OBJECTIVEType III glycogen storage disease (GSD-III, McKusick 232400), is a rare autosomal recessive disorder, also known as Cori's or Forbe's disease. The affected enzyme is amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debrancher enzyme, GDE or amylogluco-sidase, AGL), which is responsible for the debranching of the glycogen molecule during catabolism. The AGL gene is located on chromosome 1p21 and contains 35 exons translated in a monomeric protein product. The clinical manifestations of GSD-III are represented by hepatomegaly, recurrent hypoglycemia, seizures, growth failure, dysmorphism, hyperlipidemia, raised transaminases and creatine kinase concentrations and, in a number of subjects, myopathy and cardiomyopathy. The hepatocellular adenoma, hepatocellular carcinoma, diabetes mellitus and liver fibrosis remain rare events. The diagnosis of debrancher deficiency was established by laboratory tests, electromyography (EMG), and muscle and liver biopsy.

METHODSWe studied six GSD-III families after patients or parental consent and the clinical characteristics were documented. Analysis of 33 exons and part exon-intron boundaries of the AGL gene in patients and their parents were carried out by PCR and direct DNA sequencing.

RESULTSThe clinical features included hepatomegaly, splenomegaly, recurrent hypoglycemia, hyperlipidemia, growth failure, raised transaminases and acidosis. Administration of epinephrine 2 hours after a carbohydrate meal could provoke normal rise of blood glucose in the affected individuals, but could not evoke any response after overnight fasting. Administration of raw-corn-starch could maintain normoglycemia and improve the disease condition. Mutation analysis for patient 1 was normal. Patient 2 had a compound heterozygote: a C-to-T transition at nucleotide 1294 (come from father, 1294C > T, L 298 L) in exon 8 and a G-to-T transition at nucleotide 4747 (from mother, 4747G > T, E1450X) in exon 34. Patient 3 had a compound heterozygote: a C-to-T transition at nucleotide 1294 (from father, 1294C > T, L 298 L) in exon 8 and a G-to-A transition at nucleotide -10 (from mother, -10G > A) in exon 3. Patient 4 was a homozygote: an insertion of a nucleotide CT into position +65 in exon 35 (4664 ins CT). Patient 5 had a compound heterozygote: a 8 bp deletion at nucleotide 2341 (from father, 2341delGCCATAGA, frameshift mutation) in exon 16 and a G-to-A transition at nucleotide 1559 (from mother, 1559G > A, R 387 Q) in exon 10. Patient 6 had a compound heterozygote: a T-to-G transition at nucleotide 1686 (from mother, 1686T > G, Y429 X) in exon 12 and a G-to-A transition at nucleotide 3742 (from father, 3742G > A, G 1115 R) in exon 26.

CONCLUSIONGSD-III patients have variable phenotypic characteristics. Administration of raw-corn-starch can effectively improve the disease outcome. We identified 8 new mutations on AGL gene through nucleotide sequence analysis.

Child ; Child, Preschool ; Female ; Glycogen Debranching Enzyme System ; genetics ; Glycogen Storage Disease Type III ; genetics ; therapy ; Humans ; Male ; Mutation

BACKGROUNDHemodynamic evaluation is crucial for the management of patients with pulmonary hypertention. Clinicians often prefer a rapid and non-invasive method. This study aimed to examine the feasibility of transthoracic echocardiography for the measurements of hemodynamic parameters in patients with pulmonary hypertension.

METHODSA prospective single-center study was conducted among 42 patients with pulmonary hypertension caused by different diseases. Transthoracic echocardiography and right-heart catheterization were performed within 24 hours. Pulmonary artery systolic, diastolic and mean pressure (PASP, PADP and PAMP), cardiac output (CO), and pulmonary capillary wedge pressure (PCWP) were measured by both methods. A linear correlation and a Bland-Altman analysis were performed to compare the two groups of hemodynamic parameters.

RESULTSA good correlation was found between invasive and non-invasive measurements for PASP (r = 0.96), PADP (r = 0.85), PAMP (r = 0.88), CO (r = 0.82), and PCWP (r = 0.81). Further agreement analysis done by the Bland-Altman method showed that bias and a 95% confidence interval for PASP, PADP, and CO were clinically acceptable while great discrepancies existed for PAMP and PCWP.

CONCLUSIONSThe non-invasive measurements by PASP, PADP, and CO in patients with pulmonary hypertension correlate well with the invasive determinations. Transthoracic echocardiography (TTE) was inappropriate for estimating PCWP and PAMP.

