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1.
J Assist Reprod Genet ; 39(3): 695-710, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35066699

RESUMO

PURPOSE: Premature ovarian insufficiency (POI) is a heterogeneous disorder characterized by the cessation of menstrual cycles before the age of 40 years due to the depletion or dysfunction of the ovarian follicles. POI is a highly heterogeneous disease in terms of etiology. The aim of this study is to reveal the genetic etiology in POI patients. METHODS: A total of 35 patients (mean age: 27.2 years) from 28 different families diagnosed with POI were included in the study. Karyotype, FMR1 premutation analysis, single nucleotide polymorphism (SNP) array, and whole-exome sequencing (WES) were conducted to determine the genetic etiology of patients. RESULTS: A total of 35 patients with POI were first evaluated by karyotype analysis, and chromosomal anomaly was detected in three (8.5%) and FMR1 premutation was detected in six patients (17%) from two different families. A total of 29 patients without FMR1 premutation were included in the SNP array analysis, and one patient had a 337-kb deletion in the chromosome 6q26 region including PARK2 gene, which was thought to be associated with POI. Twenty-nine cases included in SNP array analysis were evaluated simultaneously with WES analysis, and genetic variant was detected in 55.1% (16/29). CONCLUSION: In the present study, rare novel variants were identified in genes known to be associated with POI, which contribute to the mutation spectrum. The effects of detected novel genes and variations on different pathways such as gonadal development, meiosis and DNA repair, or metabolism need to be investigated by experimental studies. Molecular etiology allows accurate genetic counseling to the patient and family as well as fertility planning.


Assuntos
Insuficiência Ovariana Primária , Adulto , Aberrações Cromossômicas , Feminino , Proteína do X Frágil da Deficiência Intelectual/genética , Humanos , Cariotipagem , Mutação/genética , Insuficiência Ovariana Primária/diagnóstico , Insuficiência Ovariana Primária/genética , Sequenciamento do Exoma
2.
J Trop Pediatr ; 69(1)2022 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-36548396

RESUMO

OBJECTIVE: This study aimed to determine whether parental vaccination against coronavirus disease 2019 (COVID-19) prevents hospitalization of COVID-19-infected children. METHODS: This study was based on data obtained from the records of pediatric patients that were followed up for virologically proven COVID-19 infection between August and October 2021, during which time the delta variant was dominant in Turkey and the children were isolating at home. RESULTS: There were 151 patients in the inpatient group and 218 in the outpatient group; the mean age was 172.5 and 145.5 months in the groups, respectively. The rates of obesity (22.5% and 6.4%, respectively, p < 0.001) and neurological-neurodevelopmental disorders (8.6% and 1.4%, respectively, p < 0.001) were significantly higher in the inpatient group than in the outpatient group. Of the outpatients' parents, 67.4% (n = 147) were fully vaccinated vs. 38.4% (n = 58) in the inpatient group. In all, 39.7% (n = 60) of the inpatients' parents were unvaccinated vs. 18.3% (n = 40) in the outpatient group. There was a significant correlation between the vaccination status and the patient groups (p < 0.001); it was determined that the COVID-19 infection would be mild in children if both parents were fully vaccinated. When both parents were fully vaccinated against COVID-19, the hospitalization rate decreased and the outpatient follow-up rate increased. CONCLUSION: Having both parents fully vaccinated against COVID-19 can indirectly protect their subsequently infected children from hospitalization and the long-term effects of infection. Nonetheless, more comprehensive research on delta and non-delta variants is needed.


Assuntos
COVID-19 , Humanos , Criança , COVID-19/epidemiologia , COVID-19/prevenção & controle , SARS-CoV-2 , Pacientes Ambulatoriais , Hospitalização , Vacinação
3.
J Orthop Sci ; 27(4): 887-891, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34144881

