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1.
Chinese Journal of Orthopaedics ; (12): 131-135, 2023.
Article in Chinese | WPRIM | ID: wpr-993419

ABSTRACT

Femoral head fracture is commonly seen in high-energy injury. However, compression fracture of femoral head is more rare. In most classifications of femoral head fracture, the compression is unusually involved. A case about acute traumatic dislocation of hip joint with compression fracture of femoral head is reported, involving a patient who hurt himself by riding electric bike and hitting the flower bed. He came to our hospital complaining of pain and limited motion of his right leg. The diagnosis of right hip anterior dislocation with the compression fracture of femoral head was confirmed by medical history, physical examination and imaging. Closed reduction of hip dislocation was performed in an emergency. Then we transplanted the bone cartilage from the non-weight-bearing area under the femoral head to the collapsed weight-bearing area, fixing it with countersunk hollow screws, and then the non-weight-bearing donor area was reconstructed with autogenous iliac bone, using surgical hip dislocation. The anatomical structure of the femoral head was therefore restored successfully during the operation. Three months after surgery, the X-ray showed that the femoral head was smooth and the cartilage graft was well fixed. Eight months after surgery, the patient gradually increased the bearing weight from partial to full according to his own condition, and there was no obvious pain in hip. After 24-month follow-up, we found the X-rays showed good reduction and fixation of the femoral head fracture. The CT scan showed no necrosis or cystic degeneration. He got well-active and passive movement in hip joint, and got no pain when walking with burden. For the patient with hip dislocation and compression fracture of femoral head, early joint reduction and non-weight-bearing osteocartilage transplantation can restore the anatomical structure of the weight-bearing area of the femoral head, to avoid traumatic osteoarthritis, and to improve the long-term quality of life of patients.

2.
Chinese Journal of Orthopaedic Trauma ; (12): 491-497, 2023.
Article in Chinese | WPRIM | ID: wpr-992738

ABSTRACT

Objective:To explore the clinical efficacy of a retrograde pubic ramus intramedullary nail (RPRIN) in the treatment of anterior pelvic ring fractures.Methods:A retrospective study was conducted to analyze the 14 patients with anterior pelvic ring fracture who had been treated and followed up at Department of Traumatic Surgery, Tongji Hospital From June 2020 to February 2021. There were 10 males and 4 females with an age of (44.8±12.5) years. By the AO/OTA classification for pelvic fractures, 5 cases were type 61-A, 4 cases 61-B, and 5 cases type 61-C; by the Nakatani classification, 1 case belonged to unilateral zone Ⅰ fracture, 5 cases to unilateral zone Ⅱ fracture, 2 cases to unilateral zone Ⅲ fracture, 3 cases to right zone Ⅱ and left zone Ⅲ fracture, 2 cases to zone Ⅲ fracture on both left and right sides, and 1 case to zone Ⅱ fracture on both sides. The time from injury to operation was (7.8±1.8) days. All the anterior pelvic ring fractures were fixated with a RPRIN. The time and fluoroscopic frequency for placement of every single RPRIN, quality of fracture reduction, and pelvic function and incidence of postoperative complications at the last follow-up were recorded.Results:A total of 18 RPRINs were placed in the 14 patients. For placement of each RPRIN, the time was (35.9±8.6) min, and the fluoroscopic frequency (22.8±1.9) times. No complications such as infection occurred at any surgical incision after RPRIN placement. According to the Matta scoring, the quality of postoperative fracture reduction was assessed as excellent in 7 cases, as good in 5 cases and as fair in 2 cases. The 14 patients were followed up for (18.1+1.5) months. Their X-ray and CT images of the pelvis at the last follow-up showed that the fractures healed well and the intramedullary nails were placed in the cortical bone of the anterior ring of the pelvis. According to the Majeed scoring at the last follow-up, the pelvic function was assessed as excellent in 10 cases, as good in 3 cases and as fair in 1 case. One patient reported discomfort during squatting 2 months after operation but the symptom improved 3 months later without any special treatment. No patient experienced such complications as displacement or slippage of RPRIN, or pain at the insertion site.Conclusion:RPRIN is effective in the treatment of anterior pelvic ring fractures, showing advantages of small surgical incision, limited intraoperative fluoroscopy and short operation time.

