ABSTRACT
Onchocerca lupi, a nematode parasite infecting dogs and cats with a hitherto unknown arthropod vector, is also being recognised as a parasite also responsible for human eye infections. Here we describe a case of human eye infection diagnosed molecularly by nematode 12S rDNA PCR in a German patient who had travelled to Tunisia and Turkey. The patient recovered after treatment with antibiotic and anti-inflammatory therapy.
Subject(s)
Onchocerca/genetics , Onchocerca/isolation & purification , Onchocerciasis, Ocular/diagnosis , Travel , Adult , Animals , Anti-Bacterial Agents/therapeutic use , Anti-Inflammatory Agents/therapeutic use , DNA, Ribosomal/genetics , Germany , Humans , Male , Onchocerca/classification , Onchocerciasis, Ocular/drug therapy , Onchocerciasis, Ocular/parasitology , Polymerase Chain Reaction , Treatment Outcome , Tunisia , TurkeyABSTRACT
In May 2014, six patients presented in Germany with a Sarcocystis-associated febrile myositis syndrome after returning from Tioman Island, Malaysia. During two earlier waves of infections, in 2011 and 2012, about 100 travellers returning to various European countries from the island were affected. While the first two waves were associated with travel to Tioman Island mostly during the summer months, this current series of infections is associated with travel in early spring, possibly indicating an upcoming new epidemic.
Subject(s)
Sarcocystis/isolation & purification , Sarcocystosis/diagnosis , Travel , Adolescent , Anti-Infective Agents/therapeutic use , Child , Female , Fever/etiology , Germany , Headache/etiology , Humans , Infant , Malaysia , Male , Myalgia/etiology , Prednisolone/therapeutic use , Sarcocystosis/drug therapy , Trimethoprim, Sulfamethoxazole Drug Combination/therapeutic useABSTRACT
In March 2014, an infection with the nematode Dirofilaria repens was diagnosed in a German citizen in the federal state of Saxony-Anhalt. The patient had developed an itching subcutaneous nodule containing a female worm, which was identified as D. repens by 12S ribosomal ribonucleic acid (rRNA) gene sequencing. Autochthonous human D. repens infections have not been described in Germany so far, but this finding is consistent with the recent detection of D. repens in mosquitoes from east Germany.
Subject(s)
Dirofilaria repens/genetics , Dirofilaria repens/isolation & purification , Dirofilariasis/diagnosis , Subcutaneous Tissue/parasitology , Adult , Animals , DNA, Helminth/genetics , Female , Genes, rRNA , Germany , Humans , Polymerase Chain Reaction , Sequence Analysis , Subcutaneous Tissue/pathologyABSTRACT
Mutations of the connexin 26 gene (GJB2) were studied in 365 apparently unrelated individuals with profound nonsyndromic, sensorineural hearing impairment from Ghana, West Africa. Among 121 mutated chromosomes found, 110 carried the previously described R143W mutation. A total of 6 novel mutations: L79P, V178A, R184Q, A197S, I203K, and L214P, were identified, whereby I203K was based on a dinucleotide exchange and R184Q appeared to be dominant. The GJB2 variants found in Ghana tend to comprise less nonsense and frameshift mutations and more mutations located in the C-terminal half of the molecule than the variants found in other parts of the world.
Subject(s)
Connexins/genetics , Hearing Loss, Sensorineural/genetics , Mutation/genetics , Adolescent , Adult , Child , Connexin 26 , Connexins/chemistry , Genes, Dominant/genetics , Genes, Recessive/genetics , Genetic Testing , Genotype , Ghana , Humans , Mutation, Missense/geneticsABSTRACT
Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in the Mediterranean fever gene (MEFV). We describe two novel missense mutations in MEFV, R653H and E230K. Both were found in compound heterozygosity with the mutation M694V in single Turkish patients with clinical syndromes characteristic for FMF. DNA sequencing and PCR-RFLP typing of the families confirmed the mutations and verified recessive modes of inheritance.