RESUMO

BACKROUND: Implant removal (IR) surgery is one of the most frequent procedures in orthopedic practice. Many of the IR surgeries result from patient request rather than a medical necessity. The purpose of the study was to investigate the association between the level of anxiety, type of temperament and psychopathological status, and the willingness to receive IR surgery in asymptomatic or mildly symptomatic patients. We also aimed to compare pre- and postoperative pain scores and document the complication rates after IR surgery. METHODS: The patients who received tibia intramedullary nailing after tibia diaphyseal fracture with a minimum of 18 months follow-up were included in the study. A total of 246 asymptomatic or mildly symptomatic patients were evaluated, and all patients received detailed oral and written information about the risks of IR surgery. The patients who wished to receive IR surgery were called Group 1 (N = 104), and the patients who did not wish to have surgery were called Group 2 (N = 146). All patients were referred to a psychologist to complete the Beck anxiety inventory (BAI), Symptom checklist-90-R (SCL-R-90), and the Temperament Evaluation of Memphis, Pisa, and San Diego Autoquestionnaire (TEMPS-A). RESULTS: The mean age of the patients was 32.31 ± 9.56. One hundred thirteen (45.9%) of the patients were male, and 133 were female (54%). Mean BAI and SCL-90-R were higher in Group 1 than Group 2 (P = 0.001). Anxious and irritable temperament was higher in Group 1 (P = 0.045 and P = 0.035 respectively), and non-dominant and hyperthymic temperament was higher in Group 2 (P = 0.02 and P = 0.04 respectively). CONCLUSIONS: The level of anxiety and type of temperament is associated with the willingness to receive implant removal surgery in asymptomatic or mildly symptomatic patients. Measures to reduce anxiety levels may reduce the rate of unnecessary implant removal surgeries, associated patient care costs, and potential complications.


Assuntos
Fixação Intramedular de Fraturas , Temperamento , Ansiedade/diagnóstico , Ansiedade/etiologia , Feminino , Humanos , Masculino , Inquéritos e Questionários , Tíbia
4.
J Hum Genet ; 66(11): 1113-1119, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34050257

RESUMO

CES (Clinical Exome Sequencing) is a method that we use to diagnose rare diseases with nonspesific clinical features. Besides primary indication for testing genetic information may be detected about diseases which have not yet emerged. ACMG guidelines recommend to report pathogenic variations in medically actionable 59 genes. In this study we evaluated CES data of 622 cases which were tested for various indications. According to ACMG recommendations 59 genes were screened for reportable variations. The detected variations were reviewed using distinct databases and ACMG variation classification guidelines. Among 622 cases 13 (2.1%) had reportable variations including oncogenetic, cardiogenetic disorders, and malignant hyperthermia susceptibility-related genes. In 15 cases (2.4%) heterozygous pathogenic and likely pathogenic variations were detected in genes showing autosomal recessive inheritance. Ten novel variations causing truncated protein or splicing defect were reported. We detected 11 variations having conflicting interpretations in databases and 30 novel variations, predicted as likely pathogenic via insilico analysis tools which further evaluations are needed. As to our knowledge this is the first study investigating secondary findings in Turkish population. To extract the information that may lead to prevent severe morbidities and mortalities from big data is a valuable and lifesaving effort. Results of this study will contrbute to existing knowledge about secondary findings in exome sequencing and will be a pioneer for studies in Turkish population.


Assuntos
Sequenciamento do Exoma , Testes Genéticos , Genômica , Doenças Raras/diagnóstico , Bases de Dados Genéticas , Exoma/genética , Feminino , Predisposição Genética para Doença , Variação Genética/genética , Humanos , Masculino , Mutação/genética , Doenças Raras/epidemiologia , Doenças Raras/genética , Turquia/epidemiologia
5.
J Shoulder Elbow Surg ; 30(7): 1572-1580, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33038498

RESUMO

BACKGROUND: Few studies have specifically evaluated the development of cuff-tear arthropathy (CTA) after a rotator cuff repair in the postoperative early to mid-term. This study aimed to identify the factors associated with the development of CTA, to evaluate the effect of arthropathy on functional outcomes, and to evaluate the incidence of CTA 3-10 years after an arthroscopic rotator cuff repair. METHODS: A total of 312 patients who underwent an arthroscopic repair of a large or massive full-thickness rotator cuff tear with a minimum follow-up of 3 years were retrospectively divided into 2 groups for analysis: those with postrepair CTA (arthritic glenohumeral changes due to rotator cuff insufficiency) and those without. CTA was assessed using the Seebauer and modified Hamada-Fukuda classification systems. Pre-, intra-, and postoperative patient characteristics; characteristics of the rotator cuff tear; clinical and radiological parameters; and pre- and postoperative functional scores were compared. RESULTS: The rate of development of CTA was 11.5% (36 of 312 patients, 13 centric and 23 eccentric arthropathy). CTA was more frequently associated with the poor integrity of the supraspinatus tendon after repair (P < .001) and massive tears (P = .006). Postoperative pseudoparalysis (P < .001), symptomatic retear (P < .001), tear size (P = .026), critical shoulder angle (P = .001), preoperative acromiohumeral interval (P = .046), and the humeral head superior migration (P = .001) were found to be associated with the development of CTA. However, only postoperative pseudoparalysis was found to be an independent risk factor (P < .001, odds ratio: 2.965). Patients with postrepair CTA had significantly worse functional outcome scores. CONCLUSION: The postoperative development of pseudoparalysis may be a marker of CTA in the future and that closer follow-up may be necessary.


