ABSTRACT
Objective:To determine the clinical, pathological and imaging phenotypes of pediatric patients with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) myopathy to explore its diagnostic strategies.Methods:The clinical features of 10 pediatric patients with anti-HMGCR myopathy in the Department of Neurology, Peking University First Hospital from July 2014 to July 2021 were collected. Muscle biopsies were performed in all patients, with histological, enzymatic histochemical and immunohistochemical staining.Results:The male to female ratio was 6∶4, the age of onset was 3-16 (8.3±3.7) years, 2 cases had subacute onset, and 8 cases experienced chronic progressive onset. All patients presented with neck and proximal muscular weakness of all limbs. Skin rash was observed in 2 cases. Serum creatine kinase was 998-27 981 U/L. The electromyography results were available from 6 cases, who experienced myogenic changes. The muscle magnetic resonance imaging was performed in 5 cases and revealed muscle edema predominantly in posterior compartment of thigh, with mild fatty infiltrate in 2 cases. An initial diagnosis was limb-girdle muscular dystrophy in 7 cases, but with subsequently negative genetic testing. Muscle biopsies revealed scattered necrotic fibers and regenerating fibers, complement deposition in sarcolemma basement-membrane areas of non-necrotic fibers and a few of lymphocyte infiltrate in all specimens. Moreover, a high frequency of major histocompatibility complex Ⅰ expression in muscle fibers was observed in 9 cases, proliferation of connective tissue of endomysium in 8 cases, muscle fiber hypertrophy in 4 cases and vacuoles in 2 cases.Conclusions:Pediatric anti-HMGCR myopathy is frequently misdiagnosed as muscular dystrophy. Systematic consideration of anti-HMGCR myopathy and testing for myositis specific antibody in children with genetically unconfirmed muscular dystrophy may help the differential diagnosis.
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Amplitude integrated electroencephalogram (aEEG), also known as cerebral function monitor (CFM), is a non-invasive detection of brain function, having good accuracy in early diagnosis and prognosis evaluation of neonatal brain damage. Today, doctors classify amplitude integrated electroencephalogram mainly based on its waveform and amplitude, then they make correct diagnosis of brain function of neonates. However, in some cases, the amplitude and waveform of aEEG are not very clearly shown, the only way is relying on doctors' experience to give out judgement, which has some subjective factors, so doctors can not present accurate diagnostic information. To solve this problem by the use of non-linear dynamics, we calculate and analyze the correlation dimension, Lyapunov exponent and approximate entropy of the aEEG for neonates with convulsions and for normal neonates; then we take these three characters as a three-dimensional vector; finally, the aEEG of neonates with convulsions and the aEEG of normal neonates are distributed into two parts in threedimensional space, thus the correlation dimension, Lyapunov exponent and approximate entropy of the aEEG can reflect the internal information of neonatal brain function. Therefore, it can be used as a new method for studying neonatal aEEG.
Subject(s)
Humans , Infant, Newborn , Brain , Physiology , Electroencephalography , Methods , Neonatal Screening , Methods , Nonlinear Dynamics , Seizures , Diagnosis , Signal Processing, Computer-AssistedABSTRACT
As an emerging tumor therapy, high intensity focused ultrasound (HIFU) therapy has difficulty in controlling its dosage due to the complex human tissues. The dosage is related to the tumor such as its depth, size, characteristics and the tissue performances of its growth site. The existing cases are applied to establishing a repository with the above-mentioned parameters of the tumor analyzed. Then reasoning and self-learning are performed. So, the therapeutic dosage can be provided to the clinician when a new case occurs.
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Objectives To study the changes of gastrointestinal hormones in chronic constipation. Methods 17 outpatient chronic constipation patients, and 10 normal persons were respectively chosen as observation group and control group. Fasting blood samples were taken in all patients. The serum levels of somatostatin (SS) and substance P (SP) were tested using RIA method.Results The serum level of SS and SP in observation group were (120.57?27.84)pg/ml and (7.68?2.5)pg/ml respectively, significantly higher than that in control group (P
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In modern surgeries, ESU is an important electrosurgical equipment. However, the interference caused by ESU usually affects real-time monitoring of the patient. To solve these problems, the paper introduces some new ideas in analog circuits. To the problem of interference and base-line excursion, this paper proposes an adaptive comb filter with Phase-Locked Loop(PLL), besides digital comb filters. Following the frequency of power and sampling accordingly, this method could easily clear the interference, which could make the cost reduced.