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1.
Zhongguo dangdai erke zazhi ; Zhongguo dangdai erke zazhi;(12): 1186-1190, 2023.
Article in Chinese | WPRIM | ID: wpr-1009868

ABSTRACT

The patient is a female infant, 4 months and 9 days old, who was admitted to the hospital due to recurrent fever, cough, and hepatomegaly for over a month. The patient was a healthy full-term infant with a normal birth history. At 2 months and 22 days after birth, she developed recurrent fever, cough, and respiratory distress. Chest imaging revealed diffuse bilateral lung lesions, and fiberoptic bronchoscopy showed interstitial changes in both lungs. These suggested the presence of interstitial lung disease. The patient also presented with hepatomegaly, anemia, hyperlipidemia, hypothyroidism, and malnutrition. Genetic testing indicated compound heterozygous variations in the MARS1 gene. This mutation can cause interstitial lung and liver disease, which is a severe rare disorder that typically manifests in infancy or early childhood. It is inherited in an autosomal recessive manner and characterized by early-onset respiratory insufficiency and liver disease in infants or young children. Since its first reported case in 2013, as of June 2023, only 38 related cases have been reported worldwide. This article reports the multidisciplinary diagnosis and treatment of interstitial lung and liver disease in an infant caused by MARS1 gene mutation.


Subject(s)
Female , Humans , Infant , Cough , Hepatomegaly/pathology , Liver Diseases , Lung/pathology , Lung Diseases, Interstitial/pathology , Mutation
2.
Article in Chinese | WPRIM | ID: wpr-755071

ABSTRACT

Mucosal injury is the most common complication of radiotherapy for head and neck neoplasms.The relevant symptoms include oral pain,dysphagia,decreased diet intake,and secondary infection,which can lead to the interruption of treatment and even affect the clinical efficacy and quality of life.Wound repair depends on nutrition supply.Inappropriate nutrition plan may affect the healing process.Therefore,proper nutritional strategy plays a pivotal role in promoting the healing of mucosal injury.Based on current researches on radiotherapy-induced mucosal injury and the effect of nutrients on wound healing,the epidemiology,pathophysiology,clinical manifestations and nutritional therapy for radiotherapy-induced mucosal injury were reviewed,aiming to provide references for clinical practice.

3.
Asian j. androl ; Asian j. androl;(6): 154-159, 2018.
Article in English | WPRIM | ID: wpr-1009573

ABSTRACT

Spermatozoa are not mature until they transit the epididymis where they acquire motility and the ability to fertilize an egg through sequential modifications. The epididymis has three functional regions, caput, corpus, and cauda, and the luminal proteins of the epididymis play important roles in the above modifications. However, the proteins with differential enrichment between the caput and cauda are still largely unknown. To reveal the functions of the caput and cauda during sperm maturation, luminal proteins from caput and cauda of mice were analyzed by isobaric tag for relative and absolute quantitation (iTRAQ). Overall, 128 differentially enriched proteins were found, of which 46 were caput enriched and 82 were cauda enriched. Bioinformatic analysis showed that lipid metabolism was active in the caput; while anion- and cation-binding activity and phosphorus and organophosphate metabolism were active in the cauda. A new epididymal luminal protein, the caput-enriched PDZ domain containing 1 (Pdzk1), also named Na+/H+ exchange regulatory cofactor 3 (NHERF3), which plays a critical role in cholesterol metabolism and carnitine transport, was found in the lipid metabolism. Western blotting and immunofluorescence analyses showed that Pdzk1 was expressed in the epididymis but not in the testis, and localized at the middle piece of the sperm tail. Pdzk1 protein level was also reduced in the spermatozoa in case of asthenozoospermic patients compared with that in normozoospermic men, suggesting that Pdzk1 may participate in sperm maturation regulation and may be associated with male infertility. These results may provide new insights into the mechanisms of sperm maturation and male infertility.


Subject(s)
Adult , Animals , Humans , Male , Mice , Asthenozoospermia/metabolism , Carrier Proteins/metabolism , Case-Control Studies , Epididymis/metabolism , Intracellular Signaling Peptides and Proteins/metabolism , Membrane Proteins , Sperm Maturation , Sperm Tail/metabolism , Spermatozoa/metabolism , Testis/metabolism
4.
Sheng Li Xue Bao ; (6): 424-432, 2018.
Article in Chinese | WPRIM | ID: wpr-687810

ABSTRACT

Mitochondria are an essential component of multicellular life and play important roles in the health of the cells and the body. Mitochondria can produce energy by oxidative phosphorylation, mediate calcium and reactive oxygen signal transduction, and regulate cell apoptosis. Recent studies indicate that mitochondria continually change their shapes and distribution by fission and fusion, which are collectively termed mitochondrial dynamics. Mitochondrial dynamics play critical roles in maintaining mitochondrial function. This review focuses on the structure and biological functions of mitochondrial fission and fusion related proteins in mammal cells.