Assuntos
Artropatias , Lesões do Manguito Rotador , Artroscopia , Humanos , Imageamento por Ressonância Magnética , Estudos Retrospectivos , Manguito Rotador/diagnóstico por imagem , Manguito Rotador/cirurgia , Lesões do Manguito Rotador/diagnóstico por imagem , Lesões do Manguito Rotador/cirurgia , Resultado do Tratamento
6.
Foot Ankle Surg ; 27(6): 636-642, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32826167

RESUMO

BACKGROUND: Impaired wound healing is a major cause of morbidity in diabetic patients by causing chronic ulcers. This study aimed to investigate the safety and outcomes after intralesional allogeneic adipose-derived mesenchymal stem cells injection in chronic diabetic foot ulcers. METHODS: Twenty patients (12 male and eight female) were involved in the study. We randomized the patients into two groups of 10 patients each. The study group was treated with allogeneic adipose-derived mesenchymal stem cells injection with standard diabetic wound care. The control group received only standard diabetic wound care. Patient demographics, wound characteristics, wound closure time, amputation rates and clinical scores were evaluated. RESULTS: The mean age was 57.3 ± 6.6 years. The mean follow-up duration was 48.0 (range, 26-50) months. Wound closure was achieved in 17 of 20 lesions (study group, 9 lesions; control group, 8 lesions; respectively). The mean time to wound closure was 31.0 ± 10.7 (range, 22-55) days in the study group, 54.8 + 15.0 (range, 30-78) days in the control group (p = 0.002). In three patients, minor amputations were performed (one patient in study group; two patients in the control group, p = 0.531). There was a significant difference between groups in terms of postoperative Short Form 36- physical functioning (p = 0.017) and Short Form 36-general health (p = 0.010). CONCLUSION: Allogeneic adipose-derived mesenchymal stem cells injection was found to be a safe and effective method with a positive contribution to wound-healing time in the treatment of chronic diabetic foot ulcers.


Assuntos
Diabetes Mellitus , Pé Diabético , Úlcera do Pé , Transplante de Células-Tronco Hematopoéticas , Amputação Cirúrgica , Pé Diabético/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cicatrização
7.
Int J Urol ; 26(2): 292-298, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30478911

RESUMO

OBJECTIVES: To detect autosomal genetic defects and to determine candidate genes in Sertoli cell-only syndrome infertile men. METHODS: Single-nucleotide polymorphism + comparative genomic hybridization microarray technology was carried out on 39 Sertoli cell-only syndrome infertile patients in the present study. Array comparative genomic hybridization compares the patient's genome against a reference genome, and identifies uncover deletions, amplifications and loss of heterozygosity. RESULTS: A link between defective spermatogenesis genes and infertility was examined, and amplifications and deletions in several genes were detected, including homeobox gene; synaptonemal complex element protein 1; collagen, type I, alpha 1; imprinted maternally expressed transcript; and potassium voltage-gated channel subfamily Q member 1. CONCLUSIONS: The present data suggest that several genes can play an important role in spermatogenesis and progression of Sertoli cell-only syndrome.


Assuntos
Genoma Humano/genética , Síndrome de Células de Sertoli/genética , Espermatogênese/genética , Adulto , Ácidos Nucleicos Livres/genética , Ácidos Nucleicos Livres/isolamento & purificação , Hibridização Genômica Comparativa/métodos , Progressão da Doença , Amplificação de Genes , Humanos , Perda de Heterozigosidade , Masculino , Polimorfismo de Nucleotídeo Único , Estudos Retrospectivos , Túbulos Seminíferos/patologia , Síndrome de Células de Sertoli/sangue , Síndrome de Células de Sertoli/patologia
8.
IUBMB Life ; 68(10): 806-16, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27634552

RESUMO

Obesity is a major contributory factor of morbidity and mortality. It has been suggested that biological systems may be involved in the tendency to be and to remain physically inactive also behaviors such as food and beverage preferences and nutrient intake may at least partially genetically determined. Consequently, besides environment, genetic factors may also contribute to the level of physical activity and eating behaviors thus effect obesity. Therefore the aim of this study is to investigate the effect of various gene mutations on obesity, physical activity levels and eating behavior phenotypes. One hundred patients and 100 controls were enrolled to the study. Physical activity levels were measured with an actical acceloremeter device. Eating behaviors were evaluated using Three-Factor Eating questionnaire (TFEQ). Associations between eating behavior scores and physical characteristics were also evaluated. The information about other obesity risk factors were also collected. Mutations were investigated with PCR, direct sequencing and Real-Time PCR. rs1051168, rs8050146 -2778C > T mutations were found statistically significant in patients, rs1121980 was found statistically significant in controls. 21 mutations were found in MC4R and near MC4R of which 18 of them are novel and 8 of them cause amino acid change. In addition, it was found that, some obesity related factors and questions of TFEQ are associated with various investigated gene mutations. Any relation between gene mutations and physical activity levels were not detected. It is thought that, due to the genotype data and eating behaviors, it may be possible to recommend patients for proper eating patterns to prevent obesity. © 2016 IUBMB Life, 68(10):806-816, 2016.


