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Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective To summarize the clinical, muscle pathology and molecular biological features of late⁃onset glycogen storage disease type Ⅱ (GSDⅡ). Methods and Results Five patients with late⁃onset GSD Ⅱ diagnosed and treated in The Fifth Affiliated Hospital of Zhengzhou University from January 2013 to January 2020 were selected. The main clinical manifestations of 5 patients were weakness of raising the head, weakness of the proximal extremities, decreased muscle tone, fatigue intolerance, and dyspnea. The activity of acid α⁃glucosidase (GAA) was significantly reduced. HE staining of muscular tissues in 5 patients showed vacuole⁃like changes of different sizes, different numbers, and irregular shapes in most muscle fibers. Modified Gomori trichrome (MGT) staining showed a large number of blue and purple particles deposited in the vacuole. Periodic acid⁃Schiff (PAS) staining showed the glycogen content in the vacuoles were increased in 4 cases, and the glycogen content in the vacuoles were lost in one case. GAA gene testing showed that 9 mutations were detected in 5 patients, and 4 cases were compound heterozygous mutations, which were derived from father and mother respectively. The c.1320_1322delGAT (p.Met440del) was a deletion mutation, c.2331G＞C (p.Thr777Thr) was a synonymous mutation, c.2237G＞A (p.Trp746*) was a nonsense mutation, c.877G＞A (p.Gly293Arg) was a missense mutation, c.2238G＞C (p.Trp746Cys) was a missense mutation, c.784G＞A (p.Glu262Lys) was a missense mutation, c.2014C＞T (p.Arg672Trp) was a missense mutation, and c. 2332⁃2A＞G was a splicing mutation. One case was homozygous mutation of c. 1432G＞A (p. Gly478Arg), which originated from the mother. Among them, c. 2331G＞C, c. 1432G＞A and c. 2332⁃2A＞G were reported for the first time at home and abroad. Conclusions The clinical manifestations of late⁃onset GSD Ⅱ are weakness of proximal limbs and dyspnea. The activity of GAA in peripheral serum is decreased significantly. Muscle tissue pathology is characteristic. GAA gene mutations are mainly compound heterozygous mutation, c.2331G＞C, c.1432G＞A and c.2332⁃2A＞G are new mutations, which extended the mutation spectrum of GAA gene.

Objective To explore the treatment of difficult-to-wean patients with glycogen storage disease type Ⅱ (GSDⅡ) complicated with respiratory failure. Methods A total of 6 patients with GSDⅡ (3 children and 3 infants) who were admitted due to weak respiratory muscle and had difficulty in weaning off ventilator were treated in our hospital from October 2015 to September 2017. They received comprehensive treatment of antibiotics for ventilator-associated pneumonia, encouraging voluntary expectoration, respiratory muscle exercises, nutrition strengthening, psychological support, and enzyme replacement treatment (ERT) by using recombinant human acid α-glucosidase [rhGAA, 20 mg/(kg·time), once/biweekly]. These patients gradually transformed from invasive ventilator at biphasic positive airway pressure (BiPAP) mode and continuous positive airway pressure (CPAP) mode to non-invasive ventilator and high flow oxygen therapy. Results The respiratory function and limb muscle strength of all patients were improved after ERT and sequential weaning. With comprehensive treatment, 3 patients weaned off ventilator, one patient underwent endotracheal intubation, and 2 patients died. Conclusions With comprehensive treatment of preventing ventilator-associated pneumonia, respiratory muscle exercises, nutrition strengthening, and ERT using rhGAA, the respiratory function and limb muscle strength were improved in GSD Ⅱ patients. Programmed weaning procedure increases the treatment success rate of difficult-to-wean patients. DOI: 10.3969/j.issn.1672-6731.2019.06.004

Glycogen storage disease type Ⅱ (GSD Ⅱ), which is also called Pompe disease, is an autosomal recessive hereditary metabolic disease resulting from mutations of acid α-glucosidase (GAA). GSD Ⅱ is characterized by involvements of skeletal muscle and cardiac muscle. It has been 85 years since the discovery of GSDⅡ, and specific enzyme replacement therapy has been applied in clinic. In this review, we aim to review the milestones of GSDⅡ in clinical discovery, laboratory research, genetic diagnosis and enzyme replacement therapy and learn the development of disease research, which is helpful in inspiring and guiding clinicians to do researches.

