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1.
Int J Biol Macromol ; 274(Pt 2): 133138, 2024 Jun 18.
Article in English | MEDLINE | ID: mdl-38901509

ABSTRACT

Efficient management of hemorrhage is vital for preventing hemorrhagic shock and safeguarding wounds against infection. Inspired by the traditional Chinese steamed bread-making process, which involves kneading, foaming, and steaming, we devised a hemostatic sponge by amalgamating an acellular dermal matrix gel, hydroxyethyl starch, and rice hydrolyzed protein. The integration of hydroxyethyl starch bolstered the sponge's mechanical and hemostatic attributes, while the inclusion of rice hydrolyzed protein, acting as a natural foaming agent, enhanced its porosity This augmentation facilitated rapid blood absorption, accelerated clot formation, and stimulated the clotting cascade. Experimental findings underscore the exceptional biocompatibility and physicochemical characteristics of the hemostatic sponge, positioning it on par with commercially available collagen hemostatic sponges for hemorrhage control. Mechanistically, the sponge fosters aggregation and activation of red blood cells and platelets, expediting coagulation kinetics both in vivo and in vitro. Notably, this hemostatic sponge activates the clotting cascade sans crosslinking agents, offering a premium yet cost-effective biomaterial with promising clinical applicability.

2.
ACS Omega ; 9(18): 20425-20436, 2024 May 07.
Article in English | MEDLINE | ID: mdl-38737053

ABSTRACT

The prevalence of chronic wounds (CW) continues to grow. A thorough knowledge of the mechanism of CW formation remains elusive due to a lack of relevant studies. Furthermore, most previous studies concentrated on diabetic ulcers with relatively few investigations on other types. We performed this multiomics study to investigate the proteomic and metabolomic changes in wound and surrounding tissue from a cohort containing 13 patients with nondiabetic CW. Differentially expressed proteins (DEPs) and metabolites (DEMs) were filtered out and analyzed through multiomic profiling. The DEPs were further confirmed with the use of parallel reaction monitoring. Compared with the surrounding tissue, there were 82 proteins and 214 metabolites altered significantly in wound tissue. The DEPs were mainly enriched in focal adhesion (FA), extracellular matrix-receptor interaction (ERI), and the PI3K-Akt (PA) signaling pathway. Moreover, the DEMs were significantly enriched in amino sugar and nucleotide sugar metabolism and biosynthesis of nucleotide sugar pathways. In correlation analysis, we discovered that the PA signaling pathway, as well as its upstream and downstream pathways, coenriched some DEPs and DEMs. Additionally, we found that FBLN1, FBLN5, and EFEMP1 (FBLN3) proteins dramatically elevated in wound tissue and connected with the above signaling pathways. This multiomics study found that changes in FA, ERI, and PA signaling pathways had an impact on the cellular activities and functions of wound tissue cells. Additionally, increased expression of those proteins in wound tissue may inhibit vascular and skin cell proliferation and degrade the extracellular matrix, which may be one of the causes of CW formation.

3.
Heliyon ; 10(6): e27803, 2024 Mar 30.
Article in English | MEDLINE | ID: mdl-38524543

ABSTRACT

Developmental dysplasia of the hip (DDH) is the most common hip deformity in pediatric orthopedics. One of the common pathological changes in DDH is the thickening and hypertrophy of the ligamentum teres. However, the underlying pathogenic mechanism responsible for these changes remains unclear. This study represents the first time that the heterogeneity of cell subsets in the abnormal ligamentum teres of patients with DDH has been resolved at the single-cell and spatial levels by snRNA-Seq and MiP-Seq. Through gene set enrichment and intercellular communication network analyses, we found that receptor-like cells and ligament stem cells may play an essential role in the pathological changes resulting in ligamentum teres thickening and hypertrophy. Eight ligand-receptor pairs related to the ECM-receptor pathway were observed to be closely associated with DDH. Further, using the Monocle R package, we predicted a differentiation trajectory of pericytes into two branches, leading to junctional ligament stem cells or fibroblasts. The expression of extracellular matrix-related genes along pseudotemporal trajectories was also investigated. Using MiP-Seq, we determined the expression distribution of marker genes specific to different cell types within the ligamentum teres, as well as differentially expressed DDH-associated genes at the spatial level.