Adolescent ; Adult ; Cardiac Catheterization ; Cardiac Output ; Echocardiography ; Female ; Hemodynamics ; Humans ; Hypertension, Pulmonary ; physiopathology ; Male ; Middle Aged ; Prospective Studies ; Pulmonary Wedge Pressure

OBJECTIVES: To investigate the expression of IL-25,IL-33 and EOS in children with allergic rhinitis (AR). METHODS: Ninety-four AR children receiving immunotherapy and 23 healthy people were concluded in the study. The serum levels of IL-25 and IL-33 were detected by Enzyme-linked Immunosorbent Assay (ELISA), and a count of EOS were measured. RESULTS: The serum levels of IL-25 and IL-33 in the mild group were higher than control group (<0.05). The count of EOS showed no difference between the mild group and the control group (>0.05). The serum levels of IL-25 and IL-33 in the severe group were higher than those in mild group (<0.05). The serum levels of IL-25 and IL-33 in the severe group were higher than control group (<0.05). The count of EOS in the severe group were higher than those in mild group (<0.05). The count of EOS in the severe group were higher than those in control group (<0.05). Spearman test showed the serum levels of IL-25 in the children with AR patients have positive correlation with the serum levels of IL-33 (<0.05, =0.238). CONCLUSIONS Expression of IL-25 levels, IL-33 levels and the count of EOS in patients with AR are enhanced, which shows that IL-25, IL-33 and the count of EOS are involved in the AR. If we can understand the mechanism of them, it will profound implications for treatment.
Child ; Enzyme-Linked Immunosorbent Assay ; Eosinophils ; Humans ; Immunotherapy ; Interleukin-17 ; metabolism ; Interleukin-33 ; metabolism ; Rhinitis, Allergic ; immunology ; therapy

OBJECTIVESTo investigate HEV infection in swine and the genotype relationship between swine and human HEV.

METHODSAnti-HEV IgG antibody was detected in the sera of swine using enzyme linked immunoassay (EIA), and HEV RNA was amplified by reverse transcription nested polymerase chain reaction (RT-nPCR). The Vector NTI Suite 7 and TreeView softwares were used for nucleotide sequences phylogenetic analysis of HEV isolated from human and swine.

RESULTSThe anti-HEV IgG positive rate was 16.67% (18/108). Among the 18 anti-HEV IgG positive sera, 2 sequences (11.11%, called S18 and S43, respectively) of HEV ORF1 (102-387bp) were amplified, with the identity of 99% between them. They had 76% to 77%, 78%, 76% to 79%, 85% to 86%, 77%, 80%, 79% and 75% - 79% homology at the nucleotide level with human HEV genotypes 1 to 8, respectively. One (S18) of them was also amplified out in ORF2 region (5,994-6 297bp) and showed 76% to 78%, 74%, 74% to 77%, and 85% to 94% identity with human HEV genotypes 1 to 4 at the nucleotide level, respectively.

CONCLUSIONHEV sequences isolated from swine belong to human HEV genotype 4.

Animals ; Antibodies, Viral ; blood ; Base Sequence ; Hepatitis E ; transmission ; veterinary ; Hepatitis E virus ; classification ; genetics ; Immunoglobulin G ; blood ; Molecular Sequence Data ; RNA, Viral ; chemistry ; Reverse Transcriptase Polymerase Chain Reaction ; Swine ; Swine Diseases ; virology

Animals ; China ; epidemiology ; Disease Reservoirs ; Hepatitis E ; epidemiology ; transmission ; Hepatitis E virus ; genetics ; isolation & purification ; Humans ; Rodentia ; virology ; Swine ; virology

