Objectives To investigate the role of laminin (LM) and fibronectin (FN) in the growth cycle of human hair follicles. Methods The expression of LM and FN was detected by streptavidin-peroxidase (SP) staining. Results In the anagen phase, LM was expressed in dermal papilla, basement membrane and outer root sheath; FN was expressed in dermal papilla, basement membrane and connective tissue sheath. In the catagen phase, LM showed a lower expression in the dermal papilla and a linear expression in the basement membrane; the expression of FN in the dermal papilla and basement membrane was less intense than that in anagen phase, but was still positive. In the telogen phase, LM was only expressed in the basement membrane while FN was negative. Conclusion The difference between LM and FN expression in hair growth cycle indicates that LM and FN may play important roles in the regulation of human hair follicle growth cycl.

Objective To investigate the location and proliferation of human hair follicle stem cells. Methods The expression of keratin 19(K19) in the human hair follicles on the occiput was detected by immunohistochemical staining, and the positive area was located. The follicle epithelium containing the K19-positive area above the hair bulb were cultured with or without mesenchymes (dermal papilla cells, DPCs) at the air-liquid interface of the collagen gel. When the proliferating colonies formed, the distance from the colony to the bottom of hair follicles was measured and the relationship between the K19-positive position and the proliferation colonies was analyzed. The ultrastructure of the proliferation colony was observed by transmission electron microscopy. Results Two portions were found positive for K19 in the outer root sheath of the human hair follicles, the upper one being at the bulge region and the lower one at the outer root sheath above the hair bulb. The proliferating colony formed only when the epithelium of the hair follicle was co-cultured with mesenchymes cells. The statistical analysis suggested the lower portion positive for K19 and the proliferation colonies in the culture were traced to locate at the same site of the human hair follicles. Under electron microscopy, juvenile cells, mature keratinocytes and apoptotic cells were found in the proliferating colonies. Conclusions The human hair follicles may contain two distinct reservoirs for stem cells, which locate in the bulge area and in the region of the outer root sheath above the hair bulb, respectively. Mesenchymes are needed for the proliferation of stem cells. New stem cells, mature keratinocytes and apoptotic cells may be three endings of the stem cells′ proliferation.

Objective To investigate the clinical features of systemic sclerosis( SSc)patients with pulmonary hypertension(PAH)ane its treatment approach ane prognosis. Methods The clinical information of 16 SSc patients with PAH(PAH group)were recoreee. Seventy-four SSc without PAH were servee as no-PAH group. Patients in PAH group were given the basic therapy inclueing oxygen therapy,anticoagulants,careiac, eiuretic,anti-rheumatic,pulmonary vasoeilator therapy. Results The rate of antinuclear antiboey in PAH ane non-PAH group were 87. 5%(14 / 16)ane 75. 7%(56 / 74),ane the eifference was statistically significant(P= 0. 508). Serum albumin,erythrocyte seeimentation rate at 1 h in PAH group were(32. 6 ± 4. 6)g/ L ane (48. 4 ± 29. 4)mm/ 1 h. The rate of acral lesion proteinuria,hematuria,ECG abnormal rate were 62. 5%(10 / 16),62. 5%(10 / 16),43. 8%(7 / 16),62. 5%(10 / 16)respectively in PAH group. Serum albumin, erythrocyte seeimentation rate at 1 h in PAH group were(35. 6 ± 5. 0)g/ L ane(31. 3 ± 26. 3)mm/ 1 h in non-PAH group. The rate of acral lesions,proteinuria,hematuria,ECG abnormal rate were 31. 1%(23 / 74),27. 0%(20 / 74),12. 2%(9 / 74),9. 5%( 7 / 74 ) respectively in non-PAH group. The eifferences were significant between in terms of all above ineices(P = 0. 033,0. 041,0. 018,0. 006,0. 003,0. 000). During follow-up,the eisease was in stable in 74 case of non-PAH. Among 16 case with PAH,1 mile case was lost,1 case with severe PAH eiee of severe pneumonia,pulmonary hypertension,right ventricular failure,respiratory failure,3 mile patient with PAH were with eevelopment of primary eisease ane the rest 11 cases of PAH patients were with lower interstitial lung eisease than that of the previous eetectee by chest HRCT. Oppler echocareiography measurement of pulmonary artery systolic pressure was(48. 9 ± 2. 4)mmHg before treatment ane then reeucee to(31. 5 ± 4. 5)mmHg in rest 11 cases(t = 22. 27;P = 0. 001)measuree by Doppler echocareiography. Careiac function was improvee euring followee up ane no other aeverse reactions were seen. Conclusion SSc patients merge multiple PAH show it associate with other organ eamage,ane has a poor prognosis. Early careiac Doppler ultrasoune shoule be performee in oreer to get early eiagnosis ane treatment. Treatment approaches shoule be targetee at the primary eisease ane incentives such as pulmonary besiee oxygen therapy,eiuretics,careiac ane anticoagulant erugs in oreer to improve prognosis.