4.
BMC Musculoskelet Disord ; 24(1): 598, 2023 Jul 21.
Article in English | MEDLINE | ID: mdl-37479999

ABSTRACT

BACKGROUND: In this study, to provide a theoretical basis for understanding the clinical characteristics of epiphyseal fractures in children and improving their management, we explored and analyzed the proportions of different types of epiphyseal fractures in children and evaluated the causes of injury and epidemiological characteristics. METHODS: We retrospectively analyzed children younger than 18 years with fresh epiphyseal fractures who were admitted to our hospital from July 2015 to February 2020. Demographic information, injury mechanisms, fracture characteristics, fracture classification and surgical information were collected. RESULTS: A total of 1124 pediatric patients (1147 epiphyseal fractures), including 789 boys and 335 girls, were included in this study. Epiphyseal fractures were classified as Salter-Harris type II (1002 cases), type IV (105 cases), type III (25 cases), Salter-Harris type I (14 cases), and Salter-Harris type V (1 case). The number of fracture sites peaked in the adolescent group (440 cases). The most three common sites of epiphyseal fractures were the distal radius (460 cases) in which Salter-Harris type II fractures were the most common (454 cases) and Salter-Harris type I (3 cases), Salter-Harris type IV (2 cases), Salter-Harris type III was the least common (1 case). Followed by phalanges of fingers (233 cases) in which Salter-Harris type II fractures were the most common (224 cases) and Salter-Harris type IV (4 cases), Salter-Harris type I (3 cases), Salter-Harris type III fractures were the least common (2 cases). Distal humerus (146 cases) in which Salter-Harris type II fractures were the most common (95 cases), followed by Salter-Harris type IV (49 cases), Salter-Harris type I fractures were the least common (2 cases). The most three important causes of fractures were falls (720 patients), car accident injuries (68 patients), and basketball falls (43 patients). Among the 1124 children with epiphyseal fractures, 1058 were treated mainly by surgery and the ratio of open and closed reduction was 1:5.3. Eighty-eight patients showed an interval > 72 h between the injury and the hospital visit. Among these 88 patients, the most common fracture type was distal radial epiphyseal fracture (32 cases), and all fractures were of Salter-Harris type II. CONCLUSIONS: The epidemiological characteristics of epiphyseal fractures in children indicate the need to strengthen health and safety education and protective measures to prevent the occurrence of these fractures in children. In addition, emergency surgeons and orthopedic surgeons in general hospitals should strengthen their basic knowledge of diagnosing and treating epiphyseal injuries in children to reduce missed diagnoses, misdiagnoses or malpractice.


Subject(s)
Fractures, Bone , Fractures, Closed , Wrist Fractures , Adolescent , Male , Female , Humans , Child , Retrospective Studies , Fingers
5.
J Craniofac Surg ; 33(8): 2704-2710, 2022.
Article in English | MEDLINE | ID: mdl-36409848

ABSTRACT

OBJECTIVE: To investigate the correlation between the features of basement membranes (BMs) of residual myofibers in the sternocleidomastoid muscle (SCM) and fibrosis of congenital muscular torticollis (CMT) in children, and to evaluate the relationship between BM changes and appearance of CMT. MATERIALS AND METHODS: We reviewed the CMT patients from 2017 to 2018 and performed pathological studies. Forty resected specimens were stained by hematoxylin and eosin and Masson collagen staining. Immunohistochemical staining of collagen IV and laminin was also performed. Five adductor muscle specimens from patients with developmental dysplasia of the hip were used as the control group. RESULTS: Hematoxylin and eosin staining revealed apparent interstitial fibrosis around residual myofibers in lesion specimens. However, the severity of fibrosis differed within the same samples. The average percent area of fibrous tissue in affected SCMs and controls were different significantly. Immunohistochemical staining of collagen IV and laminin showed these proteins were mostly expressed in the BM and vascular wall of affected SCM. However, BMs and myofibers from three different areas within the same SCM tissue exhibited significant differences in proteins expression. CONCLUSIONS: Therefore, the defective BMs are associated with myofiber and mesenchyme fibrosis in patients with CMT, which is crucial for understanding the histopathology of SCM.