Assuntos
Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética , Neurocinina B/análogos & derivados , Obesidade/genética , Receptor Tipo 4 de Melanocortina/genética , Adulto , Sequência de Bases , Índice de Massa Corporal , Estudos de Casos e Controles , Exercício Físico , Comportamento Alimentar , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Mutação , Neurocinina B/genética , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA
9.
Knee Surg Sports Traumatol Arthrosc ; 24(4): 1293-8, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26493549

RESUMO

PURPOSE: This study aimed to compare medium-term functional effects of three different treatment modalities in patients with osteochondral lesions of the talus (OLT). METHODS: Fifty-four patients undergoing arthroscopic surgery for osteochondral lesion of the talus were included in this study. Patients were assigned to one of the three treatment groups: microfracture surgery (n = 19), microfracture surgery plus platelet-rich plasma (PRP) (n = 22), and mosaicplasty (n = 13). Function was assessed using the American Orthopedic Foot and Ankle Society (AOFAS) scoring system and VAS scores for pain, before and after surgery. In addition, the Foot and Ankle Ability Measure (FAAM) tests for pain and 15-min walking were done at follow-up visits. RESULTS: The median duration of follow-up was 42 months (range 12-84 months). All groups showed significant improvements in AOFAS and VAS pain scores at the last follow-up visit, when compared to baseline. The groups did not differ with regard to change in baseline AOFAS score; however, improvement in VAS pain scores was significantly better in the mosaicplasty group when compared to the microfracture group (change from baseline, -5.8 ± 1.0 vs. -3.2 ± 2.9, p = 0.018). CONCLUSIONS: All the three treatment modalities resulted in good medium-term functional results. However, mosaicplasty procedure seems to be a promising option and it might be preferred particularly in patients where pain control is important. LEVEL OF EVIDENCE: II.


Assuntos
Artroplastia Subcondral/métodos , Artroscopia/métodos , Osteocondrite/cirurgia , Plasma Rico em Plaquetas , Tálus/fisiopatologia , Tálus/cirurgia , Adolescente , Adulto , Idoso , Cartilagem Articular/fisiopatologia , Cartilagem Articular/cirurgia , Criança , Feminino , Fraturas de Estresse/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Ortopédicos/métodos , Osteocondrite/fisiopatologia , Avaliação de Resultados em Cuidados de Saúde , Dor/cirurgia , Manejo da Dor , Adulto Jovem
10.
Knee Surg Sports Traumatol Arthrosc ; 23(8): 2384-2389, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24292979

RESUMO

PURPOSE: To compare the effect of arthroscopic microfracture surgery alone or in combination with platelet rich plasma (PRP) on functional outcomes in osteochondral lesions of the talus. METHODS: A total of 35 patients were included in the study. Control subjects (n = 16) received treatment with microfracture surgery alone, while the remaining patients (PRP group, n = 19) were also given PRP. After an average follow-up of 16.2 months (range 12-24 months), patients were assessed using the American Orthopaedic Foot and Ankle Society (AOFAS) scoring system, Foot and Ankle Ability Measure (FAAM), and the visual analogue scale (VAS) for pain. RESULTS: At baseline, AOFAS and FAAM scores were similar in the two groups, whereas pain scores (VAS) were higher in those who were assigned to combined treatment. Despite the latter finding, the combined treatment with PRP resulted in better outcomes in terms of functional scores [AOFAS, 89.2 ± 3.9 vs. 71.0 ± 10.2, (p = 0.001); FAAM overall pain domain, 1.0 (1.0-2.0) vs. 2.5 (1.0-4.0), (p = 0.04); FAAM 15-min walking domain, 1.0 (1.0-2.0) vs. 2.0 (1.0-4.0) (p = 0.001)]; and pain-related scores [VAS, 2.2 ± 0.8 vs. 3.8 ± 1.2, (p = 0.001)] as compared to arthroscopic microfracture surgery alone. CONCLUSIONS: PRP as an adjunct to arthroscopic microfracture surgery for the treatment of osteochondral lesions of the talus resulted in improved functional score status in the medium-term. Further studies to determine the long-term efficacy of this approach were warranted. LEVEL OF EVIDENCE: II.


