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1.
Altern Ther Health Med ; 29(8): 656-662, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37678871

ABSTRACT

Background: Dry eye disease is common among patients with primary Sjögren's syndrome (pSS). Hydroxychloroquine (HCQ), known for its immunomodulatory effects and minimal adverse effects, has emerged as a pivotal treatment option for pSS. Nonetheless, conflicting evidence exists regarding the therapeutic efficacy of HCQ in managing dry eye disease associated with pSS. Objectives: To evaluate the safety and efficacy of oral hydroxychloroquine in treating dry eye disease associated with pSS. Methods: A prospective randomized controlled study was conducted, enrolling pSS patients with moderate to severe dry eye disease. Participants were randomly assigned to an oral HCQ group and an observation group. Various scales (ESSDAI, ESSPRI, OSDI, and SPEED questionnaire score), dry eye-related tests (OSS score, TBUT, and Schirmer test I), ophthalmology-specific tests (BCVA, SD-OCT RT, field of view, latency and amplitudes for multifocal ERG ring 1 and ring 2), whole body protein levels (serum IgA, IgG, and IgM), and blood glucose were assessed before and after 12 months of treatment. Results: Pairwise comparison of the observed indicator baseline revealed no statistical significance (P > .05). After 12 months, the HCQ group exhibited notable improvements in ESSPRI, serum IgA, and Schirmer test I results compared to the control group (P < .05). Both groups demonstrated significant improvements in BCVA, OSDI, SPEED scores, and dry eye-associated examinations compared to baseline (P < .05). Serum IgG and IgM levels decreased in the HCQ group after 12 months of treatment, but without statistical significance (P > .05). None cases of HCQ retinopathy were reported during follow-up. Conclusions: Oral HCQ was demonstrated safety and efficacy in managing pSS-related dry eye disease. Treatment with Oral HCQ markedly reduced the ESSPRI score, improve patients' systemic dryness symptoms, and greatly decreased blood IgA levels. Combined with topical cyclosporin, HCQ improved Schirmer test I scores and alleviated ocular surface inflammation and dry eye signs and symptoms.


Subject(s)
Dry Eye Syndromes , Sjogren's Syndrome , Humans , Sjogren's Syndrome/complications , Sjogren's Syndrome/drug therapy , Sjogren's Syndrome/diagnosis , Hydroxychloroquine/adverse effects , Prospective Studies , Dry Eye Syndromes/drug therapy , Dry Eye Syndromes/etiology , Immunoglobulin A/therapeutic use , Immunoglobulin G , Immunoglobulin M/therapeutic use
2.
J Surg Res ; 263: 224-229, 2021 07.
Article in English | MEDLINE | ID: mdl-33691245

ABSTRACT

BACKGROUND: More than 50% of patients with palmar hyperhidrosis (PAH) also have plantar hyperhidrosis (PLH). We compared the long-term results of T3 sympathectomy with those of combined T3+T4 sympathectomy among patients with concurrent PAH and PLH. MATERIALS AND METHODS: We retrospectively analyzed the records of patients with concurrent PAH and PLH who underwent T3 alone or T3+T4 sympathectomy from January 1, 2012, to December 31, 2017. Preoperative and postoperative sweating (hyperhidrosis index) was evaluated through questionnaires, physical examination, and outpatient follow-up. The relief rates and hyperhidrosis index were used as outcome measures to compare the efficacy of the two approaches. Patients' satisfaction and side effects were also evaluated. RESULTS: Of the 220 eligible patients, 60 underwent T3 sympathectomy (T3 group), and 160 underwent T3+T4 sympathectomy (T3+T4 group). Compared with the T3 group, the T3+T4 group showed higher symptom relief rates both for PAH (98.75% versus 93.33%, P = 0.048) and PLH (65.63% versus 46.67%, P = 0.01), and a greater postoperative decrease in both hyperhidrosis indices. The rate of severe compensatory hyperhidrosis also increased (10% versus 5%, P = 0.197), although the rates of overall satisfaction were comparable between the groups. The incidence of postoperative pneumothorax requiring chest tube placement and postoperative neuralgia was also similar. There were no cases of perioperative death, secondary operation, wound infection, or Horner syndrome in either group. CONCLUSIONS: Compared with T3 alone, T3+T4 sympathectomy achieved a higher symptom relief rate and a lower hyperhidrosis index. T3+T4 sympathectomy may be a choice for the treatment of concurrent PAH and PLH; however, patients need to be informed that this kind of surgery may increase the risk of compensatory sweating.