Subject(s)
Fibroma , Laminin , Child , Humans , Hematoxylin , Eosine Yellowish-(YS) , Neck Muscles , Fibrosis , Fibroma/pathology , Basement Membrane/pathology
6.
Pediatr Investig ; 6(3): 156-162, 2022 Sep.
Article in English | MEDLINE | ID: mdl-36203522

ABSTRACT

Importance: There are a variety of musculoskeletal malformations and injuries that can occur in newborns. These can be a significant cause of perinatal death or a reason for miscarriage and can lead to long-term functional issues if not managed appropriately. There is no systematic and well-established screening program for neonatal musculoskeletal malformations and injuries in China now. Objective: To report the incidence and types of congenital musculoskeletal malformations in two hospitals in Shenzhen City, to explore and discuss the details of the screening procedure and improve future prevention and treatment. Methods: From October 2013 to May 2014, 2564 one-day-old newborns were screened by a pediatric orthopedic physical examination, in combination with ultrasonography when required, and the incidence and variety of diseases were recorded statistically. Results: Among 2564 screened newborns, the following musculoskeletal conditions were identified: congenital muscular torticollis (CMT) (seven cases, 0.27%), hip subluxation (four cases, 0.16%), hip dysplasia (47 cases, 1.83%), congenital talipes equinovarus (CTEV) (two cases, 0.08%), congenital talipes calcaneovalgus (15 cases, 0.58%), polydactyly (nine cases, 0.35%), syndactyly (one case, 0.04%), and spinal hemivertebra (one case, 0.04%). Additionally, there were five (0.19%) neonates with birth injuries. Interpretation: It is feasible to carry out neonatal screening and identification of musculoskeletal malformations and birth injuries in China. This is helpful as timely detection and early intervention for many of these conditions can avoid permanent functional impairment in these children.

7.
BMC Musculoskelet Disord ; 23(1): 892, 2022 Oct 01.
Article in English | MEDLINE | ID: mdl-36183061

ABSTRACT

PURPOSE: To investigate the factors influencing and long-term effects of manual myotomy (MM) occurring during physiotherapy for congenital muscular torticollis (CMT). METHODS: We retrospectively collected the clinical data of children with CMT receiving physiotherapy between 2008 and 2018. The children were divided into manual myotomy (MM) and non-manual myotomy (NMM) groups according to whether MM occurred during treatment. We assessed physiotherapy outcomes in children with CMT using craniofacial asymmetry parameters and the Cheng-Tang rating score. By measuring the ear-eye distance, ear-nose distance, eye-mouth distance, ear-mouth distance, half-head circumference, and half-head top at two sides to evaluate craniofacial asymmetry. Based on the Cheng-Tang assessment criteria, we recorded the range of rotation, range of lateral flexion, the status of the contracted muscle, the hardness of the mass, the extent of head tilting during activities and sleeping, the status of daily activities, face size, type of head shape, cranial changes, and subjective head tilting to assess the effectiveness of treatment. Clinical data and outcome indicators (craniofacial asymmetry parameters and Cheng-Tang rating score) were compared. RESULTS: The MM group had a significantly higher total Cheng-Tang rating score than the NMM group (P < 0.05). Age at initial physiotherapy session was the risk factor for MM during physiotherapy. CONCLUSION: Children with CMT developing MM during physiotherapy generally have a good outcome, although we do not recommend MM as a goal of treatment. Physiotherapists should understand this phenomenon, assess relevant factors to predict risk, and carefully observe treatment to prevent possible complications.