Assuntos
Artroplastia Subcondral , Cartilagem/cirurgia , Plasma Rico em Plaquetas , Tálus/cirurgia , Adolescente , Adulto , Idoso , Cartilagem/lesões , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados da Assistência ao Paciente , Estudos Prospectivos , Tálus/lesões , Escala Visual Analógica , Adulto Jovem
11.
Curr Ther Res Clin Exp ; 77: 35-9, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25737745

RESUMO

OBJECTIVE: The high risk of nonunion represents a challenge in vertebral surgery, thus stimulating new strategies to improve fusion rates. We investigated the effect of 2 different bone grafts and amniotic fluid application on radiologically and histologically evaluated vertebral fusion in an experimental rat model. MATERIALS AND METHODS: Forty-eight 24-week-old Sprague Dawley rats were included and assigned into 1 of 4 groups: allograft group, allograft plus human amniotic fluid group, demineralized bone matrix (DBM) group, or DBM plus human amniotic fluid group. After decortication and L4-L6 spinal fusion, study treatments were applied. Fusion in each rat was examined radiologically and histologically 8 weeks after the intervention. RESULTS: The group that received only allograft had better radiologic scores (median = 3.5; range = 3-4) when compared with the group that received only DBM (median = 2; range = 1-4) (P = 0.002); however, histologic scores did not differ. When amniotic fluid was added to the grafting, allograft-based treatments performed better than DBM-based treatments both on radiologic (median = 4; range = 3-4 vs median = 3; range = 3-4; P = 0.003) and histologic (median = 7; range = 6-7 vs median = 5; range = 3-6; P < 0.001) evaluation. Addition of amniotic fluid did not result in better outcomes in the rats that received DBM-based treatments but based on histologic evaluation, rats that received allograft-based treatments benefited from this application. CONCLUSIONS: Amniotic fluid seems to have an enhancing effect on posterior spinal fusion, particularly when combined with allograft.

12.
Ann Hum Genet ; 78(6): 399-409, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25227725

RESUMO

Congenital adrenal hyperplasia (CAH) is a group of genetic endocrine disorders, caused by enzyme deficiencies in the conversion of cholesterol to cortisol. More than 90% of the cases have 21-hydroxylase deficiency (21-OHD). The clinical phenotype of the disease is classified as classic, the severe form, and nonclassic, the mild form. In this study, it was planned to characterize the mutations that cause 21-OHD in Turkish CAH patients by direct sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis and to investigate the type of CAH (classic or nonclassic type) that these mutations cause. A total of 124 CAH patients with 21-OHD and 100 healthy volunteers were recruited to the study. Most of the mutations were detected by direct sequencing. Large gene deletions/duplications/conversions were investigated with MLPA analysis. Results were evaluated statistically. At the end of our study, 66 different variations were detected including SNPs and deletions/duplications/conversions. Of these variations, 18 are novel, of which three cause amino acid substitutions. In addition, 15 SNPs which cause amino acid changes were identified among these variations. If similar results are obtained in different populations, these mutations, in particular the novel mutation 711 G>A, may be used as markers for prenatal diagnosis.


Assuntos
Hiperplasia Suprarrenal Congênita/genética , Esteroide 21-Hidroxilase/genética , Substituição de Aminoácidos , Estudos de Casos e Controles , Análise Mutacional de DNA , Conversão Gênica , Deleção de Genes , Duplicação Gênica , Frequência do Gene , Genótipo , Humanos , Mutação , Fenótipo , Polimorfismo de Nucleotídeo Único , Turquia
13.
Med Princ Pract ; 23(6): 551-5, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25196268

