1.A case report of multiple myeloma complicated with primary systemic light amyloidosis peripheral neuropa-thy
Chunjia WU ; Hanzhe ZHANG ; Donghui SHEN ; Haifeng WANG ; Weijie ZHANG ; Xin WANG
Chinese Journal of Nervous and Mental Diseases 2023;49(9):539-543
This paper reports a case of multiple myeloma complicated with Primary systemic light chain amyloidosis peripheral neuropathy.Patient was a male,60 years old with subacute onset of peripheral neuropathy.Patient had previous history of hypertension,coronary heart disease and stable angina pectoris.His urine routine examination 2 months ago showed urine protein(+++).The first clinical symptom with peripheral neuropathy characterized by progressive numbness and weakness of both lower limbs.The diagnosis was made after completing electromyography,lumbar puncture,renal puncture,bone puncture and other related examinations,and relevant treatment was given.As a rare disease of nervous system,the incidence rate is low.Early diagnosis is an important step to reduce mortality and improve prognosis.However,the disease is easily misdiagnosed as diabetic peripheral neuropathy and chronic inflammatory demyelinating polyradiculoneuropathy,thereby delaying diagnosis and treatment.
2.X-linked dominant protoporphyria:report of a pedigree and detection of ALAS2 gene mutations
Tao WANG ; Qi DONG ; Chenchen XU ; Xiping ZHOU ; Yuehua LIU ; Hongwei WANG ; Qiuning SUN ; Hongzhong JIN ; Heyi ZHENG ; Yunshu OUYANG ; Chunjia LI ; Rongrong CHEN ; Hongbing ZHANG ; Yaping LIU ; Yongwei WANG ; Guangjun NIE
Chinese Journal of Dermatology 2016;49(10):702-705
Objective To report a pedigree with X?linked dominant protoporphyria(XLDPP), and to detect 5?aminolevulinic acid synthetase 2(ALAS2)gene mutations in this pedigree. Methods A clinical investigation was performed in a pedigree with XLDPP, and relevant data were collected from family members. A next?generation sequencing method was applied to screen possible mutation sites, and Sanger sequencing was performed to determine pathogenic gene mutations. Dermoscopy was conducted to observe skin lesions in the patients with XLDPP, and the Fotofinder system and very high frequency (VHF) ultrasound system were utilized to assess the severity of photodamage. Liver and gallbladder ultrasonography as well as blood examination were performed for all the family members. Results A deletion mutation, c.1706?1709ΔAGTG, was detected in the ALAS2 gene on the X chromosomes of all the patients in this family, which led to replacement or loss of 19-20 C?terminal residues through transcriptional frameshifting, and eventually caused an increase in ALAS2 activity. In the patients with XLDPP, skin photodamage was relatively severe;protoporphyrin?induced hepatobiliary damage was observed and aggravated with age;anemia and iron deficiency occurred sometimes. Conclusion The deletion mutation c.1706?1709ΔAGTG of the ALAS2 gene may be the underlying cause of XLDPP in this pedigree.
3.Recent advance in role of nicotinamide mononucleotide in central nervous system diseases
Chunjia ZHANG ; Yan LI ; Yan YU ; Fan BAI ; Yingli JING ; Degang YANG ; Feng GAO ; Jianjun LI
Chinese Journal of Neuromedicine 2023;22(9):947-952
Nicotinamide mononucleotide (NMN) is an important precursor in conversing nicotinamide adenine dinucleotide (NAD +) in the body. By elevating NAD + level in the body, NMN enhances the hydrogen transfer function of NAD + in biological processes, promotes the synthesis of proteins and polysaccharides, improves substance transportation and regulatory efficiency, and enhances metabolic functions. Specifically, in central nervous system disease, NMN exerts neuroprotective effect through antioxidation, anti-inflammation, mitochondrial protection, and prevention of neuronal and axonal degeneration. This review focuses on the therapeutic role of NMN in common central nervous system diseases and their neuroprotective mechanisms, so as to further understand the role of NMN in central nervous system diseases, and provide references for predicting therapeutic targets and screening therapeutic drugs for central nervous system diseases.
4.Related factors and prediction model for neurological outcome of dance-associated pediatric spinal cord injury without radiographic abnormality
Shuang GUO ; Yongqi XIE ; Liang ZHANG ; Chunjia ZHANG ; Run PENG ; Degang YANG ; Mingliang YANG
Chinese Journal of Rehabilitation Theory and Practice 2023;29(5):582-589
ObjectiveTo investigate the neurological outcome of children with dance-associated spinal cord injury without radiographic abnormality (SCIWORA) and explore its related factors and predictive model. MethodsFrom July, 2012 to January, 2022, 75 children with dance-associated SCIWORA hospitalized in Beijing Bo'ai Hospital were divided into improved group (n = 14) and non-improved group (n = 61) according to the American Spinal Injury Association Impairment Scale (AIS) grade a year later, and the related factors were analyzed. ResultsAll patients were girls aged four to ten years. Most of them were complete spinal cord injuries (52/75, 69%). The time of injury to rehabilitation (OR = 0.926, P = 0.046, 95%CI 0.858 to 0.999), the existing tendon reflex (OR = 46.915,P = 0.012, 95%CI 2.333 to 943.616) and muscle tension (OR = 8.932,P = 0.044,95%CI 1.063~75.067) were correlated with the AIS grade improvement. The combination of time of injury to rehabilitation, tendon reflex and muscle tone existing may predict the improvement of AIS (AUC = 0.953, P < 0.001,95%CI 0.878 to 0.989), the sensitivity and specificity were 100% and 83.61%, respectively. ConclusionThe neurological outcome of children with dance-associated SCIWORA is poor. Rehabilitation training as soon as possible is beneficial to the neurological recovery. Tendon reflexe and muscle tone existing at admission are closely related to improvement of neurological outcome, which could be used as potential indicators.