Subject(s)
Fibroma , Myotomy , Torticollis , Child , Humans , Infant , Neck Muscles , Physical Therapy Modalities , Retrospective Studies , Torticollis/complications , Torticollis/congenital , Torticollis/surgery , Treatment Outcome
8.
J Orthop Surg Res ; 17(1): 300, 2022 Jun 03.
Article in English | MEDLINE | ID: mdl-35658921

ABSTRACT

BACKGROUND: Fractures are the most common type of unintentional injury in children, with traumatic upper limb fractures accounting for approximately 80% of all childhood fractures. Many epidemiological investigations of upper limb fractures in children have been conducted, but with the development of society, the patterns of childhood fractures may have changed. This study aimed to analyze the epidemiology and economic cost factors of upper limb fractures in Chinese children. METHODS: We retrospectively reviewed children with upper limb fractures or old upper limb fractures hospitalized between December 1, 2015, and December 31, 2019, in 22 tertiary children's hospitals, under China's Futang Research Center of Pediatric Development. We used the ICD10 codes on the front sheet of their medical records to identify cases and extracted data on age, sex, injury cause, fracture site, treatment, the year of admission and discharge, visiting time, and various costs during hospitalization from the medical record. RESULTS: A total of 32,439 children (21,478 boys and 10,961 girls) were identified, of whom 32,080 had fresh fractures and 359 had old fractures. The peak age was 3-6 years in both sexes. A total of 4788 were infants, 14,320 were preschoolers, 10,499 were in of primary school age, and 2832 were adolescent. Fractures were most frequent in autumn (August to October). Admissions peaked at 0 o'clock. Among the 32,080 children with fresh upper limb fractures, the most common fracture site was the distal humerus, with a total of 20,090 fracture events including 13,134 humeral supracondylar fractures and 4914 lateral humeral condyle fractures. The most common cause of injuries was falling over. The most common joint dislocation accompanying upper limb fractures occurred in the elbow, involving 254 cases. Surgery was performed in 31,274 children, and 806 did not receive surgery. Among those with clear operative records, 10,962 children were treated with open reduction and 18,066 with closed reduction. The number of cases was largest in the East China region (Anhui Province, Shandong Province, Jiangsu Province, Zhejiang Province, and Fujian Province), with 12,065 cases overall. Among the 359 children with old fractures, 118 were admitted with a diagnosis of "old humerus fracture," accounting for the highest proportion; 244 underwent surgical open reduction, 16.16% of whom had osteotomy. For the children with fresh fractures, the average total hospital cost was 10,994 yuan, and the highest average total hospital cost was 14,053 yuan, for humeral shaft fractures. For the children with old fractures, the average total hospital cost was 15,151 yuan, and the highest average total hospital cost was 20,698 yuan, for old ulna fractures. Cost of materials was the principle factor affecting total hospital cost, followed by surgery and anesthesia costs, both in children with fresh fractures and those with old fractures. Significant differences were observed in all hospital costs (P < 0.001) except treatment costs (P = 0.702), between children with fresh fractures and those with old fractures. Among the 32,439 children, full self-payment accounted for the highest proportion of all payment methods, involving 17,088 cases, with an average cost of 11,111 yuan. CONCLUSION: Information on the epidemiological characteristics of childhood fractures suggests that health and safety education and protective measures should be strengthened to prevent upper limb fractures in children. For both fresh and old fractures, the cost of materials was the principal factor affecting total hospital cost, followed by surgery and anesthesia costs. The overall average total hospital cost is higher in children with old fractures than in children with fresh fractures. Among all children, full self-payment, at 53% of children, accounted for the highest proportion of all payment methods. Hospital costs are a headache for those families who will pay on their own. It can lead to a delayed treatment and unhealed fractures or malunion in some children. Therefore, the child trauma care system and training on fractures need to be improved, to reduce the late presentation of fractures. These combined measures will improve children's quality of life, reduce the expenditure of families, and decrease the public health burden. To provide better medical services for children, authorities must improve the allocation of health resources, establish a comprehensive medical security system for children, and set up more child trauma centers.


