Raul Cachau ◽

Jong Mun Choi ◽

Daeui Park ◽

...

Keyword(s):

Genetic Diagnosis ◽

Kidney Injury ◽

Genetic Identification ◽

Diagnostic Screening ◽

Renal Hypouricemia ◽

Pathogenic Variants ◽

Whole Exome ◽

Causal Variants ◽

Coding Variants ◽

Independent Cohort

Abstract Differentiating between inherited renal hypouricemia and transient hypouricemic status is challenging. Here, we aimed to describe the genetic background of hypouricemia patients using whole-exome sequencing (WES) and assess the feasibility for genetic diagnosis using two founder variants in primary screening. We selected all cases (N = 31) with extreme hypouricemia (<1.3 mg/dl) from a Korean urban cohort of 179,381 subjects without underlying conditions. WES and corresponding downstream analyses were performed for the discovery of rare causal variants for hypouricemia. Two known recessive variants within SLC22A12 (p.Trp258*, pArg90His) were identified in 24 out of 31 subjects (77.4%). In an independent cohort, we identified 50 individuals with hypouricemia and genotyped the p.Trp258* and p.Arg90His variants; 47 of the 50 (94%) hypouricemia cases were explained by only two mutations. Four novel coding variants in SLC22A12, p.Asn136Lys, p.Thr225Lys, p.Arg284Gln, and p.Glu429Lys, were additionally identified. In silico studies predict these as pathogenic variants. This is the first study to show the value of genetic diagnostic screening for hypouricemia in the clinical setting. Screening of just two ethnic-specific variants (p.Trp258* and p.Arg90His) identified 87.7% (71/81) of Korean patients with monogenic hypouricemia. Early genetic identification of constitutive hypouricemia may prevent acute kidney injury by avoidance of dehydration and excessive exercise.

Download Full-text