RESUMO

OBJECTIVE: To compare the outcomes of arthroscopic, radioactive and combined synovectomies in patients with chronic non-specific recurrent synovitis who did not respond to conservative therapy. SUBJECTS AND METHODS: Twenty-nine patients enrolled between 2007 and 2011 were divided into 3 groups: group 1 was treated with arthroscopy, group 2 received a radioactive drug and group 3 received a combined (radioactive and arthroscopic) synovectomy. Treatment efficacy was evaluated by comparing pre- and post-operative Lysholm knee scores (LKS), night pain, resting pain, activity pain and effusions using visual analogue scales (VAS). Patient satisfaction was assessed using the visual analogue patient satisfaction scale (VAPSS). RESULTS: The mean age of the study participants was 41.5 ± 5.2 years (range 14-76), and the mean follow-up period was 33.6 ± 3.2 months (range 17-78). Before treatment, the mean LKS was 41.4 ± 3.4 in group 1, 39.6 ± 3.3 in group 2 and 37.1 ± 4.6 in group 3. After treatment, the corresponding mean LKS were 77.7 ± 2.1, 81.6 ± 2.8 and 91.3 ± 2.7 in groups 1, 2 and 3, respectively; the increase was statistically significant (p < 0.05). The VAS scores before and after treatment decreased significantly (p < 0.05). The mean VAPSS score, a measure of patient satisfaction, was 5.1 ± 1.7, 5.8 ± 1.5 and 7.4 ± 1.8 in groups 1, 2 and 3, respectively, and the difference between groups 1 and 2 was not statistically significant, while that between group 3 and the other two groups was significant (p < 0.05). CONCLUSION: This study showed that the three methods used in individuals with chronic non-specific recurrent synovitis were effective; however, arthroscopic synovectomy in combination with radioactive synovectomy was more effective than the other methods and superior in terms of patient satisfaction.


Assuntos
Artroscopia/métodos , Articulação do Joelho , Sinovite/terapia , Radioisótopos de Ítrio/uso terapêutico , Adolescente , Adulto , Idoso , Doença Crônica , Terapia Combinada , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Medição da Dor , Satisfação do Paciente , Recuperação de Função Fisiológica , Adulto Jovem , Radioisótopos de Ítrio/administração & dosagem
14.
J Pain Res ; 17: 335-343, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38292756

RESUMO

Background: To compare the analgesic effect of ISB with a combination of ISB-SSNB and patients who were given opioids with PCA without block in adult patients undergoing shoulder surgery, as measured by opioid consumption and pain intensity in the first 24 hours postoperatively. Methods: Ninety patients who underwent shoulder surgery were randomly divided into three groups. Group I in which ISB was performed and patient-controlled analgesia (PCA) was inserted, Group II with; ISB and SSNB combined, and PCA was inserted, and Group III where; only PCA was used. Visual analog scale (VAS) pain scores at the second, fourth, sixth, 12th, and 24th hours, morphine consumption, additional analgesic requirement, and patient satisfaction were evaluated. Results: Compared with Group III, the VAS pain score was significantly lower in Group I and Group II at 2, 4, 6, 12, and 24 hours postoperatively. In Group I, the VAS score at rest at the 6th hour was found to be higher than in Group II. The 24-hour total morphine consumption was higher in the control group than in Group I and Group II. The satisfaction score of the control group was lower than Group I and Group II. Conclusion: The combined application of ISB and SSNB block is beneficial in shoulder surgery to provide both intraoperative and postoperative analgesia and opioid consumption. Level of Evidence: Level I; Randomized Controlled Trial; Treatment Study.

15.
ACS Omega ; 9(15): 17217-17228, 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38645356

RESUMO

Breast cancer (BC) persists as the predominant malignancy globally, standing as the foremost cause of cancer-related mortality among women. Despite notable advancements in prevention and treatment, encompassing the incorporation of targeted immunotherapies, a continued imperative exists for the development of innovative methodologies. These methodologies would facilitate the identification of women at heightened risk, enhance the optimization of therapeutic approaches, and enable the vigilant monitoring of emergent treatment resistance. Circulating microRNAs (miRNAs), found either freely circulating in the bloodstream or encapsulated within extracellular vesicles, have exhibited substantial promise for diverse clinical applications. These applications range from diagnostic and prognostic assessments to predictive purposes. This study aimed to explore the potential associations between BRCA mutations and specific miRNAs (miR-21, miR-155, miR-126, and miR-200c) expression that are known to be dysregulated in BC patient samples. Our findings indicate a robust correlation between miRNA expression status and disease subtypes. We found a correlation between the expression status of miRNAs and distinct disease subtypes. Intriguingly, however, no significant associations were discerned between disease status, subtypes, or miRNA expression levels and the presence of BRCA mutations. To advance the validation of miRNAs as clinically relevant biomarkers, additional investigations within larger and meticulously selected patient cohorts are deemed imperative. These microRNA entities hold the potential to emerge as groundbreaking and readily accessible tools, poised for seamless integration into the landscape of clinical practice.