Subject(s)
Child, Hospitalized , Humeral Fractures , Adolescent , Child , Child, Preschool , Elbow , Female , Humans , Humeral Fractures/surgery , Humeral Fractures/therapy , Infant , Male , Quality of Life , Retrospective Studies , Tertiary Care Centers
9.
BMC Pediatr ; 22(1): 161, 2022 03 29.
Article in English | MEDLINE | ID: mdl-35351043

ABSTRACT

PURPOSE: To explore and analyze the causes and related influencing factors of pediatric fractures, and provide theoretical basis for reducing the incidence and adverse effects of pediatric fractures. METHODS: This study retrospectively analyzed the epidemiological characteristics of fractures in pediatric aged ≤18 years old who were admitted to the our hospital between July 2015 and February 2020. RESULTS: A total of 10,486 pediatric patients were included in the study, of whom 6961 (66.38%) were boys, and 3525 (33.62%) were girls. For the fracture incidence, age group of the 3-6 years reached the peak. 5584 (60.76%) children were operated upon within 12 h after admission. The top three types of fractures were the distal humerus (3843 sites, 27.49%), distal ulna (1740 sites, 12.44%), and distal radius (1587 sites, 11.35%). The top three causes of injury were falls (7106 cases, 82.10%), car accidents (650 cases, 65.72%), and clipping (465 cases, 5.37%). Fractures predominantly occurred between July and November (4664 cases, 48.87%) and on Saturdays and Sundays (3172 cases, 33.24%). The highest number of hospital visits occurred between 20:00 and 00:00 (4339 cases, 45.46%). CONCLUSION: For pediatric fractures, we should take appropriate and effective preventive measures to reduce the incidence of children's fractures according to the distribution characteristics of age, gender, cause of injury, and fracture site.


Subject(s)
Fractures, Bone , Wrist Joint , Adolescent , Child , Child, Preschool , Female , Fractures, Bone/epidemiology , Fractures, Bone/etiology , Fractures, Bone/therapy , Hospitals , Humans , Incidence , Male , Retrospective Studies
11.
BMC Musculoskelet Disord ; 22(1): 593, 2021 Jun 26.
Article in English | MEDLINE | ID: mdl-34174865

ABSTRACT

BACKGROUND: Unintentional injury is one of the top three causes of death for infants. However, the epidemiological studies of skeletal trauma and skull fractures in infants younger than 1 year were poorly understood in China. Therefore, our study aimed to examine accidental and emergency attendance in infants under 1 year. It also tried to determine the prevalence and severity of accident types in infants. METHODS: A retrospective analysis was performed on the demographic characteristics of infants younger than 1 year with skeletal trauma and skull fractures who visited the Shenzhen Children's Hospital from January 1, 2016 to December 31, 2019. Age, gender, fracture site and type, mechanism of injury, length of visit, length of hospital stay, hospitalization cost, and treatment methods were analyzed. RESULTS: A total number of 675 fractures in 664 infants were included, the median age was 187days (IQR,90-273days), including 394 males and 270 females. The top three fracture sites were the skull (430 sites, 63.70 %), long bones of the limbs (168 sites, 24.89 %), and clavicle (53 sites, 7.85 %). The top three causes of injury were locomotion injuries (256 cases, 38.55 %), falls or trips from low height (from beds, tables, chairs, etc.) (130 cases, 19.58 %), and birth injuries (97 cases, 14.61 %). The greatest amount of fractures occurred in children 1-28 days of life (d) reached a top of 101 cases, followed by 331-365 days, accounting for 15.21 and 10.24 %, respectively. The number of fractures reached a trough of 29 cases in the 29-60d group (4.37 %). And increased again to 65 cases in the 151-180d group (9.79 %). The proportion remained relatively constant at 9 % in the 181-210d group (9.19 %) and 211-240d group (9.64 %). The interval between injury and visiting our hospital was ≤ 72 h in 554 cases. CONCLUSIONS: Special attention should be given to the demographic characteristics of fractures in infants under 1 year of age, and appropriate outreach should be implemented. For example, health education should be provided to aid in the prevention especially for frequently occurring locomotion injuries, and prompt access to specialist medical care should be recommended for skull fractures, which are prone to delayed treatment. In addition, multidisciplinary collaboration should be implemented in trauma care, while also promoting the establishment of trauma centers in specialist children's hospitals with a stronger capacity to treat pediatric trauma, and a regional system for pediatric trauma treatment.