3.
Chinese Journal of Radiological Health ; (6): 293-297, 2023.
Article in Chinese | WPRIM | ID: wpr-978432

ABSTRACT

Objective To comprehensively analyze and understand the status of medical resources of radiological diagnosis and treatment in Suzhou, China, and to provide a basis for the health administration departments to reasonably plan and allocate medical radiation resources. Methods The radiological diagnosis and treatment institutions were registered on the radiation health information platform of Jiangsu province, and information was entered as required. Results There were totally 793 radiological diagnosis and treatment institutions at all levels in Suzhou, including 22 (6.04%) tertiary institutions. There were 2208 radiological diagnosis and treatment equipment. The number of X-ray diagnosis and treatment equipment per million people in Suzhou was 205.40. However, there was no class A large-scale medical equipment. Conclusion Compared with 2005, the numbers of radiological diagnosis and treatment institutions and equipment in Suzhou increased significantly. However, government departments at all levels should strengthen overall regulation and control to improve the rational allocation of high-tech medical resources.

4.
Journal of Biomedical Engineering ; (6): 458-464, 2023.
Article in Chinese | WPRIM | ID: wpr-981563

ABSTRACT

Sleep staging is the basis for solving sleep problems. There's an upper limit for the classification accuracy of sleep staging models based on single-channel electroencephalogram (EEG) data and features. To address this problem, this paper proposed an automatic sleep staging model that mixes deep convolutional neural network (DCNN) and bi-directional long short-term memory network (BiLSTM). The model used DCNN to automatically learn the time-frequency domain features of EEG signals, and used BiLSTM to extract the temporal features between the data, fully exploiting the feature information contained in the data to improve the accuracy of automatic sleep staging. At the same time, noise reduction techniques and adaptive synthetic sampling were used to reduce the impact of signal noise and unbalanced data sets on model performance. In this paper, experiments were conducted using the Sleep-European Data Format Database Expanded and the Shanghai Mental Health Center Sleep Database, and achieved an overall accuracy rate of 86.9% and 88.9% respectively. When compared with the basic network model, all the experimental results outperformed the basic network, further demonstrating the validity of this paper's model, which can provide a reference for the construction of a home sleep monitoring system based on single-channel EEG signals.


Subject(s)
China , Sleep Stages , Sleep , Electroencephalography , Databases, Factual
5.
Journal of Biomedical Engineering ; (6): 257-264, 2023.
Article in Chinese | WPRIM | ID: wpr-981537

ABSTRACT

Macaque is a common animal model in drug safety assessment. Its behavior reflects its health condition before and after drug administration, which can effectively reveal the side effects of drugs. At present, researchers usually rely on artificial methods to observe the behavior of macaque, which cannot achieve uninterrupted 24-hour monitoring. Therefore, it is urgent to develop a system to realize 24-hour observation and recognition of macaque behavior. In order to solve this problem, this paper constructs a video dataset containing nine kinds of macaque behaviors (MBVD-9), and proposes a network called Transformer-augmented SlowFast for macaque behavior recognition (TAS-MBR) based on this dataset. Specifically, the TAS-MBR network converts the red, green and blue (RGB) color mode frame input by its fast branches into residual frames on the basis of SlowFast network and introduces the Transformer module after the convolution operation to obtain sports information more effectively. The results show that the average classification accuracy of TAS-MBR network for macaque behavior is 94.53%, which is significantly improved compared with the original SlowFast network, proving the effectiveness and superiority of the proposed method in macaque behavior recognition. This work provides a new idea for the continuous observation and recognition of the behavior of macaque, and lays the technical foundation for the calculation of monkey behaviors before and after medication in drug safety evaluation.


