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1.
JPGN Rep ; 3(2): e184, 2022 May.
Article in English | MEDLINE | ID: mdl-37168921

ABSTRACT

Heterotopic gastric mucosa (HGM) in the colon and small bowel is a very rare finding. We report a case of HGM in the rectum of an 8-year-old child with a history of eosinophilic esophagitis after having a colonoscopy to evaluate for inflammatory bowel disease. The colonoscopy was normal except for rectal tissue erythema and edema. Inflammatory bowel disease has been reported in some cases of children with eosinophilic changes of the esophagus. The child had intermittent rectal bleeding thought to be due to constipation. Interestingly, when the patient was placed on a proton pump inhibitor for the treatment of eosinophilic esophagitis, the rectal bleeding decreased. After our patient ceased proton pump inhibitor therapy, he experienced a large amount of rectal bleeding. Histological findings revealed HGM in the colon/rectum. An extensive review of the incidence, diagnosis, and treatment is discussed.

2.
J Neurophysiol ; 123(2): 718-725, 2020 02 01.
Article in English | MEDLINE | ID: mdl-31693434

ABSTRACT

Friedreich's ataxia (FA) is an inherited disease that causes degeneration of the nervous system. Features of FA include proprioceptive and cerebellar deficits leading to impaired muscle coordination and, consequently, dysmetria in force and time of movement. The aim of this study is to characterize dysmetria and its association to disease severity. Also, we examine the neural mechanisms of dysmetria by quantifying the EMG burst area, duration, and time-to-peak of the agonist muscle. Twenty-seven individuals with FA and 13 healthy controls (HCs) performed the modified Functional Ataxia Rating Scale and goal-directed movements with the ankle. Dysmetria was quantified as position and time error during dorsiflexion. FA individuals exhibited greater time but not position error than HCs. Moreover, time error correlated with disease severity and was related to increased agonist EMG burst. Temporal dysmetria is associated to disease severity, likely due to altered activation of the agonist muscle.NEW & NOTEWORTHY For the first time, we quantified spatial and temporal dysmetria and its relation to disease severity in Friedreich's ataxia (FA). We found that FA individuals exhibit temporal but not spatial dysmetria relative to healthy controls. Temporal dysmetria correlated to disease severity in FA and was predicted from an altered activation of the agonist muscle. Therefore, these results provide novel evidence that FA exhibit temporal but not spatial dysmetria, which is different from previous findings on SCA6.


Subject(s)
Foot/physiopathology , Friedreich Ataxia/physiopathology , Motor Activity/physiology , Muscle, Skeletal/physiopathology , Adolescent , Adult , Child , Electromyography , Female , Humans , Male , Middle Aged , Severity of Illness Index , Time Factors , Young Adult
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