Subject(s)
Hyperhidrosis/surgery , Postoperative Complications/epidemiology , Sympathectomy/methods , Thoracic Nerves/surgery , Thoracic Surgery, Video-Assisted/methods , Adolescent , Adult , Female , Follow-Up Studies , Foot/innervation , Hand/innervation , Humans , Hyperhidrosis/diagnosis , Male , Patient Satisfaction , Postoperative Complications/etiology , Severity of Illness Index , Sweat Glands/innervation , Sympathectomy/adverse effects , Treatment Outcome , Young Adult
3.
Pediatr Surg Int ; 36(1): 81-91, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31541279

ABSTRACT

PURPOSE: The roles of commensal bacteria after intestinal ischemia and reperfusion (IIR) are unclear. In current study, we aim to investigate the effects and underlying mechanisms of commensal bacteria in injury and epithelial restitution after IIR. METHODS: Commensal gut bacteria were deleted by broad-spectrum antibiotics in mice. IIR was induced by clamping superior mesenteric artery. Intestinal injury, permeability, epithelial proliferation, and proinflammatory activity of mesenteric lymph were investigated. RESULTS: Commensals deletion improved mice survival in the early phase, but failed to improve the overall survival at 96 h after IIR. Commensals deletion reduced proliferation of intestinal epithelial cells (IEC) and augmented proinflammatory activity of mesenteric lymph after IIR. Lipopolysaccharides (LPS) supplement promoted IEC proliferation and improved survival in mice with commensals deletion after IIR. LPS induced production of prostaglandin E2 (PGE2) in mucosa via toll-like receptor 4-NFκB-cyclooxygenase 2 pathway. PGE2 enhanced IEC proliferation in vivo, which was preceded by activation of Akt and extracellular signal-regulated kinase (ERK) 1/2. Blocking of EGFR, PI3K/Akt activity abolished LPS-induced IEC proliferation. CONCLUSIONS: Commensal bacteria are essential for epithelial restitution after IIR, which enhance IEC proliferation via induction of PGE2.


Subject(s)
Intestines/microbiology , Ischemia/microbiology , Reperfusion Injury/microbiology , Animals , Anti-Bacterial Agents/pharmacology , Cell Proliferation , Dinoprostone/metabolism , Epithelial Cells/physiology , Intestinal Mucosa/metabolism , Intestines/blood supply , Intestines/cytology , Lipopolysaccharides/pharmacology , Mice , Mice, Inbred C57BL , Mice, Knockout , Reperfusion Injury/metabolism
4.
Pediatr Emerg Care ; 33(9): 630-634, 2017 Sep.
Article in English | MEDLINE | ID: mdl-26414638

ABSTRACT

OBJECTIVE: The aim of the study was to evaluate the effectiveness of SimBaby plus standardized patient (SP) teaching model in the simulation teaching of acute and severe bronchopneumonia in infancy. METHODS: A total of 40 students majoring in clinical medicine were assigned to either group A (SimBaby group, n = 20) or group B (SP + SimBaby group, n = 20). Medical students' expertise and their ability to apply the expertise on acute and severe bronchopneumonia in infancy were assessed using a scoring method, and the impact of the teaching model of SimBaby plus SP on medical students' comprehensive clinical capacity was assessed using a questionnaire. RESULTS: The SimBaby plus SP teaching model resulted in medical students' improvement in mastery and application of the knowledge on diagnostic accuracy, airway management, endotracheal intubation, and cardiac massage, enhancement of learning interest, learning initiative, and enthusiasm, as well as abilities in assessment of information, meta-analysis, linguistic organization and expression, communication, and clinical thinking. CONCLUSIONS: The SimBaby plus SP teaching model provided students with a real simulation-based teaching case of "interrogation-physical examination-operating practices" achieving satisfactory teaching outcome and also provided a reference case example for clinical teaching of other pediatric diseases.