Subject(s)
Animals , Electric Power Supplies , Macaca , Recognition, Psychology
6.
China Tropical Medicine ; (12): 1184-2022.
Article in Chinese | WPRIM | ID: wpr-972144

ABSTRACT

@#Abstract: Objective To analyze the detection of SARS‑CoV‑2 in household environment and public place environment of Huangpu District, and describe the feature of SARS‑CoV‑2 contamination in the environment exposure to the infected cases, so as to support the control strategies such as disinfection and health communication. Methods The results of RT-PCR test for the environmental samples exposure to the cases infected by SARS‑CoV‑2 during February 1 to March 31 2022 in Huangpu District of Shanghai were collected as the research data. Pearson χ2 was used to test the significance of the differences between positive rates of SARS‑CoV‑2 contamination. Results From February 1 to March 31, household environment samples had a higher positive rate (6.47%, 234/3 618) of SARS‑CoV‑2 contamination while the public place samples had a lower one (1.22%, 47/3 582) in Huangpu District of Shanghai (χ2=141.908, P<0.01). Among the household buildings, the lane houses of old style representing poorer living condition had the highest positive rates (8.31%, 96/1 155) of SARS‑CoV‑2 contamination while the apartments representing better living condition had the lowest (3.59%, 22/612) (F=5.25,P<0.05). Among the samples from household environment, samples regarding sewerage had the highest positive rates (13.30%,58/436) of SARS‑CoV‑2 contamination, while samples regarding the tool of cooking and sweeping had the lowest (3.10%,17/548) (F=9.84,P<0.01). Among the samples from public place environment, samples regarding entertainment tools had the highest positive rates (13.33%, 2/15) of SARS‑CoV‑2 contamination, while samples regarding the tool of cooking and sweeping had the lowest (0.62%, 4/646) (F=4.22,P<0.01). Conclusion In the environment exposure to the SARS‑CoV‑2 infected cases, the disinfection, ventilation and cleaning should be intensified strictly. SARS‑CoV‑2's surviving in sewage environment should be evaluation dynamically. More health communication should be pushed to people of poorer living condition.

7.
Chinese Journal of Experimental Ophthalmology ; (12): 389-394, 2022.
Article in Chinese | WPRIM | ID: wpr-931086

ABSTRACT

With the increase of aging population, the rising demand for cataract surgery, along with the growing demand for post-operative visual quality, the concept of refractive cataract surgery has been put forward, which places more emphasis on the cataract surgical precision.In order to improve the spectacle independence rate, optimize the surgical experience, and obtain the best visual quality, new technologies involving all aspects of cataract surgery are emerging.Ophthalmologists should pay close attention to the updates of biometry measurement, types and design principles of intraocular lens, application of femtosecond technology, surgical assistant system and perioperative management concept, so as to improve the precision and accuracy of cataract surgery.

8.
Chinese Journal of Neurology ; (12): 1161-1168, 2022.
Article in Chinese | WPRIM | ID: wpr-958013

ABSTRACT

In recent years, cerebral small vessel disease (CSVD) has brought great challenges to society and family, and has attracted increasing attention. Early detection and prevention of CSVD is of great significance. Retinal microvasculature is the only terminal blood vessel that can be observed in vivo and can be used as a portal for observation of brain small vessel-related diseases. In this paper, pathophysiology, quantitative and qualitative analysis were used to review the correlation between fundus lesions and CSVD, and further explore the future research direction.

