Other rapid screening tests have been developed such as dipsticks, latex and slide agglutination tests.The microscopic agglutination test (MAT) is the reference test for the diagnosis of leptospirosis. MAT is a test where serial dilutions of patient sera are mixed with different serovars of Leptospira. The mixture is then examined under a dark field microscope to look for agglutination. The highest dilution where 50% agglutination occurs is the result. MAT titres of 1:100 to 1:800 are diagnostic of leptospirosis. A fourfold or greater rise in titre of two sera taken at symptoms onset and three to 10 days of disease onset confirms the diagnosis. During the acute phase of the disease, MAT is not specific in detecting a serotype of Leptospira because of cross-reactivity between the serovars. In the convalescent phase, MAT is more specific in detecting the serovar types. MAT requires a panel of live antigens and requires laborious work. Molecular tests
Leptospiral DNA can be amplified by using polymerase chain reaction (PCR) from serum, urine, aqueous humour, CSF, and autopsy specimens. It detects the presence of bacteria faster than MAT during the first few days of infection without waiting for the appearance of antibodies. As PCR detects the presence of leptospiral DNA in the blood it is useful even when the bacteria is killed by antibiotics. Imaging
In those who have lung involvement, a chest X-ray may demonstrate diffuse alveolar opacities. Diagnostic criteria
In 1982, the World Health Organization (WHO) proposed the Faines criteria for the diagnosis of leptospirosis.
This means the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.Two adult siblings, both heterozygous for two particular NBS1 nonsense mutations displayed cellular sensitivity to radiation, chromosome instability and fertility defects, but not the developmental defects that are typically found in other NBS patients. These individuals appear to be primarily defective in homologous recombination, a process that accurately repairs double-strand breaks, both in somatic cells and during meiosis. Diagnosis
Treatment
There is no treatment for NBS; however in those with agammaglobulinemia, intravenous immunoglobulin may be started. Prophylactic antibiotics are considered to prevent urinary tract infections as those with NBS often have congenital kidney malformations. In the treatment of malignancies, radiation therapy, alkylating antineoplastic agents, and epipodophyllotoxins are not used, and methotrexate can be used only with caution; the dose should be limited. Bone marrow transplants and hematopoietic stem cell transplants are also considered in the treatment of NBS. The supplementation of vitamin E is also recommended. A ventriculoperitoneal shunt can be placed in patients with hydrocephalus, and surgical intervention for congenital deformities is also attempted.