Subject(s)
Bronchopneumonia/diagnosis , Education, Medical/methods , Patient Simulation , Students, Medical/statistics & numerical data , Acute Disease , Bronchopneumonia/therapy , China/epidemiology , Clinical Competence/standards , Disease Management , Educational Measurement/methods , Heart Massage/methods , Humans , Intubation, Intratracheal/methods , Learning/ethics , Physical Examination/methods
5.
Anticancer Drugs ; 27(1): 60-5, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26375684

ABSTRACT

The aim of this research was to study the pharmacokinetic characteristics of a slow-release 5-fluorouracil implant as well as to evaluate the clinical drug activity of this preparation in pancreatic cancer patients. Pharmacokinetic characteristics of the slow-release 5-fluorouracil implant were evaluated by examining the half-life time (T1/2) and apparent volume of distribution (Vd) in pancreatic cancer patients; the slow-release 5-fluorouracil implant was administered through interstitial chemotherapy (tumor interstitium implantation). In the drug activity study, 36 locally advanced unresectable pancreatic cancer patients were divided randomly into an experimental treatment group (n=18) and a standard treatment group (n=18). The experimental treatment group was treated with interstitial chemotherapy of a slow-release 5-fluorouracil implant combined with systemic chemotherapy of gemcitabine; the standard treatment group was treated with systemic chemotherapy of gemcitabine. An internal drainage procedure was used when biliary and/or gastrointestinal tract obstruction occurred in the two groups. Clinical benefit response, including pain (visual analogue scale), analgesic drug use, general conditions (Karnofsky performance score), weight changes, and survival status, was observed. T1/2 of the slow-release 5-fluorouracil implant was 5475.8±136.4 min, whereas Vd was 45275.0±1028.6 l. Clinical benefit response in the experimental treatment group was better than that in the standard treatment group. The experimental treatment group had longer median survival time compared with the standard treatment group. The slow-release 5-fluorouracil implant could deliver drugs mainly in the regional area of the tumor and prolong the drug action time; interstitial chemotherapy of a 5-fluorouracil implant combined with systemic chemotherapy of gemcitabine could improve the quality of life and survival status of pancreatic cancer patients. The method was promising and worthy of in-depth investigations.


Subject(s)
Antineoplastic Agents/pharmacokinetics , Fluorouracil/pharmacokinetics , Pancreatic Neoplasms/drug therapy , Antineoplastic Agents/administration & dosage , Drug Implants , Female , Fluorouracil/administration & dosage , Humans , Male , Middle Aged , Survival Analysis
6.
World J Gastroenterol ; 30(25): 3132-3139, 2024 Jul 07.
Article in English | MEDLINE | ID: mdl-39006380

ABSTRACT

In this editorial, we comment on the article by Chen et al. Metabolic dysfunction-associated fatty liver disease (MAFLD) is a global public health burden whose incidence has risen concurrently with overweight and obesity. Given its detrimental health impact, early identification of at-risk individuals is crucial. MAFLD diagnosis is based on evidence of hepatic steatosis indicated by liver biopsy, imaging, or blood biomarkers, and one of the following conditions: Overweight/ obesity, type 2 diabetes mellitus, or metabolic dysregulation. However, in large-scale epidemiological studies, liver biopsies are not feasible. The application of techniques such as ultrasonography, computed tomography, magnetic resonance imaging, and magnetic resonance spectroscopy is restricted by their limited sensitivity, low effectiveness, high costs, and need for specialized software. Blood biomarkers offer several advantages, particularly in large-scale epidemiological studies or clinical scenarios where traditional imaging techniques are impractical. Analysis of cumulative effects of excess high-normal blood alanine aminotransferase (ALT) levels of blood ALT levels could facilitate identification of at-risk patients who might not be detected through conventional imaging methods. Accordingly, investigating the utility of blood biomarkers in MAFLD should enhance early detection and monitoring, enabling timely intervention and management and improving patient outcomes.


Subject(s)
Alanine Transaminase , Biomarkers , Humans , Biomarkers/blood , Alanine Transaminase/blood , Liver/diagnostic imaging , Liver/pathology , Non-alcoholic Fatty Liver Disease/diagnosis , Non-alcoholic Fatty Liver Disease/blood , Non-alcoholic Fatty Liver Disease/epidemiology , Risk Factors , Obesity/complications , Obesity/diagnosis , Obesity/blood , Diabetes Mellitus, Type 2/blood , Diabetes Mellitus, Type 2/diagnosis , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/epidemiology , Early Diagnosis
7.
J Virol ; 86(19): 10895, 2012 Oct.
Article in English | MEDLINE | ID: mdl-22966188

ABSTRACT

We report here the complete genomic sequence of a novel porcine circovirus type 2 (PCV2) strain, which is supposed to be the result of natural genetic recombination between the ORF1 gene of genotype PCV2b-1B and the ORF2 gene of PCV2b-1C. Further analyses revealed that this novel PCV2 strain arose from recombination between PCV2a and PCV2b strains within the ORF2 gene. To our knowledge, this is the first report of both inter- and intragenotype PCV2 gene rearrangement in the field, and it will help in understanding the epidemiology and molecular characteristics of porcine circovirus type 2(PCV2) in southern China.