9.
Chinese Journal of Dermatology ; (12): 653-658, 2022.
Article in Chinese | WPRIM | ID: wpr-957718

ABSTRACT

Objective:To analyze gene mutations in and clinical phenotypes of 4 children with recessive dystrophic epidermolysis bullosa (RDEB) .Methods:Clinical data were collected from 4 children with RDEB, and DNA was extracted from peripheral blood samples of the children and their parents. A multi-gene panel targeting congenital epidermolysis bullosa was used for high-throughput sequencing. After identification of causative gene mutations, Sanger sequencing was performed to bidirectionally verify the mutations in the patients and their parents.Results:Genetic testing showed 8 compound heterozygous mutations in the COL7A1 gene in the 4 cases. Case 1 was diagnosed with moderate generalized RDEB, and inherited a paternal mutation c.7828C>T and a maternal mutation c.448G> A; case 2 was also diagnosed with moderate generalized RDEB, and inherited a paternal mutation c.3625_3635del and a maternal mutation c.2726_2728del; case 3 was diagnosed with localized RDEB, carrying a paternal mutation c.682+1G>A and an allelic mutation c.5532+1G>A, but the mutation c.5532+1G>A was not identified in the DNA extracted from the parental peripheral blood samples; case 4 was diagnosed with severe generalized RDEB, and inherited a paternal mutation c.5196delC and a maternal mutation c.500_501insAGGG. Among these mutations, c.2726_2728del and c.5196delC had not been reported previously.Conclusions:All the 4 children with RDEB carried compound heterozygous mutations in the COL7A1 gene, which may be the cause of RDEB. The phenotypes of biallelic frameshift mutation carriers appearred more severe than those of carriers of compound heterozygous mutations composed of biallelic splice site, missense and nonsense, frameshift and amino acid deletion or insertion mutations.

10.
Chinese Journal of Dermatology ; (12): 651-652, 2022.
Article in Chinese | WPRIM | ID: wpr-957717

ABSTRACT

Genodermatology is an important branch of dermatology. The Chinese dermatological community has made many achievements in the field of hereditary skin diseases, and a number of professional research institutions and teams have been internationally known. Under the social and technological background of the new era, the diagnosis and treatment patterns for hereditary dermatoses are expected to be developed according to national regulations and social needs. The author shares some thoughts on this field, in order to facilitate the research in, as well as diagnosis and treatment of hereditary skin diseases.

11.
Chinese Journal of Dermatology ; (12): 739-743, 2022.
Article in Chinese | WPRIM | ID: wpr-957710

ABSTRACT

Recessive dystrophic epidermolysis bullosa (RDEB) is caused by loss-of-function mutations in the COL7A1 gene encoding the α-1 chain of type Ⅶ collagen, leading to reduced or absent expression of basement membrane type Ⅶ collagen (C7) . Currently, there is no effective treatment for this rare disease, and the management is mainly palliative and supportive. Gene therapy is expected to be an effective treatment of RDEB. This review summarizes current strategies of gene therapy in clinical trials for RDEB, as well as their progress, pros and cons, and prospects.

12.
Chinese Journal of Dermatology ; (12): 696-699, 2022.
Article in Chinese | WPRIM | ID: wpr-957709

ABSTRACT

Objective:To analyze pathogenic mutations in a child with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome.Methods:Clinical data were collected from a patient with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, and DNA was extracted from peripheral blood samples from the patient and his parents. High-throughput sequencing was performed in the patient by using a gene panel targeting hereditary skin diseases, aiming to determine sites of disease-causing gene mutations. Then, Sanger sequencing was conducted to bidirectionally verify the mutations in the patient and his parents.Results:The male patient aged 3 years and 9 months, and presented with extensive erythema, scales, erosions as well as repeated infections and erosions of the scalp after birth. Reticulated hyper- and hypopigmented patches and scars left on the trunk and limbs after healing of erosions. Physical examination also showed sparse scalp hair, absence of most eyebrows and eyelashes, cleft palate, dysplastic teeth, dystrophic finger and toe nails, and deformed ears without ankyloblepharon. Genetic testing of the patient showed a novel heterozygous missense mutation c.1790T>A (p.Ile597Asn) in the TP63 gene, which had not been reported previously and was rated as pathogenic according to the American College of Medical Genetics and Genomics guidelines. This mutation was not identified in either of his parents.Conclusion:The novel heterozygous missense mutation c.1790T>A in the TP63 gene probably contributes to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in the patient, which expands genotypic and phenotypic spectrum of this disease.