16.
Pediatr Infect Dis J ; 43(7): e231-e234, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38621150

RESUMO

BACKGROUND: Herbaspirillum species are nonfermenting, aerobic, helical or curved, Gram-negative bacteria belonging to the class Betaproteobacteria, order Burkholderiales. To date, only a few studies have reported on the epidemiology, clinical symptoms, antibiotic susceptibility profiles, treatment and outcomes of Herbaspirillum huttiense -related infections in pediatric patients. METHODS: The aim of this study was to present 3 years of H.huntiense data, antibiotic susceptibility profiles, systemic antibiotics and antibiotic lock therapy (ALT) options and clinical outcomes. RESULTS: Fourteen episodes of infection in 12 patients were included in this retrospective study. The patients had a male/female ratio of 1:1 and a median age of 160.5 months (range, 3-198 months). Catheter-related bloodstream infection (CRBSI) was detected in 11 patients. Only 1 patient developed catheter-related infective endocarditis. The patient's catheter was removed, and she was successfully treated with systemic antibiotics for 4 weeks. Systemic antibiotics were used in all infections related to H. huttiense . In septic, critically ill patients, the catheter was removed, and systemic antibiotics were started. Port catheters were removed in 5 patients. ALT was performed in clinically stable patients. ALT using amikacin was administered to 6 patients through the port catheter. Two patients had a 2nd attack. After the 2nd ALT treatment, 1 patient cured, and the catheter of the other patient was removed due to persistent microbial growth in cultures. Antimicrobial susceptibility testing of the reported isolates showed susceptibility to meropenem (90%), ceftazidime (87%) and piperacillin/tazobactam (65%), with 92% resistance to colistin. CONCLUSION: H. huttiense is an emerging pathogen in CRBSI. Piperacillin/tazobactam, ceftazidime and meropenem appear to be good therapeutic options for the treatment of H. huttiense infections. ALT and systemic antibiotics can be used in H. huttiense -CRBSI to sterilize and preserve the central venous catheter.


Assuntos
Antibacterianos , Infecções Relacionadas a Cateter , Infecções por Bactérias Gram-Negativas , Herbaspirillum , Testes de Sensibilidade Microbiana , Humanos , Feminino , Masculino , Criança , Estudos Retrospectivos , Antibacterianos/uso terapêutico , Antibacterianos/farmacologia , Herbaspirillum/efeitos dos fármacos , Herbaspirillum/genética , Infecções Relacionadas a Cateter/microbiologia , Infecções Relacionadas a Cateter/tratamento farmacológico , Pré-Escolar , Lactente , Infecções por Bactérias Gram-Negativas/tratamento farmacológico , Infecções por Bactérias Gram-Negativas/microbiologia , Infecções por Bactérias Gram-Negativas/epidemiologia , Adolescente
17.
ScientificWorldJournal ; 2013: 481348, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24307871

RESUMO

AIM: Carpal tunnel syndrome (CTS) is one of the frequent problems of the patients who underwent hemodialysis (HD). The role of venous hypertension due to arteriovenous fistula (AVF) has not been clarified completely; therefore, we aimed to investigate the role of venous hypertension due to AVF in hemodialysis patients who had CTS. PATIENTS AND METHODS: We included 12 patients who had been receiving HD treatment for less than 8 years and the newly diagnosed CTS patients with the same arm of AVF. All patients were diagnosed clinically and the results were confirmed by both nerve conduction studies and electromyography. Open carpal tunnel release surgery was performed on all of them. Venous pressure was measured in all patients before and after two weeks of surgery. RESULTS: There were significant differences before and after the surgery with regard to pressures (P > 0.05). After the surgery, all carpal ligament specimens of the patients were not stained with Congo red for the presence of amyloid deposition. CONCLUSION: Increased venous pressure on the same arm with AVF could be responsible for CTS in hemodialysis patients. Carpal tunnel release surgery is the main treatment of this disease by reducing the compression on the nerve.


Assuntos
Síndrome do Túnel Carpal/etiologia , Hipertensão/etiologia , Ligamentos Articulares/patologia , Placa Amiloide/etiologia , Diálise Renal/efeitos adversos , Fístula Arteriovenosa/complicações , Fístula Arteriovenosa/etiologia , Síndrome do Túnel Carpal/patologia , Síndrome do Túnel Carpal/cirurgia , Feminino , Humanos , Hipertensão/complicações , Masculino , Pessoa de Meia-Idade , Condução Nervosa/fisiologia , Placa Amiloide/complicações
18.
Curr Ther Res Clin Exp ; 75: 44-7, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24465042