Subject(s)
Circovirus/genetics , Genome, Viral , Animals , Capsid/chemistry , China , Circoviridae Infections/virology , Genomics , Genotype , Molecular Sequence Data , Open Reading Frames , Sequence Analysis, DNA , Swine
8.
J Virol ; 86(18): 10247, 2012 Sep.
Article in English | MEDLINE | ID: mdl-22923805

ABSTRACT

We report here the complete genomic sequence of a novel duck hepatitis A virus (DHAV) isolated from mixed infections with DHAV type 1 (DHAV-1) and DHAV-3 in ducklings in Southern China. The whole nucleotide sequence had the highest homology with the sequence of DHAV-3 (GenBank accession number DQ812093) (96.2%). To our knowledge, this is the first report of gene rearrangement between DHAV-1 and DHAV-3, and it will help to understand the epidemiology and molecular characteristics of duck hepatitis A virus in Southern China.


Subject(s)
Hepatitis Virus, Duck/genetics , Reassortant Viruses/genetics , Animals , China , Ducks/virology , Gene Rearrangement , Genome, Viral , Hepatitis Virus, Duck/classification , Hepatitis Virus, Duck/isolation & purification , Hepatitis, Viral, Animal/virology , Molecular Sequence Data , Picornaviridae Infections/veterinary , Picornaviridae Infections/virology , Reassortant Viruses/classification , Reassortant Viruses/isolation & purification
9.
J Virol ; 86(17): 9533, 2012 Sep.
Article in English | MEDLINE | ID: mdl-22879607

ABSTRACT

We report here the complete genomic sequence of a novel avian-like H3N2 swine influenza virus containing an H5N1 highly pathogenic avian influenza virus segment that was obtained from swine in southern China. Phylogenetic analysis indicated that this virus might originate from domestic aquatic birds. The sequence information provided herein suggests that continuing study is required to determine if this virus can be established in the swine population and pose potential threats to public health.


Subject(s)
Genome, Viral , Influenza A Virus, H3N2 Subtype/genetics , Influenza A Virus, H3N2 Subtype/isolation & purification , Influenza in Birds/virology , Orthomyxoviridae Infections/veterinary , Swine Diseases/virology , Animals , Base Sequence , Birds , China , Influenza A Virus, H3N2 Subtype/classification , Molecular Sequence Data , Orthomyxoviridae Infections/virology , Phylogeny , Swine
10.
Int J Colorectal Dis ; 28(5): 689-96, 2013 May.
Article in English | MEDLINE | ID: mdl-23568714

ABSTRACT

PURPOSE: To create a simple diagnostic scoring system to differentiate Hirschsprung's disease (HD) from Hirschsprung's disease-allied disorders (HAD) in patients with suspected intestinal dysganglionosis (IDs). METHODS: Between 1998 and 2008, 967 patients with suspected intestinal dysganglionosis underwent surgical treatment at the pediatric surgery department of Tongji Hospital. The diagnosis of HD or HAD was confirmed by postoperative pathological examination. All patients underwent preoperative work-up including barium enema, anorectal manometry, and histochemical acetylcholinesterase staining of rectal mucosa. Known risk factors for IDs were recorded. The predicting score was calculated by summing the scores of the risk factors and three preoperative tests. The sensitivity, specificity, accuracy, positive predictive values, negative predictive values, positive likelihood ratios, and negative likelihood ratios of the predicting score were calculated. The cutoff score for predicting HD was determined using receiver operating characteristic (ROC) analysis. The accuracy of the predicting score was measured by the area under the ROC curve. RESULTS: Failed or delayed passage of meconium, age <3 years and male gender were risk factors associated with HD. The area under the ROC curve of the predicting score was 0.927 (95 % confidence interval, 0.910-0.944). A predicting score of more than 5 was used as a cutoff for predicting HD. The scoring system achieved 83.1 % sensitivity, 89.5 % specificity, and 85.9 % accuracy in predicting HD. CONCLUSION: Patients with a predicting score of more than 5 are more likely to be diagnosed with HD, whereas a score less than 5 are mostly indicative of HAD.