13.
Chinese Journal of Orthopaedics ; (12): 1358-1365, 2022.
Article in Chinese | WPRIM | ID: wpr-957131

ABSTRACT

Objective:To investigate the clinical therapy of sacral osteotomy combined with lumbopelvic distraction triangular osteosynthesis for malunion and nonunion of type C longitudinally displaced sacral fracture.Methods:A retrospective study of 9 patients with malunion and nonunion of type C pelvic fractures who had been treated with sacral osteotomy combined with triangular osteosynthesis from April 2015 to January 2020 were analyzed. They were 5 men and 4 women, with an average age of 30.67±10.06 (range 14-45 years). AO/OTA classification at initial pelvic fracture, 8 cases were type C1.3 and one was type C3.3. The period from injury to surgery was 12.8±18.92 months (range 3-60 months). The cranial displacement of one side of the pelvis was 3.8±0.57 cm (range 2.5-4.1 cm). Sacral osteotomy and triangular osteosynthesis were used in all nine patients, combined with osteotomy or no osteotomy of the superior and inferior branches of the anterior ring pubis. The degree of longitudinal displacement of one side of the pelvis was assessed by making a vertical line gap between the acetabular apex on both sides and the central axis of the sacrum on the X-ray of the pelvis. The Majeed scoring and visual analogue scale (VAS) were evaluated preoperatively and at the last follow-up to assess the therapeutic effect of the patients.Results:In all 9 patients, except for 1 case of postoperative pelvic residual displacement 1.5 cm (preoperative 3.2 cm difference compared with the healthy side), the other 8 patients had a postoperative bilateral difference of 0.1-0.7 cm. All the patients were followed up for 12.00±9.95 months. At the last follow-up, the Majeed score of pelvic fracture increased from 44.0(33.5, 76.0) points preoperatively to 91.0(80.5, 92.5) points. The difference before and after operation was statistically significant ( Z=2.67, P<0.001), and the gait was significantly improved. And the VAS score for pain decreased from 6.00±1.41 points preoperatively to 1.22±0.97 points. The difference before and after operation was statistically significant ( t=8.73, P<0.001). None had complications like infection, plate broken, screw loosening, iatrogenic nerve or blood vessel injury, etc. Conclusion:Sacral osteotomy combined with lumbopelvic distraction triangular osteosynthesis for the treatment of pelvic malunion and nonunion caused by sacral fracture can correct pelvic deformity, prolong limb length, and reconstruct the stability of pelvic ring with good clinical results.

14.
China Journal of Chinese Materia Medica ; (24): 295-300, 2022.
Article in Chinese | WPRIM | ID: wpr-927970

ABSTRACT

Technical Specifications for Revision of Safety Information in Marketed Chinese Patent Medicine Instructions,a series of group standards,were proposed by Professor ZHANG Bing from Research Center for Pharmacovigilance and Rational Use of Traditional Chinese Medicine,and underwent centralized management by Chinese Association of Chinese Medicine. They were officially released on July 23 and implemented on July 31,2021. The series of group standards consist of six sections,including general principles,adverse drug events,contraindications,precautions,application for special populations,and warnings. The section of general principles is comprised of holistic and programmatic expressions,which explain the general technical requirements for revising the marketed Chinese patent medicine instructions. The other five sections focus on information collection,screening,transformation,and illustration of specific items,forming a standardized revision technical process. This series of standards is the result of multiple rounds of research and the suggestions of more than 200 experts in different professional fields of " medicine-pharmacy-management-law-enterprise" have been gathered therein to reach a consensus. With the purposes of establishing standardized technical specifications for the revision of safety information in the marketed Chinese patent medicine instructions,guiding marketing authorization holders in revising the instructions,filling the gaps in the research of Chinese patent medicine instructions,promoting the deve-lopment of pharmaceutical care and academic research,and encouraging the rational and safe medication of Chinese patent medicine,the series of group standards is of great significance.


