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Early Peripheral Nerve Involvement at the Time of Coughing in Patients With Intronic Expansion.

Neurol Genet

August 2024

From the Neurology Department (S.F., L.M.), University Hospital of Limoges; UR20218-NEURIT (S.F., P. Chazelas, L.M., A.-S.L.), University of Limoges; Biochemistry and Molecular Genetic Department (P. Chazelas, A.-S.L.), University Hospital of Limoges; Neurology Department (P. Cintas, P.G.); Department of Respiratory Medicine (D.B., L.G.), University Hospital of Toulouse; Neurology Department (L.E.), Cahors Hospital; and Department of Respiratory Medicine (B.M.), University Hospital of Limoges, France.

Objectives: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome results from variations in and is mostly caused by intronic biallelic pathogenic expansions (RE-). Refractory chronic cough (RCC) is frequently observed for years to decades preceding ataxia onset. Whether peripheral nerves are involved in the presymptomatic phase characterized by RCC is uncertain.

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Introduction: Isolated musculocutaneous nerve injuries occur rarely due to their anatomical location. We present our patient with a musculocutaneous nerve injury in a motorcyclist.

Case: The patient was initially treated for a motorcycle accident.

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Purpose: Periprosthetic joint infection (PJI) following total knee arthroplasty (TKA) presents significant challenges, especially in elderly and comorbid patients, often necessitating revision surgeries. We report on a series of patients with confirmed PJI of the knee and concomitant soft-tissue/extensor apparatus defects, treated by using pedicled myocutaneous medial or lateral sural artery perforator (MSAP/LSAP) gastrocnemius flaps.

Methods: Our retrospective study at the Center for Musculoskeletal Infections, included patients with knee PJI undergoing pedicled myocutaneous MSAP/LSAP gastrocnemius flap reconstruction for combined soft tissue and extensor apparatus defects.

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Maternal deprivation, as a result of the artificial rearing (AR) paradigm, disturbs electrophysiological and histological characteristics of the peripheral sensory sural (SU) nerve of infant and adult male rats. Such changes are prevented by providing tactile or social stimulation during isolation. AR also affects the female rat's brain and behavior; however, it is unknown whether this early adverse experience also alters their SU nerve development or if tactile stimulation might prevent these possible developmental effects.

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Distal sensory polyneuropathy (DSP) and distal neuropathic pain (DNP) remain significant challenges for older people with HIV (PWH), necessitating enhanced clinical attention. HIV and certain antiretroviral therapies (ARTs) can compromise mitochondrial function and impact mitochondrial DNA (mtDNA) replication, which is linked to DSP in ART-treated PWH. This study investigated mtDNA, mitochondrial fission and fusion proteins, and mitochondrial electron transport chain protein changes in the dorsal root ganglions (DRGs) and sural nerves (SuNs) of 11 autopsied PWH.

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