Subject(s)
Ganglia/pathology , Hirschsprung Disease/complications , Hirschsprung Disease/diagnosis , Research Design , Area Under Curve , Child, Preschool , Demography , Diagnosis, Differential , Diagnostic Tests, Routine , Female , Humans , Infant , Infant, Newborn , Male , ROC Curve
11.
World J Pediatr ; 19(7): 644-651, 2023 Jul.
Article in English | MEDLINE | ID: mdl-36857021

ABSTRACT

BACKGROUND: Hirschsprung's disease (HSCR) is one of the most common congenital digestive tract malformations and can cause stubborn constipation or gastrointestinal obstruction after birth, causing great physical and mental pain to patients and their families. Studies have shown that more than 20 genes are involved in HSCR, and most cases of HSCR are sporadic. However, the overall rate of familial recurrence in 4331 cases of HSCR is about 7.6%. Furthermore, familial HSCR patients show incomplete dominance. We still do not know the penetrance and genetic characteristics of these known risk genes due to the rarity of HSCR families. METHODS: To find published references, we used the title/abstract terms "Hirschsprung" and "familial" in the PubMed database and the MeSH terms "Hirschsprung" and "familial" in Web of Science. Finally, we summarized 129 HSCR families over the last 40 years. RESULTS: The male-to-female ratio and the percentage of short segment-HSCR in familial HSCR are much lower than in sporadic HSCR. The primary gene factors in the syndromic families are ret proto-oncogene (RET) and endothelin B receptor gene (EDNRB). Most families show incomplete dominance and are relevant to RET, and the RET mutation has 56% penetrance in familial HSCR. When one of the parents is a RET mutation carrier in an HSCR family, the offspring's recurrence risk is 28%, and the incidence of the offspring does not depend on whether the parent suffers from HSCR. CONCLUSION: Our findings will help HSCR patients obtain better genetic counseling, calculate the risk of recurrence, and provide new insights for future pedigree studies.


Subject(s)
Hirschsprung Disease , Humans , Male , Female , Hirschsprung Disease/genetics , Proto-Oncogene Proteins c-ret/genetics , Mutation , Pedigree
12.
Front Aging Neurosci ; 14: 887094, 2022.
Article in English | MEDLINE | ID: mdl-35754956

ABSTRACT

Backgrounds: Sleep disorders are the most common and disabling symptoms in patients with Parkinson's disease (PD). Understanding the associations between sleep characteristics and motor and non-motor symptoms (NMSs) in PD can provide evidence to guide therapeutic interventions and nursing strategies. We aimed to investigate the association between sleep characteristics and motor function and NMSs in PD using multiple approaches. Methods: A total of 328 participants were included, and all participants underwent Pittsburgh Sleep Quality Index (PSQI) evaluation and clinical assessments of PD symptoms. We conducted Spearman's correlation to evaluate the associations between sleep and PD symptoms, nonlinear regression to assess the relationships between sleep habits and PD, and mediated analyses to test the effects of NMSs on global PSQI and PD severity, quality of life, and motor symptoms. Results: Poor sleep was associated with more severe PD symptoms. In addition, the reflection point for bedtime was around 21:52, associated with motor symptoms, and insufficient and excessive total time spent in bed and nocturnal sleep duration were correlated with higher NMS burdens. The optimal points were 8-9.2 and 6.2-6.9 h, respectively. It was also discovered that NMSs played the mediating roles in global sleep with the quality of life, PD stages, and motor symptoms to a varying range of 6.8-95.4%. Conclusions: Sleep disorders have a significant effect on the burden of PD symptoms. The current findings provide new insights into the monitoring and management of sleep and PD and need to be further explored in the future studies.

13.
Cancer Invest ; 29(4): 286-92, 2011 May.
Article in English | MEDLINE | ID: mdl-21469977

ABSTRACT

A higher expression of S-100 in tissue of thyroid papillary carcinoma (TPC) vs. thyroid follicular adenoma (TFA) (p < .001) was observed as well as a higher expression of CD83 in the peri-cancerous tissues vs. TFA (p < .001), oppositely, CD83 was negative in the cancerous net. TPC showed greater decreases in levels of CD80 and CD86 than did the TFA. These findings suggest that impaired immune function, absence of CD83-positive mature and activated dendritic cells in cancer nodules may have a role in the pathogenesis of TPC. The low expression of CD80 and CD86 in TPC may help them evade the immune system.


