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1.
Genes (Basel) ; 15(3)2024 02 23.
Article in English | MEDLINE | ID: mdl-38540341

ABSTRACT

Heterozygous carriers of the glucocerebrosidase 1 (GBA) L444P Gaucher mutation have an increased risk of developing Parkinson's disease (PD). The GBA mutations result in elevated alpha synuclein (aSyn) levels. Heterozygous mice carrying one allele with the L444P mutation knocked-into the mouse gene show increased aSyn levels and are more sensitive to motor deficits following exposure to the neurotoxin (1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine) MPTP than wild-type mice. Paraquat (PQ), a herbicide, increases PD risk in most studies. Its effects on the brain involve alterations in the gut microbiome. Exposure to dextran sulfate sodium (DSS), a mouse model of colitis, can be used to determine whether gut microbiome alterations are sufficient to induce PD-relevant phenotypes. We rederived the A53T-L444P and A53T mouse lines to assess whether PQ, PQ in combination with radiation exposure (IR), and DSS have differential effects in A53T and A53T-L444P mice and whether these effects are associated with alterations in the gut microbiome. PQ and PQ + IR have differential effects in A53T and A53T-L444P mice. In contrast, effects of DSS are only seen in A53T-L444P mice. Exposure and genotype modulate the relationship between the gut microbiome and behavioral performance. The gut microbiome may be an important mediator of how environmental exposures or genetic mutations yield behavioral and cognitive impacts.


Subject(s)
Gastrointestinal Microbiome , Parkinson Disease , Mice , Animals , Paraquat/toxicity , Dextran Sulfate , Parkinson Disease/genetics , Glucosylceramidase/genetics , Cognition
2.
Clin Orthop Surg ; 2(1): 13-21, 2010 Mar.
Article in English | MEDLINE | ID: mdl-20190996

ABSTRACT

BACKGROUND: There are no reports of the pressure changes across the foot after extraarticular subtalar arthrodesis for a planovalgus foot deformity in cerebral palsy. This paper reviews our results of extraarticular subtalar arthrodesis using a cannulated screw and cancellous bone graft. METHODS: Fifty planovalgus feet in 30 patients with spastic diplegia were included. The mean age at the time of surgery was 9 years, and the mean follow-up period was 3 years. The radiographic, gait, and dynamic foot pressure changes after surgery were investigated. RESULTS: All patients showed union and no recurrence of the deformity. Correction of the abduction of the forefoot, subluxation of the talonavicular joint, and the hindfoot valgus was confirmed radiographically. However, the calcaneal pitch was not improved significantly after surgery. Peak dorsiflexion of the ankle during the stance phase was increased after surgery, and the peak plantarflexion at push off was decreased. The peak ankle plantar flexion moment and power were also decreased. Postoperative elevation of the medial longitudinal arch was expressed as a decreased relative vertical impulse of the medial midfoot and an increased relative vertical impulse (RVI) of the lateral midfoot. However, the lower than normal RVI of the 1st and 2nd metatarsal head after surgery suggested uncorrected forefoot supination. The anteroposterior and lateral paths of the center of pressure were improved postoperatively. CONCLUSIONS: Our experience suggests that the index operation reliably corrects the hindfoot valgus in patients with spastic diplegia. Although the operation corrects the plantar flexion of the talus, it does not necessarily correct the plantarflexed calcaneus and forefoot supination. However, these findings are short-term and longer term observations will be needed.


Subject(s)
Arthrodesis/methods , Cerebral Palsy/complications , Flatfoot/surgery , Foot Deformities, Acquired/surgery , Adolescent , Bone Screws , Bone Transplantation , Child , Child, Preschool , Female , Flatfoot/diagnostic imaging , Flatfoot/etiology , Foot/diagnostic imaging , Foot Deformities, Acquired/etiology , Humans , Leg , Male , Muscle Spasticity/complications , Muscle, Skeletal/surgery , Postoperative Complications , Radiography , Subtalar Joint/diagnostic imaging , Subtalar Joint/surgery , Walking/physiology
3.
Yonsei Med J ; 50(2): 257-61, 2009 Apr 30.
Article in English | MEDLINE | ID: mdl-19430560

ABSTRACT

PURPOSE: To evaluate the diagnosis and treatment of the carpal tunnel syndrome (CTS) due to space occupying lesions (SOL). MATERIALS AND METHODS: Eleven patients and 12 cases that underwent surgery for CTS due to SOL were studied retrospectively. We excluded SOL caused by bony lesions, such as malunion of distal radius fracture, volar lunate dislocation, etc. The average age was 51 years. There were 3 men and 8 women. Follow-up period was 12 to 40 months with an average of 18 months. The diagnosis of CTS was made clinically and electrophysiologically. In patients with swelling or tenderness on the area of wrist flexion creases, magnetic resonance imaging (MRI) and/or computed tomogram (CT) were additionally taken as well as the carpal tunnel view. We performed conventional open transverse carpal ligament release and removal of SOL. RESULTS: The types of lesion confirmed by pathologic examination were; tuberculosis tenosynovitis in 3 cases, nonspecific tenosynovitis in 2 cases, and gout in one case. Other SOLs were tumorous condition in five cases, and abnormal palmaris longus hypertrophy in 1 case. Tumorous conditions were due to calcifying mass in 4 cases and ganglion in 1 case. Following surgery, all cases showed alleviation of symptom without recurrence or complications. CONCLUSION: In cases with swelling or tenderness on the area of wrist flexion creases, it is important to obtain a carpal tunnel view, and MRI and/or CT should be supplemented in order to rule out SOLs around the carpal tunnel, if necessary.


Subject(s)
Carpal Tunnel Syndrome/diagnosis , Carpal Tunnel Syndrome/etiology , Adult , Aged , Carpal Tunnel Syndrome/pathology , Female , Gout , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Retrospective Studies , Tenosynovitis , Tomography, X-Ray Computed , Wrist/pathology , Wrist/surgery
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