Subject(s)
Skull Fractures , Accidental Falls , Child , China , Female , Humans , Infant , Male , Retrospective Studies , Skull
12.
Injury ; 52(4): 849-854, 2021 Apr.
Article in English | MEDLINE | ID: mdl-33051074

ABSTRACT

BACKGROUND: The objective of this study was to compare the outcomes and complications of patients who underwent either the calcaneal skeletal traction (CST) or the elastic intramedullary nails (EIN) procedure. METHODS: We retrospectively reviewed data of patients who underwent EIN or CST surgery for tibia shaft fracture at our center from 2013 to 2018. The patient demographics, fracture characteristics, radiographic information, length of hospital stay, and medical expenses were recorded. All patients were clinically followed-up until they started to walk or for at least 6 months. The treatment outcomes and postoperative complications of the two procedures were compared. RESULTS: Overall, 186 patients who underwent EIN and CST were included in the study. The EIN patients had more low-energy mechanism of injury. In radiographic evaluation, significant differences were observed in distributions of fracture classification and location. Moreover, associated fibula fractures were higher in the EIN group than in the CST group. The CST procedure had faster surgical time, cast duration and lower expenses, and longer hospitalization time. Although they required more clinical visits, patients in the EIN group began exercising and endured weight-bearing earlier than those in the CST group. The average time for bone healing was 68.5 days in the EIN group, and 69.6 days in the CST group. However, the CST provided slight better results of coronal correction than EIN. Moreover, CST patients had less malalignment (> 5°) in complications. None had delay union, nonunion, and shortening over 10 mm at final assessment. CONCLUSIONS: Both EIN and CST patients showed similar treatment outcomes. Hence, not only the characteristics of the patient and fracture, but also the individual's situation and expectation should be considered when choosing the best approach.


Subject(s)
Fracture Fixation, Intramedullary , Tibial Fractures , Bone Nails , Child , Fracture Healing , Humans , Retrospective Studies , Tibia , Tibial Fractures/diagnostic imaging , Tibial Fractures/surgery , Traction , Treatment Outcome
13.
J Craniofac Surg ; 31(8): 2368-2373, 2020.
Article in English | MEDLINE | ID: mdl-33136893

ABSTRACT

BACKGROUND: Congenital muscular torticollis (CMT) is a common pediatric disease caused by contracture of sternocleidomastoid muscle (SCM) that leads to neck stiffness and deformity. Based on the adhesion characteristics of different cells in affected SCM of CMT, myoblasts and fibroblasts can be isolated simultaneously by advanced culture conditions. Our study aimed to explore and optimize the isolation, culture, and identification of myoblasts and fibroblasts in SCM of CMT. METHODS: Myoblasts and fibroblasts were separated by combined digestion with trypsin and collagenase. With this improved method, the morphology of isolated myoblasts and fibroblasts was observed under the microscope, the cell growth curve was drawn, and the purity of myoblasts and fibroblasts was determined by immunofluorescence. RESULTS: The method allowed to satisfactorily culture myoblasts and fibroblasts. The cells could stably grow and be passaged, provided they were at least 80% confluent. Immunofluorescence of myoblasts and fibroblasts showed high rate of positive staining, and cell count showed excellent growth state. Moreover, according to the growth curve, fibroblasts grew at a higher rate than myoblasts. CONCLUSIONS: The isolated myoblasts and fibroblasts have high purity, intact structure, and relatively high vitality. This method can be used to establish a cell model with myoblasts and fibroblasts, which can be applied to investigate etiology of CMT or mechanisms of drug action.