Objective:To investigate the clinical characteristics and pathogenic mutations of propionic acidemia.Methods:Clinical data of two patients with propionic acidemia admitted to the Obstetrics and Gynecology Hospital of Nanjing Medical University from May 2017 to June 2018 were collected. Genomic DNA was extracted from the peripheral blood of the patients and their parents. Inherited disease panel based on Ion Torrent semiconductor sequencing technology was performed to detect gene mutations, and those with suspected pathogenic mutations were verified by Sanger sequencing. Descriptive statistical analysis was used for data analysis.Results:Case 1 was suspected of sepsis and admitted to the Obstetrics and Gynecology Hospital of Nanjing Medical University due to "drowsiness and milk rejection" on the second day after birth. Tandem mass spectrometry suggested the level of propionyl carnitine and its ratios to acetylcarnitine and free carnitine were increased. Urine gas chromatography-mass spectrometry showed elevated 3-hydroxypropionic acid and methylcitric acid. Genetic analysis revealed that the infant carried c.331C>T (p.R111X)/c.1228C>T (p.R410W) compound heterozygous mutations in the PCCB gene. The infant was diagnosed with propionic acidemia and treated with a special diet with an L-Carnitine supplement but died of sudden coma and vomiting without precipitating factors at three months of age. Case 2 presented with sudden vomiting, drowsiness, and anergia on the admission at five-months old. Tandem mass spectrometry showed increased propionyl carnitine level and its ratios. Compound heterozygous mutations of c.146delG (p.G49EfsX16)/c.1253C>T (p.A418V) in the PCCB gene were identified in the patient, of which c.146delG (p.G49EfsX16) was a de novo mutation and was evaluated as a pathogenic mutation. The patient was on a special diet with an L-Carnitine supplement, but with disobedience. Followed up to the age of three years and eight months, the child was severely underdeveloped. Conclusions:Neonates with clinically suspected sepsis may have propionic acidemia, and tandem mass spectrometry and genetic testing should be performed as soon as possible to confirm or rule out the diagnosis. Further investigations on the pathogenesis and function of the new mutation are still needed.

Objective To investigate the expression of transforming growth factor beta (TGF-β) and Smad signaling in ankylosing spondylitis (AS) and to explore their roles in the pathogenesis. Methods Fiftythree patients with AS were included in the study. In these 53 cases, 30 patients were performed computed tomography-guided needle biopsy in sacroiliac joint. Serum TGF-β_1 was determined by enzyme-linked immunosorbent assay (ELISA). Immunohistological studies were performed with the streptavidin-peroxidase conjugated methods to assess the expression of TGF-β_1, p-smad3 and Smad7 in sacroiliac joint tissue sample.One-way ANOVA, two independent samples t test and kolmogoorov-Simimov test were used to do statistical analysis. Results In 53 cases patients with AS, 20 cases were with high level Erythro-cyte sedimentation rate(ESR) and C-reactive protein (CRP), while those of the other 33 cases were normal. Serum average TGF-β_1level [ (15.9±5.6) ng/ml ], in patients with high level ESR/CRP [(5.4±5.8) ng/ml ] was significantly increased as compared to the controls and patients with normal ESR/CRP [(4.1±3.6) ng/ml] (P<0.05). There was no expression of TGF-β_1 could be detected in the pannus and bone marrow in SI joints tissue of 30 cases with AS, while decreased level of smad7 expression was detected. In addition, p-smad3 expression was found in the nuclear. Conclusion TGF-β_1 signaling may play an important role in the inflammatory erosion and cartilage fibrosis of sacrojlitis in AS.

Objective Through the development of"real-time monitoring,early warning and tracking management sys-tem for infectious diseases in hospitals",real-time monitoring and early warning are realized,report cards are generated,and case tracking and management of infectious diseases are formed.Methods We selected 22 185 cases of infectious disease re-ports from April 2020 to October 2022 and 33 640 cases of infectious disease reports from November 2022 to May 2024,and com-pared the 19-month period before and after the launch of the new infectious disease early warning management system with that be-fore the launch of the original traditional infectious disease reporting management system,and compared the rate of infectious dis-ease reporting,the accuracy of infectious disease reporting,the timeliness of infectious disease reporting(time),the accuracy of infectious disease reporting,and the quality of infectious disease reporting(time),Infectious disease reporting timeliness(time),effectiveness of infectious disease tracking,and clinical medical staff's satisfaction with infectious disease reporting were compared and analyzed.Results After the use of the new hospital infectious disease early warning and tracking management sys-tem,the differences in infectious disease reporting rate,infectious disease reporting accuracy,infectious disease reporting timeli-ness,infectious disease tracking effectiveness,and clinical medical staff's satisfaction with infectious disease reporting were all sta-tistically significant(P＜0.05).Conclusion The development of"real-time monitoring,early warning and tracking management system for infectious diseases in hospitals"has significantly improved the reporting rate of infectious diseases,the accuracy of infec-tious disease reporting,the timeliness of infectious disease reporting,the effectiveness of infectious disease tracking,and the satis-faction of infectious disease reporting of clinical medical staff,and it has the characteristics of real-time,high efficiency and accura-cy,and the effect of early warning and tracking management is good,which has good value for promotion.It is characterized by re-al-time,high efficiency and accuracy,with good effect of early warning and tracking management,and has good promotion value.

