Enzyme Replacement Therapy in the Treatment of Fabry Disease / 罕见病研究

Fabry disease is an X-linked inherited lysosomal storage disease caused by the mutation of GLA gene that encodes α-galactosidase A (α-Gal A). GLA gene mutation causes the decline or deficiency in the activity of α-Gal A, leading to the accumulation of its substrates in the lysosomes of multiple organs and tissue that causes systemic damage and threatens the life of patients. Enzyme replacement therapy (ERT) is the standard of care for Fabry disease. ERT slows or prevents the progression of organ damage, effectively improving heart, brain, kidney functions and significantly improves quality of life. At present, there are two main ERT drugs, agalsidase alpha and agalsidase beta, which have the same amino acid sequence and different N-terminal sugars, and are used for the treatment of Fabry disease. In this paper, the efficacy and safety of ERT in the treatment of Fabry disease were summarized by reviewing the relevant literature at home and abroad and combining the results of some cases treated in Department of Nephrology, Provincial Hospital affiliated to Shandong First Medical University. Previous literature has shown that enzyme replacement therapy is the most important specific treatment for Fabry disease, which has a protective effect on important organs such as kidney, heart, and nervous system.

Clinical features and treatment effect of enzyme replacement therapy in patients with Fabry disease / 中华肾脏病杂志

Objective:To analyze the clinical features, efficacy and adverse reactions of enzyme replacement therapy (ERT) in patients with Fabry disease (FD).Methods:The clinical data of FD patients in Shandong Provincial Hospital Affiliated to Shandong First Medical University from June 2020 to September 2021 were collected and the clinical manifestations, laboratory examinations, gene mutations, and efficacy and adverse reactions of ERT were retrospectively analyzed.Results:Sixteen patients with FD were enrolled in this study, including 12 typical cases and 4 late-onset cases, with varied clinical manifestations. Compared with late-onset patients, typical patients had younger age of onset ( P=0.001), lower activity of plasma alpha-galactosidase A ( P=0.016) and higher globotriaosylsphingosine (lyso-GL-3, P=0.030). The typical patients [(13.50±10.08) years] and late-onset patients [(10.75±7.27) years] both had long delayed time of diagnosis. In 7 patients who underwent regular 6 ERT, lyso-GL-3 was significantly lower than before ( P=0.018); after 6 treatments, the pain of 5 patients was relieved than before. Three patients with irregular ERT had aggravated symptoms, and 1 case had stroke recurrence during regular treatment. No serious adverse reaction occurred with the use of agalsidase β and α. Conclusions:ERT can effectively reduce the level of plasma lyso-GL-3 in patients with FD and relieve symptoms, and has good safety. But the efficacy of ERT is dose-dependent, and clinical benefits require long-term observation and follow-up. Patients treated with ERT should have good compliance and can receive long-term regular treatment.

Serotonin Modulates the Correlations between Obsessive-compulsive Trait and Heart Rate Variability in Normal Healthy Subjects: A SPECT Study with 123 IADAM and Heart Rate Variability Measurement

Objective@#The impact of serotonergic system on obsessive-compulsive disorder (OCD) is well studied. However, the correlation between OC presentations and autonomic nervous system (ANS) is still unclear. Furthermore, whether the correlation might be modulated by serotonin is also uncertain. @*Methods@#We recruited eighty-nine healthy subjects. Serotonin transporter (SERT) availability by [ 123 I]ADAM and heart rate variability (HRV) tests were measured. Symptoms checklist-90 was measured for the OC presentations. The interaction between HRV and SERT availability were calculated and the correlation between HRV and OC symptoms were analyzed after stratified SERT level into two groups, split at medium. @*Results@#The interactions were significant in the factors of low frequency (LF), high frequency (HF), and root mean square of successive differences (RMSSD). Furthermore, the significantly negative correlations between OC symptoms and the above HRV indexes existed only in subjects with higher SERT availability. @*Conclusion@#OC symptoms might be correlated with ANS regulations in subjects with higher SERT availability.

Experience of 2003 SARS has a negative psychological impact on healthcare workers in the COVID-19 pandemic: a cross-sectional study

ABSTRACT BACKGROUND: The COVID-19 pandemic has instilled fear and stress among healthcare workers. OBJECTIVES: The aim of this study was to assess work stress and associated factors among healthcare workers during the COVID-19 outbreak and to evaluate whether prior experience of treating severe acute respiratory syndrome (SARS) had a positive or negative influence on healthcare workers' stress levels during the COVID-19 pandemic. DESIGN AND SETTING: Cross-sectional survey in a tertiary hospital in Kaohsiung City, in southern Taiwan. METHODS: The survey was conducted using an online self-administered questionnaire to measure the stress levels among healthcare workers from March 20 to April 20, 2020. The stress scales were divided into four subscales: worry of social isolation; discomfort caused by the protective equipment; difficulties and anxiety regarding infection control; and workload of caring for patients. RESULTS: The total stress scores were significantly higher among healthcare workers who were aged 41 or above, female, married, parents and nurses. Those with experience of treating SARS reported having significantly higher stress scores on the subscale measuring the discomfort caused by protective equipment and the workload of caring for patients. During the COVID-19 outbreak, frontline healthcare workers with experience of treating SARS indicated having higher stress levels regarding the workload of caring for patients than did non-frontline healthcare workers with no experience of treating SARS. CONCLUSIONS: Work experience from dealing with the 2003 SARS virus may have had a negative psychological impact on healthcare workers amidst the COVID-19 outbreak.