Subject(s)
Fibroblasts/cytology , Muscular Diseases , Myoblasts/cytology , Torticollis/congenital , Cell Proliferation , Cell Separation , Cells, Cultured , Humans , Infant , Male , Neck Muscles/cytology
14.
Medicine (Baltimore) ; 98(11): e14794, 2019 Mar.
Article in English | MEDLINE | ID: mdl-30882654

ABSTRACT

Congenital muscular torticollis (CMT) is a common musculoskeletal abnormality in children, which has been characterized by unclarified pathological changes in the sternocleidomastoid muscle (SCM) and various hypothetical etiologies. There are 2 main hypothetical etiologies for CMT in the literature: 1 infers that CMT may represent the sequela of an intrauterine or perinatal compartment syndrome, and the other regard CMT as a maldevelopment of the fetal SCM.To better understand the etiopathogenesis of CMT, we screened the necks of 1-day-old newborns that may potentially have CMT for evidence of SCM trauma or tumor.A convenience sample of 2564 full-term (>37 weeks) Chinese neonates were included in this study. All neonates were screened for CMT by physical examination at birth. If CMT was suspected, further ultrasonic and physical examinations were performed. When CMT was confirmed, we provided appropriate interventions and follow-up. The progress and changes in patients with CMT were recorded.Following physical examination, 44 of 2564 neonates were diagnosed with suspected CMT based on obvious facial asymmetry or palpable swelling or mass in the SCM. Among these, ultrasound examination showed 81.8% (36/44) had asymmetry in the thickness of the bilateral SCM. The 36 neonates were followed-up for 6 months; among them, 1 infant developed CMT and 35 showed normal development in bilateral SCM. The 1 patient with CMT underwent regular physiotherapy and recovered with no evidence of recurrence after the final 3 years of follow-up. No neonates suffered from signs of neck trauma, such as hematoma or subcutaneous ecchymosis.There was no evidence of neck trauma in this 1 day old newborn. The pseudotumor of SCM that developed after birth underwent differentiation, maturation, and disappeared as the baby grew. The SCM asymmetry did exist in some of the newborn babies, and became symmetric with the baby's growth. Data from this clinical study and our previous ultra-structural pathological studies suggested that both prenatal and postnatal factors play important roles in CMT. We hypothesized that CMT might be a developmental disease.


Subject(s)
Torticollis/congenital , Female , Humans , Infant, Newborn , Male , Neck Muscles/diagnostic imaging , Neonatal Screening , Torticollis/diagnostic imaging , Ultrasonography
15.
J Pediatr Surg ; 51(10): 1661-4, 2016 Oct.
Article in English | MEDLINE | ID: mdl-27373597

ABSTRACT

BACKGROUND: Biliary atresia (BA) is a major neonatal cholestatic disease and main indication for pediatric liver transplantation in the world. Recently, GPC1 has been implicated as a risk gene for BA by genetic studies and follow-up functional experiments on zebrafish. METHODS: Two common genetic variants of GPC1, rs2292832 and rs3828336, were selected systematically through 'SNPinfo', and were examined using TaqMan Genotyping Assays for association studies in a Chinese population containing 134 cases and 618 controls. RESULTS: Of the two single nucleotide polymorphisms (SNPs), we found a significantly decreased BA risk associated with rs2292832 (additive model: OR=0.638, 95% CI: 0.467-0.873, P=0.005), and a marginal effect for rs3828336 (heterozygous model: OR=0.564, 95% CI: 0.312-1.020, P=0.058). The haplotype analysis indicated that either Crs2292832-Crs3828336&Trs3828336 or Trs2292832-Trs3828336 conferred a protective effect from BA (OR=0.569, 95% CI=0.414-0.783, P<0.001; OR=0.528, 95% CI: 0.301-0.926, P=0.026). Moreover, bioinformatics analysis suggested that rs2292832 altered GPC1 expression via effect on transcription-factor-binding sites (TFBS) of upstream binding transcription factor (UBTF), as a regulatory DNA variation in Deoxyribonuclease I (DNase I) hypersensitive sites (DHSs). CONCLUSION: Common variants of GPC1 gene were genetically involved in BA risk.