Subject(s)
Humans , China , Drug-Related Side Effects and Adverse Reactions , Drugs, Chinese Herbal/adverse effects , Medicine, Chinese Traditional , Nonprescription Drugs/adverse effects , Pharmacovigilance
15.
China Journal of Chinese Materia Medica ; (24): 285-294, 2022.
Article in Chinese | WPRIM | ID: wpr-927969

ABSTRACT

Drug instructions,the statutory and technical documents recording effectiveness and safety information,are an important basis for guiding doctors,pharmacists,and patients to use drugs rationally,and their scientificity,standardization,and accuracy directly affect the medication safety of the public. The sections of adverse drug events,contraindications,precautions,warnings,and application for specific populations in drug instructions directly express safety information and measures for rational use of drugs. In the drug life cycle,marketing authorization holders( MAHs) need to update safety information in the instructions promptly to ensure the safety and effectiveness of clinical drug medication. At present,revising instructions is an important measure to control drug risks. In the drug life cycle,in order to standardize the revision of safety information in the instructions by MAHs and eliminate inexact terms such as " unclear",the Technical Specifications for Revision of Safety Information in Marketed Chinese Patent Medicine Instructions,a series of group standards,have been established under the guidance of Standardization Department,China Association of Chinese Medicine. Therefore,on the basis of the existing rules and regulations,the standardized technical procedures for revising instructions came into being to help clinical safe and rational medication of drugs,and implement the strategy of " Healthy China".


Subject(s)
Humans , China , Drug-Related Side Effects and Adverse Reactions , Drugs, Chinese Herbal/adverse effects , Medicine, Chinese Traditional , Nonprescription Drugs/adverse effects , Reference Standards
16.
JOURNAL OF RARE DISEASES ; (4): 329-333, 2022.
Article in English | WPRIM | ID: wpr-1005023

ABSTRACT

Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary cornification disorder presented with abnormal skin scaling. In this paper, we used next-generation sequencing to determine the variants in a Chinese ARCI patient. We used sanger sequencing to verify bidirectionally the DNA from the proband and her parents. Results showes that two compound heterozygous variants (c.235G > T and c.641delG) in CYP4F22 gene, and both of the mutations are novel. The parents were heterozygous carriers. The two variants are classified as pathogenic variants based on interpretation guidelines. The compound heterozygous mutations in CYP4F22 gene were the causative mutations responsible for ARCI in proband.

17.
JOURNAL OF RARE DISEASES ; (4): 268-277, 2022.
Article in English | WPRIM | ID: wpr-1005014

ABSTRACT

  Objective  To summarize the clinical and genetic features of children with autosomal dominant and recessive hyperimmunoglobulin E syndrome (HIES).  Methods  HIES patients were studied at the dermatology department of Beijing Children's Hospital, Capital Medical University were collected, from January 2013 to December 2021, diagnosed by both clinical manifestation and genetic assessment. The general data were summarized, the clinical and genetic characteristics were analyzed, and the similarities and differences between autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES) were compared.  Results  A total of 7 children with HIES were studied, including 3 cases of AD-HIES and 4 cases of AR-HIES. There were 4 males and 3 females. All children had recurrent eczema-like lesions, recurrent skin and pulmonary infections, and elevated serum IgE and eosinophil levels. The differences between AD-HIES and AR-HIES mainly include: the main cutaneous infection in 3 children with AD-HIES were bacterial infections (such as abscess and impetigo), while in 4 children with AR-HIES, cutaneous infections were mostly severe viral infection (such as verruca vulgaris and molluscum contagiosum). There were pulmonary parenchymal changes (such as pneumatoceles, cyst and atelectasis) in 3 children with AD-HIES, whilst there were no similar changes in the lungs of 4 children with AR-HIES; 75% of children with AR-HIES had allergic diseases (including asthma and food allergy), while there were no reports of allergic diseases in children with AD-HIES. As for manifestations outside of immune system, AD-HIES was more likely to appear facial dysmorphism(such a broad nasal bridge and a high-arched palate). Furthermore, the incidence of tumor in AR-HIES was higher than that in AD-HIES. AD-HIES was mainly caused by the mutation of STAT3 gene, and AR-HIES was mainly caused by the mutation of DOCK8 gene. We reported two new mutation sites of DOCK8 gene c.1798-2A > T and c.874G > A in two cases, respectively.  Conclusions  For children with clinical manifestations of recurrent eczema-like lesions, repeated infection and significant increase in serum IgE levels, HIES should be suspected, and genetic screening should be carried out to make definite diagnosis and classification, to achieve better long-term management and improve prognosis.