OBJECTIVE: To explore the genetic basis for an infant with early-onset argininemia. METHODS: Potential variant was detected with an Ion Torrent semiconductor sequencer using a gene panel for inherited diseases. Suspected variants were verified by Sanger sequencing. RESULTS: Genetic testing indicated that he has carried c.560+2T>C and c.811T>C compound heterozygous variant of the AGR1 gene, which were inherited from his father and mother, respectively. Among these, c.560+2T>C was suspected to be pathogenic, while c.811T>C was of unknown clinical significance, and both were not reported previously. CONCLUSION The c.560+2T>C and c.811T>C compound heterozygous variants of the AGR1 gene probably underlies the argininemia in this child. Above finding has enriched the variant spectrum of the AGR1 gene.
Arginase ; genetics ; Female ; Genetic Testing ; Humans ; Hyperargininemia ; genetics ; Infant ; Male

Objective: To explore the genetic basis for an infant with early-onset argininemia. Methods: Potential variant was detected with an Ion Torrent semiconductor sequencer using a gene panel for inherited diseases. Suspected variants were verified by Sanger sequencing. Results: Genetic testing indicated that he has carried c. 560+ 2T>C and c. 811T>C compound heterozygous variant of the AGR1 gene, which were inherited from his father and mother, respectively. Among these, c. 560+ 2T>C was suspected to be pathogenic, while c. 811T>C was of unknown clinical significance, and both were not reported previously. Conclusion The c. 560+ 2T>C and c. 811T>C compound heterozygous variants of the AGR1 gene probably underlies the argininemia in this child. Above finding has enriched the variant spectrum of the AGR1 gene.

Objective:To analyze the diagnosis and treatment process, treatment methods and clinical efficacy of children with refractory Tourette′s syndrome (TS), thus providing a basis for comprehensive prevention and treatment of refractory TS.Methods:A total of 90 children with refractory TS treated in the Child Mental Health Research Center of Nanjing Brain Hospital Affiliated to Nanjing Medical University from May 2012 to July 2019 were recruited.Their baseline characteristics, diagnosis of comorbidities before and after hospitalization, combined non-drug therapy during hospitalization, the drug types used before and after admission, the dosages of main anti-tic drugs used before admission and at discharge, and the treatment outcomes of comorbidities after admission were retrospectively analyzed.The Yale global tic severity scales (YGTSS) scores and the reduction rate were used to assess the severity of tic disorder and therapeutic effect, and the clinical global impression-efficacy index (CGI-EI) scores were graded for assessing the final therapeutic efficacy.Results:Among the 90 children with refractory TS, 82 children were males and 8 children were females.There was a significant difference in the YGTSS scores at admission and discharge (25.04±12.77 vs.67.64±12.46) ( t=27.55, P<0.05). The proportion of all recruited children diagnosed with comorbidities at discharge was significantly higher than that of admission (85.56% vs.47.78%, χ2=28.90, P<0.05). Combined non-drug therapies after admission mainly included psycho-education and supportive therapy (90 cases), comprehensive behavioral intervention for tics (47 cases) and relaxation therapy (19 cases). The distribution of drugs used before and after admission was the same, and there was no significant difference in the dosages of the five major anti-tic drugs before admission and at discharge (all P>0.05). There were no significant differences in YGTSS scores and reduction rate, and CGI-EI scores of children with or without comorbidities before and after admission (all P>0.05), suggesting the similar therapeutic outcomes. Conclusions:There is no difference in efficacy between outpatient treatment and anti-tic medication of children with refractory TS, and a comprehensive hospitalized intervention can significantly improve their clinical symptoms.Diagnosis and treatment of comorbidities and combined non-drug treatments like comprehensive psychological and behavioral interventions are the key events to improve the prognosis of children with refractory TS.

Objective:To explore the significance of empathy and executive function indexes in the diagnosis and classification of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD).Methods:According to DSM-Ⅴ diagnostic criteria, 33 children with ASD, 30 children with ADHD and 39 typical development (TD) children and adolescents were enrolled as the research subjects.The empathy and executive function characteristics were compared and analyzed in the subjects.Based on empathy and executive function indicators, the three groups of subjects were diagnosed and classified by machine learning method.Results:The total score of Griffith empathy measure parent ratings(GEM-PR)(ASD: (0.67±0.64), ADHD: (1.00±0.79), TD: (0.98±0.73)) and each factor score ( F=3.595-10.363, all P<0.05) and the total score of behavior rating inventory of executive function(BRIEF)(ASD: (62.79±7.45), ADHD: (59.47±8.77), TD: (49.08±7.91)) and each factor score of the three groups were different ( F=6.557-33.205, all P<0.01). Among them, the scores of empathy and executive function in ASD and ADHD groups were generally higher than those in TD children (all P<0.05). When combined with BRIEF scale and GEM scale, the classification accuracy of the three groups reached 62.75%. Conclusion:Both ASD and ADHD children have damages in empathy and executive function.Combining empathy and executive function indexes are more helpful for diagnosis and classification than single index.