Objective: To investigate the clinical effect of Wenzhong Xiaoyang Decoction on non-steroidal anti-inflammatory drug-related gastric ulcer. Methods: A total of 80 patients with NSAIDs-related gastric ulcer who were admitted to our hospital from February 2017 to January 2020 were selected as the research object. They were divided into a study group and a control group by random number table method, with 40 cases in each group. The patients in the control group were treated with rabeprazole by mouth, and the study group took Wenzhong Xiaoyang Decoction based on the control group. The curative effect index of TCM syndromes, the score of TCM syndromes and the efficacy under gastroscope were evaluated. Results: Comparing the efficacy of TCM syndromes of the two groups of patients, the total effective rate of the study group was 90.00 %, which was significantly higher than that of the control group (77.50 %). Compare the points of TCM syndromes (stomach pain, abdominal distension, lack of appetite, less acid, acid reflux, belching, fatigue, fatigue, loose stools) of the two groups of patients before and after treatment, there was no significant difference in the points and total points of the two groups before treatment (P>0.05). After treatment, the syndrome points and total points of the two groups of patients were significantly reduced (P<0.05). Compared with the control group, the stomach pain, abdominal distension, less appetite, acid reflux and total points of the study group were significantly reduced (P<0.05). Comparing the improvement of the mucosa of the two groups of patients under gastroscopy, the total effective rate of the study group was 97.50 %, which was significantly higher than that of the control group (87.50 %, P<0.05). Conclusion: Wenneng can significantly improve the curative effect on NSAIDs-related gastric ulcer, can better improve the symptoms such as epigastric pain, abdominal distension, and lack of food, and can obviously promote the recovery of gastric mucosa. [ABSTRACT FROM AUTHOR]

Glycogen storage disease type II (GSD II), which is also called Pompe disease, is an autosomal recessive hereditary metabolic disease resulting from mutations of acid α-glucosidase (GAA). GSD II is characterized by involvements of skeletal muscle and cardiac muscle. It has been 85 years since the discovery of GSD II, and specific enzyme replacement therapy has been applied in clinic. In this review, we aim to review the milestones of GSD II in clinical discovery, laboratory research, genetic diagnosis and enzyme replacement therapy and learn the development of disease research, which is helpful in inspiring and guiding clinicians to do researches. [ABSTRACT FROM AUTHOR]

Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Glycogen storage disease typeⅡ (GSDⅡ) is a rare progressive lysosomal storage disease caused by deficiency of acid α-glucosidase (GAA). The gene is located in 17q25.3. Diagnosis has been classically made by means of muscular biopsy. Nowadays it is more convenient to screen GAA in dried blood sample followed by GAA assessment in lymphocytes or fibroblasts or by the genetic analysis of mutations. Besides non-specific multiprofessional management, there is a specific enzyme replacement therapy (ERT) since 2006 which compensates for the missing enzyme by administration of recombinant produced enzyme. "Consensus recommendations for diagnosis and treatment of glycogen storage disease type Ⅱ", published on Natl Med J China in 2013, gives us a novel and compressive insight into this rare disease. doi: 10.3969/j.issn.1672-6731.2014.05.003

Objective In order to make a well understanding on glycogen storage disease typeⅡ (GSDⅡ), this paper explored clinical features and genetic analysis of 7 patients with late-onset glycogen storage disease typeⅡ. Methods Clinical data of 7 patients with late-onset glycogen storage disease type Ⅱ were collected and acid α-glucosidase (GAA) gene sequencing was performed. Results Seven patients who belong to 4 families were at the age of 13-31 years old. The first symptom occurred at 6-17 years old, and the age at first and definitive diagnosis was 12-29 and 12-30 years old, respectively. The initial symptoms were mostly related to limb girdle muscular atrophy and weakness. The GAA activity ranged from 0 to 5.27 nmol/(mg·h). Sequencing analysis revealed 14 sequence variants, including 2 novel mutations (Q81X and c.1355_1356delC), 2 pseudodeficiency alleles (G576S and E689K), 8 polymorphic loci, and 2 sequence variants previously related with glycogen storage disease type Ⅱ pathogenesis (W746C and D645E). Conclusions Due to the apparently diagnostic delay, prognosis of patients with glycogen storage disease type Ⅱ could be improved by increasing the clinician's awareness of the disease. It is essential to combine clinical history with GAA activity and GAA gene analysis when we make a definitive diagnosis of glycogen storage disease type Ⅱ. Though siblings share the same set of GAA mutations, the phenotype regarding the course and severity of disease could vary substantially. doi: 10.3969/j.issn.1672-6731.2014.05.008