RESUMO

BACKGROUND: Exact role of the inflammation in osteoarthritis is still unclear, but it is thought to originate from synovitis due to micro-crystals or breakdown products of the cartilage. OBJECTIVE: To determine the effect of CD30+ T lymphocytes on the development of osteoarthritis by comparing the lesion depth and synovial CD30+ count in patients with chondral lesions undergoing knee joint arthroscopy. DESIGN: A total of 79 patients with chondral lesions detected during arthroscopy were categorized in 4 different groups based on chondral lesion classification. CD30+ lymphocyte counts were calculated using flow cytometry on synovial fluid samples obtained at the time of initial entrance into the joint and compared between the groups. In addition, biopsy samples obtained from the suprapatellar bursa were stained for histologic examination to identify existence of CD30+ lymphocytes in the synovium. RESULTS: Although there were no significant differences between the first 3 groups in terms of synovial fluid CD30+ lymphocyte counts, patients in Group IV had significantly higher counts (6.2 8 [2.48] vs 2.51 [1.84], 2.97 [2.40], and 3.80 [2.07], respectively; P < 0.05). Except for a single patient with a Grade III chondral lesion, there were no cases of CD30 positivity in synovial tissue. Also there was a correlation between CD30 levels and chondral lesion depth when controlled for age. CONCLUSIONS: Our results indicate higher CD30+ lymphocyte counts in patients with modified Outerbridge Grade IV chondral lesions than in other groups. The origin of the CD30+ lymphocytes may not be the synovial tissue per se. Thus, it was hypothesized that the injured chondral tissues and the associated subchondral structures might have been the source of CD30+ lymphocytes with a possible influence on the development of osteoarthritis.

19.
Curr Ther Res Clin Exp ; 74: 49-53, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24384784

RESUMO

OBJECTIVE: To evaluate the efficacy and safety of fondaparinux compared with nadroparin for prevention of venous thromboembolism after arthroplasty. PATIENTS AND METHODS: One hundred fifteen patients were randomized into 2 treatment groups. Patients were given fondaparinux in Group I and nadroparin in Group II. Measurements were performed on Days 1, 5, and 21. The wound area was assessed with a subjective visual analog scale. RESULTS: The blood counts, clinical biochemical tests, and coagulation tests (ie, thrombin time, partial thromboplastin time, activated partial thromboplastin time, fibrinogen, prothrombin time-International Normalized Ratio, and antithrombin III activity) did not show statistically significant differences between Group I and Group II. In both study groups, anti-factor Xa activities increased significantly on the fifth and 21st day. The scores of the subjective visual analog scale showed significance on Day 21. CONCLUSIONS: Our results confirm the safety and efficacy of both fondaparinux and nadroparin for prophylaxis after major orthopedic surgery.

20.
Jt Dis Relat Surg ; 34(3): 628-639, 2023 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-37750268

RESUMO

OBJECTIVES: This study aims to evaluate the time- and dose-dependent effects of oral hydroxychloroquine (HCQ) on focal full-thickness knee chondral defect healing in a rabbit model. MATERIALS AND METHODS: Cartilage defects of 4x4 mm2 were created on both medial femoral condyles of 24 New Zealand rabbits. The rabbits were divided into six groups (A-F) according to HCQ administration and sacrifice time: A (three-week control) and B (six-week control) received no additional interventions; C (20 mg/kg HCQ, three weeks); D (20 mg/kg HCQ, six weeks); E (40 mg/kg HCQ, three weeks); and F (40 mg/kg HCQ, six weeks). Osteochondral specimens were evaluated macroscopically, histologically, and immunohistochemically. The terminal deoxynucleotidyl-transferase (TdT)-mediated dUTP nick end labeling (TUNEL) method was used to detect apoptotic cells. RESULTS: The International Cartilage Repair Society (ICRS) scores were significantly higher in the experimental groups than in the controls (p<0.001). The Wakitani scores in Group D showed a significant improvement compared to those in Group B (p<0.01). The 20 mg/kg HCQ treatment groups showed better recovery than the controls (p<0.01). High-dose HCQ (40 mg/kg) treatment significantly reduced the intensity of collagen type 2 immunoreactivity compared to that in the groups receiving 20 mg/kg of HCQ (p<0.01). Collagen type 2 expression in Group F was significantly lower than that in Group D (p<0.01). There were more TUNEL-positive cells in the repair sites of Groups E and F than in the lower-dose experimental groups and untreated experimental groups (p<0.001). CONCLUSION: A low dose of HCQ improved cartilage repair, while higher doses of HCQ exerted a negative effect on cartilage regeneration in rabbits. In the presence of defective cartilage, the use of HCQ at an appropriate dose and time is important for cartilage health.


Assuntos
Epífises , Hidroxicloroquina , Coelhos , Animais , Hidroxicloroquina/farmacologia , Hidroxicloroquina/uso terapêutico , Fêmur , Articulação do Joelho
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