OBJECTIVETo explore the effect of prophylaxis on youth's chronic mountain sickness(CMS) who moved to an altitude of above 5 000 meters by long-term oxygen therapy (LTOT).

METHODSNinety-six male youth stationed at 5 070 m, 5 200 m and 5 380 m took oxygen continuously by nasal cannula (LTOT group) every body per day. One year later, epidemiological survey were carried out according to the international CMS diagnostic criteria consist of examining right ventricle end-diastolic dimension (RVED), right ventricular anterior wall (RVAW), right ventricular outflow tract (RVOT), main pulmonary artery (MPA), left ventricular end systolic diameter (LVSD) by ultrasonic diagnostic apparatus, and blood test of alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyl transpeptidase (gamma-GT), creatine kinase (CK), lactate dehydrogenase (LDH), superoxide dismutase (SOD), malondialdehyde (MDA), nitric oxide (NO), nitric-oxide synthase (NOS) blood oxygen saturation (SaQ2). Then, they were compared with 91 males in the same group stationed at the same altitude (without any interventions, control group).

RESULTS(1) The epidemiological survey showed that, SaO2 were increased significantly (P < 0.05) and the prevalence rate of CMS were decreased compared with that of control group (P < 0.05). (2) Echocardiography showed that SOD, NO, NOS were increased (P < 0.05 or 0.01) and LVSD, MPA had no significant difference compared with that of control group (P > 0.05). (3) Biochemical index showed that, SOD, NO, NOS were increased (P < 0.05 or 0.01), MDA, ALT, AST, LDH were decreased (P < 0.05 or 0.01) and gamma-GT, CK had no significant difference compared with that of the control group.

CONCLUSIONAt high altitude, LTOT can reduce lipid peroxidation, improve the important organ injuries caused by hypoxia and protect the mitochondria respiratory function and play an important role on the prevention of chronic mountain sickness.

Adolescent ; Adult ; Altitude Sickness ; blood ; prevention & control ; Humans ; Male ; Oxygen ; administration & dosage ; therapeutic use ; Oxygen Inhalation Therapy ; Young Adult

Objective To investigate the clinical features and mechanism and feasibility of plasma exchange (PE) in treating systemic lupus erythematosus (SLE) complicated with acute pancreatitis (AP). Methods A retrospective analysis of SLE associated with AP was done based on the HIS in Tongji Hospital. Totally 24 SLEAP patients were admitted to Tongji hospital from March 2006 to May 2014. Patientsˊ serum amylase, lipase and interleukin (IL)-6 concentration were measured before and after plasma exchange. According to different therapy strategy, patients were divided into two groups. Fifteen patients treated with plasma exchange combination with glucocorticosteroid (GC) were classified as Group A, the other 9 patients who were treated with GC only were classified as group B. At baseline and after treatment, the serum lipid concentration, average daily glucocorticosteroid dosage between group A and B were compared with ANOVA and serum IL-6 concentration between roup A and B were compared with Wilcoxon rank test. Results SLEDAI score in group A patients at baseline (16 ±5) was no statistically different from that in group B (18 ±4) (t=1.31, P=0.320). Average daily GC dosage in group A 31.0 (20.50, 30.08)mg/d was significantly less than that in group B 47.85 (45.58, 59.23) mg/d (Z=35.50, P= 0.002). Serum IL-6 levels in group A and B at baseline was not significantly different 13.14 (11.12,16.57) mg/L vs 14.63 (11.37, 16.37) mg/L (Z=12.20, P=0.300), after 2 weeks treatment, IL-6 level, which was 9.16 (7.93, 10.75) mg/L, decreased significantly in group A while it didnˊt show tendency of decrease in group B, which was 13.62(9.29, 17.63) mg/L (Z=28.50, P=0.039). Serum lipid concentration after 2 weeks therapy in Group A [TC=(5.02 ±0.53) mmol/L, TG=(1.46 ±0.44) mmol/L] decreased significantly compared to baseline [TC=(6.11±0.50) mmol/L, TG=(2.14±0.65) mmol/L] (F=4.46, P=0.010; F=6.09, P=0.002), while similar tendency wasnˊt observed in group B (F=1.57, P>0.05). Conclusion PE combined with GC could lower serum IL-6 levels, reduce the amount of GC and lower serum lipid to improve prognosis. Therefore it might be a safe and effective way and is worthy of continuing to explore its feasibility.

OBJECTIVE: To explore the genetic etiology of a child with D bifunctional protein deficiency (DBPD) born to a consanguineous pedigree. METHODS: A child with DBPD who was admitted to the First Affiliated Hospital of Hainan Medical College on January 6, 2022 due to hypotonia and global developmental delay was selected as the study subject. Clinical data of her pedigree members were collected. Peripheral blood samples of the child, her parents and elder sisters were collected and subjected to whole exome sequencing. Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 2-year-and-9-month-old female, had featured hypotonia, growth retardation, unstable head lift, and sensorineural deafness. Serum long-chain fatty acids were elevated, and auditory brainstem evoked potentials had failed to elicit V waves in both ears with 90 dBnHL stimulation. Brain MRI revealed thinning of corpus callosum and white matter hypoplasia. The child's parents were secondary cousins. Their elder daughter had a normal phenotype and no clinical symptoms related to DBPD. Elder son had frequent convulsions, hypotonia and feeding difficulties after birth, and had died one and a half month later. Genetic testing revealed that the child had harbored homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene, for which both of her parents and elder sisters were carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.483G>T (p.Gln161His) was rated as a pathogenic variant (PM1+PM2_Supporting+PP1+PP3+PP4). CONCLUSION The homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene caused by the consanguineous marriage probably underlay the DBPD in this child.
Female ; Humans ; Pedigree ; Muscle Hypotonia ; Hearing Loss, Sensorineural ; Protein Deficiency ; Mutation

The coronavirus disease 2019 (COVID-19) pandemic is caused by infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which is spread primary via respiratory droplets and infects the lungs. Currently widely used cell lines and animals are unable to accurately mimic human physiological conditions because of the abnormal status of cell lines (transformed or cancer cells) and species differences between animals and humans. Organoids are stem cell-derived self-organized three-dimensional culture in vitro and model the physiological conditions of natural organs. Here we showed that SARS-CoV-2 infected and extensively replicated in human embryonic stem cells (hESCs)-derived lung organoids, including airway and alveolar organoids which covered the complete infection and spread route for SARS-CoV-2 within lungs. The infected cells were ciliated, club, and alveolar type 2 (AT2) cells, which were sequentially located from the proximal to the distal airway and terminal alveoli, respectively. Additionally, RNA-seq revealed early cell response to virus infection including an unexpected downregulation of the metabolic processes, especially lipid metabolism, in addition to the well-known upregulation of immune response. Further, Remdesivir and a human neutralizing antibody potently inhibited SARS-CoV-2 replication in lung organoids. Therefore, human lung organoids can serve as a pathophysiological model to investigate the underlying mechanism of SARS-CoV-2 infection and to discover and test therapeutic drugs for COVID-19.
Adenosine Monophosphate/therapeutic use* ; Alanine/therapeutic use* ; Alveolar Epithelial Cells/virology* ; Antibodies, Neutralizing/therapeutic use* ; COVID-19/virology* ; Down-Regulation ; Drug Discovery ; Human Embryonic Stem Cells/metabolism* ; Humans ; Immunity ; Lipid Metabolism ; Lung/virology* ; RNA, Viral/metabolism* ; SARS-CoV-2/physiology* ; Virus Replication/drug effects*