In order to understand the latest progression on neuromuscular disorders for clinicians, this review screened and systemized the papers on neuromuscular disorders which were collected by PubMed from January 2013 to February 2014. This review also introduced the clinical diagnosis and treatment hightlights on glycogen storage disease type Ⅱ (GSD Ⅱ), Duchenne muscular dystrophy (DMD), amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). The important references will be useful for clinicians. doi: 10.3969/j.issn.1672-6731.2014.05.004

Objective To evaluate the effect of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease typeⅡ (GSDⅡ). Methods Myozyme infusion was administered based on manufacturer's recommendations at 20 mg/kg every 2 to 4 weeks, beginning at actual body weight, and was continuously treated for 6 times. No premedication was performed except 5 mg dexamethasone was administered at the first use of Myozyme. Clinical assessment was completed every day and was lasted for 16 months including motor function, the time free of ventilation, and the change of respiration parameters. Results Myozyme was well tolerated without adverse reactions. Pain on shoulder began to alleviate the next day after taking Myozyme. With the prolonged time and increased number of taking drugs, the time free of ventilation and doing in-situ stepping prolonged, and the speed of stepping in-situ also increased. Besides, the strength of lifting the upper limbs increased, and both the time and speed of walking free of ventilation prolonged. The maximus curative effect occured at the 7th month (3 months after drug withdrawal) after treatment and returned to pre-treatment levels at the 8th month (4 months after drug withdrawal). The pain on shoulder was the first symptom that got improved, and the fastest symptom that returned to baseline. Conclusions Myozyme has positive effect on ventilated patients with late-onset glycogen storage disease type Ⅱ. doi: 10.3969/j.issn.1672-6731.2014.05.009

Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Pompe disease, also known as glycogen storage disease type Ⅱ, is a rare autosomal recessive disease. With the application of enzyme replacement therapy, more and more patients with Pompe disease can survive to adulthood, and nervous system-related clinical manifestations gradually emerge. Nervous system involvement seriously affects the quality of life of patients with Pompe disease, and a systematic understanding of the clinical manifestations, imaging features and pathological changes of nervous system injury in Pompe disease is of great significance for the early identification and intervention of Pompe disease. This article reviews the research progress of neurological damage in Pompe disease.

Objective In order to make a well understanding on glycogen storage disease type II (GSD II), this paper explored clinical features and genetic analysis of 7 patients with late-onset glycogen storage disease type II . Methods Clinical data of 7 patients with late-onset glycogen storage disease type 11 were collected and acid α-glucosidase (GAA) gene sequencing was performed. Results Seven patients who belong to 4 families were at the age of 13 -- 31 years old. The first symptom occurred at 6 -- 17 years old, and the age at first and definitive diagnosis was 12 -- 29 and 12 -- 30 years old, respectively. The initial symptoms were mostly related to limb girdle muscular atrophy and weakness. The GAA activity ranged from 0 to 5.27 nmol/(mg • h). Sequencing analysis revealed 14 sequence variants, including 2 novel mutations (Q81X and c.l355_1356delC), 2 pseudodeficiency alleles (G576S and E689K), 8 polymorphic loci, and 2 sequence variants previously related with glycogen storage disease type II pathogenesis (W746C and D645E). Conclusions Due to the apparently diagnostic delay, prognosis of patients with glycogen storage disease type 11 could be improved by increasing the clinician's awareness of the disease. It is essential to combine clinical history with GAA activity and GAA gene analysis when we make a definitive diagnosis of glycogen storage disease type 11 . Though siblings share the same set of GAA mutations, the phenotype regarding the course and severity of disease could vary substantially. [ABSTRACT FROM AUTHOR]