Subject(s)
Adenoma/immunology , Antigens, CD/metabolism , B7-1 Antigen/metabolism , B7-2 Antigen/metabolism , Dendritic Cells/immunology , Immunoglobulins/metabolism , Membrane Glycoproteins/metabolism , S100 Proteins/metabolism , Adult , Aged , Carcinoma , Carcinoma, Papillary , Case-Control Studies , Cells, Cultured , Female , Humans , Immunohistochemistry , Middle Aged , Thyroid Cancer, Papillary , Thyroid Neoplasms/immunology , Time Factors , Tumor Escape , CD83 Antigen
14.
Aging (Albany NY) ; 13(7): 9253-9264, 2021 04 03.
Article in English | MEDLINE | ID: mdl-33811756

ABSTRACT

This study analyzed the effect of Arbidol, a broad-spectrum antiviral compound, on the outcomes of COVID-19 patients. Records of 252 COVID-19 patients were retrospectively analyzed from February 13 to February 29, 2020 in 4 inpatient wards in the Cancer Center, Union Hospital, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China. The rate of clinical improvement was significantly greater among patients treated with Arbidol than among those who did not receive Arbidol (86.8% vs. 54.2%). In moderately and severely ill patients, the clinical improvement rates in the Arbidol group were 95.6% and 81.7%, respectively, which was significantly higher than in the no-Arbidol group (66.6% and 53.8%). Among critically ill patients, however, there was no significant difference. The levels of hypersensitive C-reactive protein, lactate dehydrogenase, D-dimer, IL-6, and IL-10 were increased in non-improved patients but declined during treatment in the improved patients. This suggests these mediators are associated with the disease severity and could potentially serve as prognostic markers. Moreover, our data demonstrate that Arbidol is effective in the treatment of COVID-19 patients and may serve as a cost-effective antiviral treatment strategy for patients with moderate to severe COVID-19 symptoms.


Subject(s)
Antiviral Agents/therapeutic use , COVID-19 Drug Treatment , Indoles/therapeutic use , Aged , COVID-19/blood , COVID-19/epidemiology , China/epidemiology , Female , Fibrin Fibrinogen Degradation Products/analysis , Humans , Male , Middle Aged , Retrospective Studies , SARS-CoV-2/drug effects , Treatment Outcome
15.
Front Endocrinol (Lausanne) ; 12: 677245, 2021.
Article in English | MEDLINE | ID: mdl-34456858

ABSTRACT

Background: Various factors are discovered in the development of clinodactyly. The purpose of this retrospective study was to present a group of children with a rare clinodactyly deformity caused by phalangeal intra-articular osteochondroma and evaluate the efficacy of various treatment methods. Methods: All child patients that were treated for finger problems in our center between Jan 2017 and Dec 2020 were reviewed. A detailed analysis was made of the diagnosis and treatment methods in eight rare cases. X-rays and histopathology were applied. Results: A preliminary analysis of 405 patients in total was performed, and we included eight cases in our final analysis. This cohort consisted of 2 girls and 6 boys, with a mean age of 5.74 ± 3.22 years (range: 2y5m to 11y). Overall, four patients had their right hand affected and four patients had their left hand affected. One patient was diagnosed as having hereditary multiple osteochondroma (HMO) while the other seven patients were all grouped into solitary osteochondroma. Osteochondroma was proven in all of them by histopathology examination. Preoperative X-rays were used to allow identification and surgery planning in all cases. All osteochondromas were intra-articular and in the distal end of the phalanges, which is located opposite the epiphyseal growth area. All of the osteochondromas developed in half side of the phalanges. The angulation in the finger long axis was measured, and resulted in a mean angulation of 34.63 ± 24.93 degree (range: 10.16-88.91 degree). All of them received surgery, resulting in good appearance and fingers straightening. No recurrence was recorded. Conclusions: This retrospective analysis indicates that 10 degrees can be selected as the angulation level for diagnosis of clinodactyly deformities. What's more important, the abnormal mass proven by X-rays should be included as the classical direct sign for diagnosis. The first choice of treatment is surgery in symptomatic osteochondromas.


Subject(s)
Bone Neoplasms/complications , Finger Phalanges/abnormalities , Hand Deformities, Acquired/etiology , Osteochondroma/complications , Bone Neoplasms/pathology , Child , Child, Preschool , Female , Finger Phalanges/pathology , Hand Deformities, Acquired/pathology , Humans , Male , Osteochondroma/pathology , Retrospective Studies
16.
Front Genet ; 12: 684905, 2021.
Article in English | MEDLINE | ID: mdl-34484289