Subject(s)
Biliary Atresia/genetics , DNA/genetics , Genetic Predisposition to Disease , Glypicans/genetics , Polymorphism, Single Nucleotide , Biliary Atresia/metabolism , Female , Genotype , Glypicans/metabolism , Haplotypes , Humans , Infant, Newborn , Male , Risk Factors
16.
PLoS One ; 9(10): e107977, 2014.
Article in English | MEDLINE | ID: mdl-25285724

ABSTRACT

BACKGROUND AND OBJECTIVES: Based on the results of previous studies, the ADD3 gene, located in the 10q24.2 region, may be a susceptibility gene of biliary atresia (BA). In this study, two single nucleotide polymorphisms (SNPs) in the ADD3 gene, rs17095355 C/T and rs10509906 G/C, were selected to investigate whether there is an association between these SNPs and susceptibility to BA in a Chinese population. METHODS: A total of 752 Han Chinese (134 BA cases and 618 ethnically matched healthy controls) were included in the present study. The ADD3 gene polymorphisms were genotyped using a TaqMan genotyping assay. RESULTS: Positive associations were found for the SNP rs17095355 in the codominant model; specifically, the frequencies of the CT and TT genotypes and the T allele were higher in the cases than the controls, demonstrating a significant risk for BA (odds ratio [OR] = 1.62, 95% confidence interval [CI] = 1.02-2.58; OR = 2.89, 95% CI = 1.72-4.86; and OR = 1.75, 95% CI = 1.34-2.29, respectively). Regarding rs10509906, the per-C-allele conferred an OR of 0.70 (95% CI = 0.49-1.00) under the additive model. A greater risk of BA was associated with the T(a)-G(b) (a for rs17095355 and b for rs10509906) haplotype (OR = 1.82, 95% CI = 1.27-2.61) compared with the C(a)-C(b) haplotype. CONCLUSION: This study suggests that the ADD3 gene plays an important role in BA pathogenesis and reveals a significant association between two SNPs, rs17095355 and rs10509906, and BA.


Subject(s)
Biliary Atresia/genetics , Calmodulin-Binding Proteins/genetics , Genetic Association Studies , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide/genetics , Asian People/genetics , Case-Control Studies , China , Female , Haplotypes/genetics , Humans , Infant , Male , Risk Factors
17.
J Laparoendosc Adv Surg Tech A ; 24(5): 350-3, 2014 May.
Article in English | MEDLINE | ID: mdl-24446933

ABSTRACT

BACKGROUND: The laparoscopic Kasai operation has been under debate for a long time. In this study, we described our experience in laparoscopic portoenterostomy for biliary atresia SUBJECTS AND METHODS: The operative experience in 25 cases of laparoscopic portoenterostomy for biliary atresia since January 2011 was reviewed. For the procedure, operative cholangiography was first performed for diagnosis. Laparoscopic Kasai portoenterostomy was performed as in the open manner. Electrocoagulation hemostasis was avoided at the porta, where bleeding was controlled with direct compression only. The Roux loop was fashioned outside of the abdominal cavity through the umbilical incision, and portoenterostomy was performed with absorbable sutures. RESULTS: All cases underwent the operation successfully without conversion to open surgery. The average time of operation was 180-285 minutes (mean, 208 minutes), and the blood loss was 15-30 mL. Twenty-two (88%) patients had bile drainage postoperatively as indicated by their stool color. Jaundice was alleviated in 21 (84%) patients, with total bilirubin decreased by a third. Follow-up extended from 3 months to 2 years after the operation. Jaundice had completely subsided in 14 (56%) cases, with a normal level of bilirubin. Seven patients had an initial decrease in bilirubin, but jaundice returned because of cholangitis. Two patients died because their parents refused liver transplantation. Two cases underwent successful liver transplants. CONCLUSIONS: Laparoscopic portoenterostomy for biliary atresia is safe and feasible. It has the advantage of clearer vision, precise operation, and less operative trauma. In our experience, the outcome of this surgery is as good as open surgery if the surgeons are well experienced.


Subject(s)
Biliary Atresia/surgery , Laparoscopy/methods , Portoenterostomy, Hepatic/methods , Biliary Atresia/diagnosis , Child , Child, Preschool , Cholangiography/methods , Cholangitis/etiology , Cholangitis/surgery , Drainage , Female , Follow-Up Studies , Humans , Infant , Laparoscopy/adverse effects , Liver Transplantation , Male , Operative Time , Portoenterostomy, Hepatic/adverse effects , Postoperative Hemorrhage/etiology , Retrospective Studies , Treatment Failure
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