5.
Article in Chinese | WPRIM | ID: wpr-667959

ABSTRACT

Purpose To study the expression of biomolecules of PI3K-AKT signaling pathway including CD44,TRIM24,TAGLN-2,ER and PR in breast invasive ductal carcinoma,and to explore their clinicopathologic significance.Methods The expression of CD44,TRIM24,TAGLN-2,ER and PR in 73 cases of breast invasive ductal carcinoma were detected by immunohistochemist~ (IHC) technology.And the relationship between the expression of these biomarkers and the age of patients,tumor size,histological grade,lymph node metastasis was analyzed.Besides,the influence of these biomarkers on prognosis and the relationship between the expression of these biomarkers were also analyzed.Results There was no significant relationship between the expression of these biomarkers and the age of patients,tumor size,histological grade,lymph node metastasis.CD44 expression was positively conelated with TAGLN-2 expression (r =0.311,P =0.007),TRIM24 expression was positively correlated with TAGLN-2 expression (r =0.421,P =0.000).CD44 expression was negatively correlated with ER expression (r =-0.285,P =0.015).ER expression was positively correlated with PR expression (r =0.598,P =0.000).The postoperative 5-year cumulative survival-rate of CD44 positive group was lower than those of CD44 negative group (P =0.002),in contrast,the postoperative 5-year survival rate of ER positive group was higher than those of ER negative group (P =0.026).Conclusion Through PI3K-AKT signaling pathway,CD44 and TRIM24 may up-regulate TAGLN-2 expression,however,CD44 may down-regulate ER and PR expression.CD44 and ER may act an useful predictor for the prognosis of breast invasive ductal carcinoma.Combined detection of CD44,ER and PR may provide additional therapeutic information which may be useful in breast cancer treatment.

6.
Article in Chinese | WPRIM | ID: wpr-452490

ABSTRACT

Objective To investigate the RHD gene polymorphism among the RhD negative Han individuals in Xuzhou.Methods The RhD antigen phenotypes were detected by routine serological techniques,and were identified with indirect antiglobulin test (IAT).The genotypes of RHD were detected by using sequence specific primer polymerase chain reaction(SSP-PCR).Results A-mong 110 RhD negative individuals,there were 5 cases carring RHD positive gene,47 cases carring RHD negative gene,22 cases carring RHD-CE(2-9)-D gene,17 cases carring DVI Ⅲ gene,2 cases carring weak D15 gene,and 17 carring DEL-1227A gene,re-spectively.Conclusion The RhD negative Han individuals present complex RHD gene polymorphism in Xuzhou region,and variant alleles such as RHD-CE(2-9)-D,DVI Ⅲ,DEL-1227A are given priority.

7.
Chinese Journal of Pediatrics ; (12): 944-947, 2012.
Article in Chinese | WPRIM | ID: wpr-348499

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the clinical features and molecular diagnostic methods of three patients with DiGeorge anomaly.</p><p><b>METHOD</b>The clinical manifestations and immunological features of the three cases with DiGeorge anomaly were analyzed. We detected the chromosome 22q11.2 gene deletion by fluorescence in situ hybridization (FISH).</p><p><b>RESULT</b>(1) CLINICAL MANIFESTATIONS: All three cases had varying degrees of infection, congenital heart disease and small thymus by imaging; two cases had significant hypocalcemia (1.11 mmol/L and 1.22 mmol/L, respectively), accompanied by convulsions; only 1 case had cleft palate and all had no significant facial deformity. (2) Immunological characteristics: All three cases had varying degrees of T-cell immune function defects (percentage of T lymphocytes was 24% - 43%, absolute count was 309 - 803/µl), and levels of immunoglobulin G, A, M, and percent of B lymphocytes and absolute count were normal. (3) Detection of the chromosome 22q11.2 gene deletion: 400 cells of each case were detected. All cells showed two green and one red hybridization signal, indicating the presence of gene deletions in chromosome 22q11.2. (4) OUTCOME: All three cases were treated with thymosin, and appropriate clinical intervention for cardiac malformations, hypocalcemia, and were followed-up for 4 - 18 months, the prognosis was good.</p><p><b>CONCLUSION</b>DiGeorge anomaly showed diverse clinical manifestations. We should consider the disease if patients had congenital heart disease, thymic hypoplasia, hypocalcemia and/or impaired immune function. FISH for detecting chromosome 22q11.2 gene deletion can be used as accurate and rapid diagnostic method. Thymosin treatment and other clinical intervention may help to improve the prognosis of patients with partial DiGeorge anomaly.</p>