ABSTRACT

Background: Diaphyseal and metaphyseal modeling defects lead to severe changes in bone mass and shape, which are common features in osteoporosis that linked to non-vertebral fractures. Original mechanism of diaphyseal and metaphyseal modeling defects has proved elusive. Studying rare syndromes can elucidate mechanisms of common disorders and identify potential therapeutic targets. Methods: We evaluated a family pedigree with craniometadiaphyseal dysplasia (CRMDD, OMIM 269300), a genetic disorder that is characterized by cortical-bone thinning, limb deformity, and absent of normal metaphyseal flaring and diaphyseal constriction. Systemic radiographic examination and serum hormone test were made for this rare disease. One patient and her two normal parents were examined by means of whole-exome sequencing (WES) to identify the candidate pathogenic gene and rule out mucopolysaccharidosis and Prader-Willi Syndrome by means of Sanger sequencing. Results: There are several conspicuous radiographic characteristics: (1) bullet-shaped phalanges, (2) long and narrow pelvic inlet, absent of supra-acetabular constriction, (3) round rod-shaped long tubular bones, (4) prominent aiploic mastoid, (5) bending-shaped limb, genua varus and genu varum, and (6) congenital dislocation of elbow. Here, we did not find any wormian bones, and there are several typical clinical characteristics: (1) macrocephaly and wide jaw, (2) Avatar elf-shaped ears, pointed and protruding ears, (3) hypertrophy of limbs, (4) flat feet and giant hand phenomenon, (5) nail dystrophy, (6) limb deformity, (7) high-arched palate, (8) superficial hemangiomas, (9) tall stature, and intellectual disability. In this patient, we found biallelic frameshift deletion mutations in WRAP53, and those two mutations were transmitted from her parents respectively. Conclusions: We describe her clinical and radiological findings and presented a new subtype without wormian bones and with a tall stature. Our study showed that craniometadiaphyseal dysplasia was caused by a deficiency of WRAP53 with autosomal recessive inheritance.

17.
Int J Immunopathol Pharmacol ; 35: 20587384211048562, 2021.
Article in English | MEDLINE | ID: mdl-34796753

ABSTRACT

OBJECTIVE: Being overweight is associated with an increased risk of diabetes mellitus, hypertension, and cardiovascular disease. Lipoprotein-associated phospholipase A2 (Lp-PLA2) can independently predict the risk of cardiovascular disease. This study is aimed to investigate whether Lp-PLA2 was associated with an overweight status. METHODS: This was a cross-sectional study that enrolled 3760 Chinese adults (age, 18-50 years) who underwent medical examination department of Xiamen Chang-Gung Hospital (XCGH) from 2018 to 2020. To explore the distribution of overweight classifications in the Chinese population, we evaluated the correlation of the overweight status with Lp-PLA2, after correcting for possible influencing factors. RESULTS: The Lp-PLA2 level was greater in male than in female subjects (p < 0.001). Subjects with a central overweight status had a greater Lp-PLA2 level than those with normal weight and a peripheral overweight status, in both male and female cohorts. The Lp-PLA2 level was significantly greater in those with additional comorbidities (namely diabetes mellitus (DM), hypertension (HTN), overweight, and metabolic syndrome (MetS)). The age-adjusted and LDL-adjusted Lp-PLA2 level also was significantly higher in the DM (+) and HTN (-) subgroups than in the DM (-), HTN (-), DM (-), and HTN (+) subgroups. CONCLUSION: Lp-PLA2 is associated with sex, central overweight status, diabetes, hypertension, and MetS in adults aged < 50 years and the age-adjusted and LDL-adjusted Lp-PLA2 was significantly higher in the DM (+) and HTN (-) subgroups than in the DM (-) and HTN (-) and DM (-) and HTN (+) subgroups.


Subject(s)
1-Alkyl-2-acetylglycerophosphocholine Esterase/blood , Diabetes Mellitus , Hypertension , Metabolic Syndrome , Obesity, Abdominal , Adult , Body Mass Index , China/epidemiology , Comorbidity , Cross-Sectional Studies , Diabetes Mellitus/diagnosis , Diabetes Mellitus/epidemiology , Female , Heart Disease Risk Factors , Humans , Hypertension/diagnosis , Hypertension/epidemiology , Male , Metabolic Syndrome/diagnosis , Metabolic Syndrome/epidemiology , Obesity, Abdominal/blood , Obesity, Abdominal/diagnosis , Obesity, Abdominal/epidemiology , Risk Assessment , Risk Factors , Sex Factors
18.
Pediatr Surg Int ; 26(9): 899-905, 2010 Sep.
Article in English | MEDLINE | ID: mdl-20686896