Objective To evaluate the effect of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease type 11 (GSD 11). Methods Myozyme infusion was administered based on manufacturer's recommendations at 20 mg/kg every 2 to 4 weeks, beginning at actual body weight, and was continuously treated for 6 times. No premedication was performed except 5 mg dexamethasone was administered at the first use of Myozyme. Clinical assessment was completed every day and was lasted for 16 months including motor function, the time free of ventilation, and the change of respiration parameters. Results Myozyme was well tolerated without adverse reactions. Pain on shoulder began to alleviate the next day after taking Myozyme. With the prolonged time and increased number of taking drugs, the time free of ventilation and doing in-situ stepping prolonged, and the speed of stepping in-situ also increased. Besides, the strength of lifting the upper limbs increased, and both the time and speed of walking free of ventilation prolonged. The maximus curative effect occured at the 7th month (3 months after drug withdrawal) after treatment and returned to pre - treatment levels at the 8th month (4 months after drug withdrawal). The pain on shoulder was the first symptom that got improved, and the fastest symptom that returned to baseline. Conclusions Myozyme has positive effect on ventilated patients with late - onset glycogen storage disease type 11 . [ABSTRACT FROM AUTHOR]

Background Late-onset glycogen storage disease type II (GSD II, Pompe disease) is an autosomal recessive disease exhibiting progressive proximal skeletal muscle weakness and respiratory muscle involvement, caused by deficiency of the lysosomal enzyme acid α - glucosidase (GAA). Most of patients died of respiratory failure. Methods Eleven patients with late-onset glycogen storage disease type 11 underwent respiratory function evaluation, whose diagnosis was confirmed by muscle pathology, GAA activity assay and gene analysis. Respiratory function evaluation included upright and supine position of forced vital capacity (FVC), forced expiratory volume at the first second (FEV1), maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP) and cough peak flow (CPF). All data were compared with predicted value. The decreased value between upright and supine position FVC ( Δ FVC) were calculated. The correlation between respiratory function and the age of onset, disease course, motor function, GAA activity were analyzed. Results All of 11 patients with late-onset glycogen storage disease type 11 showed declined respiratory function compared with predicted value. The upright FVC, upright FEV,, Δ FVC, MIP, MEP and CPF declined in 10, 10, 8, 11, 10, and 10 patients, respectively. All patients had normal FEV1/FVC in both upright and supine position. There was no correlation between upright FVC, Δ FVC and the onset age, disease course, motor function, GAA activity statistically. Conclusions Pulmonary dysfunction is common in late - onset glycogen storage disease type II , with restrictive ventilatory impairment more predominant, which is caused by inspiratory muscle weakness. [ABSTRACT FROM AUTHOR]

Glycogen storage disease type II (GSD II) is a rare autosomal recessive hereditary metabolic disorder characterized by progressive atrophy and weakness of skeletal muscle. It can be confirmed by clinical history, acid α - glucosidase (GAA) testing and GAA mutations. Early targeting treatment and nursing can improve the prognosis and quality of life of patients with GSD II. Progress in genetic diagnosis and management of GSD II will be reviewed in this paper. [ABSTRACT FROM AUTHOR]

Glycogen storage disease type II (GSD II) is a rare progressive lysosomal storage disease caused by deficiency of acid α.glucosidase (GAA). The gene is located in 17q25.3. Diagnosis has been classically made by means of muscular biopsy. Nowadays it is more convenient to screen GAA in dried blood sample followed by GAA assessment in lymphocytes or fibroblasts or by the genetic analysis of mutations. Besides non . specific multiprofessional management, there is a specific enzyme replacement therapy (ERT) since 2006 which compensates for the missing enzyme by administration of recombinant produced enzyme. "Consensus recommendations for diagnosis and treatment of glycogen storage disease type II ", published on Natl Med J China in 2013, gives us a novel and compressive insight into this rare disease. [ABSTRACT FROM AUTHOR]

In order to understand the latest progression on neuromuscular disorders for clinicians, this review screened and systemized the papers on neuromuscular disorders which were collected by PubMed from January 2013 to February 2014. This review also introduced the clinical diagnosis and treatment hightlights on glycogen storage disease type II (GSD II), Duchenne muscular dystrophy (DMD), amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). The important references will be useful for clinicians. [ABSTRACT FROM AUTHOR]