Subject(s)
Female , Humans , Infant, Newborn , Male , Cells, Cultured , Chromosome Deletion , Chromosomes, Human, Pair 22 , Genetics , DiGeorge Syndrome , Diagnosis , Genetics , Allergy and Immunology , Heart Defects, Congenital , Diagnosis , Genetics , Hypocalcemia , Diagnosis , Genetics , In Situ Hybridization, Fluorescence , T-Lymphocytes , Allergy and Immunology , Thymus Gland , Allergy and Immunology , Pathology
8.
Zhongguo dangdai erke zazhi ; Zhongguo dangdai erke zazhi;(12): 37-41, 2007.
Article in Chinese | WPRIM | ID: wpr-357754

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the effects of mild hypothermia on sequential events of neuronal apoptosis following hypoxic-ischemic brain damage (HIBD) in neonatal rats.</p><p><b>METHODS</b>A model of HIBD was prepared by ligating the left common carotid artery in 7-day-old rats, followed by 8% hypoxia exposure. HIBD rats were randomly assigned into a hypothermia group (rectal temperature = 33 centi-degrees) and a normothermia group (rectal temperature = 36 centi-degrees). TUNEL, Haematoxylin and Eosin, and Nissl staining were used to detect neuronal apoptosis. Western blotting, RT-PCR and enzyme activity measurement were used to evaluate the changes of plasma and mitochondrial cytochrome c (Cyt c), caspase-3 mRNA expression and caspase-3 enzyme activity, respectively.</p><p><b>RESULTS</b>The number of apoptotic cells in the ipsilateral hemisphere of the hypothermia group was significantly reduced compared with that of the normothermia group at 72 hrs post-HI (6.4 +/- 1.7% vs 25.3 +/- 1.5%) (P < 0.01). Analysis of Western blotting showed that Cyt c levels increased in the cytosolic fraction, but decreased significantly in the mitochondrial fraction in the ipsilateral hemisphere of the hypothermia group at 24, 48 and 72 hrs of HI insult compared with the normothermia group (P < 0.05). Caspase-3 mRNA increased significantly after 24 hrs post-HI in the normothermia group, and this change became more pronounced with time. Mild hypothermia treatment decreased significantly caspase-3 mRNA expression at 24, 48 and 72 hrs post-HI (P < 0.05). Caspase-3 activity gradually increased 2 hrs after HI insult and peaked at 24 hrs in the normothermia group. Mild hypothermia treatment resulted in a significant reduction in caspase-3 activity in the ipsilateral hemisphere, with an optimal effect produced at 24 hrs post-HI (2.42 +/- 0.5 RFU vs 34.7 +/- 3.2 RFU; P < 0.01).</p><p><b>CONCLUSIONS</b>Mild hypothermia treatment attenuates neuronal apoptosis following HIBD, possibly through a reduction in Cyt c release from mitochondria and an inhibition of caspase-3 mRNA expression and its enzyme activity.</p>


Subject(s)
Animals , Female , Male , Rats , Apoptosis , Brain , Pathology , Caspase 3 , Genetics , Metabolism , Cytochromes c , Bodily Secretions , Hypothermia, Induced , Hypoxia-Ischemia, Brain , Pathology , Therapeutics , RNA, Messenger , Rats, Sprague-Dawley
9.
Chinese Journal of Pediatrics ; (12): 42-45, 2003.
Article in Chinese | WPRIM | ID: wpr-280511