ABSTRACT

OBJECTIVE: To study the expression of inducible nitric oxide synthase (iNOS) and its related regulators in biliary atresia (BA) livers and exlpore their relationships with the inflammation pathway in BA livers. METHOD: The iNOS expression in livers of 38 cases of BA children, 15 cases of neonatal cholestasis (NC) children, and 18 cases of normal control were, respectively, examined and total nitric oxide (NO) metabolites concentration of all samples were calculated by a colorimetric method based on Griess reaction. The TdT-mediated dupt biotin nick end labeling (TUNEL) method was used to label the apoptotic bile duct epithelial cells and hepatocytes. The western blotting and immunohistochemistry methods to semi-quantitatively analyze the nuclear factor-kappaB (NF-kappaB) expression of each group were also used. RESULTS: The iNOS expression intensity and total NO metabolites concentration of BA group (0.30 +/- 0.08, 90.40 +/- 12.46 micromol/L) were significantly higher than those of NC and normal control groups, P < 0.01. Correlation analysis showed a strong positive correlation between the serum AST level (152.76 +/- 29.59 U/L) and total NO metabolites concentration in BA group. Compared with the NC (32.47 +/- 5.55) and normal control (20.72 +/- 5.63) groups, a significantly higher apoptosis rate of intrahepatic bile duct epithelial cells was found in BA group (54.00 +/- 11.67) that tightly correlated with the iNOS intensity (r = 0.99, P < 0.01). The NF-kappaB intensity of BA group was also significantly higher than that of NC and normal control groups and had a strong positive correlation with the iNOS intensity (r = 0.97, P < 0.01). CONCLUSION: The abnormal hyper-expression of iNOS may play an important role in mediating the inflammation procedure in BA livers. This change perhaps has some relationship with the high expression of NF-kappaB and NO. These regulators can up-regulate the apoptosis of bile duct epithelial cells in BA livers and cause the damage to liver tissues.


Subject(s)
Biliary Atresia/metabolism , Inflammation/metabolism , Liver/metabolism , NF-kappa B/metabolism , Nitric Oxide Synthase Type II/metabolism , Nitric Oxide/metabolism , Apoptosis , Aspartate Aminotransferases/blood , Bile Ducts, Intrahepatic/pathology , Biliary Atresia/pathology , Blotting, Western , Case-Control Studies , Colorimetry , Epithelial Cells/pathology , Female , Hepatocytes/metabolism , Humans , Immunohistochemistry , In Situ Nick-End Labeling , Infant , Liver/pathology , Male
19.
Mitochondrial DNA B Resour ; 5(3): 2533-2534, 2020 Jun 22.
Article in English | MEDLINE | ID: mdl-33457852

ABSTRACT

Wrightia laevis Hook. f. is a great tree of Apocynaceae. It is mainly distributed in Southeast provinces of China and Southeast Asian countries. It is a plant that combines dyestuff and economic value. There is no study on the genome of W. laevisso far. Here we report and characterize the complete plastid genome sequence of W. laevis in order to provide genomic resources useful for promoting its conservation. The complete chloroplast genome of W. laevis is 155,274 bp in length with a typical quadripartite structure, consisting of a large single-copy region (LSC, 85,463 bp), a single-copy region (SSC, 18,181 bp) and a pair of inverted repeats (IRs, 25,815 bp). There are 133 genes annotated, including 88 unique protein-coding genes, 8 unique ribosomal RNA genes, and 37 transfer RNA genes. The overall G/C content in the plastome of W. laevis is 38.05%. The complete plastome sequence of W. laevis will provide a useful resource for the conservation genetics of this species as well as for phylogenetic studies in Apocynaceae.

20.
Mitochondrial DNA B Resour ; 5(3): 2535-2536, 2020 Jun 22.
Article in English | MEDLINE | ID: mdl-33457853

ABSTRACT

Caesalpinia sappan Linnaeus is a great tree of Fabaceae. It is mainly distributed in the Southern provinces of China and Southeast Asian countries. It can be used to extract dyes. The heartwood has dyestuff and medicinal value. There is no study on the genome of C. sappan so far. Here, we report and characterize the complete plastid genome sequence of C. sappan in an order to provide genomic resources useful for promoting its conservation. The complete chloroplast genome of C. sappan is 160,176 bp in length with a typical quadripartite structure, consisting of a large single-copy region (LSC, 89,710 bp), a single-copy region (SSC, 18,357 bp), and a pair of inverted repeats (IRs, 26,054 bp). There are 129 genes annotated, including 84 unique protein-coding genes, eight unique ribosomal RNA genes, and 37 transfer RNA genes. The overall G/C content in the plastome of C. sappan is 36.0%. The complete plastome sequence of C. sappan will provide a useful resource for the conservation genetics of this species as well as for phylogenetic studies in Apocynaceae.

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