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Objective:To investigate the clinical, skeletal muscle pathological, and genetic characteristics of fatal infantile hypertonic myofibrillar myopathy (FIHMM).Methods:The clinical manifestations, laboratory assessments data and gene sequencing results of 10 patients diagnosed with FIHMM in Shenzhen Children′s Hospital from February 2017 to April 2021 were retrospectively analyzed.Magnetic resonance imaging (MRI) of both musculoskeletal system and the brain, and electromyogram (EMG) were performed in 3 cases, while muscle biopsy was performed in 2 cases.Results:Among these 10 cases, 1 case was from Northeast China and 1 case from East China, while the rest 8 cases were from South China.Eight of the 10 patients were male, and the other 2 cases were female.They were all born normal and not related to each other.The age of onset varied from 2 to 12 months.The main clinical manifestations for all the patients were progressive rigidity of the rectus abdominis (8 cases), neck muscles (7 cases), rectus abdominis (2 cases) and intercostal muscles (1 case), resulting in respiratory failure.Mildly to moderately elevated serum creatine kinase level was detected (436-5 804 IU/L) (reference range: 24-229 IU/L). Complex repetitive discharges can be seen in the EMG, without any myotonic potential.Muscle fiber degeneration, necrosis, and vacuolar degeneration were noted in the histopathological examination of the vastus lateralis and rectus abdominis.An abnormal red granular deposit was observed in a portion of the field of the modified Gomory Trichrome staining.Immunohistochemistry showed substantial deposition of desmin.Under the electron microscopy, the sarcomere structure of the muscle fibers was seriously disordered, with the destruction of Z-bands and the presence of granular deposits.The whole-exome sequencing identified the same homozygous variation c. 3G>A, p.Met1? of CRYAB gene in all the patients, but heterozygous variation in their parents. Conclusions:Axial muscles involvement, such as rectus abdominis rigidity, is the main clinical characteristic of FIHMM.c.3G>A, p.Met1? mutation in the CRYAB gene is a hotspot mutation in Chinese children.
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Objective To investigate the distribution and drug resistance of pathogens in intensive care unit (ICU) so as to provide scientific basis for antibiotic adoption and the prevention and control of nosocomial infections. Methods The various specimens collected from the patients admitted into ICU in the First People's Hospital of Shunde Affiliated to the South Medical University from January 2007 to December 2014 were used to isolate the pathogens that might cause nosocomial infections and retrospectively analyze their clinical distribution and drug resistance. Kirby-Bauer paper diffusion and minimal inhibitory concentration (MIC) methods were applied to test the drug sensitivity, and according to National Committee for Clinical Laboratory Standards/Clinical and Laboratory Standards Institute (NCCLS/CLSI) standard, the results were identified.Results The sputum was the major specimen source in ICU, accounting for 68.8%, followed by urine (12.4%) and blood (6.8%). All together 557 pathogens in ICU causing nosocomial infections were isolated of which there were 377 gram-negative (G-) bacilli (67.7%), 103 gram-positive (G+) cocci (18.5%), and 77 fungi (13.8%). Among G- bacilli, the top three wereAcinetobacter baumannii (34.5%), Klebsiella pneumonia (17.8%), andPseudomonas aeruginosa (13.0%). Beside carbapenem, the drug resistance rates of Acinetobacterbaumannii to other antibiotics were more than 40%. The main G+ coccus causing nosocomial infection wasSaphylococcus aureus (36.9%) in ICU. The drug resistance rates ofSaphylococcus aureus to penicillin, gentamicin and erythromycin were higher than 50%. In 77 fungus strains,Candida albicans was ranked the first, accounting for 41.6%.Conclusion The main infection site in ICU is primarily respiratory tract, the G- bacilli are the predominate pathogens, and the drug resistance to antibiotics found in this report is serious, so clinically, the antibiotics should be properly used to avoid the occurrence of pathogenic strain with drug tolerance.
ABSTRACT
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease.It is caused by mutations in the gene immunoglobulin μ-binding protein 2 which resides on chromosome 11 q13.3 and encodes the immunoglobulin μ-binding protein 2.This disorder is characterized by degeneration of anterior horn α-motoneurons and manifesting as irreversible diaphragmatic paralysis,respiratory distress associated with progressive symmetrical muscular weakness,distal lower limbs mainly involved,and muscle atrophy between the first 6 weeks and 6 months of life.Overall,SMARD1 is a poor-prognosis disease that artificial ventilation is needed for the whole life.