Strain Ratio of Ultrasound Elastography for the Evaluation of Tendon Elasticity

No abstract available.

Clinical characteristics of renal tubular acidosis in adults and children / 中华肾脏病杂志

Objective To view and compare the clinical characteristics of renal tubular acidosis in adults and children.Methods Clinical data of patients with renal tubular acidosis diagnosed by Shandong Provincial Hospital affiliated to Shandong University from Jan 1991 to Sep 2017 were reviewed.The difference and consistency in clinical characteristics of renal tubular acidosis between adults and children were analyzed.Results Data from 206 adults and 60 children were analyzed.89.81％ cases in adults were secondary to other diseases,mainly primary Sjogren's syndrome.Most children patients (81.67％) were idiopathic,others largely originated from inherited metabolic diseases.The most common subtype of both was distal renal tubular acidosis.Proximal renal tubular acidosis was easier to be found in idiopathic renal tubular diseases of children.Chief complaints or starting symptoms were mainly composed of polydipsia with polyuria (41.4％) and fatigue (35.3％).Children were typical of growth retardation,rickets and digestive symptoms.The rate of missed diagnosis and misdiagnosis was 41.4 percent.Routine therapy consisted of healing metabolic acidosis and electrolyte disorders,treating underlying diseases and preventing complications.The majority of patients (95.5％) improved after treatments.Conclusions Renal tubular acidosis possesses various underlying diseases,diverse clinical manifestation and high rate of misdiagnosis.Given the high incident of secondary types,investigation of underlying disease,especially autoimmune diseases such as Sjogren's syndrome,is of great importance in adults.Most children patients suffer from primary renal tubular acidosis.Attention should be paid to them in order to reduce the rate of misdiagnosis and teratogenicity.

Effect of continuous venovenous haemodiafiltration on the clearances of various solutes in multiple organ dysfunction syndrome dogs / 中华肾脏病杂志

Objective To study the effect of continuous venovenous haemodiafiltration (CVVHDF) on the clearances of various solutes in multiple organ dysfunction syndrome (MODS)dogs.Methods Dogs were subjected to hemorrhagic shock plus resuscitation and endotoxemia to set up MODS model,then they were randomly divided into 2 groups: MODS group (M group)and MODS+CVVHDF group (M+C group).A PRISMA pre-dilution system with AN-69 filter was applied.Solute clearance of nitric oxide(NO),urea nitrogen(UN),creatinine (Cr),interleukin-6 (IL-6),interleukin-10 (IL-10),tumor necrosis factor-α (TNF-α) and endotoxin (LP) was determined with same dialysate and ultrafiltrate volume during CVVHDF.The clearance of various solutes (Kd) was calculated by the concentration of the cleared solutes in effluents (E) based on the formula Kd=(ExQE)/P.Results Clearances of NO,UN,Cr were greater than those of IL-6,IL-10,TNF-α,LP during the treatment of CVVHDF.Conclusion CVVHDF could effectively reduce the levels of various solutes in the development of MODS by convection and absorption.

THE ARTERIES OF THE HUMAN THORACIC VERTEBRAE / 解剖学报

1)The arteries of the human thoracic vertebrae are studied on 14 cadavers(1 fetus,11 children and 2 adults)by dissection,clearing,and radiography.Their origins, branches,distributions,and their relations to each other on the external surfaces of the vertebrae as well as their numbers,points of entrance,and intravertebral distributions are recorded and studied. 2)All the vertebrae obtain their blood supply,directly or indirectly,from the neighbouring intercostal arteries.In addition,the upper 2 vertebrae receive also the descending branches from the inferior thyroid artery,the subclavian artery,the costo- cervical trunk or the vertebral artery,among which the branches deriving from the inferior thyroid artery occur more frequently.Both the arteries reaching the internal and external surfaces of the vertebral bodies and those distributed to the internal and external surfaces of the vertebral arches divide into ascending and descending branches(the main trunk of the intercostal artery gives rise to a number of upper and lower slender branches over the antero-lateral surfaces of the vertebral body)to supply the adjacent vertebrae.On each side(right and left)the neighbouring ascending and descending branches anastomose longitudinally,and the arteries of the same name on both sides join to form transverse anastomosis. 3)The nutrient arteries of each vertebral body form 3 groups,two of which enter the body through its right and left antero-lateral aspects respectively.The 3rd group pierces the central portion of its posterior aspect.The numbers of the arteries penetrating the antero-lateral aspect of the body vary in different ages;5—6 branches on either side of the body in 4 month fetus,reduced to 3 branches in 1—3 year old children.On the dorsal aspect,the upper ten bodies receive 2 branches each;and the lower twos,3—4 branches.In the spongy bone of the vertebral body,all the arteries of the 3 groups converge and anastomose to each other. 4)The end arteries occur only in the developing cartilaginous regions of the verte- brae.As the ossification proceeds the anastomosis develops in the spongy bone. 5)It is usually found that a nutrient artery enters the vertebral arch from behind through its superio-lateral aspect or near the base of the upper articular process of the vertebra.