Leptospirosis in Retirees Living in Rural Areas: A Poorly Recognized Emerging Problem in Mainland France?

Among 40 patients diagnosed with leptospirosis in 3 hospitals of western mainland France between 2014 and 2018, half were at least 60 years old and retired. Their exposure factors were mainly rural residential environment with limited remarkable risk factors. Better awareness and information on leptospirosis appear necessary in this population.

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.

Homozygous frameshift variants in CNTNAP1 have recently been reported in patients with arthrogryposis and abnormal axon myelination. In two brothers with severe congenital hypotonia and foot deformities, we identified compound heterozygous variants in CNTNAP1, reporting the first causative missense variant, p.(Cys323Arg).

Treatment responses in five patients with Ribbing disease including two with 466C>T missense mutations in TGFβ1.

Objective: To assess 5-year treatment responses and TGFB1 gene abnormalities in five patients with ribbing disease.

Methods: PCR analysis and bidirectional sequencing of TGFβ1 exons 1 through 7 were performed in all five patients.

Results: The five patients, four women and one man with a mean age of 34 years at symptom onset, shared the following features: severe diaphyseal pain predominating in the lower limbs with diaphyseal hyperostosis; increased radionuclide uptake at sites of pain and, in some cases at other cortical sites; asymmetric or asynchronous lesions; long symptom duration (5-18 years) despite a variety of treatments; and a delay of several years (2-15) between symptom onset and the diagnosis.