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the protective effects of Huperzine A, a potent acetylcholinesterase inhibitor, against the hypoxic ischemic brain damage (HIBD) of the cognitive and morphology in the neonatal rats.</p><p><b>METHODS</b>Postnatal 7 days old rats were given vehicle or Huperzine A (0.05 mg/kg or 0.1 mg/kg, i.p.) following HIBD (unilateral carotid artery ligation followed by hypoxia) or sham operation, and then tested the learning ability and memory in the Morris water maze (MWM) from 36 to 40 postnatal days. The performance in MWM (escape latency, probe time) were recorded to evaluate the learning and memory dysfunction. At the end of MWM trials, the rats were decapitated and their brains were histologically analyzed. The tissue loss in different brain regions including striatum, cortex, and hippocampus were analyzed by image analysis system. The CA(1) subfield neurons numbers were counted to evaluate the brain damage. The acetylcholinesterase histochemistry staining was used to determine the activity of acetylcholinesterase in different brain regions.</p><p><b>RESULTS</b>Compared with sham-operated group, HIBD rats with the vehicle treatment displayed significant tissue losses in the hippocampus (including CA(1) neurons), cortex, and striatum, as well as severe spatial memory deficits (escape latency: 44 s vs 30 s, P < 0.05, probe time: 14 s vs 40 s, P < 0.01). Huperzine A treatment (0.1 mg/kg) resulted in significant protection against both HI-induced brain tissue losses and spatial memory impairments (mean escape latency: 34 s vs 44 s, P < 0.05, probe time: 35 s vs 14 s,P < 0.01). However, Huperzine A treatment (0.05 mg/kg) did not show any significant improvement of spatial memory impairments (mean escape latency: 45 s vs 44 s, P > 0.05, probe time: 17 s vs 14 s, P > 0.05), but moderate to severe brain tissue losses. There was a pronounced reduction of CA(1) neuron density in ipsilateral hemisphere of vehicle-treated group and 0.05 mg/kg Huperzine A group compared with contralateral hemisphere or ipsilateral hemisphere of sham-operated group and 0.1 mg/kg Huperzine A group (72 vs 232, P < 0.01, 72 vs 229, P < 0.01, respectively). There was a close linear correlation between the CA(1) neurons cell number and the mean escape latency for 5 d acquisition trials (r = 0.777, P < 0.01).</p><p><b>CONCLUSION</b>The unilateral HI brain injury in a neonatal rat model was associated with cognitive deficits, and that Huperzine A treatment may be protective against both brain injury and spatial memory impairment. Huperzine A showed a therapeutic potential for the treatment of hypoxic-ischemic encephalopathy (HIE) caused by the perinatal asphyxia.</p>


Subject(s)
Animals , Female , Male , Rats , Acetylcholinesterase , Metabolism , Alkaloids , Animals, Newborn , Cerebral Cortex , Pathology , Cognition Disorders , Drug Therapy , Corpus Striatum , Pathology , Hippocampus , Pathology , Hypoxia-Ischemia, Brain , Drug Therapy , Maze Learning , Neuroprotective Agents , Therapeutic Uses , Rats, Sprague-Dawley , Sesquiterpenes , Therapeutic Uses , Treatment Outcome
10.
Article in Chinese | WPRIM | ID: wpr-564998

ABSTRACT

Objective To assess the effects of medicated permeation with traditional Chinese medicine Shujin-Zhitong liquid combined with ion tophoresis on osteoarthritis(OA) of rabbit knee joint in vivo.Methods The modified Hulth OA model was prepared with rabbits by anterior cruciate ligament desmotomy plus medial meniscus resection.Twenty-four model rabbits were randomly divided into three groups: Chinese medicine group: treated with Chinese medicine Shujin-Zhitong liquid by ion tophoresis for 20 minutes per day;positive control group: glucosamine hydrochloride was administered orally per day;blank control group: no treatment was administered to the model rabbits.Serum nitrogen monoxidum(NO) concentration was determined at the time points of prior model making,prior treatment,and 4 and 8 weeks of treatment.At 4 and 8 weeks of treatment,the apoptotic rate of chondrocytes was determined by flow cytometry,and the gene expressions of collagen Ⅱand aggrecan were determined by reverse transcription polymerase chain reaction(RT-PCR).Results The contents of serum NO in Chinese medicine group and positive control group were lower than that in blank control group at 4 weeks after treatment,and the content of serum NO in Chinese medicine group was lower than those in positive control group and blank control group at 8 weeks after treatment.The apoptotic rates in Chinese medicine group and positive control group were lower than that in blank control group at 4 and 8 weeks after treatment.Gene expression levels of collagen Ⅱ and aggrecan in Chinese medicine group and positive control group were higher than that in blank control group at 4 weeks after treatment,while the gene expression level in Chinese medicine group was higher than those in positive and blank control groups at 8 weeks after treatment.Conclusions The treatment of medicated permeation with traditional Chinese medicine Shujin-Zhitong liquid combined with ion tophoresis has shown good therapeutic effect on osteoarthritis(OA) of rabbit knee joint,the mechanism might be the inhibition of chondrocytes apoptosis and reduced secretion of inflammatory factors,and the improvement of cartilage repair by up-regulating related gene expression of chondrocyte.

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