Objective: To investigate the localization methods of supratrochlear artery (STA) and supraorbital artery (SOA), and to explore the clinical benefit of locating nerve via accompanying vascular localization in combined transfrontal and intranasal endoscopic approaches. Methods: From June 2019 to May 2021, 14 patients, including 11 males and 3 females, aging from 18 to 69 years old, were underwent frontal sinus surgery through the combined transfrontal and intranasal endoscopic approaches in the Department of Otorhinolaryngology Head and Neck Surgery of the Third Affiliated Hospital of Sun Yat-sen University. Before the surgery, localization of STA and SOA was determined by color doppler flow imaging (CDFI), computerized topographic angiography (CTA) and contrast enhanced magnetic resonance angiography (CE-MRA) respectively, and the distances between STA and SOA from facial midline were measured on 28 eyebrows. The position of external incision was determined according to the preoperative localization of STA and SOA. The examination time, cost and postoperative complications of the three methods were recorded. The accuracy of localization at 14 sides was verified by the surgery. GraphPad Prism 8.3 software was used for statistical analysis. Results: STA and SOA could be located by CDFI, CTA and CE-MRA. There was no significant difference in the measurement of the distance between STA and SOA from the facial midline among 3 methods (all P>0.05). Determining the position of external incision according to the localization of STA and SOA could protect both the blood vessels and accompanying nerves. No postoperative complications such as numbness of the forehead skin occurred. The measurement time of CDFI, CTA and CE-MRA was 22.50 (15.75, 30.00), 30.00 (28.00, 34.25) and 48.00 (44.00, 52.75) min (M (Q₁, Q₃)), respectively (all P<0.05). CDFI incurred the lowest costs and took the shortest time. Conclusions: CDFI is an efficient and economic localization method. The localization of STA and SOA facilitates the precise selection of the position of external incision, protects the accompanying nerve and reduces postoperative complications.
Adolescent ; Adult ; Aged ; Angiography ; Arteries ; Endoscopy ; Female ; Humans ; Male ; Middle Aged ; Postoperative Complications ; Young Adult

Adult ; Female ; Humans ; Hypertension, Pulmonary ; genetics ; Lupus Erythematosus, Systemic ; genetics ; Male ; Nerve Tissue Proteins ; genetics ; Polymorphism, Single Nucleotide

As a recognized rare and highly fatal disease, hereditary angioedema (HAE) is difficult to diagnose and characterized by recurrent edema involving the head, limbs, genitals and larynx, etc. Diagnosis of HAE is not difficult. However, low incidence and lack of clinical characteristics lead to difficulty of doctors on timely diagnosis and correct intervention for HAE patients. Therefore, it is crucial to improve the awareness of this disease and prevent its recurrence. for HAE patients. In view of absent cognition of doctors and the general public on HAE, patients often suffer from sudden death or become disabled due to laryngeal edema which cannot be treated in time. Thus, based on the Internet mobile terminal platform, the team set up an all-day rapid emergency response system which is provided for HAE patients by setting up "one-click help". The aim is to offer optimization on overall management of HAE and designed the intelligent follow-up management to provide timely assistance and specialized suggestion for patients with acute attacks.
Humans ; Angioedemas, Hereditary/drug therapy*

As a recognized rare and highly fatal disease, hereditary angioedema (HAE) is difficult to diagnose and characterized by recurrent edema involving the head, limbs, genitals and larynx, etc. Diagnosis of HAE is not difficult. However, low incidence and lack of clinical characteristics lead to difficulty of doctors on timely diagnosis and correct intervention for HAE patients. Therefore, it is crucial to improve the awareness of this disease and prevent its recurrence. for HAE patients. In view of absent cognition of doctors and the general public on HAE, patients often suffer from sudden death or become disabled due to laryngeal edema which cannot be treated in time. Thus, based on the Internet mobile terminal platform, the team set up an all-day rapid emergency response system which is provided for HAE patients by setting up "one-click help". The aim is to offer optimization on overall management of HAE and designed the intelligent follow-up management to provide timely assistance and specialized suggestion for patients with acute attacks.
Humans ; Angioedemas, Hereditary/drug therapy*

Allergic diseases affect about 40% of the world's population. Environmental factors are important in the occurrence and development of allergic diseases. Dust mites are one of the most important allergens in the indoor environment. The World Health Organization proposes the "four-in-one, combination of prevention and treatment" treatment principle for allergic diseases, in which environmental control to avoid or reduce allergens is the first choice for treatment. Modern people spend much more time at home (including sleeping) than outdoors, and the control of the home environment is particularly critical. This practice introduces the hypoallergenic home visit program, which including home environment assessment, environmental and behavioral intervention guidance, and common household hypoallergenic supplies and service guidance for the patient's home environment. The real-time semi-quantitative testing of dust mite allergens, qualitative assessments of other indoor allergens, record of patients' household items and lifestyle, and precise, individualized patient prevention and control education will be conducted. The hypoallergenic home visit program improves the doctors' diagnosis and treatment data dimension, and becomes a patient management tool for doctors outside the hospital. It also helps patients continue to scientifically avoid allergens and irritants in the environment, effectively build a hypoallergenic home environment, reduce exposure to allergens in the home environment, and achieve the goal of combining the prevention and treatment of allergic diseases.
Humans ; Hospitals ; Life Style ; Sleep