18.
Chinese Journal of Dermatology ; (12): 397-401, 2021.
Article in Chinese | WPRIM | ID: wpr-885227

ABSTRACT

Objective:To analyze gene mutations in 3 families with self-improving collodion ichthyosis.Methods:Clinical data were collected from 3 patients with self-improving collodion ichthyosis. DNA was extracted from the peripheral blood of patients and their parents, and high-throughput sequencing was performed in the patients by using a multi-gene panel targeting congenital ichthyosis. After identification of causative gene loci, Sanger sequencing was performed to bidirectionally verify the mutations in the patients and their parents.Results:All the 3 patients presented with a collodion-like membrane at birth, which was shed within 2-4 weeks after birth, and then they gradually showed similar features of mild ichthyosis, including dry skin, tiny scales at local sites, flexural involvement, mild sweating, heat intolerance, cheek flushing, mild palmoplantar keratosis or palmar hyperlinearity. Compound heterozygous mutations were identified in the ALOX12B gene of the 3 patients, including a paternal mutation c.406_408delGAG and a maternal mutation c.77T>C in case 1, a paternal mutation c.1013C>T and a maternal mutation c.1286C>G in case 2, a paternal mutation c.1232T>C and a maternal mutation c.1440C>A in case 3. Function prediction analysis showed that 4 missense mutations c.77T>C, c.1286C>G, c.1013C>T, c.1232T>C and 1 deletion mutation c.406_408delGAG may exert pathogenic effect, and 1 nonsense mutation c.1440C>A led to the generation of a termination codon encoding a truncated protein p.Tyr480Ter, which may affect the protein function and cause disease. None of the 6 mutation sites had been reported in the past.Conclusion:Compound heterozygous pathogenic mutations were identified in the ALOX12B gene of the 3 patients with self-improving collodion ichthyosis, which were inherited from their parents.

19.
Acta Pharmaceutica Sinica ; (12): 1677-1682, 2021.
Article in Chinese | WPRIM | ID: wpr-881543

ABSTRACT

Research on polymer impurities has always been important in the quality control of cephalosporins. Research on polymers in cephalosporins that lack active amino groups on the C-7 side chain has not been reported. Therefore, our study used cefazolin sodium, which is widely used in the clinic, as an example. The polymer in cefazolin sodium and its product "cefazolin sodium pentahydrate for injection" was analyzed by column switching liquid chromatography-high resolution mass spectrometry. Two polymer impurity peaks were detected and the possible structures of these polymers were suggested. Through two-dimensional liquid chromatography, the chromatographic peaks following Sephadex gel chromatography and high-performance gel chromatography were compared to those obtained by reverse high-performance liquid chromatography (HPLC) for cefazolin sodium as reported in the Chinese Pharmacopoeia. The HPLC method proves more suitable for polymer detection than Sephadex gel chromatography and high-performance gel chromatography. The method of polymer detection for cefazolin sodium was established using the method of related substances HPLC as described in the Chinese Pharmacopoeia.

20.
West China Journal of Stomatology ; (6): 362-367, 2021.
Article in English | WPRIM | ID: wpr-878456

ABSTRACT

With a case of mesial impaction of maxillary first and second molar, the mechanical analysis and clinical applications of a self-made helical spring for the uprighting treatment of mesial impacted molars was introduced.


Subject(s)
Humans , Mandible , Maxilla , Molar , Molar, Third , Tooth Movement Techniques , Tooth, Impacted
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